ClinVar Miner

List of variants reported as uncertain significance for connective tissue disorder

Included ClinVar conditions (369):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19772
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HGVS dbSNP gnomAD frequency
NM_012275.3(IL36RN):c.*276A>G rs1800930 0.64674
NM_012275.3(IL36RN):c.*418A>G rs3180235 0.64649
NM_012275.3(IL36RN):c.*560C>G rs2472188 0.64649
NM_012275.3(IL36RN):c.*222T>C rs2515401 0.64643
NM_012275.3(IL36RN):c.*326C>A rs2515402 0.64633
NM_004612.4(TGFBR1):c.*2103T>G rs7871490 0.12488
NM_001367624.2(ZNF469):c.*634C>A rs74032868 0.03588
NM_004612.4(TGFBR1):c.*2112G>T rs60885995 0.03132
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_173842.3(IL1RN):c.*162C>T rs4252041 0.02647
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_199242.2(UNC13D):c.-260C>T rs113482537 0.01892
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000243.3(MEFV):c.*845C>T rs371608683 0.01225
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_003238.6(TGFB2):c.-620G>A rs886045971 0.01029
NM_003982.4(SLC7A7):c.*272C>T rs143575981 0.01026
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_001375808.2(LPIN2):c.*438C>T rs150379164 0.00868
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_001367624.2(ZNF469):c.*665G>A rs75706884 0.00863
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_002904.6(NELFE):c.-30C>A rs182142262 0.00631
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.*639G>A rs181380218 0.00614
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_001367624.2(ZNF469):c.*264A>G rs193210256 0.00591
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) rs113227277 0.00590
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941 0.00569
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_000243.3(MEFV):c.*701G>A rs368896227 0.00516
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_058172.6(ANTXR2):c.*2446C>T rs186733755 0.00476
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_012275.3(IL36RN):c.*1995T>C rs28938782 0.00468
NM_004612.4(TGFBR1):c.*2081G>T rs200898127 0.00465
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_000431.3(MVK):c.-178A>G rs67606936 0.00444
NM_001367624.2(ZNF469):c.*599C>G rs146233624 0.00440
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001558.4(IL10RA):c.*1555C>T rs182393130 0.00386
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_004612.4(TGFBR1):c.*2092G>T rs199545273 0.00369
NM_000243.3(MEFV):c.*74C>T rs11466050 0.00365
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_000243.3(MEFV):c.*1029G>C rs142648477 0.00351
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357 0.00330
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001375808.2(LPIN2):c.*806C>T rs144349249 0.00316
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_000628.5(IL10RB):c.*816T>C rs118117891 0.00298
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00296
NM_001558.4(IL10RA):c.67+8T>C rs200992970 0.00290
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_058172.6(ANTXR2):c.*5761A>G rs541962244 0.00275
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_001375808.2(LPIN2):c.-10+1206A>T rs112648131 0.00272
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059 0.00268
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006 0.00266
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00258
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_003238.6(TGFB2):c.-644A>G rs747761067 0.00246
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00243
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_130384.3(ATRIP):c.*655G>C rs577465983 0.00222
NM_012275.3(IL36RN):c.6C>T (p.Val2=) rs28938771 0.00221
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser) rs138956788 0.00220
NM_001367624.2(ZNF469):c.*420G>A rs45532839 0.00219
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_001375808.2(LPIN2):c.-10+1256G>A rs181504392 0.00215
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_012275.3(IL36RN):c.*1866T>C rs72946731 0.00214
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_001367624.2(ZNF469):c.*421G>T rs148260049 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00196
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225 0.00189
NM_001367624.2(ZNF469):c.*518G>A rs563015267 0.00189
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_058172.6(ANTXR2):c.*1126T>A rs192905651 0.00188
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293 0.00180
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro) rs35746269 0.00180
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_058172.6(ANTXR2):c.*2226A>T rs533517816 0.00179
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_000431.4(MVK):c.*332C>T rs574536495 0.00175
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_000431.4(MVK):c.*601G>A rs536969522 0.00170
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_054027.6(ANKH):c.*3962T>C rs528418242 0.00159
NM_054027.6(ANKH):c.*3616C>T rs550672520 0.00158
NM_000138.5(FBN1):c.1714+54del rs193922184 0.00156
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_183235.3(RAB27A):c.-93G>T rs181491869 0.00151
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) rs149629209 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_001375808.2(LPIN2):c.*100G>A rs564971189 0.00147
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_058172.6(ANTXR2):c.*702A>C rs537492648 0.00146
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001083116.3(PRF1):c.873C>T (p.Ser291=) rs149008090 0.00139
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_001457.4(FLNB):c.420G>A (p.Thr140=) rs192491895 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln) rs13321615 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_004612.4(TGFBR1):c.*2685T>G rs145043837 0.00132
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001375808.2(LPIN2):c.*251C>T rs563023966 0.00131
NM_001558.4(IL10RA):c.*866C>A rs145605428 0.00130
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) rs138929400 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_001065.4(TNFRSF1A):c.*178C>T rs186356476 0.00129
NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys) rs138616955 0.00128
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_000127.3(EXT1):c.-678C>T rs886062644 0.00127
NM_000628.5(IL10RB):c.442G>A (p.Val148Met) rs45545138 0.00125
NM_003242.6(TGFBR2):c.*742C>T rs17026328 0.00125
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile) rs77864207 0.00124
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_144687.3(NLRP12):c.-143C>A rs190223587 0.00121
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_058172.6(ANTXR2):c.*4576A>G rs181895498 0.00119
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_002904.6(NELFE):c.-61G>C rs546698443 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_001375808.2(LPIN2):c.*903T>A rs78462116 0.00114
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_001375808.2(LPIN2):c.*1418G>A rs552844041 0.00111
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_005546.4(ITK):c.1276C>T (p.Leu426=) rs145991142 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) rs199636472 0.00104
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026 0.00102
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln) rs150747960 0.00098
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_002451.4(MTAP):c.*1453C>T rs753610558 0.00096
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845 0.00093
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_004612.4(TGFBR1):c.*4623G>C rs200806851 0.00092
NM_001065.4(TNFRSF1A):c.*263C>T rs201376255 0.00091
NM_001558.4(IL10RA):c.*1147C>T rs527246428 0.00091
NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe) rs145382776 0.00091
NM_000243.3(MEFV):c.*1008A>G rs1305464681 0.00090
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_173842.3(IL1RN):c.*644del rs757094565 0.00089
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=) rs112382430 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_001122681.2(SH3BP2):c.*3229T>G rs886059374 0.00086
NM_001242.5(CD27):c.539-6T>C rs202127301 0.00086
NM_015474.4(SAMHD1):c.275+8T>A rs186225001 0.00086
NM_000127.3(EXT1):c.-655C>A rs886062642 0.00084
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu) rs56143179 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_002451.4(MTAP):c.*3072G>A rs768885564 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_001122681.2(SH3BP2):c.*4161C>T rs771475877 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001844.5(COL2A1):c.969+6T>C rs139163410 0.00081
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_012275.3(IL36RN):c.*581C>G rs28938779 0.00080
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_001127511.3(APC):c.-204A>G rs554351451 0.00076
NM_001558.4(IL10RA):c.*1684G>A rs143719655 0.00076
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=) rs150551465 0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_003238.6(TGFB2):c.-338T>A rs148765724 0.00074
NM_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000431.4(MVK):c.*75T>G rs138924471 0.00071
NM_058172.6(ANTXR2):c.*2225A>G rs543254931 0.00071
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_005902.4(SMAD3):c.*1315C>T rs886051391 0.00070
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) rs151274071 0.00070
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln) rs117423374 0.00069
NM_012275.3(IL36RN):c.*1849T>A rs554682838 0.00069
NM_000047.3(ARSL):c.23+5G>C rs200062390 0.00068
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) rs143548979 0.00068
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val) rs142752989 0.00067
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln) rs200109035 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn) rs78753252 0.00066
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_004612.4(TGFBR1):c.*4040T>A rs41283640 0.00066
NM_001367624.2(ZNF469):c.*1071A>T rs536887736 0.00065
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_058172.6(ANTXR2):c.*2550T>C rs559781709 0.00065
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_001375808.2(LPIN2):c.*1027G>A rs551503883 0.00064
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00064
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) rs76599296 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_058172.6(ANTXR2):c.*5525G>A rs533063623 0.00062
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001122681.2(SH3BP2):c.*3175C>T rs886059372 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) rs145949718 0.00058
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00058
NM_005902.4(SMAD3):c.*1583T>G rs577631492 0.00058
NM_006929.5(SKIC2):c.1020T>C (p.Val340=) rs61761944 0.00058
NM_144687.3(NLRP12):c.-226A>G rs547032329 0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000243.3(MEFV):c.*724G>A rs886051968 0.00056
NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys) rs200790561 0.00056
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001370466.1(NOD2):c.-8-2174C>T rs149122717 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_054027.6(ANKH):c.*6012T>C rs576051028 0.00056
NM_001065.4(TNFRSF1A):c.-75C>T rs55785527 0.00055
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) rs143579306 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000243.3(MEFV):c.*1002G>C rs1316887692 0.00054
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_001122681.2(SH3BP2):c.*6399_*6400insA rs1553809321 0.00054
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr) rs61744537 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_002451.4(MTAP):c.*3052C>T rs182636316 0.00053
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met) rs141049110 0.00053
NM_032193.4(RNASEH2C):c.*456G>A rs561937926 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_054027.6(ANKH):c.*1646A>G rs564365629 0.00052
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055 0.00052
NM_000138.5(FBN1):c.6038-37G>A rs202137580 0.00051
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=) rs373797039 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001852.4(COL9A2):c.*67A>G rs553963794 0.00051
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_024570.4(RNASEH2B):c.-228C>A rs577725827 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_001065.4(TNFRSF1A):c.*374T>G rs200167144 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001366385.1(CARD14):c.1134C>G (p.Ser378Arg) rs150536049 0.00049
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) rs764487066 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_000127.3(EXT1):c.-731G>A rs886062645 0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636 0.00048
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) rs199986980 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_058172.6(ANTXR2):c.*3602A>G rs574894829 0.00048
NM_058172.6(ANTXR2):c.*4058A>T rs75657044 0.00048
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr) rs142114129 0.00047
NM_001558.4(IL10RA):c.*1375C>A rs141609122 0.00047
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) rs202169550 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_000628.5(IL10RB):c.174-14T>G rs200472684 0.00046
NM_001243133.2(NLRP3):c.-460G>A rs199475727 0.00046
NM_001375808.2(LPIN2):c.*2417C>T rs760089028 0.00046
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_001558.4(IL10RA):c.*203G>T rs550348490 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000628.5(IL10RB):c.-74C>A rs56368587 0.00045
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233 0.00045
NM_001375808.2(LPIN2):c.*520T>C rs576721761 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp) rs34482255 0.00045
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu) rs145508748 0.00044
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001375808.2(LPIN2):c.*1742A>G rs551448975 0.00044
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp) rs143538561 0.00044
NM_002451.4(MTAP):c.*2651G>A rs569725867 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) rs150355046 0.00043
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_001558.4(IL10RA):c.*854C>G rs535662153 0.00043
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_001065.4(TNFRSF1A):c.*252A>G rs45563431 0.00042
NM_001111.5(ADAR):c.*2586C>T rs559398617 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 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_001852.4(COL9A2):c.*370G>A rs548912125 0.00041
NM_002296.4(LBR):c.312C>T (p.Ala104=) rs146953852 0.00041
NM_005546.4(ITK):c.1455C>T (p.Ala485=) rs201568204 0.00041
NM_005902.4(SMAD3):c.*2028T>C rs549152312 0.00041
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398 0.00041
NM_012275.3(IL36RN):c.136C>T (p.Pro46Ser) rs145099228 0.00041
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser) rs143804674 0.00041
NM_054027.6(ANKH):c.*1626G>A rs760609731 0.00041
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) rs200813801 0.00041
NM_001111.5(ADAR):c.*1751T>G rs748291356 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_032193.4(RNASEH2C):c.*363C>T rs547082810 0.00040
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) rs373954247 0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_001999.4(FBN2):c.-338G>A rs776638871 0.00039
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_003238.6(TGFB2):c.*2053G>A rs530767727 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser) rs143227096 0.00039
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) rs150713148 0.00039
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) rs149267802 0.00039
NM_001243133.2(NLRP3):c.-710C>T rs199723383 0.00038
NM_001375808.2(LPIN2):c.*1827G>A rs886053747 0.00038
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_006397.3(RNASEH2A):c.*16G>T rs199696470 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_054027.6(ANKH):c.*4103G>A rs181397772 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_198282.4(STING1):c.760-1_760del rs746371007 0.00038
NM_198282.4(STING1):c.760-3dup rs770249736 0.00038
NM_198282.4(STING1):c.762_764del (p.Gly255del) rs781602496 0.00038
NM_198282.4(STING1):c.766A>T (p.Thr256Ser) rs773415324 0.00038
NM_000127.3(EXT1):c.-358T>C rs886062639 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_144687.3(NLRP12):c.*395C>T rs886054604 0.00037
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002661.5(PLCG2):c.707C>T (p.Pro236Leu) rs199760975 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_018699.4(PRDM5):c.1189-14T>C rs375296023 0.00036
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_054027.6(ANKH):c.*3554C>T rs185233583 0.00036
NM_054027.6(ANKH):c.*4958T>C rs187771198 0.00036
NM_138348.6(OTULIN):c.1052G>A (p.Ser351Asn) rs201549255 0.00036
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001852.4(COL9A2):c.*443C>T rs531591616 0.00035
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_004612.4(TGFBR1):c.*1772A>C rs201191009 0.00035
NM_004612.4(TGFBR1):c.*4366A>G rs199892683 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_144687.4(NLRP12):c.-56G>A rs112227599 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271 0.00034
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys) rs201429571 0.00034
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_003183.6(ADAM17):c.1480A>G (p.Met494Val) rs1038962906 0.00034
NM_003242.6(TGFBR2):c.-193G>A rs886058301 0.00034
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_004612.4(TGFBR1):c.*1240G>A rs200689459 0.00034
NM_004612.4(TGFBR1):c.*311G>A rs200804500 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_012275.3(IL36RN):c.350C>T (p.Pro117Leu) rs141341649 0.00034
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) rs140804613 0.00034
NM_015922.3(NSDHL):c.649G>A (p.Glu217Lys) rs138492835 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00034
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg) rs147407444 0.00034
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_001375808.2(LPIN2):c.*2605G>A rs559796642 0.00033
NM_001375808.2(LPIN2):c.*666C>T rs186189096 0.00033
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_173842.3(IL1RN):c.*119C>T rs377302236 0.00033
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_000431.4(MVK):c.*468C>T rs768794506 0.00032
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001370466.1(NOD2):c.-8-2297C>T rs188341692 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) rs143115096 0.00032
NM_173842.3(IL1RN):c.*382C>T rs45566534 0.00032
NM_198282.4(STING1):c.784G>A (p.Ala262Thr) rs140038439 0.00032
NM_000127.3(EXT1):c.*151T>C rs751063786 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) rs201285077 0.00031
NM_001366385.1(CARD14):c.1829G>A (p.Arg610His) rs372001018 0.00031
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_003978.5(PSTPIP1):c.*145C>T rs965236443 0.00031
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004612.4(TGFBR1):c.*3779C>T rs201887512 0.00031
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys) rs201030033 0.00031
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile) rs767733551 0.00030
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000127.3(EXT1):c.-113G>C rs533303304 0.00029
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_001127671.2(LIFR):c.46G>A (p.Asp16Asn) rs61751713 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00029
NM_001370466.1(NOD2):c.*462C>A rs562972090 0.00029
NM_001375808.2(LPIN2):c.*1021G>A rs886053751 0.00029
NM_001375808.2(LPIN2):c.*3280C>T rs751266426 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_003238.6(TGFB2):c.*2496A>G rs745522168 0.00029
NM_003238.6(TGFB2):c.-96C>A rs1004111898 0.00029
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_005188.3(CBL):c.-122C>T rs886047765 0.00029
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00029
NM_032193.4(RNASEH2C):c.*1737C>T rs886048487 0.00029
NM_054027.6(ANKH):c.*405G>A rs557668196 0.00029
NM_058172.6(ANTXR2):c.*703C>T rs745896907 0.00029
NM_148919.4(PSMB8):c.*6G>C rs371747700 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_001065.4(TNFRSF1A):c.*64T>C rs200188649 0.00028
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_005902.4(SMAD3):c.*2046T>C rs761162475 0.00028
NM_018699.4(PRDM5):c.1031-15T>C rs201474353 0.00028
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys) rs559363898 0.00027
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_001375808.2(LPIN2):c.*167C>T rs533979693 0.00027
NM_001375808.2(LPIN2):c.*2391G>A rs536036852 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) rs150280940 0.00027
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000243.3(MEFV):c.*403A>C rs766365739 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001243133.2(NLRP3):c.-686C>T rs201896158 0.00026
NM_001370466.1(NOD2):c.*382C>T rs535063121 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001375808.2(LPIN2):c.*1443G>A rs532711041 0.00026
NM_001375808.2(LPIN2):c.*833G>A rs540627141 0.00026
NM_001375808.2(LPIN2):c.-10+1187C>T rs765741319 0.00026
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) rs150312425 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_002661.5(PLCG2):c.2260G>C (p.Asp754His) rs190001915 0.00026
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) rs138472024 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000628.5(IL10RB):c.718G>A (p.Gly240Ser) rs777514296 0.00025
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp) rs768891477 0.00025
NM_001375808.2(LPIN2):c.*477C>T rs140430664 0.00025
NM_001375808.2(LPIN2):c.1133C>T (p.Pro378Leu) rs146067222 0.00025
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro) rs201654184 0.00025
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) rs201638660 0.00025
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) rs181566154 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000243.3(MEFV):c.1677C>T (p.Leu559=) rs144672997 0.00024
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 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_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser) rs201777547 0.00024
NM_001558.4(IL10RA):c.96G>A (p.Val32=) rs377525753 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn) rs372261106 0.00024
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726 0.00024
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) rs113605039 0.00024
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg) rs370471445 0.00024
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087 0.00024
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_058172.6(ANTXR2):c.945+7A>G rs144618912 0.00024
NM_144687.4(NLRP12):c.857C>T (p.Pro286Leu) rs201940393 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_004371.4(COPA):c.2822G>A (p.Arg941Gln) rs368690601 0.00023
NM_004612.4(TGFBR1):c.*2095T>G rs201780012 0.00023
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) rs202038275 0.00023
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_144687.4(NLRP12):c.210G>A (p.Trp70Ter) rs146793418 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) rs141830680 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met) rs147021864 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) rs2276742 0.00022
NM_001558.4(IL10RA):c.*863C>T rs779722798 0.00022
NM_002451.4(MTAP):c.*2968T>C rs554780978 0.00022
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231 0.00022
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp) rs200998074 0.00022
NM_004612.4(TGFBR1):c.*2799C>T rs200274678 0.00022
NM_005902.4(SMAD3):c.-244G>A rs886051374 0.00022
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu) rs202214985 0.00022
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His) rs148745997 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000431.4(MVK):c.*358G>A rs575863113 0.00021
NM_000431.4(MVK):c.*431C>T rs72648044 0.00021
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) rs143747620 0.00021
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988 0.00021
NM_001370466.1(NOD2):c.*1201T>A rs751525993 0.00021
NM_001370466.1(NOD2):c.*470C>T rs770461687 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_001375808.2(LPIN2):c.*3217A>G rs767074158 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr) rs367885048 0.00021
NM_003242.6(TGFBR2):c.*86A>G rs540602629 0.00021
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys) rs151161986 0.00021
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=) rs140509598 0.00021
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) rs374854180 0.00021
NM_054027.6(ANKH):c.*3172A>G rs933543701 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_173842.3(IL1RN):c.117-9C>T rs373136455 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_212482.4(FN1):c.3199G>A (p.Val1067Met) rs145483591 0.00021
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_001111.5(ADAR):c.*301C>T rs986381538 0.00020
NM_001199138.2(NLRC4):c.2369T>C (p.Leu790Pro) rs202095832 0.00020
NM_001243133.2(NLRP3):c.-68C>T rs201758466 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001367624.2(ZNF469):c.*617C>T rs886052422 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_001375808.2(LPIN2):c.*1462A>G rs560770304 0.00020
NM_002451.4(MTAP):c.*1482A>G rs560361151 0.00020
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu) rs144458353 0.00020
NM_004612.4(TGFBR1):c.-13T>C rs886063220 0.00020
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_005902.4(SMAD3):c.*2786T>A rs775905689 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met) rs148466782 0.00019
NM_000628.5(IL10RB):c.645C>T (p.Asp215=) rs148468217 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=) rs758432190 0.00019
NM_001199138.2(NLRC4):c.2255C>T (p.Pro752Leu) rs147496633 0.00019
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001366385.1(CARD14):c.1415G>A (p.Arg472His) rs377226624 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001375808.2(LPIN2):c.*1126G>A rs886053750 0.00019
NM_001558.4(IL10RA):c.*1058A>G rs886047712 0.00019
NM_001558.4(IL10RA):c.*639C>T rs562410825 0.00019
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_002296.4(LBR):c.561C>T (p.Tyr187=) rs151100686 0.00019
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) rs148853962 0.00019
NM_002661.5(PLCG2):c.2660A>C (p.Glu887Ala) rs369092713 0.00019
NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn) rs758594009 0.00019
NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly) rs144657795 0.00019
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln) rs11568423 0.00019
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_006929.5(SKIC2):c.1341C>T (p.His447=) rs771281472 0.00019
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val) rs200318261 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_012275.3(IL36RN):c.*594T>C rs144995197 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) rs201150247 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_054027.6(ANKH):c.*6235G>A rs546234916 0.00019
NM_058172.6(ANTXR2):c.-442C>G rs886059663 0.00019
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) rs201241894 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_212482.4(FN1):c.141A>C (p.Gln47His) rs145263539 0.00019
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) rs201136367 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000243.3(MEFV):c.*467_*469del rs746257932 0.00018
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) rs201083197 0.00018
NM_001270508.2(TNFAIP3):c.1193T>C (p.Val398Ala) rs140616865 0.00018
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) rs139467141 0.00018
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207 0.00018
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) rs201491595 0.00018
NM_002451.4(MTAP):c.*3361C>T rs138870323 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_004612.4(TGFBR1):c.*3314A>G rs200374520 0.00018
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) rs770428240 0.00018
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr) rs140117667 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_031229.4(RBCK1):c.-9C>A rs140276089 0.00018
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_058172.6(ANTXR2):c.-441C>T rs778888047 0.00018
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) rs148833313 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001282225.2(ADA2):c.46C>T (p.Leu16=) rs367610393 0.00017
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001370466.1(NOD2):c.2381+7G>T rs202111813 0.00017
NM_001375808.2(LPIN2):c.*1874C>G rs75771450 0.00017
NM_001375808.2(LPIN2):c.*945G>A rs112444822 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001558.4(IL10RA):c.1145G>C (p.Ser382Thr) rs376309967 0.00017
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_002451.4(MTAP):c.*2033G>A rs547939395 0.00017
NM_002451.4(MTAP):c.*2481T>C rs937544830 0.00017
NM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp) rs141477807 0.00017
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005902.4(SMAD3):c.-265T>G rs886051373 0.00017
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_058172.6(ANTXR2):c.*2899A>G rs529893604 0.00017
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055 0.00017
NM_130384.3(ATRIP):c.*583A>G rs767364235 0.00017
NM_000095.3(COMP):c.382G>A (p.Val128Ile) rs143954978 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515 0.00016
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr) rs182875134 0.00016
NM_001065.4(TNFRSF1A):c.*297G>A rs202094667 0.00016
NM_001065.4(TNFRSF1A):c.194-14G>A rs104895241 0.00016
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val) rs144242324 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001122681.2(SH3BP2):c.*821A>G rs886059362 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln) rs374574191 0.00016
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His) rs147466598 0.00016
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly) rs757791330 0.00016
NM_001375808.2(LPIN2):c.*660A>G rs754769201 0.00016
NM_001611.5(ACP5):c.316G>A (p.Val106Met) rs148219285 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001852.4(COL9A2):c.942G>A (p.Thr314=) rs144615318 0.00016
NM_001999.4(FBN2):c.*671G>A rs886059886 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002661.5(PLCG2):c.2953G>A (p.Val985Ile) rs199840870 0.00016
NM_002661.5(PLCG2):c.3312G>A (p.Val1104=) rs375577536 0.00016
NM_002661.5(PLCG2):c.398C>T (p.Ala133Val) rs61755444 0.00016
NM_002661.5(PLCG2):c.581A>T (p.Lys194Ile) rs372054297 0.00016
NM_002661.5(PLCG2):c.751A>G (p.Ile251Val) rs190840748 0.00016
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00016
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_144687.4(NLRP12):c.2135A>G (p.Asn712Ser) rs138187543 0.00016
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=) rs199966186 0.00016
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) rs146786265 0.00016
NM_173841.2(IL1RN):c.-71A>G rs748164399 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) rs146898035 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_001083116.3(PRF1):c.866C>T (p.Thr289Met) rs150628656 0.00015
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00015
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) rs199475953 0.00015
NM_001243133.2(NLRP3):c.2018G>A (p.Arg673Gln) rs142651552 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_001375808.2(LPIN2):c.*2557G>A rs890590348 0.00015
NM_001375808.2(LPIN2):c.1957G>A (p.Asp653Asn) rs148258407 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu) rs752519410 0.00015
NM_001611.5(ACP5):c.17C>T (p.Ala6Val) rs182776939 0.00015
NM_001611.5(ACP5):c.413G>A (p.Arg138His) rs143362935 0.00015
NM_001844.5(COL2A1):c.*158C>A rs867067070 0.00015
NM_002296.4(LBR):c.1315-8C>T rs369094974 0.00015
NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp) rs375590398 0.00015
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003242.6(TGFBR2):c.*407A>G rs917786105 0.00015
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser) rs770636941 0.00015
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) rs201385967 0.00015
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met) rs749220947 0.00015
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_144687.4(NLRP12):c.38T>G (p.Leu13Arg) rs374428779 0.00015
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 0.00015
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000243.3(MEFV):c.*679C>G rs886051969 0.00014
NM_000243.3(MEFV):c.*981A>G rs1354569506 0.00014
NM_000243.3(MEFV):c.1502G>A (p.Arg501His) rs104895196 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) rs138818135 0.00014
NM_000628.5(IL10RB):c.953C>T (p.Pro318Leu) rs141414815 0.00014
NM_000628.5(IL10RB):c.954G>A (p.Pro318=) rs374161818 0.00014
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001242.5(CD27):c.713G>A (p.Arg238Lys) rs75524088 0.00014
NM_001243133.2(NLRP3):c.-369G>A rs202203407 0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001282225.2(ADA2):c.1474A>G (p.Thr492Ala) rs780459163 0.00014
NM_001282225.2(ADA2):c.543C>T (p.Ser181=) rs751859598 0.00014
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 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.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_001457.4(FLNB):c.864C>T (p.Asp288=) rs141151998 0.00014
NM_001558.4(IL10RA):c.*9G>A rs377174523 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001999.4(FBN2):c.*1009A>G rs375097557 0.00014
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_002381.5(MATN3):c.513C>T (p.Asp171=) rs571353547 0.00014
NM_002451.4(MTAP):c.*2837T>A rs566068002 0.00014
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668 0.00014
NM_002661.5(PLCG2):c.2312A>G (p.Gln771Arg) rs201803492 0.00014
NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe) rs759598100 0.00014
NM_003239.5(TGFB3):c.-547dup rs886050802 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala) rs781781950 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_004612.4(TGFBR1):c.*2290T>C rs1001943455 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala) rs372549390 0.00014
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu) rs782036233 0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) rs143265363 0.00014
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala) rs138245283 0.00014
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) rs142577271 0.00014
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581 0.00014
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648 0.00014
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) rs199564714 0.00014
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000138.5(FBN1):c.4748-12T>A rs368723745 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00013
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala) rs147026757 0.00013
NM_001243133.2(NLRP3):c.606G>A (p.Lys202=) rs146606931 0.00013
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) rs146125672 0.00013
NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg) rs142246283 0.00013
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) rs139466192 0.00013
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502 0.00013
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) rs768288160 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_001558.4(IL10RA):c.407A>G (p.Asn136Ser) rs150401784 0.00013
NM_001558.4(IL10RA):c.574C>T (p.Leu192Phe) rs148964568 0.00013
NM_001852.4(COL9A2):c.1761C>T (p.Ala587=) rs370130857 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_002451.4(MTAP):c.*1384G>C rs755911467 0.00013
NM_002451.4(MTAP):c.*2912G>C rs775831366 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003238.6(TGFB2):c.*1338T>A rs574858097 0.00013
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004612.4(TGFBR1):c.*372T>C rs200786932 0.00013
NM_004944.4(DNASE1L3):c.152G>A (p.Arg51His) rs372315713 0.00013
NM_005902.4(SMAD3):c.*2285G>A rs62014609 0.00013
NM_005902.4(SMAD3):c.*2403C>T rs755985886 0.00013
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val) rs112503877 0.00013
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp) rs146401600 0.00013
NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu) rs34458186 0.00013
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 0.00013
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) rs370349228 0.00013
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) rs373667418 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys) rs145423115 0.00013
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_054027.6(ANKH):c.*3386G>A rs368727070 0.00013
NM_054027.6(ANKH):c.*4250T>C rs776929735 0.00013
NM_054027.6(ANKH):c.*5900T>C rs943784205 0.00013
NM_054027.6(ANKH):c.*6034A>C rs886060067 0.00013
NM_054027.6(ANKH):c.*6205G>A rs886060065 0.00013
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter) rs142487599 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000081.4(LYST):c.716G>A (p.Ser239Asn) rs534142793 0.00012
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_001122681.2(SH3BP2):c.*1116C>T rs760035123 0.00012
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg) rs140154587 0.00012
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln) rs200840068 0.00012
NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn) rs369716341 0.00012
NM_001367624.2(ZNF469):c.*218G>A rs137889724 0.00012
NM_001367624.2(ZNF469):c.*285C>T rs35994806 0.00012
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser) rs548646578 0.00012
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr) rs746733236 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) rs558035857 0.00012
NM_001375808.2(LPIN2):c.*2866A>C rs17880885 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001558.4(IL10RA):c.1057C>T (p.Pro353Ser) rs35235073 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_002451.4(MTAP):c.*2269A>T rs760747427 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_004612.4(TGFBR1):c.*1759C>A rs183812806 0.00012
NM_004612.4(TGFBR1):c.*3382T>G rs200080374 0.00012
NM_004612.4(TGFBR1):c.*913C>T rs201990134 0.00012
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met) rs773526836 0.00012
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_054027.6(ANKH):c.*3548G>A rs539426552 0.00012
NM_058172.6(ANTXR2):c.*1114G>A rs753388642 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile) rs759769839 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001065.4(TNFRSF1A):c.1058-6C>G rs761155688 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001111.5(ADAR):c.*612A>T rs985271768 0.00011
NM_001111.5(ADAR):c.3401A>G (p.Tyr1134Cys) rs150284449 0.00011
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) rs370022963 0.00011
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001367624.2(ZNF469):c.*216G>A rs146964491 0.00011
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) rs527707590 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) rs561239255 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_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277 0.00011
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309 0.00011
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu) rs201254275 0.00011
NM_001558.4(IL10RA):c.931T>C (p.Leu311=) rs148808529 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002904.6(NELFE):c.-37C>T rs886061298 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) rs768569416 0.00011
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_003978.5(PSTPIP1):c.*122G>A rs527679453 0.00011
NM_003978.5(PSTPIP1):c.516G>A (p.Lys172=) rs887917369 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_004612.4(TGFBR1):c.*2410C>T rs200722893 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala) rs201928908 0.00011
NM_005546.4(ITK):c.1792-4C>T rs201859710 0.00011
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile) rs545202535 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=) rs148225182 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln) rs988134864 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229 0.00011
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg) rs370963132 0.00011
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys) rs144018482 0.00011
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_054027.6(ANKH):c.*2017G>A rs759890855 0.00011
NM_054027.6(ANKH):c.*3752G>A rs896227717 0.00011
NM_054027.6(ANKH):c.*5912T>A rs886060068 0.00011
NM_058172.6(ANTXR2):c.*1133G>A rs928832669 0.00011
NM_144687.4(NLRP12):c.154G>A (p.Gly52Ser) rs369053968 0.00011
NM_144687.4(NLRP12):c.2243+6T>C rs199816769 0.00011
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00011
NM_144687.4(NLRP12):c.3128C>T (p.Thr1043Ile) rs143874173 0.00011
NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile) rs145156267 0.00011
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=) rs564875531 0.00011
NM_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) rs565714281 0.00011
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725 0.00010
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001111.5(ADAR):c.*323G>C rs886045334 0.00010
NM_001111.5(ADAR):c.*60G>A rs772429851 0.00010
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_001122681.2(SH3BP2):c.*3383C>T rs886059375 0.00010
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=) rs144848283 0.00010
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met) rs201786792 0.00010
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser) rs777085450 0.00010
NM_001122681.2(SH3BP2):c.817A>G (p.Thr273Ala) rs373481284 0.00010
NM_001122681.2(SH3BP2):c.950C>T (p.Thr317Ile) rs371366593 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00010
NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly) rs748893301 0.00010
NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys) rs751727290 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 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.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_001375808.2(LPIN2):c.*155G>C rs1470550539 0.00010
NM_001375808.2(LPIN2):c.*778C>T rs924335721 0.00010
NM_001375808.2(LPIN2):c.192+3G>A rs377113126 0.00010
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) rs371358114 0.00010
NM_001558.4(IL10RA):c.1432G>A (p.Gly478Arg) rs755271070 0.00010
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) rs374180791 0.00010
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) rs145265651 0.00010
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) rs149805455 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_002451.4(MTAP):c.*102A>G rs755040797 0.00010
NM_002661.5(PLCG2):c.2581+4C>T rs374905431 0.00010
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00010
NM_004371.4(COPA):c.2263+5G>A rs369758843 0.00010
NM_004612.4(TGFBR1):c.*4293A>G rs201453868 0.00010
NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser) rs200457209 0.00010
NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met) rs769575190 0.00010
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile) rs538961301 0.00010
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_054027.6(ANKH):c.*2236G>A rs201439698 0.00010
NM_058172.6(ANTXR2):c.*4703T>A rs199645652 0.00010
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro) rs370229918 0.00010
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln) rs144936138 0.00010
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr) rs369502542 0.00010
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln) rs144287432 0.00010
NM_173842.3(IL1RN):c.379C>T (p.Arg127Cys) rs148520303 0.00010
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) rs143208167 0.00010
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser) rs145838840 0.00010
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) rs34043251 0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu) rs1413246726 0.00009
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_000127.3(EXT1):c.-536G>A rs780662536 0.00009
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val) rs772795413 0.00009
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu) rs1348832741 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met) rs752708558 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000628.5(IL10RB):c.548C>G (p.Pro183Arg) rs141328537 0.00009
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val) rs756232510 0.00009
NM_001032283.3(TMPO):c.565+1531C>T rs199943517 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg) rs377578690 0.00009
NM_001111.5(ADAR):c.1392T>C (p.Asn464=) rs370763473 0.00009
NM_001111.5(ADAR):c.2762+6C>T rs371450928 0.00009
NM_001111.5(ADAR):c.865G>A (p.Asp289Asn) rs372242904 0.00009
NM_001122681.2(SH3BP2):c.1488+6C>T rs548212932 0.00009
NM_001122681.2(SH3BP2):c.587-3C>A rs368839407 0.00009
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_001282225.2(ADA2):c.1013A>G (p.Lys338Arg) rs573337330 0.00009
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001282225.2(ADA2):c.687C>T (p.Phe229=) rs2231488 0.00009
NM_001367624.2(ZNF469):c.*492G>A rs190108769 0.00009
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) rs577775261 0.00009
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) rs533072680 0.00009
NM_001370466.1(NOD2):c.*1013A>G rs549273021 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.590C>T (p.Ala197Val) rs375336137 0.00009
NM_001375808.2(LPIN2):c.*773C>T rs190290283 0.00009
NM_001375808.2(LPIN2):c.*810G>A rs769197357 0.00009
NM_001375808.2(LPIN2):c.1168+4A>G rs368340969 0.00009
NM_001375808.2(LPIN2):c.2624C>T (p.Pro875Leu) rs367929381 0.00009
NM_001457.4(FLNB):c.7794T>C (p.His2598=) rs140318342 0.00009
NM_001558.4(IL10RA):c.1023C>A (p.His341Gln) rs369418818 0.00009
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=) rs139576148 0.00009
NM_001558.4(IL10RA):c.706G>A (p.Val236Ile) rs35473928 0.00009
NM_001558.4(IL10RA):c.788G>A (p.Arg263Gln) rs145975996 0.00009
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) rs189825826 0.00009
NM_001611.5(ACP5):c.421T>G (p.Phe141Val) rs201716955 0.00009
NM_001611.5(ACP5):c.815G>A (p.Arg272His) rs150107007 0.00009
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001972.4(ELANE):c.366+9G>A rs200948740 0.00009
NM_001999.4(FBN2):c.*642A>G rs950545343 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002451.4(MTAP):c.*2638G>A rs556394357 0.00009
NM_002451.4(MTAP):c.*2660C>A rs78176424 0.00009
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343 0.00009
NM_002661.5(PLCG2):c.1934+4C>T rs370532346 0.00009
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala) rs748048199 0.00009
NM_003238.6(TGFB2):c.*1428T>C rs770610828 0.00009
NM_003238.6(TGFB2):c.*2352T>G rs537275941 0.00009
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=) rs1141040 0.00009
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr) rs541085532 0.00009
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566 0.00009
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr) rs758092761 0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly) rs113005222 0.00009
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_012275.3(IL36RN):c.244-6C>T rs374849220 0.00009
NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln) rs542606182 0.00009
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala) rs186169356 0.00009
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) rs199896513 0.00009
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) rs147891080 0.00009
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00009
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser) rs374205118 0.00009
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) rs180843163 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 0.00009
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656 0.00009
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His) rs150032325 0.00009
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 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_054027.6(ANKH):c.*1754G>A rs971385670 0.00009
NM_054027.6(ANKH):c.*5930C>T rs747178382 0.00009
NM_058172.6(ANTXR2):c.*4264T>A rs1055536755 0.00009
NM_058172.6(ANTXR2):c.-505G>C rs780730755 0.00009
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165 0.00009
NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln) rs199475868 0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln) rs200742741 0.00009
NM_173842.3(IL1RN):c.*605T>C rs965074033 0.00009
NM_173842.3(IL1RN):c.476C>T (p.Thr159Ile) rs550154177 0.00009
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) rs201284258 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198282.4(STING1):c.142G>T (p.Val48Leu) rs902177158 0.00009
NM_198282.4(STING1):c.929G>A (p.Arg310His) rs144683867 0.00009
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) rs376292686 0.00009
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys) rs765428225 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000138.5(FBN1):c.2294-14C>G rs201446948 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His) rs771803651 0.00008
NM_000628.5(IL10RB):c.*536G>T rs750248101 0.00008
NM_001032283.3(TMPO):c.565+1617A>G rs771185259 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001122681.2(SH3BP2):c.1350+6G>A rs766189842 0.00008
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val) rs536700699 0.00008
NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln) rs200098511 0.00008
NM_001282225.2(ADA2):c.754-5C>T rs530979152 0.00008
NM_001366385.1(CARD14):c.1012A>G (p.Met338Val) rs200132496 0.00008
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) rs549874193 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) rs886052390 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) rs767588443 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_001375808.2(LPIN2):c.*984T>C rs546238775 0.00008
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.2566C>G (p.Leu856Val) rs200839841 0.00008
NM_001611.5(ACP5):c.290G>A (p.Arg97His) rs777140546 0.00008
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001999.4(FBN2):c.*1118T>C rs776542113 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_002296.4(LBR):c.991C>T (p.Leu331Phe) rs201609720 0.00008
NM_002451.4(MTAP):c.*3389T>C rs765432220 0.00008
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile) rs186829827 0.00008
NM_002661.5(PLCG2):c.2581+10C>G rs367866295 0.00008
NM_002661.5(PLCG2):c.265C>T (p.Arg89Cys) rs199638859 0.00008
NM_002661.5(PLCG2):c.3571G>C (p.Glu1191Gln) rs746134531 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile) rs371598292 0.00008
NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr) rs375942302 0.00008
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn) rs766536496 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr) rs187211142 0.00008
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688 0.00008
NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe) rs1038499600 0.00008
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) rs144317897 0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val) rs143435050 0.00008
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=) rs371519713 0.00008
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr) rs773860532 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln) rs200757913 0.00008
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_053025.4(MYLK):c.5369-10T>G rs373584324 0.00008
NM_058172.6(ANTXR2):c.*380T>C rs1040964075 0.00008
NM_058172.6(ANTXR2):c.*559G>A rs755763454 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn) rs748314396 0.00008
NM_144687.4(NLRP12):c.2147T>C (p.Ile716Thr) rs201439784 0.00008
NM_144687.4(NLRP12):c.2440G>A (p.Gly814Arg) rs149903344 0.00008
NM_144687.4(NLRP12):c.2854G>A (p.Asp952Asn) rs140792345 0.00008
NM_173842.3(IL1RN):c.*75C>G rs4252026 0.00008
NM_183235.3(RAB27A):c.-3A>C rs553316776 0.00008
NM_198282.4(STING1):c.336G>A (p.Ala112=) rs377104086 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000127.3(EXT1):c.-667C>G rs886062643 0.00007
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 0.00007
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.2678-3C>T rs747274959 0.00007
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000142.5(FGFR3):c.1068G>A (p.Val356=) rs201947443 0.00007
NM_000243.3(MEFV):c.*721T>A rs1184351783 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser) rs104895185 0.00007
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000628.5(IL10RB):c.804+8G>A rs112943706 0.00007
NM_000628.5(IL10RB):c.946G>A (p.Gly316Arg) rs370841672 0.00007
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 0.00007
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) rs201753543 0.00007
NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser) rs143043887 0.00007
NM_001122681.2(SH3BP2):c.*3560C>T rs766523218 0.00007
NM_001122681.2(SH3BP2):c.240-16G>A rs752456141 0.00007
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly) rs150950016 0.00007
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr) rs780229500 0.00007
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=) rs201976178 0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val) rs587778711 0.00007
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) rs373300146 0.00007
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) rs551298094 0.00007
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser) rs767197520 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_001375808.2(LPIN2):c.*1026C>T rs529650414 0.00007
NM_001558.4(IL10RA):c.336C>T (p.Thr112=) rs192749274 0.00007
NM_001611.5(ACP5):c.80G>A (p.Arg27His) rs376043348 0.00007
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala) rs201480339 0.00007
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu) rs201772619 0.00007
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His) rs375240237 0.00007
NM_001854.4(COL11A1):c.*9C>G rs371551881 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_002451.4(MTAP):c.*1760A>G rs886063788 0.00007
NM_002451.4(MTAP):c.*3057T>A rs887122969 0.00007
NM_002451.4(MTAP):c.-52G>C rs949068748 0.00007
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg) rs764365358 0.00007
NM_002661.5(PLCG2):c.1072C>T (p.Leu358=) rs377757324 0.00007
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=) rs773778524 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) rs147275585 0.00007
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) rs139401611 0.00007
NM_003238.6(TGFB2):c.*1271A>G rs572446864 0.00007
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554 0.00007
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys) rs201136542 0.00007
NM_005546.4(ITK):c.139-6C>T rs780173849 0.00007
NM_005546.4(ITK):c.768+3A>G rs374214545 0.00007
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln) rs757486362 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile) rs372880215 0.00007
NM_012275.3(IL36RN):c.244-5G>A rs754661425 0.00007
NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp) rs375207169 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890 0.00007
NM_024408.4(NOTCH2):c.4860-3C>T rs752354633 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr) rs763103642 0.00007
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys) rs575392530 0.00007
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln) rs376438608 0.00007
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn) rs371325633 0.00007
NM_054027.6(ANKH):c.*793A>G rs377136068 0.00007
NM_058172.6(ANTXR2):c.*1099C>T rs939743640 0.00007
NM_058172.6(ANTXR2):c.*2306A>G rs1003608735 0.00007
NM_058172.6(ANTXR2):c.*3843G>A rs540121683 0.00007
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_144687.3(NLRP12):c.*430G>A rs886054602 0.00007
NM_144687.4(NLRP12):c.*126G>C rs199475872 0.00007
NM_144687.4(NLRP12):c.1886C>A (p.Ala629Asp) rs146250162 0.00007
NM_148919.4(PSMB8):c.386G>A (p.Arg129His) rs369078226 0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) rs764672057 0.00007
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701 0.00007
NM_173841.2(IL1RN):c.-95C>G rs1458187927 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) rs199764052 0.00007
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile) rs201181695 0.00007
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) rs771458366 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) rs559869925 0.00006
NM_000081.4(LYST):c.5919G>A (p.Leu1973=) rs748908539 0.00006
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln) rs745890180 0.00006
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe) rs772883826 0.00006
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser) rs750116273 0.00006
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.2921G>A (p.Arg974His) rs763094223 0.00006
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) rs564713154 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser) rs751472490 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000243.3(MEFV):c.*280G>C rs562541179 0.00006
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys) rs896909303 0.00006
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu) rs755178462 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784 0.00006
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val) rs756600025 0.00006
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser) rs538763801 0.00006
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp) rs11553674 0.00006
NM_000346.4(SOX9):c.1092G>A (p.Ala364=) rs754417848 0.00006
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000628.5(IL10RB):c.*616A>G rs886057009 0.00006
NM_000628.5(IL10RB):c.*761C>T rs567397652 0.00006
NM_000628.5(IL10RB):c.484G>A (p.Gly162Ser) rs770980693 0.00006
NM_000628.5(IL10RB):c.575G>A (p.Arg192Gln) rs147402422 0.00006
NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys) rs45469692 0.00006
NM_000628.5(IL10RB):c.742G>A (p.Val248Ile) rs777216483 0.00006
NM_001032283.3(TMPO):c.565+1213G>A rs368211058 0.00006
NM_001032283.3(TMPO):c.565+1317C>T rs376074187 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.565+2196A>G rs369840957 0.00006
NM_001032283.3(TMPO):c.565+2361G>T rs746160070 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001065.4(TNFRSF1A):c.*195G>A rs3202413 0.00006
NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala) rs200728879 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001111.5(ADAR):c.*884C>T rs556661959 0.00006
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp) rs371050239 0.00006
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro) rs142884797 0.00006
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg) rs756612053 0.00006
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 0.00006
NM_001122681.2(SH3BP2):c.*4776T>C rs886059380 0.00006
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp) rs745563984 0.00006
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu) rs376008602 0.00006
NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp) rs370829171 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys) rs776243893 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001127671.2(LIFR):c.465A>G (p.Leu155=) rs368371692 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg) rs756642619 0.00006
NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu) rs764987185 0.00006
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val) rs377203539 0.00006
NM_001243133.2(NLRP3):c.-407C>T rs12741165 0.00006
NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=) rs200269703 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001366385.1(CARD14):c.1082G>A (p.Arg361Gln) rs763738345 0.00006
NM_001366385.1(CARD14):c.1356+5G>A rs376524884 0.00006
NM_001366385.1(CARD14):c.1850T>C (p.Met617Thr) rs145521869 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser) rs755066385 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) rs866760637 0.00006
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) rs762487170 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 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_001375808.2(LPIN2):c.*1514G>C rs544570644 0.00006
NM_001375808.2(LPIN2):c.*2412C>T rs553336397 0.00006
NM_001375808.2(LPIN2):c.*725G>A rs886053755 0.00006
NM_001375808.2(LPIN2):c.*84A>G rs886053764 0.00006
NM_001375808.2(LPIN2):c.*897T>G rs886053752 0.00006
NM_001375808.2(LPIN2):c.-10+1170G>A rs751000184 0.00006
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.2261A>G (p.Lys754Arg) rs1028913918 0.00006
NM_001375808.2(LPIN2):c.2399C>T (p.Pro800Leu) rs748431474 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001558.4(IL10RA):c.*676C>T rs756303257 0.00006
NM_001558.4(IL10RA):c.1087_1095del (p.Gly363_Ser365del) rs56384274 0.00006
NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met) rs370255112 0.00006
NM_001558.4(IL10RA):c.289C>T (p.Arg97Trp) rs374330101 0.00006
NM_001558.4(IL10RA):c.734T>C (p.Leu245Pro) rs757461404 0.00006
NM_001558.4(IL10RA):c.751G>A (p.Ala251Thr) rs758334771 0.00006
NM_001558.4(IL10RA):c.785G>A (p.Arg262His) rs202121581 0.00006
NM_001558.4(IL10RA):c.851G>A (p.Arg284His) rs576666901 0.00006
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu) rs749622044 0.00006
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) rs765756315 0.00006
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln) rs749985898 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001754.5(RUNX1):c.917G>A (p.Arg306His) rs139336358 0.00006
NM_001844.5(COL2A1):c.*373G>C rs990523451 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=) rs529005717 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001852.4(COL9A2):c.*230C>T rs1057515525 0.00006
NM_001852.4(COL9A2):c.*683G>A rs1057515565 0.00006
NM_001852.4(COL9A2):c.-27C>A rs375579300 0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg) rs376722979 0.00006
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) rs376779544 0.00006
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.2115C>G (p.Thr705=) rs763844538 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038 0.00006
NM_001999.4(FBN2):c.5422+6T>G rs1000499022 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_002451.4(MTAP):c.278C>T (p.Thr93Ile) rs759117703 0.00006
NM_002451.4(MTAP):c.572C>T (p.Ala191Val) rs200708704 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) rs200865355 0.00006
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) rs759929786 0.00006
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile) rs754914807 0.00006
NM_002661.5(PLCG2):c.32C>T (p.Ala11Val) rs753458249 0.00006
NM_002661.5(PLCG2):c.3374A>G (p.Tyr1125Cys) rs374877793 0.00006
NM_002661.5(PLCG2):c.3496C>A (p.Pro1166Thr) rs374517633 0.00006
NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp) rs202108152 0.00006
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val) rs554363067 0.00006
NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe) rs375598204 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00006
NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val) rs143293318 0.00006
NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser) rs554069834 0.00006
NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys) rs549183501 0.00006
NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) rs747645870 0.00006
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr) rs146033784 0.00006
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) rs775793715 0.00006
NM_003238.6(TGFB2):c.*1034A>C rs932331054 0.00006
NM_003238.6(TGFB2):c.*1229T>C rs781757001 0.00006
NM_003238.6(TGFB2):c.*3193A>G rs1161476569 0.00006
NM_003238.6(TGFB2):c.*972A>C rs565195408 0.00006
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.*1637G>A rs1032978663 0.00006
NM_003242.6(TGFBR2):c.-337T>A rs1038796042 0.00006
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.1214G>A (p.Arg405His) rs754321842 0.00006
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser) rs375833261 0.00006
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) rs372931505 0.00006
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg) rs201061067 0.00006
NM_004612.4(TGFBR1):c.*2846A>G rs200238696 0.00006
NM_004612.4(TGFBR1):c.*4356A>G rs201446431 0.00006
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508 0.00006
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys) rs886039078 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu) rs142482733 0.00006
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) rs764599897 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_005902.4(SMAD3):c.*250C>A rs754034578 0.00006
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=) rs762363861 0.00006
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly) rs749085589 0.00006
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln) rs753695101 0.00006
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_006397.3(RNASEH2A):c.838C>T (p.Arg280Cys) rs375883546 0.00006
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) rs764614950 0.00006
NM_006929.4(SKIC2):c.-195C>T rs886061301 0.00006
NM_006929.4(SKIC2):c.-22A>T rs755276769 0.00006
NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser) rs149518958 0.00006
NM_006929.5(SKIC2):c.1404-15C>G rs764954300 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_012275.3(IL36RN):c.*6C>T rs189986394 0.00006
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg) rs187015338 0.00006
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) rs144182857 0.00006
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00006
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys) rs142436858 0.00006
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_022168.4(IFIH1):c.2299del (p.Thr767fs) rs759430873 0.00006
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040 0.00006
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn) rs768520868 0.00006
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His) rs202022988 0.00006
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln) rs192122939 0.00006
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) rs369664394 0.00006
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_024570.4(RNASEH2B):c.244+3A>G rs371461579 0.00006
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu) rs1340493334 0.00006
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00006
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg) rs749003546 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751 0.00006
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) rs781230863 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953 0.00006
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val) rs372983302 0.00006
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg) rs969675403 0.00006
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp) rs774464341 0.00006
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly) rs763445513 0.00006
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val) rs1331848000 0.00006
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val) rs1199811720 0.00006
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu) rs781592121 0.00006
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 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_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) rs1007504430 0.00006
NM_053025.4(MYLK):c.774-15C>G rs371552521 0.00006
NM_054027.6(ANKH):c.*1081C>T rs886060083 0.00006
NM_054027.6(ANKH):c.*1270A>C rs187733448 0.00006
NM_054027.6(ANKH):c.*3562G>T rs917646845 0.00006
NM_054027.6(ANKH):c.*5899A>G rs976896150 0.00006
NM_058172.6(ANTXR2):c.*3707G>A rs534524069 0.00006
NM_058172.6(ANTXR2):c.*4332G>A rs1053639062 0.00006
NM_058172.6(ANTXR2):c.*5524C>T rs927201999 0.00006
NM_130384.3(ATRIP):c.*495C>T rs377157141 0.00006
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp) rs112159191 0.00006
NM_144687.4(NLRP12):c.1550T>C (p.Phe517Ser) rs746890522 0.00006
NM_144687.4(NLRP12):c.1756C>T (p.His586Tyr) rs772704000 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_144687.4(NLRP12):c.2383C>T (p.Arg795Trp) rs762384329 0.00006
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys) rs139165669 0.00006
NM_144687.4(NLRP12):c.2911A>G (p.Arg971Gly) rs753280591 0.00006
NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr) rs151187420 0.00006
NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=) rs764841108 0.00006
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) rs529946385 0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) rs754578419 0.00006
NM_173170.1(IL36RN):c.-27-318G>A rs759570472 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198282.4(STING1):c.284G>A (p.Arg95His) rs1033930953 0.00006
NM_198282.4(STING1):c.757C>T (p.Arg253Trp) rs199795457 0.00006
NM_198282.4(STING1):c.760-3T>C rs759930084 0.00006
NM_198282.4(STING1):c.761C>T (p.Ala254Val) rs774690247 0.00006
NM_198282.4(STING1):c.992G>A (p.Arg331Gln) rs370524913 0.00006
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) rs532827189 0.00006
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly) rs199941833 0.00006
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) rs372237449 0.00006
NM_212482.4(FN1):c.6157+4T>C rs779209474 0.00006
NM_212482.4(FN1):c.862G>A (p.Asp288Asn) rs200731330 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000127.3(EXT1):c.-57G>C rs886062636 0.00005
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) rs794727601 0.00005
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys) rs769589759 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000243.3(MEFV):c.*579C>A rs1026430345 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln) rs370305686 0.00005
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys) rs763672034 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231 0.00005
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216 0.00005
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp) rs959635301 0.00005
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_000431.4(MVK):c.*333G>A rs770255513 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) rs752995216 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_001032283.3(TMPO):c.565+1107C>T rs750751621 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001065.4(TNFRSF1A):c.167C>T (p.Ser56Leu) rs199961053 0.00005
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) rs104895288 0.00005
NM_001111.5(ADAR):c.*1344G>A rs550673541 0.00005
NM_001111.5(ADAR):c.*885G>A rs149774073 0.00005
NM_001111.5(ADAR):c.1400G>A (p.Arg467His) rs192121167 0.00005
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser) rs755535385 0.00005
NM_001111.5(ADAR):c.2611G>A (p.Ala871Thr) rs769985255 0.00005
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_001122681.2(SH3BP2):c.*2464T>C rs886059366 0.00005
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val) rs527342066 0.00005
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys) rs767658389 0.00005
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu) rs751798471 0.00005
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser) rs143236581 0.00005
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu) rs879274205 0.00005
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=) rs748510736 0.00005
NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys) rs763410160 0.00005
NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr) rs188120749 0.00005
NM_001243133.2(NLRP3):c.-122T>C rs202234129 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) rs147154764 0.00005
NM_001282225.2(ADA2):c.1522G>A (p.Val508Met) rs767440845 0.00005
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279 0.00005
NM_001282225.2(ADA2):c.917G>A (p.Arg306Gln) rs768927379 0.00005
NM_001366385.1(CARD14):c.646G>A (p.Ala216Thr) rs574982768 0.00005
NM_001366385.1(CARD14):c.828G>A (p.Ser276=) rs150424747 0.00005
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) rs780722176 0.00005
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) rs387907063 0.00005
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00005
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883 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.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.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.789C>T (p.Asp263=) rs749180535 0.00005
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894 0.00005
NM_001375808.2(LPIN2):c.1711-3C>T rs753743998 0.00005
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448 0.00005
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503 0.00005
NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr) rs148441092 0.00005
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val) rs200227183 0.00005
NM_001558.4(IL10RA):c.943G>A (p.Gly315Ser) rs371381563 0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001611.5(ACP5):c.545G>A (p.Arg182His) rs778805198 0.00005
NM_001611.5(ACP5):c.757G>A (p.Val253Met) rs371116310 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln) rs751212530 0.00005
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu) rs199831035 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002451.4(MTAP):c.*2937C>G rs536527668 0.00005
NM_002451.4(MTAP):c.*3060A>G rs1179074073 0.00005
NM_002451.4(MTAP):c.*3206C>T rs886063793 0.00005
NM_002451.4(MTAP):c.*395A>G rs1050551130 0.00005
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys) rs369196744 0.00005
NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val) rs748644186 0.00005
NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile) rs552036893 0.00005
NM_002661.5(PLCG2):c.407C>T (p.Ala136Val) rs777990663 0.00005
NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr) rs142022471 0.00005
NM_002661.5(PLCG2):c.925G>A (p.Val309Met) rs768664050 0.00005
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp) rs774648274 0.00005
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) rs201481056 0.00005
NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) rs140933944 0.00005
NM_003238.6(TGFB2):c.-1249G>A rs1002933360 0.00005
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr) rs752823052 0.00005
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034 0.00005
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) rs1455462308 0.00005
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) rs113786548 0.00005
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361 0.00005
NM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys) rs374713985 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg) rs554059442 0.00005
NM_005902.4(SMAD3):c.*626C>T rs886051385 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.607+4A>C rs1465673227 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 0.00005
NM_006397.3(RNASEH2A):c.*68C>T rs564029348 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_006579.3(EBP):c.59A>C (p.Asn20Thr) rs144359050 0.00005
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_018699.4(PRDM5):c.1623+8T>C rs201965676 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095 0.00005
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp) rs552225415 0.00005
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) rs372710038 0.00005
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys) rs141878560 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu) rs190327832 0.00005
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) rs770882223 0.00005
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu) rs746197240 0.00005
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr) rs751621844 0.00005
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu) rs201645896 0.00005
NM_032193.4(RNASEH2C):c.*1532G>A rs376966597 0.00005
NM_032193.4(RNASEH2C):c.*541C>T rs756513194 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_054027.6(ANKH):c.*2393A>T rs963039838 0.00005
NM_054027.6(ANKH):c.*4635A>C rs1036873430 0.00005
NM_054027.6(ANKH):c.*6129G>A rs757736999 0.00005
NM_054027.6(ANKH):c.*999T>C rs957305303 0.00005
NM_058172.6(ANTXR2):c.*4668T>C rs544590235 0.00005
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val) rs372562244 0.00005
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp) rs199499401 0.00005
NM_144687.4(NLRP12):c.1130A>G (p.Tyr377Cys) rs760166759 0.00005
NM_144687.4(NLRP12):c.1951T>C (p.Ser651Pro) rs370478544 0.00005
NM_144687.4(NLRP12):c.1982A>C (p.Gln661Pro) rs201726924 0.00005
NM_144687.4(NLRP12):c.2771G>A (p.Arg924Gln) rs570948263 0.00005
NM_144687.4(NLRP12):c.610G>A (p.Glu204Lys) rs748313621 0.00005
NM_144687.4(NLRP12):c.752A>G (p.Asn251Ser) rs200679354 0.00005
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891 0.00005
NM_173841.3(IL1RN):c.58A>C (p.Asn20His) rs369994270 0.00005
NM_173842.3(IL1RN):c.418G>A (p.Ala140Thr) rs565499594 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) rs757297287 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) rs376754454 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala) rs559751044 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr) rs759733310 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1837+4C>T rs199950267 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.1951G>A (p.Val651Met) rs1335043561 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg) rs777826174 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00004
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu) rs1038114901 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser) rs375939213 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr) rs774658482 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 0.00004
NM_000243.3(MEFV):c.*695C>G rs1596349291 0.00004
NM_000243.3(MEFV):c.*761del rs886051967 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1130G>A (p.Arg377His) rs144998416 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.150G>A (p.Pro50=) rs376952748 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) rs375716505 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) rs748891586 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln) rs759918824 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511 0.00004
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026 0.00004
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315 0.00004
NM_000316.3(PTH1R):c.1353+8G>T rs201749357 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000431.4(MVK):c.1039+7C>T rs370291700 0.00004
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) rs747116992 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln) rs202022405 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000628.5(IL10RB):c.*515C>T rs767017864 0.00004
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg) rs371427406 0.00004
NM_001032283.3(TMPO):c.565+1310G>C rs779961791 0.00004
NM_001032283.3(TMPO):c.565+1414G>A rs1381728541 0.00004
NM_001032283.3(TMPO):c.565+1675A>G rs370366685 0.00004
NM_001032283.3(TMPO):c.565+2188C>T rs763238672 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001084.5(PLOD3):c.1448C>T (p.Ser483Leu) rs143759215 0.00004
NM_001084.5(PLOD3):c.976G>A (p.Asp326Asn) rs369736445 0.00004
NM_001111.5(ADAR):c.*2316G>A rs200367762 0.00004
NM_001111.5(ADAR):c.*2317C>T rs367964862 0.00004
NM_001111.5(ADAR):c.*590G>A rs908072891 0.00004
NM_001111.5(ADAR):c.*989C>T rs1485739737 0.00004
NM_001111.5(ADAR):c.-85G>A rs1470901197 0.00004
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln) rs149091481 0.00004
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp) rs751288252 0.00004
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr) rs761708272 0.00004
NM_001111.5(ADAR):c.1466G>A (p.Arg489Gln) rs751656552 0.00004
NM_001111.5(ADAR):c.1559A>C (p.Glu520Ala) rs916828871 0.00004
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala) rs556625861 0.00004
NM_001111.5(ADAR):c.1867A>G (p.Met623Val) rs1481646805 0.00004
NM_001111.5(ADAR):c.2314G>A (p.Val772Ile) rs763229776 0.00004
NM_001111.5(ADAR):c.2407G>T (p.Gly803Cys) rs1277475981 0.00004
NM_001111.5(ADAR):c.2762+10G>A rs879809934 0.00004
NM_001111.5(ADAR):c.3201G>A (p.Leu1067=) rs750105086 0.00004
NM_001111.5(ADAR):c.935A>T (p.Asp312Val) rs200192885 0.00004
NM_001122681.2(SH3BP2):c.*6660A>G rs886059390 0.00004
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln) rs200226629 0.00004
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu) rs137947663 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys) rs142735744 0.00004
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) rs201197278 0.00004
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe) rs1235042756 0.00004
NM_001127511.3(APC):c.-167G>A rs1278244063 0.00004
NM_001127671.2(LIFR):c.2462C>G (p.Pro821Arg) rs139248720 0.00004
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) rs780276741 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001199138.2(NLRC4):c.1090C>T (p.His364Tyr) rs1193792961 0.00004
NM_001199138.2(NLRC4):c.1162C>T (p.Arg388Trp) rs938626438 0.00004
NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln) rs565573487 0.00004
NM_001199138.2(NLRC4):c.1363C>T (p.Leu455Phe) rs763620987 0.00004
NM_001199138.2(NLRC4):c.1478A>G (p.Tyr493Cys) rs1234981264 0.00004
NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro) rs148732979 0.00004
NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln) rs760231283 0.00004
NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn) rs373084451 0.00004
NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr) rs374967155 0.00004
NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg) rs916856506 0.00004
NM_001199397.3(NEK1):c.2977C>G (p.Pro993Ala) rs745888585 0.00004
NM_001243133.2(NLRP3):c.-629C>T rs200090360 0.00004
NM_001243133.2(NLRP3):c.-74G>A rs202076321 0.00004
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) rs994458759 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) rs895366086 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.2835A>G (p.Glu945=) rs367694129 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) rs374170024 0.00004
NM_001270508.2(TNFAIP3):c.1182C>A (p.Phe394Leu) rs762710607 0.00004
NM_001282225.2(ADA2):c.1033G>A (p.Ala345Thr) rs752798667 0.00004
NM_001282225.2(ADA2):c.134G>A (p.Arg45Gln) rs571235882 0.00004
NM_001282225.2(ADA2):c.1442+6T>C rs369050563 0.00004
NM_001282225.2(ADA2):c.272A>G (p.His91Arg) rs149466386 0.00004
NM_001282225.2(ADA2):c.435G>C (p.Gln145His) rs752626692 0.00004
NM_001282225.2(ADA2):c.461G>A (p.Arg154His) rs545602214 0.00004
NM_001282225.2(ADA2):c.707A>G (p.Tyr236Cys) rs145966045 0.00004
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001353214.3(DYM):c.543T>G (p.Val181=) rs759683937 0.00004
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) rs773633754 0.00004
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser) rs201965466 0.00004
NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys) rs781101097 0.00004
NM_001366385.1(CARD14):c.45C>T (p.Asp15=) rs768959428 0.00004
NM_001366385.1(CARD14):c.544C>T (p.Arg182Cys) rs372403419 0.00004
NM_001366385.1(CARD14):c.694G>A (p.Glu232Lys) rs200837077 0.00004
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00004
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1719C>T (p.His573=) rs552893295 0.00004
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00004
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) rs748097865 0.00004
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650 0.00004
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) rs534464702 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 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.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.1918G>A (p.Glu640Lys) rs774425599 0.00004
NM_001370466.1(NOD2):c.1931T>G (p.Leu644Arg) rs754325924 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.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.2631G>A (p.Leu877=) rs142559533 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.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_001375808.2(LPIN2):c.*1559A>G rs886053748 0.00004
NM_001375808.2(LPIN2):c.*1810A>G rs886740636 0.00004
NM_001375808.2(LPIN2):c.*2724A>G rs886053744 0.00004
NM_001375808.2(LPIN2):c.*804G>A rs1294529732 0.00004
NM_001375808.2(LPIN2):c.*828T>G rs776259595 0.00004
NM_001375808.2(LPIN2):c.*834G>A rs886053753 0.00004
NM_001375808.2(LPIN2):c.-10+1219C>T rs762246311 0.00004
NM_001375808.2(LPIN2):c.1074G>A (p.Met358Ile) rs750095569 0.00004
NM_001375808.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312 0.00004
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val) rs781705610 0.00004
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys) rs571085377 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864 0.00004
NM_001375808.2(LPIN2):c.2434C>T (p.Arg812Cys) rs754916357 0.00004
NM_001375808.2(LPIN2):c.2450A>G (p.Tyr817Cys) rs759880645 0.00004
NM_001375808.2(LPIN2):c.2567T>G (p.Leu856Arg) rs768061281 0.00004
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys) rs371299772 0.00004
NM_001375808.2(LPIN2):c.959C>T (p.Thr320Ile) rs150648432 0.00004
NM_001558.4(IL10RA):c.*1722T>C rs886047714 0.00004
NM_001558.4(IL10RA):c.*543G>A rs940437717 0.00004
NM_001558.4(IL10RA):c.1414G>A (p.Gly472Ser) rs138626531 0.00004
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=) rs372503247 0.00004
NM_001558.4(IL10RA):c.1693C>A (p.Leu565Met) rs375201461 0.00004
NM_001558.4(IL10RA):c.17T>C (p.Val6Ala) rs768177135 0.00004
NM_001558.4(IL10RA):c.457G>A (p.Ala153Thr) rs144476761 0.00004
NM_001558.4(IL10RA):c.536C>T (p.Thr179Met) rs564148493 0.00004
NM_001558.4(IL10RA):c.67+15C>T rs886047708 0.00004
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) rs201184983 0.00004
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp) rs371591030 0.00004
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) rs922892618 0.00004
NM_001611.5(ACP5):c.386G>A (p.Arg129His) rs199580546 0.00004
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) rs146436811 0.00004
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser) rs1024960552 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile) rs757570529 0.00004
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser) rs752288830 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001852.4(COL9A2):c.*369C>T rs773649280 0.00004
NM_001852.4(COL9A2):c.1068G>A (p.Pro356=) rs752181922 0.00004
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg) rs887364532 0.00004
NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser) rs767106237 0.00004
NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu) rs201337557 0.00004
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001999.4(FBN2):c.*879C>T rs774452401 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_002317.7(LOX):c.1222T>C (p.Tyr408His) rs765126342 0.00004
NM_002451.4(MTAP):c.*3276A>G rs1038408600 0.00004
NM_002451.4(MTAP):c.*3774A>G rs949366316 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_002609.4(PDGFRB):c.2463+4C>T rs557338313 0.00004
NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn) rs752906992 0.00004
NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly) rs201391996 0.00004
NM_002661.5(PLCG2):c.1882G>C (p.Glu628Gln) rs778265649 0.00004
NM_002661.5(PLCG2):c.2099G>A (p.Arg700Gln) rs566611968 0.00004
NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu) rs761399374 0.00004
NM_002661.5(PLCG2):c.2191C>A (p.Leu731Met) rs377095061 0.00004
NM_002661.5(PLCG2):c.2235+5G>A rs756659964 0.00004
NM_002661.5(PLCG2):c.2307+4C>T rs745912221 0.00004
NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile) rs370187601 0.00004
NM_002661.5(PLCG2):c.2580C>T (p.Val860=) rs776770937 0.00004
NM_002661.5(PLCG2):c.2600A>G (p.Lys867Arg) rs767599145 0.00004
NM_002661.5(PLCG2):c.2894G>A (p.Ser965Asn) rs778362699 0.00004
NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp) rs771322094 0.00004
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser) rs372606303 0.00004
NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys) rs758825034 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_002661.5(PLCG2):c.564+19C>T rs564767670 0.00004
NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg) rs368738612 0.00004
NM_002661.5(PLCG2):c.97T>C (p.Phe33Leu) rs773040139 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys) rs370217718 0.00004
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu) rs781193859 0.00004
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709 0.00004
NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys) rs764909573 0.00004
NM_003183.6(ADAM17):c.1345-3A>G rs377134738 0.00004
NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn) rs200446953 0.00004
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu) rs765820179 0.00004
NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly) rs750249923 0.00004
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) rs142946965 0.00004
NM_003238.6(TGFB2):c.*2007C>T rs1007087694 0.00004
NM_003238.6(TGFB2):c.*2089A>C rs886045988 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu) rs750324465 0.00004
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg) rs749692412 0.00004
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser) rs753572174 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) rs757664433 0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) rs1018415204 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) rs370404621 0.00004
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp) rs748306987 0.00004
NM_003978.5(PSTPIP1):c.212A>G (p.Asn71Ser) rs961668608 0.00004
NM_003978.5(PSTPIP1):c.214T>C (p.Ser72Pro) rs866295227 0.00004
NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu) rs772549153 0.00004
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln) rs372461120 0.00004
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=) rs368685017 0.00004
NM_003978.5(PSTPIP1):c.839-16G>A rs776337082 0.00004
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg) rs751740362 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp) rs746522150 0.00004
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr) rs892805896 0.00004
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro) rs936973108 0.00004
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser) rs1027991203 0.00004
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe) rs1300977671 0.00004
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala) rs1250168874 0.00004
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp) rs1306818311 0.00004
NM_004371.4(COPA):c.2233C>T (p.Arg745Cys) rs763748181 0.00004
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004836.7(EIF2AK3):c.1651-4T>C rs750573955 0.00004
NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile) rs778387758 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=) rs759194108 0.00004
NM_005529.7(HSPG2):c.4868+4G>A rs200689461 0.00004
NM_005546.4(ITK):c.33C>A (p.Leu11=) rs765948222 0.00004
NM_005546.4(ITK):c.559C>T (p.Pro187Ser) rs1156578676 0.00004
NM_005902.4(SMAD3):c.*1316G>A rs996604810 0.00004
NM_005902.4(SMAD3):c.*789A>G rs191679355 0.00004
NM_005902.4(SMAD3):c.*805G>A rs770764038 0.00004
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val) rs191612061 0.00004
NM_006182.4(DDR2):c.418G>T (p.Val140Leu) rs756623313 0.00004
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His) rs766343269 0.00004
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=) rs767723275 0.00004
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu) rs369355807 0.00004
NM_006397.3(RNASEH2A):c.638-3C>T rs780614048 0.00004
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00004
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00004
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg) rs776131482 0.00004
NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val) rs746401418 0.00004
NM_006929.5(SKIC2):c.1890C>T (p.Arg630=) rs779331758 0.00004
NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala) rs142436411 0.00004
NM_006929.5(SKIC2):c.954C>T (p.Ala318=) rs577271106 0.00004
NM_006929.5(SKIC2):c.990C>T (p.Val330=) rs778024754 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_012275.3(IL36RN):c.*1540G>A rs886054770 0.00004
NM_012275.3(IL36RN):c.302A>T (p.Tyr101Phe) rs769214649 0.00004
NM_012275.3(IL36RN):c.349C>G (p.Pro117Ala) rs780273771 0.00004
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile) rs145323435 0.00004
NM_015474.4(SAMHD1):c.208+8C>T rs543987630 0.00004
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) rs767971429 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) rs183142477 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu) rs35207787 0.00004
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His) rs138611889 0.00004
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) rs747135877 0.00004
NM_022168.4(IFIH1):c.1641+4T>C rs931264780 0.00004
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn) rs749942019 0.00004
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln) rs1266522773 0.00004
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His) rs562743627 0.00004
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp) rs200810568 0.00004
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter) rs750804689 0.00004
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe) rs760588876 0.00004
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093 0.00004
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly) rs148623633 0.00004
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala) rs375449284 0.00004
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala) rs144853750 0.00004
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe) rs774782975 0.00004
NM_022168.4(IFIH1):c.769+4C>T rs748285029 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_024408.4(NOTCH2):c.2192A>G (p.His731Arg) rs782070613 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453 0.00004
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn) rs145336945 0.00004
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys) rs1450649026 0.00004
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile) rs144085962 0.00004
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 0.00004
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) rs372538600 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) rs201993620 0.00004
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser) rs141961602 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 0.00004
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile) rs541903338 0.00004
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) rs145465454 0.00004
NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp) rs1237024427 0.00004
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937 0.00004
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln) rs774950202 0.00004
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 0.00004
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn) rs200802557 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 0.00004
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro) rs863223732 0.00004
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln) rs774497964 0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694 0.00004
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser) rs959288629 0.00004
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112 0.00004
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln) rs776253021 0.00004
NM_031229.4(RBCK1):c.132A>T (p.Gln44His) rs145132343 0.00004
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys) rs749184826 0.00004
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile) rs371527119 0.00004
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val) rs780587700 0.00004
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu) rs111283441 0.00004
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val) rs758729708 0.00004
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys) rs144105841 0.00004
NM_031229.4(RBCK1):c.941G>A (p.Arg314His) rs759203606 0.00004
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) rs773527127 0.00004
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792 0.00004
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) rs779295406 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 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.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_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) rs730880164 0.00004
NM_054027.6(ANKH):c.*309G>C rs530153364 0.00004
NM_054027.6(ANKH):c.*4982T>C rs901092803 0.00004
NM_054027.6(ANKH):c.*833T>C rs995943291 0.00004
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_058172.6(ANTXR2):c.*3105A>G rs982853737 0.00004
NM_058172.6(ANTXR2):c.*4847C>T rs763414805 0.00004
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_144687.3(NLRP12):c.*402G>A rs886054603 0.00004
NM_144687.4(NLRP12):c.*161A>C rs370149877 0.00004
NM_144687.4(NLRP12):c.-68G>A rs746346212 0.00004
NM_144687.4(NLRP12):c.104C>T (p.Ala35Val) rs373357561 0.00004
NM_144687.4(NLRP12):c.1091G>A (p.Gly364Asp) rs376983164 0.00004
NM_144687.4(NLRP12):c.1102G>A (p.Ala368Thr) rs541068679 0.00004
NM_144687.4(NLRP12):c.1855G>A (p.Glu619Lys) rs139082917 0.00004
NM_144687.4(NLRP12):c.2015C>T (p.Ala672Val) rs376751517 0.00004
NM_144687.4(NLRP12):c.2044G>A (p.Ala682Thr) rs778688033 0.00004
NM_144687.4(NLRP12):c.2188G>C (p.Val730Leu) rs776527127 0.00004
NM_144687.4(NLRP12):c.2278G>A (p.Glu760Lys) rs202007906 0.00004
NM_144687.4(NLRP12):c.2572C>A (p.Leu858Ile) rs766678083 0.00004
NM_144687.4(NLRP12):c.2622C>T (p.Asp874=) rs368897676 0.00004
NM_144687.4(NLRP12):c.2753T>C (p.Leu918Pro) rs777228735 0.00004
NM_144687.4(NLRP12):c.289+13C>T rs776591533 0.00004
NM_144687.4(NLRP12):c.29T>C (p.Leu10Pro) rs775129261 0.00004
NM_144687.4(NLRP12):c.815G>A (p.Trp272Ter) rs752809784 0.00004
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327 0.00004
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) rs55835906 0.00004
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp) rs752232985 0.00004
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) rs371006338 0.00004
NM_173842.3(IL1RN):c.495C>T (p.Gly165=) rs368843442 0.00004
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met) rs55860727 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198282.4(STING1):c.32C>T (p.Pro11Leu) rs146423746 0.00004
NM_198282.4(STING1):c.398T>A (p.Leu133His) rs756483516 0.00004
NM_198282.4(STING1):c.548A>G (p.Asn183Ser) rs201277595 0.00004
NM_199242.3(UNC13D):c.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) rs781283626 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) rs769478020 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) rs148493676 0.00004
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser) rs181283286 0.00004
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) rs370342980 0.00004
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) rs751026014 0.00004
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys) rs200891393 0.00004
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val) rs370180533 0.00004
NM_212482.4(FN1):c.6002G>A (p.Arg2001His) rs749462589 0.00004
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val) rs1330217896 0.00004
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_000047.3(ARSL):c.280C>T (p.Leu94Phe) rs141210068 0.00003
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985 0.00003
NM_000081.4(LYST):c.10965G>C (p.Ala3655=) rs762254542 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile) rs371233961 0.00003
NM_000127.3(EXT1):c.1143C>T (p.Gly381=) rs376640197 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly) rs147847222 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val) rs746719632 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 0.00003
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His) rs780206348 0.00003
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser) rs1397580172 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp) rs772218768 0.00003
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=) rs755791719 0.00003
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_000243.3(MEFV):c.*1096A>T rs950693142 0.00003
NM_000243.3(MEFV):c.*797T>C rs552125584 0.00003
NM_000243.3(MEFV):c.*862A>C rs914879585 0.00003
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) rs779558690 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.1779T>A (p.Ala593=) rs377657099 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) rs758628487 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) rs797001768 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys) rs145289162 0.00003
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln) rs104895187 0.00003
NM_000243.3(MEFV):c.99G>A (p.Val33=) rs767848974 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682 0.00003
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys) rs138698098 0.00003
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648 0.00003
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile) rs370498584 0.00003
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys) rs754650948 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577 0.00003
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000431.4(MVK):c.*486C>T rs1359708981 0.00003
NM_000431.4(MVK):c.-33G>A rs886048930 0.00003
NM_000431.4(MVK):c.-55G>C rs886048929 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.999C>T (p.Gly333=) rs147904100 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000628.5(IL10RB):c.*546G>A rs886057006 0.00003
NM_000628.5(IL10RB):c.795C>A (p.His265Gln) rs373204116 0.00003
NM_000628.5(IL10RB):c.911G>A (p.Ser304Asn) rs762692366 0.00003
NM_001032283.3(TMPO):c.331G>C (p.Asp111His) rs201838047 0.00003
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly) rs765922156 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001032283.3(TMPO):c.565+2104A>G rs766567371 0.00003
NM_001032283.3(TMPO):c.565+2247C>T rs369379490 0.00003
NM_001032283.3(TMPO):c.565+2253C>T rs201929673 0.00003
NM_001032283.3(TMPO):c.565+2268A>T rs759832690 0.00003
NM_001032283.3(TMPO):c.565+2301A>G rs765153747 0.00003
NM_001032283.3(TMPO):c.565+2467T>A rs767216575 0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_001065.4(TNFRSF1A):c.1225C>T (p.Arg409Trp) rs1163833048 0.00003
NM_001065.4(TNFRSF1A):c.339G>A (p.Glu113=) rs587780965 0.00003
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=) rs373422284 0.00003
NM_001065.4(TNFRSF1A):c.532G>A (p.Glu178Lys) rs538872981 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001111.5(ADAR):c.*1406A>C rs886045325 0.00003
NM_001111.5(ADAR):c.*468G>A rs886045332 0.00003
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser) rs940393676 0.00003
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156 0.00003
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_001111.5(ADAR):c.2207G>A (p.Arg736His) rs147800502 0.00003
NM_001111.5(ADAR):c.2270+3G>T rs778624308 0.00003
NM_001111.5(ADAR):c.2437G>A (p.Ala813Thr) rs754179945 0.00003
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala) rs142456688 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001111.5(ADAR):c.592G>A (p.Ala198Thr) rs764385471 0.00003
NM_001111.5(ADAR):c.625G>A (p.Gly209Arg) rs767095635 0.00003
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser) rs751532191 0.00003
NM_001111.5(ADAR):c.746C>T (p.Ser249Leu) rs750380232 0.00003
NM_001122681.2(SH3BP2):c.*1947C>T rs770509235 0.00003
NM_001122681.2(SH3BP2):c.*5583G>A rs886059383 0.00003
NM_001122681.2(SH3BP2):c.*6037T>C rs886059385 0.00003
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser) rs759054470 0.00003
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg) rs146202519 0.00003
NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His) rs373119331 0.00003
NM_001122681.2(SH3BP2):c.167G>A (p.Arg56His) rs779608979 0.00003
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly) rs777468144 0.00003
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591 0.00003
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149 0.00003
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu) rs369270340 0.00003
NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala) rs146469368 0.00003
NM_001122681.2(SH3BP2):c.914C>T (p.Pro305Leu) rs555463039 0.00003
NM_001122681.2(SH3BP2):c.967A>G (p.Met323Val) rs1482037731 0.00003
NM_001127511.3(APC):c.-32C>T rs1015952631 0.00003
NM_001127511.3(APC):c.-88T>G rs531931776 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_001127671.2(LIFR):c.2010C>T (p.Cys670=) rs755322616 0.00003
NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=) rs760083976 0.00003
NM_001127671.2(LIFR):c.3086G>A (p.Arg1029Lys) rs1012911330 0.00003
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) rs72653752 0.00003
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) rs72657700 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001199138.2(NLRC4):c.136G>C (p.Val46Leu) rs530065673 0.00003
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser) rs779390608 0.00003
NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr) rs199475956 0.00003
NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln) rs751001500 0.00003
NM_001199138.2(NLRC4):c.2166T>G (p.Ser722Arg) rs776862990 0.00003
NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly) rs937306605 0.00003
NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met) rs753697675 0.00003
NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile) rs144418059 0.00003
NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser) rs1316364094 0.00003
NM_001199138.2(NLRC4):c.611G>A (p.Arg204His) rs763335197 0.00003
NM_001199138.2(NLRC4):c.929G>A (p.Arg310Gln) rs368415170 0.00003
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001243133.2(NLRP3):c.-339C>T rs201966092 0.00003
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) rs201644343 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val) rs745564372 0.00003
NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu) rs776897356 0.00003
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu) rs771315000 0.00003
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) rs201525433 0.00003
NM_001243133.2(NLRP3):c.502C>T (p.Arg168Ter) rs746159202 0.00003
NM_001282225.2(ADA2):c.1334T>C (p.Met445Thr) rs776544525 0.00003
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.133C>T (p.Arg45Trp) rs777683953 0.00003
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln) rs535337577 0.00003
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) rs147655483 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001360016.2(G6PD):c.120+3646C>T rs782367664 0.00003
NM_001366385.1(CARD14):c.1098C>T (p.Ser366=) rs749480979 0.00003
NM_001366385.1(CARD14):c.1460G>A (p.Arg487Gln) rs531888447 0.00003
NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys) rs372805579 0.00003
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile) rs148788573 0.00003
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.4224G>A (p.Pro1408=) rs940044560 0.00003
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418 0.00003
NM_001370466.1(NOD2):c.*186C>G rs886052045 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.1865T>C (p.Ile622Thr) rs367637762 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.230T>C (p.Ile77Thr) rs912789864 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.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 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.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_001375808.2(LPIN2):c.*252G>A rs886053762 0.00003
NM_001375808.2(LPIN2):c.*275C>G rs886053761 0.00003
NM_001375808.2(LPIN2):c.*2999C>A rs138807947 0.00003
NM_001375808.2(LPIN2):c.*448C>T rs886053759 0.00003
NM_001375808.2(LPIN2):c.*934G>C rs1032890815 0.00003
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) rs543890845 0.00003
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.1274C>T (p.Ser425Leu) rs772737665 0.00003
NM_001375808.2(LPIN2):c.2278C>T (p.Arg760Trp) rs371146662 0.00003
NM_001375808.2(LPIN2):c.2343G>T (p.Lys781Asn) rs765195065 0.00003
NM_001375808.2(LPIN2):c.2655C>A (p.Asp885Glu) rs140002239 0.00003
NM_001375808.2(LPIN2):c.377G>A (p.Gly126Asp) rs778376881 0.00003
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met) rs148620026 0.00003
NM_001375808.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598 0.00003
NM_001457.4(FLNB):c.1953C>T (p.Tyr651=) rs754981255 0.00003
NM_001558.4(IL10RA):c.*421A>C rs1200867723 0.00003
NM_001558.4(IL10RA):c.-54T>C rs886047705 0.00003
NM_001558.4(IL10RA):c.1040C>T (p.Thr347Met) rs747574092 0.00003
NM_001558.4(IL10RA):c.1281C>T (p.Pro427=) rs767275130 0.00003
NM_001558.4(IL10RA):c.16G>C (p.Val6Leu) rs989694807 0.00003
NM_001558.4(IL10RA):c.514C>T (p.Arg172Cys) rs773555674 0.00003
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp) rs780116316 0.00003
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) rs528748445 0.00003
NM_001611.5(ACP5):c.277G>A (p.Val93Ile) rs568576678 0.00003
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln) rs774878498 0.00003
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) rs148656335 0.00003
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) rs369579418 0.00003
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244 0.00003
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) rs371445823 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001852.4(COL9A2):c.*386C>T rs932745561 0.00003
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=) rs142974512 0.00003
NM_001852.4(COL9A2):c.741C>A (p.Gly247=) rs747133313 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_002070.4(GNAI2):c.879G>A (p.Gly293=) rs143863348 0.00003
NM_002451.4(MTAP):c.*2383C>T rs886063791 0.00003
NM_002451.4(MTAP):c.*3160T>C rs1228548595 0.00003
NM_002451.4(MTAP):c.*3501T>C rs949232383 0.00003
NM_002451.4(MTAP):c.300G>A (p.Glu100=) rs762121645 0.00003
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) rs763795192 0.00003
NM_002661.5(PLCG2):c.1852C>T (p.Arg618Cys) rs759496244 0.00003
NM_002661.5(PLCG2):c.2149G>A (p.Val717Ile) rs762414923 0.00003
NM_002661.5(PLCG2):c.2194C>T (p.Arg732Cys) rs369760877 0.00003
NM_002661.5(PLCG2):c.2235+3A>G rs544435013 0.00003
NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val) rs761876435 0.00003
NM_002661.5(PLCG2):c.2522A>G (p.Glu841Gly) rs756855626 0.00003
NM_002661.5(PLCG2):c.2588C>A (p.Ala863Asp) rs766006428 0.00003
NM_002661.5(PLCG2):c.3524T>C (p.Ile1175Thr) rs1265110994 0.00003
NM_002661.5(PLCG2):c.3650A>G (p.Tyr1217Cys) rs373013824 0.00003
NM_002661.5(PLCG2):c.542A>G (p.Lys181Arg) rs748418080 0.00003
NM_002661.5(PLCG2):c.61G>T (p.Ala21Ser) rs1248111391 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002904.6(NELFE):c.-86C>T rs886061300 0.00003
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln) rs748681103 0.00003
NM_003036.4(SKI):c.1767+11C>T rs202132957 0.00003
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.878G>A (p.Gly293Asp) rs756571135 0.00003
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr) rs777632615 0.00003
NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met) rs780454096 0.00003
NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu) rs765883520 0.00003
NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr) rs761836949 0.00003
NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn) rs749860291 0.00003
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser) rs758650568 0.00003
NM_003238.6(TGFB2):c.-569T>C rs886045972 0.00003
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.-682C>G rs886045963 0.00003
NM_003238.6(TGFB2):c.-794T>C rs886045960 0.00003
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile) rs757551766 0.00003
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser) rs141548795 0.00003
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003242.6(TGFBR2):c.*2425C>A rs886058329 0.00003
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu) rs371065077 0.00003
NM_003978.5(PSTPIP1):c.352A>C (p.Lys118Gln) rs1000642747 0.00003
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=) rs927470089 0.00003
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln) rs375294517 0.00003
NM_003978.5(PSTPIP1):c.642+3G>A rs765423624 0.00003
NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter) rs751668240 0.00003
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325 0.00003
NM_003978.5(PSTPIP1):c.924A>G (p.Ile308Met) rs748788047 0.00003
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) rs143126491 0.00003
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 0.00003
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192 0.00003
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg) rs775099224 0.00003
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val) rs1060502122 0.00003
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp) rs1555742243 0.00003
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326 0.00003
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser) rs1328994773 0.00003
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys) rs1408671093 0.00003
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val) rs957167825 0.00003
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) rs867463920 0.00003
NM_004371.4(COPA):c.1943G>A (p.Arg648His) rs746774599 0.00003
NM_004371.4(COPA):c.2393C>T (p.Pro798Leu) rs368086805 0.00003
NM_004612.4(TGFBR1):c.*1959G>T rs886063237 0.00003
NM_004612.4(TGFBR1):c.*3059A>G rs200138586 0.00003
NM_004612.4(TGFBR1):c.*3150C>T rs200525939 0.00003
NM_004612.4(TGFBR1):c.*4793A>G rs77001090 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) rs200518416 0.00003
NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr) rs777430061 0.00003
NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu) rs747698984 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.22A>G (p.Met8Val) rs572208458 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys) rs751653012 0.00003
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys) rs752260236 0.00003
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser) rs778350928 0.00003
NM_005546.4(ITK):c.287G>C (p.Arg96Pro) rs751865122 0.00003
NM_005902.4(SMAD3):c.*2573G>A rs886051418 0.00003
NM_005902.4(SMAD3):c.*552G>C rs769408016 0.00003
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser) rs140880290 0.00003
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val) rs370394986 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu) rs772510704 0.00003
NM_005902.4(SMAD3):c.981C>G (p.His327Gln) rs780274581 0.00003
NM_006397.3(RNASEH2A):c.*50T>C rs199822158 0.00003
NM_006397.3(RNASEH2A):c.-25A>G rs886054235 0.00003
NM_006397.3(RNASEH2A):c.407C>G (p.Thr136Ser) rs1459366188 0.00003
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) rs1033081366 0.00003
NM_006397.3(RNASEH2A):c.502G>T (p.Ala168Ser) rs772940870 0.00003
NM_006397.3(RNASEH2A):c.542G>A (p.Cys181Tyr) rs201041092 0.00003
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly) rs768983249 0.00003
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly) rs770898096 0.00003
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg) rs745764952 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp) rs138507648 0.00003
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln) rs768031925 0.00003
NM_006929.5(SKIC2):c.2566T>C (p.Leu856=) rs774246307 0.00003
NM_006929.5(SKIC2):c.2704G>A (p.Val902Met) rs578239723 0.00003
NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg) rs373527237 0.00003
NM_006929.5(SKIC2):c.3540+7A>G rs767834988 0.00003
NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val) rs774251531 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_012275.3(IL36RN):c.*1844A>G rs776033400 0.00003
NM_012275.3(IL36RN):c.*185C>T rs3207837 0.00003
NM_012275.3(IL36RN):c.*883T>C rs1044606674 0.00003
NM_012275.3(IL36RN):c.115+5G>A rs772037773 0.00003
NM_012275.3(IL36RN):c.130G>A (p.Val44Met) rs776622427 0.00003
NM_012275.3(IL36RN):c.188G>T (p.Gly63Val) rs746941547 0.00003
NM_012275.3(IL36RN):c.334G>A (p.Glu112Lys) rs143724424 0.00003
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563 0.00003
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) rs202022420 0.00003
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys) rs1271941628 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_018699.4(PRDM5):c.650+5G>A rs754469516 0.00003
NM_021803.4(IL21):c.119G>A (p.Arg40His) rs141748932 0.00003
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys) rs113854430 0.00003
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079 0.00003
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro) rs201917037 0.00003
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala) rs141748480 0.00003
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr) rs763096939 0.00003
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719 0.00003
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn) rs567418553 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.2305-2A>G rs199696786 0.00003
NM_022168.4(IFIH1):c.2447del (p.Met816fs) rs1349369420 0.00003
NM_022168.4(IFIH1):c.2616+6G>T rs761784724 0.00003
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr) rs748688202 0.00003
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs) rs1392296770 0.00003
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser) rs553228814 0.00003
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) rs143866883 0.00003
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) rs587641573 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His) rs767706572 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6343A>G (p.Ser2115Gly) rs34891988 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) rs145628676 0.00003
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990 0.00003
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) rs1278379367 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) rs139658777 0.00003
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024570.4(RNASEH2B):c.-145G>A rs1227696445 0.00003
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile) rs1292841062 0.00003
NM_024570.4(RNASEH2B):c.245-8A>G rs1057517815 0.00003
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126 0.00003
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr) rs199935006 0.00003
NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr) rs746633003 0.00003
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr) rs768415436 0.00003
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00003
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00003
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) rs372166877 0.00003
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532 0.00003
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) rs768345011 0.00003
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) rs760437795 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val) rs776373143 0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val) rs1232409954 0.00003
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp) rs764244683 0.00003
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg) rs371077650 0.00003
NM_031229.4(RBCK1):c.256G>C (p.Asp86His) rs759833242 0.00003
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln) rs568820415 0.00003
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile) rs372591105 0.00003
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg) rs772796019 0.00003
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met) rs766841580 0.00003
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg) rs546711324 0.00003
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu) rs746724862 0.00003
NM_032193.4(RNASEH2C):c.*29A>G rs886048499 0.00003
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 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_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_054027.6(ANKH):c.*2694T>C rs886060075 0.00003
NM_054027.6(ANKH):c.*2770C>T rs563898623 0.00003
NM_054027.6(ANKH):c.*5887G>C rs1054439108 0.00003
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_058172.6(ANTXR2):c.*1682T>C rs962595800 0.00003
NM_058172.6(ANTXR2):c.*3473A>G rs1427833463 0.00003
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val) rs530888685 0.00003
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226 0.00003
NM_144687.4(NLRP12):c.-2C>G rs142898715 0.00003
NM_144687.4(NLRP12):c.1109G>A (p.Arg370Lys) rs764966959 0.00003
NM_144687.4(NLRP12):c.1343G>C (p.Gly448Ala) rs104895566 0.00003
NM_144687.4(NLRP12):c.1645G>A (p.Ala549Thr) rs761571455 0.00003
NM_144687.4(NLRP12):c.1782G>A (p.Trp594Ter) rs953567955 0.00003
NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His) rs766112183 0.00003
NM_144687.4(NLRP12):c.2020G>T (p.Gly674Trp) rs139937024 0.00003
NM_144687.4(NLRP12):c.2052G>A (p.Ala684=) rs755768331 0.00003
NM_144687.4(NLRP12):c.206C>T (p.Ala69Val) rs372898890 0.00003
NM_144687.4(NLRP12):c.2072+4A>G rs887585784 0.00003
NM_144687.4(NLRP12):c.2623G>A (p.Glu875Lys) rs376225539 0.00003
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=) rs556001110 0.00003
NM_144687.4(NLRP12):c.308C>T (p.Pro103Leu) rs141436635 0.00003
NM_144687.4(NLRP12):c.311C>G (p.Ser104Cys) rs369508681 0.00003
NM_144687.4(NLRP12):c.3151C>T (p.Arg1051Ter) rs199475871 0.00003
NM_144687.4(NLRP12):c.35G>A (p.Arg12His) rs376754003 0.00003
NM_144687.4(NLRP12):c.622G>A (p.Glu208Lys) rs751219722 0.00003
NM_144687.4(NLRP12):c.84C>G (p.Phe28Leu) rs143182167 0.00003
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) rs145171629 0.00003
NM_148919.4(PSMB8):c.*231C>T rs539015992 0.00003
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) rs780859553 0.00003
NM_148919.4(PSMB8):c.537+8C>T rs767292865 0.00003
NM_173841.3(IL1RN):c.28G>C (p.Gly10Arg) rs770976676 0.00003
NM_173842.3(IL1RN):c.241C>G (p.Leu81Val) rs374268790 0.00003
NM_173842.3(IL1RN):c.374T>G (p.Phe125Cys) rs1253995385 0.00003
NM_173842.3(IL1RN):c.414T>C (p.Ser138=) rs146491054 0.00003
NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser) rs143317628 0.00003
NM_173842.3(IL1RN):c.79C>T (p.Pro27Ser) rs747206860 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp) rs1197819878 0.00003
NM_198282.4(STING1):c.503T>C (p.Leu168Pro) rs532530144 0.00003
NM_198282.4(STING1):c.688G>A (p.Gly230Ser) rs370230460 0.00003
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) rs1470381472 0.00003
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) rs762657738 0.00003
NM_207122.2(EXT2):c.626+3A>C rs200934340 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) rs138219703 0.00003
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) rs748276504 0.00003
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) rs766780476 0.00003
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu) rs923283804 0.00003
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) rs375667567 0.00003
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) rs755984905 0.00003
NM_000038.6(APC):c.1538T>C (p.Val513Ala) rs876658167 0.00002
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) rs760999992 0.00002
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000081.4(LYST):c.6181G>A (p.Gly2061Arg) rs745789615 0.00002
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000095.3(COMP):c.217+4A>G rs779140776 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe) rs763107867 0.00002
NM_000127.3(EXT1):c.1705G>A (p.Val569Met) rs1428345482 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro) rs758347621 0.00002
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp) rs765050783 0.00002
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln) rs748651137 0.00002
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.1220G>A (p.Gly407Asp) rs758241018 0.00002
NM_000138.5(FBN1):c.1370G>A (p.Arg457His) rs141217134 0.00002
NM_000138.5(FBN1):c.1468+4C>T rs765579667 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2854+5A>G rs762989672 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys) rs780301913 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val) rs2229324 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 0.00002
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly) rs749255004 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.346+6T>G rs371159129 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.4336+4A>C rs764099050 0.00002
NM_000138.5(FBN1):c.4337-3A>C rs770551687 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His) rs397515808 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=) rs143544916 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys) rs567397762 0.00002
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr) rs776999627 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg) rs748358548 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser) rs1464303112 0.00002
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.6616+5A>G rs1381778697 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln) rs748327743 0.00002
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu) rs775505429 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn) rs571906167 0.00002
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_000142.5(FGFR3):c.1645+8C>T rs372987620 0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His) rs143772138 0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) rs139000082 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1229G>A (p.Arg410His) rs1399033974 0.00002
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) rs762605919 0.00002
NM_000243.3(MEFV):c.1759+12G>A rs749730274 0.00002
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr) rs369069000 0.00002
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile) rs1028273722 0.00002
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly) rs138462251 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met) rs1422054832 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) rs746092199 0.00002
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln) rs376891162 0.00002
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys) rs766608226 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) rs769605806 0.00002
NM_000243.3(MEFV):c.745A>G (p.Thr249Ala) rs764952529 0.00002
NM_000243.3(MEFV):c.840G>A (p.Arg280=) rs748624682 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val) rs763906693 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.128G>A (p.Arg43His) rs141704997 0.00002
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828 0.00002
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln) rs150184664 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln) rs1282397747 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 0.00002
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp) rs746416126 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln) rs776949094 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu) rs760230526 0.00002
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp) rs370736543 0.00002
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser) rs200524993 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) rs781108404 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.747C>T (p.Gly249=) rs144788669 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000628.5(IL10RB):c.328G>A (p.Asp110Asn) rs757581728 0.00002
NM_000628.5(IL10RB):c.389G>A (p.Arg130His) rs775140370 0.00002
NM_000628.5(IL10RB):c.49+5G>A rs1053750670 0.00002
NM_000628.5(IL10RB):c.593G>A (p.Arg198Gln) rs774890824 0.00002
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu) rs772509210 0.00002
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr) rs147012167 0.00002
NM_001032283.3(TMPO):c.565+1078A>G rs774074641 0.00002
NM_001032283.3(TMPO):c.565+1246T>C rs144465114 0.00002
NM_001032283.3(TMPO):c.565+1449A>G rs754951098 0.00002
NM_001032283.3(TMPO):c.565+1597T>C rs1227785613 0.00002
NM_001032283.3(TMPO):c.565+1829dup rs1877366767 0.00002
NM_001032283.3(TMPO):c.565+2095A>C rs557983360 0.00002
NM_001032283.3(TMPO):c.565+2137A>G rs886049913 0.00002
NM_001032283.3(TMPO):c.565+2248G>A rs150445385 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr) rs1174108011 0.00002
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001065.4(TNFRSF1A):c.-62C>A rs563393671 0.00002
NM_001065.4(TNFRSF1A):c.11C>T (p.Ser4Phe) rs200593961 0.00002
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) rs104895274 0.00002
NM_001065.4(TNFRSF1A):c.823C>T (p.Pro275Ser) rs758118907 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001111.5(ADAR):c.*1728C>T rs886045322 0.00002
NM_001111.5(ADAR):c.*2636G>A rs1019588923 0.00002
NM_001111.5(ADAR):c.*317T>G rs886045335 0.00002
NM_001111.5(ADAR):c.*319del rs774214510 0.00002
NM_001111.5(ADAR):c.-154C>T rs1470021699 0.00002
NM_001111.5(ADAR):c.1565A>C (p.Asn522Thr) rs766604638 0.00002
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg) rs771516546 0.00002
NM_001111.5(ADAR):c.1702A>G (p.Ile568Val) rs755915771 0.00002
NM_001111.5(ADAR):c.172G>A (p.Gly58Arg) rs1208088462 0.00002
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala) rs764506305 0.00002
NM_001111.5(ADAR):c.1785+5G>A rs17843866 0.00002
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu) rs754467673 0.00002
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala) rs894373560 0.00002
NM_001111.5(ADAR):c.2206C>T (p.Arg736Cys) rs770309575 0.00002
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala) rs776268194 0.00002
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00002
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg) rs1236873184 0.00002
NM_001111.5(ADAR):c.341G>A (p.Arg114His) rs770167108 0.00002
NM_001111.5(ADAR):c.3519C>T (p.Tyr1173=) rs755264415 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725 0.00002
NM_001111.5(ADAR):c.566C>T (p.Ala189Val) rs182793061 0.00002
NM_001111.5(ADAR):c.59A>G (p.Tyr20Cys) rs754158375 0.00002
NM_001111.5(ADAR):c.755C>G (p.Ala252Gly) rs1314331716 0.00002
NM_001111.5(ADAR):c.762C>G (p.Asn254Lys) rs534876356 0.00002
NM_001122681.2(SH3BP2):c.*128T>C rs886059359 0.00002
NM_001122681.2(SH3BP2):c.*1489G>A rs886059364 0.00002
NM_001122681.2(SH3BP2):c.*3387G>A rs886059376 0.00002
NM_001122681.2(SH3BP2):c.*6061G>C rs886059386 0.00002
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val) rs1242360913 0.00002
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala) rs774058201 0.00002
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr) rs749171361 0.00002
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn) rs907019445 0.00002
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala) rs748160727 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys) rs369562627 0.00002
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His) rs772096716 0.00002
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly) rs753681184 0.00002
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg) rs765339575 0.00002
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met) rs375942374 0.00002
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys) rs769244623 0.00002
NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn) rs763881667 0.00002
NM_001122681.2(SH3BP2):c.788G>A (p.Arg263Gln) rs748657780 0.00002
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp) rs746025620 0.00002
NM_001127671.2(LIFR):c.2695G>A (p.Glu899Lys) rs915137068 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr) rs776463091 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr) rs957828732 0.00002
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695 0.00002
NM_001171.6(ABCC6):c.3506+15G>A rs72664302 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001199138.2(NLRC4):c.1047G>T (p.Met349Ile) rs1331116780 0.00002
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His) rs755228287 0.00002
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=) rs751915363 0.00002
NM_001199138.2(NLRC4):c.106G>A (p.Glu36Lys) rs766783309 0.00002
NM_001199138.2(NLRC4):c.1134T>G (p.His378Gln) rs779291946 0.00002
NM_001199138.2(NLRC4):c.1156T>C (p.Phe386Leu) rs1408462382 0.00002
NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys) rs144123569 0.00002
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=) rs200374202 0.00002
NM_001199138.2(NLRC4):c.1466G>C (p.Ser489Thr) rs780366620 0.00002
NM_001199138.2(NLRC4):c.1940G>A (p.Arg647Lys) rs1056856319 0.00002
NM_001199138.2(NLRC4):c.2112_2113del (p.Ser705fs) rs1271759184 0.00002
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=) rs117094017 0.00002
NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys) rs748341490 0.00002
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg) rs552117780 0.00002
NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg) rs771648968 0.00002
NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr) rs200612957 0.00002
NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys) rs374448922 0.00002
NM_001199138.2(NLRC4):c.829G>A (p.Val277Ile) rs770290700 0.00002
NM_001199138.2(NLRC4):c.863G>A (p.Arg288Gln) rs1453937196 0.00002
NM_001199397.3(NEK1):c.2020G>C (p.Gly674Arg) rs773244347 0.00002
NM_001243133.2(NLRP3):c.-203G>A rs1042817230 0.00002
NM_001243133.2(NLRP3):c.-219G>A rs1282180723 0.00002
NM_001243133.2(NLRP3):c.1102A>C (p.Ile368Leu) rs200735245 0.00002
NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=) rs201035625 0.00002
NM_001243133.2(NLRP3):c.1333C>T (p.Leu445Phe) rs202121800 0.00002
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) rs191754224 0.00002
NM_001243133.2(NLRP3):c.1384G>A (p.Ala462Thr) rs762512734 0.00002
NM_001243133.2(NLRP3):c.1390C>A (p.Leu464Ile) rs755565331 0.00002
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys) rs201678213 0.00002
NM_001243133.2(NLRP3):c.1661G>A (p.Arg554Gln) rs1558192523 0.00002
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) rs1024570390 0.00002
NM_001243133.2(NLRP3):c.2150+4A>G rs765108346 0.00002
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) rs759466218 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00002
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser) rs577683668 0.00002
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) rs765925466 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.3080C>T (p.Thr1027Ile) rs775502273 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001243133.2(NLRP3):c.865G>A (p.Val289Met) rs145092553 0.00002
NM_001270508.2(TNFAIP3):c.1757C>T (p.Ala586Val) rs756832433 0.00002
NM_001270508.2(TNFAIP3):c.929T>C (p.Ile310Thr) rs530310566 0.00002
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1173C>G (p.His391Gln) rs780182069 0.00002
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala) rs771622323 0.00002
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys) rs747458336 0.00002
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr) rs374965869 0.00002
NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp) rs753994372 0.00002
NM_001282225.2(ADA2):c.282G>C (p.Glu94Asp) rs761776202 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser) rs747107966 0.00002
NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile) rs755786336 0.00002
NM_001282225.2(ADA2):c.377G>A (p.Arg126Lys) rs765071162 0.00002
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys) rs200153182 0.00002
NM_001282225.2(ADA2):c.587T>C (p.Ile196Thr) rs538708563 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001282225.2(ADA2):c.881+6A>T rs759682181 0.00002
NM_001282225.2(ADA2):c.935G>A (p.Arg312Gln) rs746970158 0.00002
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) rs548495951 0.00002
NM_001366385.1(CARD14):c.288C>T (p.Asn96=) rs753859758 0.00002
NM_001366385.1(CARD14):c.366C>T (p.Ser122=) rs201505693 0.00002
NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys) rs752302933 0.00002
NM_001367624.2(ZNF469):c.*499A>G rs537339757 0.00002
NM_001367624.2(ZNF469):c.*792A>G rs886052424 0.00002
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) rs768501538 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) rs766852564 0.00002
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn) rs886881362 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) rs757816736 0.00002
NM_001370466.1(NOD2):c.*394C>T rs886052048 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.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln) rs757895989 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.2298G>A (p.Val766=) rs534738790 0.00002
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 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.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001375808.2(LPIN2):c.*1157T>C rs1240536600 0.00002
NM_001375808.2(LPIN2):c.*2710A>G rs760097342 0.00002
NM_001375808.2(LPIN2):c.*823G>A rs747730329 0.00002
NM_001375808.2(LPIN2):c.106G>A (p.Val36Ile) rs774019375 0.00002
NM_001375808.2(LPIN2):c.1118C>T (p.Pro373Leu) rs772230305 0.00002
NM_001375808.2(LPIN2):c.1154C>T (p.Pro385Leu) rs754221410 0.00002
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val) rs777239535 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222 0.00002
NM_001375808.2(LPIN2):c.1367C>T (p.Thr456Ile) rs368807055 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) rs201325845 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu) rs781778980 0.00002
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) rs183435741 0.00002
NM_001375808.2(LPIN2):c.200T>C (p.Ile67Thr) rs1385257235 0.00002
NM_001375808.2(LPIN2):c.2255A>G (p.Asn752Ser) rs767620772 0.00002
NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr) rs183821298 0.00002
NM_001375808.2(LPIN2):c.2408A>T (p.Gln803Leu) rs777924824 0.00002
NM_001375808.2(LPIN2):c.2420C>T (p.Ala807Val) rs752533626 0.00002
NM_001375808.2(LPIN2):c.2651G>A (p.Arg884Gln) rs781500548 0.00002
NM_001375808.2(LPIN2):c.367G>C (p.Val123Leu) rs777511827 0.00002
NM_001375808.2(LPIN2):c.374C>T (p.Ser125Leu) rs542116963 0.00002
NM_001375808.2(LPIN2):c.388A>G (p.Thr130Ala) rs191101701 0.00002
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln) rs749727482 0.00002
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu) rs762991925 0.00002
NM_001558.4(IL10RA):c.*576G>C rs773690502 0.00002
NM_001558.4(IL10RA):c.114T>A (p.Phe38Leu) rs200175106 0.00002
NM_001558.4(IL10RA):c.1181_1237del (p.Asn394_Ala413delinsThr) rs2058075257 0.00002
NM_001558.4(IL10RA):c.1247C>T (p.Thr416Ile) rs200254237 0.00002
NM_001558.4(IL10RA):c.1321G>A (p.Val441Met) rs748235778 0.00002
NM_001558.4(IL10RA):c.1369G>A (p.Ala457Thr) rs764129646 0.00002
NM_001558.4(IL10RA):c.1537A>G (p.Thr513Ala) rs376393999 0.00002
NM_001558.4(IL10RA):c.1718G>A (p.Ser573Asn) rs1338593881 0.00002
NM_001558.4(IL10RA):c.313G>A (p.Gly105Ser) rs188378450 0.00002
NM_001558.4(IL10RA):c.67+6G>T rs1182312522 0.00002
NM_001558.4(IL10RA):c.72A>C (p.Thr24=) rs560128585 0.00002
NM_001558.4(IL10RA):c.824C>T (p.Pro275Leu) rs763599491 0.00002
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) rs563929774 0.00002
NM_001611.5(ACP5):c.261+6T>C rs775396112 0.00002
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys) rs1231519014 0.00002
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu) rs776392911 0.00002
NM_001611.5(ACP5):c.581C>T (p.Ala194Val) rs755385110 0.00002
NM_001611.5(ACP5):c.622G>A (p.Val208Met) rs535257196 0.00002
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) rs762775321 0.00002
NM_001611.5(ACP5):c.839G>A (p.Arg280His) rs771458690 0.00002
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp) rs913182619 0.00002
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser) rs375523195 0.00002
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu) rs745604493 0.00002
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_001844.5(COL2A1):c.*331G>A rs1227723645 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001852.4(COL9A2):c.1782G>A (p.Thr594=) rs745727857 0.00002
NM_001852.4(COL9A2):c.472-10C>A rs372390684 0.00002
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001854.4(COL11A1):c.1350+11G>A rs747505977 0.00002
NM_001854.4(COL11A1):c.4300A>G (p.Met1434Val) rs772950506 0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654 0.00002
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile) rs1204127908 0.00002
NM_001999.4(FBN2):c.1093A>G (p.Met365Val) rs1401325502 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2178C>T (p.Ser726=) rs573282381 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2811A>G (p.Leu937=) rs1751336276 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val) rs779901706 0.00002
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser) rs868031420 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu) rs1464960068 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7712-11T>A rs776926809 0.00002
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly) rs1430209734 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys) rs541926152 0.00002
NM_002661.5(PLCG2):c.1279G>A (p.Asp427Asn) rs780141402 0.00002
NM_002661.5(PLCG2):c.127G>A (p.Val43Ile) rs370352962 0.00002
NM_002661.5(PLCG2):c.1343G>A (p.Arg448Gln) rs772575043 0.00002
NM_002661.5(PLCG2):c.1381C>T (p.Arg461Ter) rs778484571 0.00002
NM_002661.5(PLCG2):c.1557+5G>A rs375703615 0.00002
NM_002661.5(PLCG2):c.157G>A (p.Ala53Thr) rs532678378 0.00002
NM_002661.5(PLCG2):c.1743C>T (p.Gly581=) rs772593738 0.00002
NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly) rs776632754 0.00002
NM_002661.5(PLCG2):c.1896G>A (p.Thr632=) rs746397807 0.00002
NM_002661.5(PLCG2):c.1921C>A (p.His641Asn) rs573799583 0.00002
NM_002661.5(PLCG2):c.1943A>G (p.Tyr648Cys) rs766742207 0.00002
NM_002661.5(PLCG2):c.2098C>T (p.Arg700Trp) rs778773333 0.00002
NM_002661.5(PLCG2):c.2231A>G (p.Asn744Ser) rs762848692 0.00002
NM_002661.5(PLCG2):c.2486C>T (p.Thr829Ile) rs767593863 0.00002
NM_002661.5(PLCG2):c.2494T>C (p.Phe832Leu) rs368530152 0.00002
NM_002661.5(PLCG2):c.2497G>A (p.Glu833Lys) rs753762025 0.00002
NM_002661.5(PLCG2):c.2831A>G (p.Lys944Arg) rs777208551 0.00002
NM_002661.5(PLCG2):c.3127A>G (p.Met1043Val) rs201647862 0.00002
NM_002661.5(PLCG2):c.3341C>T (p.Ala1114Val) rs935810528 0.00002
NM_002661.5(PLCG2):c.3380C>G (p.Pro1127Arg) rs369259797 0.00002
NM_002661.5(PLCG2):c.3458A>G (p.Tyr1153Cys) rs146175110 0.00002
NM_002661.5(PLCG2):c.3544G>A (p.Val1182Ile) rs759887275 0.00002
NM_002661.5(PLCG2):c.3742A>C (p.Lys1248Gln) rs867313284 0.00002
NM_002661.5(PLCG2):c.3755G>C (p.Arg1252Thr) rs748492148 0.00002
NM_002661.5(PLCG2):c.3786G>C (p.Lys1262Asn) rs374430619 0.00002
NM_002661.5(PLCG2):c.652C>A (p.Leu218Ile) rs551539187 0.00002
NM_002661.5(PLCG2):c.933G>A (p.Met311Ile) rs368534849 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830 0.00002
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808 0.00002
NM_003036.4(SKI):c.1118G>A (p.Arg373His) rs768924434 0.00002
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911 0.00002
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu) rs752779978 0.00002
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys) rs377517039 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.892G>T (p.Ala298Ser) rs769113221 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys) rs750951308 0.00002
NM_003183.6(ADAM17):c.1648+4C>T rs368540920 0.00002
NM_003183.6(ADAM17):c.1723G>C (p.Asp575His) rs767693528 0.00002
NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser) rs756429621 0.00002
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu) rs372189309 0.00002
NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg) rs764293730 0.00002
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val) rs747536329 0.00002
NM_003238.6(TGFB2):c.*2509G>T rs967223935 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln) rs751650226 0.00002
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln) rs781392453 0.00002
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu) rs779872141 0.00002
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn) rs755611135 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 0.00002
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) rs768423844 0.00002
NM_003242.6(TGFBR2):c.*579T>C rs1259191128 0.00002
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser) rs147485470 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=) rs757597315 0.00002
NM_003978.5(PSTPIP1):c.1120-9C>G rs747139033 0.00002
NM_003978.5(PSTPIP1):c.1120A>C (p.Asn374His) rs757828114 0.00002
NM_003978.5(PSTPIP1):c.1183G>A (p.Gly395Ser) rs142544259 0.00002
NM_003978.5(PSTPIP1):c.308G>A (p.Arg103Gln) rs1250282129 0.00002
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853 0.00002
NM_003978.5(PSTPIP1):c.516+3G>A rs764658426 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.682C>T (p.Arg228Cys) rs781341816 0.00002
NM_003978.5(PSTPIP1):c.758G>A (p.Arg253Gln) rs775811275 0.00002
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096 0.00002
NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu) rs765187272 0.00002
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=) rs750823506 0.00002
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg) rs759108605 0.00002
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) rs1259370853 0.00002
NM_004364.5(CEBPA):c.*5C>T rs375735989 0.00002
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr) rs996435066 0.00002
NM_004364.5(CEBPA):c.252C>G (p.His84Gln) rs878854700 0.00002
NM_004364.5(CEBPA):c.261G>T (p.Gln87His) rs868242502 0.00002
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu) rs1033194020 0.00002
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg) rs1457318927 0.00002
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu) rs1269133775 0.00002
NM_004371.4(COPA):c.1406C>T (p.Ala469Val) rs761705607 0.00002
NM_004371.4(COPA):c.2960+6G>T rs763329682 0.00002
NM_004371.4(COPA):c.3025C>T (p.Arg1009Trp) rs764570410 0.00002
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys) rs772182530 0.00002
NM_004371.4(COPA):c.331G>A (p.Ala111Thr) rs377473059 0.00002
NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln) rs768877876 0.00002
NM_004612.4(TGFBR1):c.*3482C>G rs201952588 0.00002
NM_004612.4(TGFBR1):c.*4147G>A rs570685518 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln) rs561644406 0.00002
NM_004944.4(DNASE1L3):c.448G>A (p.Val150Met) rs146805633 0.00002
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) rs730880432 0.00002
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) rs971458513 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.292C>G (p.Gln98Glu) rs752682807 0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=) rs900156643 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp) rs755167311 0.00002
NM_005902.4(SMAD3):c.*1561A>T rs1275046716 0.00002
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile) rs773543026 0.00002
NM_005902.4(SMAD3):c.999G>A (p.Lys333=) rs781081744 0.00002
NM_006397.3(RNASEH2A):c.425C>T (p.Thr142Ile) rs373008346 0.00002
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_006397.3(RNASEH2A):c.488C>T (p.Thr163Met) rs1046057251 0.00002
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met) rs775597355 0.00002
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp) rs773112247 0.00002
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys) rs771858022 0.00002
NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln) rs764335100 0.00002
NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp) rs751980634 0.00002
NM_006929.5(SKIC2):c.2401A>G (p.Met801Val) rs369020218 0.00002
NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys) rs746407907 0.00002
NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu) rs140350010 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu) rs886054767 0.00002
NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln) rs752880718 0.00002
NM_012275.3(IL36RN):c.8T>C (p.Leu3Pro) rs766403906 0.00002
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val) rs751309562 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met) rs529220118 0.00002
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe) rs780617865 0.00002
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg) rs761306482 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) rs747675634 0.00002
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys) rs746897113 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His) rs745474856 0.00002
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) rs774309855 0.00002
NM_022168.4(IFIH1):c.2305-13A>G rs758206522 0.00002
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu) rs1165752336 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr) rs774361518 0.00002
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter) rs373854773 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_024408.4(NOTCH2):c.1015A>G (p.Ile339Val) rs1309062791 0.00002
NM_024408.4(NOTCH2):c.1194A>G (p.Gln398=) rs782486742 0.00002
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln) rs782269360 0.00002
NM_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe) rs1004494435 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) rs782536553 0.00002
NM_024408.4(NOTCH2):c.3461C>T (p.Ala1154Val) rs367562640 0.00002
NM_024408.4(NOTCH2):c.4093C>T (p.Arg1365Cys) rs987757552 0.00002
NM_024408.4(NOTCH2):c.4303C>T (p.Arg1435Trp) rs777091426 0.00002
NM_024408.4(NOTCH2):c.4454A>G (p.Asn1485Ser) rs771682706 0.00002
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) rs142978073 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6331A>G (p.Thr2111Ala) rs752915446 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024408.4(NOTCH2):c.6898C>T (p.Pro2300Ser) rs765911576 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024570.4(RNASEH2B):c.511-4A>G rs1252856173 0.00002
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala) rs371740577 0.00002
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu) rs1462322143 0.00002
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter) rs774043353 0.00002
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg) rs771560732 0.00002
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) rs775193384 0.00002
NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val) rs768117655 0.00002
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) rs750292263 0.00002
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) rs746480018 0.00002
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val) rs140312420 0.00002
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys) rs139858464 0.00002
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) rs777214287 0.00002
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg) rs374246708 0.00002
NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp) rs200565780 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr) rs780058786 0.00002
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys) rs539783215 0.00002
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) rs558025597 0.00002
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser) rs531364402 0.00002
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu) rs751582683 0.00002
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp) rs778995926 0.00002
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly) rs747821371 0.00002
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg) rs905456806 0.00002
NM_032193.3(RNASEH2C):c.-139G>T rs928515689 0.00002
NM_032193.4(RNASEH2C):c.*1504G>A rs886048489 0.00002
NM_032193.4(RNASEH2C):c.*1778C>G rs886048485 0.00002
NM_032193.4(RNASEH2C):c.*223G>A rs886048497 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys) rs1453336065 0.00002
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379 0.00002
NM_032193.4(RNASEH2C):c.348+6C>T rs779293116 0.00002
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 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.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 0.00002
NM_054027.6(ANKH):c.*1490T>C rs776755741 0.00002
NM_054027.6(ANKH):c.*1772C>T rs775380495 0.00002
NM_054027.6(ANKH):c.*3567G>C rs144789671 0.00002
NM_054027.6(ANKH):c.*4137G>C rs886060072 0.00002
NM_054027.6(ANKH):c.*5579G>A rs1200080153 0.00002
NM_054027.6(ANKH):c.*6006A>T rs1373491504 0.00002
NM_054027.6(ANKH):c.*781T>A rs886060086 0.00002
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_058172.6(ANTXR2):c.*1397G>A rs117533033 0.00002
NM_058172.6(ANTXR2):c.*1476G>A rs572394273 0.00002
NM_058172.6(ANTXR2):c.*1501G>T rs1470947336 0.00002
NM_058172.6(ANTXR2):c.*3533G>A rs746570017 0.00002
NM_058172.6(ANTXR2):c.*4194C>T rs1005734569 0.00002
NM_058172.6(ANTXR2):c.*5527A>G rs777700684 0.00002
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771 0.00002
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=) rs759890035 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_130384.3(ATRIP):c.*682C>T rs886058623 0.00002
NM_144687.4(NLRP12):c.*108T>C rs1255385830 0.00002
NM_144687.4(NLRP12):c.1231T>A (p.Cys411Ser) rs1369819341 0.00002
NM_144687.4(NLRP12):c.1330C>G (p.Gln444Glu) rs371528857 0.00002
NM_144687.4(NLRP12):c.13G>A (p.Ala5Thr) rs374037208 0.00002
NM_144687.4(NLRP12):c.1445G>A (p.Arg482Gln) rs1185856650 0.00002
NM_144687.4(NLRP12):c.1705G>A (p.Glu569Lys) rs753099958 0.00002
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu) rs569411184 0.00002
NM_144687.4(NLRP12):c.1807G>T (p.Gly603Cys) rs756202611 0.00002
NM_144687.4(NLRP12):c.2002G>A (p.Ala668Thr) rs1307240172 0.00002
NM_144687.4(NLRP12):c.2013C>A (p.Ser671Arg) rs781329641 0.00002
NM_144687.4(NLRP12):c.2055C>G (p.His685Gln) rs374387350 0.00002
NM_144687.4(NLRP12):c.2057C>G (p.Thr686Arg) rs756690369 0.00002
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val) rs202169378 0.00002
NM_144687.4(NLRP12):c.2363T>G (p.Met788Arg) rs752414417 0.00002
NM_144687.4(NLRP12):c.2414+5G>A rs775788855 0.00002
NM_144687.4(NLRP12):c.2458G>A (p.Ala820Thr) rs758809508 0.00002
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu) rs139956424 0.00002
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=) rs750552324 0.00002
NM_144687.4(NLRP12):c.25G>A (p.Gly9Ser) rs762604819 0.00002
NM_144687.4(NLRP12):c.2720G>T (p.Gly907Val) rs200511925 0.00002
NM_144687.4(NLRP12):c.2756+6T>C rs199476245 0.00002
NM_144687.4(NLRP12):c.2770C>T (p.Arg924Trp) rs761231693 0.00002
NM_144687.4(NLRP12):c.2800T>C (p.Ser934Pro) rs1379257772 0.00002
NM_144687.4(NLRP12):c.2819A>G (p.Asn940Ser) rs753465728 0.00002
NM_144687.4(NLRP12):c.2869G>A (p.Gly957Ser) rs149951954 0.00002
NM_144687.4(NLRP12):c.2932G>C (p.Asp978His) rs560028610 0.00002
NM_144687.4(NLRP12):c.3109A>G (p.Met1037Val) rs754830337 0.00002
NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys) rs781619673 0.00002
NM_144687.4(NLRP12):c.520C>G (p.Gln174Glu) rs770426590 0.00002
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) rs563974183 0.00002
NM_144687.4(NLRP12):c.550G>A (p.Ala184Thr) rs766308091 0.00002
NM_144687.4(NLRP12):c.632G>A (p.Arg211His) rs374108426 0.00002
NM_144687.4(NLRP12):c.665G>A (p.Gly222Asp) rs371385297 0.00002
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) rs148263031 0.00002
NM_144687.4(NLRP12):c.830C>T (p.Ala277Val) rs1170408810 0.00002
NM_144687.4(NLRP12):c.859G>A (p.Glu287Lys) rs752992130 0.00002
NM_144687.4(NLRP12):c.883_884del (p.Gly295fs) rs774533869 0.00002
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly) rs558277593 0.00002
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln) rs758313787 0.00002
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) rs779815259 0.00002
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile) rs940695600 0.00002
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp) rs1402857650 0.00002
NM_148919.4(PSMB8):c.434G>A (p.Arg145His) rs1222974201 0.00002
NM_148919.4(PSMB8):c.556G>A (p.Val186Met) rs78945358 0.00002
NM_148919.4(PSMB8):c.600G>A (p.Thr200=) rs777265725 0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_173841.3(IL1RN):c.20A>G (p.Tyr7Cys) rs137932510 0.00002
NM_173841.3(IL1RN):c.26A>T (p.Glu9Val) rs749244809 0.00002
NM_173842.3(IL1RN):c.*303C>G rs766555019 0.00002
NM_173842.3(IL1RN):c.259G>A (p.Gly87Arg) rs748958762 0.00002
NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn) rs138332136 0.00002
NM_173842.3(IL1RN):c.364C>T (p.Arg122Cys) rs114004306 0.00002
NM_173842.3(IL1RN):c.449T>C (p.Met150Thr) rs781018527 0.00002
NM_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_198282.4(STING1):c.1001G>A (p.Arg334Gln) rs758939417 0.00002
NM_198282.4(STING1):c.1006G>A (p.Glu336Lys) rs1268179693 0.00002
NM_198282.4(STING1):c.1049C>T (p.Ala350Val) rs143322684 0.00002
NM_198282.4(STING1):c.1127C>T (p.Thr376Met) rs370381358 0.00002
NM_198282.4(STING1):c.134G>A (p.Arg45Gln) rs762935025 0.00002
NM_198282.4(STING1):c.353C>T (p.Thr118Ile) rs1358836126 0.00002
NM_198282.4(STING1):c.589C>T (p.Arg197Trp) rs763892914 0.00002
NM_198282.4(STING1):c.637A>C (p.Ser213Arg) rs1342489613 0.00002
NM_198282.4(STING1):c.668A>G (p.Asp223Gly) rs746097569 0.00002
NM_198282.4(STING1):c.928C>T (p.Arg310Cys) rs763335050 0.00002
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.343G>A (p.Val115Met) rs1470293557 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.890G>A (p.Arg297His) rs773482624 0.00002
NM_212482.4(FN1):c.592G>A (p.Gly198Arg) rs561607931 0.00002
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile) rs149294265 0.00002
NM_212482.4(FN1):c.790G>A (p.Gly264Ser) rs950443871 0.00002
NM_212482.4(FN1):c.907C>T (p.Pro303Ser) rs750138959 0.00002
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) rs752874220 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.3515A>T (p.His1172Leu) rs1024630299 0.00001
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) rs1479009365 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) rs748389037 0.00001
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) rs773201570 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) rs767691072 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) rs757874563 0.00001
NM_000047.3(ARSL):c.1419A>G (p.Thr473=) rs755373707 0.00001
NM_000047.3(ARSL):c.1629G>A (p.Gln543=) rs753971115 0.00001
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe) rs431825308 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys) rs1369698547 0.00001
NM_000081.4(LYST):c.1848C>T (p.Asn616=) rs376259384 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val) rs1178179147 0.00001
NM_000081.4(LYST):c.4266C>A (p.Ala1422=) rs764207947 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.6931C>T (p.Leu2311=) rs764843145 0.00001
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile) rs764879928 0.00001
NM_000089.4(COL1A2):c.1198-12A>G rs1292046736 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln) rs869025374 0.00001
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys) rs747106682 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000127.3(EXT1):c.*182A>C rs949394800 0.00001
NM_000127.3(EXT1):c.-717G>C rs1381790284 0.00001
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys) rs757411850 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys) rs1375505148 0.00001
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys) rs750748090 0.00001
NM_000127.3(EXT1):c.1504G>A (p.Val502Met) rs778048374 0.00001
NM_000127.3(EXT1):c.1536+6C>T rs765347315 0.00001
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) rs1368926188 0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp) rs777698557 0.00001
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu) rs1305323658 0.00001
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg) rs1309175788 0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val) rs1823254644 0.00001
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp) rs146967463 0.00001
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn) rs1252579899 0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val) rs773393953 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg) rs1188494289 0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His) rs376231630 0.00001
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu) rs778849200 0.00001
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly) rs1384997375 0.00001
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg) rs146127753 0.00001
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu) rs752226935 0.00001
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg) rs773394301 0.00001
NM_000127.3(EXT1):c.419G>T (p.Gly140Val) rs769557488 0.00001
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys) rs776678803 0.00001
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser) rs753036738 0.00001
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu) rs906230630 0.00001
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp) rs1394508840 0.00001
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.-7C>T rs752581747 0.00001
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln) rs536588176 0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe) rs1191931914 0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr) rs766162654 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1146C>T (p.Thr382=) rs889875676 0.00001
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn) rs1405173549 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala) rs749467972 0.00001
NM_000138.5(FBN1):c.1177A>G (p.Met393Val) rs983129867 0.00001
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val) rs1257581073 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys) rs759323371 0.00001
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp) rs767068276 0.00001
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) rs371985966 0.00001
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala) rs763431921 0.00001
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile) rs373751659 0.00001
NM_000138.5(FBN1):c.149A>T (p.His50Leu) rs886039132 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1560G>C (p.Gln520His) rs143253318 0.00001
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser) rs754364317 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val) rs759813328 0.00001
NM_000138.5(FBN1):c.164+6G>A rs760968439 0.00001
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr) rs112269822 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1686T>G (p.His562Gln) rs1220088131 0.00001
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro) rs1166519673 0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys) rs772574901 0.00001
NM_000138.5(FBN1):c.1826G>A (p.Arg609His) rs770393471 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp) rs794728180 0.00001
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp) rs1238689648 0.00001
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu) rs1436966674 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 0.00001
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg) rs769708437 0.00001
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser) rs745694291 0.00001
NM_000138.5(FBN1):c.2106G>T (p.Gln702His) rs778835898 0.00001
NM_000138.5(FBN1):c.2115G>A (p.Ala705=) rs932764622 0.00001
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) rs794728184 0.00001
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) rs777526851 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2294-19A>G rs1353634853 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr) rs1488064078 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg) rs756111066 0.00001
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser) rs1220842179 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 0.00001
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu) rs1411365281 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser) rs752117227 0.00001
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu) rs751985082 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr) rs748915171 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val) rs990134651 0.00001
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn) rs778867355 0.00001
NM_000138.5(FBN1):c.3340A>G (p.Ile1114Val) rs1006702602 0.00001
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln) rs201336778 0.00001
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser) rs1437464599 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg) rs777727844 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3464-3C>T rs770992241 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu) rs1057520181 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu) rs150912619 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu) rs775532488 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr) rs774003646 0.00001
NM_000138.5(FBN1):c.370A>G (p.Met124Val) rs764224168 0.00001
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=) rs536369260 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr) rs993279983 0.00001
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 0.00001
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly) rs1655998227 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) rs1373690375 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4087+6T>A rs746201265 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly) rs1309215883 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val) rs560230585 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu) rs746205136 0.00001
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln) rs201546777 0.00001
NM_000138.5(FBN1):c.4581T>C (p.Val1527=) rs2043340510 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser) rs1254024310 0.00001
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln) rs753491504 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala) rs959567666 0.00001
NM_000138.5(FBN1):c.4748-9T>C rs760640909 0.00001
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu) rs772818208 0.00001
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn) rs1363357978 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00001
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00001
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser) rs767451077 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln) rs768366890 0.00001
NM_000138.5(FBN1):c.4943-3T>C rs367594261 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys) rs1228647846 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met) rs2043292832 0.00001
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile) rs2043270857 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe) rs1232797551 0.00001
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile) rs745636786 0.00001
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser) rs775463311 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His) rs764203302 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys) rs750720912 0.00001
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His) rs779174265 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val) rs367586350 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg) rs746473206 0.00001
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser) rs749606552 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg) rs748230405 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn) rs377671719 0.00001
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly) rs1057036462 0.00001
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser) rs921321822 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys) rs1219570062 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=) rs1478813051 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln) rs753703844 0.00001
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys) rs777877864 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6496+3G>A rs750222196 0.00001
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser) rs770132403 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn) rs746666535 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.687C>G (p.His229Gln) rs1391600366 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.6997+15C>T rs1453967282 0.00001
NM_000138.5(FBN1):c.6997+3G>A rs1270425478 0.00001
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly) rs886042199 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr) rs548057493 0.00001
NM_000138.5(FBN1):c.722C>T (p.Thr241Met) rs747049980 0.00001
NM_000138.5(FBN1):c.7330+5G>A rs1330909386 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu) rs1555394410 0.00001
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser) rs1252037822 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu) rs199524640 0.00001
NM_000138.5(FBN1):c.757A>G (p.Ile253Val) rs1422959121 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg) rs781113082 0.00001
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=) rs1184032259 0.00001
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met) rs138558987 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr) rs746859988 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser) rs756819682 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser) rs1566889839 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser) rs759494825 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) rs794728340 0.00001
NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp) rs757532651 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val) rs1253681259 0.00001
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val) rs1372306620 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.827G>T (p.Gly276Val) rs534859193 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met) rs1427984176 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) rs794728286 0.00001
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly) rs376933421 0.00001
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His) rs1306203757 0.00001
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe) rs755903722 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser) rs363848 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala) rs758035051 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000138.5(FBN1):c.968C>T (p.Pro323Leu) rs1183175645 0.00001
NM_000138.5(FBN1):c.987A>G (p.Ile329Met) rs1289726476 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000138.5(FBN1):c.995G>A (p.Arg332His) rs748929044 0.00001
NM_000142.5(FGFR3):c.1075+8C>T rs779181976 0.00001
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=) rs756833829 0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu) rs569408054 0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu) rs1060502568 0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys) rs1232060384 0.00001
NM_000243.3(MEFV):c.*1080A>G rs568129540 0.00001
NM_000243.3(MEFV):c.*19C>T rs761376734 0.00001
NM_000243.3(MEFV):c.*543C>T rs886051970 0.00001
NM_000243.3(MEFV):c.*690G>T rs1308863589 0.00001
NM_000243.3(MEFV):c.101A>C (p.Gln34Pro) rs1959117792 0.00001
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser) rs756751963 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1131C>T (p.Arg377=) rs149941578 0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg) rs755659290 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys) rs758485822 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met) rs760827469 0.00001
NM_000243.3(MEFV):c.1455G>A (p.Glu485=) rs958054431 0.00001
NM_000243.3(MEFV):c.1485G>A (p.Arg495=) rs1012455878 0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly) rs772349671 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) rs952604863 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) rs780770024 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr) rs1958893897 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr) rs1439074921 0.00001
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu) rs1432156641 0.00001
NM_000243.3(MEFV):c.2045dup (p.Ser683fs) rs1242998026 0.00001
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu) rs534682649 0.00001
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) rs566082564 0.00001
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu) rs1487302096 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu) rs876661026 0.00001
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly) rs748264438 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr) rs1430125672 0.00001
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs) rs753946287 0.00001
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val) rs1459541096 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala) rs1342717419 0.00001
NM_000243.3(MEFV):c.30G>A (p.Leu10=) rs553819712 0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) rs756029520 0.00001
NM_000243.3(MEFV):c.32C>G (p.Ser11Cys) rs149693562 0.00001
NM_000243.3(MEFV):c.377G>T (p.Gly126Val) rs1390689550 0.00001
NM_000243.3(MEFV):c.401C>T (p.Pro134Leu) rs377250147 0.00001
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn) rs145078602 0.00001
NM_000243.3(MEFV):c.405C>T (p.Tyr135=) rs766323718 0.00001
NM_000243.3(MEFV):c.411C>T (p.Gly137=) rs1266277814 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg) rs1959088372 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro) rs104895211 0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) rs777199024 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.552C>T (p.Gly184=) rs1488496414 0.00001
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg) rs1266566289 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr) rs1390723147 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 0.00001
NM_000243.3(MEFV):c.651G>C (p.Ala217=) rs886051971 0.00001
NM_000243.3(MEFV):c.66G>A (p.Glu22=) rs569040282 0.00001
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp) rs104895181 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) rs754679070 0.00001
NM_000243.3(MEFV):c.704C>T (p.Ser235Leu) rs757793348 0.00001
NM_000243.3(MEFV):c.726C>T (p.Ser242=) rs104895127 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) rs753623518 0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) rs775020273 0.00001
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) rs1437746739 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.922G>T (p.Asp308Tyr) rs368322244 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr) rs1379609898 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) rs201764329 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr) rs367592901 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys) rs764179880 0.00001
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile) rs773517731 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp) rs1204551467 0.00001
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser) rs758780380 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His) rs773170096 0.00001
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val) rs376017234 0.00001
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln) rs755654001 0.00001
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys) rs748841458 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220 0.00001
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val) rs1415378080 0.00001
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 0.00001
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser) rs750416079 0.00001
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys) rs534314930 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645 0.00001
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile) rs776894307 0.00001
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser) rs748920493 0.00001
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649 0.00001
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692 0.00001
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000316.3(PTH1R):c.595C>T (p.Leu199=) rs1336354545 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser) rs1429553692 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000431.4(MVK):c.*550G>A rs886048936 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) rs1314369808 0.00001
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) rs1055952433 0.00001
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.210G>T (p.Leu70=) rs199811011 0.00001
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412 0.00001
NM_000431.4(MVK):c.313G>A (p.Glu105Lys) rs1458440007 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) rs202172198 0.00001
NM_000431.4(MVK):c.631+3A>G rs1178525841 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000431.4(MVK):c.886-2dup rs1332047942 0.00001
NM_000431.4(MVK):c.89C>T (p.Ala30Val) rs769000203 0.00001
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991 0.00001
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val) rs766139231 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 0.00001
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met) rs2046938247 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000628.5(IL10RB):c.*519A>G rs1339192870 0.00001
NM_000628.5(IL10RB):c.122A>G (p.Glu41Gly) rs753650110 0.00001
NM_000628.5(IL10RB):c.311C>T (p.Thr104Ile) rs1989178743 0.00001
NM_000628.5(IL10RB):c.421G>A (p.Glu141Lys) rs387907326 0.00001
NM_000628.5(IL10RB):c.446A>G (p.Tyr149Cys) rs1186719026 0.00001
NM_000628.5(IL10RB):c.610T>C (p.Trp204Arg) rs1989311645 0.00001
NM_000628.5(IL10RB):c.641A>G (p.His214Arg) rs949664612 0.00001
NM_000628.5(IL10RB):c.647-14A>C rs45526732 0.00001
NM_000628.5(IL10RB):c.650C>T (p.Thr217Met) rs746250523 0.00001
NM_000628.5(IL10RB):c.673G>A (p.Val225Ile) rs765506701 0.00001
NM_000628.5(IL10RB):c.707T>C (p.Leu236Pro) rs752218442 0.00001
NM_000628.5(IL10RB):c.804G>A (p.Glu268=) rs767451280 0.00001
NM_000628.5(IL10RB):c.889G>A (p.Val297Ile) rs911014085 0.00001
NM_000628.5(IL10RB):c.913G>A (p.Gly305Ser) rs376143910 0.00001
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe) rs1490105931 0.00001
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser) rs767796798 0.00001
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr) rs987636941 0.00001
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln) rs774853700 0.00001
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) rs778356103 0.00001
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser) rs529351559 0.00001
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg) rs200943582 0.00001
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg) rs1001615865 0.00001
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe) rs183244086 0.00001
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly) rs1430201856 0.00001
NM_001032283.3(TMPO):c.565+1053A>G rs769778970 0.00001
NM_001032283.3(TMPO):c.565+1084T>A rs767247716 0.00001
NM_001032283.3(TMPO):c.565+1104A>C rs764732034 0.00001
NM_001032283.3(TMPO):c.565+1128G>A rs770791830 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1155A>G rs1235766643 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001032283.3(TMPO):c.565+1183C>T rs762263378 0.00001
NM_001032283.3(TMPO):c.565+1275A>G rs763320036 0.00001
NM_001032283.3(TMPO):c.565+1282T>C rs886049912 0.00001
NM_001032283.3(TMPO):c.565+1297C>T rs560525921 0.00001
NM_001032283.3(TMPO):c.565+1305T>G rs201730568 0.00001
NM_001032283.3(TMPO):c.565+1318A>G rs754640974 0.00001
NM_001032283.3(TMPO):c.565+1327T>C rs1325196944 0.00001
NM_001032283.3(TMPO):c.565+1384A>G rs766401550 0.00001
NM_001032283.3(TMPO):c.565+1390A>G rs780719278 0.00001
NM_001032283.3(TMPO):c.565+1471C>T rs779303657 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001032283.3(TMPO):c.565+1567C>T rs202166461 0.00001
NM_001032283.3(TMPO):c.565+1576T>C rs747232440 0.00001
NM_001032283.3(TMPO):c.565+1623C>G rs902009254 0.00001
NM_001032283.3(TMPO):c.565+1626C>G rs1555203864 0.00001
NM_001032283.3(TMPO):c.565+1648A>G rs1057524856 0.00001
NM_001032283.3(TMPO):c.565+1654T>C rs753527126 0.00001
NM_001032283.3(TMPO):c.565+1662T>G rs200367787 0.00001
NM_001032283.3(TMPO):c.565+1805A>C rs767027388 0.00001
NM_001032283.3(TMPO):c.565+1809G>A rs1450805694 0.00001
NM_001032283.3(TMPO):c.565+1911A>G rs754188509 0.00001
NM_001032283.3(TMPO):c.565+1949C>G rs750502531 0.00001
NM_001032283.3(TMPO):c.565+1968G>A rs1051007448 0.00001
NM_001032283.3(TMPO):c.565+2079C>T rs144269053 0.00001
NM_001032283.3(TMPO):c.565+2092C>A rs563175204 0.00001
NM_001032283.3(TMPO):c.565+2236C>G rs746645331 0.00001
NM_001032283.3(TMPO):c.565+2260C>T rs367769644 0.00001
NM_001032283.3(TMPO):c.565+2331A>G rs1319585944 0.00001
NM_001032283.3(TMPO):c.565+2347T>C rs1450811229 0.00001
NM_001032283.3(TMPO):c.565+2367C>T rs772424658 0.00001
NM_001032283.3(TMPO):c.565+2409T>G rs759247844 0.00001
NM_001032283.3(TMPO):c.565+2431C>G rs1435432542 0.00001
NM_001032283.3(TMPO):c.565+2488G>A rs779219922 0.00001
NM_001032283.3(TMPO):c.565+999C>T rs138259721 0.00001
NM_001042492.3(NF1):c.-148C>A rs886052792 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 0.00001
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565 0.00001
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr) rs876659779 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 0.00001
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863 0.00001
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His) rs149003051 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His) rs769391944 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met) rs786203824 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln) rs1567618937 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 0.00001
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser) rs1555536370 0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg) rs864622266 0.00001
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val) rs1555536748 0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001065.4(TNFRSF1A):c.*148C>T rs543718521 0.00001
NM_001065.4(TNFRSF1A):c.*38C>T rs200297634 0.00001
NM_001065.4(TNFRSF1A):c.1000A>G (p.Ile334Val) rs1178535061 0.00001
NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys) rs745458338 0.00001
NM_001065.4(TNFRSF1A):c.1058-8C>G rs764636915 0.00001
NM_001065.4(TNFRSF1A):c.1058-9T>G rs899753301 0.00001
NM_001065.4(TNFRSF1A):c.1099C>T (p.Pro367Ser) rs1490936362 0.00001
NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu) rs561674960 0.00001
NM_001065.4(TNFRSF1A):c.1238G>A (p.Arg413Gln) rs1310241012 0.00001
NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly) rs1454639907 0.00001
NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=) rs199780452 0.00001
NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly) rs1243645113 0.00001
NM_001065.4(TNFRSF1A):c.1312G>C (p.Glu438Gln) rs745814061 0.00001
NM_001065.4(TNFRSF1A):c.1325G>A (p.Cys442Tyr) rs770656568 0.00001
NM_001065.4(TNFRSF1A):c.159A>G (p.Gln53=) rs773708644 0.00001
NM_001065.4(TNFRSF1A):c.16G>A (p.Val6Met) rs772424047 0.00001
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) rs34751757 0.00001
NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr) rs104895290 0.00001
NM_001065.4(TNFRSF1A):c.323-3C>G rs1328399119 0.00001
NM_001065.4(TNFRSF1A):c.344C>T (p.Ser115Phe) rs748818440 0.00001
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) rs104895278 0.00001
NM_001065.4(TNFRSF1A):c.382A>G (p.Arg128Gly) rs1592047526 0.00001
NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=) rs747164054 0.00001
NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln) rs104895257 0.00001
NM_001065.4(TNFRSF1A):c.40-5C>G rs757941488 0.00001
NM_001065.4(TNFRSF1A):c.455G>C (p.Gly152Ala) rs762635729 0.00001
NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=) rs201015273 0.00001
NM_001065.4(TNFRSF1A):c.59T>C (p.Val20Ala) rs1254356365 0.00001
NM_001065.4(TNFRSF1A):c.62G>C (p.Gly21Ala) rs1180778404 0.00001
NM_001065.4(TNFRSF1A):c.687C>A (p.Phe229Leu) rs766811013 0.00001
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=) rs201358363 0.00001
NM_001065.4(TNFRSF1A):c.80T>A (p.Val27Asp) rs753595201 0.00001
NM_001065.4(TNFRSF1A):c.810C>A (p.Asn270Lys) rs773534506 0.00001
NM_001065.4(TNFRSF1A):c.811C>T (p.Pro271Ser) rs202207247 0.00001
NM_001065.4(TNFRSF1A):c.855C>G (p.Phe285Leu) rs760573195 0.00001
NM_001065.4(TNFRSF1A):c.949C>T (p.Pro317Ser) rs201619736 0.00001
NM_001065.4(TNFRSF1A):c.977C>A (p.Ala326Glu) rs1183554136 0.00001
NM_001065.4(TNFRSF1A):c.997C>T (p.Pro333Ser) rs1338161780 0.00001
NM_001083116.3(PRF1):c.1001G>A (p.Gly334Asp) rs780544163 0.00001
NM_001083116.3(PRF1):c.1226C>T (p.Pro409Leu) rs1278094424 0.00001
NM_001083116.3(PRF1):c.248G>A (p.Gly83Asp) rs769928225 0.00001
NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr) rs763389567 0.00001
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys) rs1557177091 0.00001
NM_001111.5(ADAR):c.*1454C>G rs967668970 0.00001
NM_001111.5(ADAR):c.*1871A>G rs1228582826 0.00001
NM_001111.5(ADAR):c.*479T>C rs185835529 0.00001
NM_001111.5(ADAR):c.*527A>G rs886045330 0.00001
NM_001111.5(ADAR):c.*812C>T rs747246150 0.00001
NM_001111.5(ADAR):c.*825G>A rs145743236 0.00001
NM_001111.5(ADAR):c.-71T>C rs886045346 0.00001
NM_001111.5(ADAR):c.1006G>T (p.Asp336Tyr) rs763575197 0.00001
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr) rs750785381 0.00001
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu) rs763695856 0.00001
NM_001111.5(ADAR):c.1062T>G (p.His354Gln) rs767103774 0.00001
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg) rs770795921 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.1207A>G (p.Met403Val) rs762748379 0.00001
NM_001111.5(ADAR):c.1315A>G (p.Asn439Asp) rs1040011158 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.1457G>T (p.Gly486Val) rs1275238356 0.00001
NM_001111.5(ADAR):c.1556G>A (p.Cys519Tyr) rs1404371210 0.00001
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) rs374014885 0.00001
NM_001111.5(ADAR):c.1843C>T (p.Pro615Ser) rs1179154225 0.00001
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049 0.00001
NM_001111.5(ADAR):c.1898G>A (p.Arg633His) rs748307559 0.00001
NM_001111.5(ADAR):c.1960G>A (p.Ala654Thr) rs1203975739 0.00001
NM_001111.5(ADAR):c.196C>G (p.Pro66Ala) rs1314856456 0.00001
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe) rs1367119670 0.00001
NM_001111.5(ADAR):c.2042A>G (p.His681Arg) rs762924757 0.00001
NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu) rs121912423 0.00001
NM_001111.5(ADAR):c.2140A>G (p.Arg714Gly) rs1697539238 0.00001
NM_001111.5(ADAR):c.2152G>A (p.Glu718Lys) rs1280463566 0.00001
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln) rs200754665 0.00001
NM_001111.5(ADAR):c.2173A>G (p.Thr725Ala) rs1697536698 0.00001
NM_001111.5(ADAR):c.2196G>A (p.Leu732=) rs939759749 0.00001
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn) rs754538298 0.00001
NM_001111.5(ADAR):c.2263G>A (p.Glu755Lys) rs758150130 0.00001
NM_001111.5(ADAR):c.2283A>G (p.Gln761=) rs186310208 0.00001
NM_001111.5(ADAR):c.2320G>A (p.Ala774Thr) rs368419418 0.00001
NM_001111.5(ADAR):c.2368C>T (p.Arg790Cys) rs1429411421 0.00001
NM_001111.5(ADAR):c.2415A>G (p.Thr805=) rs1298874562 0.00001
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334 0.00001
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114 0.00001
NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser) rs775500671 0.00001
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro) rs1261780777 0.00001
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr) rs1424630296 0.00001
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val) rs767879893 0.00001
NM_001111.5(ADAR):c.2886-5T>C rs201213195 0.00001
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu) rs886045339 0.00001
NM_001111.5(ADAR):c.2929A>C (p.Ser977Arg) rs766544371 0.00001
NM_001111.5(ADAR):c.2932G>A (p.Asp978Asn) rs1288413218 0.00001
NM_001111.5(ADAR):c.2935C>T (p.Arg979Cys) rs369346345 0.00001
NM_001111.5(ADAR):c.2960G>A (p.Arg987His) rs760200045 0.00001
NM_001111.5(ADAR):c.302G>C (p.Ser101Thr) rs763972905 0.00001
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln) rs965662260 0.00001
NM_001111.5(ADAR):c.307G>C (p.Gly103Arg) rs1248454035 0.00001
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591 0.00001
NM_001111.5(ADAR):c.31G>A (p.Gly11Arg) rs747039563 0.00001
NM_001111.5(ADAR):c.3298A>G (p.Ile1100Val) rs778334248 0.00001
NM_001111.5(ADAR):c.3305A>G (p.Asn1102Ser) rs1321911338 0.00001
NM_001111.5(ADAR):c.340C>T (p.Arg114Cys) rs200286478 0.00001
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala) rs200084726 0.00001
NM_001111.5(ADAR):c.3443+3A>G rs746915200 0.00001
NM_001111.5(ADAR):c.3449G>A (p.Arg1150Gln) rs779950072 0.00001
NM_001111.5(ADAR):c.3460T>C (p.Ser1154Pro) rs887707722 0.00001
NM_001111.5(ADAR):c.3514C>T (p.Arg1172Cys) rs752914135 0.00001
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) rs866441514 0.00001
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys) rs979532140 0.00001
NM_001111.5(ADAR):c.3645C>G (p.Pro1215=) rs886045338 0.00001
NM_001111.5(ADAR):c.412G>A (p.Asp138Asn) rs1232376686 0.00001
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499 0.00001
NM_001111.5(ADAR):c.419A>C (p.Glu140Ala) rs753539550 0.00001
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg) rs763767761 0.00001
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) rs762094056 0.00001
NM_001111.5(ADAR):c.557A>G (p.Gln186Arg) rs375311213 0.00001
NM_001111.5(ADAR):c.55G>A (p.Gly19Ser) rs746103046 0.00001
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332 0.00001
NM_001111.5(ADAR):c.661C>T (p.Pro221Ser) rs752904311 0.00001
NM_001111.5(ADAR):c.686C>T (p.Pro229Leu) rs1338472867 0.00001
NM_001111.5(ADAR):c.691G>A (p.Asp231Asn) rs772751856 0.00001
NM_001111.5(ADAR):c.722T>A (p.Leu241His) rs1472127685 0.00001
NM_001111.5(ADAR):c.754G>T (p.Ala252Ser) rs1354088100 0.00001
NM_001111.5(ADAR):c.820C>A (p.Pro274Thr) rs779977985 0.00001
NM_001111.5(ADAR):c.869C>G (p.Pro290Arg) rs1284913091 0.00001
NM_001111.5(ADAR):c.944C>G (p.Ala315Gly) rs761347223 0.00001
NM_001111.5(ADAR):c.962A>G (p.Asn321Ser) rs760376737 0.00001
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800 0.00001
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr) rs770793371 0.00001
NM_001122681.2(SH3BP2):c.*3106A>T rs886059369 0.00001
NM_001122681.2(SH3BP2):c.*3111C>G rs886059370 0.00001
NM_001122681.2(SH3BP2):c.*3667G>A rs886059377 0.00001
NM_001122681.2(SH3BP2):c.*88T>C rs886059358 0.00001
NM_001122681.2(SH3BP2):c.-4-1590C>T rs372664062 0.00001
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe) rs773105147 0.00001
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg) rs1724890588 0.00001
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly) rs1453717053 0.00001
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln) rs781072584 0.00001
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val) rs372762732 0.00001
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr) rs764213233 0.00001
NM_001122681.2(SH3BP2):c.127C>G (p.Leu43Val) rs368574144 0.00001
NM_001122681.2(SH3BP2):c.1292C>T (p.Pro431Leu) rs754582989 0.00001
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del) rs1724993599 0.00001
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile) rs773282036 0.00001
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys) rs946632787 0.00001
NM_001122681.2(SH3BP2):c.1426C>T (p.Pro476Ser) rs776527305 0.00001
NM_001122681.2(SH3BP2):c.1430G>A (p.Arg477Gln) rs762558421 0.00001
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr) rs1725036218 0.00001
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=) rs748012203 0.00001
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly) rs751799854 0.00001
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly) rs1172008192 0.00001
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn) rs765023340 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.1675G>T (p.Gly559Trp) rs776809624 0.00001
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu) rs775642148 0.00001
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe) rs532591178 0.00001
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp) rs372066896 0.00001
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter) rs890566926 0.00001
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys) rs760277294 0.00001
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln) rs781060795 0.00001
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys) rs769545519 0.00001
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg) rs140532510 0.00001
NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr) rs777574434 0.00001
NM_001122681.2(SH3BP2):c.463G>A (p.Ala155Thr) rs766158687 0.00001
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg) rs779050688 0.00001
NM_001122681.2(SH3BP2):c.586+5G>T rs758216830 0.00001
NM_001122681.2(SH3BP2):c.605C>T (p.Pro202Leu) rs921887620 0.00001
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met) rs1281385097 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp) rs201459890 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu) rs753445987 0.00001
NM_001122681.2(SH3BP2):c.796C>T (p.Pro266Ser) rs1418589091 0.00001
NM_001122681.2(SH3BP2):c.803C>G (p.Pro268Arg) rs148592718 0.00001
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter) rs1282774369 0.00001
NM_001122681.2(SH3BP2):c.862G>A (p.Ala288Thr) rs756606586 0.00001
NM_001122681.2(SH3BP2):c.886T>C (p.Cys296Arg) rs1724878185 0.00001
NM_001122681.2(SH3BP2):c.892C>T (p.Arg298Trp) rs776406405 0.00001
NM_001122681.2(SH3BP2):c.893G>A (p.Arg298Gln) rs1042293143 0.00001
NM_001122681.2(SH3BP2):c.930del (p.Gly311fs) rs762935038 0.00001
NM_001122681.2(SH3BP2):c.932G>A (p.Gly311Asp) rs147908313 0.00001
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser) rs1312017070 0.00001
NM_001127671.2(LIFR):c.1984T>C (p.Cys662Arg) rs1358104388 0.00001
NM_001167.4(XIAP):c.*10A>G rs536914095 0.00001
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1603T>C (p.Ser535Pro) rs72653773 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro) rs768271196 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2070+5G>A rs72664208 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser) rs1192373126 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) rs1412967184 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2643G>T (p.Arg881Ser) rs72653800 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499 0.00001
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg) rs1555508972 0.00001
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) rs63749998 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) rs63751112 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_001199138.2(NLRC4):c.1+5G>T rs1687216554 0.00001
NM_001199138.2(NLRC4):c.1079C>T (p.Thr360Ile) rs1166830231 0.00001
NM_001199138.2(NLRC4):c.1082C>T (p.Thr361Met) rs762565505 0.00001
NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr) rs756625023 0.00001
NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr) rs1290542567 0.00001
NM_001199138.2(NLRC4):c.1331A>C (p.Lys444Thr) rs1269189081 0.00001
NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met) rs1206027883 0.00001
NM_001199138.2(NLRC4):c.1400T>C (p.Val467Ala) rs774262869 0.00001
NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln) rs1375814112 0.00001
NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val) rs377414343 0.00001
NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg) rs1386496419 0.00001
NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr) rs369233701 0.00001
NM_001199138.2(NLRC4):c.1764_1765del (p.Gly589fs) rs1553347146 0.00001
NM_001199138.2(NLRC4):c.1769A>G (p.Asn590Ser) rs113124376 0.00001
NM_001199138.2(NLRC4):c.176T>G (p.Leu59Trp) rs925367132 0.00001
NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser) rs199475957 0.00001
NM_001199138.2(NLRC4):c.1839A>C (p.Lys613Asn) rs763616041 0.00001
NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala) rs770833707 0.00001
NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg) rs1396559252 0.00001
NM_001199138.2(NLRC4):c.222G>C (p.Lys74Asn) rs549981671 0.00001
NM_001199138.2(NLRC4):c.2306T>C (p.Ile769Thr) rs778144161 0.00001
NM_001199138.2(NLRC4):c.2614+1G>A rs780894375 0.00001
NM_001199138.2(NLRC4):c.262+4A>T rs947899957 0.00001
NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg) rs760166121 0.00001
NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys) rs1283568725 0.00001
NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile) rs745846903 0.00001
NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter) rs199685258 0.00001
NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val) rs898392491 0.00001
NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His) rs186759526 0.00001
NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg) rs1407417889 0.00001
NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe) rs949916813 0.00001
NM_001199138.2(NLRC4):c.296A>G (p.Asp99Gly) rs775273312 0.00001
NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr) rs1438338245 0.00001
NM_001199138.2(NLRC4):c.358C>G (p.Leu120Val) rs754475682 0.00001
NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr) rs750365698 0.00001
NM_001199138.2(NLRC4):c.419G>A (p.Trp140Ter) rs775526806 0.00001
NM_001199138.2(NLRC4):c.436C>T (p.His146Tyr) rs1270650686 0.00001
NM_001199138.2(NLRC4):c.443G>A (p.Arg148His) rs377088692 0.00001
NM_001199138.2(NLRC4):c.445G>A (p.Val149Met) rs572809664 0.00001
NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg) rs200238071 0.00001
NM_001199138.2(NLRC4):c.526T>A (p.Ser176Thr) rs369429630 0.00001
NM_001199138.2(NLRC4):c.541C>T (p.Arg181Ter) rs759551435 0.00001
NM_001199138.2(NLRC4):c.545T>C (p.Ile182Thr) rs575897563 0.00001
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=) rs1573494931 0.00001
NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe) rs1184102407 0.00001
NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro) rs375370365 0.00001
NM_001199138.2(NLRC4):c.583A>C (p.Thr195Pro) rs148470482 0.00001
NM_001199138.2(NLRC4):c.597C>T (p.Phe199=) rs542279142 0.00001
NM_001199138.2(NLRC4):c.59T>C (p.Ile20Thr) rs1294896426 0.00001
NM_001199138.2(NLRC4):c.701C>T (p.Ala234Val) rs773703186 0.00001
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr) rs770505969 0.00001
NM_001199138.2(NLRC4):c.718C>T (p.Arg240Trp) rs749177011 0.00001
NM_001199138.2(NLRC4):c.757T>C (p.Phe253Leu) rs1160532583 0.00001
NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser) rs1440627760 0.00001
NM_001199138.2(NLRC4):c.781A>T (p.Ile261Phe) rs755136654 0.00001
NM_001199138.2(NLRC4):c.809G>A (p.Arg270His) rs778359794 0.00001
NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser) rs780335164 0.00001
NM_001199138.2(NLRC4):c.913G>A (p.Ala305Thr) rs374259187 0.00001
NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys) rs1687059893 0.00001
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=) rs746822837 0.00001
NM_001199397.3(NEK1):c.1335T>C (p.His445=) rs776957816 0.00001
NM_001243133.2(NLRP3):c.-685G>A rs768557674 0.00001
NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu) rs779193213 0.00001
NM_001243133.2(NLRP3):c.1186C>G (p.Leu396Val) rs906785956 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1324G>A (p.Val442Ile) rs201252712 0.00001
NM_001243133.2(NLRP3):c.1355G>A (p.Arg452Gln) rs543916695 0.00001
NM_001243133.2(NLRP3):c.139G>T (p.Ala47Ser) rs1467336862 0.00001
NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys) rs1033902069 0.00001
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) rs180177474 0.00001
NM_001243133.2(NLRP3):c.1504A>G (p.Arg502Gly) rs1662756609 0.00001
NM_001243133.2(NLRP3):c.1588A>G (p.Met530Val) rs768151734 0.00001
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.1666G>A (p.Val556Met) rs199637520 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) rs1662794808 0.00001
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly) rs1342790456 0.00001
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) rs763252989 0.00001
NM_001243133.2(NLRP3):c.2048A>G (p.His683Arg) rs1662805530 0.00001
NM_001243133.2(NLRP3):c.2089C>T (p.Arg697Ter) rs1191108022 0.00001
NM_001243133.2(NLRP3):c.2095C>T (p.Leu699Phe) rs536840312 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_001243133.2(NLRP3):c.2140T>C (p.Cys714Arg) rs147296592 0.00001
NM_001243133.2(NLRP3):c.2141G>C (p.Cys714Ser) rs1248885910 0.00001
NM_001243133.2(NLRP3):c.2177G>C (p.Ser726Thr) rs200199289 0.00001
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) rs780246397 0.00001
NM_001243133.2(NLRP3):c.2297C>T (p.Pro766Leu) rs187819424 0.00001
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=) rs202232879 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2492+3G>A rs754098297 0.00001
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) rs1409419107 0.00001
NM_001243133.2(NLRP3):c.2591C>T (p.Ala864Val) rs773321213 0.00001
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) rs1157282902 0.00001
NM_001243133.2(NLRP3):c.2767G>A (p.Gly923Arg) rs767011471 0.00001
NM_001243133.2(NLRP3):c.2807A>G (p.His936Arg) rs1329217260 0.00001
NM_001243133.2(NLRP3):c.2827G>C (p.Val943Leu) rs199878892 0.00001
NM_001243133.2(NLRP3):c.2854A>C (p.Thr952Pro) rs777657094 0.00001
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=) rs1057515531 0.00001
NM_001243133.2(NLRP3):c.2902A>G (p.Ser968Gly) rs1408232607 0.00001
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) rs1247641472 0.00001
NM_001243133.2(NLRP3):c.2926A>C (p.Asn976His) rs1278737134 0.00001
NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp) rs778650629 0.00001
NM_001243133.2(NLRP3):c.2958G>A (p.Met986Ile) rs771954069 0.00001
NM_001243133.2(NLRP3):c.3010T>C (p.Ser1004Pro) rs1664742757 0.00001
NM_001243133.2(NLRP3):c.3094C>A (p.Pro1032Thr) rs1298618908 0.00001
NM_001243133.2(NLRP3):c.431G>A (p.Ser144Asn) rs768059813 0.00001
NM_001243133.2(NLRP3):c.446T>C (p.Ile149Thr) rs201768649 0.00001
NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys) rs747885829 0.00001
NM_001243133.2(NLRP3):c.544G>C (p.Glu182Gln) rs899514427 0.00001
NM_001243133.2(NLRP3):c.673G>T (p.Ala225Ser) rs1193199652 0.00001
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) rs770294045 0.00001
NM_001243133.2(NLRP3):c.728C>T (p.Ser243Leu) rs1572168591 0.00001
NM_001270508.2(TNFAIP3):c.1294G>A (p.Gly432Ser) rs1453719653 0.00001
NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg) rs766691413 0.00001
NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr) rs1776363649 0.00001
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.101G>A (p.Arg34Gln) rs767960747 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu) rs780583418 0.00001
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) rs370257828 0.00001
NM_001282225.2(ADA2):c.1100T>C (p.Ile367Thr) rs2061988155 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1139C>T (p.Thr380Ile) rs765154508 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu) rs1168801973 0.00001
NM_001282225.2(ADA2):c.1240-6G>A rs781688965 0.00001
NM_001282225.2(ADA2):c.1307T>C (p.Met436Thr) rs775742013 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.1439T>C (p.Ile480Thr) rs1388757088 0.00001
NM_001282225.2(ADA2):c.1445A>G (p.Tyr482Cys) rs1460820814 0.00001
NM_001282225.2(ADA2):c.278T>C (p.Ile93Thr) rs767399919 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.378G>T (p.Arg126Ser) rs1163129294 0.00001
NM_001282225.2(ADA2):c.380A>G (p.Asn127Ser) rs547716532 0.00001
NM_001282225.2(ADA2):c.387C>T (p.Thr129=) rs1258338183 0.00001
NM_001282225.2(ADA2):c.470A>C (p.Glu157Ala) rs762092127 0.00001
NM_001282225.2(ADA2):c.514G>C (p.Val172Leu) rs1245539035 0.00001
NM_001282225.2(ADA2):c.542+5G>A rs754845225 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.614C>T (p.Ser205Leu) rs369306297 0.00001
NM_001282225.2(ADA2):c.61A>G (p.Met21Val) rs773893396 0.00001
NM_001282225.2(ADA2):c.620T>G (p.Phe207Cys) rs1292778015 0.00001
NM_001282225.2(ADA2):c.641T>C (p.Ile214Thr) rs369510859 0.00001
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val) rs766924184 0.00001
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp) rs777662147 0.00001
NM_001282225.2(ADA2):c.778C>T (p.His260Tyr) rs778374105 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282225.2(ADA2):c.856A>G (p.Ile286Val) rs755614060 0.00001
NM_001282225.2(ADA2):c.88A>G (p.Ile30Val) rs1601462414 0.00001
NM_001282225.2(ADA2):c.998C>A (p.Ser333Tyr) rs1293578507 0.00001
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His) rs915033662 0.00001
NM_001366385.1(CARD14):c.1270T>C (p.Cys424Arg) rs567958673 0.00001
NM_001366385.1(CARD14):c.1414C>T (p.Arg472Cys) rs145876317 0.00001
NM_001366385.1(CARD14):c.1558G>A (p.Asp520Asn) rs760471922 0.00001
NM_001366385.1(CARD14):c.1602G>A (p.Pro534=) rs1414906812 0.00001
NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu) rs746260783 0.00001
NM_001366385.1(CARD14):c.2019G>A (p.Ala673=) rs1024202736 0.00001
NM_001366385.1(CARD14):c.2196C>T (p.His732=) rs758642695 0.00001
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) rs538251591 0.00001
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) rs193262780 0.00001
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) rs950950885 0.00001
NM_001366385.1(CARD14):c.2535G>A (p.Leu845=) rs1193362044 0.00001
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile) rs865872056 0.00001
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro) rs754405150 0.00001
NM_001366385.1(CARD14):c.2985G>A (p.Lys995=) rs534581445 0.00001
NM_001366385.1(CARD14):c.312C>T (p.Thr104=) rs768362011 0.00001
NM_001366385.1(CARD14):c.326A>T (p.Asp109Val) rs1014252436 0.00001
NM_001366385.1(CARD14):c.348C>T (p.Ser116=) rs775819149 0.00001
NM_001366385.1(CARD14):c.350-4A>G rs748808582 0.00001
NM_001366385.1(CARD14):c.502G>A (p.Glu168Lys) rs752479739 0.00001
NM_001366385.1(CARD14):c.570G>A (p.Glu190=) rs955758766 0.00001
NM_001366385.1(CARD14):c.758C>T (p.Thr253Ile) rs780324929 0.00001
NM_001366385.1(CARD14):c.883C>T (p.Arg295Trp) rs1431548778 0.00001
NM_001366385.1(CARD14):c.90C>T (p.Ile30=) rs549347508 0.00001
NM_001366385.1(CARD14):c.963+5C>T rs779986122 0.00001
NM_001367624.2(ZNF469):c.*649C>G rs561472955 0.00001
NM_001367624.2(ZNF469):c.*664C>T rs886052423 0.00001
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656 0.00001
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761 0.00001
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met) rs749374208 0.00001
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395 0.00001
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034 0.00001
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398 0.00001
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) rs903409672 0.00001
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402 0.00001
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389 0.00001
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107 0.00001
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) rs571207087 0.00001
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) rs370190101 0.00001
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929 0.00001
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met) rs553909579 0.00001
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410 0.00001
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) rs766581620 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) rs886052416 0.00001
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_001370466.1(NOD2):c.*1200A>G rs980810508 0.00001
NM_001370466.1(NOD2):c.*609C>T rs1965489095 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.-8-2244A>G rs1255636125 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.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=) rs749142500 0.00001
NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro) rs760962549 0.00001
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys) rs545466982 0.00001
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly) rs768389547 0.00001
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val) rs776802746 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.1609G>A (p.Val537Met) rs760678831 0.00001
NM_001370466.1(NOD2):c.1677G>T (p.Val559=) rs369719210 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.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.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.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.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.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.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.251A>G (p.Gln84Arg) rs746189550 0.00001
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser) rs201806207 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.2659G>A (p.Glu887Lys) rs758913334 0.00001
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val) rs771833402 0.00001
NM_001370466.1(NOD2):c.278A>G (p.His93Arg) rs959869589 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.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.435G>C (p.Leu145Phe) rs1292846110 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.565+1G>A rs766614906 0.00001
NM_001370466.1(NOD2):c.565+4G>A rs776802652 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.841C>T (p.Leu281Phe) rs1267341301 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_001375808.2(LPIN2):c.*1104C>T rs913148654 0.00001
NM_001375808.2(LPIN2):c.*1146T>C rs1384648245 0.00001
NM_001375808.2(LPIN2):c.*1239C>T rs1257894281 0.00001
NM_001375808.2(LPIN2):c.*1497C>T rs1321388898 0.00001
NM_001375808.2(LPIN2):c.*493G>C rs886053758 0.00001
NM_001375808.2(LPIN2):c.*506C>T rs886053757 0.00001
NM_001375808.2(LPIN2):c.*517G>A rs760055818 0.00001
NM_001375808.2(LPIN2):c.-10+1254G>A rs886053770 0.00001
NM_001375808.2(LPIN2):c.-10+1349A>G rs538473680 0.00001
NM_001375808.2(LPIN2):c.1072A>G (p.Met358Val) rs1468101530 0.00001
NM_001375808.2(LPIN2):c.1082C>T (p.Ala361Val) rs767142433 0.00001
NM_001375808.2(LPIN2):c.1109C>T (p.Ala370Val) rs771059835 0.00001
NM_001375808.2(LPIN2):c.1115C>T (p.Ala372Val) rs201830346 0.00001
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile) rs1486044509 0.00001
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile) rs886053767 0.00001
NM_001375808.2(LPIN2):c.1199C>T (p.Pro400Leu) rs1215786797 0.00001
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr) rs201473097 0.00001
NM_001375808.2(LPIN2):c.131A>G (p.Gln44Arg) rs747502342 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.1492T>C (p.Phe498Leu) rs876660986 0.00001
NM_001375808.2(LPIN2):c.1544A>G (p.Tyr515Cys) rs746027036 0.00001
NM_001375808.2(LPIN2):c.1549C>T (p.Arg517Cys) rs781071052 0.00001
NM_001375808.2(LPIN2):c.1631A>G (p.Glu544Gly) rs760055156 0.00001
NM_001375808.2(LPIN2):c.1664C>G (p.Ser555Cys) rs773514460 0.00001
NM_001375808.2(LPIN2):c.1710+3A>G rs1007627972 0.00001
NM_001375808.2(LPIN2):c.1712T>A (p.Leu571Gln) rs142392384 0.00001
NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr) rs148779863 0.00001
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu) rs755110304 0.00001
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=) rs886053766 0.00001
NM_001375808.2(LPIN2):c.1840G>A (p.Glu614Lys) rs765017173 0.00001
NM_001375808.2(LPIN2):c.191T>C (p.Val64Ala) rs754730690 0.00001
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn) rs779176377 0.00001
NM_001375808.2(LPIN2):c.1938+4A>G rs1397526157 0.00001
NM_001375808.2(LPIN2):c.1975G>A (p.Val659Met) rs948057549 0.00001
NM_001375808.2(LPIN2):c.2090C>T (p.Ser697Leu) rs754622332 0.00001
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser) rs140915714 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_001375808.2(LPIN2):c.2224G>A (p.Asp742Asn) rs779538504 0.00001
NM_001375808.2(LPIN2):c.2234G>A (p.Arg745His) rs1222370431 0.00001
NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn) rs750411797 0.00001
NM_001375808.2(LPIN2):c.2291T>G (p.Met764Arg) rs2077063217 0.00001
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr) rs750526323 0.00001
NM_001375808.2(LPIN2):c.2327+4C>T rs1344450204 0.00001
NM_001375808.2(LPIN2):c.2327+6T>A rs1334564990 0.00001
NM_001375808.2(LPIN2):c.2463A>G (p.Gln821=) rs1295333459 0.00001
NM_001375808.2(LPIN2):c.2494G>A (p.Val832Met) rs773309322 0.00001
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_001375808.2(LPIN2):c.2609C>G (p.Ser870Cys) rs769901079 0.00001
NM_001375808.2(LPIN2):c.2612C>T (p.Ala871Val) rs1210159824 0.00001
NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr) rs757315664 0.00001
NM_001375808.2(LPIN2):c.2674C>T (p.Leu892=) rs1414200193 0.00001
NM_001375808.2(LPIN2):c.2678A>G (p.Asp893Gly) rs1830594288 0.00001
NM_001375808.2(LPIN2):c.361C>T (p.Pro121Ser) rs142161739 0.00001
NM_001375808.2(LPIN2):c.418G>A (p.Val140Ile) rs751024451 0.00001
NM_001375808.2(LPIN2):c.496A>G (p.Ser166Gly) rs1187367177 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.577G>A (p.Ala193Thr) rs539324906 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.751C>T (p.Pro251Ser) rs1350091087 0.00001
NM_001375808.2(LPIN2):c.755C>T (p.Ala252Val) rs774296727 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile) rs765149855 0.00001
NM_001375808.2(LPIN2):c.777G>T (p.Glu259Asp) rs772512144 0.00001
NM_001375808.2(LPIN2):c.794C>T (p.Thr265Met) rs1334562388 0.00001
NM_001375808.2(LPIN2):c.802G>A (p.Gly268Arg) rs755432834 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 0.00001
NM_001375808.2(LPIN2):c.896G>A (p.Arg299Gln) rs766189065 0.00001
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg) rs139798681 0.00001
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val) rs777659252 0.00001
NM_001375808.2(LPIN2):c.997G>C (p.Gly333Arg) rs531715581 0.00001
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys) rs747825411 0.00001
NM_001457.4(FLNB):c.282C>T (p.Leu94=) rs745493076 0.00001
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val) rs570950728 0.00001
NM_001457.4(FLNB):c.4736C>T (p.Thr1579Ile) rs2097315257 0.00001
NM_001457.4(FLNB):c.5784C>T (p.Leu1928=) rs866717445 0.00001
NM_001558.4(IL10RA):c.*104C>G rs886047710 0.00001
NM_001558.4(IL10RA):c.*405G>A rs768366983 0.00001
NM_001558.4(IL10RA):c.-29C>T rs755865901 0.00001
NM_001558.4(IL10RA):c.1002G>C (p.Gln334His) rs758119534 0.00001
NM_001558.4(IL10RA):c.1019C>T (p.Pro340Leu) rs969779145 0.00001
NM_001558.4(IL10RA):c.1103C>T (p.Thr368Ile) rs568487189 0.00001
NM_001558.4(IL10RA):c.1118G>T (p.Cys373Phe) rs1342686509 0.00001
NM_001558.4(IL10RA):c.1139G>A (p.Ser380Asn) rs2058074890 0.00001
NM_001558.4(IL10RA):c.1165C>A (p.Gln389Lys) rs746168445 0.00001
NM_001558.4(IL10RA):c.1166A>T (p.Gln389Leu) rs772645232 0.00001
NM_001558.4(IL10RA):c.1174G>A (p.Gly392Arg) rs1031597162 0.00001
NM_001558.4(IL10RA):c.1250A>G (p.Gln417Arg) rs778369288 0.00001
NM_001558.4(IL10RA):c.1323G>A (p.Val441=) rs746663189 0.00001
NM_001558.4(IL10RA):c.1399T>C (p.Ser467Pro) rs2058077626 0.00001
NM_001558.4(IL10RA):c.1408A>G (p.Thr470Ala) rs528243258 0.00001
NM_001558.4(IL10RA):c.1631A>T (p.Asp544Val) rs550530605 0.00001
NM_001558.4(IL10RA):c.184C>A (p.Leu62Met) rs1446614429 0.00001
NM_001558.4(IL10RA):c.188+3G>A rs780334422 0.00001
NM_001558.4(IL10RA):c.274C>T (p.His92Tyr) rs1333934613 0.00001
NM_001558.4(IL10RA):c.290G>A (p.Arg97Gln) rs752043400 0.00001
NM_001558.4(IL10RA):c.319C>T (p.Arg107Trp) rs747009132 0.00001
NM_001558.4(IL10RA):c.447G>A (p.Lys149=) rs750580462 0.00001
NM_001558.4(IL10RA):c.473A>G (p.Glu158Gly) rs748829818 0.00001
NM_001558.4(IL10RA):c.515G>A (p.Arg172His) rs769225123 0.00001
NM_001558.4(IL10RA):c.517A>G (p.Lys173Glu) rs1213366682 0.00001
NM_001558.4(IL10RA):c.524C>T (p.Pro175Leu) rs149837909 0.00001
NM_001558.4(IL10RA):c.538T>G (p.Phe180Val) rs759799794 0.00001
NM_001558.4(IL10RA):c.628G>A (p.Ala210Thr) rs779757879 0.00001
NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu) rs755758777 0.00001
NM_001558.4(IL10RA):c.810+11C>T rs763760161 0.00001
NM_001558.4(IL10RA):c.818A>G (p.Lys273Arg) rs750798173 0.00001
NM_001558.4(IL10RA):c.896A>T (p.Glu299Val) rs1241295240 0.00001
NM_001558.4(IL10RA):c.975G>C (p.Lys325Asn) rs375357983 0.00001
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) rs556637113 0.00001
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) rs529545521 0.00001
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) rs202233676 0.00001
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn) rs1252610234 0.00001
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg) rs750563102 0.00001
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) rs767853623 0.00001
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys) rs760044774 0.00001
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) rs1399049173 0.00001
NM_001611.5(ACP5):c.47C>A (p.Pro16His) rs201047202 0.00001
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) rs745457954 0.00001
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) rs770788576 0.00001
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) rs1372135711 0.00001
NM_001611.5(ACP5):c.758T>C (p.Val253Ala) rs775386822 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NM_001611.5(ACP5):c.832T>C (p.Tyr278His) rs1248410622 0.00001
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile) rs1369048725 0.00001
NM_001611.5(ACP5):c.91G>A (p.Val31Met) rs765947561 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_001844.5(COL2A1):c.-15G>T rs886049450 0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.1941+18C>T rs753819738 0.00001
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) rs762603514 0.00001
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His) rs535980544 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val) rs762619684 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) rs371635111 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) rs779252535 0.00001
NM_001844.5(COL2A1):c.3598-5T>C rs1441411760 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg) rs200194450 0.00001
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val) rs767229176 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001852.4(COL9A2):c.*38G>A rs547105794 0.00001
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr) rs1444649342 0.00001
NM_001852.4(COL9A2):c.1609C>T (p.Leu537=) rs1057515453 0.00001
NM_001852.4(COL9A2):c.417+12C>T rs371485028 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser) rs1443766012 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.900G>C (p.Thr300=) rs752584833 0.00001
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468 0.00001
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=) rs762727530 0.00001
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.2990G>A (p.Gly997Asp) rs772357889 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) rs774508567 0.00001
NM_001972.4(ELANE):c.555C>T (p.Asn185=) rs765055351 0.00001
NM_001972.4(ELANE):c.756C>T (p.Asn252=) rs2035678048 0.00001
NM_001972.4(ELANE):c.786G>A (p.Pro262=) rs762273987 0.00001
NM_001999.4(FBN2):c.*1239A>G rs765057642 0.00001
NM_001999.4(FBN2):c.*1315C>G rs886059883 0.00001
NM_001999.4(FBN2):c.*244T>C rs886059889 0.00001
NM_001999.4(FBN2):c.*745C>G rs754492977 0.00001
NM_001999.4(FBN2):c.-219C>G rs886059905 0.00001
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys) rs759013590 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys) rs1382726763 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser) rs200850552 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1724-7T>G rs1490528227 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys) rs138963610 0.00001
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys) rs747447916 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2149C>T (p.Arg717Cys) rs766945762 0.00001
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763 0.00001
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp) rs1751527556 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2863+3G>A rs762144935 0.00001
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg) rs547410742 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe) rs914081385 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met) rs558632824 0.00001
NM_001999.4(FBN2):c.3724+11A>G rs886059900 0.00001
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg) rs1018550681 0.00001
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu) rs957639025 0.00001
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe) rs199668238 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys) rs1554121027 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667 0.00001
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His) rs751661259 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn) rs1018411631 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_001999.4(FBN2):c.5074+5G>A rs374651068 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.513T>G (p.Ile171Met) rs1756603412 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser) rs1033004512 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106 0.00001
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys) rs761101580 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075 0.00001
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met) rs770011418 0.00001
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr) rs1208950525 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7345+3A>G rs776419198 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7471+5C>T rs369559870 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His) rs1451291857 0.00001
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg) rs375790581 0.00001
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.798C>G (p.Ile266Met) rs1754660877 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=) rs542824837 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501 0.00001
NM_001999.4(FBN2):c.953-3T>A rs1020574940 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.908T>A (p.Ile303Asn) rs1165682529 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NM_002451.4(MTAP):c.*1093G>T rs1825785660 0.00001
NM_002451.4(MTAP):c.*1399C>A rs1825792275 0.00001
NM_002451.4(MTAP):c.*2183T>C rs1825811023 0.00001
NM_002451.4(MTAP):c.*2286A>G rs1825813138 0.00001
NM_002451.4(MTAP):c.*2606G>C rs886063792 0.00001
NM_002451.4(MTAP):c.*3766C>T rs149649469 0.00001
NM_002451.4(MTAP):c.*730A>G rs1031531828 0.00001
NM_002451.4(MTAP):c.*912A>G rs1825783181 0.00001
NM_002451.4(MTAP):c.-108_-103del rs886063780 0.00001
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) rs1365841164 0.00001
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys) rs202179598 0.00001
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) rs1483057981 0.00001
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941 0.00001
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs) rs771859820 0.00001
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met) rs139554380 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) rs750896639 0.00001
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr) rs753367645 0.00001
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp) rs267600485 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile) rs370817438 0.00001
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser) rs1175765188 0.00001
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180 0.00001
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser) rs761286709 0.00001
NM_002661.5(PLCG2):c.1072+4A>G rs1461809343 0.00001
NM_002661.5(PLCG2):c.1194C>G (p.Ser398Arg) rs1051315426 0.00001
NM_002661.5(PLCG2):c.1301C>T (p.Thr434Met) rs757785924 0.00001
NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr) rs1225918799 0.00001
NM_002661.5(PLCG2):c.1411A>C (p.Lys471Gln) rs1250133694 0.00001
NM_002661.5(PLCG2):c.1427A>G (p.Lys476Arg) rs781145125 0.00001
NM_002661.5(PLCG2):c.1467+3G>A rs759974672 0.00001
NM_002661.5(PLCG2):c.1478G>A (p.Arg493Gln) rs369542682 0.00001
NM_002661.5(PLCG2):c.1501G>T (p.Ala501Ser) rs772234560 0.00001
NM_002661.5(PLCG2):c.1558G>T (p.Asp520Tyr) rs1348054495 0.00001
NM_002661.5(PLCG2):c.1567C>G (p.Pro523Ala) rs574435526 0.00001
NM_002661.5(PLCG2):c.1622C>T (p.Thr541Met) rs767040629 0.00001
NM_002661.5(PLCG2):c.1634A>G (p.Lys545Arg) rs1555519355 0.00001
NM_002661.5(PLCG2):c.1735C>T (p.Arg579Trp) rs1324356186 0.00001
NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln) rs200325678 0.00001
NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg) rs758138167 0.00001
NM_002661.5(PLCG2):c.1799A>G (p.Tyr600Cys) rs1909576451 0.00001
NM_002661.5(PLCG2):c.1840A>G (p.Ile614Val) rs747542285 0.00001
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys) rs763166039 0.00001
NM_002661.5(PLCG2):c.1895C>T (p.Thr632Met) rs565010144 0.00001
NM_002661.5(PLCG2):c.1934C>T (p.Pro645Leu) rs781621510 0.00001
NM_002661.5(PLCG2):c.1986G>C (p.Arg662Ser) rs1202954972 0.00001
NM_002661.5(PLCG2):c.202A>T (p.Met68Leu) rs184409507 0.00001
NM_002661.5(PLCG2):c.2039A>G (p.Tyr680Cys) rs758450563 0.00001
NM_002661.5(PLCG2):c.2055G>A (p.Arg685=) rs762901904 0.00001
NM_002661.5(PLCG2):c.207A>C (p.Glu69Asp) rs534845546 0.00001
NM_002661.5(PLCG2):c.2080C>T (p.Arg694Cys) rs764736362 0.00001
NM_002661.5(PLCG2):c.2088C>G (p.Asn696Lys) rs775025176 0.00001
NM_002661.5(PLCG2):c.2102A>G (p.His701Arg) rs777219718 0.00001
NM_002661.5(PLCG2):c.2140G>A (p.Val714Met) rs1477576619 0.00001
NM_002661.5(PLCG2):c.2152A>G (p.Ser718Gly) rs767628464 0.00001
NM_002661.5(PLCG2):c.2186T>C (p.Met729Thr) rs1420066208 0.00001
NM_002661.5(PLCG2):c.2209C>G (p.Pro737Ala) rs748649938 0.00001
NM_002661.5(PLCG2):c.2224C>T (p.Arg742Cys) rs776768909 0.00001
NM_002661.5(PLCG2):c.2236G>C (p.Glu746Gln) rs1387006185 0.00001
NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile) rs758623675 0.00001
NM_002661.5(PLCG2):c.2296A>C (p.Asn766His) rs955126333 0.00001
NM_002661.5(PLCG2):c.2351G>A (p.Arg784Gln) rs1476399695 0.00001
NM_002661.5(PLCG2):c.2374C>T (p.Arg792Cys) rs983424200 0.00001
NM_002661.5(PLCG2):c.2399C>G (p.Ser800Cys) rs769337881 0.00001
NM_002661.5(PLCG2):c.2418-3C>T rs1278551242 0.00001
NM_002661.5(PLCG2):c.2581+5G>A rs769466948 0.00001
NM_002661.5(PLCG2):c.2659G>A (p.Glu887Lys) rs1179741687 0.00001
NM_002661.5(PLCG2):c.2671G>A (p.Asp891Asn) rs770349960 0.00001
NM_002661.5(PLCG2):c.2739+19G>A rs776050949 0.00001
NM_002661.5(PLCG2):c.2739+4G>T rs754078401 0.00001
NM_002661.5(PLCG2):c.2866C>T (p.Arg956Cys) rs759995209 0.00001
NM_002661.5(PLCG2):c.2867G>A (p.Arg956His) rs376030995 0.00001
NM_002661.5(PLCG2):c.2912C>T (p.Pro971Leu) rs770381413 0.00001
NM_002661.5(PLCG2):c.292A>G (p.Ile98Val) rs1273224701 0.00001
NM_002661.5(PLCG2):c.2931C>G (p.Tyr977Ter) rs1016837424 0.00001
NM_002661.5(PLCG2):c.3002G>A (p.Arg1001His) rs752209691 0.00001
NM_002661.5(PLCG2):c.3034C>T (p.Leu1012Phe) rs1597143704 0.00001
NM_002661.5(PLCG2):c.304A>G (p.Thr102Ala) rs991965495 0.00001
NM_002661.5(PLCG2):c.3092A>G (p.Asn1031Ser) rs747605077 0.00001
NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys) rs376667295 0.00001
NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His) rs760293225 0.00001
NM_002661.5(PLCG2):c.3109G>A (p.Val1037Ile) rs373561919 0.00001
NM_002661.5(PLCG2):c.3149C>T (p.Pro1050Leu) rs372812991 0.00001
NM_002661.5(PLCG2):c.3151A>T (p.Met1051Leu) rs771587263 0.00001
NM_002661.5(PLCG2):c.3185C>T (p.Thr1062Met) rs767605816 0.00001
NM_002661.5(PLCG2):c.3211C>T (p.Arg1071Cys) rs758678624 0.00001
NM_002661.5(PLCG2):c.3239T>A (p.Ile1080Asn) rs747179742 0.00001
NM_002661.5(PLCG2):c.3263A>C (p.Glu1088Ala) rs1426507749 0.00001
NM_002661.5(PLCG2):c.3291C>G (p.Asn1097Lys) rs1910825289 0.00001
NM_002661.5(PLCG2):c.3308T>C (p.Val1103Ala) rs1008211026 0.00001
NM_002661.5(PLCG2):c.335C>T (p.Ala112Val) rs1329320173 0.00001
NM_002661.5(PLCG2):c.337+2T>C rs866001196 0.00001
NM_002661.5(PLCG2):c.3388G>T (p.Ala1130Ser) rs1003946385 0.00001
NM_002661.5(PLCG2):c.3393T>A (p.Phe1131Leu) rs754374903 0.00001
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile) rs372557475 0.00001
NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn) rs1447212251 0.00001
NM_002661.5(PLCG2):c.3511T>C (p.Tyr1171His) rs1567545409 0.00001
NM_002661.5(PLCG2):c.3523A>G (p.Ile1175Val) rs368684142 0.00001
NM_002661.5(PLCG2):c.3563C>T (p.Pro1188Leu) rs1354525679 0.00001
NM_002661.5(PLCG2):c.3569T>C (p.Leu1190Pro) rs1287516481 0.00001
NM_002661.5(PLCG2):c.3575G>C (p.Ser1192Thr) rs761797236 0.00001
NM_002661.5(PLCG2):c.3615G>C (p.Arg1205Ser) rs1395093005 0.00001
NM_002661.5(PLCG2):c.3617G>A (p.Arg1206Gln) rs373686679 0.00001
NM_002661.5(PLCG2):c.361A>C (p.Asn121His) rs775430573 0.00001
NM_002661.5(PLCG2):c.3646C>A (p.Leu1216Met) rs770521320 0.00001
NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter) rs1406944158 0.00001
NM_002661.5(PLCG2):c.3730C>G (p.Leu1244Val) rs200800716 0.00001
NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys) rs1911592073 0.00001
NM_002661.5(PLCG2):c.3756-3C>T rs377088921 0.00001
NM_002661.5(PLCG2):c.475A>C (p.Asn159His) rs1275687800 0.00001
NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe) rs772451566 0.00001
NM_002661.5(PLCG2):c.617A>T (p.Tyr206Phe) rs766231080 0.00001
NM_002661.5(PLCG2):c.628A>C (p.Met210Leu) rs1367179036 0.00001
NM_002661.5(PLCG2):c.629T>C (p.Met210Thr) rs201487295 0.00001
NM_002661.5(PLCG2):c.679G>A (p.Val227Met) rs769793664 0.00001
NM_002661.5(PLCG2):c.689T>C (p.Leu230Pro) rs762467148 0.00001
NM_002661.5(PLCG2):c.692+6G>A rs1908049675 0.00001
NM_002661.5(PLCG2):c.692+7C>T rs773842088 0.00001
NM_002661.5(PLCG2):c.743G>C (p.Arg248Thr) rs1328979532 0.00001
NM_002661.5(PLCG2):c.765+5G>C rs1400033523 0.00001
NM_002661.5(PLCG2):c.778C>G (p.Gln260Glu) rs772517191 0.00001
NM_002661.5(PLCG2):c.784C>G (p.Leu262Val) rs372563994 0.00001
NM_002661.5(PLCG2):c.803G>A (p.Arg268Gln) rs1353126296 0.00001
NM_002661.5(PLCG2):c.827C>A (p.Thr276Asn) rs1567517826 0.00001
NM_002661.5(PLCG2):c.839C>G (p.Thr280Ser) rs757316414 0.00001
NM_002661.5(PLCG2):c.858T>G (p.Phe286Leu) rs962152757 0.00001
NM_002661.5(PLCG2):c.867+5G>A rs1377872536 0.00001
NM_002661.5(PLCG2):c.875C>T (p.Thr292Met) rs772003833 0.00001
NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr) rs1382212475 0.00001
NM_002661.5(PLCG2):c.950C>T (p.Pro317Leu) rs773116531 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala) rs1347876005 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528 0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu) rs776248526 0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744 0.00001
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622 0.00001
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670 0.00001
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601 0.00001
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys) rs747693633 0.00001
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr) rs371772366 0.00001
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494 0.00001
NM_003036.4(SKI):c.1474+4C>T rs780930093 0.00001
NM_003036.4(SKI):c.149A>T (p.Glu50Val) rs1158589836 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628 0.00001
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro) rs1161295504 0.00001
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.173C>G (p.Ala58Gly) rs1638564960 0.00001
NM_003036.4(SKI):c.1767+6C>T rs780191562 0.00001
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu) rs761706108 0.00001
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00001
NM_003036.4(SKI):c.2026C>T (p.His676Tyr) rs1376096484 0.00001
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr) rs1254335229 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp) rs1216955747 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys) rs1341756519 0.00001
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp) rs1381348497 0.00001
NM_003036.4(SKI):c.235A>G (p.Ile79Val) rs1638568678 0.00001
NM_003036.4(SKI):c.340G>A (p.Val114Met) rs1165144413 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.45G>A (p.Pro15=) rs762947696 0.00001
NM_003036.4(SKI):c.461C>T (p.Thr154Met) rs1275592565 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.795G>C (p.Lys265Asn) rs1457407953 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.923A>G (p.Lys308Arg) rs1276404635 0.00001
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080 0.00001
NM_003036.4(SKI):c.942C>T (p.Gly314=) rs1245622958 0.00001
NM_003036.4(SKI):c.974C>T (p.Ser325Phe) rs779414606 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser) rs148983888 0.00001
NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr) rs771131237 0.00001
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp) rs781232281 0.00001
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser) rs1188689290 0.00001
NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val) rs776562188 0.00001
NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn) rs777722013 0.00001
NM_003183.6(ADAM17):c.1344+6T>C rs752978791 0.00001
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe) rs781773909 0.00001
NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu) rs760407268 0.00001
NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly) rs201743292 0.00001
NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn) rs372967979 0.00001
NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val) rs749866093 0.00001
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu) rs752745494 0.00001
NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu) rs1394373815 0.00001
NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu) rs759653644 0.00001
NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) rs780557617 0.00001
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) rs1361814499 0.00001
NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val) rs988994141 0.00001
NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln) rs777431052 0.00001
NM_003183.6(ADAM17):c.194A>G (p.His65Arg) rs774425802 0.00001
NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys) rs1662107386 0.00001
NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) rs1257938701 0.00001
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser) rs889062988 0.00001
NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val) rs181463078 0.00001
NM_003183.6(ADAM17):c.2213G>A (p.Arg738His) rs538865826 0.00001
NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) rs751381392 0.00001
NM_003183.6(ADAM17):c.231-3C>T rs1394369977 0.00001
NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) rs753859098 0.00001
NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr) rs1228003788 0.00001
NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) rs764050476 0.00001
NM_003183.6(ADAM17):c.2438G>A (p.Arg813His) rs760757602 0.00001
NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys) rs752730764 0.00001
NM_003183.6(ADAM17):c.2452G>C (p.Asp818His) rs142315365 0.00001
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn) rs752645542 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) rs770400357 0.00001
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr) rs777284700 0.00001
NM_003183.6(ADAM17):c.530G>A (p.Arg177His) rs763442293 0.00001
NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) rs373192089 0.00001
NM_003183.6(ADAM17):c.773T>C (p.Val258Ala) rs994263495 0.00001
NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) rs1664294967 0.00001
NM_003183.6(ADAM17):c.94C>G (p.Leu32Val) rs779147649 0.00001
NM_003183.6(ADAM17):c.975A>G (p.Ile325Met) rs1222914560 0.00001
NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly) rs779424893 0.00001
NM_003238.6(TGFB2):c.*1615T>C rs886045987 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*193A>C rs1413240885 0.00001
NM_003238.6(TGFB2):c.*489A>G rs558071814 0.00001
NM_003238.6(TGFB2):c.*782del rs886045983 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.-1153G>T rs886045959 0.00001
NM_003238.6(TGFB2):c.-540A>T rs868385461 0.00001
NM_003238.6(TGFB2):c.-616G>A rs1018085683 0.00001
NM_003238.6(TGFB2):c.-683C>A rs886045962 0.00001
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu) rs773943154 0.00001
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met) rs376159002 0.00001
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980 0.00001
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg) rs1431335293 0.00001
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr) rs1027195424 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly) rs967581444 0.00001
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser) rs1300823855 0.00001
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys) rs863223789 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn) rs775251473 0.00001
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp) rs773820426 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.548G>A (p.Arg183His) rs773177511 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe) rs1185241582 0.00001
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser) rs769911912 0.00001
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp) rs781514831 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp) rs1212341043 0.00001
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu) rs1467391590 0.00001
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg) rs1169804851 0.00001
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln) rs762561484 0.00001
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val) rs1478901182 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn) rs1400200743 0.00001
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) rs749485028 0.00001
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) rs1474531974 0.00001
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) rs750299821 0.00001
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys) rs1304975316 0.00001
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala) rs759168311 0.00001
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) rs371772819 0.00001
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) rs367967889 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) rs769627183 0.00001
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys) rs1555361455 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys) rs752691299 0.00001
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln) rs776388495 0.00001
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp) rs546744152 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln) rs1319852054 0.00001
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys) rs767125999 0.00001
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met) rs770761155 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) rs1085307755 0.00001
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr) rs2035184083 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg) rs771638085 0.00001
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) rs2035183279 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) rs759234781 0.00001
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) rs369281541 0.00001
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) rs1194816649 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003242.6(TGFBR2):c.*1201C>T rs886058318 0.00001
NM_003242.6(TGFBR2):c.*1465T>C rs1171877784 0.00001
NM_003242.6(TGFBR2):c.*1887G>A rs886058324 0.00001
NM_003242.6(TGFBR2):c.*1998G>A rs886058325 0.00001
NM_003242.6(TGFBR2):c.*820G>A rs1259248325 0.00001
NM_003242.6(TGFBR2):c.-117G>A rs886058302 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=) rs139456857 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.6(TGFBR2):c.95-3679C>A rs1312697004 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter) rs1248215588 0.00001
NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val) rs1384216426 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) rs267606538 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.468+3G>A rs868823652 0.00001
NM_003977.4(AIP):c.469-17T>C rs886037872 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys) rs372468528 0.00001
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr) rs1309288797 0.00001
NM_003978.5(PSTPIP1):c.1048G>A (p.Val350Met) rs368482922 0.00001
NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys) rs781251437 0.00001
NM_003978.5(PSTPIP1):c.1097C>T (p.Ala366Val) rs773832598 0.00001
NM_003978.5(PSTPIP1):c.1106A>G (p.Asp369Gly) rs1291828257 0.00001
NM_003978.5(PSTPIP1):c.1126G>A (p.Asp376Asn) rs984709043 0.00001
NM_003978.5(PSTPIP1):c.1180G>A (p.Asp394Asn) rs377006780 0.00001
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.155G>A (p.Arg52Gln) rs751618284 0.00001
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp) rs375063664 0.00001
NM_003978.5(PSTPIP1):c.212+5G>A rs1280331114 0.00001
NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu) rs199800583 0.00001
NM_003978.5(PSTPIP1):c.253G>A (p.Glu85Lys) rs1433818911 0.00001
NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val) rs775041579 0.00001
NM_003978.5(PSTPIP1):c.316G>A (p.Glu106Lys) rs1141039 0.00001
NM_003978.5(PSTPIP1):c.318G>C (p.Glu106Asp) rs1415307232 0.00001
NM_003978.5(PSTPIP1):c.325C>T (p.Arg109Cys) rs569030059 0.00001
NM_003978.5(PSTPIP1):c.36+10610A>G rs2075813588 0.00001
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107 0.00001
NM_003978.5(PSTPIP1):c.395C>T (p.Ser132Leu) rs777409558 0.00001
NM_003978.5(PSTPIP1):c.400T>C (p.Tyr134His) rs374212404 0.00001
NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His) rs375932577 0.00001
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) rs886051493 0.00001
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser) rs1397291808 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg) rs770462479 0.00001
NM_003978.5(PSTPIP1):c.516+4C>A rs752232834 0.00001
NM_003978.5(PSTPIP1):c.516+5G>A rs997648680 0.00001
NM_003978.5(PSTPIP1):c.565C>T (p.Arg189Trp) rs542018257 0.00001
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys) rs760587319 0.00001
NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp) rs781549267 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.683G>A (p.Arg228His) rs1386762740 0.00001
NM_003978.5(PSTPIP1):c.702C>G (p.His234Gln) rs1420190742 0.00001
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312 0.00001
NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly) rs1333618864 0.00001
NM_003978.5(PSTPIP1):c.816G>C (p.Lys272Asn) rs867312193 0.00001
NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp) rs990986006 0.00001
NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln) rs750445188 0.00001
NM_003978.5(PSTPIP1):c.86T>C (p.Leu29Pro) rs1375790630 0.00001
NM_003978.5(PSTPIP1):c.881C>T (p.Pro294Leu) rs756411737 0.00001
NM_003978.5(PSTPIP1):c.89_99del (p.Leu30fs) rs1263340623 0.00001
NM_003978.5(PSTPIP1):c.929+5G>A rs768632688 0.00001
NM_003978.5(PSTPIP1):c.949G>A (p.Gly317Arg) rs557172402 0.00001
NM_003978.5(PSTPIP1):c.994G>A (p.Glu332Lys) rs751889307 0.00001
NM_003978.5(PSTPIP1):c.997A>C (p.Thr333Pro) rs746898326 0.00001
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn) rs766465446 0.00001
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_004327.4(BCR):c.1149C>T (p.Pro383=) rs775817981 0.00001
NM_004327.4(BCR):c.685C>T (p.Pro229Ser) rs1441856766 0.00001
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln) rs369632687 0.00001
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met) rs760372994 0.00001
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp) rs1410617603 0.00001
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys) rs1439202716 0.00001
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly) rs577659401 0.00001
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser) rs1415169403 0.00001
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val) rs1967197829 0.00001
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu) rs1346240180 0.00001
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser) rs1182161658 0.00001
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu) rs1341205888 0.00001
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met) rs1060502119 0.00001
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn) rs1452063514 0.00001
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu) rs949548349 0.00001
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu) rs917977456 0.00001
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser) rs1289919155 0.00001
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp) rs1358539228 0.00001
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr) rs1158593564 0.00001
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala) rs1027991203 0.00001
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser) rs996591962 0.00001
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala) rs957253046 0.00001
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu) rs1600023321 0.00001
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr) rs896656951 0.00001
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala) rs1055210725 0.00001
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser) rs1362518517 0.00001
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala) rs1379627026 0.00001
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe) rs908433906 0.00001
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile) rs1366281839 0.00001
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln) rs1198903435 0.00001
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys) rs1967182561 0.00001
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys) rs755311871 0.00001
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg) rs1245499278 0.00001
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg) rs1223584541 0.00001
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val) rs1325138029 0.00001
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His) rs1060502124 0.00001
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser) rs998501847 0.00001
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu) rs1555742114 0.00001
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu) rs1247330890 0.00001
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu) rs1568419736 0.00001
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg) rs1329725504 0.00001
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767 0.00001
NM_004364.5(CEBPA):c.652A>G (p.Met218Val) rs1378898437 0.00001
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu) rs1308550194 0.00001
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr) rs933936962 0.00001
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser) rs1315043080 0.00001
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala) rs1189516787 0.00001
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser) rs1049967 0.00001
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly) rs1340981881 0.00001
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val) rs746895795 0.00001
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser) rs1263173603 0.00001
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe) rs1357810737 0.00001
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys) rs1228704709 0.00001
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro) rs1294426980 0.00001
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val) rs780335632 0.00001
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln) rs1392203731 0.00001
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg) rs1391793930 0.00001
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys) rs747606716 0.00001
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly) rs1422138876 0.00001
NM_004371.4(COPA):c.1054G>A (p.Val352Ile) rs765356400 0.00001
NM_004371.4(COPA):c.1072C>T (p.Arg358Trp) rs1465029263 0.00001
NM_004371.4(COPA):c.1220C>T (p.Ala407Val) rs559332322 0.00001
NM_004371.4(COPA):c.1301C>T (p.Ser434Leu) rs769707936 0.00001
NM_004371.4(COPA):c.1357T>C (p.Cys453Arg) rs1471394621 0.00001
NM_004371.4(COPA):c.1396C>T (p.Leu466Phe) rs1658787005 0.00001
NM_004371.4(COPA):c.1527C>T (p.His509=) rs772265510 0.00001
NM_004371.4(COPA):c.154+6A>G rs763734496 0.00001
NM_004371.4(COPA):c.1708G>A (p.Val570Ile) rs1162410358 0.00001
NM_004371.4(COPA):c.1723G>A (p.Gly575Ser) rs1658515221 0.00001
NM_004371.4(COPA):c.1873A>G (p.Ile625Val) rs539596065 0.00001
NM_004371.4(COPA):c.1942C>T (p.Arg648Cys) rs1049665620 0.00001
NM_004371.4(COPA):c.2086C>T (p.Arg696Cys) rs1658458280 0.00001
NM_004371.4(COPA):c.2150G>A (p.Arg717His) rs1051839166 0.00001
NM_004371.4(COPA):c.2273C>G (p.Ala758Gly) rs941514851 0.00001
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) rs552778606 0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val) rs761919408 0.00001
NM_004371.4(COPA):c.3026G>A (p.Arg1009Gln) rs761236399 0.00001
NM_004371.4(COPA):c.3258+4A>G rs1235530043 0.00001
NM_004371.4(COPA):c.3380G>A (p.Arg1127His) rs776528615 0.00001
NM_004371.4(COPA):c.3484A>G (p.Met1162Val) rs1243134474 0.00001
NM_004371.4(COPA):c.3521G>A (p.Arg1174Gln) rs772329332 0.00001
NM_004371.4(COPA):c.3650G>A (p.Arg1217Lys) rs1322429024 0.00001
NM_004371.4(COPA):c.473C>G (p.Thr158Ser) rs371954050 0.00001
NM_004371.4(COPA):c.529G>T (p.Val177Leu) rs752416801 0.00001
NM_004371.4(COPA):c.779G>A (p.Arg260His) rs1381216320 0.00001
NM_004371.4(COPA):c.863G>A (p.Arg288His) rs781647709 0.00001
NM_004371.4(COPA):c.962G>A (p.Arg321Gln) rs145706918 0.00001
NM_004612.4(TGFBR1):c.*1343T>C rs11568810 0.00001
NM_004612.4(TGFBR1):c.*1910A>G rs1251469176 0.00001
NM_004612.4(TGFBR1):c.*2409A>G rs1268827179 0.00001
NM_004612.4(TGFBR1):c.*2791G>A rs201846922 0.00001
NM_004612.4(TGFBR1):c.*2833G>A rs200520116 0.00001
NM_004612.4(TGFBR1):c.*2880C>A rs886063247 0.00001
NM_004612.4(TGFBR1):c.*2943A>G rs937916276 0.00001
NM_004612.4(TGFBR1):c.*3056C>A rs886063249 0.00001
NM_004612.4(TGFBR1):c.*3790C>T rs201101442 0.00001
NM_004612.4(TGFBR1):c.*4219G>A rs1022130561 0.00001
NM_004612.4(TGFBR1):c.*4295C>T rs199650257 0.00001
NM_004612.4(TGFBR1):c.*441C>T rs202012098 0.00001
NM_004612.4(TGFBR1):c.-31G>A rs1404137226 0.00001
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala) rs1162682079 0.00001
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799 0.00001
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290 0.00001
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) rs745324433 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn) rs200560562 0.00001
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) rs1826374374 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_004895.4(NLRP3):c.*431G>A rs1296786716 0.00001
NM_004895.4(NLRP3):c.*604A>C rs1057515532 0.00001
NM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu) rs1456163008 0.00001
NM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His) rs1397140992 0.00001
NM_004944.4(DNASE1L3):c.359A>G (p.His120Arg) rs1282131721 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) rs759585425 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) rs762677807 0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) rs200508558 0.00001
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu) rs369547447 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.2055A>G (p.Lys685=) rs1454595224 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) rs1465141746 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) rs756736832 0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) rs376679438 0.00001
NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser) rs773651001 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) rs938821234 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser) rs1018549208 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=) rs761632172 0.00001
NM_005529.7(HSPG2):c.1355+5G>A rs781394836 0.00001
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=) rs758125762 0.00001
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His) rs561392976 0.00001
NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys) rs762159760 0.00001
NM_005529.7(HSPG2):c.6802G>A (p.Val2268Met) rs1459395398 0.00001
NM_005529.7(HSPG2):c.8317-7T>C rs773039564 0.00001
NM_005546.4(ITK):c.810A>G (p.Ala270=) rs750585884 0.00001
NM_005902.4(SMAD3):c.*1159A>G rs1002378365 0.00001
NM_005902.4(SMAD3):c.*1455G>C rs1479158835 0.00001
NM_005902.4(SMAD3):c.*1819C>T rs886051406 0.00001
NM_005902.4(SMAD3):c.*6del rs772778568 0.00001
NM_005902.4(SMAD3):c.*804C>T rs1217099486 0.00001
NM_005902.4(SMAD3):c.*925G>A rs886051389 0.00001
NM_005902.4(SMAD3):c.1010-12T>C rs773629535 0.00001
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) rs745387614 0.00001
NM_005902.4(SMAD3):c.207-3C>A rs757772685 0.00001
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln) rs758823376 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys) rs1165259401 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys) rs1253901433 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr) rs760091844 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn) rs1201995588 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly) rs762516714 0.00001
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp) rs11554405 0.00001
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro) rs1482633002 0.00001
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile) rs1187283211 0.00001
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr) rs777734868 0.00001
NM_006397.3(RNASEH2A):c.169C>G (p.Leu57Val) rs775194617 0.00001
NM_006397.3(RNASEH2A):c.199+5G>T rs1969004135 0.00001
NM_006397.3(RNASEH2A):c.229G>A (p.Glu77Lys) rs771469429 0.00001
NM_006397.3(RNASEH2A):c.257C>T (p.Thr86Met) rs193084598 0.00001
NM_006397.3(RNASEH2A):c.284T>C (p.Val95Ala) rs754727728 0.00001
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.323+3G>A rs780523288 0.00001
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile) rs373265362 0.00001
NM_006397.3(RNASEH2A):c.332A>G (p.Tyr111Cys) rs1254142641 0.00001
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser) rs779298565 0.00001
NM_006397.3(RNASEH2A):c.361G>A (p.Ala121Thr) rs753384166 0.00001
NM_006397.3(RNASEH2A):c.378G>C (p.Gln126His) rs1182449523 0.00001
NM_006397.3(RNASEH2A):c.411+3G>C rs749477709 0.00001
NM_006397.3(RNASEH2A):c.439G>C (p.Glu147Gln) rs769486587 0.00001
NM_006397.3(RNASEH2A):c.452C>T (p.Ala151Val) rs369325444 0.00001
NM_006397.3(RNASEH2A):c.454C>T (p.Arg152Trp) rs942243073 0.00001
NM_006397.3(RNASEH2A):c.475G>A (p.Gly159Arg) rs746950188 0.00001
NM_006397.3(RNASEH2A):c.490G>A (p.Val164Ile) rs904903620 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.550G>A (p.Val184Met) rs777679893 0.00001
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala) rs1039519462 0.00001
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly) rs1969055468 0.00001
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly) rs1489973272 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val) rs768625813 0.00001
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu) rs1220751647 0.00001
NM_006397.3(RNASEH2A):c.728C>T (p.Thr243Ile) rs1969098175 0.00001
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys) rs546042666 0.00001
NM_006397.3(RNASEH2A):c.760T>C (p.Trp254Arg) rs757666508 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006397.3(RNASEH2A):c.778G>A (p.Glu260Lys) rs749242017 0.00001
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met) rs1337243889 0.00001
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr) rs369098182 0.00001
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs) rs780583621 0.00001
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His) rs756346898 0.00001
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys) rs142642923 0.00001
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe) rs1474678539 0.00001
NM_006579.3(EBP):c.483G>A (p.Gly161=) rs782627994 0.00001
NM_006929.4(SKIC2):c.-43T>C rs886061303 0.00001
NM_006929.5(SKIC2):c.120G>A (p.Glu40=) rs886061305 0.00001
NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe) rs761742617 0.00001
NM_006929.5(SKIC2):c.1965G>C (p.Leu655=) rs765798583 0.00001
NM_006929.5(SKIC2):c.2340+13G>A rs777138745 0.00001
NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu) rs1244150559 0.00001
NM_006929.5(SKIC2):c.2703C>T (p.Leu901=) rs748012447 0.00001
NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=) rs374744199 0.00001
NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp) rs780107431 0.00001
NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys) rs553733225 0.00001
NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=) rs565424838 0.00001
NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr) rs1338384643 0.00001
NM_006929.5(SKIC2):c.422C>T (p.Ala141Val) rs146543642 0.00001
NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser) rs565958554 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly) rs1365138433 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1096-6T>G rs1180195480 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_012275.3(IL36RN):c.*1244A>G rs1685693942 0.00001
NM_012275.3(IL36RN):c.*1258C>A rs147788845 0.00001
NM_012275.3(IL36RN):c.*1585A>G rs886054771 0.00001
NM_012275.3(IL36RN):c.*1891G>A rs1330509196 0.00001
NM_012275.3(IL36RN):c.*426G>T rs1165763738 0.00001
NM_012275.3(IL36RN):c.-28+1G>A rs1440056356 0.00001
NM_012275.3(IL36RN):c.139A>G (p.Asn47Asp) rs1685654399 0.00001
NM_012275.3(IL36RN):c.194G>A (p.Ser65Asn) rs781328070 0.00001
NM_012275.3(IL36RN):c.200G>T (p.Cys67Phe) rs1265230096 0.00001
NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu) rs746109701 0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) rs397514630 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala) rs144420774 0.00001
NM_012275.3(IL36RN):c.333C>T (p.Phe111=) rs199824136 0.00001
NM_012275.3(IL36RN):c.335dup (p.Ser113fs) rs758050726 0.00001
NM_012275.3(IL36RN):c.368C>T (p.Thr123Met) rs397514629 0.00001
NM_012275.3(IL36RN):c.381C>T (p.Ala127=) rs760489144 0.00001
NM_012275.3(IL36RN):c.386A>G (p.Gln129Arg) rs377330697 0.00001
NM_012275.3(IL36RN):c.458A>G (p.Gln153Arg) rs771496493 0.00001
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu) rs267602206 0.00001
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NM_015139.3(SLC35D1):c.392+7A>G rs778524919 0.00001
NM_015139.3(SLC35D1):c.930G>A (p.Thr310=) rs1314283727 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His) rs201250022 0.00001
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg) rs2063734567 0.00001
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp) rs1232169509 0.00001
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser) rs1273114275 0.00001
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066 0.00001
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp) rs773888401 0.00001
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly) rs916801950 0.00001
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile) rs759140727 0.00001
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys) rs776994886 0.00001
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His) rs140417977 0.00001
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys) rs745950444 0.00001
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser) rs1233436073 0.00001
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr) rs1311797673 0.00001
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly) rs145360072 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360 0.00001
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly) rs747437917 0.00001
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala) rs770504610 0.00001
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys) rs6130037 0.00001
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) rs779491090 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp) rs1568788278 0.00001
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu) rs752755786 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly) rs768245328 0.00001
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys) rs765628260 0.00001
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser) rs141599277 0.00001
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn) rs751790128 0.00001
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His) rs1274894909 0.00001
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys) rs758586131 0.00001
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) rs1235922763 0.00001
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) rs1306109528 0.00001
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248 0.00001
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) rs748150321 0.00001
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) rs781223072 0.00001
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe) rs1053324143 0.00001
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=) rs764763884 0.00001
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=) rs763408711 0.00001
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro) rs757614478 0.00001
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val) rs754150741 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_015474.4(SAMHD1):c.852+6T>C rs1360565476 0.00001
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu) rs551472065 0.00001
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu) rs1300702859 0.00001
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys) rs1351629453 0.00001
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) rs755046462 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.979A>G (p.Met327Val) rs1485303029 0.00001
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_018699.4(PRDM5):c.650+7A>G rs751182540 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_020232.5(PSMG2):c.582-1G>A rs763788988 0.00001
NM_020779.4(WDR35):c.2593G>A (p.Val865Met) rs1032877870 0.00001
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_021625.5(TRPV4):c.105C>T (p.Ser35=) rs1167497327 0.00001
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=) rs751939888 0.00001
NM_021625.5(TRPV4):c.300G>A (p.Lys100=) rs370135765 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) rs1297047638 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg) rs1682930814 0.00001
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter) rs768448518 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser) rs764148204 0.00001
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro) rs1408936117 0.00001
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg) rs769101700 0.00001
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln) rs762115082 0.00001
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe) rs754807936 0.00001
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe) rs1353805115 0.00001
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp) rs772981550 0.00001
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys) rs1031540879 0.00001
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser) rs1416059394 0.00001
NM_022168.4(IFIH1):c.1525-1G>A rs774035953 0.00001
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val) rs747683934 0.00001
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn) rs1683546966 0.00001
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro) rs1390303966 0.00001
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala) rs1683546841 0.00001
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu) rs1490646945 0.00001
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala) rs762899578 0.00001
NM_022168.4(IFIH1):c.1641+2T>C rs747781178 0.00001
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val) rs756286361 0.00001
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) rs776280813 0.00001
NM_022168.4(IFIH1):c.1765+1G>A rs1292220162 0.00001
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486 0.00001
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp) rs777639035 0.00001
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys) rs775623826 0.00001
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) rs376940981 0.00001
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys) rs1213233883 0.00001
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile) rs527242746 0.00001
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn) rs746781048 0.00001
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly) rs775545790 0.00001
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923 0.00001
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe) rs1307616619 0.00001
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val) rs766238091 0.00001
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg) rs764553894 0.00001
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn) rs1649189149 0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp) rs1246892209 0.00001
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg) rs1286741340 0.00001
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe) rs759911216 0.00001
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala) rs770138422 0.00001
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter) rs1444920926 0.00001
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) rs763479773 0.00001
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile) rs569872801 0.00001
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg) rs138373022 0.00001
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly) rs746638759 0.00001
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys) rs375179358 0.00001
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp) rs760907862 0.00001
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys) rs752986445 0.00001
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu) rs948646167 0.00001
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg) rs772381153 0.00001
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser) rs371419955 0.00001
NM_022168.4(IFIH1):c.2724A>T (p.Lys908Asn) rs750467622 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu) rs1690961624 0.00001
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn) rs748895438 0.00001
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr) rs1291159972 0.00001
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg) rs747311719 0.00001
NM_022168.4(IFIH1):c.2808-3T>C rs1690950904 0.00001
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys) rs1325840950 0.00001
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile) rs1322389017 0.00001
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter) rs750063177 0.00001
NM_022168.4(IFIH1):c.2898+5G>C rs958493507 0.00001
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser) rs931567064 0.00001
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu) rs764380346 0.00001
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro) rs1475589306 0.00001
NM_022168.4(IFIH1):c.331C>A (p.His111Asn) rs760903088 0.00001
NM_022168.4(IFIH1):c.370dup (p.Thr124fs) rs1414913745 0.00001
NM_022168.4(IFIH1):c.376G>A (p.Val126Met) rs143910264 0.00001
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn) rs763796280 0.00001
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn) rs1257535402 0.00001
NM_022168.4(IFIH1):c.453+1G>A rs967571395 0.00001
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys) rs1018886793 0.00001
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter) rs1455983191 0.00001
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val) rs759418219 0.00001
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala) rs898426581 0.00001
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser) rs1255420302 0.00001
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr) rs1160285695 0.00001
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr) rs1332221584 0.00001
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly) rs1029888708 0.00001
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met) rs370024615 0.00001
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile) rs930052265 0.00001
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala) rs546097679 0.00001
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile) rs746288754 0.00001
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr) rs370138586 0.00001
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895 0.00001
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn) rs1442046271 0.00001
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly) rs1266267435 0.00001
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn) rs1683037048 0.00001
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile) rs1683036042 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) rs73004269 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) rs1230128244 0.00001
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys) rs782522898 0.00001
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala) rs782132637 0.00001
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val) rs782757612 0.00001
NM_024408.4(NOTCH2):c.2780T>G (p.Met927Arg) rs782079844 0.00001
NM_024408.4(NOTCH2):c.2915C>T (p.Thr972Ile) rs1650065665 0.00001
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg) rs1403687128 0.00001
NM_024408.4(NOTCH2):c.2982-3T>C rs1553196359 0.00001
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser) rs782277113 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu) rs1553195867 0.00001
NM_024408.4(NOTCH2):c.3466A>G (p.Asn1156Asp) rs1649892979 0.00001
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) rs782318679 0.00001
NM_024408.4(NOTCH2):c.3653G>A (p.Arg1218Gln) rs138122751 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3895C>T (p.Arg1299Trp) rs371580595 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His) rs1418033447 0.00001
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys) rs760072707 0.00001
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919 0.00001
NM_024408.4(NOTCH2):c.4372A>G (p.Thr1458Ala) rs1388647498 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.4741C>T (p.Arg1581Trp) rs779822957 0.00001
NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys) rs587743026 0.00001
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met) rs891328437 0.00001
NM_024408.4(NOTCH2):c.4964T>C (p.Ile1655Thr) rs1475486687 0.00001
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) rs999822357 0.00001
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His) rs774915799 0.00001
NM_024408.4(NOTCH2):c.5214-10A>G rs761995764 0.00001
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=) rs746117178 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val) rs774262327 0.00001
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322 0.00001
NM_024408.4(NOTCH2):c.6264C>A (p.Asn2088Lys) rs769574168 0.00001
NM_024408.4(NOTCH2):c.6310A>G (p.Arg2104Gly) rs757743077 0.00001
NM_024408.4(NOTCH2):c.6334A>G (p.Met2112Val) rs1237418902 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.6607A>C (p.Asn2203His) rs773806339 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) rs764669567 0.00001
NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His) rs1443569299 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.6982T>C (p.Cys2328Arg) rs757922369 0.00001
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) rs766624616 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.7358G>A (p.Arg2453Gln) rs145366664 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
NM_024570.4(RNASEH2B):c.*12T>C rs773052815 0.00001
NM_024570.4(RNASEH2B):c.*159A>G rs886050292 0.00001
NM_024570.4(RNASEH2B):c.*249T>C rs886050293 0.00001
NM_024570.4(RNASEH2B):c.*29A>G rs1200577478 0.00001
NM_024570.4(RNASEH2B):c.-181G>A rs886050288 0.00001
NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu) rs1458234584 0.00001
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569 0.00001
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val) rs761380890 0.00001
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu) rs999474934 0.00001
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382 0.00001
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala) rs1363075189 0.00001
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256 0.00001
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp) rs754434417 0.00001
NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro) rs1161853513 0.00001
NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile) rs758877268 0.00001
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr) rs555463211 0.00001
NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu) rs1028530418 0.00001
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly) rs1015708068 0.00001
NM_024570.4(RNASEH2B):c.616+5del rs1951890362 0.00001
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys) rs769632378 0.00001
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His) rs755705496 0.00001
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413 0.00001
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu) rs746153565 0.00001
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val) rs1307271194 0.00001
NM_024570.4(RNASEH2B):c.822+5G>A rs761333168 0.00001
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu) rs1395602025 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser) rs780504013 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 0.00001
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=) rs376746146 0.00001
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) rs369238826 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934 0.00001
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) rs774664650 0.00001
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg) rs767211470 0.00001
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) rs754355572 0.00001
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro) rs750625663 0.00001
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln) rs1252274574 0.00001
NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln) rs1407824130 0.00001
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp) rs775211875 0.00001
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) rs1238866581 0.00001
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) rs1060502314 0.00001
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe) rs745611450 0.00001
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val) rs369796310 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr) rs1319096126 0.00001
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) rs1060502311 0.00001
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) rs770619266 0.00001
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala) rs1309491576 0.00001
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln) rs1438650724 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) rs775987124 0.00001
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys) rs761947206 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) rs35151194 0.00001
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) rs1060502312 0.00001
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) rs780965802 0.00001
NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr) rs761874387 0.00001
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) rs199861432 0.00001
NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys) rs917083925 0.00001
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn) rs1269438372 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) rs190252962 0.00001
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys) rs1434246419 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile) rs760309737 0.00001
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys) rs552106000 0.00001
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) rs570363463 0.00001
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His) rs562488006 0.00001
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln) rs773934109 0.00001
NM_031229.4(RBCK1):c.1209+2_1209+3insA rs774461310 0.00001
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp) rs771360977 0.00001
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr) rs776994199 0.00001
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln) rs754890674 0.00001
NM_031229.4(RBCK1):c.1308+3G>A rs757924227 0.00001
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn) rs1201022654 0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys) rs1436848446 0.00001
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=) rs780470011 0.00001
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg) rs770973545 0.00001
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala) rs755353013 0.00001
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala) rs779621384 0.00001
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile) rs753472058 0.00001
NM_031229.4(RBCK1):c.21A>G (p.Lys7=) rs1288403973 0.00001
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val) rs544518686 0.00001
NM_031229.4(RBCK1):c.300G>C (p.Gln100His) rs752266924 0.00001
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys) rs146325218 0.00001
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp) rs751068368 0.00001
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln) rs748158080 0.00001
NM_031229.4(RBCK1):c.542C>A (p.Pro181His) rs952034182 0.00001
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu) rs1165538930 0.00001
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln) rs764357407 0.00001
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp) rs754967314 0.00001
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr) rs752666659 0.00001
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly) rs762315366 0.00001
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro) rs770302308 0.00001
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala) rs773247812 0.00001
NM_031229.4(RBCK1):c.743G>A (p.Arg248His) rs1385885540 0.00001
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg) rs1055669487 0.00001
NM_031229.4(RBCK1):c.82A>G (p.Met28Val) rs909682858 0.00001
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr) rs367600993 0.00001
NM_031229.4(RBCK1):c.916A>C (p.Arg306=) rs1438078445 0.00001
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
NM_032193.4(RNASEH2C):c.*374T>G rs533143132 0.00001
NM_032193.4(RNASEH2C):c.*719T>G rs886048492 0.00001
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly) rs374512840 0.00001
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg) rs1857363681 0.00001
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val) rs767413437 0.00001
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val) rs1284081456 0.00001
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met) rs1857352830 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032193.4(RNASEH2C):c.348+1G>A rs747248530 0.00001
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val) rs751248914 0.00001
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser) rs143452727 0.00001
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys) rs1426277096 0.00001
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) rs757866333 0.00001
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) rs759118175 0.00001
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly) rs771823743 0.00001
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe) rs1261921914 0.00001
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) rs1234973794 0.00001
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu) rs11557810 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) rs377261969 0.00001
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) rs1355811506 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 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.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 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.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 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.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 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.647T>C (p.Leu216Pro) rs142082672 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.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.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
NM_052989.3(IFT122):c.616A>G (p.Ile206Val) rs777023612 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_054027.6(ANKH):c.*1058C>T rs886060084 0.00001
NM_054027.6(ANKH):c.*1137A>C rs1451711728 0.00001
NM_054027.6(ANKH):c.*1451T>C rs1224951926 0.00001
NM_054027.6(ANKH):c.*1470G>A rs1161044546 0.00001
NM_054027.6(ANKH):c.*147T>A rs377727408 0.00001
NM_054027.6(ANKH):c.*1894T>C rs1017314538 0.00001
NM_054027.6(ANKH):c.*2428G>C rs886060077 0.00001
NM_054027.6(ANKH):c.*2644G>C rs886060076 0.00001
NM_054027.6(ANKH):c.*2959T>C rs919414377 0.00001
NM_054027.6(ANKH):c.*30C>T rs772604835 0.00001
NM_054027.6(ANKH):c.*3559G>C rs886060074 0.00001
NM_054027.6(ANKH):c.*5062A>G rs937136472 0.00001
NM_054027.6(ANKH):c.*5725G>T rs187007081 0.00001
NM_054027.6(ANKH):c.*5906T>C rs1423821590 0.00001
NM_054027.6(ANKH):c.*6041T>C rs886060066 0.00001
NM_054027.6(ANKH):c.*700G>A rs765103863 0.00001
NM_054027.6(ANKH):c.*96T>C rs1561015789 0.00001
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_058172.6(ANTXR2):c.*1136C>T rs1026788796 0.00001
NM_058172.6(ANTXR2):c.*130A>G rs1444860170 0.00001
NM_058172.6(ANTXR2):c.*2429G>A rs995476496 0.00001
NM_058172.6(ANTXR2):c.*245A>G rs1486948818 0.00001
NM_058172.6(ANTXR2):c.*263C>T rs1726947408 0.00001
NM_058172.6(ANTXR2):c.*2839G>T rs760081751 0.00001
NM_058172.6(ANTXR2):c.*2888G>A rs1390353083 0.00001
NM_058172.6(ANTXR2):c.*3544A>G rs1437810034 0.00001
NM_058172.6(ANTXR2):c.*3597T>G rs888487534 0.00001
NM_058172.6(ANTXR2):c.*4201A>G rs952978226 0.00001
NM_058172.6(ANTXR2):c.*4462A>G rs974485555 0.00001
NM_058172.6(ANTXR2):c.*4504C>T rs1726763836 0.00001
NM_058172.6(ANTXR2):c.*4917G>A rs1340353111 0.00001
NM_058172.6(ANTXR2):c.*752C>G rs1302997320 0.00001
NM_058172.6(ANTXR2):c.-5G>A rs765908500 0.00001
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr) rs1445493382 0.00001
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp) rs369528902 0.00001
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658 0.00001
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958 0.00001
NM_144687.3(NLRP12):c.*343A>G rs540448720 0.00001
NM_144687.4(NLRP12):c.*290A>C rs886054605 0.00001
NM_144687.4(NLRP12):c.103G>A (p.Ala35Thr) rs149098000 0.00001
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val) rs1435117815 0.00001
NM_144687.4(NLRP12):c.110A>G (p.Glu37Gly) rs200568545 0.00001
NM_144687.4(NLRP12):c.1152G>A (p.Ala384=) rs776027340 0.00001
NM_144687.4(NLRP12):c.1157A>G (p.Gln386Arg) rs1335953782 0.00001
NM_144687.4(NLRP12):c.1166A>G (p.Asn389Ser) rs1169092995 0.00001
NM_144687.4(NLRP12):c.1183G>T (p.Glu395Ter) rs202133847 0.00001
NM_144687.4(NLRP12):c.119A>G (p.Glu40Gly) rs1271135647 0.00001
NM_144687.4(NLRP12):c.121G>A (p.Gly41Ser) rs756104068 0.00001
NM_144687.4(NLRP12):c.1265G>A (p.Gly422Glu) rs993565305 0.00001
NM_144687.4(NLRP12):c.1268T>C (p.Leu423Pro) rs765669036 0.00001
NM_144687.4(NLRP12):c.1281G>A (p.Thr427=) rs528087095 0.00001
NM_144687.4(NLRP12):c.1294A>G (p.Thr432Ala) rs768497979 0.00001
NM_144687.4(NLRP12):c.1351C>T (p.Arg451Cys) rs769847348 0.00001
NM_144687.4(NLRP12):c.1372C>T (p.Gln458Ter) rs757979953 0.00001
NM_144687.4(NLRP12):c.1383G>C (p.Leu461Phe) rs752139831 0.00001
NM_144687.4(NLRP12):c.1388C>T (p.Ser463Phe) rs2092043514 0.00001
NM_144687.4(NLRP12):c.1471G>A (p.Val491Ile) rs200795570 0.00001
NM_144687.4(NLRP12):c.1546A>G (p.Ser516Gly) rs770763005 0.00001
NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly) rs1036210460 0.00001
NM_144687.4(NLRP12):c.1572G>A (p.Met524Ile) rs570169359 0.00001
NM_144687.4(NLRP12):c.1578T>A (p.Tyr526Ter) rs374537127 0.00001
NM_144687.4(NLRP12):c.157C>T (p.Pro53Ser) rs752350185 0.00001
NM_144687.4(NLRP12):c.160C>G (p.Leu54Val) rs764835509 0.00001
NM_144687.4(NLRP12):c.1628G>T (p.Arg543Met) rs1031564464 0.00001
NM_144687.4(NLRP12):c.1643A>G (p.Tyr548Cys) rs773087721 0.00001
NM_144687.4(NLRP12):c.1681C>A (p.Arg561Ser) rs747435135 0.00001
NM_144687.4(NLRP12):c.1739G>A (p.Cys580Tyr) rs774065257 0.00001
NM_144687.4(NLRP12):c.1742G>A (p.Trp581Ter) rs569593868 0.00001
NM_144687.4(NLRP12):c.1743G>T (p.Trp581Cys) rs762543085 0.00001
NM_144687.4(NLRP12):c.179T>C (p.Leu60Pro) rs776191575 0.00001
NM_144687.4(NLRP12):c.1833G>C (p.Leu611Phe) rs763836095 0.00001
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly) rs773831845 0.00001
NM_144687.4(NLRP12):c.2038T>C (p.Cys680Arg) rs777774690 0.00001
NM_144687.4(NLRP12):c.2042C>A (p.Ser681Tyr) rs771927948 0.00001
NM_144687.4(NLRP12):c.2051C>G (p.Ala684Gly) rs753678830 0.00001
NM_144687.4(NLRP12):c.2072+5G>T rs1228818815 0.00001
NM_144687.4(NLRP12):c.2104A>G (p.Ser702Gly) rs2091983142 0.00001
NM_144687.4(NLRP12):c.2106T>A (p.Ser702Arg) rs945063133 0.00001
NM_144687.4(NLRP12):c.2164C>T (p.Arg722Ter) rs750852187 0.00001
NM_144687.4(NLRP12):c.2195T>G (p.Leu732Arg) rs1341283051 0.00001
NM_144687.4(NLRP12):c.2213G>T (p.Arg738Ile) rs560050058 0.00001
NM_144687.4(NLRP12):c.2219C>T (p.Pro740Leu) rs770328920 0.00001
NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser) rs548804330 0.00001
NM_144687.4(NLRP12):c.2244-14C>T rs866055657 0.00001
NM_144687.4(NLRP12):c.2253G>A (p.Arg751=) rs747968386 0.00001
NM_144687.4(NLRP12):c.2282A>G (p.Asp761Gly) rs762644457 0.00001
NM_144687.4(NLRP12):c.2284C>T (p.Leu762Phe) rs752188739 0.00001
NM_144687.4(NLRP12):c.232G>A (p.Glu78Lys) rs1445163997 0.00001
NM_144687.4(NLRP12):c.2341G>A (p.Gly781Ser) rs376676387 0.00001
NM_144687.4(NLRP12):c.2345T>C (p.Val782Ala) rs777591981 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_144687.4(NLRP12):c.2397C>T (p.Cys799=) rs199913848 0.00001
NM_144687.4(NLRP12):c.2479C>G (p.Pro827Ala) rs926941594 0.00001
NM_144687.4(NLRP12):c.250G>A (p.Asp84Asn) rs369320436 0.00001
NM_144687.4(NLRP12):c.260A>G (p.Glu87Gly) rs764855416 0.00001
NM_144687.4(NLRP12):c.2618G>C (p.Cys873Ser) rs1008086271 0.00001
NM_144687.4(NLRP12):c.2625G>C (p.Glu875Asp) rs2091867770 0.00001
NM_144687.4(NLRP12):c.2736G>A (p.Thr912=) rs372372169 0.00001
NM_144687.4(NLRP12):c.2750C>T (p.Thr917Ile) rs760120881 0.00001
NM_144687.4(NLRP12):c.2757-1G>T rs143515989 0.00001
NM_144687.4(NLRP12):c.276G>T (p.Glu92Asp) rs1477252514 0.00001
NM_144687.4(NLRP12):c.2787_2798del (p.Cys930_Leu933del) rs761789218 0.00001
NM_144687.4(NLRP12):c.2789G>C (p.Cys930Ser) rs769829992 0.00001
NM_144687.4(NLRP12):c.2928-4C>G rs980154436 0.00001
NM_144687.4(NLRP12):c.2981T>C (p.Leu994Pro) rs769476370 0.00001
NM_144687.4(NLRP12):c.2992C>A (p.Gln998Lys) rs770386298 0.00001
NM_144687.4(NLRP12):c.2998T>G (p.Leu1000Val) rs1219838859 0.00001
NM_144687.4(NLRP12):c.3035A>T (p.Asp1012Val) rs1400666519 0.00001
NM_144687.4(NLRP12):c.3052C>T (p.Leu1018Phe) rs2091748199 0.00001
NM_144687.4(NLRP12):c.3089G>A (p.Arg1030Gln) rs751680149 0.00001
NM_144687.4(NLRP12):c.3095T>C (p.Leu1032Pro) rs2091747039 0.00001
NM_144687.4(NLRP12):c.3125T>G (p.Met1042Arg) rs1041427916 0.00001
NM_144687.4(NLRP12):c.3127A>G (p.Thr1043Ala) rs1009978100 0.00001
NM_144687.4(NLRP12):c.3133A>C (p.Ser1045Arg) rs1280682130 0.00001
NM_144687.4(NLRP12):c.3148C>T (p.Leu1050Phe) rs1293965801 0.00001
NM_144687.4(NLRP12):c.3152G>A (p.Arg1051Gln) rs777108086 0.00001
NM_144687.4(NLRP12):c.3174C>A (p.Asp1058Glu) rs1690166860 0.00001
NM_144687.4(NLRP12):c.3181T>G (p.Cys1061Gly) rs1345613811 0.00001
NM_144687.4(NLRP12):c.325C>T (p.Gln109Ter) rs200270922 0.00001
NM_144687.4(NLRP12):c.34C>T (p.Arg12Cys) rs370612027 0.00001
NM_144687.4(NLRP12):c.362C>A (p.Pro121Gln) rs773438934 0.00001
NM_144687.4(NLRP12):c.370+2T>G rs202105388 0.00001
NM_144687.4(NLRP12):c.400C>T (p.Arg134Cys) rs200217675 0.00001
NM_144687.4(NLRP12):c.428G>A (p.Arg143His) rs760185291 0.00001
NM_144687.4(NLRP12):c.448T>A (p.Cys150Ser) rs746324074 0.00001
NM_144687.4(NLRP12):c.451G>A (p.Val151Ile) rs777944221 0.00001
NM_144687.4(NLRP12):c.456C>A (p.Asn152Lys) rs374197946 0.00001
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00001
NM_144687.4(NLRP12):c.593C>A (p.Thr198Asn) rs199829926 0.00001
NM_144687.4(NLRP12):c.619C>T (p.Pro207Ser) rs750186083 0.00001
NM_144687.4(NLRP12):c.623A>C (p.Glu208Ala) rs771274238 0.00001
NM_144687.4(NLRP12):c.631C>T (p.Arg211Cys) rs561178624 0.00001
NM_144687.4(NLRP12):c.641T>C (p.Val214Ala) rs886054610 0.00001
NM_144687.4(NLRP12):c.644T>C (p.Met215Thr) rs768852576 0.00001
NM_144687.4(NLRP12):c.653C>T (p.Ala218Val) rs749659859 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144687.4(NLRP12):c.656C>A (p.Ala219Glu) rs1321841169 0.00001
NM_144687.4(NLRP12):c.704C>T (p.Ala235Val) rs141779249 0.00001
NM_144687.4(NLRP12):c.753C>G (p.Asn251Lys) rs553174582 0.00001
NM_144687.4(NLRP12):c.7C>T (p.Arg3Ter) rs761868541 0.00001
NM_144687.4(NLRP12):c.823C>G (p.Pro275Ala) rs1303607100 0.00001
NM_144687.4(NLRP12):c.854T>C (p.Val285Ala) rs910232490 0.00001
NM_144687.4(NLRP12):c.861G>A (p.Glu287=) rs765562062 0.00001
NM_144687.4(NLRP12):c.920A>G (p.Gln307Arg) rs753109542 0.00001
NM_144687.4(NLRP12):c.943G>A (p.Glu315Lys) rs766680396 0.00001
NM_144687.4(NLRP12):c.953G>A (p.Arg318Gln) rs1361737454 0.00001
NM_144687.4(NLRP12):c.961G>A (p.Glu321Lys) rs769424856 0.00001
NM_144687.4(NLRP12):c.964C>G (p.Leu322Val) rs745451806 0.00001
NM_148919.4(PSMB8):c.*178G>A rs886061309 0.00001
NM_148919.4(PSMB8):c.*57C>T rs1371496516 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) rs1007524117 0.00001
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile) rs140150936 0.00001
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp) rs201142158 0.00001
NM_148919.4(PSMB8):c.316G>A (p.Val106Met) rs1254158106 0.00001
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile) rs754243092 0.00001
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) rs767636318 0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) rs757343575 0.00001
NM_148919.4(PSMB8):c.407+7G>A rs1020393626 0.00001
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln) rs1181818643 0.00001
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr) rs749800130 0.00001
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) rs372030309 0.00001
NM_148919.4(PSMB8):c.492C>T (p.Gly164=) rs369474146 0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) rs747199589 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) rs767937121 0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) rs1361855322 0.00001
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr) rs1582602825 0.00001
NM_148919.4(PSMB8):c.756G>A (p.Lys252=) rs200016893 0.00001
NM_173841.3(IL1RN):c.66C>T (p.Asp22=) rs760885026 0.00001
NM_173842.3(IL1RN):c.*1040G>A rs886054777 0.00001
NM_173842.3(IL1RN):c.*130C>T rs541642811 0.00001
NM_173842.3(IL1RN):c.*165C>T rs886054773 0.00001
NM_173842.3(IL1RN):c.*245G>A rs886054774 0.00001
NM_173842.3(IL1RN):c.*601C>G rs572782935 0.00001
NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser) rs777996358 0.00001
NM_173842.3(IL1RN):c.192T>C (p.Asn64=) rs146473306 0.00001
NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser) rs761355602 0.00001
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr) rs1202378531 0.00001
NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys) rs764209607 0.00001
NM_173842.3(IL1RN):c.305G>C (p.Arg102Thr) rs371848779 0.00001
NM_173842.3(IL1RN):c.336C>T (p.Asp112=) rs751937390 0.00001
NM_173842.3(IL1RN):c.343G>A (p.Glu115Lys) rs767854418 0.00001
NM_173842.3(IL1RN):c.388A>G (p.Ser130Gly) rs1687216601 0.00001
NM_173842.3(IL1RN):c.423C>T (p.Cys141=) rs753224633 0.00001
NM_173842.3(IL1RN):c.446C>T (p.Ala149Val) rs374276440 0.00001
NM_173842.3(IL1RN):c.466G>A (p.Val156Ile) rs56115412 0.00001
NM_173842.3(IL1RN):c.490G>A (p.Glu164Lys) rs188868709 0.00001
NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg) rs573468124 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_198282.4(STING1):c.1003C>A (p.Gln335Lys) rs1254726825 0.00001
NM_198282.4(STING1):c.1054C>T (p.Pro352Ser) rs977753165 0.00001
NM_198282.4(STING1):c.1123C>T (p.Arg375Cys) rs144606267 0.00001
NM_198282.4(STING1):c.161T>C (p.Leu54Pro) rs1292788155 0.00001
NM_198282.4(STING1):c.174G>T (p.Leu58=) rs763523329 0.00001
NM_198282.4(STING1):c.175C>T (p.Leu59=) rs760161824 0.00001
NM_198282.4(STING1):c.184G>A (p.Gly62Arg) rs766819764 0.00001
NM_198282.4(STING1):c.211C>A (p.Arg71Ser) rs768649460 0.00001
NM_198282.4(STING1):c.233G>A (p.Arg78Gln) rs11554775 0.00001
NM_198282.4(STING1):c.256C>T (p.Arg86Trp) rs867650202 0.00001
NM_198282.4(STING1):c.26C>T (p.Ser9Phe) rs888652949 0.00001
NM_198282.4(STING1):c.281G>A (p.Arg94His) rs780666926 0.00001
NM_198282.4(STING1):c.2T>C (p.Met1Thr) rs754838823 0.00001
NM_198282.4(STING1):c.337G>A (p.Val113Ile) rs770875890 0.00001
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) rs769494344 0.00001
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NM_198282.4(STING1):c.411+4T>C rs375733291 0.00001
NM_198282.4(STING1):c.418G>A (p.Ala140Thr) rs1370637313 0.00001
NM_198282.4(STING1):c.430A>G (p.Ile144Val) rs755245286 0.00001
NM_198282.4(STING1):c.493A>G (p.Ile165Val) rs768359336 0.00001
NM_198282.4(STING1):c.49G>A (p.Gly17Arg) rs759944012 0.00001
NM_198282.4(STING1):c.4C>T (p.Pro2Ser) rs1223377482 0.00001
NM_198282.4(STING1):c.532C>T (p.Arg178Trp) rs1240603758 0.00001
NM_198282.4(STING1):c.539G>A (p.Arg180Gln) rs759123296 0.00001
NM_198282.4(STING1):c.547A>C (p.Asn183His) rs773990834 0.00001
NM_198282.4(STING1):c.572G>A (p.Arg191Gln) rs750561744 0.00001
NM_198282.4(STING1):c.590G>A (p.Arg197Gln) rs760564156 0.00001
NM_198282.4(STING1):c.697G>A (p.Ala233Thr) rs201670175 0.00001
NM_198282.4(STING1):c.709G>T (p.Asp237Tyr) rs1291110297 0.00001
NM_198282.4(STING1):c.751G>A (p.Gly251Arg) rs1409697347 0.00001
NM_198282.4(STING1):c.767C>T (p.Thr256Ile) rs769794754 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_198282.4(STING1):c.946+1G>T rs375560052 0.00001
NM_198282.4(STING1):c.946+6G>T rs768799195 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=) rs1372708758 0.00001
NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln) rs759502435 0.00001
NM_199242.3(UNC13D):c.731G>A (p.Gly244Glu) rs975849011 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.-30-10T>A rs371744028 0.00001
NM_207122.2(EXT2):c.-31+453A>G rs1032612888 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) rs1473876438 0.00001
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) rs1403873034 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) rs750549318 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) rs372914384 0.00001
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) rs766600182 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) rs762533540 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) rs1182974716 0.00001
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln) rs376696206 0.00001
NM_212482.4(FN1):c.2429C>T (p.Ala810Val) rs568343071 0.00001
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val) rs80101897 0.00001
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala) rs770129874 0.00001
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser) rs2059079828 0.00001
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile) rs201469351 0.00001
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg) rs760993609 0.00001
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg) rs764285223 0.00001
NM_212482.4(FN1):c.5602G>A (p.Val1868Met) rs369072643 0.00001
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu) rs145946514 0.00001
NM_212482.4(FN1):c.5735G>A (p.Arg1912His) rs775421803 0.00001
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn) rs201097962 0.00001
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter) rs754396418 0.00001
NM_212482.4(FN1):c.665G>A (p.Arg222His) rs778971356 0.00001
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile) rs751303604 0.00001
NM_212482.4(FN1):c.749A>C (p.Asp250Ala) rs372163398 0.00001
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NC_000001.10:g.(?_11847760)_(12066770_?)dup
NC_000001.10:g.(?_119427355)_(120529725_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_11994837)_(12034865_?)dup
NC_000001.10:g.(?_12008013)_(12010597_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.10:g.(?_120496146)_(120497875_?)del
NC_000001.10:g.(?_154557262)_(154557840_?)dup
NC_000001.10:g.(?_154569261)_(154571081_?)dup
NC_000001.10:g.(?_158581054)_(162750036_?)dup
NC_000001.10:g.(?_160309679)_(160320060_?)dup
NC_000001.10:g.(?_2160186)_(2238224_?)dup
NC_000001.10:g.(?_218607404)_(218607810_?)dup
NC_000001.10:g.(?_2234397)_(2238204_?)dup
NC_000001.10:g.(?_247599252)_(248059833_?)dup
NC_000001.10:g.(?_247607254)_(247617036_?)dup
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NC_000001.10:g.(?_955543)_(2957600_?)del
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NC_000001.11:g.(?_247418775)_(247448734_?)del
NC_000001.11:g.(?_247418775)_(247453734_?)dup
NC_000002.11:g.(?_113875596)_(113890448_?)dup
NC_000002.11:g.(?_113877623)_(113877725_?)del
NC_000002.11:g.(?_163123710)_(163174817_?)del
NC_000002.11:g.(?_163123710)_(163174817_?)dup
NC_000002.11:g.(?_163128716)_(163134858_?)del
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000002.11:g.(?_163163199)_(163163385_?)del
NC_000002.11:g.(?_31558804)_(32481864_?)dup
NC_000002.11:g.(?_32288901)_(32481844_?)dup
NC_000002.11:g.(?_32449542)_(32461428_?)dup
NC_000002.11:g.(?_32461296)_(32466214_?)del
NC_000002.11:g.(?_32466082)_(32481844_?)dup
NC_000002.11:g.(?_32474656)_(32481844_?)dup
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000002.12:g.(?_32241013)_(32241145_?)del
NC_000002.12:g.(?_9490157)_(9555625_?)dup
NC_000002.12:g.(?_9509959)_(9510151_?)dup
NC_000004.11:g.(?_2822345)_(2822500_?)del
NC_000004.11:g.(?_2822345)_(2822500_?)dup
NC_000004.11:g.(?_493125)_(3495228_?)del
NC_000004.11:g.(?_493125)_(3495228_?)dup
NC_000004.12:g.(?_2059492)_(2833854_?)del
NC_000004.12:g.(?_2812378)_(2820773_?)dup
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128408654)_(128530713_?)del
NC_000005.10:g.(?_128408664)_(128530703_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.10:g.(?_139476241)_(139481724_?)dup
NC_000005.9:g.(?_127595147)_(127873296_?)del
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127666331)_(127799615_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NC_000005.9:g.(?_127689859)_(127693060_?)del
NC_000005.9:g.(?_127712503)_(127716032_?)del
NC_000005.9:g.(?_136957787)_(138861289_?)del
NC_000005.9:g.(?_138855826)_(138861309_?)del
NC_000005.9:g.(?_138855846)_(138858113_?)del
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NC_000006.11:g.(?_30695893)_(36953949_?)dup
NC_000006.11:g.(?_32802911)_(32808844_?)dup
NC_000008.10:g.(?_117647788)_(120797526_?)dup
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.10:g.65720153_65720165del
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_44219359)_(44228529_?)del
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NC_000011.9:g.(?_65325080)_(65639825_?)del
NC_000012.11:g.(?_109921357)_(110034382_?)dup
NC_000012.11:g.(?_6442215)_(6443430_?)dup
NC_000012.11:g.(?_98909636)_(98909934_?)del
NC_000012.11:g.(?_98909646)_(98909944_?)dup
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del
NC_000014.8:g.(?_76425530)_(76432058_?)dup
NC_000014.8:g.(?_76437449)_(76438081_?)del
NC_000015.10:g.(?_77030482)_(77037196_?)dup
NC_000015.9:g.(?_48703167)_(48726930_?)dup
NC_000015.9:g.(?_48703177)_(48726920_?)dup
NC_000015.9:g.(?_48703187)_(48748979_?)dup
NC_000015.9:g.(?_48703187)_(48936966_?)dup
NC_000015.9:g.(?_48729138)_(48730134_?)dup
NC_000015.9:g.(?_48760115)_(48760319_?)dup
NC_000015.9:g.(?_77287895)_(77329537_?)dup
NC_000015.9:g.(?_77287915)_(77287970_?)dup
NC_000015.9:g.(?_77310469)_(77329517_?)dup
NC_000015.9:g.(?_77310861)_(77315342_?)del
NC_000015.9:g.(?_77310868)_77315342del
NC_000015.9:g.(?_77317819)_(77321013_?)del
NC_000015.9:g.(?_77320875)_(77328296_?)del
NC_000015.9:g.(?_77327829)_(77327924_?)del
NC_000016.10:g.(?_3243121)_(3257201_?)dup
NC_000016.10:g.(?_81854424)_(81859183_?)del
NC_000016.10:g.3256984G>C
NC_000016.9:g.(?_3293141)_(3294608_?)del
NC_000016.9:g.(?_3293141)_(3297266_?)del
NC_000016.9:g.(?_3304138)_(3306587_?)del
NC_000016.9:g.(?_3306291)_(3306587_?)dup
NC_000016.9:g.(?_81819595)_(81819807_?)del
NC_000016.9:g.(?_81888029)_(81929552_?)dup
NC_000016.9:g.(?_81934197)_(81991623_?)dup
NC_000016.9:g.(?_81953069)_(81991603_?)del
NC_000016.9:g.(?_81957070)_(81957219_?)del
NC_000018.9:g.(?_2920271)_(2931461_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NC_000018.9:g.(?_2920291)_(2940730_?)del
NC_000018.9:g.(?_2920291)_(3457938_?)dup
NC_000019.10:g.(?_11574990)_(11577337_?)dup
NC_000019.10:g.(?_53794029)_(53794156_?)del
NC_000019.10:g.(?_53794029)_(53798433_?)dup
NC_000019.10:g.(?_53794029)_(53801417_?)del
NC_000019.10:g.(?_53798223)_(53801417_?)del
NC_000019.10:g.(?_53805260)_(53805470_?)del
NC_000019.10:g.(?_53807475)_(53807688_?)del
NC_000019.10:g.(?_53814888)_(53815008_?)del
NC_000019.10:g.(?_53823866)_(53824194_?)del
NC_000019.9:g.(?_12917488)_(13010355_?)dup
NC_000019.9:g.(?_12923877)_(12924280_?)del
NC_000019.9:g.(?_12923877)_(12924280_?)dup
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NC_000019.9:g.(?_54297283)_(54299303_?)del
NC_000019.9:g.(?_54297283)_(54299303_?)dup
NC_000019.9:g.(?_54297283)_(54318262_?)dup
NC_000019.9:g.(?_54297283)_(54327448_?)dup
NC_000019.9:g.(?_54297303)_(54297410_?)del
NC_000019.9:g.(?_54297303)_(54299303_?)dup
NC_000019.9:g.(?_54297303)_(54301687_?)del
NC_000019.9:g.(?_54297303)_(54301687_?)dup
NC_000019.9:g.(?_54297303)_(54304671_?)dup
NC_000019.9:g.(?_54297303)_(54307396_?)del
NC_000019.9:g.(?_54297303)_(54307396_?)dup
NC_000019.9:g.(?_54297303)_(54314562_?)dup
NC_000019.9:g.(?_54297303)_(54410149_?)dup
NC_000019.9:g.(?_54299093)_(54299303_?)del
NC_000019.9:g.(?_54299093)_(54299303_?)dup
NC_000019.9:g.(?_54299093)_(54304671_?)dup
NC_000019.9:g.(?_54299093)_(54327428_?)dup
NC_000019.9:g.(?_54301477)_(54301687_?)del
NC_000019.9:g.(?_54301477)_(54301687_?)dup
NC_000019.9:g.(?_54301477)_(54304671_?)dup
NC_000019.9:g.(?_54301477)_(54318262_?)dup
NC_000019.9:g.(?_54310729)_(54310939_?)del
NC_000019.9:g.(?_54310729)_(54327428_?)dup
NC_000019.9:g.(?_54327120)_(54327428_?)del
NC_000019.9:g.(?_54327120)_(54327428_?)dup
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.10:g.(?_35526205)_(35580046_?)dup
NC_000020.10:g.(?_35539601)_(35580066_?)dup
NC_000020.10:g.(?_35545105)_(35547942_?)del
NC_000020.10:g.(?_35547747)_(35547942_?)del
NC_000020.10:g.(?_35559143)_(35575227_?)dup
NC_000020.10:g.(?_35563412)_(35569534_?)del
NC_000020.10:g.(?_35563412)_(35580046_?)dup
NC_000020.10:g.(?_35569422)_(36500415_?)dup
NC_000020.10:g.(?_389363)_(411094_?)dup
NC_000020.10:g.(?_389402)_(390689_?)dup
NC_000020.10:g.(?_401495)_(443049_?)dup
NC_000020.10:g.(?_45362375)_(45362493_?)del
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NC_000020.11:g.(?_408719)_(765794_?)dup
NC_000020.11:g.36904246CCT[1]
NC_000021.8:g.(?_34638751)_(34668714_?)dup
NC_000021.8:g.(?_34668469)_(34668662_?)dup
NC_000022.10:g.(?_17565962)_(17672720_?)dup
NC_000022.10:g.(?_17565962)_(18570861_?)dup
NC_000022.10:g.(?_17662353)_(17663671_?)dup
NC_000022.10:g.(?_17662373)_(17672720_?)dup
NC_000022.10:g.(?_17662373)_(17690567_?)dup
NC_000022.10:g.(?_17680419)_(17690587_?)dup
NC_000022.10:g.(?_17684433)_(17690567_?)dup
NC_012920.1:m.14372C>A rs1556424431
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) rs1554083153
NM_000038.6(APC):c.2160G>A (p.Met720Ile) rs1283428855
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) rs1765215022
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) rs1580633119
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) rs1554085052
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) rs587781600
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) rs1766164614
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) rs773539706
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) rs1561612604
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) rs1766608503
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala) rs2137483648
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter) rs1007336407
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly) rs2137537213
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_000081.4(LYST):c.10149T>C (p.Tyr3383=) rs2103101927
NM_000081.4(LYST):c.10374G>A (p.Pro3458=) rs1661644862
NM_000081.4(LYST):c.10940+10_10940+12del rs1659473887
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.45T>C (p.Asp15=) rs1675833748
NM_000081.4(LYST):c.4929A>G (p.Lys1643=) rs750662250
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.7895G>C (p.Ser2632Thr) rs1665932391
NM_000081.4(LYST):c.8117T>G (p.Phe2706Cys) rs1260961740
NM_000081.4(LYST):c.8266C>T (p.His2756Tyr) rs2103258935
NM_000081.4(LYST):c.9064A>G (p.Ser3022Gly) rs2103201639
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys) rs904057644
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys) rs1555571800
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg) rs1554398713
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000090.4(COL3A1):c.1194+5G>C rs1688245023
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000095.3(COMP):c.1521C>A (p.Asp507Glu) rs2145900494
NM_000095.3(COMP):c.1581G>A (p.Thr527=) rs1190598083
NM_000112.4(SLC26A2):c.1442G>C (p.Ser481Thr) rs1755089465
NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=) rs1054014161
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro) rs1755026324
NM_000127.3(EXT1):c.*146G>C rs886062634
NM_000127.3(EXT1):c.*82C>G rs886062635
NM_000127.3(EXT1):c.-129A>G rs886062637
NM_000127.3(EXT1):c.-139A>G rs886062638
NM_000127.3(EXT1):c.-16G>A rs1817895495
NM_000127.3(EXT1):c.-612G>A rs886062640
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.3(EXT1):c.1013G>A (p.Arg338His) rs1288618931
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu) rs1206600641
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
NM_000127.3(EXT1):c.1056+4A>G
NM_000127.3(EXT1):c.1057-8T>C
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del) rs1782100732
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
NM_000127.3(EXT1):c.1164+3A>G
NM_000127.3(EXT1):c.1165-3C>G rs1812078461
NM_000127.3(EXT1):c.1165-6T>G rs1812078551
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr) rs1812077443
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys) rs755694640
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro) rs1812075737
NM_000127.3(EXT1):c.1284+2dup
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe) rs2129749685
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu) rs1811942159
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu) rs1430395411
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly) rs2129749125
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser) rs2129749069
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr) rs746738537
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
NM_000127.3(EXT1):c.1536+3G>A rs2129740657
NM_000127.3(EXT1):c.1536+5G>C
NM_000127.3(EXT1):c.1536G>C (p.Gln512His) rs1811889486
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr) rs751582814
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr) rs2130045112
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr) rs1823251698
NM_000127.3(EXT1):c.1883+5G>A
NM_000127.3(EXT1):c.1883+6del
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del) rs1823215172
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu) rs187891947
NM_000127.3(EXT1):c.18C>G (p.Arg6=) rs1199624139
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu) rs1823214606
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala) rs1242925512
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp) rs2130046079
NM_000127.3(EXT1):c.200C>A (p.Pro67His) rs371817652
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg) rs371817652
NM_000127.3(EXT1):c.2055+5G>A rs1823212383
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys) rs1586987089
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met) rs756718693
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro) rs751787859
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=) rs1823135353
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
NM_000127.3(EXT1):c.238A>G (p.Ile80Val) rs1817886276
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.260A>T (p.Asp87Val) rs2130044605
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn) rs1402667727
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn) rs2130044422
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu) rs1817884143
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe) rs769143352
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe) rs2130044245
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg) rs1178109514
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu) rs761940324
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe) rs1817880635
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg) rs1817880148
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr) rs2130043370
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro) rs1227559201
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser) rs1817878624
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys) rs775696069
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) rs1817877271
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr) rs1817877229
NM_000127.3(EXT1):c.568_570del (p.His190del) rs1817877188
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn) rs1817877044
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu) rs2130042837
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala) rs1817876310
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys) rs1817876148
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe) rs1817893321
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.692_694del (p.Asp231del) rs1817873196
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg) rs1817893036
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu) rs1436385815
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser) rs1817871592
NM_000127.3(EXT1):c.773C>A (p.Pro258His) rs2130041856
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile) rs2130041754
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr) rs2130041549
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu) rs372750330
NM_000127.3(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser) rs1817868656
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg) rs1413726979
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
NM_000127.3(EXT1):c.934_936del (p.Cys312del) rs1817867722
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser) rs748945641
NM_000127.3(EXT1):c.962+5G>C
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer) rs2129791337
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer) rs1555398643
NM_000138.4(FBN1):c.7703_7708delTGGACG rs1060501015
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-117del rs193922178
NM_000138.5(FBN1):c.-12C>T
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr) rs2141336224
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser) rs2141336224
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg) rs794728163
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu) rs750653834
NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val) rs2043845991
NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro) rs536588176
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro) rs2043845566
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser) rs1890260265
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
NM_000138.5(FBN1):c.1128_1147+2dup
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg) rs1274000764
NM_000138.5(FBN1):c.1141G>A (p.Ala381Thr)
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
NM_000138.5(FBN1):c.1147+3A>C rs1597583956
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1148-16del
NM_000138.5(FBN1):c.1149G>A (p.Glu383=)
NM_000138.5(FBN1):c.1156A>C (p.Asn386His) rs1597581597
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.116C>A (p.Ala39Asp)
NM_000138.5(FBN1):c.116C>G (p.Ala39Gly)
NM_000138.5(FBN1):c.1174C>A (p.Pro392Thr)
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala) rs886039155
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu) rs1363393532
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys) rs2141331103
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu) rs1597581542
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln) rs779930519
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1216C>A (p.Leu406Ile)
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly) rs1158441291
NM_000138.5(FBN1):c.1222C>T (p.Pro408Ser)
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro) rs1890259872
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser) rs2141331032
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu) rs368089138
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr) rs2043799392
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr) rs766081333
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys) rs2043799037
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe) rs2043799037
NM_000138.5(FBN1):c.1315C>T (p.Arg439Trp)
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys) rs1890259213
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
NM_000138.5(FBN1):c.1328-9T>A rs1209671382
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser) rs1890259134
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys) rs2141330047
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser) rs587782943
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys) rs762400500
NM_000138.5(FBN1):c.140G>A (p.Gly47Asp)
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu) rs1247260475
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
NM_000138.5(FBN1):c.1454G>A (p.Arg485His)
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu) rs1597580913
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.1468+5del
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn) rs1555400371
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1469-2_1470dup rs1597580040
NM_000138.5(FBN1):c.1469-5T>G rs1060504144
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala) rs1382204819
NM_000138.5(FBN1):c.146G>T (p.Gly49Val)
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala) rs2043779139
NM_000138.5(FBN1):c.1474G>A (p.Asp492Asn)
NM_000138.5(FBN1):c.1486A>G (p.Lys496Glu)
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
NM_000138.5(FBN1):c.1504G>C (p.Gly502Arg)
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys) rs762111810
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val) rs2043778389
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
NM_000138.5(FBN1):c.1524G>C (p.Gln508His) rs1566916256
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
NM_000138.5(FBN1):c.1530G>C (p.Ser510=)
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile) rs1555400280
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu) rs1057524406
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val) rs794728169
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val) rs2140787437
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1582T>A (p.Cys528Ser)
NM_000138.5(FBN1):c.1589-12C>G
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
NM_000138.5(FBN1):c.1592T>G (p.Ile531Ser)
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly) rs745422205
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
NM_000138.5(FBN1):c.160A>C (p.Lys54Gln)
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile) rs1060501098
NM_000138.5(FBN1):c.162A>G (p.Lys54=) rs777116853
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
NM_000138.5(FBN1):c.164+3A>C rs1597652265
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn) rs112269822
NM_000138.5(FBN1):c.1641C>G (p.Ile547Met)
NM_000138.5(FBN1):c.165-14T>A
NM_000138.5(FBN1):c.165-32del rs193922180
NM_000138.5(FBN1):c.165-46CTT[2] rs386134232
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile) rs2043746162
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val)
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
NM_000138.5(FBN1):c.1666G>A (p.Val556Met) rs1239988676
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
NM_000138.5(FBN1):c.1700G>A (p.Gly567Glu) rs768489747
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
NM_000138.5(FBN1):c.1714+4A>G rs1189850321
NM_000138.5(FBN1):c.1714+5T>C rs2043745384
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn) rs2141323230
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly) rs1555399976
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr) rs2141321700
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys) rs1259811604
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser) rs794728174
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
NM_000138.5(FBN1):c.1734A>G (p.Ile578Met)
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
NM_000138.5(FBN1):c.1743G>A (p.Met581Ile)
NM_000138.5(FBN1):c.1752T>A (p.Asn584Lys)
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala) rs1060501041
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1773T>A (p.Asp591Glu)
NM_000138.5(FBN1):c.1798C>G (p.Pro600Ala)
NM_000138.5(FBN1):c.1798C>T (p.Pro600Ser)
NM_000138.5(FBN1):c.179G>A (p.Gly60Glu)
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser) rs1555399952
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
NM_000138.5(FBN1):c.1813G>T (p.Ala605Ser)
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu) rs368283028
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1841T>C (p.Ile614Thr)
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1856C>T (p.Thr619Ile)
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu) rs1555399833
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr) rs1597575080
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg) rs1597575080
NM_000138.5(FBN1):c.187T>C (p.Tyr63His)
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1895A>G (p.Asp632Gly)
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys) rs2141317297
NM_000138.5(FBN1):c.1908A>G (p.Arg636=) rs886039089
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys) rs2141317254
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg) rs1555399813
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser) rs1555399812
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu) rs2141317175
NM_000138.5(FBN1):c.1960+6A>T rs1200860234
NM_000138.5(FBN1):c.1960G>C (p.Asp654His) rs1566913969
NM_000138.5(FBN1):c.1961-3T>C
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.1967A>G (p.His656Arg) rs1555399777
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr) rs2043686451
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) rs794728181
NM_000138.5(FBN1):c.1979C>T (p.Thr660Ile)
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
NM_000138.5(FBN1):c.1992A>G (p.Gly664=)
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
NM_000138.5(FBN1):c.2006A>T (p.Gln669Leu)
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys) rs2141315849
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln) rs908212152
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) rs794728298
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg) rs1555405660
NM_000138.5(FBN1):c.2071G>A (p.Ala691Thr)
NM_000138.5(FBN1):c.2084C>A (p.Pro695His) rs1555399754
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg) rs2044669023
NM_000138.5(FBN1):c.2091G>T (p.Gln697His) rs1555399752
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu) rs2141315649
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
NM_000138.5(FBN1):c.2102C>G (p.Ala701Gly)
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
NM_000138.5(FBN1):c.2113+4T>C rs2141315610
NM_000138.5(FBN1):c.2114-11A>C
NM_000138.5(FBN1):c.2114-5T>G
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val) rs1426292408
NM_000138.5(FBN1):c.2137A>G (p.Ser713Gly)
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg) rs1566912644
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg) rs1566912644
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu) rs2141308882
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly)
NM_000138.5(FBN1):c.2165G>A (p.Ser722Asn)
NM_000138.5(FBN1):c.2166T>G (p.Ser722Arg)
NM_000138.5(FBN1):c.2167+2dup rs2043632840
NM_000138.5(FBN1):c.2167+4A>G rs2141308773
NM_000138.5(FBN1):c.2168-11T>A
NM_000138.5(FBN1):c.2168-11T>G
NM_000138.5(FBN1):c.2168-15T>G
NM_000138.5(FBN1):c.2168-9G>T rs747772665
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr) rs878853677
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala) rs2043616665
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val) rs1555399370
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg) rs1555405654
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del) rs2043616319
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2263G>A (p.Glu755Lys)
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala) rs2141306342
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys) rs2043616066
NM_000138.5(FBN1):c.2291T>C (p.Val764Ala)
NM_000138.5(FBN1):c.2294-11T>A
NM_000138.5(FBN1):c.2294-3C>A
NM_000138.5(FBN1):c.2294-6_2294-5del rs2043607725
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala) rs794728189
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val) rs2043607479
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser) rs2043607383
NM_000138.5(FBN1):c.2329G>C (p.Asp777His)
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro) rs886039058
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del) rs2043606899
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys) rs1057522903
NM_000138.5(FBN1):c.2350A>T (p.Thr784Ser)
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del) rs1597569606
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val) rs1555399267
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys) rs1555399258
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) rs794728191
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2420-8T>A rs140582
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly) rs1555399211
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn) rs2043600469
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
NM_000138.5(FBN1):c.246C>G (p.Val82=)
NM_000138.5(FBN1):c.247+4del
NM_000138.5(FBN1):c.247+5G>A rs2044668542
NM_000138.5(FBN1):c.247+5G>C
NM_000138.5(FBN1):c.247+9A>G rs1298547542
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp) rs1555399200
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
NM_000138.5(FBN1):c.248-151A>G
NM_000138.5(FBN1):c.248-4A>G rs1597631751
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys) rs375382957
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu) rs1206249804
NM_000138.5(FBN1):c.24G>C (p.Glu8Asp)
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.252T>C (p.Ile84=)
NM_000138.5(FBN1):c.2535C>T (p.Cys845=)
NM_000138.5(FBN1):c.2539+3A>G
NM_000138.5(FBN1):c.2539+5T>C
NM_000138.5(FBN1):c.2539+6T>G rs2043598669
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn) rs878853680
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile) rs878853680
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val) rs2043596507
NM_000138.5(FBN1):c.2548A>C (p.Lys850Gln) rs1481779864
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser) rs2141303833
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala) rs2141303822
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp) rs111981744
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg) rs2043596063
NM_000138.5(FBN1):c.2567C>G (p.Thr856Ser)
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
NM_000138.5(FBN1):c.256C>T (p.Arg86Trp)
NM_000138.5(FBN1):c.2572A>G (p.Ile858Val)
NM_000138.5(FBN1):c.2579G>A (p.Gly860Glu)
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln) rs2044650738
NM_000138.5(FBN1):c.2581C>G (p.Arg861Gly)
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
NM_000138.5(FBN1):c.2608A>G (p.Thr870Ala)
NM_000138.5(FBN1):c.260A>G (p.His87Arg) rs1060501080
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe) rs2043595271
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe) rs1555399153
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr) rs781682561
NM_000138.5(FBN1):c.2657C>G (p.Pro886Arg)
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro) rs1393818056
NM_000138.5(FBN1):c.2677+3A>G rs1060501071
NM_000138.5(FBN1):c.2677+5G>A rs1085307946
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.2678-6T>G rs1555399102
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly)
NM_000138.5(FBN1):c.2683A>T (p.Ile895Leu)
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala) rs1555399094
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
NM_000138.5(FBN1):c.2704A>G (p.Arg902Gly)
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) rs1060501091
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe) rs1057523406
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
NM_000138.5(FBN1):c.2729-8C>A rs775257418
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000138.5(FBN1):c.2734G>C (p.Asp912His)
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del) rs1566910954
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu) rs373644734
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser) rs1555398992
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala) rs372203315
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
NM_000138.5(FBN1):c.2791G>A (p.Gly931Arg)
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala) rs200078617
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val) rs200078617
NM_000138.5(FBN1):c.2795C>T (p.Ser932Leu)
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
NM_000138.5(FBN1):c.2802G>T (p.Lys934Asn)
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
NM_000138.5(FBN1):c.2854+4A>G
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys) rs886039100
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys) rs745709588
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr) rs1597565510
NM_000138.5(FBN1):c.2927G>T (p.Arg976Leu)
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser) rs748915171
NM_000138.5(FBN1):c.293A>G (p.Asn98Ser)
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe) rs2141297315
NM_000138.5(FBN1):c.2949C>A (p.Ser983=) rs769307676
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro) rs2141297282
NM_000138.5(FBN1):c.295A>G (p.Met99Val)
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys) rs2141297274
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
NM_000138.5(FBN1):c.2966G>C (p.Gly989Ala)
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
NM_000138.5(FBN1):c.2983G>A (p.Glu995Lys)
NM_000138.5(FBN1):c.2992A>G (p.Met998Val) rs750727783
NM_000138.5(FBN1):c.2993T>C (p.Met998Thr)
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile) rs2043543012
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys) rs754040534
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser)
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His) rs113990281
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg) rs113990281
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu) rs1597565278
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu) rs2141297017
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn) rs1555398771
NM_000138.5(FBN1):c.3082+5A>G
NM_000138.5(FBN1):c.3082+9T>G rs746303949
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
NM_000138.5(FBN1):c.3085A>G (p.Ile1029Val)
NM_000138.5(FBN1):c.3103A>G (p.Ile1035Val)
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
NM_000138.5(FBN1):c.3122A>G (p.His1041Arg)
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=) rs1566909928
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn) rs749552425
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His) rs2141295243
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr) rs987202268
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser) rs746021219
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3208+5G>A rs1555398657
NM_000138.5(FBN1):c.3208+5G>C rs1555398657
NM_000138.5(FBN1):c.3209-3del rs2141294880
NM_000138.5(FBN1):c.3209-7T>A rs1459153455
NM_000138.5(FBN1):c.3209-7del rs2043526375
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser) rs1555398647
NM_000138.5(FBN1):c.3223C>A (p.Arg1075Ser)
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro) rs369745372
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro) rs2043525655
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg) rs2043525655
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser) rs1555398635
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys) rs2043525387
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
NM_000138.5(FBN1):c.3274G>A (p.Asp1092Asn)
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln) rs1555407429
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg) rs2141293730
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu) rs1555398573
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg) rs2043517357
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
NM_000138.5(FBN1):c.3450C>G (p.Ile1150Met)
NM_000138.5(FBN1):c.3460A>G (p.Ile1154Val)
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe) rs1043235195
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
NM_000138.5(FBN1):c.3464-11T>G
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3494T>C (p.Leu1165Pro)
NM_000138.5(FBN1):c.3500C>A (p.Pro1167His)
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp) rs794728330
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro) rs1555398517
NM_000138.5(FBN1):c.3525A>G (p.Ile1175Met)
NM_000138.5(FBN1):c.3542C>T (p.Ala1181Val)
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
NM_000138.5(FBN1):c.3569C>A (p.Pro1190His)
NM_000138.5(FBN1):c.3569C>G (p.Pro1190Arg)
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln) rs2043514115
NM_000138.5(FBN1):c.3570C>A (p.Pro1190=)
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3589+11TTTTA[7] rs72158035
NM_000138.5(FBN1):c.3589+11TTTTA[8] rs72158035
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3590-7C>A
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val) rs112025387
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile) rs2043498514
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser) rs794728207
NM_000138.5(FBN1):c.361A>G (p.Ile121Val)
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val) rs1597561500
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.3654C>G (p.Ser1218Arg) rs760712674
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg) rs2141291295
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu) rs2043497341
NM_000138.5(FBN1):c.3690G>A (p.Met1230Ile)
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
NM_000138.5(FBN1):c.3709A>G (p.Thr1237Ala) rs1459223225
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His) rs794728208
NM_000138.5(FBN1):c.371T>C (p.Met124Thr)
NM_000138.5(FBN1):c.372G>A (p.Met124Ile) rs1555405050
NM_000138.5(FBN1):c.3740A>G (p.Asn1247Ser)
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr) rs1555398288
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His) rs2141289701
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.3773C>T (p.Pro1258Leu)
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr) rs1555398270
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val) rs747414686
NM_000138.5(FBN1):c.3824T>C (p.Met1275Thr)
NM_000138.5(FBN1):c.382A>C (p.Ser128Arg)
NM_000138.5(FBN1):c.3838+3A>T rs1555398265
NM_000138.5(FBN1):c.3839-15A>C
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val) rs397515796
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn) rs1555398171
NM_000138.5(FBN1):c.3853G>C (p.Asp1285His)
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro) rs2141287453
NM_000138.5(FBN1):c.3878G>A (p.Ser1293Asn)
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val) rs1060501064
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=) rs1018707026
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro) rs2141287376
NM_000138.5(FBN1):c.3905C>T (p.Ser1302Leu)
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
NM_000138.5(FBN1):c.3941A>G (p.Lys1314Arg)
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
NM_000138.5(FBN1):c.3950A>G (p.Lys1317Arg)
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
NM_000138.5(FBN1):c.3964+5G>T rs2043465883
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
NM_000138.5(FBN1):c.3965-5T>A
NM_000138.5(FBN1):c.3966C>G (p.Asp1322Glu)
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro) rs753648789
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile) rs767079851
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg) rs187177496
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp) rs187177496
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg) rs867460746
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val) rs2043402890
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.5(FBN1):c.4107T>A (p.Asn1369Lys)
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
NM_000138.5(FBN1):c.4114C>T (p.His1372Tyr)
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg) rs1555397666
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg) rs1597553861
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn) rs2043402274
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg) rs397515800
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser) rs770860280
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu) rs756683929
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His) rs1555397653
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
NM_000138.5(FBN1):c.4190G>C (p.Gly1397Ala)
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly) rs781045902
NM_000138.5(FBN1):c.4196G>A (p.Gly1399Asp)
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.4210+3A>G rs1457293645
NM_000138.5(FBN1):c.4210+3A>T
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His) rs794728220
NM_000138.5(FBN1):c.4213C>A (p.Leu1405Ile)
NM_000138.5(FBN1):c.4235T>A (p.Leu1412Gln)
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu) rs1555405036
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro) rs2043386032
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg) rs1597552464
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala) rs531751210
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly) rs1258352189
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=) rs1243628683
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu) rs377338217
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4337-5C>A rs370959127
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
NM_000138.5(FBN1):c.4358C>G (p.Pro1453Arg)
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.437G>A (p.Gly146Glu)
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys) rs1555397412
NM_000138.5(FBN1):c.43G>A (p.Val15Met) rs1890262474
NM_000138.5(FBN1):c.43G>C (p.Val15Leu)
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg) rs747815650
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.442+4A>T
NM_000138.5(FBN1):c.4421T>C (p.Ile1474Thr)
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4439G>C (p.Arg1480Thr)
NM_000138.5(FBN1):c.4442G>A (p.Ser1481Asn)
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
NM_000138.5(FBN1):c.4459+3A>C
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly) rs2043341806
NM_000138.5(FBN1):c.4484C>T (p.Thr1495Ile)
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.44T>G (p.Val15Gly) rs2140787791
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala) rs794728224
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=) rs1425634624
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile) rs1555397207
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser) rs1219583611
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu) rs2043340843
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn) rs1288527435
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile)
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile) rs2043340600
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp) rs1597549030
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser) rs995711019
NM_000138.5(FBN1):c.4582+3A>T rs777845323
NM_000138.5(FBN1):c.4582+4del rs2141272841
NM_000138.5(FBN1):c.4582+5G>C rs140633
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
NM_000138.5(FBN1):c.4583-10T>A rs1379865323
NM_000138.5(FBN1):c.4583-12T>G
NM_000138.5(FBN1):c.4583-4A>G
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
NM_000138.5(FBN1):c.4591T>C (p.Ser1531Pro)
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp) rs2043337989
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr) rs757316301
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg) rs2043337860
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=) rs1555397167
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg) rs183306990
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) rs794728229
NM_000138.5(FBN1):c.4652A>T (p.Asn1551Ile)
NM_000138.5(FBN1):c.4661G>A (p.Gly1554Glu)
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu) rs760055928
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr) rs142858432
NM_000138.5(FBN1):c.4678G>C (p.Ala1560Pro)
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe) rs1555397156
NM_000138.5(FBN1):c.4712G>A (p.Gly1571Asp) rs2141272302
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala) rs1597548645
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile) rs2141272271
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
NM_000138.5(FBN1):c.4747+4A>G rs1430326088
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4748-2dup rs2043316552
NM_000138.5(FBN1):c.4748-3T>G rs770762644
NM_000138.5(FBN1):c.4748-4A>G
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
NM_000138.5(FBN1):c.474_476del (p.Arg159del) rs2140711718
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu) rs1555397019
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser) rs1456579664
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr) rs1555397018
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
NM_000138.5(FBN1):c.47T>A (p.Leu16His) rs1555407424
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
NM_000138.5(FBN1):c.4816+4A>G rs2141269898
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn) rs2043315819
NM_000138.5(FBN1):c.4817-14T>G
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
NM_000138.5(FBN1):c.4817-3_4818dup rs2141269780
NM_000138.5(FBN1):c.4822G>A (p.Asp1608Asn)
NM_000138.5(FBN1):c.4823A>T (p.Asp1608Val)
NM_000138.5(FBN1):c.482T>C (p.Val161Ala)
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg) rs2043314733
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn) rs1460284193
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=) rs2043313777
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
NM_000138.5(FBN1):c.4942+14G>A
NM_000138.5(FBN1):c.4942+15T>C
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His) rs397515816
NM_000138.5(FBN1):c.4943-15C>A
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro) rs1060501079
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys) rs886039152
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser) rs1471557498
NM_000138.5(FBN1):c.4999G>C (p.Val1667Leu)
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val) rs759114752
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.5066-3T>C rs2141266776
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser) rs2043293815
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser) rs794728201
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg) rs1566934693
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del) rs2043292746
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
NM_000138.5(FBN1):c.5189A>G (p.Asn1730Ser)
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu) rs2141266510
NM_000138.5(FBN1):c.5215C>T (p.Pro1739Ser)
NM_000138.5(FBN1):c.5224+5G>T
NM_000138.5(FBN1):c.5225-10A>T
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5233G>A (p.Ala1745Thr)
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val) rs2043271430
NM_000138.5(FBN1):c.5239C>A (p.Leu1747Ile)
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr) rs2141264003
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys) rs1597543452
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His) rs2043270903
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
NM_000138.5(FBN1):c.5296+3G>C
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His) rs1555396631
NM_000138.5(FBN1):c.5297-8del
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro) rs1890262148
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp) rs2141260386
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn) rs1303042338
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5380C>G (p.Pro1794Ala)
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5423-17T>G
NM_000138.5(FBN1):c.5423-18G>T
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly) rs2141256144
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
NM_000138.5(FBN1):c.5444G>A (p.Gly1815Asp)
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys) rs2044026912
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val) rs2141256032
NM_000138.5(FBN1):c.5475C>T (p.Ile1825=)
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr) rs1566900504
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys) rs758725993
NM_000138.5(FBN1):c.5521T>C (p.Phe1841Leu)
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile) rs1566900477
NM_000138.5(FBN1):c.5528C>T (p.Ser1843Phe)
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5545+3A>G
NM_000138.5(FBN1):c.5546-3C>G
NM_000138.5(FBN1):c.5549G>T (p.Arg1850Leu)
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser) rs2043179615
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr) rs751472490
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg) rs2141252219
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg) rs776310363
NM_000138.5(FBN1):c.5633C>T (p.Thr1878Ile)
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val) rs1555395977
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser) rs1597535186
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
NM_000138.5(FBN1):c.565G>T (p.Val189Leu) rs2044026712
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile) rs1060501056
NM_000138.5(FBN1):c.5671+6T>A
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5672-4C>G
NM_000138.5(FBN1):c.5672-8C>G rs2141250478
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu) rs760170973
NM_000138.5(FBN1):c.5708G>T (p.Gly1903Val)
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro) rs1555395834
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile) rs1304811982
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu) rs886038785
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser) rs1555395830
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu) rs1555395829
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe) rs1555395827
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser) rs1555395826
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup) rs1597533588
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser) rs867549163
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn) rs1201849394
NM_000138.5(FBN1):c.5772CAA[1] (p.Asn1926del)
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser) rs781395141
NM_000138.5(FBN1):c.5786T>C (p.Ile1929Thr)
NM_000138.5(FBN1):c.5788+36C>A rs1555395814
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+4C>T rs577301285
NM_000138.5(FBN1):c.5788+5G>C
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5789-10T>A rs2141249325
NM_000138.5(FBN1):c.5789-11T>G
NM_000138.5(FBN1):c.5789-13G>A rs777593835
NM_000138.5(FBN1):c.5789-14G>A
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala) rs1329934461
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys) rs2141249307
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly) rs869025409
NM_000138.5(FBN1):c.5809G>A (p.Gly1937Arg)
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu) rs1566898444
NM_000138.5(FBN1):c.5815G>T (p.Gly1939Trp)
NM_000138.5(FBN1):c.5816G>A (p.Gly1939Glu)
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe) rs1555395763
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile) rs1566898433
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp) rs1555395760
NM_000138.5(FBN1):c.5848A>G (p.Thr1950Ala)
NM_000138.5(FBN1):c.5852T>C (p.Val1951Ala)
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His) rs1292712431
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5896C>G (p.Pro1966Ala)
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg) rs768997549
NM_000138.5(FBN1):c.5917+3A>C rs202158568
NM_000138.5(FBN1):c.5917+5G>A rs1555395743
NM_000138.5(FBN1):c.5917+5G>T rs1555395743
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser) rs2141248181
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly) rs1555395665
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.595C>G (p.Leu199Val) rs1221144366
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe) rs1221144366
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His) rs794728243
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu) rs1597531779
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu) rs1484900122
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val) rs1484900122
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro) rs1555395649
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=) rs1597531690
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6038-3T>C rs2043117848
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val) rs869025410
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn) rs1597529929
NM_000138.5(FBN1):c.6053T>C (p.Val2018Ala) rs2043117596
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
NM_000138.5(FBN1):c.6110A>C (p.Lys2037Thr)
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val) rs2043116688
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe) rs1060501046
NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly) rs1597529691
NM_000138.5(FBN1):c.6147T>G (p.Ser2049Arg)
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
NM_000138.5(FBN1):c.6173T>C (p.Met2058Thr)
NM_000138.5(FBN1):c.6181T>A (p.Cys2061Ser)
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser) rs1555395266
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
NM_000138.5(FBN1):c.620C>T (p.Thr207Met)
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
NM_000138.5(FBN1):c.623T>A (p.Leu208His) rs2044025908
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg) rs1064793117
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=) rs2043084739
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
NM_000138.5(FBN1):c.6313+20T>C
NM_000138.5(FBN1):c.6313+5G>C rs878853688
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val)
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys) rs1555395230
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=) rs772876451
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala) rs1555395226
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn) rs769196373
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val) rs1310047239
NM_000138.5(FBN1):c.6362C>A (p.Pro2121His)
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
NM_000138.5(FBN1):c.6379+3C>G rs2043081154
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
NM_000138.5(FBN1):c.6380-83del rs193922222
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala) rs2141240523
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr) rs2141240519
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del) rs1060501037
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu) rs1566896102
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile) rs2043078019
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe) rs113080385
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser) rs2043077718
NM_000138.5(FBN1):c.6461C>T (p.Pro2154Leu)
NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser)
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496+5G>C rs1555395186
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
NM_000138.5(FBN1):c.6497-3C>G rs2141237196
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile) rs1243025749
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
NM_000138.5(FBN1):c.6515T>C (p.Val2172Ala)
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr) rs2043051465
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu) rs2141237135
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser) rs910656654
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val) rs2043050574
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp) rs2141237031
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
NM_000138.5(FBN1):c.660C>A (p.Pro220=)
NM_000138.5(FBN1):c.6616+4C>T
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val) rs1597522584
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala) rs1060501072
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser) rs1407213479
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val) rs2043035646
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro) rs780651466
NM_000138.5(FBN1):c.6659G>T (p.Arg2220Leu)
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu) rs1555394920
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His) rs1555394919
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg) rs2141235108
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del) rs1555394913
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro) rs1555394915
NM_000138.5(FBN1):c.6680C>T (p.Ser2227Leu)
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys) rs1555394908
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.669G>A (p.Met223Ile) rs910928261
NM_000138.5(FBN1):c.6704G>A (p.Gly2235Glu)
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
NM_000138.5(FBN1):c.6732G>C (p.Met2244Ile)
NM_000138.5(FBN1):c.6739+3G>A
NM_000138.5(FBN1):c.6739+4A>G
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser) rs2044025163
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys) rs1597520789
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys) rs1245476075
NM_000138.5(FBN1):c.6769G>A (p.Asp2257Asn)
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys) rs1060501025
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val) rs1566894274
NM_000138.5(FBN1):c.6823A>G (p.Ile2275Val)
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val) rs2043017049
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly) rs1160071679
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu) rs1455580241
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys) rs551736585
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
NM_000138.5(FBN1):c.6868G>A (p.Val2290Ile)
NM_000138.5(FBN1):c.6871+3A>T rs1555394752
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1_6881dup rs2042999380
NM_000138.5(FBN1):c.6872-9A>G rs794728259
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly) rs370283154
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr) rs2141229967
NM_000138.5(FBN1):c.6931C>T (p.Arg2311Cys)
NM_000138.5(FBN1):c.6934G>A (p.Gly2312Arg)
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) rs794728261
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser) rs397515841
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6980A>G (p.Asn2327Ser)
NM_000138.5(FBN1):c.6985G>A (p.Asp2329Asn)
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
NM_000138.5(FBN1):c.6997+5G>A rs2042997205
NM_000138.5(FBN1):c.6997+5G>T rs2042997205
NM_000138.5(FBN1):c.6997+5dup
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.7007A>T (p.Glu2336Val)
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys) rs2141229151
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
NM_000138.5(FBN1):c.7038C>T (p.Asn2346=)
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu) rs1284375434
NM_000138.5(FBN1):c.7041G>A (p.Met2347Ile)
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg) rs1555394576
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7061A>G (p.Asn2354Ser)
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn) rs1259235311
NM_000138.5(FBN1):c.7106G>C (p.Arg2369Thr)
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser) rs2042988137
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg) rs1060501018
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu) rs1295154212
NM_000138.5(FBN1):c.7140C>G (p.Phe2380Leu)
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
NM_000138.5(FBN1):c.7150G>A (p.Val2384Met)
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
NM_000138.5(FBN1):c.7160A>G (p.Lys2387Arg)
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu) rs1566893398
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
NM_000138.5(FBN1):c.716T>G (p.Ile239Ser)
NM_000138.5(FBN1):c.7171C>T (p.Pro2391Ser)
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile) rs2042987428
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile) rs1169351376
NM_000138.5(FBN1):c.7198G>A (p.Gly2400Arg) rs2141228805
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala) rs768993489
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn) rs1555394449
NM_000138.5(FBN1):c.7225A>G (p.Ile2409Val)
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp) rs548057493
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala) rs1060501061
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile) rs1566892910
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val) rs1555394442
NM_000138.5(FBN1):c.7249G>A (p.Glu2417Lys)
NM_000138.5(FBN1):c.7250A>G (p.Glu2417Gly)
NM_000138.5(FBN1):c.7251A>C (p.Glu2417Asp)
NM_000138.5(FBN1):c.7255G>A (p.Val2419Ile)
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser) rs2141226971
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr) rs372369490
NM_000138.5(FBN1):c.7276_7278del (p.His2426del) rs2141226930
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala) rs1266993955
NM_000138.5(FBN1):c.7303C>G (p.Pro2435Ala)
NM_000138.5(FBN1):c.7306G>A (p.Asp2436Asn)
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala) rs2141226842
NM_000138.5(FBN1):c.7330+3A>G rs2042974020
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr) rs1555394434
NM_000138.5(FBN1):c.7334T>C (p.Leu2445Pro)
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del) rs2042971876
NM_000138.5(FBN1):c.7349A>G (p.Gln2450Arg)
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
NM_000138.5(FBN1):c.7352C>T (p.Ala2451Val)
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His) rs2141226433
NM_000138.5(FBN1):c.737-9A>G rs1060501020
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met) rs2042971724
NM_000138.5(FBN1):c.737A>T (p.Asp246Val)
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro) rs371278936
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala) rs371278936
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile) rs2141226387
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys) rs1555394403
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro) rs770839761
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
NM_000138.5(FBN1):c.7475A>G (p.Lys2492Arg)
NM_000138.5(FBN1):c.7480C>T (p.His2494Tyr)
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro) rs2042947403
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.74C>T (p.Ala25Val)
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile) rs749654334
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe) rs1223532755
NM_000138.5(FBN1):c.7514G>A (p.Gly2505Asp)
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
NM_000138.5(FBN1):c.7529A>C (p.Lys2510Thr)
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.7570+3G>A rs771716341
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His) rs2042945976
NM_000138.5(FBN1):c.7571-13C>G
NM_000138.5(FBN1):c.7586C>A (p.Thr2529Asn)
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala) rs2141353825
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys) rs2141221930
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
NM_000138.5(FBN1):c.7630A>G (p.Thr2544Ala)
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser) rs2141221883
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg) rs1555394198
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu) rs2141221864
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
NM_000138.5(FBN1):c.7658A>T (p.Gln2553Leu)
NM_000138.5(FBN1):c.7675G>A (p.Asp2559Asn)
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys) rs2042941564
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7700-10T>G
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly) rs2141220859
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys) rs2141220835
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup) rs2141220752
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser) rs2042934435
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met) rs2042934389
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7793A>C (p.Gln2598Pro)
NM_000138.5(FBN1):c.7797C>G (p.His2599Gln)
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys) rs2141220639
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His) rs2141220609
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819+5G>T
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr) rs1597512576
NM_000138.5(FBN1):c.7820-3C>G rs193922237
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
NM_000138.5(FBN1):c.7825A>G (p.Asn2609Asp)
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp) rs1597509823
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7841C>G (p.Ala2614Gly)
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp) rs2042899271
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu) rs113926846
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val) rs1555393875
NM_000138.5(FBN1):c.7883G>A (p.Ser2628Asn)
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His) rs1597509725
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.796G>T (p.Val266Phe)
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala) rs1555393851
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn) rs2141214726
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys) rs2042896586
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe) rs2042896586
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe) rs794728339
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
NM_000138.5(FBN1):c.802T>G (p.Ser268Ala)
NM_000138.5(FBN1):c.8037C>G (p.Phe2679Leu)
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
NM_000138.5(FBN1):c.8051+3_8051+9del rs2141214499
NM_000138.5(FBN1):c.8052-12C>A
NM_000138.5(FBN1):c.8052-6_8052-3del rs2141211838
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys) rs747476726
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr) rs747476726
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
NM_000138.5(FBN1):c.8075T>C (p.Met2692Thr)
NM_000138.5(FBN1):c.807T>A (p.Phe269Leu)
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg) rs1555393663
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln) rs2043994842
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu) rs886038782
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile) rs753925682
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe) rs1342786403
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro) rs1297376845
NM_000138.5(FBN1):c.8134C>T (p.Pro2712Ser)
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys) rs2141211697
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr) rs766170041
NM_000138.5(FBN1):c.8140G>C (p.Ala2714Pro)
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr) rs1597507716
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser) rs1597507716
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp) rs2042872481
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn) rs2042872305
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
NM_000138.5(FBN1):c.8203G>C (p.Glu2735Gln)
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp) rs2042871947
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met) rs150065311
NM_000138.5(FBN1):c.8226+5G>T rs193922243
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp) rs1060501045
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr) rs1345051744
NM_000138.5(FBN1):c.823G>C (p.Ala275Pro)
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser) rs763816801
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn) rs2042861973
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser) rs397515861
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly) rs1060501088
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val) rs1060501088
NM_000138.5(FBN1):c.8279A>T (p.Lys2760Met)
NM_000138.5(FBN1):c.827G>A (p.Gly276Glu)
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp) rs1555407418
NM_000138.5(FBN1):c.8303T>C (p.Ile2768Thr)
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs) rs1555393560
NM_000138.5(FBN1):c.831C>A (p.His277Gln)
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn) rs1555393556
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr) rs1555393556
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
NM_000138.5(FBN1):c.8337A>C (p.Glu2779Asp)
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro) rs2141209966
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg)
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His) rs2042859991
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg) rs1271078955
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
NM_000138.5(FBN1):c.8372A>G (p.Asn2791Ser)
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn) rs2042859661
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu) rs1060501049
NM_000138.5(FBN1):c.8396del (p.Asn2799fs) rs1555393540
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) rs770484928
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn) rs2141209854
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
NM_000138.5(FBN1):c.8428del (p.Glu2810fs) rs1555393535
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu) rs2042858918
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr) rs2042858844
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys) rs2042858812
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp) rs772218768
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp) rs1060501084
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser) rs748384979
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe) rs1555393524
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser) rs1555393523
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) rs1284038548
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His) rs2141209638
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys) rs587782948
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys) rs1555393508
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln) rs1555393508
NM_000138.5(FBN1):c.8542A>G (p.Lys2848Glu)
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg) rs765839151
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn) rs2042856933
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly) rs773653099
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
NM_000138.5(FBN1):c.8564G>T (p.Ser2855Ile)
NM_000138.5(FBN1):c.8575G>A (p.Gly2859Ser)
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) rs747213800
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn) rs1597506544
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly) rs1555401454
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln) rs149929989
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala) rs142888621
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
NM_000138.5(FBN1):c.905G>T (p.Gly302Val) rs779866501
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.920C>G (p.Thr307Arg)
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp) rs1555401007
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr) rs756687172
NM_000138.5(FBN1):c.946C>T (p.Pro316Ser)
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
NM_000138.5(FBN1):c.947C>T (p.Pro316Leu)
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu) rs2140787667
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile) rs2043911873
NM_000138.5(FBN1):c.974G>C (p.Gly325Ala)
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453
NM_000138.5(FBN1):c.989-10T>A
NM_000138.5(FBN1):c.989-16_989-15del
NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser) rs2140787661
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu) rs748929044
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) rs771495510
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile) rs2108797719
NM_000142.5(FGFR3):c.811G>A (p.Val271Met) rs1445397378
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.3(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000243.3(MEFV):c.*169C>T rs558576646
NM_000243.3(MEFV):c.*190G>C rs114930858
NM_000243.3(MEFV):c.*292C>G rs560496227
NM_000243.3(MEFV):c.*394C>T rs1017341912
NM_000243.3(MEFV):c.*761C>G rs281865551
NM_000243.3(MEFV):c.*779del rs60407399
NM_000243.3(MEFV):c.*818A>C rs886051965
NM_000243.3(MEFV):c.*959T>C rs896051894
NM_000243.3(MEFV):c.*9C>G rs11466048
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1004C>A (p.Pro335His)
NM_000243.3(MEFV):c.1005C>T (p.Pro335=) rs567739580
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg) rs1959002154
NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu)
NM_000243.3(MEFV):c.1029G>T (p.Gln343His) rs1959001872
NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser)
NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu)
NM_000243.3(MEFV):c.1075C>A (p.His359Asn) rs2141671836
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.10A>G (p.Thr4Ala)
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1108dup (p.Gln370fs) rs1214124340
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) rs1218172738
NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg) rs1009404209
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu)
NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter)
NM_000243.3(MEFV):c.1143G>C (p.Gln381His)
NM_000243.3(MEFV):c.1151T>A (p.Leu384Gln) rs139313647
NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys)
NM_000243.3(MEFV):c.1212C>A (p.His404Gln) rs561866815
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1255C>A (p.His419Asn) rs2141671598
NM_000243.3(MEFV):c.1261-10G>C rs767528614
NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg) rs1958989238
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser)
NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp)
NM_000243.3(MEFV):c.1297C>G (p.Leu433Val) rs1596354307
NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs) rs2141671176
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln) rs1958988591
NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs)
NM_000243.3(MEFV):c.130C>T (p.Gln44Ter) rs1172820862
NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn)
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr)
NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp)
NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro)
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser)
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)
NM_000243.3(MEFV):c.1429G>A (p.Glu477Lys) rs752413551
NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp)
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1441G>T (p.Val481Leu) rs1487427766
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) rs1596352746
NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter) rs1958954245
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr) rs2141669073
NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)
NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu) rs224206
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr) rs2141668949
NM_000243.3(MEFV):c.1587+5G>A rs1555458661
NM_000243.3(MEFV):c.1587+5G>T rs1555458661
NM_000243.3(MEFV):c.1588-2A>G
NM_000243.3(MEFV):c.1610+5_1610+6insACCT
NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs) rs1958911254
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)
NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)
NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala) rs2141666419
NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu)
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro) rs1958910539
NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn) rs1567232255
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) rs1033941048
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) rs1057516210
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile) rs1057516210
NM_000243.3(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.1759+1G>T rs876660996
NM_000243.3(MEFV):c.1760-1G>T
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.1793-2A>C rs2141665238
NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn) rs768043268
NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys)
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) rs1332372034
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) rs766576175
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) rs967990798
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro) rs2141665051
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu) rs2141665045
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val) rs2141665039
NM_000243.3(MEFV):c.1955G>A (p.Arg652His)
NM_000243.3(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) rs375716505
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.1969G>A (p.Val657Met) rs1958892149
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)
NM_000243.3(MEFV):c.196G>A (p.Ala66Thr)
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val) rs2141664988
NM_000243.3(MEFV):c.1A>C (p.Met1Leu)
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val) rs1958891209
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg) rs771759703
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp) rs375378545
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2068G>A (p.Val690Met)
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) rs1281153557
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val) rs1596350035
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) rs1596350022
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.3(MEFV):c.2089A>C (p.Asn697His)
NM_000243.3(MEFV):c.209C>G (p.Thr70Ser) rs775224100
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) rs1596349932
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val) rs1023300125
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu) rs104895201
NM_000243.3(MEFV):c.2177T>G (p.Val726Gly)
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.2194T>C (p.Tyr732His)
NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile) rs1958885115
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr) rs61732874
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro) rs61732874
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly) rs1407457811
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr) rs104895171
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) rs774807554
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) rs2141664466
NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala) rs1479429941
NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)
NM_000243.3(MEFV):c.2330dup (p.Gln778fs) rs1596349724
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter) rs1366885918
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg) rs2141664404
NM_000243.3(MEFV):c.243G>A (p.Leu81=) rs1959114665
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.252G>C (p.Glu84Asp)
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.261del (p.His87fs) rs1959114310
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.268_271del (p.Ala90fs)
NM_000243.3(MEFV):c.277+1G>A
NM_000243.3(MEFV):c.277+1G>T rs1328913013
NM_000243.3(MEFV):c.277+4A>C
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro) rs1463263180
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.334G>A (p.Glu112Lys) rs1185925415
NM_000243.3(MEFV):c.340A>C (p.Lys114Gln) rs1252844849
NM_000243.3(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.343C>T (p.Pro115Ser)
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) rs1000657059
NM_000243.3(MEFV):c.35C>T (p.Thr12Ile)
NM_000243.3(MEFV):c.367C>G (p.His123Asp) rs1959090836
NM_000243.3(MEFV):c.368A>T (p.His123Leu) rs774737550
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.377G>A (p.Gly126Glu)
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.380A>G (p.Asn127Ser) rs1471371733
NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)
NM_000243.3(MEFV):c.383A>T (p.Glu128Val) rs201172310
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg) rs1344302872
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys) rs780976880
NM_000243.3(MEFV):c.390C>T (p.Asn130=) rs780976880
NM_000243.3(MEFV):c.392G>A (p.Gly131Asp) rs1959090165
NM_000243.3(MEFV):c.397C>A (p.Arg133=) rs1206762845
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu) rs1959090017
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) rs766323718
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.409G>A (p.Gly137Ser) rs895839095
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.411_412insT (p.Gly138fs) rs758874425
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser) rs1567237666
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.433A>C (p.Ser145Arg) rs2141677519
NM_000243.3(MEFV):c.434G>C (p.Ser145Thr) rs1342434040
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.442G>A (p.Glu148Lys) rs3743930
NM_000243.3(MEFV):c.450del (p.Arg151fs) rs2141677468
NM_000243.3(MEFV):c.451A>T (p.Arg151Trp)
NM_000243.3(MEFV):c.454G>C (p.Gly152Arg) rs1266119651
NM_000243.3(MEFV):c.455G>C (p.Gly152Ala)
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.3(MEFV):c.481C>G (p.Arg161Gly)
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.490A>T (p.Lys164Ter) rs1306636942
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.523C>T (p.Pro175Ser)
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln) rs104895134
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.547C>T (p.Pro183Ser)
NM_000243.3(MEFV):c.548C>G (p.Pro183Arg)
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.564C>G (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.568C>T (p.Pro190Ser) rs1959085571
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr) rs876660994
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.586G>A (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.587G>C (p.Gly196Ala)
NM_000243.3(MEFV):c.597dup (p.Glu200fs) rs1567237352
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly) rs200148051
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.611G>T (p.Arg204Leu) rs775663363
NM_000243.3(MEFV):c.619G>T (p.Ala207Ser) rs1386104492
NM_000243.3(MEFV):c.61T>C (p.Phe21Leu)
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.629C>G (p.Ala210Gly)
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
NM_000243.3(MEFV):c.63C>A (p.Phe21Leu)
NM_000243.3(MEFV):c.656dup (p.Ala220fs) rs774061491
NM_000243.3(MEFV):c.65del (p.Glu22fs) rs747811800
NM_000243.3(MEFV):c.664G>C (p.Gly222Arg) rs772938936
NM_000243.3(MEFV):c.682C>T (p.Pro228Ser) rs1596358139
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
NM_000243.3(MEFV):c.686T>G (p.Phe229Cys) rs1959082299
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.688G>T (p.Glu230Ter) rs104895080
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn) rs1053594972
NM_000243.3(MEFV):c.718C>G (p.Pro240Ala)
NM_000243.3(MEFV):c.718C>T (p.Pro240Ser) rs1310144955
NM_000243.3(MEFV):c.721A>G (p.Arg241Gly)
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_000243.3(MEFV):c.739A>G (p.Ile247Val) rs1472692347
NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser) rs2141676883
NM_000243.3(MEFV):c.749G>C (p.Gly250Ala)
NM_000243.3(MEFV):c.74A>G (p.Lys25Arg)
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
NM_000243.3(MEFV):c.778C>A (p.Leu260Ile)
NM_000243.3(MEFV):c.790G>A (p.Glu264Lys) rs1332262848
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.803C>A (p.Ala268Asp) rs104895123
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro) rs104895187
NM_000243.3(MEFV):c.836C>T (p.Ala279Val) rs1596357961
NM_000243.3(MEFV):c.847C>G (p.Pro283Ala)
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.854G>C (p.Gly285Ala)
NM_000243.3(MEFV):c.857G>C (p.Gly286Ala) rs1959078224
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)
NM_000243.3(MEFV):c.881G>T (p.Gly294Val) rs1959077891
NM_000243.3(MEFV):c.884dup (p.Gly296fs) rs1301893365
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.3(MEFV):c.908C>T (p.Thr303Ile)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477
NM_000243.3(MEFV):c.911-8G>A rs2141672126
NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)
NM_000243.3(MEFV):c.916C>T (p.Pro306Ser) rs906390314
NM_000243.3(MEFV):c.920C>G (p.Pro307Arg) rs1396233356
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His) rs1085307824
NM_000243.3(MEFV):c.943T>C (p.Cys315Arg)
NM_000243.3(MEFV):c.949G>A (p.Ala317Thr)
NM_000243.3(MEFV):c.94A>T (p.Ser32Cys) rs1959117976
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu) rs771969495
NM_000243.3(MEFV):c.965C>G (p.Pro322Arg)
NM_000243.3(MEFV):c.967G>C (p.Val323Leu)
NM_000243.3(MEFV):c.973G>C (p.Gly325Arg) rs146862274
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000288.4(PEX7):c.236A>G (p.Asn79Ser) rs2115131862
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr) rs2100756894
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu) rs2100757756
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala) rs1645800221
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe) rs1445338657
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val) rs1645803161
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro) rs2100758364
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val) rs2100758386
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg) rs1156431423
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-14C>T rs2100759144
NM_000302.4(PLOD1):c.1471-9C>A rs376476977
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn) rs1283020139
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly) rs2100759169
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1511_1513del (p.His504del) rs2100759209
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu) rs1429074293
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys) rs758701213
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser) rs1324129456
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe) rs377325169
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys) rs761949919
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val) rs753862253
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr) rs1645823972
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp) rs1331435501
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1756-20T>G rs1310114003
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro) rs2100764621
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala) rs138106022
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln) rs768638113
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala) rs920188548
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp) rs1645857603
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1902+3G>A rs1645857795
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys) rs1010336383
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser) rs2100768765
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn) rs1645891475
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His) rs1645892067
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu) rs2100743367
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val) rs2100743381
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.2164del (p.Val722fs) rs1645892679
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu) rs151247380
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val) rs1348207190
NM_000302.4(PLOD1):c.262C>G (p.His88Asp) rs1645686634
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
NM_000302.4(PLOD1):c.302+3_302+6del rs2100743549
NM_000302.4(PLOD1):c.302+5G>C rs749607584
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.369G>C (p.Gln123His) rs1645691361
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile) rs984869224
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu) rs144702307
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.466+65C>A
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn) rs188165334
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg) rs2100746537
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp) rs1645711960
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+3A>C rs1645712158
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu) rs1645566854
NM_000302.4(PLOD1):c.644-19T>C
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn) rs1645742510
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu) rs1438879558
NM_000302.4(PLOD1):c.723T>G (p.His241Gln) rs2100750549
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val) rs2100751390
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn) rs2100751465
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser) rs2100741705
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.844-3C>G rs2100752095
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp) rs1394486748
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu) rs143114026
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
NM_000302.4(PLOD1):c.951C>G (p.His317Gln) rs770032875
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.976-7_976-2dup
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000316.3(PTH1R):c.830G>T (p.Gly277Val) rs757961321
NM_000316.3(PTH1R):c.834+14_834+46del rs768888196
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000346.4(SOX9):c.1095_1115del (p.364AAPPQQP[1]) rs765759003
NM_000346.4(SOX9):c.320G>A (p.Arg107Gln) rs2143239870
NM_000346.4(SOX9):c.432-3C>A rs1033320617
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000428.3(LTBP2):c.4720+7G>A rs137854885
NM_000431.4(MVK):c.*125G>T rs541159703
NM_000431.4(MVK):c.*308G>A rs886048935
NM_000431.4(MVK):c.*566G>C rs1473857064
NM_000431.4(MVK):c.*571G>A rs548094591
NM_000431.4(MVK):c.1014C>G (p.Gly338=)
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala)
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)
NM_000431.4(MVK):c.1040-6_1040-5inv
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln)
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala)
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) rs879219256
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) rs104895342
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) rs1885916592
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp)
NM_000431.4(MVK):c.1078C>G (p.Leu360Val) rs2136257244
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) rs1189179026
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.125A>C (p.Gln42Pro)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
NM_000431.4(MVK):c.186G>C (p.Trp62Cys) rs2136218862
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) rs1884939365
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) rs2136224465
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) rs1885131607
NM_000431.4(MVK):c.288C>T (p.Gly96=) rs2136224524
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.349C>G (p.Leu117Val) rs374204972
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) rs978964462
NM_000431.4(MVK):c.36G>T (p.Gly12=) rs1884860868
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+4T>C rs1885141606
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
NM_000431.4(MVK):c.451G>T (p.Val151Leu) rs1885215026
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis) rs1885218525
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.520G>A (p.Val174Ile) rs369227329
NM_000431.4(MVK):c.520G>T (p.Val174Phe)
NM_000431.4(MVK):c.528-10_528-7del
NM_000431.4(MVK):c.528-3C>T
NM_000431.4(MVK):c.533C>T (p.Thr178Ile)
NM_000431.4(MVK):c.577G>A (p.Glu193Lys)
NM_000431.4(MVK):c.581G>T (p.Arg194Ile)
NM_000431.4(MVK):c.592G>A (p.Gly198Arg) rs202172198
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_000431.4(MVK):c.631+3A>T
NM_000431.4(MVK):c.632-19_632-18inv
NM_000431.4(MVK):c.632-3T>A rs2136238080
NM_000431.4(MVK):c.632-3del rs1885451714
NM_000431.4(MVK):c.641T>A (p.Leu214His)
NM_000431.4(MVK):c.647A>T (p.Tyr216Phe) rs2136238117
NM_000431.4(MVK):c.64G>C (p.Val22Leu) rs1217259118
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) rs2136238122
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
NM_000431.4(MVK):c.677+5C>A
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
NM_000431.4(MVK):c.678-3C>A rs1885632836
NM_000431.4(MVK):c.67G>A (p.Val23Ile) rs2136216776
NM_000431.4(MVK):c.680C>G (p.Ser227Trp)
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.71A>G (p.His24Arg)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) rs1885636019
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) rs1885638229
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) rs1885663402
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) rs1386402188
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
NM_000431.4(MVK):c.809C>A (p.Ala270Asp) rs866006959
NM_000431.4(MVK):c.80T>G (p.Val27Gly) rs770136482
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.843G>T (p.Glu281Asp) rs758317084
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) rs1406107674
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu) rs1405393607
NM_000435.3(NOTCH3):c.5114+11T>G rs2046721049
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000546.6(TP53):c.-29+4907G>T
NM_000546.6(TP53):c.-29+4908G>C
NM_000546.6(TP53):c.-29+4914G>T
NM_000546.6(TP53):c.-29+4915del
NM_000546.6(TP53):c.-29+4952G>C
NM_000546.6(TP53):c.-29+5027A>T
NM_000546.6(TP53):c.-29+5029A>G
NM_000546.6(TP53):c.-29+5139C>A
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.993+13G>A rs369599972
NM_000546.6(TP53):c.993+44C>A
NM_000546.6(TP53):c.993+86del
NM_000628.5(IL10RB):c.*17A>G rs886057003
NM_000628.5(IL10RB):c.*20C>T rs886057004
NM_000628.5(IL10RB):c.*796T>C rs886057010
NM_000628.5(IL10RB):c.-66A>T rs1025835868
NM_000628.5(IL10RB):c.-94C>A rs556338583
NM_000628.5(IL10RB):c.107A>C (p.Asn36Thr) rs2123561113
NM_000628.5(IL10RB):c.116A>G (p.Gln39Arg)
NM_000628.5(IL10RB):c.157A>C (p.Thr53Pro) rs1989015732
NM_000628.5(IL10RB):c.179G>C (p.Arg60Thr)
NM_000628.5(IL10RB):c.194A>G (p.Lys65Arg) rs1269352420
NM_000628.5(IL10RB):c.1A>C (p.Met1Leu) rs1266638189
NM_000628.5(IL10RB):c.1A>T (p.Met1Leu)
NM_000628.5(IL10RB):c.203A>T (p.Asn68Ile)
NM_000628.5(IL10RB):c.20G>A (p.Ser7Asn) rs1042356155
NM_000628.5(IL10RB):c.274G>C (p.Glu92Gln) rs2123573879
NM_000628.5(IL10RB):c.284A>T (p.Asp95Val)
NM_000628.5(IL10RB):c.298T>G (p.Trp100Gly) rs868604197
NM_000628.5(IL10RB):c.29G>C (p.Gly10Ala)
NM_000628.5(IL10RB):c.301G>C (p.Val101Leu)
NM_000628.5(IL10RB):c.302T>C (p.Val101Ala) rs2123573917
NM_000628.5(IL10RB):c.331+4A>T
NM_000628.5(IL10RB):c.332-11C>T rs531765635
NM_000628.5(IL10RB):c.332C>G (p.Thr111Ser) rs769595310
NM_000628.5(IL10RB):c.343C>A (p.Pro115Thr)
NM_000628.5(IL10RB):c.35G>A (p.Cys12Tyr) rs1988945494
NM_000628.5(IL10RB):c.367C>T (p.Leu123Phe) rs1989246173
NM_000628.5(IL10RB):c.377C>T (p.Ser126Phe)
NM_000628.5(IL10RB):c.383A>T (p.His128Leu)
NM_000628.5(IL10RB):c.386T>G (p.Met129Arg) rs759321517
NM_000628.5(IL10RB):c.435G>A (p.Met145Ile)
NM_000628.5(IL10RB):c.466G>A (p.Val156Met)
NM_000628.5(IL10RB):c.498G>A (p.Lys166=)
NM_000628.5(IL10RB):c.498G>C (p.Lys166Asn) rs1989249790
NM_000628.5(IL10RB):c.511C>A (p.Pro171Thr) rs752902509
NM_000628.5(IL10RB):c.511C>T (p.Pro171Ser)
NM_000628.5(IL10RB):c.537A>C (p.Arg179Ser) rs1989309241
NM_000628.5(IL10RB):c.568C>G (p.Gln190Glu)
NM_000628.5(IL10RB):c.584T>C (p.Leu195Pro)
NM_000628.5(IL10RB):c.598A>G (p.Lys200Glu)
NM_000628.5(IL10RB):c.5C>T (p.Ala2Val)
NM_000628.5(IL10RB):c.60G>A (p.Met20Ile)
NM_000628.5(IL10RB):c.612G>T (p.Trp204Cys)
NM_000628.5(IL10RB):c.641A>C (p.His214Pro) rs949664612
NM_000628.5(IL10RB):c.647-3C>T rs1989409135
NM_000628.5(IL10RB):c.651G>A (p.Thr217=)
NM_000628.5(IL10RB):c.652G>A (p.Val218Ile) rs776085475
NM_000628.5(IL10RB):c.680T>A (p.Leu227His)
NM_000628.5(IL10RB):c.682A>T (p.Met228Leu) rs376920653
NM_000628.5(IL10RB):c.691G>A (p.Val231Ile)
NM_000628.5(IL10RB):c.715C>A (p.Leu239Ile) rs1601835501
NM_000628.5(IL10RB):c.727G>A (p.Ala243Thr) rs1058861
NM_000628.5(IL10RB):c.738G>T (p.Trp246Cys) rs368740217
NM_000628.5(IL10RB):c.785T>G (p.Leu262Arg) rs1989413733
NM_000628.5(IL10RB):c.787C>G (p.Pro263Ala)
NM_000628.5(IL10RB):c.791A>G (p.Gln264Arg)
NM_000628.5(IL10RB):c.79G>C (p.Val27Leu) rs1989013782
NM_000628.5(IL10RB):c.800_801del (p.Lys267fs) rs1989414348
NM_000628.5(IL10RB):c.823C>T (p.His275Tyr)
NM_000628.5(IL10RB):c.830C>T (p.Thr277Ile) rs756566292
NM_000628.5(IL10RB):c.832del (p.Leu278fs) rs1601839547
NM_000628.5(IL10RB):c.833T>C (p.Leu278Pro)
NM_000628.5(IL10RB):c.833T>G (p.Leu278Arg) rs781553501
NM_000628.5(IL10RB):c.839T>C (p.Phe280Ser) rs2082965278
NM_000628.5(IL10RB):c.841T>G (p.Phe281Val) rs2082965287
NM_000628.5(IL10RB):c.857C>T (p.Ser286Leu) rs771890796
NM_000628.5(IL10RB):c.85A>G (p.Met29Val) rs975065416
NM_000628.5(IL10RB):c.862G>A (p.Glu288Lys) rs2082965441
NM_000628.5(IL10RB):c.863A>T (p.Glu288Val)
NM_000628.5(IL10RB):c.871G>A (p.Val291Ile) rs2082965493
NM_000628.5(IL10RB):c.917A>G (p.Lys306Arg) rs2082965718
NM_000628.5(IL10RB):c.91T>A (p.Ser31Thr) rs1989013997
NM_000628.5(IL10RB):c.933C>A (p.Asp311Glu) rs2082965805
NM_000628.5(IL10RB):c.949A>T (p.Thr317Ser) rs1601839637
NM_000628.5(IL10RB):c.962_967del (p.Gln321_Gly322del) rs2082965983
NM_000628.5(IL10RB):c.970C>T (p.Gln324Ter) rs2082966126
NM_000628.5(IL10RB):c.971A>G (p.Gln324Arg)
NM_001011658.4(TRAPPC2):c.*263dup rs1057515794
NM_001011658.4(TRAPPC2):c.*266_*267insT rs1057515793
NM_001011658.4(TRAPPC2):c.*950_*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT rs1057515790
NM_001011658.4(TRAPPC2):c.-161-2A>C rs2146894247
NM_001032283.3(TMPO):c.117G>C (p.Gln39His) rs1285673694
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg) rs776416936
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu) rs746863579
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly) rs1875778307
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys) rs1555201635
NM_001032283.3(TMPO):c.279+4A>C rs1875782829
NM_001032283.3(TMPO):c.279G>A (p.Arg93=) rs759987514
NM_001032283.3(TMPO):c.280-11T>G
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val) rs904567500
NM_001032283.3(TMPO):c.373G>A (p.Val125Met) rs1325674217
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys) rs1259294108
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu) rs886049910
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe) rs745442874
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg) rs2121195483
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro) rs770948908
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu) rs1877210566
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg) rs2121195897
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly) rs2121093002
NM_001032283.3(TMPO):c.565+1005A>G
NM_001032283.3(TMPO):c.565+1017A>G
NM_001032283.3(TMPO):c.565+1018C>G
NM_001032283.3(TMPO):c.565+1026A>G rs1447801243
NM_001032283.3(TMPO):c.565+1033C>T rs747066370
NM_001032283.3(TMPO):c.565+1048G>A rs1877293542
NM_001032283.3(TMPO):c.565+1048G>C
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
NM_001032283.3(TMPO):c.565+1069G>A
NM_001032283.3(TMPO):c.565+1108G>A
NM_001032283.3(TMPO):c.565+1114C>T rs754944353
NM_001032283.3(TMPO):c.565+1120G>C
NM_001032283.3(TMPO):c.565+1128G>T
NM_001032283.3(TMPO):c.565+1161A>G rs2121202826
NM_001032283.3(TMPO):c.565+1168A>T rs370585407
NM_001032283.3(TMPO):c.565+1179G>T
NM_001032283.3(TMPO):c.565+1257T>C rs1877309895
NM_001032283.3(TMPO):c.565+1260A>C rs779869644
NM_001032283.3(TMPO):c.565+1272del
NM_001032283.3(TMPO):c.565+1273A>G rs146158243
NM_001032283.3(TMPO):c.565+1279G>A
NM_001032283.3(TMPO):c.565+1302T>C
NM_001032283.3(TMPO):c.565+1312C>G
NM_001032283.3(TMPO):c.565+1320A>C rs747613142
NM_001032283.3(TMPO):c.565+1361T>G rs185083543
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA rs755623404
NM_001032283.3(TMPO):c.565+1372C>T
NM_001032283.3(TMPO):c.565+1374A>C rs760685984
NM_001032283.3(TMPO):c.565+1378G>A
NM_001032283.3(TMPO):c.565+1420A>G
NM_001032283.3(TMPO):c.565+1439A>C rs1877327751
NM_001032283.3(TMPO):c.565+1467C>G rs200124801
NM_001032283.3(TMPO):c.565+1467C>T rs200124801
NM_001032283.3(TMPO):c.565+1474C>T
NM_001032283.3(TMPO):c.565+1474CT[2] rs1359210478
NM_001032283.3(TMPO):c.565+1508_565+1509del
NM_001032283.3(TMPO):c.565+1536_565+1543del
NM_001032283.3(TMPO):c.565+1548A>G rs779658294
NM_001032283.3(TMPO):c.565+1575G>A rs1060502980
NM_001032283.3(TMPO):c.565+1584G>A rs147002330
NM_001032283.3(TMPO):c.565+1584G>C rs147002330
NM_001032283.3(TMPO):c.565+1584G>T
NM_001032283.3(TMPO):c.565+1587G>A
NM_001032283.3(TMPO):c.565+1590G>A
NM_001032283.3(TMPO):c.565+1595T>G
NM_001032283.3(TMPO):c.565+1609C>G
NM_001032283.3(TMPO):c.565+1611A>C
NM_001032283.3(TMPO):c.565+1633T>C
NM_001032283.3(TMPO):c.565+1643A>G
NM_001032283.3(TMPO):c.565+1692C>A rs879040481
NM_001032283.3(TMPO):c.565+1692C>T rs879040481
NM_001032283.3(TMPO):c.565+1708C>T
NM_001032283.3(TMPO):c.565+1724G>C
NM_001032283.3(TMPO):c.565+1725T>A
NM_001032283.3(TMPO):c.565+1774C>G rs762576951
NM_001032283.3(TMPO):c.565+1782G>A rs763388598
NM_001032283.3(TMPO):c.565+1790G>A
NM_001032283.3(TMPO):c.565+1795C>A rs1877361719
NM_001032283.3(TMPO):c.565+1807C>G
NM_001032283.3(TMPO):c.565+1813TC[2] rs1877364478
NM_001032283.3(TMPO):c.565+1872A>G rs1060502979
NM_001032283.3(TMPO):c.565+1873T>C rs1238424266
NM_001032283.3(TMPO):c.565+1878G>A rs1877372287
NM_001032283.3(TMPO):c.565+1905G>T rs2121207714
NM_001032283.3(TMPO):c.565+1928del rs1442448525
NM_001032283.3(TMPO):c.565+1932G>A
NM_001032283.3(TMPO):c.565+1935T>C
NM_001032283.3(TMPO):c.565+1983del
NM_001032283.3(TMPO):c.565+1995G>A
NM_001032283.3(TMPO):c.565+2002C>T rs2121208214
NM_001032283.3(TMPO):c.565+2014C>G rs2121208283
NM_001032283.3(TMPO):c.565+2019C>A rs764610443
NM_001032283.3(TMPO):c.565+2022A>G
NM_001032283.3(TMPO):c.565+2026T>C rs1555203926
NM_001032283.3(TMPO):c.565+2029A>G
NM_001032283.3(TMPO):c.565+2044G>T
NM_001032283.3(TMPO):c.565+2058G>T
NM_001032283.3(TMPO):c.565+2067C>G rs745484180
NM_001032283.3(TMPO):c.565+2085G>A
NM_001032283.3(TMPO):c.565+2101G>A rs774064196
NM_001032283.3(TMPO):c.565+2101G>T
NM_001032283.3(TMPO):c.565+2102C>A rs764177808
NM_001032283.3(TMPO):c.565+2128G>A
NM_001032283.3(TMPO):c.565+2169A>G
NM_001032283.3(TMPO):c.565+2170C>G
NM_001032283.3(TMPO):c.565+2170C>T
NM_001032283.3(TMPO):c.565+2172C>T rs1565812072
NM_001032283.3(TMPO):c.565+2173A>T
NM_001032283.3(TMPO):c.565+2175A>G rs1877399544
NM_001032283.3(TMPO):c.565+2175_565+2176del
NM_001032283.3(TMPO):c.565+2179C>T
NM_001032283.3(TMPO):c.565+2197T>C rs1877401842
NM_001032283.3(TMPO):c.565+2220G>A
NM_001032283.3(TMPO):c.565+2229C>G
NM_001032283.3(TMPO):c.565+2247C>G rs369379490
NM_001032283.3(TMPO):c.565+2251C>T
NM_001032283.3(TMPO):c.565+2280A>G rs1877412049
NM_001032283.3(TMPO):c.565+2281C>T rs1877412433
NM_001032283.3(TMPO):c.565+2284_565+2285del rs767209319
NM_001032283.3(TMPO):c.565+2292G>A
NM_001032283.3(TMPO):c.565+2299A>G rs766232053
NM_001032283.3(TMPO):c.565+2340C>G rs1877418406
NM_001032283.3(TMPO):c.565+2340C>T
NM_001032283.3(TMPO):c.565+2346A>G rs1565812255
NM_001032283.3(TMPO):c.565+2353A>G rs1335078305
NM_001032283.3(TMPO):c.565+2362T>C
NM_001032283.3(TMPO):c.565+2367C>G
NM_001032283.3(TMPO):c.565+2369_565+2371del rs755715445
NM_001032283.3(TMPO):c.565+2381G>C rs1877422962
NM_001032283.3(TMPO):c.565+2397A>T
NM_001032283.3(TMPO):c.565+2412A>T
NM_001032283.3(TMPO):c.565+2425C>T rs1268085556
NM_001032283.3(TMPO):c.565+2460G>A
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.565+2472A>C rs1877431244
NM_001032283.3(TMPO):c.565+2474A>C rs2121211551
NM_001032283.3(TMPO):c.565+2481A>G
NM_001032283.3(TMPO):c.565+995A>C
NM_001032283.3(TMPO):c.565+995_565+998del rs747695132
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu) rs2066621372
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.1722-13T>G
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg) rs2066993430
NM_001042492.3(NF1):c.2001+5G>T rs2144028091
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
NM_001042492.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
NM_001042492.3(NF1):c.2410-5T>A rs2151428754
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu) rs1555614266
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
NM_001042492.3(NF1):c.2851-3del rs876660379
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_001042492.3(NF1):c.288+6T>A
NM_001042492.3(NF1):c.289-6T>C rs757074803
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys) rs1555614496
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile) rs2151431668
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr) rs1367746167
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly) rs137854562
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly) rs1060500310
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr) rs2067662991
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro) rs876660162
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.480-2746A>G
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
NM_001042492.3(NF1):c.5812+489C>G
NM_001042492.3(NF1):c.5813-1042A>G
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val) rs775480099
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe) rs1567617669
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val) rs1044698498
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu) rs1597847958
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys) rs2069794814
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val) rs1022562410
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=) rs2069867490
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser) rs876658722
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr) rs1555536690
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln) rs1060503906
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser) rs2151582358
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala) rs374004608
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe) rs1567628713
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala) rs779180729
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg) rs1597883056
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val) rs2151601629
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.888+652G>A
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001065.3(TNFRSF1A):c.-284delC rs140244212
NM_001065.4(TNFRSF1A):c.*394A>T rs150426904
NM_001065.4(TNFRSF1A):c.-162T>C rs886049751
NM_001065.4(TNFRSF1A):c.-82C>T rs1948200491
NM_001065.4(TNFRSF1A):c.1000A>C (p.Ile334Leu) rs1178535061
NM_001065.4(TNFRSF1A):c.1004C>A (p.Pro335His) rs150408610
NM_001065.4(TNFRSF1A):c.1009C>G (p.Pro337Ala)
NM_001065.4(TNFRSF1A):c.1009C>T (p.Pro337Ser) rs2136814221
NM_001065.4(TNFRSF1A):c.1025A>G (p.Glu342Gly) rs2136814138
NM_001065.4(TNFRSF1A):c.1033G>A (p.Ala345Thr)
NM_001065.4(TNFRSF1A):c.1058-4G>C rs369451569
NM_001065.4(TNFRSF1A):c.1072A>G (p.Thr358Ala) rs200827709
NM_001065.4(TNFRSF1A):c.1081G>A (p.Ala361Thr)
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=) rs746923911
NM_001065.4(TNFRSF1A):c.1091A>G (p.Glu364Gly) rs1191537375
NM_001065.4(TNFRSF1A):c.1097T>A (p.Val366Glu)
NM_001065.4(TNFRSF1A):c.109A>T (p.Arg37Trp) rs2136823158
NM_001065.4(TNFRSF1A):c.1108C>T (p.Arg370Cys)
NM_001065.4(TNFRSF1A):c.1115A>C (p.Lys372Thr) rs1592043327
NM_001065.4(TNFRSF1A):c.112G>C (p.Glu38Gln)
NM_001065.4(TNFRSF1A):c.1160G>A (p.Arg387Gln)
NM_001065.4(TNFRSF1A):c.1165G>A (p.Glu389Lys)
NM_001065.4(TNFRSF1A):c.1177G>T (p.Gly393Trp) rs898201669
NM_001065.4(TNFRSF1A):c.1180C>A (p.Arg394Ser)
NM_001065.4(TNFRSF1A):c.1222A>G (p.Arg408Gly)
NM_001065.4(TNFRSF1A):c.1235C>T (p.Pro412Leu)
NM_001065.4(TNFRSF1A):c.1247C>T (p.Ala416Val) rs1350150713
NM_001065.4(TNFRSF1A):c.125G>C (p.Ser42Thr)
NM_001065.4(TNFRSF1A):c.1292T>C (p.Leu431Pro) rs1947998142
NM_001065.4(TNFRSF1A):c.1318G>A (p.Ala440Thr)
NM_001065.4(TNFRSF1A):c.1322T>A (p.Leu441His) rs2136812048
NM_001065.4(TNFRSF1A):c.1324T>A (p.Cys442Ser) rs2136812027
NM_001065.4(TNFRSF1A):c.1327G>T (p.Gly443Cys) rs749489763
NM_001065.4(TNFRSF1A):c.1343C>A (p.Pro448Gln)
NM_001065.4(TNFRSF1A):c.1343C>G (p.Pro448Arg)
NM_001065.4(TNFRSF1A):c.1349C>G (p.Ala450Gly) rs1426121771
NM_001065.4(TNFRSF1A):c.1351C>T (p.Pro451Ser) rs2136811861
NM_001065.4(TNFRSF1A):c.1354A>T (p.Ser452Cys) rs200346150
NM_001065.4(TNFRSF1A):c.1356T>A (p.Ser452Arg) rs886049750
NM_001065.4(TNFRSF1A):c.14C>A (p.Thr5Asn) rs1948198919
NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr) rs104895223
NM_001065.4(TNFRSF1A):c.193+1G>C
NM_001065.4(TNFRSF1A):c.194-14G>C
NM_001065.4(TNFRSF1A):c.197C>T (p.Thr66Ile) rs104895243
NM_001065.4(TNFRSF1A):c.208_210del (p.Asn70del) rs2136822662
NM_001065.4(TNFRSF1A):c.209A>G (p.Asn70Ser) rs1948084769
NM_001065.4(TNFRSF1A):c.212A>T (p.Asp71Val) rs1592047919
NM_001065.4(TNFRSF1A):c.238G>A (p.Asp80Asn) rs1948084094
NM_001065.4(TNFRSF1A):c.241T>G (p.Cys81Gly)
NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp) rs56002980
NM_001065.4(TNFRSF1A):c.259G>A (p.Gly87Ser)
NM_001065.4(TNFRSF1A):c.265T>A (p.Phe89Ile) rs104895245
NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu) rs104895245
NM_001065.4(TNFRSF1A):c.268A>C (p.Thr90Pro) rs1592047833
NM_001065.4(TNFRSF1A):c.271G>A (p.Ala91Thr) rs1246512040
NM_001065.4(TNFRSF1A):c.280A>T (p.Asn94Tyr) rs1948083279
NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys) rs876661014
NM_001065.4(TNFRSF1A):c.291_302del (p.Arg97_Leu100del) rs2136822397
NM_001065.4(TNFRSF1A):c.315C>G (p.Cys105Trp) rs1565468122
NM_001065.4(TNFRSF1A):c.319A>C (p.Lys107Gln)
NM_001065.4(TNFRSF1A):c.323-3C>T
NM_001065.4(TNFRSF1A):c.337G>A (p.Glu113Lys)
NM_001065.4(TNFRSF1A):c.365A>G (p.Asp122Gly)
NM_001065.4(TNFRSF1A):c.386A>G (p.Lys129Arg)
NM_001065.4(TNFRSF1A):c.413A>G (p.Glu138Gly)
NM_001065.4(TNFRSF1A):c.428G>C (p.Cys143Ser) rs1948077694
NM_001065.4(TNFRSF1A):c.455G>A (p.Gly152Glu)
NM_001065.4(TNFRSF1A):c.458C>T (p.Thr153Ile)
NM_001065.4(TNFRSF1A):c.472+6C>A rs104895277
NM_001065.4(TNFRSF1A):c.472+6C>T rs104895277
NM_001065.4(TNFRSF1A):c.472+7G>T rs200194581
NM_001065.4(TNFRSF1A):c.473-36_473-15dup rs1319256929
NM_001065.4(TNFRSF1A):c.48G>A (p.Leu16=)
NM_001065.4(TNFRSF1A):c.494T>C (p.Val165Ala) rs2136821295
NM_001065.4(TNFRSF1A):c.49G>A (p.Glu17Lys) rs1948090517
NM_001065.4(TNFRSF1A):c.506A>G (p.His169Arg) rs1206840359
NM_001065.4(TNFRSF1A):c.551+6T>C
NM_001065.4(TNFRSF1A):c.560A>T (p.Lys187Ile) rs1948042781
NM_001065.4(TNFRSF1A):c.575C>T (p.Thr192Met)
NM_001065.4(TNFRSF1A):c.584G>C (p.Cys195Ser) rs2136817796
NM_001065.4(TNFRSF1A):c.58G>A (p.Val20Met)
NM_001065.4(TNFRSF1A):c.590C>G (p.Pro197Arg)
NM_001065.4(TNFRSF1A):c.603T>C (p.Asn201=) rs780792039
NM_001065.4(TNFRSF1A):c.604G>A (p.Val202Ile) rs1948041880
NM_001065.4(TNFRSF1A):c.605T>A (p.Val202Asp) rs104895285
NM_001065.4(TNFRSF1A):c.607A>G (p.Lys203Glu) rs2136817744
NM_001065.4(TNFRSF1A):c.609_620del (p.Lys203_Asp207delinsAsn)
NM_001065.4(TNFRSF1A):c.614C>A (p.Thr205Asn)
NM_001065.4(TNFRSF1A):c.626-6C>T rs1275607339
NM_001065.4(TNFRSF1A):c.626G>T (p.Gly209Val)
NM_001065.4(TNFRSF1A):c.632_633delinsAG (p.Thr211Lys) rs1948038834
NM_001065.4(TNFRSF1A):c.638T>C (p.Leu213Pro) rs1948038793
NM_001065.4(TNFRSF1A):c.644C>T (p.Pro215Leu) rs1948038665
NM_001065.4(TNFRSF1A):c.650T>C (p.Val217Ala) rs1555107565
NM_001065.4(TNFRSF1A):c.679C>G (p.Leu227Val)
NM_001065.4(TNFRSF1A):c.706T>C (p.Tyr236His) rs2136817274
NM_001065.4(TNFRSF1A):c.71C>A (p.Pro24His)
NM_001065.4(TNFRSF1A):c.739+5G>C
NM_001065.4(TNFRSF1A):c.739+6_739+9del rs866809929
NM_001065.4(TNFRSF1A):c.740T>C (p.Val247Ala) rs2136816306
NM_001065.4(TNFRSF1A):c.756A>G (p.Thr252=) rs1948029493
NM_001065.4(TNFRSF1A):c.757C>G (p.Pro253Ala) rs200710363
NM_001065.4(TNFRSF1A):c.769-5_769-4del rs1948022227
NM_001065.4(TNFRSF1A):c.769G>C (p.Gly257Arg) rs201623463
NM_001065.4(TNFRSF1A):c.769G>T (p.Gly257Trp)
NM_001065.4(TNFRSF1A):c.770G>C (p.Gly257Ala) rs768572402
NM_001065.4(TNFRSF1A):c.774G>T (p.Glu258Asp)
NM_001065.4(TNFRSF1A):c.790A>G (p.Thr264Ala) rs2136815417
NM_001065.4(TNFRSF1A):c.791C>A (p.Thr264Asn)
NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)
NM_001065.4(TNFRSF1A):c.796C>T (p.Pro266Ser) rs372067035
NM_001065.4(TNFRSF1A):c.811C>G (p.Pro271Ala) rs202207247
NM_001065.4(TNFRSF1A):c.824C>T (p.Pro275Leu) rs1473547216
NM_001065.4(TNFRSF1A):c.826_861del (p.Thr276_Pro287del) rs760560928
NM_001065.4(TNFRSF1A):c.859C>G (p.Pro287Ala)
NM_001065.4(TNFRSF1A):c.865C>T (p.Pro289Ser)
NM_001065.4(TNFRSF1A):c.898A>G (p.Thr300Ala)
NM_001065.4(TNFRSF1A):c.901C>T (p.Pro301Ser)
NM_001065.4(TNFRSF1A):c.903dup (p.Gly302fs)
NM_001065.4(TNFRSF1A):c.918C>A (p.Asn306Lys)
NM_001065.4(TNFRSF1A):c.922G>T (p.Ala308Ser)
NM_001065.4(TNFRSF1A):c.929C>T (p.Pro310Leu)
NM_001065.4(TNFRSF1A):c.92T>G (p.Val31Gly) rs763940329
NM_001065.4(TNFRSF1A):c.940G>A (p.Val314Met) rs2136814639
NM_001065.4(TNFRSF1A):c.95C>G (p.Pro32Arg) rs1592048275
NM_001065.4(TNFRSF1A):c.971T>C (p.Ile324Thr)
NM_001065.4(TNFRSF1A):c.974T>G (p.Leu325Arg)
NM_001065.4(TNFRSF1A):c.980C>T (p.Thr327Ile) rs1948014776
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.225C>T (p.Leu75=) rs2132478434
NM_001083116.3(PRF1):c.391G>T (p.Val131Phe) rs761941942
NM_001083116.3(PRF1):c.402C>T (p.Asp134=) rs564234285
NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu) rs1589233127
NM_001083116.3(PRF1):c.793A>C (p.Asn265His) rs2132476420
NM_001083116.3(PRF1):c.865A>G (p.Thr289Ala) rs2132476275
NM_001083603.3(PTCH1):c.109del (p.Cys37fs) rs1554710890
NM_001084.5(PLOD3):c.1381A>C (p.Ile461Leu)
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser) rs369002471
NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn) rs1798215298
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg) rs143577626
NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001099857.5(IKBKG):c.51T>C (p.Ser17=)
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298
NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu) rs780644030
NM_001110556.2(FLNA):c.1066-15C>A rs1557179297
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001111.5(ADAR):c.*1036C>G rs886045327
NM_001111.5(ADAR):c.*1104T>C rs886045326
NM_001111.5(ADAR):c.*110dup rs886045337
NM_001111.5(ADAR):c.*1192C>T rs931843098
NM_001111.5(ADAR):c.*1221C>T rs1696549699
NM_001111.5(ADAR):c.*1322A>G rs1237025828
NM_001111.5(ADAR):c.*1336A>G rs1385402270
NM_001111.5(ADAR):c.*1566T>G rs886045324
NM_001111.5(ADAR):c.*1712C>G rs886045323
NM_001111.5(ADAR):c.*1799_*1800del rs886045321
NM_001111.5(ADAR):c.*1919T>G rs1198048286
NM_001111.5(ADAR):c.*206T>G rs886045336
NM_001111.5(ADAR):c.*2134T>C rs1696483286
NM_001111.5(ADAR):c.*2153T>C rs1696482158
NM_001111.5(ADAR):c.*2323_*2330dup rs113414804
NM_001111.5(ADAR):c.*2727dup rs754401167
NM_001111.5(ADAR):c.*361C>G rs886045333
NM_001111.5(ADAR):c.*519del rs886045331
NM_001111.5(ADAR):c.*714G>A rs886045329
NM_001111.5(ADAR):c.*749G>A rs886045328
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val) rs1697885743
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1009A>G (p.Met337Val)
NM_001111.5(ADAR):c.1025A>T (p.Asp342Val)
NM_001111.5(ADAR):c.1027G>A (p.Val343Ile)
NM_001111.5(ADAR):c.1034G>A (p.Arg345Lys)
NM_001111.5(ADAR):c.1041G>T (p.Gly347=) rs2101640517
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) rs1456341426
NM_001111.5(ADAR):c.1042A>T (p.Thr348Ser) rs1456341426
NM_001111.5(ADAR):c.1046C>T (p.Thr349Ile)
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1055T>C (p.Ile352Thr)
NM_001111.5(ADAR):c.1056A>G (p.Ile352Met)
NM_001111.5(ADAR):c.1063T>A (p.Leu355Met)
NM_001111.5(ADAR):c.1072AAG[1] (p.Lys359del)
NM_001111.5(ADAR):c.1073A>G (p.Lys358Arg)
NM_001111.5(ADAR):c.107C>T (p.Pro36Leu)
NM_001111.5(ADAR):c.1081G>A (p.Glu361Lys)
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys) rs2101640193
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile) rs1697874197
NM_001111.5(ADAR):c.1099A>G (p.Arg367Gly)
NM_001111.5(ADAR):c.1103A>G (p.Asn368Ser)
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1106C>G (p.Thr369Arg) rs958924655
NM_001111.5(ADAR):c.1106C>T (p.Thr369Met) rs958924655
NM_001111.5(ADAR):c.1108A>G (p.Asn370Asp)
NM_001111.5(ADAR):c.110G>T (p.Ser37Ile)
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys) rs1222101959
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn)
NM_001111.5(ADAR):c.1113T>C (p.Ser371=) rs780284489
NM_001111.5(ADAR):c.1126G>A (p.Ala376Thr)
NM_001111.5(ADAR):c.1126G>T (p.Ala376Ser)
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) rs1571107810
NM_001111.5(ADAR):c.112A>T (p.Ser38Cys)
NM_001111.5(ADAR):c.1132G>T (p.Ala378Ser)
NM_001111.5(ADAR):c.1138A>G (p.Ile380Val)
NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)
NM_001111.5(ADAR):c.1154G>A (p.Arg385Lys)
NM_001111.5(ADAR):c.115T>G (p.Phe39Val) rs1697956017
NM_001111.5(ADAR):c.1163A>G (p.Glu388Gly)
NM_001111.5(ADAR):c.1168C>T (p.Leu390Phe)
NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)
NM_001111.5(ADAR):c.1171A>G (p.Thr391Ala)
NM_001111.5(ADAR):c.1175G>A (p.Cys392Tyr)
NM_001111.5(ADAR):c.1178A>G (p.Asn393Ser) rs1697865468
NM_001111.5(ADAR):c.1180A>G (p.Ile394Val)
NM_001111.5(ADAR):c.1193A>G (p.Asn398Ser)
NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)
NM_001111.5(ADAR):c.1208T>C (p.Met403Thr) rs2101639346
NM_001111.5(ADAR):c.1209G>A (p.Met403Ile)
NM_001111.5(ADAR):c.1210G>A (p.Val404Ile)
NM_001111.5(ADAR):c.1211T>C (p.Val404Ala) rs2101639317
NM_001111.5(ADAR):c.1213A>G (p.Thr405Ala)
NM_001111.5(ADAR):c.1217C>G (p.Thr406Arg) rs1571107399
NM_001111.5(ADAR):c.1222A>G (p.Lys408Glu)
NM_001111.5(ADAR):c.1223A>G (p.Lys408Arg)
NM_001111.5(ADAR):c.122T>C (p.Leu41Pro)
NM_001111.5(ADAR):c.1232A>C (p.Asn411Thr)
NM_001111.5(ADAR):c.1241A>C (p.Glu414Ala)
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe) rs1697861504
NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu) rs1697861124
NM_001111.5(ADAR):c.1274C>T (p.Ala425Val)
NM_001111.5(ADAR):c.127C>G (p.Gln43Glu) rs1697954006
NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala)
NM_001111.5(ADAR):c.1300C>T (p.Pro434Ser) rs749677748
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
NM_001111.5(ADAR):c.130A>G (p.Ile44Val)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys) rs1571107070
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp) rs1274234563
NM_001111.5(ADAR):c.1319G>T (p.Gly440Val)
NM_001111.5(ADAR):c.1322C>T (p.Pro441Leu)
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu) rs1697857226
NM_001111.5(ADAR):c.134A>T (p.Glu45Val)
NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367
NM_001111.5(ADAR):c.1399C>T (p.Arg467Cys)
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser) rs761708272
NM_001111.5(ADAR):c.1405G>T (p.Ala469Ser) rs886045343
NM_001111.5(ADAR):c.142A>G (p.Lys48Glu)
NM_001111.5(ADAR):c.1437G>T (p.Met479Ile) rs2101638407
NM_001111.5(ADAR):c.1445T>C (p.Phe482Ser)
NM_001111.5(ADAR):c.1450A>G (p.Ser484Gly) rs886045342
NM_001111.5(ADAR):c.1454A>G (p.His485Arg)
NM_001111.5(ADAR):c.1462C>A (p.Pro488Thr)
NM_001111.5(ADAR):c.1465C>T (p.Arg489Trp)
NM_001111.5(ADAR):c.1466G>C (p.Arg489Pro)
NM_001111.5(ADAR):c.1468T>A (p.Cys490Ser)
NM_001111.5(ADAR):c.1472C>T (p.Ser491Leu)
NM_001111.5(ADAR):c.1475C>T (p.Pro492Leu) rs1697847597
NM_001111.5(ADAR):c.1478A>G (p.Tyr493Cys) rs1697847223
NM_001111.5(ADAR):c.1480A>G (p.Lys494Glu) rs2101638093
NM_001111.5(ADAR):c.1490C>T (p.Thr497Ile)
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
NM_001111.5(ADAR):c.15+4A>G rs2101670089
NM_001111.5(ADAR):c.15+6C>G
NM_001111.5(ADAR):c.15+6C>T rs1698312357
NM_001111.5(ADAR):c.1526T>C (p.Leu509Ser) rs1697844160
NM_001111.5(ADAR):c.1534G>A (p.Ala512Thr) rs2101637881
NM_001111.5(ADAR):c.1543G>A (p.Ala515Thr) rs200830156
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn) rs1457807318
NM_001111.5(ADAR):c.1565A>G (p.Asn522Ser)
NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg) rs770224427
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg) rs1571096481
NM_001111.5(ADAR):c.1631G>A (p.Arg544Gln)
NM_001111.5(ADAR):c.1634A>G (p.Glu545Gly)
NM_001111.5(ADAR):c.1636T>C (p.Phe546Leu)
NM_001111.5(ADAR):c.1645G>A (p.Ala549Thr) rs892495161
NM_001111.5(ADAR):c.1646C>G (p.Ala549Gly)
NM_001111.5(ADAR):c.1660A>G (p.Lys554Glu)
NM_001111.5(ADAR):c.1667T>C (p.Val556Ala)
NM_001111.5(ADAR):c.1679A>T (p.Asp560Val)
NM_001111.5(ADAR):c.1681G>A (p.Ala561Thr)
NM_001111.5(ADAR):c.1687A>C (p.Met563Leu)
NM_001111.5(ADAR):c.1687A>G (p.Met563Val)
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu) rs777616553
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys) rs1205545887
NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)
NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)
NM_001111.5(ADAR):c.1735G>A (p.Gly579Arg) rs2101626436
NM_001111.5(ADAR):c.1739A>G (p.Lys580Arg)
NM_001111.5(ADAR):c.1740A>T (p.Lys580Asn) rs2101626421
NM_001111.5(ADAR):c.1749ATC[1] (p.Ser585del) rs17843870
NM_001111.5(ADAR):c.1754C>T (p.Ser585Phe)
NM_001111.5(ADAR):c.1757A>G (p.His586Arg)
NM_001111.5(ADAR):c.1760A>C (p.Tyr587Ser)
NM_001111.5(ADAR):c.1760A>T (p.Tyr587Phe) rs17843865
NM_001111.5(ADAR):c.1768G>C (p.Glu590Gln) rs772602893
NM_001111.5(ADAR):c.1774G>A (p.Glu592Lys)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+3A>G
NM_001111.5(ADAR):c.1785+4G>A rs1571095587
NM_001111.5(ADAR):c.1785G>A (p.Lys595=)
NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)
NM_001111.5(ADAR):c.17G>C (p.Gly6Ala)
NM_001111.5(ADAR):c.1820C>T (p.Thr607Ile)
NM_001111.5(ADAR):c.1824CTT[1] (p.Phe610del) rs759833046
NM_001111.5(ADAR):c.1825T>C (p.Phe609Leu)
NM_001111.5(ADAR):c.1826T>C (p.Phe609Ser)
NM_001111.5(ADAR):c.1833T>A (p.Ser611=)
NM_001111.5(ADAR):c.1835G>A (p.Gly612Glu)
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn) rs766823464
NM_001111.5(ADAR):c.1846G>T (p.Val616Phe) rs570647049
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr) rs776484151
NM_001111.5(ADAR):c.1871A>G (p.His624Arg) rs1423795702
NM_001111.5(ADAR):c.1874A>G (p.Lys625Arg)
NM_001111.5(ADAR):c.1888T>C (p.Cys630Arg)
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1897C>G (p.Arg633Gly) rs1222149445
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) rs886045341
NM_001111.5(ADAR):c.1912G>C (p.Glu638Gln)
NM_001111.5(ADAR):c.1916G>T (p.Gly639Val) rs979268518
NM_001111.5(ADAR):c.1924C>T (p.His642Tyr)
NM_001111.5(ADAR):c.1925A>G (p.His642Arg)
NM_001111.5(ADAR):c.1934+4T>C
NM_001111.5(ADAR):c.1934+8C>G
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
NM_001111.5(ADAR):c.1981A>C (p.Ser661Arg)
NM_001111.5(ADAR):c.1984G>A (p.Ala662Thr)
NM_001111.5(ADAR):c.1987C>T (p.Pro663Ser) rs763748775
NM_001111.5(ADAR):c.1993A>C (p.Lys665Gln)
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu) rs2101620970
NM_001111.5(ADAR):c.2026G>A (p.Ala676Thr) rs2101620927
NM_001111.5(ADAR):c.202C>G (p.Leu68Val) rs1280361409
NM_001111.5(ADAR):c.2030T>C (p.Met677Thr)
NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)
NM_001111.5(ADAR):c.2035G>A (p.Ala679Thr)
NM_001111.5(ADAR):c.2051C>T (p.Ala684Val) rs776658787
NM_001111.5(ADAR):c.2054C>T (p.Thr685Ile)
NM_001111.5(ADAR):c.205C>T (p.Pro69Ser)
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe) rs1697555171
NM_001111.5(ADAR):c.2071G>A (p.Asp691Asn)
NM_001111.5(ADAR):c.2080-11T>G
NM_001111.5(ADAR):c.2080-3T>C rs372190707
NM_001111.5(ADAR):c.2080-6C>T
NM_001111.5(ADAR):c.2082T>A (p.Pro694=)
NM_001111.5(ADAR):c.2083G>C (p.Glu695Gln) rs1329989151
NM_001111.5(ADAR):c.2086G>A (p.Gly696Ser)
NM_001111.5(ADAR):c.2087G>A (p.Gly696Asp)
NM_001111.5(ADAR):c.2089A>G (p.Met697Val) rs754593004
NM_001111.5(ADAR):c.2099A>G (p.Glu700Gly) rs527888465
NM_001111.5(ADAR):c.20A>G (p.Tyr7Cys)
NM_001111.5(ADAR):c.2104C>T (p.Leu702Phe) rs2101619925
NM_001111.5(ADAR):c.2108A>C (p.Asp703Ala) rs2101619884
NM_001111.5(ADAR):c.2112C>G (p.Asn704Lys)
NM_001111.5(ADAR):c.2115G>C (p.Leu705Phe)
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu) rs548493468
NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)
NM_001111.5(ADAR):c.2131A>C (p.Asn711His) rs2101619763
NM_001111.5(ADAR):c.214C>T (p.Arg72Trp)
NM_001111.5(ADAR):c.2156T>C (p.Leu719Pro)
NM_001111.5(ADAR):c.2158G>A (p.Val720Met)
NM_001111.5(ADAR):c.2158G>C (p.Val720Leu) rs759837017
NM_001111.5(ADAR):c.2179C>T (p.Pro727Ser) rs2101619511
NM_001111.5(ADAR):c.2191C>G (p.Leu731Val)
NM_001111.5(ADAR):c.2199G>T (p.Glu733Asp)
NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr) rs2101619399
NM_001111.5(ADAR):c.2213A>G (p.His738Arg)
NM_001111.5(ADAR):c.2216G>A (p.Gly739Asp) rs2101619310
NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr) rs2101619298
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2270+10C>T rs1697527897
NM_001111.5(ADAR):c.2270A>G (p.Lys757Arg) rs1159795340
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu) rs1181329844
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
NM_001111.5(ADAR):c.229G>A (p.Val77Ile)
NM_001111.5(ADAR):c.22T>A (p.Ser8Thr)
NM_001111.5(ADAR):c.2302T>C (p.Trp768Arg) rs1697065372
NM_001111.5(ADAR):c.2306T>A (p.Phe769Tyr)
NM_001111.5(ADAR):c.2306T>C (p.Phe769Ser) rs886045340
NM_001111.5(ADAR):c.2321C>T (p.Ala774Val)
NM_001111.5(ADAR):c.232C>G (p.Leu78Val)
NM_001111.5(ADAR):c.2330A>G (p.Lys777Arg) rs1197574959
NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)
NM_001111.5(ADAR):c.2376G>T (p.Leu792Phe)
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr)
NM_001111.5(ADAR):c.2384A>G (p.Glu795Gly)
NM_001111.5(ADAR):c.2388C>A (p.Asn796Lys) rs1251582638
NM_001111.5(ADAR):c.2388C>G (p.Asn796Lys)
NM_001111.5(ADAR):c.2398G>A (p.Glu800Lys)
NM_001111.5(ADAR):c.2399A>G (p.Glu800Gly) rs1697057806
NM_001111.5(ADAR):c.2401C>G (p.Arg801Gly)
NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)
NM_001111.5(ADAR):c.2402G>A (p.Arg801His) rs1697057369
NM_001111.5(ADAR):c.2410T>A (p.Phe804Ile)
NM_001111.5(ADAR):c.2413A>G (p.Thr805Ala)
NM_001111.5(ADAR):c.2413A>T (p.Thr805Ser) rs1325328855
NM_001111.5(ADAR):c.2453C>G (p.Thr818Ser) rs2101588346
NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)
NM_001111.5(ADAR):c.2467T>G (p.Ser823Ala)
NM_001111.5(ADAR):c.2476C>T (p.Pro826Ser)
NM_001111.5(ADAR):c.2488C>T (p.Pro830Ser)
NM_001111.5(ADAR):c.2489C>T (p.Pro830Leu) rs1232214809
NM_001111.5(ADAR):c.2497-3C>T
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)
NM_001111.5(ADAR):c.2513G>C (p.Ser838Thr) rs2101585930
NM_001111.5(ADAR):c.2524G>C (p.Asp842His) rs2101585854
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val) rs2101585739
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
NM_001111.5(ADAR):c.258G>C (p.Arg86Ser)
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
NM_001111.5(ADAR):c.2597G>A (p.Arg866His) rs770937947
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val) rs748430309
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr) rs2101585327
NM_001111.5(ADAR):c.261A>G (p.Gln87=)
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
NM_001111.5(ADAR):c.2668+4A>G rs2101584990
NM_001111.5(ADAR):c.2668+6T>G
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)
NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile) rs1415969306
NM_001111.5(ADAR):c.271A>G (p.Arg91Gly)
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly) rs2101582935
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln) rs754785131
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)
NM_001111.5(ADAR):c.275G>T (p.Gly92Val)
NM_001111.5(ADAR):c.2762+6C>G rs371450928
NM_001111.5(ADAR):c.2762+9G>A
NM_001111.5(ADAR):c.2763-10_2763-7del rs2101579220
NM_001111.5(ADAR):c.2763-7T>C rs1696928206
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln) rs1696926150
NM_001111.5(ADAR):c.2786A>C (p.Lys929Thr)
NM_001111.5(ADAR):c.2788T>C (p.Tyr930His)
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys) rs886082285
NM_001111.5(ADAR):c.2795C>T (p.Ser932Phe) rs886082285
NM_001111.5(ADAR):c.2798A>G (p.Gln933Arg) rs1696924755
NM_001111.5(ADAR):c.2799G>T (p.Gln933His)
NM_001111.5(ADAR):c.2803G>C (p.Ala935Pro) rs1435318350
NM_001111.5(ADAR):c.2824C>T (p.Pro942Ser) rs1054969472
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001111.5(ADAR):c.2832G>T (p.Lys944Asn)
NM_001111.5(ADAR):c.283A>G (p.Arg95Gly)
NM_001111.5(ADAR):c.2840A>C (p.Glu947Ala)
NM_001111.5(ADAR):c.2842A>G (p.Lys948Glu) rs2101578630
NM_001111.5(ADAR):c.2872C>T (p.His958Tyr)
NM_001111.5(ADAR):c.2879A>G (p.Tyr960Cys)
NM_001111.5(ADAR):c.287G>C (p.Gly96Ala)
NM_001111.5(ADAR):c.287G>T (p.Gly96Val)
NM_001111.5(ADAR):c.2893C>T (p.Pro965Ser)
NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)
NM_001111.5(ADAR):c.289G>A (p.Val97Met)
NM_001111.5(ADAR):c.2908G>A (p.Ala970Thr)
NM_001111.5(ADAR):c.2912T>G (p.Leu971Arg)
NM_001111.5(ADAR):c.2926_2928del (p.Cys976del) rs2101576453
NM_001111.5(ADAR):c.292C>T (p.His98Tyr)
NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)
NM_001111.5(ADAR):c.293A>G (p.His98Arg)
NM_001111.5(ADAR):c.2941A>G (p.Met981Val)
NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)
NM_001111.5(ADAR):c.2951C>G (p.Thr984Arg)
NM_001111.5(ADAR):c.2954A>G (p.Glu985Gly)
NM_001111.5(ADAR):c.2957C>T (p.Ser986Phe) rs777129140
NM_001111.5(ADAR):c.2959C>T (p.Arg987Cys)
NM_001111.5(ADAR):c.2963A>G (p.His988Arg)
NM_001111.5(ADAR):c.2966A>G (p.Tyr989Cys)
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
NM_001111.5(ADAR):c.3001C>T (p.Arg1001Cys)
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His) rs1571058184
NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)
NM_001111.5(ADAR):c.3019+4A>G rs2101575711
NM_001111.5(ADAR):c.3020-10T>G
NM_001111.5(ADAR):c.3025G>T (p.Gly1009Cys) rs2101567036
NM_001111.5(ADAR):c.3029C>T (p.Thr1010Ile)
NM_001111.5(ADAR):c.303T>G (p.Ser101Arg)
NM_001111.5(ADAR):c.3049G>A (p.Asp1017Asn)
NM_001111.5(ADAR):c.3052A>G (p.Ile1018Val) rs1696761288
NM_001111.5(ADAR):c.3055G>A (p.Val1019Met) rs1696760657
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met) rs772773296
NM_001111.5(ADAR):c.3064T>C (p.Trp1022Arg)
NM_001111.5(ADAR):c.3067G>A (p.Asp1023Asn) rs1696759083
NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp)
NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)
NM_001111.5(ADAR):c.3081C>T (p.Leu1027=) rs145851568
NM_001111.5(ADAR):c.308G>A (p.Gly103Glu)
NM_001111.5(ADAR):c.3092T>G (p.Leu1031Arg) rs2101566565
NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr) rs2101566531
NM_001111.5(ADAR):c.3101T>C (p.Met1034Thr) rs2101566489
NM_001111.5(ADAR):c.3107G>A (p.Cys1036Tyr) rs761590986
NM_001111.5(ADAR):c.3116A>C (p.Lys1039Thr)
NM_001111.5(ADAR):c.3116A>G (p.Lys1039Arg)
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) rs779004315
NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)
NM_001111.5(ADAR):c.3168C>G (p.Phe1056Leu)
NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)
NM_001111.5(ADAR):c.3202+6G>A
NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)
NM_001111.5(ADAR):c.320G>T (p.Gly107Val)
NM_001111.5(ADAR):c.3223C>T (p.His1075Tyr) rs2101563703
NM_001111.5(ADAR):c.3230C>A (p.Thr1077Asn)
NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)
NM_001111.5(ADAR):c.3233G>C (p.Arg1078Pro)
NM_001111.5(ADAR):c.3248G>A (p.Arg1083His) rs1363826622
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly) rs1696719202
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
NM_001111.5(ADAR):c.3286C>G (p.Arg1096Gly) rs769148365
NM_001111.5(ADAR):c.3287G>A (p.Arg1096Gln) rs747462052
NM_001111.5(ADAR):c.3289C>T (p.His1097Tyr) rs200537032
NM_001111.5(ADAR):c.328C>T (p.His110Tyr)
NM_001111.5(ADAR):c.3290A>G (p.His1097Arg)
NM_001111.5(ADAR):c.329A>G (p.His110Arg)
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
NM_001111.5(ADAR):c.3301G>T (p.Val1101Phe) rs2101563031
NM_001111.5(ADAR):c.3315+6A>C
NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val) rs536100209
NM_001111.5(ADAR):c.3334T>C (p.Tyr1112His)
NM_001111.5(ADAR):c.3340T>A (p.Ser1114Thr)
NM_001111.5(ADAR):c.3343A>C (p.Lys1115Gln)
NM_001111.5(ADAR):c.3344A>G (p.Lys1115Arg)
NM_001111.5(ADAR):c.335C>T (p.Ser112Leu)
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn) rs1696677352
NM_001111.5(ADAR):c.3376G>C (p.Val1126Leu) rs1571046840
NM_001111.5(ADAR):c.337C>G (p.Pro113Ala)
NM_001111.5(ADAR):c.3380A>G (p.Asn1127Ser)
NM_001111.5(ADAR):c.3386G>A (p.Cys1129Tyr)
NM_001111.5(ADAR):c.3386G>T (p.Cys1129Phe)
NM_001111.5(ADAR):c.3404A>G (p.Asp1135Gly)
NM_001111.5(ADAR):c.3421G>A (p.Gly1141Ser)
NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3443+3A>T rs746915200
NM_001111.5(ADAR):c.3444G>A (p.Gly1148=) rs2101558286
NM_001111.5(ADAR):c.3445C>T (p.Pro1149Ser) rs2101558262
NM_001111.5(ADAR):c.3452A>G (p.Asn1151Ser)
NM_001111.5(ADAR):c.3454G>A (p.Glu1152Lys)
NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln) rs1304875258
NM_001111.5(ADAR):c.3466G>A (p.Val1156Ile)
NM_001111.5(ADAR):c.3467T>C (p.Val1156Ala)
NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)
NM_001111.5(ADAR):c.3476del (p.Lys1159fs)
NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)
NM_001111.5(ADAR):c.348G>C (p.Arg116Ser)
NM_001111.5(ADAR):c.3490C>T (p.Leu1164=)
NM_001111.5(ADAR):c.3491T>G (p.Leu1164Arg)
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe) rs1696650377
NM_001111.5(ADAR):c.3516_3519del (p.Tyr1173fs)
NM_001111.5(ADAR):c.3520C>G (p.Arg1174Gly) rs1243173166
NM_001111.5(ADAR):c.3541T>C (p.Ser1181Pro) rs374282086
NM_001111.5(ADAR):c.3543del (p.Tyr1182fs)
NM_001111.5(ADAR):c.3547G>C (p.Gly1183Arg)
NM_001111.5(ADAR):c.3548G>T (p.Gly1183Val)
NM_001111.5(ADAR):c.3566C>T (p.Ala1189Val)
NM_001111.5(ADAR):c.3568C>G (p.Arg1190Gly) rs979532140
NM_001111.5(ADAR):c.3569G>A (p.Arg1190His) rs1302098873
NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)
NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln) rs2101556953
NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)
NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser) rs1475258937
NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)
NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)
NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu) rs2101556867
NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)
NM_001111.5(ADAR):c.3634A>G (p.Ile1212Val)
NM_001111.5(ADAR):c.3641A>G (p.Lys1214Arg)
NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)
NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn) rs2101556653
NM_001111.5(ADAR):c.365G>A (p.Gly122Asp)
NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)
NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)
NM_001111.5(ADAR):c.377T>C (p.Leu126Pro)
NM_001111.5(ADAR):c.382T>A (p.Ser128Thr)
NM_001111.5(ADAR):c.38A>T (p.Tyr13Phe)
NM_001111.5(ADAR):c.394G>A (p.Glu132Lys) rs1697933888
NM_001111.5(ADAR):c.400A>C (p.Ser134Arg)
NM_001111.5(ADAR):c.403A>G (p.Ile135Val) rs1697932885
NM_001111.5(ADAR):c.406T>C (p.Tyr136His) rs2101644128
NM_001111.5(ADAR):c.418G>C (p.Glu140Gln) rs2101644028
NM_001111.5(ADAR):c.41C>G (p.Thr14Ser)
NM_001111.5(ADAR):c.422A>G (p.Gln141Arg)
NM_001111.5(ADAR):c.44A>C (p.His15Pro) rs1697961105
NM_001111.5(ADAR):c.452G>A (p.Gly151Glu)
NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)
NM_001111.5(ADAR):c.475C>G (p.His159Asp) rs921496664
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
NM_001111.5(ADAR):c.487G>T (p.Gly163Trp) rs762094056
NM_001111.5(ADAR):c.494T>A (p.Leu165His) rs1697924081
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr) rs1571111089
NM_001111.5(ADAR):c.503C>T (p.Pro168Leu)
NM_001111.5(ADAR):c.511G>A (p.Glu171Lys) rs2101643546
NM_001111.5(ADAR):c.529T>C (p.Tyr177His) rs2101643438
NM_001111.5(ADAR):c.530A>G (p.Tyr177Cys)
NM_001111.5(ADAR):c.532T>A (p.Ser178Thr) rs1235906378
NM_001111.5(ADAR):c.533C>T (p.Ser178Phe) rs1697921275
NM_001111.5(ADAR):c.559A>G (p.Lys187Glu) rs1697919383
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_001111.5(ADAR):c.593C>A (p.Ala198Glu)
NM_001111.5(ADAR):c.593C>T (p.Ala198Val)
NM_001111.5(ADAR):c.595G>A (p.Val199Ile)
NM_001111.5(ADAR):c.599C>G (p.Ser200Cys)
NM_001111.5(ADAR):c.605A>G (p.Gln202Arg)
NM_001111.5(ADAR):c.615C>A (p.Asn205Lys) rs770367924
NM_001111.5(ADAR):c.621C>G (p.His207Gln)
NM_001111.5(ADAR):c.622A>G (p.Ser208Gly)
NM_001111.5(ADAR):c.629T>A (p.Val210Glu)
NM_001111.5(ADAR):c.640G>A (p.Asp214Asn)
NM_001111.5(ADAR):c.641A>G (p.Asp214Gly) rs2101642759
NM_001111.5(ADAR):c.643G>C (p.Gly215Arg)
NM_001111.5(ADAR):c.643_789del (p.Gly215_Asp263del) rs2101641836
NM_001111.5(ADAR):c.651C>G (p.Ser217Arg)
NM_001111.5(ADAR):c.658G>A (p.Ala220Thr)
NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
NM_001111.5(ADAR):c.672C>A (p.Asp224Glu)
NM_001111.5(ADAR):c.673C>T (p.Pro225Ser) rs759905537
NM_001111.5(ADAR):c.674C>T (p.Pro225Leu)
NM_001111.5(ADAR):c.677G>A (p.Ser226Asn)
NM_001111.5(ADAR):c.686C>G (p.Pro229Arg)
NM_001111.5(ADAR):c.694A>G (p.Arg232Gly)
NM_001111.5(ADAR):c.701C>A (p.Ser234Tyr) rs769223848
NM_001111.5(ADAR):c.718G>C (p.Asp240His) rs1374526080
NM_001111.5(ADAR):c.721C>T (p.Leu241Phe)
NM_001111.5(ADAR):c.721CTT[1] (p.Leu242del)
NM_001111.5(ADAR):c.722T>G (p.Leu241Arg)
NM_001111.5(ADAR):c.734T>C (p.Phe245Ser)
NM_001111.5(ADAR):c.737T>G (p.Ile246Ser)
NM_001111.5(ADAR):c.739G>A (p.Ala247Thr) rs886045344
NM_001111.5(ADAR):c.73C>T (p.Leu25Phe)
NM_001111.5(ADAR):c.749C>T (p.Ala250Val)
NM_001111.5(ADAR):c.751C>G (p.Gln251Glu) rs777881995
NM_001111.5(ADAR):c.769A>C (p.Ser257Arg)
NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)
NM_001111.5(ADAR):c.779T>A (p.Val260Glu)
NM_001111.5(ADAR):c.785C>T (p.Pro262Leu)
NM_001111.5(ADAR):c.790A>G (p.Ser264Gly) rs1451687174
NM_001111.5(ADAR):c.792T>G (p.Ser264Arg)
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala) rs1313399962
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser) rs1313399962
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
NM_001111.5(ADAR):c.811A>G (p.Asn271Asp) rs1223076895
NM_001111.5(ADAR):c.823G>T (p.Gly275Cys) rs867384981
NM_001111.5(ADAR):c.824G>A (p.Gly275Asp)
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436
NM_001111.5(ADAR):c.851C>T (p.Thr284Ile)
NM_001111.5(ADAR):c.865G>C (p.Asp289His)
NM_001111.5(ADAR):c.866A>G (p.Asp289Gly) rs1697896792
NM_001111.5(ADAR):c.867T>G (p.Asp289Glu)
NM_001111.5(ADAR):c.879T>G (p.Phe293Leu)
NM_001111.5(ADAR):c.89C>G (p.Pro30Arg) rs2101645907
NM_001111.5(ADAR):c.906A>T (p.Lys302Asn)
NM_001111.5(ADAR):c.915C>G (p.Asp305Glu)
NM_001111.5(ADAR):c.925A>G (p.Asn309Asp)
NM_001111.5(ADAR):c.926A>G (p.Asn309Ser)
NM_001111.5(ADAR):c.931T>A (p.Ser311Thr) rs1697893231
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.946C>G (p.Leu316Val)
NM_001111.5(ADAR):c.947T>C (p.Leu316Pro)
NM_001111.5(ADAR):c.968G>A (p.Gly323Asp)
NM_001111.5(ADAR):c.988A>G (p.Ile330Val) rs2101640846
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228
NM_001122681.2(SH3BP2):c.*1401C>T rs886059363
NM_001122681.2(SH3BP2):c.*2353CT[1] rs886059365
NM_001122681.2(SH3BP2):c.*2574G>A rs886059367
NM_001122681.2(SH3BP2):c.*2665C>G rs886059368
NM_001122681.2(SH3BP2):c.*3132TCT[1] rs753767983
NM_001122681.2(SH3BP2):c.*3220T>C rs886059373
NM_001122681.2(SH3BP2):c.*3911C>T rs886059378
NM_001122681.2(SH3BP2):c.*415G>A rs886059360
NM_001122681.2(SH3BP2):c.*4329_*4330del rs571870071
NM_001122681.2(SH3BP2):c.*4817_*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] rs886059381
NM_001122681.2(SH3BP2):c.*5496A>T rs886059382
NM_001122681.2(SH3BP2):c.*5613C>T rs886059384
NM_001122681.2(SH3BP2):c.*5738dup rs1553809216
NM_001122681.2(SH3BP2):c.*618G>A rs886059361
NM_001122681.2(SH3BP2):c.*6419_*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6580del rs886059389
NM_001122681.2(SH3BP2):c.*6928T>C rs886059391
NM_001122681.2(SH3BP2):c.*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167dup rs566926916
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn)
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala) rs1317170986
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro) rs1274772239
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser)
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg) rs762177276
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp)
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val) rs1016515984
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val)
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser)
NM_001122681.2(SH3BP2):c.1103C>T (p.Pro368Leu) rs781072584
NM_001122681.2(SH3BP2):c.1103del (p.Pro368fs) rs1560111269
NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg)
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr)
NM_001122681.2(SH3BP2):c.1120C>T (p.Pro374Ser) rs2108739211
NM_001122681.2(SH3BP2):c.112G>A (p.Gly38Ser) rs773829474
NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg)
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser) rs1724895905
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu) rs1724896293
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs) rs759199606
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly)
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del) rs1303791404
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu)
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu)
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro)
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu)
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala) rs2108739303
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser)
NM_001122681.2(SH3BP2):c.1178C>T (p.Pro393Leu) rs1724900397
NM_001122681.2(SH3BP2):c.1184C>T (p.Ala395Val) rs777927746
NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val)
NM_001122681.2(SH3BP2):c.1190C>G (p.Ala397Gly) rs527342066
NM_001122681.2(SH3BP2):c.1205T>G (p.Leu402Arg) rs1724903131
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu)
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu)
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) rs121909149
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala)
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs) rs752422406
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp)
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) rs28938171
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro)
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter)
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs) rs1724988286
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg) rs972728940
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr) rs1486769271
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His)
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) rs886059357
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser)
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val)
NM_001122681.2(SH3BP2):c.1326C>A (p.Asp442Glu) rs761864704
NM_001122681.2(SH3BP2):c.1330T>A (p.Ser444Thr) rs1724992271
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His)
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser) rs1291034009
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe)
NM_001122681.2(SH3BP2):c.136+5G>A
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys) rs1322292807
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)
NM_001122681.2(SH3BP2):c.1406+2T>A rs2108741609
NM_001122681.2(SH3BP2):c.1406+6C>T
NM_001122681.2(SH3BP2):c.1418C>G (p.Ala473Gly) rs2108742009
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile) rs746860671
NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg)
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly)
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp) rs2108742039
NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala)
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg) rs565191421
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro)
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly)
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val) rs2108742062
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter)
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys)
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe) rs144577122
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg)
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn) rs2108742930
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met)
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly) rs2108742933
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=)
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu)
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile)
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln)
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His) rs1030615203
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg)
NM_001122681.2(SH3BP2):c.1654C>G (p.Arg552Gly) rs151048521
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) rs151048521
NM_001122681.2(SH3BP2):c.1661C>G (p.Pro554Arg) rs1725134312
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu)
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu)
NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr)
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile)
NM_001122681.2(SH3BP2):c.17del (p.Met6fs) rs746804160
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile)
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr) rs2108728412
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser)
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg)
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala)
NM_001122681.2(SH3BP2):c.240-1G>A rs1560106586
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu)
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln)
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=)
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu) rs1278859289
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn)
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr)
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr) rs1484027719
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met)
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu)
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val)
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys) rs1724499985
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe)
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys) rs749467680
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser)
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC rs1326878343
NM_001122681.2(SH3BP2):c.357+6_357+7del
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn)
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg)
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln)
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn) rs1577360228
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) rs886059355
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu)
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu)
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu)
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn) rs1724717798
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs) rs2108735375
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu) rs773270775
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg)
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs) rs2108735431
NM_001122681.2(SH3BP2):c.566C>G (p.Pro189Arg) rs147001821
NM_001122681.2(SH3BP2):c.566C>T (p.Pro189Leu) rs147001821
NM_001122681.2(SH3BP2):c.568G>A (p.Glu190Lys) rs761070963
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala)
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr)
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly) rs2108738351
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser)
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu) rs2108738398
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser)
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His)
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs)
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln)
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu)
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu) rs1724859262
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser)
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln)
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu) rs2108738526
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg)
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg) rs1724253944
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val)
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val)
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys) rs1308552287
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys)
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp) rs539765774
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr)
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile)
NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr)
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His)
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg) rs760547264
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln)
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn)
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly)
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu)
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln) rs766045804
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) rs757550176
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly)
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn)
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu)
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val)
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu)
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr)
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly) rs1724884429
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del)
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val) rs2108739016
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile)
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys)
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys)
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-142G>A rs951500465
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile) rs2112471039
NM_001127671.2(LIFR):c.148C>T (p.Pro50Ser) rs1475409463
NM_001127671.2(LIFR):c.1547T>C (p.Phe516Ser) rs766255111
NM_001127671.2(LIFR):c.1960A>G (p.Thr654Ala) rs2112417469
NM_001127671.2(LIFR):c.47A>G (p.Asp16Gly) rs2112571297
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001142279.2(RNASEH2B):c.-293A>G rs1879223372
NM_001142279.2(RNASEH2B):c.-294C>T rs1879223150
NM_001142279.2(RNASEH2B):c.-313C>G rs886050287
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
NM_001171.5(ABCC6):c.144_795-3del
NM_001171.5(ABCC6):c.220_222del rs72664225
NM_001171.5(ABCC6):c.2996-1724_4209-478del
NM_001171.5(ABCC6):c.2996-?_4208+?del
NM_001171.5(ABCC6):c.3307-?_3735+?del
NM_001171.5(ABCC6):c.3307-?_3882+?del
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro) rs1555518390
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn) rs72653763
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser) rs778544828
NM_001171.6(ABCC6):c.11C>A (p.Pro4His) rs1555523872
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala) rs72653765
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro) rs67996819
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr) rs1555515781
NM_001171.6(ABCC6):c.1432-22C>A rs72664297
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro) rs1555514945
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met) rs72653771
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp) rs1555514899
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro) rs774648925
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.1780-2A>G rs1555514089
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu) rs761433545
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp) rs72657696
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val) rs1555513604
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg) rs72653779
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly) rs1555513103
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.6(ABCC6):c.2248-12_2248-11del rs111113623
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys) rs1555512420
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly) rs72653793
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro) rs1555512158
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=) rs72664285
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=) rs749125777
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile) rs72653801
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro) rs1555510407
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys) rs72657690
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) rs1555510357
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) rs368465318
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro) rs1555509515
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu) rs1555509485
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser) rs1555509477
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro) rs72657695
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro) rs369518454
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3307-1006_3883-1050del
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA rs1555508993
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly) rs772050759
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp) rs63750607
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile) rs63750125
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.37-21_37-12del rs1555523540
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His) rs63749992
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys) rs63750209
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del) rs74315128
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys) rs63750625
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del) rs72664235
NM_001171.6(ABCC6):c.3883-10C>G rs965791272
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) rs63750992
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) rs766105758
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) rs63750622
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) rs72664288
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) rs63750798
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) rs63750295
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) rs72664289
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) rs1462269230
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) rs63750763
NM_001171.6(ABCC6):c.4403+11C>G rs72664215
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) rs72664281
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg) rs72657697
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser) rs1235912910
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg) rs1555520136
NM_001171.6(ABCC6):c.795-131_795-3del rs1555518941
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs) rs74315139
NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser) rs772588647
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala) rs150803413
NM_001199138.2(NLRC4):c.-10A>T rs2148946288
NM_001199138.2(NLRC4):c.1+4_1+7del rs749477750
NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile) rs1553347334
NM_001199138.2(NLRC4):c.1025T>C (p.Val342Ala) rs1687057246
NM_001199138.2(NLRC4):c.1027A>G (p.Ile343Val)
NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile)
NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys) rs554864659
NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile)
NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe)
NM_001199138.2(NLRC4):c.1075_1076del (p.Gln359fs) rs757026903
NM_001199138.2(NLRC4):c.1094C>A (p.Thr365Asn)
NM_001199138.2(NLRC4):c.1099T>C (p.Tyr367His) rs1687055386
NM_001199138.2(NLRC4):c.1128C>G (p.His376Gln)
NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile) rs1687104483
NM_001199138.2(NLRC4):c.1133A>G (p.His378Arg)
NM_001199138.2(NLRC4):c.1147G>C (p.Ala383Pro) rs1687053851
NM_001199138.2(NLRC4):c.114A>G (p.Val38=) rs2148943842
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=) rs2148942481
NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn)
NM_001199138.2(NLRC4):c.1175A>G (p.His392Arg) rs2148942468
NM_001199138.2(NLRC4):c.1183G>T (p.Asp395Tyr) rs2148942460
NM_001199138.2(NLRC4):c.1195G>A (p.Glu399Lys)
NM_001199138.2(NLRC4):c.1203_1204del (p.Phe402fs)
NM_001199138.2(NLRC4):c.1214A>G (p.Lys405Arg) rs1687051722
NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro) rs763562442
NM_001199138.2(NLRC4):c.1232A>C (p.Gln411Pro)
NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr)
NM_001199138.2(NLRC4):c.124T>C (p.Cys42Arg) rs1348244052
NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys)
NM_001199138.2(NLRC4):c.1256A>C (p.Asp419Ala)
NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu)
NM_001199138.2(NLRC4):c.1270A>C (p.Thr424Pro)
NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile) rs1558457501
NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr)
NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser) rs2148942356
NM_001199138.2(NLRC4):c.1309C>A (p.Pro437Thr)
NM_001199138.2(NLRC4):c.1321T>C (p.Phe441Leu)
NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg)
NM_001199138.2(NLRC4):c.1360A>T (p.Arg454Ter)
NM_001199138.2(NLRC4):c.1364T>G (p.Leu455Arg)
NM_001199138.2(NLRC4):c.1367G>A (p.Ser456Asn)
NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr)
NM_001199138.2(NLRC4):c.1395G>C (p.Glu465Asp)
NM_001199138.2(NLRC4):c.139G>A (p.Glu47Lys) rs2148943822
NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs) rs1416370111
NM_001199138.2(NLRC4):c.1432G>C (p.Val478Leu)
NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del) rs1687045453
NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His)
NM_001199138.2(NLRC4):c.1456A>G (p.Thr486Ala) rs2148942244
NM_001199138.2(NLRC4):c.1460A>G (p.Tyr487Cys)
NM_001199138.2(NLRC4):c.1466G>T (p.Ser489Ile)
NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp) rs1317272776
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=) rs952121500
NM_001199138.2(NLRC4):c.1488del (p.Ser497fs) rs1687043849
NM_001199138.2(NLRC4):c.1531G>A (p.Ala511Thr) rs762082592
NM_001199138.2(NLRC4):c.1535T>C (p.Val512Ala) rs1687041724
NM_001199138.2(NLRC4):c.1541A>C (p.Gln514Pro)
NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr)
NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter) rs1687040860
NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=)
NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg)
NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe)
NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=) rs758432190
NM_001199138.2(NLRC4):c.1573A>G (p.Lys525Glu)
NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn)
NM_001199138.2(NLRC4):c.1585_1586del (p.Trp529fs) rs2148942101
NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala)
NM_001199138.2(NLRC4):c.1616del (p.Asn539fs) rs760634156
NM_001199138.2(NLRC4):c.1621A>G (p.Thr541Ala) rs1687038730
NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys) rs760757972
NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly)
NM_001199138.2(NLRC4):c.1625A>T (p.Glu542Val) rs1319552496
NM_001199138.2(NLRC4):c.1637T>G (p.Leu546Arg)
NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val) rs781002536
NM_001199138.2(NLRC4):c.1661T>C (p.Phe554Ser) rs1687037053
NM_001199138.2(NLRC4):c.1664T>C (p.Val555Ala)
NM_001199138.2(NLRC4):c.1680T>G (p.His560Gln)
NM_001199138.2(NLRC4):c.1683A>C (p.Leu561Phe) rs148632046
NM_001199138.2(NLRC4):c.1685A>G (p.Tyr562Cys)
NM_001199138.2(NLRC4):c.1699T>C (p.Ser567Pro)
NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu)
NM_001199138.2(NLRC4):c.1711C>G (p.Leu571Val)
NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser) rs2148941971
NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu) rs1558456920
NM_001199138.2(NLRC4):c.1738C>G (p.Gln580Glu) rs1687034472
NM_001199138.2(NLRC4):c.1739A>C (p.Gln580Pro)
NM_001199138.2(NLRC4):c.1751del (p.Leu584fs) rs1288231359
NM_001199138.2(NLRC4):c.1754A>C (p.Tyr585Ser) rs763410160
NM_001199138.2(NLRC4):c.1754A>T (p.Tyr585Phe)
NM_001199138.2(NLRC4):c.1757T>C (p.Ile586Thr)
NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs)
NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn)
NM_001199138.2(NLRC4):c.1778A>G (p.Asp593Gly) rs2148941919
NM_001199138.2(NLRC4):c.1779T>G (p.Asp593Glu)
NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter)
NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys)
NM_001199138.2(NLRC4):c.1824_1825delinsTG (p.Leu609Val) rs2148941868
NM_001199138.2(NLRC4):c.182del (p.Lys61fs)
NM_001199138.2(NLRC4):c.1835T>C (p.Ile612Thr)
NM_001199138.2(NLRC4):c.1852G>A (p.Gly618Arg)
NM_001199138.2(NLRC4):c.185G>A (p.Gly62Asp) rs1687101729
NM_001199138.2(NLRC4):c.1861A>G (p.Met621Val)
NM_001199138.2(NLRC4):c.1874A>G (p.Glu625Gly)
NM_001199138.2(NLRC4):c.1877del (p.Lys626fs) rs1359892249
NM_001199138.2(NLRC4):c.1879G>A (p.Ala627Thr)
NM_001199138.2(NLRC4):c.1893del (p.Gly632fs)
NM_001199138.2(NLRC4):c.1894G>A (p.Gly632Ser)
NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp)
NM_001199138.2(NLRC4):c.1897_1899dup (p.Gly633_Ile634insGly)
NM_001199138.2(NLRC4):c.1918C>T (p.Pro640Ser) rs1687028070
NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn)
NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser)
NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu) rs751650141
NM_001199138.2(NLRC4):c.1941G>T (p.Arg647Ser)
NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser)
NM_001199138.2(NLRC4):c.195C>A (p.Ser65=) rs373028116
NM_001199138.2(NLRC4):c.1978A>G (p.Arg660Gly) rs1687025755
NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile)
NM_001199138.2(NLRC4):c.2021A>C (p.Lys674Thr)
NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn)
NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His)
NM_001199138.2(NLRC4):c.2037T>A (p.Tyr679Ter)
NM_001199138.2(NLRC4):c.2038C>G (p.Leu680Val)
NM_001199138.2(NLRC4):c.2041G>C (p.Gly681Arg) rs2148941693
NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs) rs1573492018
NM_001199138.2(NLRC4):c.2071A>G (p.Arg691Gly) rs2148941671
NM_001199138.2(NLRC4):c.2089T>A (p.Cys697Ser)
NM_001199138.2(NLRC4):c.2089T>G (p.Cys697Gly) rs1573491986
NM_001199138.2(NLRC4):c.2099T>G (p.Val700Gly)
NM_001199138.2(NLRC4):c.2100G>A (p.Val700=) rs2148941641
NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu)
NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro)
NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn)
NM_001199138.2(NLRC4):c.213dup (p.Ser72fs) rs1369844308
NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala) rs1573491846
NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=) rs2148941535
NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys) rs145129525
NM_001199138.2(NLRC4):c.2200T>C (p.Ser734Pro)
NM_001199138.2(NLRC4):c.2204T>C (p.Val735Ala) rs2148941521
NM_001199138.2(NLRC4):c.2222T>C (p.Leu741Ser)
NM_001199138.2(NLRC4):c.2231A>G (p.His744Arg)
NM_001199138.2(NLRC4):c.2232T>G (p.His744Gln) rs745938557
NM_001199138.2(NLRC4):c.2244T>A (p.Asn748Lys)
NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln) rs147496633
NM_001199138.2(NLRC4):c.2263C>A (p.Leu755Met) rs746131286
NM_001199138.2(NLRC4):c.2302C>T (p.Leu768Phe)
NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg)
NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile)
NM_001199138.2(NLRC4):c.2326A>G (p.Asn776Asp)
NM_001199138.2(NLRC4):c.2334A>T (p.Glu778Asp)
NM_001199138.2(NLRC4):c.2351-8T>G
NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly)
NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val)
NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val) rs1573477687
NM_001199138.2(NLRC4):c.236C>T (p.Pro79Leu) rs1687099827
NM_001199138.2(NLRC4):c.2375A>G (p.Lys792Arg) rs753274448
NM_001199138.2(NLRC4):c.2375A>T (p.Lys792Met)
NM_001199138.2(NLRC4):c.2378T>C (p.Met793Thr) rs1558449800
NM_001199138.2(NLRC4):c.2386T>C (p.Phe796Leu) rs1686716523
NM_001199138.2(NLRC4):c.241T>C (p.Phe81Leu)
NM_001199138.2(NLRC4):c.2430_2433del (p.Asp809_Tyr810insTer) rs1686715407
NM_001199138.2(NLRC4):c.2434G>A (p.Val812Ile) rs756798541
NM_001199138.2(NLRC4):c.2443_2444del (p.Leu815fs) rs1254673382
NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly) rs755782497
NM_001199138.2(NLRC4):c.2450G>A (p.Ser817Asn)
NM_001199138.2(NLRC4):c.2458T>C (p.Cys820Arg) rs773132182
NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys) rs2148935058
NM_001199138.2(NLRC4):c.2474T>C (p.Ile825Thr) rs747331080
NM_001199138.2(NLRC4):c.2474T>G (p.Ile825Ser)
NM_001199138.2(NLRC4):c.2501C>T (p.Ala834Val)
NM_001199138.2(NLRC4):c.2522-7T>A rs763042587
NM_001199138.2(NLRC4):c.2533C>T (p.His845Tyr) rs761890286
NM_001199138.2(NLRC4):c.2545A>C (p.Lys849Gln)
NM_001199138.2(NLRC4):c.2552G>A (p.Ser851Asn)
NM_001199138.2(NLRC4):c.2560_2564del (p.Asp854fs) rs1026050125
NM_001199138.2(NLRC4):c.2582A>C (p.Glu861Ala) rs761293910
NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val)
NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe)
NM_001199138.2(NLRC4):c.2614+6A>G rs2148934086
NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn)
NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=)
NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn)
NM_001199138.2(NLRC4):c.261A>G (p.Gln87=) rs2148943725
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=) rs544474213
NM_001199138.2(NLRC4):c.2634_2642del (p.Glu879_Leu881del) rs2148933747
NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly)
NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr) rs2148933725
NM_001199138.2(NLRC4):c.2663G>A (p.Trp888Ter) rs1686652685
NM_001199138.2(NLRC4):c.2665G>A (p.Gly889Ser) rs2148933719
NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser) rs544969923
NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr)
NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala)
NM_001199138.2(NLRC4):c.2672_2674del (p.Asp891del) rs1217280032
NM_001199138.2(NLRC4):c.2678A>G (p.Gln893Arg)
NM_001199138.2(NLRC4):c.2680G>T (p.Gly894Cys) rs1686651887
NM_001199138.2(NLRC4):c.2713del (p.Glu905fs) rs2148933689
NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)
NM_001199138.2(NLRC4):c.271C>T (p.His91Tyr) rs1233211061
NM_001199138.2(NLRC4):c.272A>G (p.His91Arg) rs1351575026
NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter) rs1313800784
NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys) rs989100389
NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)
NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)
NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr)
NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs) rs2148927621
NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu)
NM_001199138.2(NLRC4):c.280T>C (p.Ser94Pro) rs2148943204
NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg) rs2148927586
NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)
NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)
NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile) rs2148927574
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=) rs1464438302
NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)
NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu) rs2148927531
NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg) rs1687079366
NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser)
NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp)
NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val) rs1558458628
NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)
NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile)
NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)
NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg) rs945779246
NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly) rs775671534
NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val)
NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His) rs1472895111
NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)
NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu) rs147896952
NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala) rs1573460915
NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met) rs1558441930
NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu)
NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile)
NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe) rs372904047
NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)
NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly) rs1573460670
NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu) rs772124793
NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)
NM_001199138.2(NLRC4):c.312T>G (p.Asp104Glu) rs779306819
NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn)
NM_001199138.2(NLRC4):c.324G>C (p.Leu108Phe)
NM_001199138.2(NLRC4):c.327_329del (p.His110del) rs1687078144
NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser)
NM_001199138.2(NLRC4):c.333C>G (p.Thr111=) rs747791260
NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro)
NM_001199138.2(NLRC4):c.371T>G (p.Ile124Ser) rs188120749
NM_001199138.2(NLRC4):c.374A>G (p.Asp125Gly)
NM_001199138.2(NLRC4):c.380T>A (p.Ile127Asn)
NM_001199138.2(NLRC4):c.380T>C (p.Ile127Thr) rs369074805
NM_001199138.2(NLRC4):c.416T>C (p.Leu139Pro)
NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu)
NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys)
NM_001199138.2(NLRC4):c.443G>T (p.Arg148Leu) rs377088692
NM_001199138.2(NLRC4):c.487A>G (p.Ser163Gly) rs1176561773
NM_001199138.2(NLRC4):c.489C>A (p.Ser163Arg) rs1415927391
NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg)
NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser) rs1558458397
NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser) rs1573495011
NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp)
NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala)
NM_001199138.2(NLRC4):c.541del (p.Arg181fs)
NM_001199138.2(NLRC4):c.542_543delinsAC (p.Arg181His) rs2148943042
NM_001199138.2(NLRC4):c.542_543delinsCC (p.Arg181Pro)
NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr) rs2148943021
NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg)
NM_001199138.2(NLRC4):c.570G>C (p.Lys190Asn) rs1427389272
NM_001199138.2(NLRC4):c.576G>C (p.Lys192Asn)
NM_001199138.2(NLRC4):c.591C>T (p.Phe197=)
NM_001199138.2(NLRC4):c.608T>A (p.Leu203His)
NM_001199138.2(NLRC4):c.610C>T (p.Arg204Cys) rs573520680
NM_001199138.2(NLRC4):c.612_613delinsAA (p.Leu205Ile)
NM_001199138.2(NLRC4):c.627G>C (p.Gln209His) rs1473947585
NM_001199138.2(NLRC4):c.628G>T (p.Gly210Cys) rs1183084195
NM_001199138.2(NLRC4):c.634C>G (p.Leu212Val)
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=) rs1474523535
NM_001199138.2(NLRC4):c.652G>A (p.Asp218Asn) rs1687068928
NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter) rs762280260
NM_001199138.2(NLRC4):c.679A>G (p.Ile227Val)
NM_001199138.2(NLRC4):c.705G>A (p.Met235Ile)
NM_001199138.2(NLRC4):c.719G>A (p.Arg240Gln)
NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile)
NM_001199138.2(NLRC4):c.733T>G (p.Phe245Val) rs979603097
NM_001199138.2(NLRC4):c.734T>A (p.Phe245Tyr) rs1687066883
NM_001199138.2(NLRC4):c.73G>A (p.Asp25Asn) rs2148943898
NM_001199138.2(NLRC4):c.740T>C (p.Leu247Pro)
NM_001199138.2(NLRC4):c.741_742insTTTTTTTTTTNNNNNNNNNNGGGAGACCGTGGAGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTTCTTTTCCTTCTT (p.Leu247_Asp248insPhePhePheXaaXaaXaaXaaGlyAspArgGlyGlyArgArgArgArgArgArgArgArgArgArgArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgValLeuPheLeuLeu)
NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser)
NM_001199138.2(NLRC4):c.773G>A (p.Cys258Tyr) rs2148942826
NM_001199138.2(NLRC4):c.784G>A (p.Glu262Lys)
NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr)
NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr)
NM_001199138.2(NLRC4):c.833C>T (p.Thr278Ile)
NM_001199138.2(NLRC4):c.839C>T (p.Thr280Ile)
NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala) rs769709902
NM_001199138.2(NLRC4):c.854G>A (p.Arg285Lys) rs1687062402
NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly) rs747147167
NM_001199138.2(NLRC4):c.862C>T (p.Arg288Trp)
NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile) rs2148942719
NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu) rs1573494293
NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu)
NM_001199138.2(NLRC4):c.8T>C (p.Phe3Ser) rs2148943940
NM_001199138.2(NLRC4):c.920C>T (p.Ala307Val)
NM_001199138.2(NLRC4):c.926T>A (p.Ile309Asn) rs1687060135
NM_001199138.2(NLRC4):c.944A>G (p.Lys315Arg) rs768275257
NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met)
NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro)
NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe)
NM_001199138.2(NLRC4):c.97C>G (p.Leu33Val) rs773645495
NM_001199397.3(NEK1):c.118-10C>T rs1330006018
NM_001199397.3(NEK1):c.1628A>G (p.Glu543Gly) rs2149814328
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001205.3(BNIP1):c.84+3A>T rs2113831423
NM_001242.5(CD27):c.37G>A (p.Gly13Arg) rs146726863
NM_001242.5(CD27):c.734T>A (p.Ile245Asn) rs2136971508
NM_001243133.2(NLRP3):c.*139T>G rs1664758254
NM_001243133.2(NLRP3):c.*2A>G rs1664748029
NM_001243133.2(NLRP3):c.-482dup rs144128307
NM_001243133.2(NLRP3):c.-523G>A rs1662192950
NM_001243133.2(NLRP3):c.-533C>G rs141994679
NM_001243133.2(NLRP3):c.1011G>C (p.Lys337Asn) rs766978634
NM_001243133.2(NLRP3):c.1016T>C (p.Leu339Pro)
NM_001243133.2(NLRP3):c.104G>T (p.Gly35Val)
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1054G>T (p.Ala352Ser)
NM_001243133.2(NLRP3):c.1057C>T (p.Leu353=) rs2103108898
NM_001243133.2(NLRP3):c.1064A>G (p.Lys355Arg) rs876660972
NM_001243133.2(NLRP3):c.1081G>A (p.Asp361Asn)
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) rs994458759
NM_001243133.2(NLRP3):c.1132G>A (p.Glu378Lys)
NM_001243133.2(NLRP3):c.113C>G (p.Pro38Arg)
NM_001243133.2(NLRP3):c.1140C>T (p.Phe380=) rs2103109353
NM_001243133.2(NLRP3):c.1153T>C (p.Ser385Pro) rs199680838
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001243133.2(NLRP3):c.1159G>A (p.Glu387Lys) rs1449410815
NM_001243133.2(NLRP3):c.1175C>A (p.Ala392Glu) rs1553286687
NM_001243133.2(NLRP3):c.1178C>G (p.Ala393Gly)
NM_001243133.2(NLRP3):c.118C>T (p.Pro40Ser) rs1662241543
NM_001243133.2(NLRP3):c.1190T>C (p.Ile397Thr) rs1003706636
NM_001243133.2(NLRP3):c.1222T>G (p.Phe408Val)
NM_001243133.2(NLRP3):c.1246G>A (p.Val416Met)
NM_001243133.2(NLRP3):c.1246G>T (p.Val416Leu)
NM_001243133.2(NLRP3):c.1274A>C (p.Glu425Ala)
NM_001243133.2(NLRP3):c.1277G>A (p.Ser426Asn)
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.1297A>T (p.Thr433Ser)
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.2(NLRP3):c.131C>G (p.Thr44Arg)
NM_001243133.2(NLRP3):c.1333del (p.Leu445fs)
NM_001243133.2(NLRP3):c.1364G>A (p.Ser455Asn)
NM_001243133.2(NLRP3):c.1365C>A (p.Ser455Arg) rs777985232
NM_001243133.2(NLRP3):c.1374C>A (p.His458Gln) rs180177481
NM_001243133.2(NLRP3):c.1374C>G (p.His458Gln)
NM_001243133.2(NLRP3):c.1376G>A (p.Gly459Asp)
NM_001243133.2(NLRP3):c.1376G>C (p.Gly459Ala) rs1662748039
NM_001243133.2(NLRP3):c.1382G>A (p.Cys461Tyr) rs764806756
NM_001243133.2(NLRP3):c.1387C>T (p.His463Tyr) rs766893777
NM_001243133.2(NLRP3):c.1402T>C (p.Cys468Arg) rs2103110741
NM_001243133.2(NLRP3):c.1406C>T (p.Ser469Phe)
NM_001243133.2(NLRP3):c.1415C>A (p.Ala472Glu)
NM_001243133.2(NLRP3):c.1426T>A (p.Trp476Arg)
NM_001243133.2(NLRP3):c.1437A>T (p.Lys479Asn)
NM_001243133.2(NLRP3):c.1456G>A (p.Asp486Asn)
NM_001243133.2(NLRP3):c.1462A>T (p.Arg488Trp)
NM_001243133.2(NLRP3):c.1465A>C (p.Asn489His)
NM_001243133.2(NLRP3):c.1467T>A (p.Asn489Lys) rs2103110971
NM_001243133.2(NLRP3):c.1478A>G (p.Gln493Arg) rs768582957
NM_001243133.2(NLRP3):c.1487A>T (p.Asp496Val) rs1662755558
NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)
NM_001243133.2(NLRP3):c.1508T>A (p.Met503Lys)
NM_001243133.2(NLRP3):c.1513C>A (p.Leu505Met)
NM_001243133.2(NLRP3):c.1537G>A (p.Glu513Lys)
NM_001243133.2(NLRP3):c.154C>G (p.Leu52Val) rs1475761802
NM_001243133.2(NLRP3):c.1552T>C (p.Phe518Leu) rs2103111336
NM_001243133.2(NLRP3):c.1592A>T (p.Tyr531Phe)
NM_001243133.2(NLRP3):c.1612A>G (p.Lys538Glu)
NM_001243133.2(NLRP3):c.1615G>C (p.Glu539Gln)
NM_001243133.2(NLRP3):c.1633C>G (p.Pro545Ala) rs200088340
NM_001243133.2(NLRP3):c.1670C>T (p.Thr557Ile)
NM_001243133.2(NLRP3):c.1675C>T (p.Leu559Phe)
NM_001243133.2(NLRP3):c.1677_1679del (p.Leu560del) rs2103112144
NM_001243133.2(NLRP3):c.1697T>A (p.Phe566Tyr) rs1572172789
NM_001243133.2(NLRP3):c.1711T>G (p.Leu571Val) rs1572172911
NM_001243133.2(NLRP3):c.1713G>T (p.Leu571Phe) rs180177489
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) rs1131691891
NM_001243133.2(NLRP3):c.1741C>G (p.Leu581Val) rs756111783
NM_001243133.2(NLRP3):c.1745T>A (p.Val582Glu)
NM_001243133.2(NLRP3):c.1775A>G (p.Lys592Arg)
NM_001243133.2(NLRP3):c.1777A>G (p.Lys593Glu)
NM_001243133.2(NLRP3):c.1795T>A (p.Ser599Thr) rs2103112632
NM_001243133.2(NLRP3):c.1796C>G (p.Ser599Cys)
NM_001243133.2(NLRP3):c.179A>G (p.Asn60Ser) rs2103084344
NM_001243133.2(NLRP3):c.1811T>A (p.Leu604Gln)
NM_001243133.2(NLRP3):c.1829T>C (p.Ile610Thr) rs1572173298
NM_001243133.2(NLRP3):c.1888T>C (p.Tyr630His)
NM_001243133.2(NLRP3):c.1889A>T (p.Tyr630Phe) rs1572173465
NM_001243133.2(NLRP3):c.1899C>G (p.Tyr633Ter) rs200089426
NM_001243133.2(NLRP3):c.1903A>T (p.Met635Leu) rs1176676245
NM_001243133.2(NLRP3):c.1904T>C (p.Met635Thr)
NM_001243133.2(NLRP3):c.1907A>G (p.Gln636Arg) rs1426037593
NM_001243133.2(NLRP3):c.1912G>A (p.Glu638Lys)
NM_001243133.2(NLRP3):c.1939T>A (p.Tyr647Asn) rs2103113246
NM_001243133.2(NLRP3):c.1944C>A (p.Phe648Leu) rs1230268213
NM_001243133.2(NLRP3):c.1946C>G (p.Pro649Arg) rs1662796733
NM_001243133.2(NLRP3):c.1946C>T (p.Pro649Leu) rs1662796733
NM_001243133.2(NLRP3):c.1966T>A (p.Ser656Thr)
NM_001243133.2(NLRP3):c.1970C>A (p.Thr657Asn) rs201875324
NM_001243133.2(NLRP3):c.1984A>G (p.Met662Val)
NM_001243133.2(NLRP3):c.1996T>G (p.Phe666Val) rs2103113519
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2017C>T (p.Arg673Trp)
NM_001243133.2(NLRP3):c.2029C>G (p.Leu677Val) rs2103113605
NM_001243133.2(NLRP3):c.2049T>G (p.His683Gln)
NM_001243133.2(NLRP3):c.2050A>G (p.Asn684Asp)
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys) rs180177495
NM_001243133.2(NLRP3):c.2071G>A (p.Glu691Lys)
NM_001243133.2(NLRP3):c.2082G>C (p.Lys694Asn) rs2103113800
NM_001243133.2(NLRP3):c.208G>C (p.Val70Leu) rs117287351
NM_001243133.2(NLRP3):c.2090G>A (p.Arg697Gln)
NM_001243133.2(NLRP3):c.2101A>G (p.Met701Val)
NM_001243133.2(NLRP3):c.2105T>G (p.Val702Gly)
NM_001243133.2(NLRP3):c.2132A>C (p.His711Pro)
NM_001243133.2(NLRP3):c.2132A>T (p.His711Leu) rs767805817
NM_001243133.2(NLRP3):c.2150+6_2150+7delinsTT rs2103114278
NM_001243133.2(NLRP3):c.2151-6T>A
NM_001243133.2(NLRP3):c.2155G>A (p.Val719Met)
NM_001243133.2(NLRP3):c.2159A>C (p.Asn720Thr) rs1663161123
NM_001243133.2(NLRP3):c.215T>A (p.Ile72Asn)
NM_001243133.2(NLRP3):c.2167C>A (p.Leu723Ile) rs2103132240
NM_001243133.2(NLRP3):c.2185C>T (p.Arg729Trp)
NM_001243133.2(NLRP3):c.2206A>C (p.Ser736Arg)
NM_001243133.2(NLRP3):c.2214C>A (p.Ser738Arg) rs183128734
NM_001243133.2(NLRP3):c.2214C>G (p.Ser738Arg)
NM_001243133.2(NLRP3):c.2219G>A (p.Ser740Asn) rs200371066
NM_001243133.2(NLRP3):c.2236C>T (p.Leu746Phe)
NM_001243133.2(NLRP3):c.2239A>C (p.Ser747Arg)
NM_001243133.2(NLRP3):c.2248T>C (p.Ser750Pro) rs2103132559
NM_001243133.2(NLRP3):c.224C>A (p.Ala75Glu) rs200288250
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu) rs1305028279
NM_001243133.2(NLRP3):c.2257G>A (p.Asp753Asn)
NM_001243133.2(NLRP3):c.2270G>A (p.Arg757Lys) rs201466599
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2311C>A (p.Arg771=) rs757698137
NM_001243133.2(NLRP3):c.2311C>T (p.Arg771Trp)
NM_001243133.2(NLRP3):c.2323T>A (p.Leu775Met)
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) rs201969526
NM_001243133.2(NLRP3):c.234G>C (p.Arg78Ser)
NM_001243133.2(NLRP3):c.2358C>A (p.Phe786Leu)
NM_001243133.2(NLRP3):c.2371G>T (p.Val791Phe)
NM_001243133.2(NLRP3):c.2377A>T (p.Ser793Cys)
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) rs2103162880
NM_001243133.2(NLRP3):c.2392C>G (p.Leu798Val)
NM_001243133.2(NLRP3):c.2399A>T (p.Glu800Val)
NM_001243133.2(NLRP3):c.2405A>G (p.Asp802Gly)
NM_001243133.2(NLRP3):c.2420C>A (p.Ala807Asp)
NM_001243133.2(NLRP3):c.2428G>A (p.Asp810Asn)
NM_001243133.2(NLRP3):c.2435G>C (p.Gly812Ala)
NM_001243133.2(NLRP3):c.2452G>T (p.Val818Leu)
NM_001243133.2(NLRP3):c.2459T>C (p.Leu820Pro)
NM_001243133.2(NLRP3):c.2488C>G (p.Leu830Val)
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) rs1351993448
NM_001243133.2(NLRP3):c.2510T>C (p.Leu837Pro)
NM_001243133.2(NLRP3):c.2521T>G (p.Cys841Gly) rs2103173487
NM_001243133.2(NLRP3):c.2525G>T (p.Cys842Phe) rs2103173520
NM_001243133.2(NLRP3):c.2551A>G (p.Thr851Ala)
NM_001243133.2(NLRP3):c.2552C>T (p.Thr851Ile)
NM_001243133.2(NLRP3):c.2567C>A (p.Thr856Asn) rs2103173891
NM_001243133.2(NLRP3):c.2570G>A (p.Arg857Lys)
NM_001243133.2(NLRP3):c.2576A>C (p.Tyr859Ser) rs180177452
NM_001243133.2(NLRP3):c.2578G>A (p.Val860Met) rs2103174115
NM_001243133.2(NLRP3):c.260G>A (p.Arg87Lys)
NM_001243133.2(NLRP3):c.2610C>T (p.Val870=) rs140618467
NM_001243133.2(NLRP3):c.2618T>A (p.Leu873Ter)
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu) rs1057515488
NM_001243133.2(NLRP3):c.2638C>T (p.Pro880Ser) rs1663776046
NM_001243133.2(NLRP3):c.2663+1G>C
NM_001243133.2(NLRP3):c.2664-3C>T
NM_001243133.2(NLRP3):c.2664G>T (p.Gly888=)
NM_001243133.2(NLRP3):c.2667G>T (p.Leu889Phe)
NM_001243133.2(NLRP3):c.2669T>C (p.Val890Ala)
NM_001243133.2(NLRP3):c.2678G>C (p.Gly893Ala)
NM_001243133.2(NLRP3):c.2684C>A (p.Thr895Lys)
NM_001243133.2(NLRP3):c.2702C>A (p.Ala901Asp)
NM_001243133.2(NLRP3):c.2702C>T (p.Ala901Val)
NM_001243133.2(NLRP3):c.2711C>T (p.Ser904Leu)
NM_001243133.2(NLRP3):c.2725A>G (p.Asn909Asp) rs1297130802
NM_001243133.2(NLRP3):c.2742C>A (p.His914Gln)
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln) rs1553293095
NM_001243133.2(NLRP3):c.2756G>A (p.Gly919Asp) rs2103233129
NM_001243133.2(NLRP3):c.2767G>C (p.Gly923Arg)
NM_001243133.2(NLRP3):c.2772C>G (p.Asp924Glu) rs2103233246
NM_001243133.2(NLRP3):c.2774A>C (p.Lys925Thr)
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2804T>G (p.Leu935Trp)
NM_001243133.2(NLRP3):c.2822T>C (p.Leu941Pro)
NM_001243133.2(NLRP3):c.2829G>A (p.Val943=)
NM_001243133.2(NLRP3):c.2834+1G>A rs1572228102
NM_001243133.2(NLRP3):c.2841C>A (p.Asp947Glu) rs1459653470
NM_001243133.2(NLRP3):c.2841C>T (p.Asp947=)
NM_001243133.2(NLRP3):c.2860C>T (p.His954Tyr)
NM_001243133.2(NLRP3):c.2878T>A (p.Ser960Thr)
NM_001243133.2(NLRP3):c.2878_2886del (p.Ser960_Leu962del)
NM_001243133.2(NLRP3):c.2884C>T (p.Leu962Phe)
NM_001243133.2(NLRP3):c.2893T>A (p.Ser965Thr)
NM_001243133.2(NLRP3):c.2901G>C (p.Gln967His)
NM_001243133.2(NLRP3):c.2904C>A (p.Ser968Arg)
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) rs1450171900
NM_001243133.2(NLRP3):c.2909G>A (p.Arg970Gln)
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly) rs375013904
NM_001243133.2(NLRP3):c.292C>T (p.Arg98Cys) rs375013904
NM_001243133.2(NLRP3):c.2944C>G (p.Leu982Val) rs1572229891
NM_001243133.2(NLRP3):c.2945T>G (p.Leu982Arg)
NM_001243133.2(NLRP3):c.2946G>A (p.Leu982=)
NM_001243133.2(NLRP3):c.2950G>A (p.Val984Ile)
NM_001243133.2(NLRP3):c.2987_3001dup (p.Asn1000_Leu1001insArgLeuLeuGlnAsn)
NM_001243133.2(NLRP3):c.3011C>T (p.Ser1004Phe)
NM_001243133.2(NLRP3):c.3013G>T (p.Glu1005Ter) rs1222702587
NM_001243133.2(NLRP3):c.3029A>C (p.Tyr1010Ser)
NM_001243133.2(NLRP3):c.302A>G (p.Asn101Ser)
NM_001243133.2(NLRP3):c.303T>A (p.Asn101Lys) rs1572165308
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=) rs1057515489
NM_001243133.2(NLRP3):c.3044C>T (p.Ala1015Val) rs2103261687
NM_001243133.2(NLRP3):c.3091G>C (p.Glu1031Gln) rs1572239975
NM_001243133.2(NLRP3):c.3095C>A (p.Pro1032His) rs2103261854
NM_001243133.2(NLRP3):c.346A>T (p.Met116Leu)
NM_001243133.2(NLRP3):c.348G>A (p.Met116Ile)
NM_001243133.2(NLRP3):c.349G>A (p.Gly117Ser)
NM_001243133.2(NLRP3):c.358G>T (p.Glu120Ter) rs868381519
NM_001243133.2(NLRP3):c.379A>G (p.Ile127Val)
NM_001243133.2(NLRP3):c.397+5G>A rs1232636611
NM_001243133.2(NLRP3):c.397+5G>T rs1232636611
NM_001243133.2(NLRP3):c.411G>T (p.Lys137Asn) rs1572167035
NM_001243133.2(NLRP3):c.419A>G (p.Lys140Arg) rs2103105213
NM_001243133.2(NLRP3):c.423C>G (p.Tyr141Ter)
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
NM_001243133.2(NLRP3):c.442T>G (p.Cys148Gly) rs1662655784
NM_001243133.2(NLRP3):c.463C>T (p.Arg155Cys)
NM_001243133.2(NLRP3):c.490A>G (p.Lys164Glu)
NM_001243133.2(NLRP3):c.523C>T (p.His175Tyr) rs1662663283
NM_001243133.2(NLRP3):c.530G>A (p.Ser177Asn) rs1019344995
NM_001243133.2(NLRP3):c.540G>T (p.Glu180Asp)
NM_001243133.2(NLRP3):c.545A>T (p.Glu182Val)
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) rs147631017
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser) rs201877163
NM_001243133.2(NLRP3):c.575A>G (p.Lys192Arg) rs2103105985
NM_001243133.2(NLRP3):c.608T>C (p.Met203Thr) rs2103106207
NM_001243133.2(NLRP3):c.610G>A (p.Glu204Lys) rs1558189985
NM_001243133.2(NLRP3):c.623A>G (p.Asp208Gly)
NM_001243133.2(NLRP3):c.632A>G (p.Asp211Gly) rs1338960862
NM_001243133.2(NLRP3):c.641C>A (p.Ser214Tyr)
NM_001243133.2(NLRP3):c.644A>G (p.Glu215Gly) rs2103106447
NM_001243133.2(NLRP3):c.692C>T (p.Thr231Ile)
NM_001243133.2(NLRP3):c.700G>A (p.Ala234Thr)
NM_001243133.2(NLRP3):c.715T>A (p.Leu239Met) rs1395728949
NM_001243133.2(NLRP3):c.724_725delinsAA (p.Ala242Lys)
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) rs876660971
NM_001243133.2(NLRP3):c.745G>C (p.Asp249His)
NM_001243133.2(NLRP3):c.763_764del (p.Phe255fs) rs1572168726
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001243133.2(NLRP3):c.779_780delinsAG (p.Arg260Gln)
NM_001243133.2(NLRP3):c.779_780delinsTG (p.Arg260Leu)
NM_001243133.2(NLRP3):c.793G>A (p.Val265Met)
NM_001243133.2(NLRP3):c.79T>G (p.Leu27Val)
NM_001243133.2(NLRP3):c.800A>G (p.Gln267Arg)
NM_001243133.2(NLRP3):c.817C>G (p.Leu273Val)
NM_001243133.2(NLRP3):c.838G>A (p.Asp280Asn)
NM_001243133.2(NLRP3):c.842C>T (p.Pro281Leu)
NM_001243133.2(NLRP3):c.848C>T (p.Pro283Leu) rs1572169138
NM_001243133.2(NLRP3):c.859A>G (p.Lys287Glu)
NM_001243133.2(NLRP3):c.865G>T (p.Val289Leu)
NM_001243133.2(NLRP3):c.881G>A (p.Arg294Lys) rs1662697946
NM_001243133.2(NLRP3):c.895A>G (p.Met299Val) rs180177494
NM_001243133.2(NLRP3):c.898G>C (p.Asp300His) rs1662700271
NM_001243133.2(NLRP3):c.912G>C (p.Glu304Asp) rs1572169394
NM_001243133.2(NLRP3):c.91C>T (p.Pro31Ser)
NM_001243133.2(NLRP3):c.92C>T (p.Pro31Leu) rs2103083866
NM_001243133.2(NLRP3):c.937A>C (p.Ile313Leu)
NM_001243133.2(NLRP3):c.938T>C (p.Ile313Thr) rs1477164195
NM_001243133.2(NLRP3):c.940G>A (p.Gly314Arg)
NM_001243133.2(NLRP3):c.94C>T (p.Pro32Ser) rs1662238131
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu) rs1662708025
NM_001243133.2(NLRP3):c.968C>T (p.Ala323Val) rs1662708283
NM_001243133.2(NLRP3):c.970G>A (p.Glu324Lys)
NM_001243133.2(NLRP3):c.974G>A (p.Arg325Gln)
NM_001243133.2(NLRP3):c.977G>C (p.Gly326Ala)
NM_001243133.2(NLRP3):c.977G>T (p.Gly326Val) rs180177456
NM_001243133.2(NLRP3):c.985C>G (p.Leu329Val)
NM_001270508.2(TNFAIP3):c.1102C>T (p.His368Tyr)
NM_001270508.2(TNFAIP3):c.113A>G (p.His38Arg)
NM_001270508.2(TNFAIP3):c.1474A>C (p.Asn492His)
NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg) rs762149390
NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=) rs201052251
NM_001270508.2(TNFAIP3):c.181C>T (p.Arg61Trp)
NM_001270508.2(TNFAIP3):c.2137A>G (p.Arg713Gly)
NM_001270508.2(TNFAIP3):c.2149G>A (p.Ala717Thr)
NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile) rs1776060477
NM_001270508.2(TNFAIP3):c.260G>A (p.Arg87Gln)
NM_001270508.2(TNFAIP3):c.547C>G (p.Arg183Gly) rs1423560438
NM_001270508.2(TNFAIP3):c.649A>C (p.Ser217Arg)
NM_001270508.2(TNFAIP3):c.872T>G (p.Leu291Trp)
NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu) rs756723486
NM_001270508.2(TNFAIP3):c.980C>T (p.Ala327Val) rs1210641937
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
NM_001282225.2(ADA2):c.1004A>C (p.His335Pro)
NM_001282225.2(ADA2):c.1018G>T (p.Ala340Ser) rs1601430690
NM_001282225.2(ADA2):c.101G>C (p.Arg34Pro)
NM_001282225.2(ADA2):c.1030C>T (p.Pro344Ser) rs2123633992
NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro) rs752798667
NM_001282225.2(ADA2):c.1039G>A (p.Asp347Asn) rs2123633860
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1097C>T (p.Ser366Phe) rs2123605324
NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val)
NM_001282225.2(ADA2):c.10G>T (p.Asp4Tyr) rs370257828
NM_001282225.2(ADA2):c.1111A>T (p.Ile371Phe) rs2061987911
NM_001282225.2(ADA2):c.1134C>A (p.Asn378Lys) rs763728425
NM_001282225.2(ADA2):c.1135A>T (p.Thr379Ser) rs561591791
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup) rs780690814
NM_001282225.2(ADA2):c.1146C>G (p.Ile382Met) rs776302859
NM_001282225.2(ADA2):c.115T>A (p.Leu39Met) rs538213260
NM_001282225.2(ADA2):c.1184G>A (p.Arg395Lys) rs2061986560
NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser) rs2061986476
NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr) rs757658203
NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser)
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1271A>G (p.His424Arg)
NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile) rs2123601456
NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser)
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)
NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly) rs777683953
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.1353G>T (p.Leu451Phe) rs2061973897
NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro) rs2123600965
NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala) rs748893301
NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met) rs138076444
NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala) rs140149634
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val) rs140149634
NM_001282225.2(ADA2):c.1442+3G>A
NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn) rs774795047
NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys) rs45497794
NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val)
NM_001282225.2(ADA2):c.151G>C (p.Val51Leu)
NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp)
NM_001282225.2(ADA2):c.179A>G (p.Asn60Ser) rs878901507
NM_001282225.2(ADA2):c.186G>T (p.Arg62Ser) rs1555887378
NM_001282225.2(ADA2):c.191T>G (p.Met64Arg)
NM_001282225.2(ADA2):c.226A>G (p.Arg76Gly) rs2123715454
NM_001282225.2(ADA2):c.22G>A (p.Glu8Lys) rs914839065
NM_001282225.2(ADA2):c.232C>T (p.Leu78=) rs757225675
NM_001282225.2(ADA2):c.235A>T (p.Ile79Leu) rs2123715420
NM_001282225.2(ADA2):c.250A>G (p.Met84Val)
NM_001282225.2(ADA2):c.253C>G (p.His85Asp)
NM_001282225.2(ADA2):c.264G>T (p.Gln88His) rs2123715335
NM_001282225.2(ADA2):c.266C>T (p.Ala89Val) rs548766340
NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln) rs766367978
NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr)
NM_001282225.2(ADA2):c.307A>T (p.Arg103Trp) rs1232757006
NM_001282225.2(ADA2):c.308G>A (p.Arg103Lys) rs1477354791
NM_001282225.2(ADA2):c.317C>G (p.Pro106Arg)
NM_001282225.2(ADA2):c.329C>T (p.Ala110Val)
NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile)
NM_001282225.2(ADA2):c.342T>G (p.His114Gln)
NM_001282225.2(ADA2):c.347T>C (p.Ile116Thr) rs2123709522
NM_001282225.2(ADA2):c.352A>C (p.Ile118Leu) rs2062364807
NM_001282225.2(ADA2):c.355G>A (p.Val119Met)
NM_001282225.2(ADA2):c.361A>G (p.Met121Val)
NM_001282225.2(ADA2):c.365A>T (p.Asp122Val)
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.397C>G (p.His133Asp) rs2062363420
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile) rs2062397306
NM_001282225.2(ADA2):c.410G>C (p.Cys137Ser) rs1019680311
NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala)
NM_001282225.2(ADA2):c.422G>A (p.Arg141Lys) rs756882787
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.446C>T (p.Ala149Val)
NM_001282225.2(ADA2):c.452C>T (p.Pro151Leu)
NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser)
NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro)
NM_001282225.2(ADA2):c.476G>A (p.Cys159Tyr) rs774636844
NM_001282225.2(ADA2):c.542+3G>A rs2123708613
NM_001282225.2(ADA2):c.542+4A>T
NM_001282225.2(ADA2):c.565G>T (p.Val189Leu)
NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys)
NM_001282225.2(ADA2):c.608T>C (p.Val203Ala) rs1340031421
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>A (p.Thr209Asn) rs781131295
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.635T>C (p.Phe212Ser) rs1268480139
NM_001282225.2(ADA2):c.640A>G (p.Ile214Val)
NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr)
NM_001282225.2(ADA2):c.662C>T (p.Ala221Val) rs2062318333
NM_001282225.2(ADA2):c.667G>C (p.Val223Leu) rs761537217
NM_001282225.2(ADA2):c.672C>A (p.Phe224Leu) rs2062317999
NM_001282225.2(ADA2):c.676G>A (p.Asp226Asn)
NM_001282225.2(ADA2):c.695T>C (p.Met232Thr) rs2123699502
NM_001282225.2(ADA2):c.713A>G (p.Asp238Gly)
NM_001282225.2(ADA2):c.718G>A (p.Val240Met) rs1239054063
NM_001282225.2(ADA2):c.724T>C (p.Tyr242His) rs1391989452
NM_001282225.2(ADA2):c.727A>G (p.Met243Val)
NM_001282225.2(ADA2):c.73G>A (p.Gly25Ser)
NM_001282225.2(ADA2):c.73G>T (p.Gly25Cys)
NM_001282225.2(ADA2):c.746T>G (p.Leu249Arg) rs757520466
NM_001282225.2(ADA2):c.758A>G (p.Tyr253Cys) rs1465951724
NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn)
NM_001282225.2(ADA2):c.780T>G (p.His260Gln)
NM_001282225.2(ADA2):c.784G>A (p.Glu262Lys) rs551968547
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505
NM_001282225.2(ADA2):c.827T>C (p.Phe276Ser) rs2123651469
NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu)
NM_001282225.2(ADA2):c.854G>A (p.Gly285Glu) rs2062117251
NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu)
NM_001282225.2(ADA2):c.874G>A (p.Asp292Asn) rs2123651243
NM_001282225.2(ADA2):c.882-3C>G rs2062095551
NM_001282225.2(ADA2):c.884C>T (p.Ser295Phe)
NM_001282225.2(ADA2):c.898G>C (p.Val300Leu)
NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr)
NM_001282225.2(ADA2):c.916C>G (p.Arg306Gly) rs774963498
NM_001282225.2(ADA2):c.91G>C (p.Asp31His) rs2123716097
NM_001282225.2(ADA2):c.926T>C (p.Met309Thr)
NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro) rs746970158
NM_001282225.2(ADA2):c.946C>T (p.Pro316Ser)
NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg)
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001282225.2(ADA2):c.967G>A (p.Asp323Asn) rs2123643865
NM_001282225.2(ADA2):c.972+6C>A rs764925030
NM_001282225.2(ADA2):c.973G>A (p.Val325Met)
NM_001282225.2(ADA2):c.977G>A (p.Gly326Glu) rs760228190
NM_001282225.2(ADA2):c.980A>C (p.His327Pro)
NM_001282225.2(ADA2):c.980A>G (p.His327Arg)
NM_001282225.2(ADA2):c.989C>G (p.Thr330Ser) rs2062065746
NM_001282225.2(ADA2):c.98C>T (p.Thr33Ile)
NM_001330360.2(POLA1):c.2018G>A (p.Arg673Gln)
NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp) rs1555973963
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs) rs864309498
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn) rs780336634
NM_001366385.1(CARD14):c.*165CA[2] rs201730862
NM_001366385.1(CARD14):c.1154T>G (p.Leu385Arg) rs2144267834
NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu) rs74951924
NM_001366385.1(CARD14):c.1329C>A (p.Ser443Arg) rs763493440
NM_001366385.1(CARD14):c.1356+8del rs2144281783
NM_001366385.1(CARD14):c.1590G>C (p.Thr530=) rs138100360
NM_001366385.1(CARD14):c.1865C>G (p.Ala622Gly) rs2144428625
NM_001366385.1(CARD14):c.1929C>T (p.Leu643=) rs2144430849
NM_001366385.1(CARD14):c.1979-4T>C rs2144447186
NM_001366385.1(CARD14):c.2153C>G (p.Ala718Gly) rs747104642
NM_001366385.1(CARD14):c.249C>T (p.Asn83=) rs148170776
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys) rs1196800518
NM_001366385.1(CARD14):c.2933T>C (p.Leu978Pro) rs2144639860
NM_001366385.1(CARD14):c.484C>G (p.Leu162Val) rs1180184443
NM_001366385.1(CARD14):c.827C>G (p.Ser276Trp) rs149318654
NM_001366385.1(CARD14):c.898G>T (p.Glu300Ter) rs2144249046
NM_001366385.1(CARD14):c.921G>A (p.Ser307=) rs753922155
NM_001366385.1(CARD14):c.931C>T (p.Arg311Trp) rs145167842
NM_001367624.2(ZNF469):c.*1323G>A rs780254370
NM_001367624.2(ZNF469):c.*1348G>A rs886052428
NM_001367624.2(ZNF469):c.*491T>C rs557906701
NM_001367624.2(ZNF469):c.*547G>T rs370886541
NM_001367624.2(ZNF469):c.*879T>C rs886052426
NM_001367624.2(ZNF469):c.*932A>G rs886052427
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly) rs1429918039
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn) rs967698954
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.2(ZNF469):c.11353del (p.Gln3785fs)
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg) rs529322092
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro) rs1555520642
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg) rs2142308428
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) rs985304000
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn) rs1285839120
NM_001370466.1(NOD2):c.*325G>A rs886052046
NM_001370466.1(NOD2):c.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.*422C>G rs886052049
NM_001370466.1(NOD2):c.*64G>C rs1053712094
NM_001370466.1(NOD2):c.-8-1G>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.-8-2202A>G rs1963694151
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup rs2150776605
NM_001370466.1(NOD2):c.-8-2208G>A rs2150776587
NM_001370466.1(NOD2):c.-8-2213A>T
NM_001370466.1(NOD2):c.-8-2214G>A
NM_001370466.1(NOD2):c.-8-2219C>T
NM_001370466.1(NOD2):c.-8-2242G>A rs2150776459
NM_001370466.1(NOD2):c.-8-2532G>T
NM_001370466.1(NOD2):c.-8G>C
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
NM_001370466.1(NOD2):c.1088A>G (p.Asp363Gly) rs769622495
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
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.1167G>A (p.Leu389=) rs2150809554
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.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn) rs1596864349
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr) rs1964470443
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser) rs2150809796
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
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.1295G>A (p.Arg432His)
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
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.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.1360G>A (p.Gly454Ser)
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
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.139T>C (p.Phe47Leu)
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.1411G>A (p.Glu471Lys)
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.1462C>T (p.Leu488=) rs1318205250
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter) rs1964496675
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.1502dup (p.Asp502fs) rs754073471
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) rs1328584012
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His) rs1567392735
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu) rs1567392735
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His) rs772534917
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro) rs762186831
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.1579del (p.Ala527fs) rs2150811580
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
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.1605C>T (p.Cys535=) rs2150811696
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.1663C>G (p.Leu555Val)
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe) rs1964520847
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) rs867131858
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
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.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.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.1915G>A (p.Ala639Thr)
NM_001370466.1(NOD2):c.1929C>G (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.1976A>C (p.His659Pro)
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.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.2101G>A (p.Gly701Ser) rs1964553940
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
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.2156T>C (p.Leu719Pro)
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His) rs2150814130
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly) rs1964561689
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu) rs375713299
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
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.2249C>A (p.Thr750Asn) rs756184386
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.2276T>G (p.Leu759Arg) rs2150814646
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.2336G>T (p.Gly779Val) rs2150814954
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=) rs199475916
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val) rs1964577394
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
NM_001370466.1(NOD2):c.2382-14T>G rs2150823709
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.2458_2460del (p.Lys820del) rs2150823997
NM_001370466.1(NOD2):c.2466-12G>A rs2150824449
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.2551C>T (p.Leu851=) rs886052044
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
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+3A>C rs767535551
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.2665G>A (p.Ala889Thr)
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser) rs769395722
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.2718-1G>T rs576834532
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.2769G>T (p.Met923Ile)
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly) rs1555501675
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.2835A>G (p.Val945=) rs756968128
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) rs1965233783
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val) rs1337759230
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe) rs2150836993
NM_001370466.1(NOD2):c.2885+12A>G rs751255487
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.2957T>C (p.Ile986Thr) rs2150843373
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
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.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.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.31A>G (p.Arg11Gly) rs903928432
NM_001370466.1(NOD2):c.325_326del (p.His110fs) rs1567381106
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>G (p.Leu128Arg) rs148753593
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
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.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+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.497A>G (p.Asn166Ser) rs1964272038
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
NM_001370466.1(NOD2):c.526G>A (p.Val176Ile) rs369764782
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) rs1964416023
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.649G>A (p.Glu217Lys) rs1964420065
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.695T>G (p.Val232Gly)
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.722C>T (p.Pro241Leu) rs1964426730
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
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.788A>T (p.Asp263Val) rs2150807904
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu) rs149338478
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
NM_001370466.1(NOD2):c.824del (p.Gly275fs) rs2150808087
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.878A>G (p.Gln293Arg)
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.920G>C (p.Arg307Pro)
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly) rs774016655
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_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) rs1970317070
NM_001375808.2(LPIN2):c.*1199G>A rs566472161
NM_001375808.2(LPIN2):c.*1220G>A rs886053749
NM_001375808.2(LPIN2):c.*1417C>T rs745743898
NM_001375808.2(LPIN2):c.*1473T>G rs540306659
NM_001375808.2(LPIN2):c.*1494G>A rs577975091
NM_001375808.2(LPIN2):c.*1504T>C rs751740607
NM_001375808.2(LPIN2):c.*1514G>A rs544570644
NM_001375808.2(LPIN2):c.*217G>T rs886053763
NM_001375808.2(LPIN2):c.*2216C>A rs886053746
NM_001375808.2(LPIN2):c.*2685GAAAAA[1] rs777601819
NM_001375808.2(LPIN2):c.*271T>G rs2077028775
NM_001375808.2(LPIN2):c.*2759A>C rs886053743
NM_001375808.2(LPIN2):c.*2787C>G rs886053742
NM_001375808.2(LPIN2):c.*2830C>T rs886053741
NM_001375808.2(LPIN2):c.*2831CA[1] rs886053740
NM_001375808.2(LPIN2):c.*2890_*2893dup rs540600202
NM_001375808.2(LPIN2):c.*362T>C rs886053760
NM_001375808.2(LPIN2):c.*493G>A rs886053758
NM_001375808.2(LPIN2):c.*507T>C rs886053756
NM_001375808.2(LPIN2):c.*5G>A rs531230516
NM_001375808.2(LPIN2):c.*703dup rs200435334
NM_001375808.2(LPIN2):c.*767A>G rs886053754
NM_001375808.2(LPIN2):c.*772G>A rs948592383
NM_001375808.2(LPIN2):c.*792G>C rs542453339
NM_001375808.2(LPIN2):c.*796T>C rs567530586
NM_001375808.2(LPIN2):c.*805C>G rs146605124
NM_001375808.2(LPIN2):c.*805C>T rs146605124
NM_001375808.2(LPIN2):c.*813A>C rs547125074
NM_001375808.2(LPIN2):c.*855A>G rs2077017832
NM_001375808.2(LPIN2):c.*90C>T rs547359065
NM_001375808.2(LPIN2):c.-10+1354A>G rs886053769
NM_001375808.2(LPIN2):c.1010G>C (p.Ser337Thr) rs563019654
NM_001375808.2(LPIN2):c.1049T>G (p.Leu350Arg) rs2144195296
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln) rs2077310038
NM_001375808.2(LPIN2):c.1061A>G (p.Gln354Arg)
NM_001375808.2(LPIN2):c.1073T>C (p.Met358Thr) rs2077309425
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr)
NM_001375808.2(LPIN2):c.1145T>G (p.Val382Gly) rs751176955
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169G>C (p.Gly390Ala) rs761918167
NM_001375808.2(LPIN2):c.1176C>A (p.His392Gln) rs774569139
NM_001375808.2(LPIN2):c.1201G>C (p.Asp401His)
NM_001375808.2(LPIN2):c.1203T>G (p.Asp401Glu) rs1018736752
NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)
NM_001375808.2(LPIN2):c.1229G>A (p.Gly410Asp) rs2077255674
NM_001375808.2(LPIN2):c.1229G>T (p.Gly410Val)
NM_001375808.2(LPIN2):c.1265A>G (p.Lys422Arg) rs2144177505
NM_001375808.2(LPIN2):c.1268+6G>A
NM_001375808.2(LPIN2):c.1291C>A (p.Gln431Lys)
NM_001375808.2(LPIN2):c.1312C>T (p.Leu438Phe) rs138079183
NM_001375808.2(LPIN2):c.1315T>C (p.Ser439Pro) rs1555673672
NM_001375808.2(LPIN2):c.1322C>A (p.Ser441Tyr) rs2077211393
NM_001375808.2(LPIN2):c.1322C>G (p.Ser441Cys) rs2077211393
NM_001375808.2(LPIN2):c.133T>G (p.Cys45Gly) rs2143202250
NM_001375808.2(LPIN2):c.1369G>A (p.Glu457Lys)
NM_001375808.2(LPIN2):c.1390A>G (p.Met464Val) rs2077210318
NM_001375808.2(LPIN2):c.1399C>T (p.Pro467Ser) rs2144161696
NM_001375808.2(LPIN2):c.1417C>A (p.Leu473Ile)
NM_001375808.2(LPIN2):c.1423G>A (p.Gly475Arg) rs2077209843
NM_001375808.2(LPIN2):c.1428C>T (p.Gly476=) rs2077209708
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala) rs377661526
NM_001375808.2(LPIN2):c.1456+5G>A rs767379049
NM_001375808.2(LPIN2):c.1456+5G>T
NM_001375808.2(LPIN2):c.1504C>G (p.Pro502Ala) rs2077177749
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
NM_001375808.2(LPIN2):c.1522C>T (p.Pro508Ser) rs1598528577
NM_001375808.2(LPIN2):c.1547A>G (p.Asn516Ser) rs2144150580
NM_001375808.2(LPIN2):c.154T>G (p.Phe52Val)
NM_001375808.2(LPIN2):c.1596A>C (p.Gln532His)
NM_001375808.2(LPIN2):c.1626A>C (p.Thr542=) rs1568519739
NM_001375808.2(LPIN2):c.1669C>T (p.Arg557Cys)
NM_001375808.2(LPIN2):c.1711C>T (p.Leu571=) rs151293770
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1726G>A (p.Glu576Lys) rs946046520
NM_001375808.2(LPIN2):c.1749_1781del (p.Ser585_Ala595del)
NM_001375808.2(LPIN2):c.1754G>C (p.Ser585Thr) rs2077137787
NM_001375808.2(LPIN2):c.1756G>A (p.Asp586Asn) rs2144139779
NM_001375808.2(LPIN2):c.1775A>G (p.Lys592Arg) rs2077137437
NM_001375808.2(LPIN2):c.1783G>T (p.Ala595Ser)
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
NM_001375808.2(LPIN2):c.1809CTC[1] (p.Ser606del)
NM_001375808.2(LPIN2):c.1811C>A (p.Ser604Tyr)
NM_001375808.2(LPIN2):c.1864A>T (p.Ile622Phe)
NM_001375808.2(LPIN2):c.1877C>T (p.Pro626Leu) rs2144132938
NM_001375808.2(LPIN2):c.1894A>C (p.Thr632Pro)
NM_001375808.2(LPIN2):c.1894A>G (p.Thr632Ala)
NM_001375808.2(LPIN2):c.1901C>T (p.Ser634Leu)
NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val)
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.1940C>T (p.Ala647Val) rs2077102755
NM_001375808.2(LPIN2):c.1954C>T (p.His652Tyr)
NM_001375808.2(LPIN2):c.195T>A (p.Ile65=) rs2077582494
NM_001375808.2(LPIN2):c.1985T>C (p.Ile662Thr)
NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys)
NM_001375808.2(LPIN2):c.199A>G (p.Ile67Val) rs1448362269
NM_001375808.2(LPIN2):c.2011C>T (p.Arg671Cys) rs773597485
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=) rs2077101778
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) rs749526038
NM_001375808.2(LPIN2):c.2053A>G (p.Ile685Val)
NM_001375808.2(LPIN2):c.2060T>C (p.Ile687Thr)
NM_001375808.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) rs781016213
NM_001375808.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
NM_001375808.2(LPIN2):c.2124C>T (p.Gly708=) rs1170798474
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr) rs200256485
NM_001375808.2(LPIN2):c.2183A>G (p.Tyr728Cys) rs1335621701
NM_001375808.2(LPIN2):c.2189T>C (p.Phe730Ser) rs2077065305
NM_001375808.2(LPIN2):c.220G>A (p.Val74Met) rs755936540
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_001375808.2(LPIN2):c.2246A>G (p.His749Arg) rs1598519554
NM_001375808.2(LPIN2):c.2265C>T (p.Gly755=) rs2144118754
NM_001375808.2(LPIN2):c.2279G>A (p.Arg760Gln) rs2077063454
NM_001375808.2(LPIN2):c.2327+7C>T rs2144118376
NM_001375808.2(LPIN2):c.2336T>C (p.Ile779Thr) rs2077055890
NM_001375808.2(LPIN2):c.2348C>T (p.Pro783Leu) rs2144116602
NM_001375808.2(LPIN2):c.2353A>G (p.Lys785Glu)
NM_001375808.2(LPIN2):c.2358C>A (p.Phe786Leu)
NM_001375808.2(LPIN2):c.2385G>C (p.Lys795Asn) rs775976047
NM_001375808.2(LPIN2):c.2396C>T (p.Ala799Val) rs2077055023
NM_001375808.2(LPIN2):c.2398C>A (p.Pro800Thr)
NM_001375808.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_001375808.2(LPIN2):c.2410C>A (p.Pro804Thr) rs1290776094
NM_001375808.2(LPIN2):c.241G>A (p.Gly81Ser) rs2143138290
NM_001375808.2(LPIN2):c.2428G>A (p.Gly810Arg)
NM_001375808.2(LPIN2):c.2451T>C (p.Tyr817=) rs2144112680
NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys)
NM_001375808.2(LPIN2):c.2458A>G (p.Thr820Ala) rs2077043149
NM_001375808.2(LPIN2):c.2506G>A (p.Gly836Ser) rs2077042449
NM_001375808.2(LPIN2):c.2531A>G (p.Lys844Arg) rs2077042167
NM_001375808.2(LPIN2):c.2537A>C (p.Asn846Thr) rs1251007885
NM_001375808.2(LPIN2):c.2566C>T (p.Leu856Phe) rs200839841
NM_001375808.2(LPIN2):c.2569G>A (p.Val857Met)
NM_001375808.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly) rs2077036512
NM_001375808.2(LPIN2):c.2583C>A (p.Phe861Leu)
NM_001375808.2(LPIN2):c.2594G>A (p.Ser865Asn) rs1398896345
NM_001375808.2(LPIN2):c.2609C>T (p.Ser870Phe)
NM_001375808.2(LPIN2):c.2617C>T (p.Pro873Ser)
NM_001375808.2(LPIN2):c.2621G>A (p.Cys874Tyr) rs201160155
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.2623C>A (p.Pro875Thr) rs2077035373
NM_001375808.2(LPIN2):c.2628G>A (p.Glu876=) rs2144110086
NM_001375808.2(LPIN2):c.2639_2641del (p.Phe880del) rs755987482
NM_001375808.2(LPIN2):c.2640C>G (p.Phe880Leu)
NM_001375808.2(LPIN2):c.2649G>A (p.Trp883Ter)
NM_001375808.2(LPIN2):c.2656C>G (p.Pro886Ala) rs1470910142
NM_001375808.2(LPIN2):c.2686T>A (p.Ser896Thr)
NM_001375808.2(LPIN2):c.26G>A (p.Gly9Glu)
NM_001375808.2(LPIN2):c.325C>T (p.Pro109Ser) rs2077534072
NM_001375808.2(LPIN2):c.350A>C (p.Asp117Ala)
NM_001375808.2(LPIN2):c.359C>A (p.Thr120Asn) rs562075898
NM_001375808.2(LPIN2):c.374C>G (p.Ser125Trp) rs542116963
NM_001375808.2(LPIN2):c.410T>C (p.Ile137Thr) rs2077531992
NM_001375808.2(LPIN2):c.413C>T (p.Ser138Leu)
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) rs763550824
NM_001375808.2(LPIN2):c.434C>T (p.Thr145Ile)
NM_001375808.2(LPIN2):c.436A>G (p.Ile146Val) rs2143107101
NM_001375808.2(LPIN2):c.445C>T (p.Pro149Ser) rs376661021
NM_001375808.2(LPIN2):c.501G>C (p.Lys167Asn) rs751939691
NM_001375808.2(LPIN2):c.523G>C (p.Ala175Pro) rs1334969199
NM_001375808.2(LPIN2):c.542G>A (p.Cys181Tyr)
NM_001375808.2(LPIN2):c.562G>A (p.Asp188Asn)
NM_001375808.2(LPIN2):c.572A>G (p.Lys191Arg) rs778040063
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val) rs1290039087
NM_001375808.2(LPIN2):c.584C>G (p.Ala195Gly) rs1226336598
NM_001375808.2(LPIN2):c.590+5dup rs2077527998
NM_001375808.2(LPIN2):c.590G>A (p.Arg197Gln) rs753918449
NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro)
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp) rs746938405
NM_001375808.2(LPIN2):c.608C>A (p.Ser203Tyr)
NM_001375808.2(LPIN2):c.616GAA[2] (p.Glu208del) rs749710348
NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys)
NM_001375808.2(LPIN2):c.629A>G (p.Lys210Arg)
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
NM_001375808.2(LPIN2):c.650C>G (p.Ser217Cys) rs2144209857
NM_001375808.2(LPIN2):c.658_660del (p.His220del) rs761910090
NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)
NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu)
NM_001375808.2(LPIN2):c.698C>A (p.Thr233Asn) rs139654849
NM_001375808.2(LPIN2):c.699-8C>G rs1568540842
NM_001375808.2(LPIN2):c.700A>G (p.Thr234Ala)
NM_001375808.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_001375808.2(LPIN2):c.751C>A (p.Pro251Thr) rs1350091087
NM_001375808.2(LPIN2):c.769A>G (p.Arg257Gly) rs778325300
NM_001375808.2(LPIN2):c.77C>T (p.Thr26Ile)
NM_001375808.2(LPIN2):c.79C>G (p.Leu27Val)
NM_001375808.2(LPIN2):c.830A>G (p.Lys277Arg) rs1171826173
NM_001375808.2(LPIN2):c.842C>G (p.Ser281Cys) rs2144196740
NM_001375808.2(LPIN2):c.863C>T (p.Ala288Val) rs766692933
NM_001375808.2(LPIN2):c.865A>G (p.Thr289Ala)
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile) rs759046454
NM_001375808.2(LPIN2):c.895C>T (p.Arg299Trp)
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp) rs886053768
NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln)
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) rs765953887
NM_001375808.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117
NM_001407129.1(TGFBR2):c.-109C>T rs1697919506
NM_001421.4(ELF4):c.668A>T (p.Asn223Ile)
NM_001421.4(ELF4):c.724G>A (p.Val242Met)
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) rs200902568
NM_001457.4(FLNB):c.3008C>T (p.Thr1003Met) rs1178934749
NM_001457.4(FLNB):c.4620T>C (p.Phe1540=) rs2107220411
NM_001457.4(FLNB):c.5379C>T (p.Val1793=) rs2097330797
NM_001558.4(IL10RA):c.*1664A>G rs886047713
NM_001558.4(IL10RA):c.*328G>C rs753647542
NM_001558.4(IL10RA):c.*846T>A rs2058089031
NM_001558.4(IL10RA):c.*872G>A rs1591267794
NM_001558.4(IL10RA):c.-65C>T rs2057985368
NM_001558.4(IL10RA):c.1064T>A (p.Val355Glu)
NM_001558.4(IL10RA):c.1091G>A (p.Ser364Asn)
NM_001558.4(IL10RA):c.1093A>G (p.Ser365Gly)
NM_001558.4(IL10RA):c.1108A>T (p.Ser370Cys) rs2134996112
NM_001558.4(IL10RA):c.1111G>A (p.Gly371Arg) rs1591266329
NM_001558.4(IL10RA):c.1141C>T (p.Pro381Ser)
NM_001558.4(IL10RA):c.1169A>T (p.Gln390Leu) rs1591266369
NM_001558.4(IL10RA):c.1183A>G (p.Ser395Gly)
NM_001558.4(IL10RA):c.1240G>A (p.Gly414Arg)
NM_001558.4(IL10RA):c.1247C>G (p.Thr416Arg) rs200254237
NM_001558.4(IL10RA):c.1253G>A (p.Gly418Asp) rs2134996550
NM_001558.4(IL10RA):c.1270C>A (p.His424Asn)
NM_001558.4(IL10RA):c.1309G>A (p.Asp437Asn) rs199688187
NM_001558.4(IL10RA):c.1318G>A (p.Ala440Thr) rs779845571
NM_001558.4(IL10RA):c.1318G>T (p.Ala440Ser) rs779845571
NM_001558.4(IL10RA):c.1324G>T (p.Ala442Ser)
NM_001558.4(IL10RA):c.1336T>A (p.Tyr446Asn) rs763134422
NM_001558.4(IL10RA):c.13C>T (p.Leu5Phe)
NM_001558.4(IL10RA):c.1400C>T (p.Ser467Leu) rs1327527158
NM_001558.4(IL10RA):c.1409C>G (p.Thr470Arg)
NM_001558.4(IL10RA):c.140C>G (p.Pro47Arg)
NM_001558.4(IL10RA):c.1458C>T (p.Gly486=) rs1391016354
NM_001558.4(IL10RA):c.1495C>T (p.Gln499Ter) rs2058078603
NM_001558.4(IL10RA):c.1502C>T (p.Pro501Leu)
NM_001558.4(IL10RA):c.150T>G (p.Asn50Lys)
NM_001558.4(IL10RA):c.1534C>T (p.Pro512Ser) rs568445118
NM_001558.4(IL10RA):c.155C>G (p.Ser52Cys)
NM_001558.4(IL10RA):c.1567T>C (p.Trp523Arg)
NM_001558.4(IL10RA):c.158A>C (p.Glu53Ala) rs2134981745
NM_001558.4(IL10RA):c.1590C>G (p.Ser530Arg) rs2134997313
NM_001558.4(IL10RA):c.1594A>G (p.Ser532Gly)
NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr) rs772899933
NM_001558.4(IL10RA):c.1624G>T (p.Ala542Ser) rs1256749577
NM_001558.4(IL10RA):c.1669C>T (p.Leu557Phe)
NM_001558.4(IL10RA):c.1685A>T (p.Asn562Ile)
NM_001558.4(IL10RA):c.1699A>C (p.Thr567Pro) rs1447881842
NM_001558.4(IL10RA):c.1707C>T (p.Pro569=) rs2058080759
NM_001558.4(IL10RA):c.1715C>G (p.Ser572Cys)
NM_001558.4(IL10RA):c.1729A>T (p.Ser577Cys) rs2134997563
NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly)
NM_001558.4(IL10RA):c.20T>A (p.Val7Glu) rs2057986809
NM_001558.4(IL10RA):c.25C>T (p.Leu9=) rs886047706
NM_001558.4(IL10RA):c.284G>T (p.Gly95Val)
NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter) rs886047709
NM_001558.4(IL10RA):c.307G>C (p.Val103Leu)
NM_001558.4(IL10RA):c.362A>T (p.Asp121Val)
NM_001558.4(IL10RA):c.367+4C>T rs768106799
NM_001558.4(IL10RA):c.37C>T (p.Leu13Phe) rs2057987183
NM_001558.4(IL10RA):c.401T>C (p.Ile134Thr)
NM_001558.4(IL10RA):c.416T>A (p.Ile139Asn) rs775703417
NM_001558.4(IL10RA):c.426G>C (p.Lys142Asn) rs1487076003
NM_001558.4(IL10RA):c.447G>T (p.Lys149Asn) rs750580462
NM_001558.4(IL10RA):c.44T>C (p.Leu15Pro)
NM_001558.4(IL10RA):c.452C>G (p.Ala151Gly)
NM_001558.4(IL10RA):c.464A>G (p.Asp155Gly)
NM_001558.4(IL10RA):c.46C>T (p.Arg16Cys) rs748428395
NM_001558.4(IL10RA):c.47G>C (p.Arg16Pro) rs75769905
NM_001558.4(IL10RA):c.494G>A (p.Arg165Gln)
NM_001558.4(IL10RA):c.530A>G (p.Asn177Ser) rs2058037125
NM_001558.4(IL10RA):c.559_579dup (p.His187_Leu193dup) rs781485945
NM_001558.4(IL10RA):c.580A>T (p.Thr194Ser) rs2058040889
NM_001558.4(IL10RA):c.592G>A (p.Val198Met)
NM_001558.4(IL10RA):c.632C>T (p.Ser211Phe) rs143645358
NM_001558.4(IL10RA):c.635G>A (p.Arg212Gln)
NM_001558.4(IL10RA):c.646G>A (p.Gly216Arg)
NM_001558.4(IL10RA):c.65A>C (p.His22Pro) rs1249233978
NM_001558.4(IL10RA):c.67+11G>A rs376956484
NM_001558.4(IL10RA):c.67+11G>C rs376956484
NM_001558.4(IL10RA):c.67+13G>A rs886047707
NM_001558.4(IL10RA):c.670A>T (p.Ile224Phe) rs2228055
NM_001558.4(IL10RA):c.687G>C (p.Gln229His)
NM_001558.4(IL10RA):c.688T>C (p.Tyr230His)
NM_001558.4(IL10RA):c.697G>T (p.Val233Leu) rs41354146
NM_001558.4(IL10RA):c.700A>G (p.Thr234Ala) rs551546135
NM_001558.4(IL10RA):c.703A>G (p.Asn235Asp)
NM_001558.4(IL10RA):c.71C>A (p.Thr24Lys)
NM_001558.4(IL10RA):c.736C>T (p.Leu246Phe)
NM_001558.4(IL10RA):c.742G>A (p.Gly248Arg)
NM_001558.4(IL10RA):c.746C>A (p.Ala249Asp) rs1325062418
NM_001558.4(IL10RA):c.782G>A (p.Arg261Gln)
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)
NM_001558.4(IL10RA):c.802A>G (p.Ser268Gly) rs2058051810
NM_001558.4(IL10RA):c.810+6T>A rs2134991742
NM_001558.4(IL10RA):c.846C>A (p.Ser282Arg)
NM_001558.4(IL10RA):c.859C>G (p.Pro287Ala)
NM_001558.4(IL10RA):c.873C>G (p.Asp291Glu) rs2134995540
NM_001558.4(IL10RA):c.874A>G (p.Thr292Ala)
NM_001558.4(IL10RA):c.887T>C (p.Leu296Pro)
NM_001558.4(IL10RA):c.8C>G (p.Pro3Arg) rs56008037
NM_001558.4(IL10RA):c.910G>A (p.Val304Met) rs1179563256
NM_001558.4(IL10RA):c.922C>A (p.Leu308Met) rs1213121269
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala) rs2145093839
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) rs1599637550
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly) rs765370739
NM_001611.5(ACP5):c.1A>G (p.Met1Val) rs2145093934
NM_001611.5(ACP5):c.262-14T>C rs1973181435
NM_001611.5(ACP5):c.262-15_262-12del
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
NM_001611.5(ACP5):c.331C>T (p.His111Tyr) rs1195620494
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe) rs763172932
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) rs1243676385
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu) rs2145089685
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) rs2145089608
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr) rs2145093640
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser) rs764197394
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) rs1973158210
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) rs766846705
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg) rs371719196
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) rs756201795
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) rs1599634603
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.604G>C (p.Val202Leu) rs1188745377
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp) rs775336126
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) rs1973150471
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) rs757630659
NM_001611.5(ACP5):c.622G>C (p.Val208Leu)
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) rs142623076
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile) rs939236666
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) rs1453335064
NM_001611.5(ACP5):c.736-3C>T rs773090099
NM_001611.5(ACP5):c.736-7T>A rs766031438
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
NM_001611.5(ACP5):c.766G>A (p.Val256Met) rs146196342
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg) rs2145082240
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp) rs2145082191
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) rs1973084550
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) rs1973082559
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys) rs774428695
NM_001611.5(ACP5):c.846C>G (p.His282Gln) rs749645391
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys) rs931778512
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) rs1973079948
NM_001611.5(ACP5):c.85G>A (p.Val29Ile) rs1297907616
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg) rs752091275
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile) rs2145081185
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) rs1483232010
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) rs763811862
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly) rs146436811
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln) rs149133430
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) rs145265651
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn) rs2145093288
NM_001754.5(RUNX1):c.*83G>A rs2145870845
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup) rs2056446750
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln) rs1229231012
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln) rs754894156
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*406A>G rs886049441
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) rs886049448
NM_001844.5(COL2A1):c.1068+4del rs2136590056
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) rs886049449
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
NM_001844.5(COL2A1):c.1372C>G (p.Pro458Ala)
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001844.5(COL2A1):c.1734+4del rs2136566434
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) rs1939177362
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) rs1179925303
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) rs1938961773
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser) rs1398589070
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) rs533540496
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) rs769500366
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3436-3C>A
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn) rs760093841
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) rs1347381176
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg) rs1555164561
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) rs2136508302
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4317+9G>C rs1938570357
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) rs958614345
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser) rs2136616123
NM_001844.5(COL2A1):c.924+14A>C rs1475810942
NM_001844.5(COL2A1):c.924+2T>A
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp)
NM_001844.5(COL2A1):c.970-6T>C
NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp)
NM_001851.6(COL9A1):c.1143+4A>T rs1224302280
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001852.4(COL9A2):c.*322G>A rs1057515566
NM_001852.4(COL9A2):c.*405G>A rs1643903443
NM_001852.4(COL9A2):c.1009-2A>C rs2124065362
NM_001852.4(COL9A2):c.1054-15A>G rs774104069
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu) rs370682522
NM_001852.4(COL9A2):c.1242dup (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser) rs2124049861
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys) rs1057515562
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His) rs901123053
NM_001852.4(COL9A2):c.1691_1692insA (p.Gly565fs) rs1643933460
NM_001852.4(COL9A2):c.1696T>C (p.Tyr566His) rs1643933432
NM_001852.4(COL9A2):c.1701A>T (p.Pro567=) rs1643933277
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001852.4(COL9A2):c.300C>T (p.Val100=) rs1644152223
NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala) rs1057515526
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) rs1600810127
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) rs1190301717
NM_001853.4(COL9A3):c.275G>C (p.Gly92Ala) rs1991064282
NM_001853.4(COL9A3):c.337G>C (p.Gly113Arg) rs574865366
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) rs2063514944
NM_001853.4(COL9A3):c.422C>G (p.Pro141Arg) rs141879928
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly) rs771139447
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu) rs1252968708
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg) rs141978499
NM_001972.4(ELANE):c.13C>T (p.Arg5Cys) rs942026381
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg) rs1320267189
NM_001972.4(ELANE):c.228C>G (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.327C>T (p.Tyr109=) rs1339843779
NM_001972.4(ELANE):c.367-10_367-9dup rs750610201
NM_001972.4(ELANE):c.498C>T (p.Ala166=) rs2145148773
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg) rs780046041
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp) rs2145143878
NM_001972.4(ELANE):c.744C>T (p.Arg248=) rs2035677633
NM_001972.4(ELANE):c.93G>T (p.Val31=) rs894935356
NM_001999.4(FBN2):c.*100A>C rs886059890
NM_001999.4(FBN2):c.*1050GTT[6] rs886059885
NM_001999.4(FBN2):c.*1102G>A rs1764871127
NM_001999.4(FBN2):c.*1111C>A rs886059884
NM_001999.4(FBN2):c.*1111C>T rs886059884
NM_001999.4(FBN2):c.*1420A>C rs886059882
NM_001999.4(FBN2):c.*1420_*1421dup rs143731656
NM_001999.4(FBN2):c.*1507A>G rs1764860915
NM_001999.4(FBN2):c.*284C>T rs886059888
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*557C>T rs886059887
NM_001999.4(FBN2):c.*686C>T rs1764882009
NM_001999.4(FBN2):c.*716A>G rs1581169601
NM_001999.4(FBN2):c.-173G>A rs1044506328
NM_001999.4(FBN2):c.-173G>C rs1044506328
NM_001999.4(FBN2):c.-190C>G rs998131843
NM_001999.4(FBN2):c.-430A>C rs1756908339
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu) rs2112810970
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1070G>T (p.Arg357Leu)
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
NM_001999.4(FBN2):c.1078+5G>A rs1752991507
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
NM_001999.4(FBN2):c.117del (p.Gln41fs)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser) rs2112810915
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
NM_001999.4(FBN2):c.1209dup (p.Ala404fs) rs1752614082
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met) rs1752569770
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu) rs774411616
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met) rs1158937805
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val) rs1752527949
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr) rs762032979
NM_001999.4(FBN2):c.1603+6T>C rs1752527763
NM_001999.4(FBN2):c.1604-1G>A
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe) rs1456682417
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp) rs781622385
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys) rs2126960231
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg) rs2126960181
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr) rs2126960142
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp) rs2112810796
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1723+3A>G rs2126960065
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr) rs1752093236
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile) rs2126954772
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly) rs2126954710
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr) rs1752034896
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu) rs1581249148
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser) rs1752034485
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val) rs769947673
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly) rs781745158
NM_001999.4(FBN2):c.206C>T (p.Ala69Val) rs1756883252
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
NM_001999.4(FBN2):c.208G>C (p.Val70Leu) rs1756883199
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
NM_001999.4(FBN2):c.2095+1G>A
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2095+5G>A rs2126954577
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
NM_001999.4(FBN2):c.2105T>G (p.Met702Arg) rs2126947635
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys) rs748861935
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg) rs1006288282
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
NM_001999.4(FBN2):c.2148_2151dup (p.Pro718fs) rs2126947501
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn) rs2126947449
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys) rs1199450063
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg) rs145259927
NM_001999.4(FBN2):c.2303-2A>G rs1751723379
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg) rs1751722668
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2428+1G>T rs1751719964
NM_001999.4(FBN2):c.2429-1G>A rs1270553787
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu) rs2126937089
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.254+5G>A
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.2554+5G>T rs2126936993
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp) rs756569459
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg) rs1751526889
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg) rs1168151418
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
NM_001999.4(FBN2):c.2674+6A>T rs1381952326
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val) rs1057524854
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter) rs111405756
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val) rs1751304507
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2863+13T>G
NM_001999.4(FBN2):c.2863+19G>A
NM_001999.4(FBN2):c.2863+5G>A
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys) rs2126919911
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg) rs1751283602
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro) rs1751282501
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala) rs1756849074
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp) rs1064797312
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
NM_001999.4(FBN2):c.3019T>A (p.Trp1007Arg)
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr) rs375187779
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu) rs984782865
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg) rs1756848859
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile) rs952236163
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu) rs754884110
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg) rs1372203787
NM_001999.4(FBN2):c.3190G>A (p.Val1064Ile)
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg) rs2112809157
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala) rs1751146734
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His) rs2126913738
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
NM_001999.4(FBN2):c.3217+1G>A rs2126913719
NM_001999.4(FBN2):c.3217+6T>C
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3218-5T>G rs1554123647
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val) rs1218249269
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp) rs1751116346
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly) rs1751112929
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.336C>T (p.Val112=)
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser) rs1750918793
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu) rs886059901
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp) rs1750918059
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+3A>G rs1750917005
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys) rs774250442
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=) rs1750894040
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser) rs1756677980
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg) rs1554123060
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe) rs1581226080
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr) rs1389689622
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro) rs1581224796
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala) rs202072752
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala) rs1047464870
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
NM_001999.4(FBN2):c.3725-3C>T
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly) rs1750812827
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3784G>A (p.Gly1262Arg)
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
NM_001999.4(FBN2):c.3814T>A (p.Tyr1272Asn)
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr) rs1750804361
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys) rs755489065
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr) rs2126896759
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.3974-3T>A
NM_001999.4(FBN2):c.3974-7T>G
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp) rs1394998823
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg) rs1750789808
NM_001999.4(FBN2):c.4094G>C (p.Cys1365Ser) rs1581223610
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=) rs1205541313
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg) rs1255550274
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val) rs1750732608
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys) rs866719857
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn) rs1750669779
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile) rs1750669779
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile) rs1750666696
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly) rs1750620648
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu) rs1750620267
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser) rs1022830212
NM_001999.4(FBN2):c.4471+6T>G
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.4472-3C>T
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile) rs779482726
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr) rs2126854530
NM_001999.4(FBN2):c.4594+3A>G
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr)
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+8A>G rs1750262267
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg) rs1295579995
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=) rs886059899
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg) rs2126847622
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp) rs1420949011
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala) rs750116860
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.489C>G (p.His163Gln) rs2112798145
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4961G>T (p.Cys1654Phe)
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly) rs863223577
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser) rs1749990667
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
NM_001999.4(FBN2):c.5200+5_5200+10del
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr) rs748580764
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser) rs886059898
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu) rs886059897
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val) rs2126842904
NM_001999.4(FBN2):c.531A>G (p.Gln177=) rs863223544
NM_001999.4(FBN2):c.532+1G>A
NM_001999.4(FBN2):c.533-11T>A
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
NM_001999.4(FBN2):c.5423-17A>G rs2126839337
NM_001999.4(FBN2):c.5423-1G>C
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly) rs1749861614
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg) rs1749856162
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly) rs1749848470
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser) rs2126838900
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln) rs1447600676
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
NM_001999.4(FBN2):c.55G>A (p.Val19Met) rs1357709072
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser) rs1749845932
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs) rs1561760194
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg) rs1248957106
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
NM_001999.4(FBN2):c.5800+6A>T rs2126838039
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys) rs1561495424
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu) rs1749761553
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr) rs1749718755
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly) rs1749717138
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu) rs776937649
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met) rs770585421
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly) rs1749697561
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-1G>C
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=) rs1749324052
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala) rs753305406
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg) rs2126822046
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu) rs893616190
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
NM_001999.4(FBN2):c.628+3A>G
NM_001999.4(FBN2):c.628+4A>C
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6292+6A>G
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His) rs746758405
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser) rs1266965965
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.6445+3A>G
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6511+4C>A rs368610241
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-2A>T
NM_001999.4(FBN2):c.6560G>C (p.Cys2187Ser) rs1471927589
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=) rs886059895
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys) rs2126818692
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly) rs1749221516
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
NM_001999.4(FBN2):c.6757+2C>T
NM_001999.4(FBN2):c.6758-11C>T rs1749187127
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val) rs1749185390
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile) rs1581189176
NM_001999.4(FBN2):c.6880+6G>A
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6880+8C>T rs1749181973
NM_001999.4(FBN2):c.6881-1G>A
NM_001999.4(FBN2):c.6881-1G>T
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu) rs199560824
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=) rs1274780641
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala) rs1554117875
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.7011A>G (p.Val2337=) rs2126816680
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn) rs886059893
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val) rs754380350
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile) rs768193630
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro) rs2126809547
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
NM_001999.4(FBN2):c.7345+6G>A
NM_001999.4(FBN2):c.7346-3C>T rs1439389862
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile) rs1019541548
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu) rs1765435966
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala) rs2126808746
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp) rs2112811070
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val) rs768941456
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter) rs1453328210
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe) rs755760127
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu) rs886059903
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr) rs1765342729
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg) rs2126805299
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala) rs869025429
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7840+1G>A
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=) rs772818240
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser) rs886059892
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7959C>A (p.Val2653=) rs773175830
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro) rs1765039937
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser) rs1229950368
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser) rs1765038866
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe) rs2126795619
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr) rs1387382061
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp) rs1765035115
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr) rs2126795584
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser) rs1754660014
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys) rs758149534
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp) rs772569905
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser) rs1765029329
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg) rs1764985607
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=) rs775766250
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=) rs1764983104
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile) rs1764982741
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg) rs772841538
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys) rs546129957
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr) rs1308073420
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
NM_001999.4(FBN2):c.835G>A (p.Glu279Lys) rs2127056955
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser) rs1764978341
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8365-13G>A rs779409691
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe) rs1764918027
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr) rs772005485
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met) rs2126791949
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly) rs1764914190
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile) rs2126791814
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg) rs2127056896
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met) rs62374973
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys) rs762956345
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn) rs2126791602
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg) rs1764904392
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr) rs1754069147
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser) rs2127000101
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser) rs372250618
NM_002296.4(LBR):c.218C>G (p.Ser73Cys) rs773644529
NM_002296.4(LBR):c.629G>T (p.Gly210Val) rs565288775
NM_002350.4(LYN):c.488G>T (p.Gly163Val)
NM_002381.5(MATN3):c.526G>T (p.Val176Leu) rs200762092
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn) rs2103483989
NM_002381.5(MATN3):c.962G>C (p.Cys321Ser) rs753326503
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1558G>C rs989103885
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1668T>C rs1040775189
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G rs768066844
NM_002451.4(MTAP):c.*2111A>G rs1825809798
NM_002451.4(MTAP):c.*2171G>A rs886063790
NM_002451.4(MTAP):c.*2333C>G rs1587259830
NM_002451.4(MTAP):c.*254A>T rs897835622
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*2693G>A rs1825822182
NM_002451.4(MTAP):c.*2740G>A rs1460775302
NM_002451.4(MTAP):c.*303G>A rs140440868
NM_002451.4(MTAP):c.*3656A>G rs1825841895
NM_002451.4(MTAP):c.*3692G>A rs1418873617
NM_002451.4(MTAP):c.*378T>C rs886063783
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*795A>T rs1317482370
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg) rs760959805
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly) rs886063781
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) rs1555551464
NM_002520.7(NPM1):c.*101T>C rs530255077
NM_002520.7(NPM1):c.*1del rs2113301429
NM_002520.7(NPM1):c.*29A>T rs200638434
NM_002520.7(NPM1):c.*2A>G rs2113301446
NM_002520.7(NPM1):c.*33T>C rs2113301714
NM_002520.7(NPM1):c.*73T>C rs2113302170
NM_002520.7(NPM1):c.*75C>T rs2113302182
NM_002520.7(NPM1):c.*76T>C rs2113302197
NM_002520.7(NPM1):c.*80T>A rs2113302213
NM_002520.7(NPM1):c.*81A>T rs1271696160
NM_002520.7(NPM1):c.*98C>T rs2113302335
NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr) rs2129882318
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe) rs2113898287
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met) rs2113897117
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) rs1760269359
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) rs202213873
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
NM_002609.4(PDGFRB):c.2023+6G>A
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr) rs770635073
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn) rs1760151971
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr) rs2113890060
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
NM_002609.4(PDGFRB):c.2549A>G (p.Asp850Gly)
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
NM_002609.4(PDGFRB):c.2698+1G>T
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
NM_002609.4(PDGFRB):c.2905-1G>T
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
NM_002609.4(PDGFRB):c.631+1G>A rs111491260
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
NM_002661.5(PLCG2):c.101G>A (p.Arg34His)
NM_002661.5(PLCG2):c.1040G>A (p.Arg347His)
NM_002661.5(PLCG2):c.1048C>T (p.Arg350Cys) rs1272100050
NM_002661.5(PLCG2):c.1049G>T (p.Arg350Leu)
NM_002661.5(PLCG2):c.1051A>T (p.Met351Leu) rs918993653
NM_002661.5(PLCG2):c.1053G>T (p.Met351Ile)
NM_002661.5(PLCG2):c.105G>A (p.Lys35=) rs1910957870
NM_002661.5(PLCG2):c.1060C>A (p.Arg354Ser)
NM_002661.5(PLCG2):c.1060C>T (p.Arg354Cys)
NM_002661.5(PLCG2):c.1066A>G (p.Ile356Val) rs1908751821
NM_002661.5(PLCG2):c.1068T>G (p.Ile356Met) rs1374066580
NM_002661.5(PLCG2):c.107C>G (p.Ser36Cys)
NM_002661.5(PLCG2):c.1086C>G (p.Asp362Glu) rs375876385
NM_002661.5(PLCG2):c.1124C>T (p.Thr375Met)
NM_002661.5(PLCG2):c.1126C>G (p.Arg376Gly)
NM_002661.5(PLCG2):c.1127G>A (p.Arg376Gln) rs1908861048
NM_002661.5(PLCG2):c.1173C>A (p.Asp391Glu) rs772084816
NM_002661.5(PLCG2):c.1177G>T (p.Ala393Ser)
NM_002661.5(PLCG2):c.1193+2_1193+3insAACAGCCAAAGAAAATCAGCCAAATCAGCCAAAGAAAT
NM_002661.5(PLCG2):c.1194-5T>A
NM_002661.5(PLCG2):c.1204A>G (p.Ile402Val) rs1909108487
NM_002661.5(PLCG2):c.1213A>G (p.Ile405Val)
NM_002661.5(PLCG2):c.1216G>A (p.Glu406Lys)
NM_002661.5(PLCG2):c.1220A>G (p.Glu407Gly) rs1909109489
NM_002661.5(PLCG2):c.1225T>A (p.Cys409Ser) rs2143630582
NM_002661.5(PLCG2):c.1234G>C (p.Glu412Gln) rs1909110302
NM_002661.5(PLCG2):c.1235A>G (p.Glu412Gly)
NM_002661.5(PLCG2):c.1244G>A (p.Arg415His)
NM_002661.5(PLCG2):c.1265A>G (p.Lys422Arg) rs1909111711
NM_002661.5(PLCG2):c.1270G>A (p.Val424Ile)
NM_002661.5(PLCG2):c.127G>T (p.Val43Phe) rs370352962
NM_002661.5(PLCG2):c.1282C>A (p.Leu428Met) rs1033764675
NM_002661.5(PLCG2):c.1292C>T (p.Thr431Met)
NM_002661.5(PLCG2):c.1310G>T (p.Ser437Ile)
NM_002661.5(PLCG2):c.1318C>A (p.Gln440Lys)
NM_002661.5(PLCG2):c.1328C>T (p.Ser443Leu)
NM_002661.5(PLCG2):c.133G>A (p.Val45Met) rs368137889
NM_002661.5(PLCG2):c.133G>T (p.Val45Leu)
NM_002661.5(PLCG2):c.1351A>G (p.Ile451Val)
NM_002661.5(PLCG2):c.1351A>T (p.Ile451Phe) rs1424969556
NM_002661.5(PLCG2):c.1381_1382delinsTT (p.Arg461Leu) rs1597121708
NM_002661.5(PLCG2):c.1381del (p.Arg461fs)
NM_002661.5(PLCG2):c.1382G>A (p.Arg461Gln) rs3935625
NM_002661.5(PLCG2):c.1385G>A (p.Gly462Asp) rs1909323788
NM_002661.5(PLCG2):c.13G>T (p.Val5Phe)
NM_002661.5(PLCG2):c.1404GGA[1] (p.Glu469del) rs762006432
NM_002661.5(PLCG2):c.1406A>G (p.Glu469Gly) rs1597121726
NM_002661.5(PLCG2):c.1410C>G (p.Asp470Glu)
NM_002661.5(PLCG2):c.1414A>G (p.Lys472Glu) rs1909325738
NM_002661.5(PLCG2):c.1417G>C (p.Asp473His)
NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys) rs867345397
NM_002661.5(PLCG2):c.1423C>G (p.His475Asp) rs1909326421
NM_002661.5(PLCG2):c.1432C>T (p.Gln478Ter)
NM_002661.5(PLCG2):c.1436G>A (p.Gly479Glu) rs1389072647
NM_002661.5(PLCG2):c.1464C>A (p.Asp488Glu)
NM_002661.5(PLCG2):c.146C>T (p.Thr49Met)
NM_002661.5(PLCG2):c.1492A>G (p.Ile498Val)
NM_002661.5(PLCG2):c.149G>A (p.Arg50Gln)
NM_002661.5(PLCG2):c.1525A>G (p.Ile509Val)
NM_002661.5(PLCG2):c.1526T>C (p.Ile509Thr)
NM_002661.5(PLCG2):c.1528G>A (p.Glu510Lys)
NM_002661.5(PLCG2):c.1534A>T (p.Thr512Ser)
NM_002661.5(PLCG2):c.1537A>G (p.Met513Val) rs764836810
NM_002661.5(PLCG2):c.1538T>C (p.Met513Thr) rs1348992625
NM_002661.5(PLCG2):c.153G>C (p.Gln51His)
NM_002661.5(PLCG2):c.1558-13C>G rs763441688
NM_002661.5(PLCG2):c.1558-7G>A
NM_002661.5(PLCG2):c.1558-8C>A
NM_002661.5(PLCG2):c.1562T>C (p.Ile521Thr) rs1909472317
NM_002661.5(PLCG2):c.1564C>T (p.Pro522Ser)
NM_002661.5(PLCG2):c.1565C>T (p.Pro522Leu) rs72824905
NM_002661.5(PLCG2):c.1579C>T (p.His527Tyr) rs756033757
NM_002661.5(PLCG2):c.1586G>T (p.Gly529Val) rs1013382788
NM_002661.5(PLCG2):c.1595G>C (p.Trp532Ser) rs370429726
NM_002661.5(PLCG2):c.1596G>T (p.Trp532Cys) rs1663889181
NM_002661.5(PLCG2):c.1602C>A (p.His534Gln)
NM_002661.5(PLCG2):c.1609G>A (p.Val537Met) rs1909475104
NM_002661.5(PLCG2):c.1621A>G (p.Thr541Ala)
NM_002661.5(PLCG2):c.1646A>C (p.Glu549Ala)
NM_002661.5(PLCG2):c.1661C>A (p.Thr554Lys)
NM_002661.5(PLCG2):c.1661C>T (p.Thr554Met)
NM_002661.5(PLCG2):c.1663G>T (p.Gly555Trp)
NM_002661.5(PLCG2):c.1666G>A (p.Gly556Ser) rs779697226
NM_002661.5(PLCG2):c.1666G>C (p.Gly556Arg)
NM_002661.5(PLCG2):c.1671G>C (p.Lys557Asn) rs372347274
NM_002661.5(PLCG2):c.1674T>A (p.Asp558Glu)
NM_002661.5(PLCG2):c.1727C>T (p.Ser576Phe)
NM_002661.5(PLCG2):c.1736G>A (p.Arg579Gln)
NM_002661.5(PLCG2):c.173C>T (p.Ala58Val) rs753845661
NM_002661.5(PLCG2):c.1742G>T (p.Gly581Val)
NM_002661.5(PLCG2):c.1744C>T (p.Arg582Trp) rs1339374297
NM_002661.5(PLCG2):c.174_175inv (p.Asp59Asn)
NM_002661.5(PLCG2):c.1759C>T (p.Arg587Trp) rs1049453423
NM_002661.5(PLCG2):c.1775T>C (p.Met592Thr) rs1555519696
NM_002661.5(PLCG2):c.1780G>T (p.Gly594Cys) rs759783310
NM_002661.5(PLCG2):c.1781G>A (p.Gly594Asp)
NM_002661.5(PLCG2):c.1790T>C (p.Leu597Pro)
NM_002661.5(PLCG2):c.17A>G (p.Asn6Ser)
NM_002661.5(PLCG2):c.1805C>G (p.Thr602Ser)
NM_002661.5(PLCG2):c.1825A>G (p.Ser609Gly)
NM_002661.5(PLCG2):c.1834G>T (p.Ala612Ser)
NM_002661.5(PLCG2):c.1837C>T (p.Leu613Phe)
NM_002661.5(PLCG2):c.183C>G (p.Ile61Met) rs553657822
NM_002661.5(PLCG2):c.1862A>G (p.His621Arg)
NM_002661.5(PLCG2):c.1867C>T (p.Arg623Cys)
NM_002661.5(PLCG2):c.1868G>T (p.Arg623Leu) rs1909580178
NM_002661.5(PLCG2):c.1888C>T (p.Arg630Trp) rs747373917
NM_002661.5(PLCG2):c.1899C>G (p.Asp633Glu) rs1305847899
NM_002661.5(PLCG2):c.1909AACCCC[3] (p.Pro640_His641insAsnPro)
NM_002661.5(PLCG2):c.1922A>G (p.His641Arg)
NM_002661.5(PLCG2):c.1923C>G (p.His641Gln) rs374927413
NM_002661.5(PLCG2):c.1934+1G>A rs2143658084
NM_002661.5(PLCG2):c.1934+5G>A rs1909585047
NM_002661.5(PLCG2):c.1939T>C (p.Tyr647His)
NM_002661.5(PLCG2):c.194-3T>C
NM_002661.5(PLCG2):c.1948A>T (p.Ser650Cys) rs1567529655
NM_002661.5(PLCG2):c.1952T>C (p.Leu651Pro) rs2143663242
NM_002661.5(PLCG2):c.1957C>T (p.Arg653Cys) rs755569519
NM_002661.5(PLCG2):c.1958G>A (p.Arg653His) rs1325870340
NM_002661.5(PLCG2):c.1960_1961del (p.Gly654fs) rs2143663285
NM_002661.5(PLCG2):c.1971G>C (p.Glu657Asp) rs758439876
NM_002661.5(PLCG2):c.1981A>T (p.Met661Leu) rs778096311
NM_002661.5(PLCG2):c.1990C>T (p.Pro664Ser) rs1909678188
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp) rs1057519831
NM_002661.5(PLCG2):c.1998C>G (p.Asp666Glu) rs745784908
NM_002661.5(PLCG2):c.1999G>A (p.Gly667Arg)
NM_002661.5(PLCG2):c.2015G>A (p.Arg672Gln)
NM_002661.5(PLCG2):c.2021G>A (p.Arg674Gln)
NM_002661.5(PLCG2):c.2029A>T (p.Ser677Cys)
NM_002661.5(PLCG2):c.202A>G (p.Met68Val)
NM_002661.5(PLCG2):c.2053A>G (p.Arg685Gly)
NM_002661.5(PLCG2):c.2054_2054+1delinsAA rs2143663578
NM_002661.5(PLCG2):c.2060G>A (p.Arg687Lys) rs770193044
NM_002661.5(PLCG2):c.2060G>C (p.Arg687Thr) rs770193044
NM_002661.5(PLCG2):c.2068G>A (p.Val690Ile)
NM_002661.5(PLCG2):c.2089C>T (p.Arg697Trp)
NM_002661.5(PLCG2):c.208A>G (p.Ile70Val) rs756113383
NM_002661.5(PLCG2):c.2090G>A (p.Arg697Gln) rs767717794
NM_002661.5(PLCG2):c.2097C>T (p.Gly699=) rs1597132176
NM_002661.5(PLCG2):c.2166G>C (p.Lys722Asn)
NM_002661.5(PLCG2):c.216A>C (p.Glu72Asp) rs2143474867
NM_002661.5(PLCG2):c.2179C>T (p.Arg727Ter) rs1476496257
NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn) rs2143682822
NM_002661.5(PLCG2):c.2187G>A (p.Met729Ile)
NM_002661.5(PLCG2):c.2195G>A (p.Arg732His)
NM_002661.5(PLCG2):c.219C>G (p.Ile73Met)
NM_002661.5(PLCG2):c.2200C>A (p.Pro734Thr)
NM_002661.5(PLCG2):c.2203G>A (p.Val735Met)
NM_002661.5(PLCG2):c.2207C>T (p.Thr736Ile)
NM_002661.5(PLCG2):c.2211C>A (p.Pro737=) rs368933697
NM_002661.5(PLCG2):c.2224C>G (p.Arg742Gly) rs776768909
NM_002661.5(PLCG2):c.2225G>A (p.Arg742His)
NM_002661.5(PLCG2):c.2225G>T (p.Arg742Leu)
NM_002661.5(PLCG2):c.2228A>G (p.Tyr743Cys) rs752539679
NM_002661.5(PLCG2):c.2231A>C (p.Asn744Thr) rs762848692
NM_002661.5(PLCG2):c.2236-14_2236-13delinsGG
NM_002661.5(PLCG2):c.2246T>C (p.Ile749Thr)
NM_002661.5(PLCG2):c.2270G>C (p.Arg757Thr)
NM_002661.5(PLCG2):c.2284C>T (p.Pro762Ser)
NM_002661.5(PLCG2):c.2300C>T (p.Pro767Leu)
NM_002661.5(PLCG2):c.2306T>C (p.Met769Thr)
NM_002661.5(PLCG2):c.2307+4C>G rs745912221
NM_002661.5(PLCG2):c.2307+5G>A
NM_002661.5(PLCG2):c.2318C>T (p.Thr773Ile)
NM_002661.5(PLCG2):c.2326G>T (p.Ala776Ser)
NM_002661.5(PLCG2):c.2339A>G (p.Tyr780Cys)
NM_002661.5(PLCG2):c.2375G>C (p.Arg792Pro) rs202210217
NM_002661.5(PLCG2):c.2399C>A (p.Ser800Tyr) rs769337881
NM_002661.5(PLCG2):c.23A>T (p.Asp8Val)
NM_002661.5(PLCG2):c.2417+6G>A
NM_002661.5(PLCG2):c.2418-694C>G rs901895283
NM_002661.5(PLCG2):c.241G>A (p.Asp81Asn) rs2143474943
NM_002661.5(PLCG2):c.2430C>G (p.Asp810Glu)
NM_002661.5(PLCG2):c.2438C>A (p.Thr813Asn) rs2143701586
NM_002661.5(PLCG2):c.2465A>C (p.Asn822Thr) rs746172717
NM_002661.5(PLCG2):c.2479A>G (p.Ile827Val) rs1910307318
NM_002661.5(PLCG2):c.2482T>A (p.Ser828Thr)
NM_002661.5(PLCG2):c.2483C>T (p.Ser828Leu)
NM_002661.5(PLCG2):c.2485A>G (p.Thr829Ala) rs764926974
NM_002661.5(PLCG2):c.2489C>A (p.Ala830Glu)
NM_002661.5(PLCG2):c.248A>G (p.Glu83Gly)
NM_002661.5(PLCG2):c.2493C>A (p.Asp831Glu)
NM_002661.5(PLCG2):c.2497G>C (p.Glu833Gln)
NM_002661.5(PLCG2):c.2501A>C (p.Glu834Ala) rs754958154
NM_002661.5(PLCG2):c.2501A>G (p.Glu834Gly) rs754958154
NM_002661.5(PLCG2):c.2503C>G (p.Leu835Val)
NM_002661.5(PLCG2):c.2515-3C>A
NM_002661.5(PLCG2):c.2515-3C>T rs751118241
NM_002661.5(PLCG2):c.2528A>G (p.Asn843Ser)
NM_002661.5(PLCG2):c.2556A>G (p.Ile852Met) rs1910374666
NM_002661.5(PLCG2):c.2573A>C (p.Tyr858Ser)
NM_002661.5(PLCG2):c.2580C>A (p.Val860=) rs776770937
NM_002661.5(PLCG2):c.2581+3A>G
NM_002661.5(PLCG2):c.2581G>A (p.Val861Met) rs559219743
NM_002661.5(PLCG2):c.2609A>G (p.Lys870Arg)
NM_002661.5(PLCG2):c.2611T>C (p.Ser871Pro) rs2143713402
NM_002661.5(PLCG2):c.2640G>T (p.Gln880His)
NM_002661.5(PLCG2):c.2650C>T (p.Pro884Ser)
NM_002661.5(PLCG2):c.2653C>T (p.Pro885Ser)
NM_002661.5(PLCG2):c.2654C>T (p.Pro885Leu)
NM_002661.5(PLCG2):c.2661G>T (p.Glu887Asp) rs201601618
NM_002661.5(PLCG2):c.2663T>G (p.Phe888Cys)
NM_002661.5(PLCG2):c.2668A>T (p.Thr890Ser)
NM_002661.5(PLCG2):c.266G>A (p.Arg89His) rs762900860
NM_002661.5(PLCG2):c.2680G>A (p.Glu894Lys)
NM_002661.5(PLCG2):c.2694G>T (p.Glu898Asp)
NM_002661.5(PLCG2):c.2707A>G (p.Ile903Val)
NM_002661.5(PLCG2):c.2713G>C (p.Glu905Gln)
NM_002661.5(PLCG2):c.2729T>C (p.Ile910Thr)
NM_002661.5(PLCG2):c.2738A>C (p.Lys913Thr)
NM_002661.5(PLCG2):c.2739+5G>T rs755300615
NM_002661.5(PLCG2):c.2740-10C>G rs762291149
NM_002661.5(PLCG2):c.2774C>T (p.Ser925Phe)
NM_002661.5(PLCG2):c.2784C>G (p.Ile928Met) rs769310647
NM_002661.5(PLCG2):c.2800G>C (p.Val934Leu) rs73598710
NM_002661.5(PLCG2):c.2815C>G (p.Pro939Ala) rs2143721503
NM_002661.5(PLCG2):c.2816C>A (p.Pro939Gln) rs2143721512
NM_002661.5(PLCG2):c.281G>A (p.Cys94Tyr)
NM_002661.5(PLCG2):c.2832G>C (p.Lys944Asn)
NM_002661.5(PLCG2):c.2842+6A>G rs765477213
NM_002661.5(PLCG2):c.2843A>C (p.Glu948Ala)
NM_002661.5(PLCG2):c.2851G>C (p.Asp951His) rs2143726099
NM_002661.5(PLCG2):c.2858G>A (p.Arg953Gln)
NM_002661.5(PLCG2):c.2867G>T (p.Arg956Leu)
NM_002661.5(PLCG2):c.2881A>G (p.Thr961Ala)
NM_002661.5(PLCG2):c.2882C>G (p.Thr961Arg)
NM_002661.5(PLCG2):c.2896A>G (p.Ile966Val)
NM_002661.5(PLCG2):c.2899A>G (p.Ile967Val)
NM_002661.5(PLCG2):c.2901C>G (p.Ile967Met)
NM_002661.5(PLCG2):c.2917G>A (p.Asp973Asn)
NM_002661.5(PLCG2):c.2935C>G (p.Gln979Glu)
NM_002661.5(PLCG2):c.2935C>T (p.Gln979Ter)
NM_002661.5(PLCG2):c.2948C>T (p.Thr983Ile) rs1910708985
NM_002661.5(PLCG2):c.2963A>G (p.Lys988Arg)
NM_002661.5(PLCG2):c.2968C>G (p.Gln990Glu)
NM_002661.5(PLCG2):c.2994C>A (p.Asp998Glu) rs766228601
NM_002661.5(PLCG2):c.2996C>T (p.Pro999Leu)
NM_002661.5(PLCG2):c.3001C>T (p.Arg1001Cys) rs1024473204
NM_002661.5(PLCG2):c.3004C>A (p.Leu1002Ile)
NM_002661.5(PLCG2):c.3004C>T (p.Leu1002Phe) rs977656147
NM_002661.5(PLCG2):c.3029T>C (p.Val1010Ala) rs1420258193
NM_002661.5(PLCG2):c.3032C>T (p.Ala1011Val)
NM_002661.5(PLCG2):c.304A>T (p.Thr102Ser)
NM_002661.5(PLCG2):c.3053-9C>A rs751586463
NM_002661.5(PLCG2):c.3075C>G (p.His1025Gln) rs368241065
NM_002661.5(PLCG2):c.3088C>A (p.Leu1030Ile)
NM_002661.5(PLCG2):c.3098G>T (p.Arg1033Leu) rs760293225
NM_002661.5(PLCG2):c.309G>T (p.Gln103His)
NM_002661.5(PLCG2):c.3117G>C (p.Gln1039His)
NM_002661.5(PLCG2):c.3118C>T (p.Pro1040Ser)
NM_002661.5(PLCG2):c.3128T>C (p.Met1043Thr) rs2143730925
NM_002661.5(PLCG2):c.3148C>T (p.Pro1050Ser) rs2143730985
NM_002661.5(PLCG2):c.3162G>C (p.Glu1054Asp) rs2143731047
NM_002661.5(PLCG2):c.3166_3167delinsTT (p.Gln1056Leu) rs1597144802
NM_002661.5(PLCG2):c.3198+6G>A rs752647511
NM_002661.5(PLCG2):c.3199-3C>T
NM_002661.5(PLCG2):c.3202C>T (p.Leu1068Phe)
NM_002661.5(PLCG2):c.3205G>A (p.Gly1069Ser)
NM_002661.5(PLCG2):c.3226C>G (p.Leu1076Val)
NM_002661.5(PLCG2):c.3236G>C (p.Ser1079Thr) rs771514165
NM_002661.5(PLCG2):c.3245G>T (p.Cys1082Phe)
NM_002661.5(PLCG2):c.3248C>A (p.Pro1083His) rs2143733942
NM_002661.5(PLCG2):c.3275C>A (p.Ala1092Asp) rs763763571
NM_002661.5(PLCG2):c.3285CAA[2] (p.Asn1097del) rs749338323
NM_002661.5(PLCG2):c.32C>A (p.Ala11Glu) rs753458249
NM_002661.5(PLCG2):c.3302C>T (p.Thr1101Met)
NM_002661.5(PLCG2):c.3307G>A (p.Val1103Ile)
NM_002661.5(PLCG2):c.3310G>A (p.Val1104Met) rs1385319449
NM_002661.5(PLCG2):c.3314-3C>T
NM_002661.5(PLCG2):c.3329G>A (p.Ser1110Asn)
NM_002661.5(PLCG2):c.3330C>G (p.Ser1110Arg) rs2143736934
NM_002661.5(PLCG2):c.3332C>T (p.Pro1111Leu) rs1597146336
NM_002661.5(PLCG2):c.3343C>G (p.Pro1115Ala) rs372606303
NM_002661.5(PLCG2):c.3358G>T (p.Val1120Leu) rs1254901490
NM_002661.5(PLCG2):c.337+4G>T
NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala) rs762731399
NM_002661.5(PLCG2):c.3384C>A (p.Asn1128Lys)
NM_002661.5(PLCG2):c.3388G>A (p.Ala1130Thr)
NM_002661.5(PLCG2):c.3395T>A (p.Leu1132Gln)
NM_002661.5(PLCG2):c.3397C>T (p.Arg1133Cys) rs779014379
NM_002661.5(PLCG2):c.3406G>A (p.Val1136Ile)
NM_002661.5(PLCG2):c.3414AGA[1] (p.Glu1139del) rs1597146407
NM_002661.5(PLCG2):c.3422T>A (p.Met1141Lys) rs958943394
NM_002661.5(PLCG2):c.3422T>C (p.Met1141Thr)
NM_002661.5(PLCG2):c.3476A>G (p.Lys1159Arg)
NM_002661.5(PLCG2):c.3489G>T (p.Arg1163Ser)
NM_002661.5(PLCG2):c.348A>T (p.Lys116Asn)
NM_002661.5(PLCG2):c.3545_3570+7dup
NM_002661.5(PLCG2):c.3553G>A (p.Glu1185Lys)
NM_002661.5(PLCG2):c.3559C>T (p.Arg1187Trp)
NM_002661.5(PLCG2):c.3560G>A (p.Arg1187Gln)
NM_002661.5(PLCG2):c.3569T>A (p.Leu1190Gln)
NM_002661.5(PLCG2):c.3571-3C>T
NM_002661.5(PLCG2):c.3573G>C (p.Glu1191Asp) rs201682723
NM_002661.5(PLCG2):c.3583G>A (p.Glu1195Lys)
NM_002661.5(PLCG2):c.3586C>A (p.Leu1196Ile) rs1338237295
NM_002661.5(PLCG2):c.3589T>C (p.Tyr1197His) rs1388794490
NM_002661.5(PLCG2):c.359_374dup (p.Gly125_Leu126insTer) rs2143487402
NM_002661.5(PLCG2):c.3601C>T (p.Arg1201Cys)
NM_002661.5(PLCG2):c.3602G>A (p.Arg1201His)
NM_002661.5(PLCG2):c.3608T>C (p.Leu1203Pro)
NM_002661.5(PLCG2):c.3673A>G (p.Asn1225Asp)
NM_002661.5(PLCG2):c.3674A>T (p.Asn1225Ile)
NM_002661.5(PLCG2):c.3679A>T (p.Asn1227Tyr)
NM_002661.5(PLCG2):c.367C>G (p.Leu123Val) rs1362812278
NM_002661.5(PLCG2):c.3683G>T (p.Arg1228Leu)
NM_002661.5(PLCG2):c.3688G>A (p.Ala1230Thr) rs989710468
NM_002661.5(PLCG2):c.3689C>T (p.Ala1230Val) rs542811647
NM_002661.5(PLCG2):c.3695T>C (p.Val1232Ala)
NM_002661.5(PLCG2):c.3701A>G (p.Glu1234Gly)
NM_002661.5(PLCG2):c.3704T>A (p.Phe1235Tyr)
NM_002661.5(PLCG2):c.371C>A (p.Ser124Tyr)
NM_002661.5(PLCG2):c.3729G>C (p.Gln1243His)
NM_002661.5(PLCG2):c.3736C>T (p.Gln1246Ter)
NM_002661.5(PLCG2):c.3738G>C (p.Gln1246His)
NM_002661.5(PLCG2):c.3747C>G (p.Cys1249Trp) rs1197295448
NM_002661.5(PLCG2):c.3755+1G>A
NM_002661.5(PLCG2):c.3755+5G>C
NM_002661.5(PLCG2):c.3755+5G>T rs1430068302
NM_002661.5(PLCG2):c.3761G>A (p.Arg1254Lys) rs2143784279
NM_002661.5(PLCG2):c.3769A>G (p.Arg1257Gly)
NM_002661.5(PLCG2):c.3776G>C (p.Ser1259Thr)
NM_002661.5(PLCG2):c.3785A>G (p.Lys1262Arg)
NM_002661.5(PLCG2):c.3798G>C (p.Ter1266Tyr)
NM_002661.5(PLCG2):c.385T>G (p.Leu129Val) rs866421259
NM_002661.5(PLCG2):c.387A>T (p.Leu129Phe)
NM_002661.5(PLCG2):c.388C>A (p.His130Asn)
NM_002661.5(PLCG2):c.390C>G (p.His130Gln)
NM_002661.5(PLCG2):c.398C>G (p.Ala133Gly)
NM_002661.5(PLCG2):c.403A>G (p.Asn135Asp)
NM_002661.5(PLCG2):c.413C>T (p.Thr138Met)
NM_002661.5(PLCG2):c.416C>T (p.Pro139Leu) rs1597358022
NM_002661.5(PLCG2):c.426C>G (p.Ile142Met)
NM_002661.5(PLCG2):c.431+5_431+14del rs1555513131
NM_002661.5(PLCG2):c.431+5_431+6insGGGTAGT
NM_002661.5(PLCG2):c.431+6T>C
NM_002661.5(PLCG2):c.445C>A (p.Gln149Lys) rs2143490818
NM_002661.5(PLCG2):c.461A>T (p.Asp154Val) rs1906834252
NM_002661.5(PLCG2):c.466A>T (p.Thr156Ser) rs1906834407
NM_002661.5(PLCG2):c.46A>G (p.Ser16Gly)
NM_002661.5(PLCG2):c.480-3C>T
NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg) rs752018966
NM_002661.5(PLCG2):c.490C>T (p.Arg164Ter)
NM_002661.5(PLCG2):c.495G>C (p.Glu165Asp) rs1243041169
NM_002661.5(PLCG2):c.506T>G (p.Ile169Ser) rs1597364394
NM_002661.5(PLCG2):c.50A>G (p.Gln17Arg)
NM_002661.5(PLCG2):c.50A>T (p.Gln17Leu) rs757826017
NM_002661.5(PLCG2):c.539C>T (p.Ala180Val) rs780839015
NM_002661.5(PLCG2):c.559T>A (p.Phe187Ile)
NM_002661.5(PLCG2):c.560T>G (p.Phe187Cys)
NM_002661.5(PLCG2):c.565-18C>G rs2143532379
NM_002661.5(PLCG2):c.571G>C (p.Gly191Arg)
NM_002661.5(PLCG2):c.572_574del (p.Gly191del) rs763410656
NM_002661.5(PLCG2):c.579C>A (p.His193Gln) rs201080992
NM_002661.5(PLCG2):c.598G>C (p.Glu200Gln)
NM_002661.5(PLCG2):c.607C>T (p.His203Tyr)
NM_002661.5(PLCG2):c.610C>T (p.Leu204Phe)
NM_002661.5(PLCG2):c.630G>T (p.Met210Ile) rs1907484248
NM_002661.5(PLCG2):c.634G>C (p.Glu212Gln)
NM_002661.5(PLCG2):c.648+4A>T rs2143532795
NM_002661.5(PLCG2):c.648+6A>G
NM_002661.5(PLCG2):c.648G>A (p.Ser216=)
NM_002661.5(PLCG2):c.64C>A (p.Leu22Met) rs1423487027
NM_002661.5(PLCG2):c.653T>C (p.Leu218Pro) rs2143568039
NM_002661.5(PLCG2):c.674C>T (p.Ser225Leu)
NM_002661.5(PLCG2):c.688C>G (p.Leu230Val)
NM_002661.5(PLCG2):c.691G>C (p.Gly231Arg)
NM_002661.5(PLCG2):c.693-20C>G
NM_002661.5(PLCG2):c.695A>G (p.Asn232Ser)
NM_002661.5(PLCG2):c.700G>A (p.Asp234Asn)
NM_002661.5(PLCG2):c.713C>T (p.Ala238Val)
NM_002661.5(PLCG2):c.721G>A (p.Val241Ile) rs1908182940
NM_002661.5(PLCG2):c.733G>T (p.Asp245Tyr) rs2143576325
NM_002661.5(PLCG2):c.735C>G (p.Asp245Glu)
NM_002661.5(PLCG2):c.739C>G (p.Gln247Glu)
NM_002661.5(PLCG2):c.741G>C (p.Gln247His)
NM_002661.5(PLCG2):c.751A>T (p.Ile251Leu)
NM_002661.5(PLCG2):c.766-1G>A rs2143595100
NM_002661.5(PLCG2):c.768G>T (p.Glu256Asp) rs745516901
NM_002661.5(PLCG2):c.770A>G (p.His257Arg)
NM_002661.5(PLCG2):c.776C>T (p.Ala259Val)
NM_002661.5(PLCG2):c.789C>A (p.Asn263Lys) rs1001137639
NM_002661.5(PLCG2):c.796C>T (p.Arg266Cys)
NM_002661.5(PLCG2):c.797G>A (p.Arg266His)
NM_002661.5(PLCG2):c.811A>G (p.Lys271Glu)
NM_002661.5(PLCG2):c.824A>G (p.Asp275Gly)
NM_002661.5(PLCG2):c.826A>T (p.Thr276Ser)
NM_002661.5(PLCG2):c.829A>C (p.Met277Leu) rs372494175
NM_002661.5(PLCG2):c.829A>G (p.Met277Val)
NM_002661.5(PLCG2):c.848C>G (p.Pro283Arg) rs779592401
NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu) rs190687540
NM_002661.5(PLCG2):c.853T>G (p.Leu285Val) rs1179653977
NM_002661.5(PLCG2):c.871C>G (p.Leu291Val)
NM_002661.5(PLCG2):c.890G>A (p.Arg297Gln)
NM_002661.5(PLCG2):c.899G>T (p.Ser300Ile) rs764885126
NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys) rs1908633748
NM_002661.5(PLCG2):c.911A>G (p.Glu304Gly)
NM_002661.5(PLCG2):c.926T>C (p.Val309Ala)
NM_002661.5(PLCG2):c.942G>A (p.Met314Ile) rs1555517092
NM_002661.5(PLCG2):c.949C>T (p.Pro317Ser)
NM_002661.5(PLCG2):c.952del (p.Leu318fs)
NM_002661.5(PLCG2):c.956C>G (p.Ser319Cys)
NM_002661.5(PLCG2):c.971C>G (p.Ser324Cys)
NM_002661.5(PLCG2):c.986C>A (p.Thr329Lys) rs1908637761
NM_002661.5(PLCG2):c.987-7C>G rs754373274
NM_002661.5(PLCG2):c.991C>G (p.Leu331Val) rs2143609348
NM_002661.5(PLCG2):c.998del (p.Gly333fs)
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002904.6(NELFE):c.-41A>G rs886061299
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe) rs557788926
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln) rs1640467596
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile) rs763338270
NM_003036.4(SKI):c.1095+5T>C rs2100916508
NM_003036.4(SKI):c.1095+6G>A
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
NM_003036.4(SKI):c.1096-15A>G
NM_003036.4(SKI):c.1096-6C>G
NM_003036.4(SKI):c.1096-8C>G
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.10G>C (p.Ala4Pro) rs1638560343
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly) rs749507746
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser) rs1242691039
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe) rs371268096
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser) rs1640476669
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
NM_003036.4(SKI):c.1211+2T>G
NM_003036.4(SKI):c.1212-3C>T
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu) rs2100918174
NM_003036.4(SKI):c.123C>G (p.Arg41=) rs1233566903
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu) rs748787050
NM_003036.4(SKI):c.1298del (p.Pro433fs)
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr) rs1247637685
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu) rs1640493986
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser) rs2100918643
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr) rs1417738788
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp) rs1640495570
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu) rs1640496768
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
NM_003036.4(SKI):c.1411G>A (p.Val471Met) rs745717087
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
NM_003036.4(SKI):c.1485_1487del (p.Leu496del) rs1640510054
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu) rs376322470
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser) rs774937962
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
NM_003036.4(SKI):c.163G>A (p.Ala55Thr) rs769506718
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser) rs1434790266
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
NM_003036.4(SKI):c.1690C>G (p.His564Asp) rs1640518223
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr) rs1640519904
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg) rs1569862379
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1767+1G>C
NM_003036.4(SKI):c.1768-3C>T
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln) rs1569865485
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del) rs1640564388
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp) rs1640565489
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys) rs863223727
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1879A>G (p.Met627Val) rs2100924200
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys) rs1640570925
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
NM_003036.4(SKI):c.196G>C (p.Ala66Pro) rs1212316098
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr) rs1569866460
NM_003036.4(SKI):c.1998+1G>T
NM_003036.4(SKI):c.1998+6C>T rs1265118842
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg) rs1060502673
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
NM_003036.4(SKI):c.2028C>G (p.His676Gln) rs1203179478
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) rs2100925789
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp) rs1347331671
NM_003036.4(SKI):c.2092C>G (p.Leu698Val) rs766929334
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly) rs1553201549
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly) rs2100926034
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu) rs1640595714
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys) rs1640595885
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=) rs1557854927
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=) rs1308786369
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln) rs1640597058
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
NM_003036.4(SKI):c.217G>A (p.Val73Met)
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=) rs1640597997
NM_003036.4(SKI):c.219G>A (p.Val73=) rs1638568131
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
NM_003036.4(SKI):c.229C>T (p.Pro77Ser) rs1370601989
NM_003036.4(SKI):c.22C>G (p.Arg8Gly) rs1254990952
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.241C>G (p.Pro81Ala) rs778291636
NM_003036.4(SKI):c.248C>T (p.Pro83Leu) rs1060502672
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
NM_003036.4(SKI):c.271T>G (p.Phe91Val) rs1638570021
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
NM_003036.4(SKI):c.278C>T (p.Pro93Leu) rs749071609
NM_003036.4(SKI):c.304G>A (p.Glu102Lys) rs1638570854
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.358C>T (p.Arg120Cys) rs1569658411
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
NM_003036.4(SKI):c.36G>C (p.Gln12His)
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
NM_003036.4(SKI):c.414G>T (p.Gln138His)
NM_003036.4(SKI):c.419A>C (p.Asn140Thr) rs2100790187
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
NM_003036.4(SKI):c.459C>T (p.Cys153=) rs1638575263
NM_003036.4(SKI):c.463G>T (p.Ala155Ser) rs867726673
NM_003036.4(SKI):c.471G>C (p.Gln157His)
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.493G>A (p.Gly165Ser) rs1569658999
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys) rs758199656
NM_003036.4(SKI):c.574G>A (p.Gly192Ser) rs1638578159
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys) rs1474048036
NM_003036.4(SKI):c.587C>T (p.Pro196Leu) rs1638578545
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
NM_003036.4(SKI):c.602A>G (p.Lys201Arg) rs2100790534
NM_003036.4(SKI):c.613G>A (p.Ala205Thr) rs2100790567
NM_003036.4(SKI):c.622G>C (p.Ala208Pro) rs761138564
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
NM_003036.4(SKI):c.655C>T (p.Arg219Cys) rs1226163559
NM_003036.4(SKI):c.687G>C (p.Lys229Asn) rs750391739
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup) rs1638560188
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
NM_003036.4(SKI):c.723C>G (p.Ser241Arg) rs2100790799
NM_003036.4(SKI):c.757A>T (p.Met253Leu) rs767352419
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
NM_003036.4(SKI):c.767C>T (p.Pro256Leu) rs2100790888
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.83C>T (p.Ser28Phe) rs1569656949
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
NM_003036.4(SKI):c.853A>T (p.Ile285Phe) rs2100791027
NM_003036.4(SKI):c.863G>T (p.Ser288Ile) rs2100791046
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys) rs1638585706
NM_003036.4(SKI):c.879C>T (p.Gly293=) rs543890429
NM_003036.4(SKI):c.896G>C (p.Arg299Pro) rs1482824984
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
NM_003036.4(SKI):c.8C>G (p.Ala3Gly) rs1553189801
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
NM_003036.4(SKI):c.968G>T (p.Arg323Leu) rs1638589251
NM_003036.4(SKI):c.969G>C (p.Arg323=) rs747642639
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) rs1226429049
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)
NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val) rs1664137750
NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)
NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val) rs2125007795
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=)
NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu) rs1663648695
NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)
NM_003183.6(ADAM17):c.1331A>G (p.His444Arg) rs1558506921
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val)
NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)
NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)
NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His) rs1340914501
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) rs774191569
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)
NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)
NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)
NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe) rs2124990793
NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr) rs1663042903
NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr) rs1662677874
NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu) rs1662676771
NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)
NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr) rs1184105835
NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)
NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)
NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala) rs1572880990
NM_003183.6(ADAM17):c.1829G>A (p.Arg610His) rs140536552
NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)
NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)
NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)
NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu) rs2124966841
NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly) rs1048485082
NM_003183.6(ADAM17):c.1914+3_1914+6del rs769369491
NM_003183.6(ADAM17):c.1914+5G>A rs2124966714
NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile) rs1553356735
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr) rs1292921269
NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)
NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn) rs2124963317
NM_003183.6(ADAM17):c.1993+4G>T rs376877494
NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)
NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val) rs1298570790
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val)
NM_003183.6(ADAM17):c.2082+4A>G
NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)
NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)
NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu) rs144721235
NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs) rs1662038678
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu) rs986450748
NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) rs889062988
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr) rs2125040739
NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys) rs370064783
NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)
NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)
NM_003183.6(ADAM17):c.2237dup (p.Ser747fs) rs1662030392
NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser) rs761025971
NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr) rs374624230
NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro) rs772616091
NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)
NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe) rs1558489720
NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg) rs2124948504
NM_003183.6(ADAM17):c.230+4A>G rs755484483
NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) rs1662022623
NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)
NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr) rs2125040735
NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)
NM_003183.6(ADAM17):c.2390del (p.Asp797fs) rs2124947949
NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe) rs780850654
NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)
NM_003183.6(ADAM17):c.2414dup (p.Ala806fs) rs2124947833
NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro) rs761391373
NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser) rs761391373
NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu) rs2124947759
NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser) rs2124947605
NM_003183.6(ADAM17):c.2445dup (p.Arg816fs) rs2124947599
NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup) rs1662005144
NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs) rs1222616180
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro) rs2125035520
NM_003183.6(ADAM17):c.276A>C (p.Gln92His)
NM_003183.6(ADAM17):c.289G>A (p.Val97Met) rs377513734
NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) rs756840167
NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu) rs1664974310
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu) rs1186689463
NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr) rs772557660
NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu) rs1340974006
NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys) rs935773047
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu) rs578189296
NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) rs1664940070
NM_003183.6(ADAM17):c.43G>A (p.Val15Met)
NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr) rs1664939081
NM_003183.6(ADAM17):c.451-5T>G
NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly) rs2125027565
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser) rs1664592938
NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu) rs1664592673
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile)
NM_003183.6(ADAM17):c.512A>T (p.Asp171Val)
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) rs1664590884
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile)
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) rs1204442125
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys) rs2125027503
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu)
NM_003183.6(ADAM17):c.571A>C (p.Asn191His) rs2125027486
NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly) rs2125027483
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn)
NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg) rs749144062
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser)
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu)
NM_003183.6(ADAM17):c.671C>T (p.Thr224Met) rs548923032
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) rs1553364641
NM_003183.6(ADAM17):c.738_740del (p.Thr248del) rs777536319
NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp) rs2125049728
NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr) rs2125023419
NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu) rs2125023411
NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys) rs1664384427
NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro) rs1664383899
NM_003183.6(ADAM17):c.844-6G>A
NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)
NM_003183.6(ADAM17):c.948G>A (p.Met316Ile) rs367951580
NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe) rs779147649
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
NM_003238.6(TGFB2):c.*1233dup rs532376886
NM_003238.6(TGFB2):c.*1431A>C rs1660199096
NM_003238.6(TGFB2):c.*2359_*2361del rs3054943
NM_003238.6(TGFB2):c.*2361del rs3054943
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992
NM_003238.6(TGFB2):c.*2980G>C rs886045993
NM_003238.6(TGFB2):c.*3076G>A rs1660255565
NM_003238.6(TGFB2):c.*3141A>G rs886045994
NM_003238.6(TGFB2):c.*3210C>T rs767736529
NM_003238.6(TGFB2):c.*323CAA[9] rs11118106
NM_003238.6(TGFB2):c.*338C>T rs1660159523
NM_003238.6(TGFB2):c.*772C>T rs886045982
NM_003238.6(TGFB2):c.-101A>G rs1656685944
NM_003238.6(TGFB2):c.-1237G>C rs1656628678
NM_003238.6(TGFB2):c.-1271A>G rs886045958
NM_003238.6(TGFB2):c.-1278AAGAGA[3] rs886045957
NM_003238.6(TGFB2):c.-514T>C rs1656669231
NM_003238.6(TGFB2):c.-542C>T rs886045973
NM_003238.6(TGFB2):c.-644AC[13] rs151329324
NM_003238.6(TGFB2):c.-644AC[14] rs151329324
NM_003238.6(TGFB2):c.-644AC[15] rs151329324
NM_003238.6(TGFB2):c.-645_-644insCCACGC rs886045967
NM_003238.6(TGFB2):c.-646G>A rs886045968
NM_003238.6(TGFB2):c.-652GCACAC[3] rs765496001
NM_003238.6(TGFB2):c.-663C>T rs886045965
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.-758G>C rs954024485
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys) rs1476361240
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys) rs1571820734
NM_003238.6(TGFB2):c.101G>A (p.Arg34His) rs1064796462
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr) rs779554274
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu) rs748732392
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu) rs1660008608
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter) rs1558264130
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
NM_003238.6(TGFB2):c.1086+1G>A rs1571904338
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe) rs1660141597
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val) rs2102527478
NM_003238.6(TGFB2):c.1186A>G (p.Lys396Glu)
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met) rs2102634488
NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser) rs1553303761
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr) rs2102634517
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu) rs1558220033
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn) rs1318854254
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu) rs1571820552
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg) rs1553292088
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
NM_003238.6(TGFB2):c.154A>G (p.Ser52Gly) rs771351240
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly) rs1656700353
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro) rs1553292060
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser) rs747128130
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val) rs1656702743
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr) rs765477784
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val) rs1571821016
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln) rs749309877
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del) rs1656708526
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val) rs967581444
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu) rs1060501982
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu) rs1553292141
NM_003238.6(TGFB2):c.346+4_346+7del rs1558220436
NM_003238.6(TGFB2):c.346+5G>A rs886042712
NM_003238.6(TGFB2):c.347-10T>A rs1419643875
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys) rs2102594799
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln) rs758366080
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser) rs1658868781
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr) rs1264824521
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val) rs896156575
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys) rs1658871071
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe) rs1291056000
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser) rs886045975
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
NM_003238.6(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val) rs1558262183
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly) rs759729701
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys) rs2102626457
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile) rs1659896577
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile) rs10482810
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn) rs1571901234
NM_003238.6(TGFB2):c.644-14_644-13del
NM_003238.6(TGFB2):c.64_66del (p.Ser22del) rs2102527414
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn) rs863223791
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile) rs957164399
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val) rs1659906438
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys) rs1558262454
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
NM_003238.6(TGFB2):c.755G>T (p.Gly252Val)
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr) rs1553303162
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr) rs559315266
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn) rs1304484008
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser) rs1659961526
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro) rs1558263254
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro) rs2102628571
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu) rs1553303217
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu) rs989462091
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys) rs750774144
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr) rs1659965863
NM_003238.6(TGFB2):c.932+4A>G rs2102628708
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg) rs1660004413
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser) rs1553303351
NM_003238.6(TGFB2):c.959G>A (p.Arg320His)
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr) rs2102630032
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu) rs1660005627
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn) rs1085307561
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly) rs2102630044
NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn)
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) rs755084678
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) rs755894337
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs) rs2035148543
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly) rs2035148476
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) rs1446755738
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr) rs1060502828
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp) rs759168311
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro) rs1566677868
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala) rs1566677868
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser) rs899613458
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) rs2035122885
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr) rs765490133
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe) rs2140254535
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr) rs2140254503
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys)
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr) rs2035417379
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile) rs2140254476
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile) rs2140254405
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) rs150817760
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro) rs1036545575
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) rs986180095
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003239.5(TGFB3):c.352+124C>G
NM_003239.5(TGFB3):c.352+2dup rs1566686800
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) rs761890018
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del) rs2035294881
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) rs1422804503
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro) rs2140254745
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys) rs532403511
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile) rs532403511
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) rs1594788076
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser) rs752691299
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala) rs2035293604
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu) rs920721092
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys) rs1555360808
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.516+4A>T rs1252391096
NM_003239.5(TGFB3):c.516+5C>T rs2035292365
NM_003239.5(TGFB3):c.517-3T>C rs2035287934
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu) rs2035287327
NM_003239.5(TGFB3):c.551G>A (p.Arg184His) rs996991722
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser) rs2035285904
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala) rs1555360774
NM_003239.5(TGFB3):c.622G>A (p.Val208Met) rs2035285476
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys) rs1331488615
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) rs2140245156
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile) rs2140240288
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr) rs1280447804
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg) rs2035212440
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr) rs2140240237
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val) rs2035211931
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.754+6_754+10del rs1414628117
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp) rs2140238325
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys) rs560321456
NM_003239.5(TGFB3):c.782G>A (p.Arg261His) rs547264290
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.830A>G (p.His277Arg) rs1382239332
NM_003239.5(TGFB3):c.830_832del (p.His277del) rs1555360376
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile) rs2035419470
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr) rs1325349711
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser) rs773168068
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln) rs2035181062
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr) rs2035180741
NM_003239.5(TGFB3):c.907G>C (p.Asp303His) rs2035180646
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) rs369281541
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) rs2035180317
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.927-10T>G rs2140236310
NM_003239.5(TGFB3):c.927-6T>A rs1555360247
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr) rs1194831540
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) rs760903557
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) rs2035150933
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) rs2035150012
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala) rs772698647
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.6(TGFBR2):c.*1207A>G rs1699738762
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1327C>G rs1699740473
NM_003242.6(TGFBR2):c.*1715A>G rs559265897
NM_003242.6(TGFBR2):c.*1842G>T rs886058321
NM_003242.6(TGFBR2):c.*1859G>T rs886058322
NM_003242.6(TGFBR2):c.*1860C>A rs886058323
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*1966A>G rs1699748594
NM_003242.6(TGFBR2):c.*226C>A rs886058307
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*3C>A
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-122T>G rs1040386724
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-195G>A rs925186023
NM_003242.6(TGFBR2):c.-1C>T
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>A rs752752584
NM_003242.6(TGFBR2):c.-9G>A
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His) rs1699354101
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) rs2125436087
NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)
NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) rs2125439408
NM_003242.6(TGFBR2):c.1397-12C>A
NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.1524+11_1524+14del
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)
NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)
NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)
NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)
NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)
NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu) rs2125410292
NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)
NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)
NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)
NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly) rs758703490
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) rs763085648
NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)
NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)
NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)
NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp) rs869025536
NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) rs753184709
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) rs746824357
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser) rs2125435026
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser) rs1553630181
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654
NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys) rs1555140533
NM_003483.6(HMGA2):c.283-2A>G rs1592471112
NM_003664.5(AP3B1):c.1230+7G>A rs1298715924
NM_003664.5(AP3B1):c.1688A>C (p.Lys563Thr) rs2112301217
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.5(AP3B1):c.853G>A (p.Asp285Asn) rs2112414243
NM_003745.2(SOCS1):c.108_137del (p.Arg38_Ala47del)
NM_003745.2(SOCS1):c.281G>T (p.Arg94Leu)
NM_003745.2(SOCS1):c.560G>A (p.Gly187Asp)
NM_003764.4(STX11):c.*6C>T rs777558264
NM_003764.4(STX11):c.-5G>A rs751130386
NM_003764.4(STX11):c.221C>T (p.Thr74Met) rs540150447
NM_003764.4(STX11):c.24_26del (p.Leu9del) rs760492745
NM_003764.4(STX11):c.433G>T (p.Asp145Tyr) rs527278192
NM_003764.4(STX11):c.99C>G (p.Ile33Met) rs756068979
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T rs1565180279
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.249G>A (p.Gly83=) rs104895072
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
NM_003978.3(PSTPIP1):c.517_518delAG rs878855322
NM_003978.5(PSTPIP1):c.*123T>C rs886051494
NM_003978.5(PSTPIP1):c.*98C>G rs1264249832
NM_003978.5(PSTPIP1):c.-280GCTGG[3] rs886051491
NM_003978.5(PSTPIP1):c.-367G>A rs886051490
NM_003978.5(PSTPIP1):c.1019G>A (p.Arg340Gln) rs768664787
NM_003978.5(PSTPIP1):c.1024G>A (p.Glu342Lys) rs774437204
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp) rs374682350
NM_003978.5(PSTPIP1):c.1055A>C (p.Glu352Ala)
NM_003978.5(PSTPIP1):c.1060C>T (p.Gln354Ter)
NM_003978.5(PSTPIP1):c.1064G>T (p.Gly355Val) rs2152692046
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu) rs755840747
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) rs768897476
NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter) rs368373680
NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter) rs762667938
NM_003978.5(PSTPIP1):c.1119+5G>A rs756068066
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
NM_003978.5(PSTPIP1):c.111A>G (p.Lys37=) rs2152678775
NM_003978.5(PSTPIP1):c.1120-13A>G
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1129G>A (p.Glu377Lys)
NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro) rs145344175
NM_003978.5(PSTPIP1):c.1144G>T (p.Ala382Ser)
NM_003978.5(PSTPIP1):c.1145C>A (p.Ala382Glu) rs202205180
NM_003978.5(PSTPIP1):c.1150G>A (p.Asp384Asn)
NM_003978.5(PSTPIP1):c.1172_1175dup (p.Glu393fs)
NM_003978.5(PSTPIP1):c.1177G>A (p.Glu393Lys) rs781437901
NM_003978.5(PSTPIP1):c.1184G>A (p.Gly395Asp) rs2076598654
NM_003978.5(PSTPIP1):c.1192A>G (p.Thr398Ala)
NM_003978.5(PSTPIP1):c.1196T>C (p.Val399Ala) rs1193580867
NM_003978.5(PSTPIP1):c.1201A>G (p.Arg401Gly) rs2076599290
NM_003978.5(PSTPIP1):c.1207G>A (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1220T>C (p.Phe407Ser) rs2152692942
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_003978.5(PSTPIP1):c.1223T>A (p.Val408Asp)
NM_003978.5(PSTPIP1):c.1225C>T (p.Pro409Ser)
NM_003978.5(PSTPIP1):c.1226C>T (p.Pro409Leu)
NM_003978.5(PSTPIP1):c.1228G>A (p.Gly410Ser) rs2152692953
NM_003978.5(PSTPIP1):c.1237C>G (p.Leu413Val)
NM_003978.5(PSTPIP1):c.1241A>G (p.Glu414Gly)
NM_003978.5(PSTPIP1):c.1241A>T (p.Glu414Val) rs2152692961
NM_003978.5(PSTPIP1):c.1242G>C (p.Glu414Asp) rs1158206044
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln) rs2076601376
NM_003978.5(PSTPIP1):c.127C>G (p.Leu43Val) rs2152678787
NM_003978.5(PSTPIP1):c.137+6C>T
NM_003978.5(PSTPIP1):c.172G>T (p.Val58Leu)
NM_003978.5(PSTPIP1):c.177del (p.Ile60fs) rs2152679010
NM_003978.5(PSTPIP1):c.17A>G (p.Gln6Arg)
NM_003978.5(PSTPIP1):c.17A>T (p.Gln6Leu)
NM_003978.5(PSTPIP1):c.181G>A (p.Ala61Thr)
NM_003978.5(PSTPIP1):c.181G>T (p.Ala61Ser) rs568503340
NM_003978.5(PSTPIP1):c.185G>A (p.Arg62Gln) rs754304151
NM_003978.5(PSTPIP1):c.212+1G>A rs2152679042
NM_003978.5(PSTPIP1):c.213-8T>G
NM_003978.5(PSTPIP1):c.214T>A (p.Ser72Thr)
NM_003978.5(PSTPIP1):c.224C>T (p.Ala75Val) rs2152683730
NM_003978.5(PSTPIP1):c.245A>G (p.Gln82Arg)
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter) rs377719165
NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp) rs1014025734
NM_003978.5(PSTPIP1):c.256A>G (p.Asn86Asp) rs2152683891
NM_003978.5(PSTPIP1):c.25G>A (p.Asp9Asn) rs2075560223
NM_003978.5(PSTPIP1):c.296G>A (p.Arg99His)
NM_003978.5(PSTPIP1):c.304C>G (p.Leu102Val) rs1401702747
NM_003978.5(PSTPIP1):c.305T>C (p.Leu102Pro)
NM_003978.5(PSTPIP1):c.32T>C (p.Phe11Ser)
NM_003978.5(PSTPIP1):c.344A>C (p.Gln115Pro) rs2076261726
NM_003978.5(PSTPIP1):c.351G>T (p.Lys117Asn)
NM_003978.5(PSTPIP1):c.354+20_354+21delinsTC
NM_003978.5(PSTPIP1):c.355-12T>C
NM_003978.5(PSTPIP1):c.355-2A>G
NM_003978.5(PSTPIP1):c.355-4G>A rs1596111331
NM_003978.5(PSTPIP1):c.35G>C (p.Trp12Ser)
NM_003978.5(PSTPIP1):c.374G>A (p.Arg125Gln)
NM_003978.5(PSTPIP1):c.376G>A (p.Val126Ile)
NM_003978.5(PSTPIP1):c.376G>T (p.Val126Phe) rs1468002596
NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe) rs2152678700
NM_003978.5(PSTPIP1):c.395C>G (p.Ser132Trp)
NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp) rs2076087868
NM_003978.5(PSTPIP1):c.403AAG[1] (p.Lys136del)
NM_003978.5(PSTPIP1):c.417+6C>G rs2076320514
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.41G>A (p.Arg14Lys)
NM_003978.5(PSTPIP1):c.425A>C (p.Lys142Thr) rs1181890332
NM_003978.5(PSTPIP1):c.429A>G (p.Thr143=) rs1141040
NM_003978.5(PSTPIP1):c.430T>C (p.Tyr144His)
NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp) rs377240256
NM_003978.5(PSTPIP1):c.431A>T (p.Tyr144Phe) rs2076340597
NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter) rs370003508
NM_003978.5(PSTPIP1):c.433G>A (p.Glu145Lys)
NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=) rs1141041
NM_003978.5(PSTPIP1):c.443G>T (p.Cys148Phe)
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) rs1441606629
NM_003978.5(PSTPIP1):c.446G>A (p.Arg149Gln) rs1141042
NM_003978.5(PSTPIP1):c.451G>A (p.Ala151Thr) rs1141043
NM_003978.5(PSTPIP1):c.452C>G (p.Ala151Gly) rs1160921792
NM_003978.5(PSTPIP1):c.457G>A (p.Asp153Asn)
NM_003978.5(PSTPIP1):c.460G>T (p.Ala154Ser) rs781516273
NM_003978.5(PSTPIP1):c.469G>A (p.Ala157Thr) rs2076342688
NM_003978.5(PSTPIP1):c.469G>T (p.Ala157Ser) rs2076342688
NM_003978.5(PSTPIP1):c.46T>C (p.Phe16Leu) rs2152678710
NM_003978.5(PSTPIP1):c.470C>A (p.Ala157Asp) rs2076342762
NM_003978.5(PSTPIP1):c.481A>C (p.Ile161Leu)
NM_003978.5(PSTPIP1):c.484A>T (p.Ser162Cys)
NM_003978.5(PSTPIP1):c.492C>G (p.Asn164Lys)
NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile) rs1235260030
NM_003978.5(PSTPIP1):c.532A>G (p.Arg178Gly)
NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter) rs867813339
NM_003978.5(PSTPIP1):c.539G>A (p.Cys180Tyr) rs1337020537
NM_003978.5(PSTPIP1):c.563-9C>A
NM_003978.5(PSTPIP1):c.572A>G (p.Tyr191Cys)
NM_003978.5(PSTPIP1):c.579G>T (p.Gln193His) rs2076388885
NM_003978.5(PSTPIP1):c.587C>A (p.Ala196Glu)
NM_003978.5(PSTPIP1):c.58A>C (p.Thr20Pro)
NM_003978.5(PSTPIP1):c.595G>A (p.Glu199Lys) rs1430542503
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.602T>C (p.Val201Ala)
NM_003978.5(PSTPIP1):c.607G>A (p.Ala203Thr) rs768226088
NM_003978.5(PSTPIP1):c.613T>C (p.Trp205Arg)
NM_003978.5(PSTPIP1):c.629G>C (p.Arg210Pro) rs776576205
NM_003978.5(PSTPIP1):c.62_63delinsAA (p.Gly21Glu) rs2152678736
NM_003978.5(PSTPIP1):c.639T>A (p.Cys213Ter) rs2076390490
NM_003978.5(PSTPIP1):c.642G>C (p.Glu214Asp) rs2076390591
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp) rs574957138
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer) rs1596123288
NM_003978.5(PSTPIP1):c.676A>G (p.Ile226Val) rs2076408341
NM_003978.5(PSTPIP1):c.679C>T (p.Leu227Phe)
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
NM_003978.5(PSTPIP1):c.683G>T (p.Arg228Leu) rs1386762740
NM_003978.5(PSTPIP1):c.684C>T (p.Arg228=) rs2076408513
NM_003978.5(PSTPIP1):c.700C>T (p.His234Tyr)
NM_003978.5(PSTPIP1):c.708C>A (p.Asn236Lys) rs768887430
NM_003978.5(PSTPIP1):c.709C>A (p.Gln237Lys)
NM_003978.5(PSTPIP1):c.718A>C (p.Met240Leu) rs1350794252
NM_003978.5(PSTPIP1):c.741+12G>C
NM_003978.5(PSTPIP1):c.742-3C>T
NM_003978.5(PSTPIP1):c.74T>C (p.Leu25Pro)
NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala) rs970904080
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp) rs375155007
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=) rs2152689079
NM_003978.5(PSTPIP1):c.770A>G (p.Glu257Gly) rs2152689087
NM_003978.5(PSTPIP1):c.778A>G (p.Ser260Gly)
NM_003978.5(PSTPIP1):c.787G>A (p.Ala263Thr)
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val) rs1266616711
NM_003978.5(PSTPIP1):c.797A>C (p.Asp266Ala)
NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn) rs770215969
NM_003978.5(PSTPIP1):c.815A>G (p.Lys272Arg) rs767248102
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871
NM_003978.5(PSTPIP1):c.825C>T (p.Gly275=) rs1596127270
NM_003978.5(PSTPIP1):c.837C>A (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+6G>T
NM_003978.5(PSTPIP1):c.838G>T (p.Ala280Ser)
NM_003978.5(PSTPIP1):c.839-1G>T rs2076455169
NM_003978.5(PSTPIP1):c.839-2A>G
NM_003978.5(PSTPIP1):c.842C>T (p.Pro281Leu)
NM_003978.5(PSTPIP1):c.843G>A (p.Pro281=)
NM_003978.5(PSTPIP1):c.854_879del (p.Gln285fs) rs2152689594
NM_003978.5(PSTPIP1):c.864C>A (p.Tyr288Ter)
NM_003978.5(PSTPIP1):c.865G>A (p.Asp289Asn)
NM_003978.5(PSTPIP1):c.868C>T (p.Arg290Trp)
NM_003978.5(PSTPIP1):c.869G>A (p.Arg290Gln) rs761580488
NM_003978.5(PSTPIP1):c.869G>T (p.Arg290Leu) rs761580488
NM_003978.5(PSTPIP1):c.874G>T (p.Val292Phe)
NM_003978.5(PSTPIP1):c.875T>C (p.Val292Ala)
NM_003978.5(PSTPIP1):c.893G>A (p.Ser298Asn) rs1307593129
NM_003978.5(PSTPIP1):c.905A>G (p.Gln302Arg)
NM_003978.5(PSTPIP1):c.914G>C (p.Cys305Ser)
NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser) rs374204996
NM_003978.5(PSTPIP1):c.947A>G (p.His316Arg)
NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)
NM_003978.5(PSTPIP1):c.951_954dup (p.Pro319fs)
NM_003978.5(PSTPIP1):c.962C>T (p.Thr321Ile)
NM_003978.5(PSTPIP1):c.985+12C>G
NM_003978.5(PSTPIP1):c.985+6G>A
NM_003978.5(PSTPIP1):c.985+7G>A
NM_003978.5(PSTPIP1):c.993A>G (p.Thr331=)
NM_003978.5(PSTPIP1):c.995A>T (p.Glu332Val)
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.179A>G (p.Lys60Arg) rs2039348646
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn) rs2140097408
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
NM_004364.5(CEBPA):c.*31G>C rs2145257862
NM_004364.5(CEBPA):c.*6G>A rs2145257960
NM_004364.5(CEBPA):c.*86C>T rs991316142
NM_004364.5(CEBPA):c.*87G>A rs1967150654
NM_004364.5(CEBPA):c.*93T>G rs1600020107
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly) rs2145258387
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser) rs996435066
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val) rs1967158283
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs) rs1967158182
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His) rs1264760427
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu) rs1967157714
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg) rs1967157361
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp) rs1238054852
NM_004364.5(CEBPA):c.103del (p.Arg35fs)
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro) rs1060502117
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln) rs1967200345
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu) rs373210526
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr) rs1317158199
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu) rs1060502122
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp) rs1358286265
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val) rs1358286265
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr) rs543441756
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser) rs1967200117
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp) rs1162154287
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val) rs577659401
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr) rs1404014711
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp) rs1967199337
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala) rs1967199149
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu) rs1060502125
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val) rs1967198676
NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser) rs1382321984
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe) rs2145264332
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del) rs1967197350
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala) rs2145264273
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
NM_004364.5(CEBPA):c.13G>C (p.Asp5His) rs2145265106
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val) rs1444506221
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr) rs2145264153
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala) rs1555742334
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala) rs1278513408
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser) rs1278513408
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) rs1967196253
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val) rs1600024079
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser) rs777090929
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile) rs1600024682
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp) rs1967195766
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
NM_004364.5(CEBPA):c.174C>G (p.His58Gln) rs878854699
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser) rs1060502120
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val) rs558462037
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met) rs1967195162
NM_004364.5(CEBPA):c.187G>C (p.Asp63His) rs1452063514
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val) rs1600023975
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr) rs1967194734
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr) rs2145263768
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln) rs1600023907
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu) rs1600023907
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr) rs1555742260
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser) rs2145263697
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys) rs1555742258
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del) rs1600023841
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn) rs2145263642
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu) rs949548349
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val) rs2145263620
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys) rs1600024672
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln) rs1967193304
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly) rs1367071880
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg) rs1424809396
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu) rs1424468512
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro) rs1967192346
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg) rs2145263423
NM_004364.5(CEBPA):c.265_267del (p.Glu89del) rs747773004
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr) rs1600023742
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu) rs2145265055
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys) rs878854701
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu) rs1967191835
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly) rs1967191835
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
NM_004364.5(CEBPA):c.283G>A (p.Val95Met) rs1356845856
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu) rs1356845856
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly) rs2145263298
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser) rs1199712903
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys) rs1555742327
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu) rs1967191484
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg) rs1490895935
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met) rs1490895935
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup) rs1967191265
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser) rs1967191321
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys) rs1600023637
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg) rs1455462308
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala) rs1358539228
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp) rs2145263144
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser) rs1216191482
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup) rs1420856782
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup) rs1568420047
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu) rs1555742225
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr) rs1555742325
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser) rs1555742325
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg) rs1967204111
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu) rs1967204111
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu) rs2145262888
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser) rs2145262821
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val) rs2145262747
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile) rs902740061
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu) rs902740061
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup) rs2145262720
NM_004364.5(CEBPA):c.358A>G (p.Met120Val) rs1555742209
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala) rs1967187823
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser) rs1967187823
NM_004364.5(CEBPA):c.362C>A (p.Pro121His) rs1967187752
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg) rs1013724730
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala) rs1311096326
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val) rs1600023321
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala) rs2145262546
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser) rs1055210725
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr) rs961496947
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala) rs961496947
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser) rs961496947
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg) rs878854702
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu) rs878854702
NM_004364.5(CEBPA):c.386C>A (p.Pro129His) rs1600023223
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys) rs919904139
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg) rs2145264956
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg) rs1038352346
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup) rs2145262280
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr) rs1172993204
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser) rs1172993204
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly) rs1967185191
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro) rs2145262262
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg) rs2145262262
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln) rs1007915253
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg) rs1007915253
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser) rs1408671093
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys) rs1967184663
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly) rs1967184550
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp) rs1555742184
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp) rs1555742184
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu) rs2145262134
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro) rs1481195051
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu) rs1967203329
NM_004364.5(CEBPA):c.43A>G (p.Met15Val) rs1967203329
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys) rs1388478228
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys) rs2145262063
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe) rs1600023056
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp) rs2145262045
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr) rs1600024585
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp) rs1967182998
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg) rs986682061
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg) rs986682061
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp) rs986682061
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu) rs2145262013
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu) rs1967183790
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val) rs1967183790
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser) rs2145261985
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln) rs1967183728
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg) rs1967183728
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu) rs2145261853
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys) rs1347514128
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser) rs1967182334
NM_004364.5(CEBPA):c.494G>A (p.Arg165His) rs1481086547
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly) rs2145264889
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val) rs2145261721
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly) rs957167825
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr) rs1600024559
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp) rs1967181220
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe) rs1325138029
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro) rs1967180974
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys) rs1600022835
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro) rs1555742145
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu) rs1555742145
NM_004364.5(CEBPA):c.546G>C (p.Gln182His) rs2145261525
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg) rs1222448862
NM_004364.5(CEBPA):c.54C>G (p.His18Gln) rs1600024552
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu) rs2145261468
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser) rs1303742006
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu) rs1367523224
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs) rs1427211628
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro) rs1568419793
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln) rs1600022732
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser) rs2145261406
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln) rs1568419813
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis) rs1967178862
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis) rs1967178862
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp) rs1555742114
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4]) rs2145261294
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6]) rs762459325
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg) rs1247330890
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro) rs1555742103
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala) rs1967177805
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg) rs1487598012
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr) rs1213752306
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
NM_004364.5(CEBPA):c.585C>G (p.His195Gln) rs2145261171
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu) rs1568419745
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr) rs2145261086
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser) rs2145261086
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr) rs1308416905
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu) rs1060502118
NM_004364.5(CEBPA):c.598C>G (p.His200Asp) rs2145261016
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val) rs1316179719
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
NM_004364.5(CEBPA):c.60G>C (p.Gln20His) rs1060502123
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala) rs1600022363
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
NM_004364.5(CEBPA):c.614A>G (p.His205Arg) rs1568419698
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu) rs2145260930
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile) rs890855027
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr) rs1568419687
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro) rs1568419687
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser) rs1568419687
NM_004364.5(CEBPA):c.634C>G (p.His212Asp) rs1433126196
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr) rs1433126196
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
NM_004364.5(CEBPA):c.635A>G (p.His212Arg) rs1967174956
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter) rs1967174687
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val) rs1967174628
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala) rs1967174429
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr) rs770636941
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile) rs1555742071
NM_004364.5(CEBPA):c.655C>A (p.His219Asn) rs1568419664
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu) rs2145260807
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser) rs1568419654
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp) rs2145260788
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu) rs1241253530
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr) rs1478319097
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser) rs1478319097
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln) rs1308550194
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala) rs1600022098
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
NM_004364.5(CEBPA):c.698C>A (p.Pro233His) rs1352573347
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp) rs2145265146
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser) rs921077083
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg) rs1967172281
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu) rs1967172281
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3]) rs1967171960
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu) rs3745972
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val) rs3745972
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu) rs2145260550
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup) rs2145260517
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro) rs2145260532
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr) rs2145260494
NM_004364.5(CEBPA):c.72C>A (p.His24Gln) rs1555742309
NM_004364.5(CEBPA):c.72C>G (p.His24Gln) rs1555742309
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr) rs957444896
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro) rs1600024440
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp) rs1967171226
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser) rs1555742056
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val) rs2145264688
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly) rs1382832060
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr) rs1967170735
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe) rs2145260308
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg) rs1967170243
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu) rs2145260264
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
NM_004364.5(CEBPA):c.780C>A (p.His260Gln) rs1429055509
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg) rs1184283480
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu) rs747881336
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met) rs1555742019
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
NM_004364.5(CEBPA):c.797del (p.Ser266fs) rs2145260029
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly) rs1967201448
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser) rs1568419433
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys) rs1568419433
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr) rs2145264644
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr) rs756632245
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser) rs756632245
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu) rs2145259941
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly) rs1403352822
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val) rs1162467731
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg) rs111662895
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val) rs767673311
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg) rs757273086
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter) rs1269133775
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr) rs1967166324
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly) rs1568419375
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn) rs2145264621
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys) rs1002344182
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp) rs376856647
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu) rs2145259628
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser) rs2145264604
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp) rs971619935
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro) rs1064794962
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter) rs1967164835
NM_004364.5(CEBPA):c.872G>A (p.Arg291His) rs1967164761
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser) rs776590829
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser) rs1555742305
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu) rs1600021258
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs) rs1600021166
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn) rs1967163668
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr) rs867994533
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu) rs747606716
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg) rs1479225242
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
NM_004364.5(CEBPA):c.921_938del (p.Asn307_Gln312del)
NM_004364.5(CEBPA):c.922G>A (p.Val308Met) rs1182945213
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu) rs1182945213
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala) rs1568419235
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter) rs1967162539
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu) rs2145258913
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser) rs1348778034
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro) rs2145258767
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg) rs1555741962
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly) rs1555741962
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn) rs2145258655
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile) rs2145258643
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu) rs903305652
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu) rs1421674520
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser) rs781549846
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
NM_004364.5(CEBPA):c.982_985del (p.Val328fs) rs1967160131
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys) rs1568419162
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro) rs1555741952
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
NM_004371.4(COPA):c.1031T>A (p.Leu344Gln)
NM_004371.4(COPA):c.1040A>G (p.Asn347Ser)
NM_004371.4(COPA):c.1070_1072dup (p.Leu357dup) rs1658978401
NM_004371.4(COPA):c.1073G>A (p.Arg358Gln) rs769060273
NM_004371.4(COPA):c.1079G>A (p.Gly360Asp)
NM_004371.4(COPA):c.1109A>C (p.Tyr370Ser) rs1658920265
NM_004371.4(COPA):c.110A>C (p.Asp37Ala)
NM_004371.4(COPA):c.1132C>T (p.Leu378=)
NM_004371.4(COPA):c.115C>T (p.Arg39Trp)
NM_004371.4(COPA):c.1203C>A (p.Asp401Glu)
NM_004371.4(COPA):c.1213C>A (p.Pro405Thr)
NM_004371.4(COPA):c.1219+5G>A
NM_004371.4(COPA):c.1222C>T (p.Pro408Ser)
NM_004371.4(COPA):c.1255G>A (p.Val419Ile)
NM_004371.4(COPA):c.1265C>T (p.Ala422Val) rs1658816918
NM_004371.4(COPA):c.1270A>G (p.Asn424Asp)
NM_004371.4(COPA):c.1291C>T (p.Arg431Trp)
NM_004371.4(COPA):c.1302G>A (p.Ser434=)
NM_004371.4(COPA):c.1303-3C>T rs1658789926
NM_004371.4(COPA):c.1303C>A (p.Leu435Ile) rs1300223116
NM_004371.4(COPA):c.1363G>A (p.Glu455Lys) rs2101837690
NM_004371.4(COPA):c.1367TCT[1] (p.Phe457del) rs2101837675
NM_004371.4(COPA):c.1385G>A (p.Gly462Asp) rs2101837649
NM_004371.4(COPA):c.1403A>T (p.Asp468Val)
NM_004371.4(COPA):c.1429G>A (p.Val477Ile)
NM_004371.4(COPA):c.1430T>C (p.Val477Ala)
NM_004371.4(COPA):c.1437G>A (p.Gln479=)
NM_004371.4(COPA):c.1442+8A>G
NM_004371.4(COPA):c.1456G>T (p.Val486Leu) rs1383766227
NM_004371.4(COPA):c.1472T>C (p.Val491Ala) rs1571158645
NM_004371.4(COPA):c.1505A>G (p.His502Arg) rs764189695
NM_004371.4(COPA):c.1508T>C (p.Val503Ala) rs2101836771
NM_004371.4(COPA):c.1528G>A (p.Ala510Thr)
NM_004371.4(COPA):c.1601C>T (p.Ala534Val)
NM_004371.4(COPA):c.1606G>A (p.Asp536Asn)
NM_004371.4(COPA):c.1611G>C (p.Glu537Asp)
NM_004371.4(COPA):c.1615G>T (p.Gly539Trp)
NM_004371.4(COPA):c.161T>C (p.Val54Ala)
NM_004371.4(COPA):c.1631C>A (p.Thr544Asn) rs1658752272
NM_004371.4(COPA):c.1645A>G (p.Ile549Val)
NM_004371.4(COPA):c.166G>A (p.Gly56Ser)
NM_004371.4(COPA):c.1690C>G (p.Leu564Val)
NM_004371.4(COPA):c.1706A>G (p.Tyr569Cys)
NM_004371.4(COPA):c.1732G>A (p.Val578Ile)
NM_004371.4(COPA):c.1735T>C (p.Tyr579His)
NM_004371.4(COPA):c.1759C>T (p.Pro587Ser) rs1272309771
NM_004371.4(COPA):c.1765G>A (p.Val589Ile)
NM_004371.4(COPA):c.1772C>A (p.Thr591Asn) rs1032077330
NM_004371.4(COPA):c.1783A>G (p.Thr595Ala) rs2101829389
NM_004371.4(COPA):c.1814A>G (p.Asn605Ser)
NM_004371.4(COPA):c.1849A>G (p.Asn617Asp) rs1658504046
NM_004371.4(COPA):c.1857A>T (p.Lys619Asn)
NM_004371.4(COPA):c.1874T>C (p.Ile625Thr) rs2101829131
NM_004371.4(COPA):c.1898_1899delinsCT (p.Gly633Ala)
NM_004371.4(COPA):c.1943G>T (p.Arg648Leu) rs746774599
NM_004371.4(COPA):c.1951C>G (p.Leu651Val)
NM_004371.4(COPA):c.1962G>C (p.Glu654Asp) rs932482882
NM_004371.4(COPA):c.1975G>C (p.Glu659Gln)
NM_004371.4(COPA):c.1984C>G (p.Leu662Val) rs1014100360
NM_004371.4(COPA):c.2010C>A (p.Asp670Glu)
NM_004371.4(COPA):c.2012A>G (p.Lys671Arg)
NM_004371.4(COPA):c.2089A>G (p.Thr697Ala)
NM_004371.4(COPA):c.2149C>T (p.Arg717Cys) rs555657245
NM_004371.4(COPA):c.2177G>A (p.Arg726Lys) rs2101827483
NM_004371.4(COPA):c.2197T>C (p.Tyr733His)
NM_004371.4(COPA):c.2213A>G (p.Tyr738Cys)
NM_004371.4(COPA):c.2239C>A (p.Arg747=)
NM_004371.4(COPA):c.225T>G (p.Ile75Met)
NM_004371.4(COPA):c.2263+3A>G
NM_004371.4(COPA):c.2263+4A>G rs774007795
NM_004371.4(COPA):c.2276A>G (p.Tyr759Cys) rs766436110
NM_004371.4(COPA):c.228+17A>G
NM_004371.4(COPA):c.228+5A>G rs766246693
NM_004371.4(COPA):c.2284G>T (p.Ala762Ser)
NM_004371.4(COPA):c.229-3C>T rs769582641
NM_004371.4(COPA):c.2291C>T (p.Thr764Ile)
NM_004371.4(COPA):c.2296G>T (p.Gly766Cys) rs1658403444
NM_004371.4(COPA):c.2314G>C (p.Glu772Gln) rs1334352247
NM_004371.4(COPA):c.2315A>G (p.Glu772Gly)
NM_004371.4(COPA):c.2317A>C (p.Ser773Arg) rs750280942
NM_004371.4(COPA):c.2317A>G (p.Ser773Gly) rs750280942
NM_004371.4(COPA):c.2326G>A (p.Glu776Lys)
NM_004371.4(COPA):c.2329A>T (p.Thr777Ser) rs2101825999
NM_004371.4(COPA):c.2330C>T (p.Thr777Ile) rs913037992
NM_004371.4(COPA):c.2349G>C (p.Glu783Asp) rs1658401288
NM_004371.4(COPA):c.2375C>T (p.Ala792Val)
NM_004371.4(COPA):c.2398C>T (p.Pro800Ser) rs1557861270
NM_004371.4(COPA):c.2414A>G (p.Asp805Gly)
NM_004371.4(COPA):c.2440T>C (p.Ser814Pro)
NM_004371.4(COPA):c.2476+5G>A
NM_004371.4(COPA):c.2476+6T>A
NM_004371.4(COPA):c.2476+9C>T rs758402711
NM_004371.4(COPA):c.2483GAG[1] (p.Gly829del)
NM_004371.4(COPA):c.2486G>A (p.Gly829Glu)
NM_004371.4(COPA):c.2498C>T (p.Ala833Val) rs746722049
NM_004371.4(COPA):c.2504TTGACA[1] (p.835ID[1]) rs772631508
NM_004371.4(COPA):c.2508C>A (p.Asp836Glu) rs771649069
NM_004371.4(COPA):c.2511T>G (p.Ile837Met)
NM_004371.4(COPA):c.2513A>C (p.Asp838Ala)
NM_004371.4(COPA):c.2522G>A (p.Gly841Asp)
NM_004371.4(COPA):c.2526A>G (p.Thr842=) rs1658347201
NM_004371.4(COPA):c.2536G>A (p.Gly846Arg) rs777487139
NM_004371.4(COPA):c.2539G>A (p.Glu847Lys) rs1658346694
NM_004371.4(COPA):c.2543A>T (p.Asp848Val)
NM_004371.4(COPA):c.2556G>T (p.Gln852His) rs1658345672
NM_004371.4(COPA):c.2559G>T (p.Leu853Phe)
NM_004371.4(COPA):c.2560G>A (p.Asp854Asn)
NM_004371.4(COPA):c.2575G>A (p.Val859Met) rs540161688
NM_004371.4(COPA):c.2598_2600del (p.Asp868del)
NM_004371.4(COPA):c.2602G>A (p.Asp868Asn)
NM_004371.4(COPA):c.2608C>T (p.Leu870Phe) rs1222094117
NM_004371.4(COPA):c.2646AGA[2] (p.Glu884del) rs778904236
NM_004371.4(COPA):c.2666C>G (p.Pro889Arg) rs2101824120
NM_004371.4(COPA):c.2680A>G (p.Ile894Val) rs1370641046
NM_004371.4(COPA):c.2684C>T (p.Ser895Phe) rs1396829399
NM_004371.4(COPA):c.2686C>T (p.Pro896Ser)
NM_004371.4(COPA):c.2731A>G (p.Thr911Ala) rs1658305088
NM_004371.4(COPA):c.2749A>C (p.Thr917Pro) rs751116790
NM_004371.4(COPA):c.2754+5G>A
NM_004371.4(COPA):c.2754G>A (p.Gln918=)
NM_004371.4(COPA):c.2755A>C (p.Ile919Leu)
NM_004371.4(COPA):c.2762G>A (p.Cys921Tyr)
NM_004371.4(COPA):c.2765A>G (p.Asn922Ser) rs1658297298
NM_004371.4(COPA):c.2773C>G (p.Gln925Glu)
NM_004371.4(COPA):c.2794C>G (p.Leu932Val)
NM_004371.4(COPA):c.2804C>G (p.Ser935Cys) rs1658296082
NM_004371.4(COPA):c.2821C>T (p.Arg941Trp)
NM_004371.4(COPA):c.2823+3A>G rs778388338
NM_004371.4(COPA):c.2824C>T (p.Leu942Phe)
NM_004371.4(COPA):c.2894G>T (p.Arg965Leu)
NM_004371.4(COPA):c.2899C>T (p.Arg967Cys)
NM_004371.4(COPA):c.2918T>C (p.Leu973Pro) rs2101821475
NM_004371.4(COPA):c.2930C>A (p.Pro977His)
NM_004371.4(COPA):c.2930C>T (p.Pro977Leu)
NM_004371.4(COPA):c.2932T>A (p.Ser978Thr)
NM_004371.4(COPA):c.2935A>T (p.Met979Leu)
NM_004371.4(COPA):c.293C>T (p.Thr98Ile) rs2101874699
NM_004371.4(COPA):c.2953C>T (p.Arg985Cys)
NM_004371.4(COPA):c.2954G>A (p.Arg985His)
NM_004371.4(COPA):c.295A>G (p.Thr99Ala)
NM_004371.4(COPA):c.2974C>G (p.Leu992Val) rs1658261376
NM_004371.4(COPA):c.2981A>G (p.Asn994Ser) rs1658260963
NM_004371.4(COPA):c.2983G>A (p.Gly995Ser) rs2101820932
NM_004371.4(COPA):c.2998G>A (p.Gly1000Ser)
NM_004371.4(COPA):c.3001C>A (p.Leu1001Met)
NM_004371.4(COPA):c.301T>C (p.Phe101Leu)
NM_004371.4(COPA):c.302T>C (p.Phe101Ser) rs2101874685
NM_004371.4(COPA):c.305A>G (p.His102Arg) rs2101874672
NM_004371.4(COPA):c.307C>T (p.His103Tyr)
NM_004371.4(COPA):c.309+5G>A
NM_004371.4(COPA):c.309+6T>C
NM_004371.4(COPA):c.3100C>A (p.Leu1034Ile) rs2101820791
NM_004371.4(COPA):c.3119T>C (p.Val1040Ala)
NM_004371.4(COPA):c.3134_3135del (p.Gln1045fs)
NM_004371.4(COPA):c.3147+4G>A rs1571147652
NM_004371.4(COPA):c.3148-3C>T
NM_004371.4(COPA):c.3148-9C>A rs1658248308
NM_004371.4(COPA):c.314A>G (p.Tyr105Cys)
NM_004371.4(COPA):c.3196G>A (p.Val1066Met)
NM_004371.4(COPA):c.3247C>T (p.Arg1083Cys)
NM_004371.4(COPA):c.3248G>A (p.Arg1083His) rs141211632
NM_004371.4(COPA):c.3258+6A>G
NM_004371.4(COPA):c.3317G>A (p.Arg1106His)
NM_004371.4(COPA):c.3331C>A (p.Leu1111Met) rs181135283
NM_004371.4(COPA):c.3344T>G (p.Leu1115Arg)
NM_004371.4(COPA):c.3376C>T (p.Arg1126Trp)
NM_004371.4(COPA):c.337G>A (p.Asp113Asn) rs2101873058
NM_004371.4(COPA):c.3391C>T (p.Leu1131Phe)
NM_004371.4(COPA):c.3394G>A (p.Gly1132Arg)
NM_004371.4(COPA):c.3394G>C (p.Gly1132Arg)
NM_004371.4(COPA):c.3413C>A (p.Ala1138Asp)
NM_004371.4(COPA):c.3421-6C>T rs2101818690
NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile) rs1389932827
NM_004371.4(COPA):c.3446A>G (p.Glu1149Gly)
NM_004371.4(COPA):c.3476A>G (p.Asn1159Ser)
NM_004371.4(COPA):c.3512C>T (p.Ala1171Val) rs1189969466
NM_004371.4(COPA):c.3518A>G (p.Tyr1173Cys)
NM_004371.4(COPA):c.3532C>T (p.Arg1178Cys)
NM_004371.4(COPA):c.3541C>G (p.Pro1181Ala)
NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn) rs1265302722
NM_004371.4(COPA):c.3615A>G (p.Thr1205=)
NM_004371.4(COPA):c.3652A>G (p.Ile1218Val)
NM_004371.4(COPA):c.3653T>C (p.Ile1218Thr) rs2101817753
NM_004371.4(COPA):c.3654_3655del (p.Ile1218fs)
NM_004371.4(COPA):c.3664C>T (p.Gln1222Ter)
NM_004371.4(COPA):c.385T>C (p.Cys129Arg) rs1647631957
NM_004371.4(COPA):c.386+7C>T rs1488664481
NM_004371.4(COPA):c.402C>A (p.His134Gln) rs1647575840
NM_004371.4(COPA):c.404A>G (p.Asn135Ser)
NM_004371.4(COPA):c.429C>A (p.Phe143Leu)
NM_004371.4(COPA):c.47G>A (p.Ser16Asn) rs1647979140
NM_004371.4(COPA):c.496+15T>G
NM_004371.4(COPA):c.518C>T (p.Ser173Phe)
NM_004371.4(COPA):c.519_521del (p.Pro174del)
NM_004371.4(COPA):c.527C>T (p.Ala176Val)
NM_004371.4(COPA):c.531G>A (p.Val177=) rs1659465313
NM_004371.4(COPA):c.563A>T (p.Asp188Val) rs770815634
NM_004371.4(COPA):c.617G>A (p.Arg206His) rs934972773
NM_004371.4(COPA):c.646A>T (p.Thr216Ser)
NM_004371.4(COPA):c.647C>T (p.Thr216Ile) rs2101860231
NM_004371.4(COPA):c.67T>C (p.Trp23Arg) rs1419799952
NM_004371.4(COPA):c.680G>A (p.Arg227His) rs1659391902
NM_004371.4(COPA):c.697C>T (p.Arg233Cys)
NM_004371.4(COPA):c.700A>G (p.Met234Val) rs2101860133
NM_004371.4(COPA):c.718T>A (p.Trp240Arg) rs1659063174
NM_004371.4(COPA):c.722A>C (p.Glu241Ala) rs1557868201
NM_004371.4(COPA):c.725T>A (p.Val242Asp) rs2101847465
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004371.4(COPA):c.731C>T (p.Thr244Ile)
NM_004371.4(COPA):c.744T>A (p.His248Gln)
NM_004371.4(COPA):c.766G>T (p.Val256Phe)
NM_004371.4(COPA):c.772C>T (p.His258Tyr) rs1659060523
NM_004371.4(COPA):c.790A>G (p.Ile264Val) rs1659059803
NM_004371.4(COPA):c.817A>G (p.Ile273Val)
NM_004371.4(COPA):c.821G>A (p.Arg274Gln)
NM_004371.4(COPA):c.841C>T (p.Arg281Trp)
NM_004371.4(COPA):c.862C>T (p.Arg288Cys)
NM_004371.4(COPA):c.874G>T (p.Asp292Tyr) rs1659021909
NM_004371.4(COPA):c.887T>A (p.Val296Asp) rs2101845935
NM_004371.4(COPA):c.916T>C (p.Phe306Leu)
NM_004371.4(COPA):c.925+2T>C rs1388547930
NM_004371.4(COPA):c.926-5_926-2dup
NM_004371.4(COPA):c.944T>C (p.Ile315Thr)
NM_004371.4(COPA):c.990C>T (p.Gly330=) rs1658980972
NM_004371.4(COPA):c.992A>G (p.Asn331Ser)
NM_004371.4(COPA):c.994A>C (p.Met332Leu)
NM_004612.4(TGFBR1):c.*1080A>C rs1461290743
NM_004612.4(TGFBR1):c.*1159T>G rs1827950323
NM_004612.4(TGFBR1):c.*1223A>G rs886063229
NM_004612.4(TGFBR1):c.*1250G>T rs886063230
NM_004612.4(TGFBR1):c.*1269T>G rs189032587
NM_004612.4(TGFBR1):c.*1368C>A rs886063231
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1792C>A rs1827968273
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*2101T>G rs1827975718
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2104_*2105insGT rs1554703244
NM_004612.4(TGFBR1):c.*2105dup rs200529894
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2411G>C rs11568813
NM_004612.4(TGFBR1):c.*247T>C rs1827918720
NM_004612.4(TGFBR1):c.*250T>A rs1827918871
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2554A>T rs1827986039
NM_004612.4(TGFBR1):c.*2634TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3095A>G rs1828003249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*339G>T rs199861787
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3839A>C rs906560184
NM_004612.4(TGFBR1):c.*3881G>T rs886063254
NM_004612.4(TGFBR1):c.*3C>A
NM_004612.4(TGFBR1):c.*4055G>T rs886063255
NM_004612.4(TGFBR1):c.*4088G>T rs886063256
NM_004612.4(TGFBR1):c.*408C>T rs941101059
NM_004612.4(TGFBR1):c.*4278C>T rs200414044
NM_004612.4(TGFBR1):c.*4445C>G rs202020004
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*456G>T rs200245567
NM_004612.4(TGFBR1):c.*469T>C rs1827927207
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*502T>G rs201269197
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.-43C>A rs886063219
NM_004612.4(TGFBR1):c.-56G>A rs1826365648
NM_004612.4(TGFBR1):c.1000T>G (p.Leu334Val)
NM_004612.4(TGFBR1):c.1017C>G (p.Ile339Met)
NM_004612.4(TGFBR1):c.1019del (p.Leu340fs)
NM_004612.4(TGFBR1):c.1046T>C (p.Ile349Thr)
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1073A>G (p.His358Arg)
NM_004612.4(TGFBR1):c.1131-11A>T
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys) rs2118826506
NM_004612.4(TGFBR1):c.117C>T (p.His39=)
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly) rs1827802075
NM_004612.4(TGFBR1):c.1201A>G (p.Ile401Val)
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile) rs1827803560
NM_004612.4(TGFBR1):c.1224C>G (p.Phe408Leu)
NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)
NM_004612.4(TGFBR1):c.1241G>A (p.Arg414Gln)
NM_004612.4(TGFBR1):c.1249A>T (p.Ile417Phe)
NM_004612.4(TGFBR1):c.1253G>C (p.Gly418Ala)
NM_004612.4(TGFBR1):c.1255+7del
NM_004612.4(TGFBR1):c.1256-3C>A rs755431191
NM_004612.4(TGFBR1):c.1283A>G (p.Tyr428Cys)
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val) rs1827845172
NM_004612.4(TGFBR1):c.1382G>A (p.Cys461Tyr)
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1399A>G (p.Met467Val)
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1426T>A (p.Tyr476Asn)
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1451C>G (p.Thr484Arg)
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) rs1171355842
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile) rs1827124531
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln) rs1368326650
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) rs1827129569
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) rs1360080681
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
NM_004612.4(TGFBR1):c.308A>G (p.Gln103Arg)
NM_004612.4(TGFBR1):c.313dup (p.His105fs)
NM_004612.4(TGFBR1):c.324A>C (p.Lys108Asn)
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val) rs1244225435
NM_004612.4(TGFBR1):c.344-15G>A
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) rs2118625345
NM_004612.4(TGFBR1):c.367C>G (p.Pro123Ala)
NM_004612.4(TGFBR1):c.397C>T (p.Pro133Ser)
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) rs1827269407
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.421C>T (p.Leu141Phe)
NM_004612.4(TGFBR1):c.463C>T (p.His155Tyr)
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) rs147146713
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.551T>C (p.Met184Thr)
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val) rs2118632040
NM_004612.4(TGFBR1):c.575-4_575-3dup
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.592C>G (p.Gln198Glu)
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.680A>C (p.Glu227Ala)
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
NM_004612.4(TGFBR1):c.701T>G (p.Phe234Cys)
NM_004612.4(TGFBR1):c.730C>G (p.Arg244Gly)
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) rs2118718530
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.760T>G (p.Leu254Val)
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004612.4(TGFBR1):c.805+5_805+6del rs2118724763
NM_004612.4(TGFBR1):c.805+5del rs1300823570
NM_004612.4(TGFBR1):c.806-14A>G
NM_004612.4(TGFBR1):c.808A>G (p.Asn270Asp)
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.847_849del (p.His283del) rs1588590301
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.848A>T (p.His283Leu)
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg) rs1588590331
NM_004612.4(TGFBR1):c.872A>G (p.Tyr291Cys)
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
NM_004612.4(TGFBR1):c.892A>C (p.Thr298Pro)
NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly) rs2118779242
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser) rs1209722877
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe) rs1827655038
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.98-1G>A
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val) rs1554698880
NM_004612.4(TGFBR1):c.993T>C (p.His331=)
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly) rs2118804018
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_004836.7(EIF2AK3):c.1887-9C>G rs2104414509
NM_004895.4(NLRP3):c.*324_*327delGTCT rs886506882
NM_004895.4(NLRP3):c.*328_*331delAACT rs1057515460
NM_004895.4(NLRP3):c.*378A>C rs1664772078
NM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn) rs148208826
NM_004944.4(DNASE1L3):c.112G>C (p.Asp38His) rs148208826
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)
NM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu) rs374838291
NM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr) rs563166164
NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala) rs1313460433
NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met) rs76440799
NM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly) rs202183427
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) rs2130546358
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del) rs1302128286
NM_005188.4(CBL):c.-125_-116delinsT rs886047763
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) rs980503623
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln) rs143034856
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2435-1_2435del rs749424087
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) rs1950085952
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) rs376536789
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)
NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln) rs2128933753
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
NM_005373.3(MPL):c.1468+7C>T
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys) rs1647078220
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
NM_005373.3(MPL):c.224G>A (p.Arg75His)
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
NM_005373.3(MPL):c.417C>T (p.Ile139=)
NM_005373.3(MPL):c.445G>A (p.Glu149Lys) rs267598615
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005430.4(WNT1):c.726G>A (p.Val242=) rs1324762785
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala) rs1316660217
NM_005529.7(HSPG2):c.12532+4C>T rs762689360
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=) rs770532300
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=) rs2152711496
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=) rs765768172
NM_005546.4(ITK):c.1588T>G (p.Phe530Val) rs2113776036
NM_005546.4(ITK):c.439G>A (p.Asp147Asn) rs1463419892
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) rs1657192119
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe) rs757389021
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) rs2144276135
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)
NM_005902.4(SMAD3):c.*1326A>G rs886051392
NM_005902.4(SMAD3):c.*1355C>G rs886051393
NM_005902.4(SMAD3):c.*1443C>A rs886051394
NM_005902.4(SMAD3):c.*1493C>A rs886051395
NM_005902.4(SMAD3):c.*1515C>A rs886051396
NM_005902.4(SMAD3):c.*1548G>T rs886051397
NM_005902.4(SMAD3):c.*1597G>C rs886051398
NM_005902.4(SMAD3):c.*1614C>A rs886051399
NM_005902.4(SMAD3):c.*1641T>G rs886051400
NM_005902.4(SMAD3):c.*1644T>G rs886051401
NM_005902.4(SMAD3):c.*1695G>T rs886051402
NM_005902.4(SMAD3):c.*1749G>T rs886051403
NM_005902.4(SMAD3):c.*1767G>C rs533635017
NM_005902.4(SMAD3):c.*1784G>T rs886051404
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1800_*1803del rs141408841
NM_005902.4(SMAD3):c.*1820G>T rs886051407
NM_005902.4(SMAD3):c.*1831G>T rs886051408
NM_005902.4(SMAD3):c.*1853C>A rs886051409
NM_005902.4(SMAD3):c.*1915G>A rs961459942
NM_005902.4(SMAD3):c.*195G>T rs886051381
NM_005902.4(SMAD3):c.*2026T>C rs886051410
NM_005902.4(SMAD3):c.*2038G>T rs886051411
NM_005902.4(SMAD3):c.*2245C>A rs886051412
NM_005902.4(SMAD3):c.*2251C>A rs886051413
NM_005902.4(SMAD3):c.*2291C>A rs886051414
NM_005902.4(SMAD3):c.*2303G>C rs886051415
NM_005902.4(SMAD3):c.*2453C>A rs886051416
NM_005902.4(SMAD3):c.*2476A>C rs886051417
NM_005902.4(SMAD3):c.*2573G>T rs886051418
NM_005902.4(SMAD3):c.*2580C>A rs886051419
NM_005902.4(SMAD3):c.*2596G>T rs886051420
NM_005902.4(SMAD3):c.*2891C>A rs886051421
NM_005902.4(SMAD3):c.*292G>T rs886051382
NM_005902.4(SMAD3):c.*2963A>C rs886051422
NM_005902.4(SMAD3):c.*304C>T rs565932125
NM_005902.4(SMAD3):c.*30C>T rs201206131
NM_005902.4(SMAD3):c.*3120G>T rs886051423
NM_005902.4(SMAD3):c.*3147G>T rs886051425
NM_005902.4(SMAD3):c.*3148T>C rs886051426
NM_005902.4(SMAD3):c.*3174del rs886051427
NM_005902.4(SMAD3):c.*3174dup rs886051427
NM_005902.4(SMAD3):c.*3661G>A rs886051430
NM_005902.4(SMAD3):c.*3738C>T rs886051432
NM_005902.4(SMAD3):c.*4195G>A rs886051433
NM_005902.4(SMAD3):c.*4556C>A rs886051435
NM_005902.4(SMAD3):c.*4556C>T rs886051435
NM_005902.4(SMAD3):c.*495C>A rs886051383
NM_005902.4(SMAD3):c.*552G>T rs769408016
NM_005902.4(SMAD3):c.*573G>T rs886051384
NM_005902.4(SMAD3):c.*594C>T rs1963353753
NM_005902.4(SMAD3):c.*632C>A rs886051386
NM_005902.4(SMAD3):c.*656C>A rs886051387
NM_005902.4(SMAD3):c.*678C>A rs886051388
NM_005902.4(SMAD3):c.*937T>C rs1272484755
NM_005902.4(SMAD3):c.*981C>A rs886051390
NM_005902.4(SMAD3):c.-100C>T rs886051379
NM_005902.4(SMAD3):c.-139C>G rs1595881947
NM_005902.4(SMAD3):c.-164A>C rs886051378
NM_005902.4(SMAD3):c.-168C>A rs886051377
NM_005902.4(SMAD3):c.-217C>T rs886051376
NM_005902.4(SMAD3):c.-240G>T rs886051375
NM_005902.4(SMAD3):c.-280C>A rs886051372
NM_005902.4(SMAD3):c.-38C>T rs909267391
NM_005902.4(SMAD3):c.-5C>A
NM_005902.4(SMAD3):c.-5C>T
NM_005902.4(SMAD3):c.-5del
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1040A>C (p.Glu347Ala)
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
NM_005902.4(SMAD3):c.1064C>T (p.Ser355Leu) rs752776110
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
NM_005902.4(SMAD3):c.110G>A (p.Ser37Asn)
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys) rs2140323808
NM_005902.4(SMAD3):c.1154+3C>A
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) rs1567005489
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
NM_005902.4(SMAD3):c.1199T>C (p.Leu400Pro)
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) rs1555414491
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His) rs762012589
NM_005902.4(SMAD3):c.12C>T (p.Ile4=) rs1595882053
NM_005902.4(SMAD3):c.155A>G (p.Glu52Gly)
NM_005902.4(SMAD3):c.164T>G (p.Ile55Ser)
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) rs1959915488
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
NM_005902.4(SMAD3):c.187A>G (p.Lys63Glu)
NM_005902.4(SMAD3):c.206+4G>T
NM_005902.4(SMAD3):c.207-26806G>T
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) rs750707381
NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.269G>T (p.Arg90Leu)
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) rs1962536528
NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met) rs1595941782
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg) rs1962538901
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
NM_005902.4(SMAD3):c.344T>C (p.Met115Thr)
NM_005902.4(SMAD3):c.380A>G (p.Tyr127Cys)
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) rs2140294309
NM_005902.4(SMAD3):c.401-6G>C
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.455C>T (p.Pro152Leu)
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val) rs2140188791
NM_005902.4(SMAD3):c.484G>A (p.Glu162Lys)
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser) rs1254152984
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
NM_005902.4(SMAD3):c.533-10T>C
NM_005902.4(SMAD3):c.541C>T (p.Pro181Ser)
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly) rs1416321033
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp) rs1962720069
NM_005902.4(SMAD3):c.614C>T (p.Pro205Leu)
NM_005902.4(SMAD3):c.660C>A (p.Asp220Glu)
NM_005902.4(SMAD3):c.663_664insGGA (p.Leu221_Gln222insGly)
NM_005902.4(SMAD3):c.665_666insCAGTTACCTACTGCG (p.Gln222delinsHisSerTyrLeuLeuArg)
NM_005902.4(SMAD3):c.68A>G (p.Gln23Arg)
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.739A>T (p.Thr247Ser)
NM_005902.4(SMAD3):c.748G>A (p.Ala250Thr)
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) rs863223739
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
NM_005902.4(SMAD3):c.821T>A (p.Leu274His)
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser) rs1433790279
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.860G>T (p.Arg287Leu)
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) rs1555413991
NM_005902.4(SMAD3):c.897C>G (p.Ile299Met)
NM_005902.4(SMAD3):c.900_902dup (p.Gly301_Glu302insGly)
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.929A>G (p.Asp310Gly)
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp) rs1450927153
NM_005902.4(SMAD3):c.983C>T (p.Pro328Leu)
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
NM_006182.4(DDR2):c.2454C>G (p.Ala818=) rs1236758438
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser) rs1554833919
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) rs771121101
NM_006397.3(RNASEH2A):c.*69G>A rs969808573
NM_006397.3(RNASEH2A):c.*93A>G rs528209678
NM_006397.3(RNASEH2A):c.-69G>A rs1968991813
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys) rs2145824177
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) rs1968997110
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu) rs2145824200
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) rs1792077195
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) rs1252576410
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val) rs755133697
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe) rs2145824522
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val) rs771789854
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys) rs1969003412
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu) rs761841313
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del) rs1969003682
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser) rs2145824584
NM_006397.3(RNASEH2A):c.199+12G>T
NM_006397.3(RNASEH2A):c.199+9G>T
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp) rs754532258
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
NM_006397.3(RNASEH2A):c.226C>T (p.Arg76Trp) rs1969006970
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln) rs747608935
NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)
NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
NM_006397.3(RNASEH2A):c.261C>G (p.Asp87Glu) rs776835503
NM_006397.3(RNASEH2A):c.268G>A (p.Gly90Ser) rs773318256
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly) rs76436818
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln) rs1232764867
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met) rs1969010870
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu) rs1969011556
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu) rs1289383180
NM_006397.3(RNASEH2A):c.393G>C (p.Gln131His) rs2145825149
NM_006397.3(RNASEH2A):c.397G>A (p.Val133Met) rs1969012072
NM_006397.3(RNASEH2A):c.411+14A>G
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
NM_006397.3(RNASEH2A):c.417C>A (p.Phe139Leu) rs201413125
NM_006397.3(RNASEH2A):c.418G>A (p.Val140Met)
NM_006397.3(RNASEH2A):c.422A>G (p.Asp141Gly) rs967836212
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp) rs772640456
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) rs1968995083
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) rs1262482666
NM_006397.3(RNASEH2A):c.523G>A (p.Val175Ile)
NM_006397.3(RNASEH2A):c.528T>A (p.Ser176Arg) rs1419883149
NM_006397.3(RNASEH2A):c.530C>T (p.Ala177Val) rs2145827698
NM_006397.3(RNASEH2A):c.539T>A (p.Ile180Asn)
NM_006397.3(RNASEH2A):c.549+4A>G
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp) rs1448707577
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala) rs1969055468
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) rs748699424
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu) rs2145827897
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr) rs965949988
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro) rs2145827947
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) rs1568387884
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser) rs377244188
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.636T>C (p.Asn212=) rs2145827969
NM_006397.3(RNASEH2A):c.637+12C>G
NM_006397.3(RNASEH2A):c.637+3G>A rs1399243066
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006397.3(RNASEH2A):c.749A>C (p.Glu250Ala) rs1157218789
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His) rs955631391
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu) rs955631391
NM_006397.3(RNASEH2A):c.757A>G (p.Ile253Val)
NM_006397.3(RNASEH2A):c.759A>G (p.Ile253Met)
NM_006397.3(RNASEH2A):c.762-14C>G rs1297237306
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
NM_006397.3(RNASEH2A):c.833A>C (p.Gln278Pro)
NM_006397.3(RNASEH2A):c.836C>G (p.Ala279Gly) rs2145830509
NM_006397.3(RNASEH2A):c.838C>A (p.Arg280Ser)
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter) rs1286615636
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs) rs1969104623
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val) rs1425963270
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu) rs75037667
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly) rs2145830589
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr) rs1438193575
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu) rs1969105528
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr) rs1243574081
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala) rs775006544
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
NM_006929.4(SKIC2):c.-193A>C rs886061302
NM_006929.5(SKIC2):c.-14G>A rs886061304
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile) rs886061307
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr) rs1772553546
NM_006929.5(SKIC2):c.132C>T (p.Pro44=) rs886061306
NM_006929.5(SKIC2):c.1566G>A (p.Val522=) rs1772631304
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp) rs148748996
NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys) rs775680687
NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser) rs886061308
NM_006929.5(SKIC2):c.2052C>G (p.His684Gln) rs61761946
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr) rs762436773
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys) rs148221996
NM_006929.5(SKIC2):c.2479-7T>C rs190972540
NM_006929.5(SKIC2):c.2731+14A>C rs1772908176
NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu) rs747936095
NM_006929.5(SKIC2):c.354+15G>T rs755363139
NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs) rs1554292539
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.680_685del (p.Arg227_Ser228del) rs2146217668
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) rs778212685
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) rs1601783129
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) rs1601777776
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_012275.3(IL36RN):c.*1051T>C rs886054769
NM_012275.3(IL36RN):c.*106G>A rs182598494
NM_012275.3(IL36RN):c.*1405G>T rs1315608540
NM_012275.3(IL36RN):c.*15dup rs748582624
NM_012275.3(IL36RN):c.*1641C>G rs549754573
NM_012275.3(IL36RN):c.*1698G>A rs1379624001
NM_012275.3(IL36RN):c.*1942C>G rs886054772
NM_012275.3(IL36RN):c.*298G>A rs1685673604
NM_012275.3(IL36RN):c.*401A>C rs3180234
NM_012275.3(IL36RN):c.*401A>T rs3180234
NM_012275.3(IL36RN):c.*720G>T rs771527648
NM_012275.3(IL36RN):c.*857A>G rs886054768
NM_012275.3(IL36RN):c.*866G>A rs1685687215
NM_012275.3(IL36RN):c.-47G>A rs886054765
NM_012275.3(IL36RN):c.115+4G>A rs2105068105
NM_012275.3(IL36RN):c.123G>C (p.Glu41Asp)
NM_012275.3(IL36RN):c.123G>T (p.Glu41Asp) rs1685653783
NM_012275.3(IL36RN):c.130G>T (p.Val44Leu)
NM_012275.3(IL36RN):c.140A>T (p.Asn47Ile)
NM_012275.3(IL36RN):c.142C>A (p.Arg48=) rs151325121
NM_012275.3(IL36RN):c.164C>T (p.Ser55Phe) rs1458580125
NM_012275.3(IL36RN):c.17C>T (p.Ala6Val)
NM_012275.3(IL36RN):c.208T>C (p.Cys70Arg) rs375718709
NM_012275.3(IL36RN):c.215T>C (p.Val72Ala)
NM_012275.3(IL36RN):c.253A>G (p.Ile85Val) rs2105069719
NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys) rs1213179423
NM_012275.3(IL36RN):c.275C>T (p.Ala92Val) rs1685662918
NM_012275.3(IL36RN):c.29+3G>A rs976893250
NM_012275.3(IL36RN):c.29+5G>A rs1685595922
NM_012275.3(IL36RN):c.29+6T>C rs1685595982
NM_012275.3(IL36RN):c.291C>A (p.Ser97Arg)
NM_012275.3(IL36RN):c.30-14T>A rs886054766
NM_012275.3(IL36RN):c.305G>A (p.Arg102Gln)
NM_012275.3(IL36RN):c.322A>T (p.Thr108Ser)
NM_012275.3(IL36RN):c.329del (p.Ser110fs) rs2105069859
NM_012275.3(IL36RN):c.350C>A (p.Pro117Gln)
NM_012275.3(IL36RN):c.369G>A (p.Thr123=) rs28938778
NM_012275.3(IL36RN):c.398_413del (p.Leu133fs) rs779718440
NM_012275.3(IL36RN):c.40T>G (p.Ser14Ala) rs1191516439
NM_012275.3(IL36RN):c.418G>A (p.Gly140Ser)
NM_012275.3(IL36RN):c.418G>T (p.Gly140Cys) rs1415006327
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser) rs1424377493
NM_012275.3(IL36RN):c.422G>A (p.Gly141Asp) rs758533837
NM_012275.3(IL36RN):c.91C>A (p.Leu31Met)
NM_012275.3(IL36RN):c.97G>A (p.Ala33Thr)
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp) rs145874548
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu) rs771103623
NM_014314.4(RIGI):c.396_399del (p.Asn133fs) rs760088776
NM_014314.4(RIGI):c.816dup (p.Val273fs) rs781124785
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
NM_014639.4(SKIC3):c.*1C>G
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu) rs2146116896
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu) rs2063734567
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp) rs751026561
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn) rs546930607
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile) rs2148365764
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala) rs1478441405
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn) rs2063446998
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys) rs138089277
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys) rs774991764
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1154+4A>T
NM_015474.4(SAMHD1):c.1155-7T>G rs563734052
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile) rs2063439054
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) rs755673943
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser) rs2063438570
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp) rs2148364990
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr) rs2063734469
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr) rs1444630318
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
NM_015474.4(SAMHD1):c.1271-3C>T
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile) rs2148360629
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs) rs2063734360
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) rs1215408383
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu) rs751309562
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1410+4A>C
NM_015474.4(SAMHD1):c.1410+5G>T rs1601119476
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile) rs2148359709
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro) rs2063392360
NM_015474.4(SAMHD1):c.1503+3A>C
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr) rs1990240962
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu) rs1363652608
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn) rs999709360
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr) rs1046544176
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile) rs2148355946
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr) rs2148355943
NM_015474.4(SAMHD1):c.1608+6T>A rs747508625
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys) rs2148355589
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp) rs1442543580
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys) rs2148355563
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly) rs769234037
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu) rs1252711773
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr) rs1187125859
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala) rs1187125859
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile) rs2148355522
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys) rs1990225699
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn) rs1990225210
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu) rs1448113794
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg) rs1255928710
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
NM_015474.4(SAMHD1):c.1746+4G>A
NM_015474.4(SAMHD1):c.1746+4_1746+15del rs1568758975
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) rs2148352252
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) rs1990117713
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) rs1245985032
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser) rs2146160495
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) rs2148352114
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg) rs2146160474
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser) rs2063733948
NM_015474.4(SAMHD1):c.208+4G>A rs1273248542
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr) rs141599277
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg) rs149797357
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp) rs2063689102
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala) rs1277922979
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His) rs2146161012
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) rs752442185
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) rs775844501
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr) rs200703816
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser) rs765879627
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile) rs2146137354
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu) rs2063564236
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln) rs2146132117
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr) rs2146132053
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser) rs2146160927
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val) rs2146132029
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg) rs1308458054
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) rs1303667371
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) rs1568776699
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile) rs760912458
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro) rs772029258
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) rs2146127793
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) rs1235181942
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) rs778647626
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) rs2146160848
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) rs1239766590
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) rs2146160814
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=) rs774333580
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) rs2063492690
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) rs2146119399
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) rs2146119382
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp) rs1451769476
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly) rs2146117130
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val) rs774197667
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.414+2T>C
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_015967.8(PTPN22):c.1894+2T>C
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1538-5T>G rs1744464153
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+9T>A rs1561379470
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.4(PRDM5):c.650+7A>T rs751182540
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.94-10T>G rs886059045
NM_018699.4(PRDM5):c.946-9C>T rs886059042
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
NM_020529.3(NFKBIA):c.91G>A (p.Asp31Asn) rs2052769679
NM_020779.4(WDR35):c.1255+5G>A rs1034087679
NM_020779.4(WDR35):c.1833C>G (p.Asn611Lys) rs1671026684
NM_020779.4(WDR35):c.2409A>G (p.Gln803=) rs140630290
NM_020779.4(WDR35):c.658G>A (p.Val220Met) rs746602378
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr) rs2108360263
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del) rs1393630996
NM_021625.5(TRPV4):c.2421T>G (p.Tyr807Ter) rs2136417346
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val) rs2105208967
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met) rs72650664
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr) rs762847175
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) rs887114201
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser) rs1410059196
NM_022168.4(IFIH1):c.1095+1G>A rs140125523
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1095+4T>C
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val) rs587777576
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser) rs2105203313
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu) rs145520044
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg) rs1682830281
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser) rs752544919
NM_022168.4(IFIH1):c.1151G>T (p.Trp384Leu)
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His) rs1682829536
NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys)
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu) rs138611889
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile) rs374766201
NM_022168.4(IFIH1):c.1159G>T (p.Val387Phe)
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter) rs2105203236
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp) rs1304955037
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=) rs1682828092
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter) rs772585139
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala) rs111797285
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr) rs746025085
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr) rs1682827216
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val) rs762510649
NM_022168.4(IFIH1):c.1271del (p.Leu424fs) rs1180019447
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser) rs2105203031
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr) rs1682826089
NM_022168.4(IFIH1):c.1306+6T>C rs2105202990
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val) rs2105202129
NM_022168.4(IFIH1):c.1321A>T (p.Ile441Phe)
NM_022168.4(IFIH1):c.1322T>C (p.Ile441Thr)
NM_022168.4(IFIH1):c.1324A>G (p.Ile442Val)
NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs)
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile) rs1576226711
NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp) rs764763183
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu) rs147642994
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met) rs367921237
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys) rs1682808224
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val) rs2105201962
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu) rs1247355630
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
NM_022168.4(IFIH1):c.1419del (p.Glu474fs) rs2105201912
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met) rs1018712289
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His) rs753401995
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg) rs1682805179
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser) rs1485039163
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys) rs772032662
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln) rs147738489
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1524+1G>T rs898118498
NM_022168.4(IFIH1):c.1524+2T>G rs865898522
NM_022168.4(IFIH1):c.1524+5G>A
NM_022168.4(IFIH1):c.1524+5G>C
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=) rs2105200537
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg) rs770811079
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg) rs1576226013
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His) rs2105200526
NM_022168.4(IFIH1):c.1534A>G (p.Asn512Asp)
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser) rs370753836
NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile) rs2105200508
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala) rs2105200485
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr) rs764183171
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser) rs764183171
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
NM_022168.4(IFIH1):c.1641+16T>A
NM_022168.4(IFIH1):c.1641+1G>A
NM_022168.4(IFIH1):c.1641+3A>G
NM_022168.4(IFIH1):c.1642-1G>A rs1682743875
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys) rs1193030860
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys) rs111732322
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro) rs752832328
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser) rs2105198654
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs) rs1464362256
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter) rs2105198568
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1765+1del rs1227440828
NM_022168.4(IFIH1):c.1765+2T>C
NM_022168.4(IFIH1):c.1765+5T>G rs1682738622
NM_022168.4(IFIH1):c.1766C>T (p.Ala589Val)
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly) rs768993250
NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val)
NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys)
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys) rs191839015
NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys) rs963903258
NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)
NM_022168.4(IFIH1):c.1792C>T (p.Arg598Cys)
NM_022168.4(IFIH1):c.1801G>A (p.Ala601Thr)
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn) rs2105197801
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val) rs1235926337
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu) rs145818112
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile) rs1682719356
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs) rs2105197614
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
NM_022168.4(IFIH1):c.1934G>C (p.Ser645Thr)
NM_022168.4(IFIH1):c.1936G>A (p.Asp646Asn)
NM_022168.4(IFIH1):c.1936G>C (p.Asp646His)
NM_022168.4(IFIH1):c.193A>C (p.Thr65Pro)
NM_022168.4(IFIH1):c.1940A>G (p.Glu647Gly)
NM_022168.4(IFIH1):c.1943del (p.Gly648fs) rs751231371
NM_022168.4(IFIH1):c.1949A>G (p.Asp650Gly)
NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser)
NM_022168.4(IFIH1):c.194C>T (p.Thr65Ile)
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp) rs1682717892
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala) rs2105197504
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn) rs2105197482
NM_022168.4(IFIH1):c.1990A>C (p.Lys664Gln)
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.1996C>G (p.Pro666Ala)
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln) rs2105238398
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn) rs370203250
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly) rs1682715644
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs) rs2105197403
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp) rs2105238393
NM_022168.4(IFIH1):c.2021G>A (p.Arg674Lys)
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr) rs758006242
NM_022168.4(IFIH1):c.2022A>G (p.Arg674=)
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr) rs1268091953
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
NM_022168.4(IFIH1):c.2044+12A>G
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
NM_022168.4(IFIH1):c.2092_2304+447del
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) rs1682679223
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn) rs2105196747
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro) rs2105196679
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.2158C>T (p.Arg720Ter)
NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg) rs2105196666
NM_022168.4(IFIH1):c.216C>A (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.216C>G (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn) rs375745122
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala) rs1268036060
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg) rs1683544639
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp) rs765738865
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg) rs750844573
NM_022168.4(IFIH1):c.224G>C (p.Trp75Ser)
NM_022168.4(IFIH1):c.2257C>T (p.His753Tyr)
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln) rs1682675340
NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser) rs957068367
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
NM_022168.4(IFIH1):c.2280del (p.Ser760fs)
NM_022168.4(IFIH1):c.2286G>C (p.Glu762Asp)
NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala) rs766399254
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile) rs2105196465
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
NM_022168.4(IFIH1):c.2305-3C>T rs2105193842
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro) rs367851471
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe) rs2105193797
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val) rs1691096839
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del) rs2105193787
NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser)
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg) rs2105193747
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala) rs2105193712
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr) rs778884536
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe) rs1691095136
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met) rs1010120295
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys) rs2105238289
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys) rs752226580
NM_022168.4(IFIH1):c.2426T>C (p.Leu809Pro)
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala) rs1168844368
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.2454+4C>A
NM_022168.4(IFIH1):c.2454+4C>G
NM_022168.4(IFIH1):c.2454+6T>G
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
NM_022168.4(IFIH1):c.2455-1G>A
NM_022168.4(IFIH1):c.2455-6T>A rs2105192046
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu) rs74162087
NM_022168.4(IFIH1):c.247C>T (p.Leu83Phe)
NM_022168.4(IFIH1):c.2481G>C (p.Glu827Asp)
NM_022168.4(IFIH1):c.2483G>T (p.Ser828Ile)
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly)
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro) rs370618144
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr) rs1691055209
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr) rs768238624
NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro)
NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met)
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp) rs373382295
NM_022168.4(IFIH1):c.2576A>G (p.His859Arg)
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile) rs2105238259
NM_022168.4(IFIH1):c.2581del (p.Val861fs)
NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp) rs764489663
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp) rs760907862
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
NM_022168.4(IFIH1):c.2616+3A>T
NM_022168.4(IFIH1):c.2616+6G>A rs761784724
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
NM_022168.4(IFIH1):c.2617-1G>T
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022168.4(IFIH1):c.2639G>T (p.Ser880Ile)
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) rs1169761887
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu) rs2105187946
NM_022168.4(IFIH1):c.2652G>T (p.Lys884Asn)
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile) rs2105187934
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter) rs1252022173
NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe) rs1690962431
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile) rs1690962335
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu) rs763049591
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val) rs2105238199
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys) rs2105187737
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly) rs1690960964
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly) rs947699715
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu) rs747311719
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) rs374202040
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val) rs2105187108
NM_022168.4(IFIH1):c.2812del (p.Leu938fs) rs2105187112
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met) rs2105187091
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter) rs2105187079
NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)
NM_022168.4(IFIH1):c.2832del (p.Asn944fs)
NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr) rs769741397
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn) rs2105187036
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) rs748006043
NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)
NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser) rs1466752669
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg) rs1559808756
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val) rs2105186932
NM_022168.4(IFIH1):c.2898+4A>G
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter) rs1690944637
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu) rs2105186745
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)
NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)
NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)
NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile) rs74162090
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro) rs751197215
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu) rs763358277
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr) rs2105186636
NM_022168.4(IFIH1):c.2990del (p.Lys997fs) rs2105186622
NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)
NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)
NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)
NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala) rs1690942148
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr) rs1559808617
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val) rs1047156211
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022168.4(IFIH1):c.332A>G (p.His111Arg) rs2105237997
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys) rs1419235573
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter)
NM_022168.4(IFIH1):c.366G>T (p.Gln122His)
NM_022168.4(IFIH1):c.367C>A (p.Pro123Thr)
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser) rs1683538119
NM_022168.4(IFIH1):c.36C>G (p.Arg12=) rs1683553380
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met) rs139219083
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val) rs139219083
NM_022168.4(IFIH1):c.384G>C (p.Lys128Asn)
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro) rs2105237875
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro) rs1683537130
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile) rs2105237866
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn) rs1683536418
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser) rs759791512
NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe)
NM_022168.4(IFIH1):c.416T>C (p.Met139Thr)
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter) rs766508793
NM_022168.4(IFIH1):c.443A>G (p.Asp148Gly)
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp) rs2105237729
NM_022168.4(IFIH1):c.448_453+39del
NM_022168.4(IFIH1):c.454-3C>G rs2105230636
NM_022168.4(IFIH1):c.454-4A>G rs1683376303
NM_022168.4(IFIH1):c.456del (p.Ile152fs) rs1683376227
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.460G>C (p.Ala154Pro)
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp) rs372313271
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser) rs1007619458
NM_022168.4(IFIH1):c.496G>C (p.Glu166Gln)
NM_022168.4(IFIH1):c.4T>A (p.Ser2Thr)
NM_022168.4(IFIH1):c.505A>G (p.Lys169Glu)
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser) rs2105230566
NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)
NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys)
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs) rs2105238244
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro) rs189443152
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala) rs1683373192
NM_022168.4(IFIH1):c.596G>T (p.Gly199Val)
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe) rs2105230439
NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
NM_022168.4(IFIH1):c.622+3A>G
NM_022168.4(IFIH1):c.623-1G>A
NM_022168.4(IFIH1):c.626T>C (p.Ile209Thr)
NM_022168.4(IFIH1):c.629A>C (p.Glu210Ala)
NM_022168.4(IFIH1):c.633T>A (p.Asn211Lys)
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser) rs553228814
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr) rs2105226887
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala) rs1396124415
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter) rs1346345254
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr) rs753380568
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter) rs1399614346
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro) rs1392840230
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala) rs771145026
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
NM_022168.4(IFIH1):c.769+3A>G rs769979161
NM_022168.4(IFIH1):c.770-10T>C rs1683038128
NM_022168.4(IFIH1):c.775G>C (p.Asp259His)
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr) rs1442046271
NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)
NM_022168.4(IFIH1):c.78C>G (p.Ile26Met)
NM_022168.4(IFIH1):c.797G>A (p.Ser266Asn)
NM_022168.4(IFIH1):c.797G>C (p.Ser266Thr)
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro) rs1261297304
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr) rs544744271
NM_022168.4(IFIH1):c.828T>A (p.His276Gln) rs2105214711
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
NM_022168.4(IFIH1):c.855_874+1dup
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
NM_022168.4(IFIH1):c.874+6G>T
NM_022168.4(IFIH1):c.875-11A>G
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly) rs2105209194
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser) rs2105238788
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe) rs764283944
NM_022168.4(IFIH1):c.905C>T (p.Pro302Leu)
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu) rs1682932788
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu) rs1683550615
NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr)
NM_022168.4(IFIH1):c.929del (p.Pro310fs) rs1212715492
NM_022168.4(IFIH1):c.937del (p.Met313fs)
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr) rs1355343871
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser) rs1355343871
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly) rs1682931873
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)
NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser) rs2105209017
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe) rs1474944804
NM_022168.4(IFIH1):c.974T>C (p.Ile325Thr)
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr) rs1682931491
NM_022168.4(IFIH1):c.97G>T (p.Asp33Tyr)
NM_022168.4(IFIH1):c.980T>C (p.Ile327Thr)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=) rs1576229569
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs) rs1961069899
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_024408.4(NOTCH2):c.1004G>A (p.Cys335Tyr)
NM_024408.4(NOTCH2):c.1006A>G (p.Ser336Gly)
NM_024408.4(NOTCH2):c.1016T>C (p.Ile339Thr)
NM_024408.4(NOTCH2):c.1027G>C (p.Ala343Pro)
NM_024408.4(NOTCH2):c.1029C>T (p.Ala343=)
NM_024408.4(NOTCH2):c.1033G>A (p.Ala345Thr)
NM_024408.4(NOTCH2):c.1076C>G (p.Ser359Cys)
NM_024408.4(NOTCH2):c.1105G>T (p.Ala369Ser)
NM_024408.4(NOTCH2):c.1108+5G>A
NM_024408.4(NOTCH2):c.1130A>T (p.Asp377Val)
NM_024408.4(NOTCH2):c.1138A>G (p.Ile380Val)
NM_024408.4(NOTCH2):c.1145A>G (p.Asn382Ser)
NM_024408.4(NOTCH2):c.1213C>G (p.Gln405Glu)
NM_024408.4(NOTCH2):c.1264+3G>A
NM_024408.4(NOTCH2):c.1265-6T>G
NM_024408.4(NOTCH2):c.1271G>A (p.Ser424Asn)
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) rs1557825800
NM_024408.4(NOTCH2):c.1307C>T (p.Thr436Met)
NM_024408.4(NOTCH2):c.1373A>G (p.Asn458Ser)
NM_024408.4(NOTCH2):c.1387G>C (p.Asp463His)
NM_024408.4(NOTCH2):c.1397A>G (p.Gln466Arg)
NM_024408.4(NOTCH2):c.1426G>A (p.Gly476Arg)
NM_024408.4(NOTCH2):c.1465G>A (p.Val489Met)
NM_024408.4(NOTCH2):c.1500C>A (p.Ser500Arg)
NM_024408.4(NOTCH2):c.1500C>G (p.Ser500Arg)
NM_024408.4(NOTCH2):c.1534A>G (p.Lys512Glu) rs2101141596
NM_024408.4(NOTCH2):c.1543C>T (p.Arg515Cys)
NM_024408.4(NOTCH2):c.1544G>A (p.Arg515His)
NM_024408.4(NOTCH2):c.1550A>G (p.Gln517Arg)
NM_024408.4(NOTCH2):c.1562C>G (p.Pro521Arg)
NM_024408.4(NOTCH2):c.1591A>G (p.Ile531Val)
NM_024408.4(NOTCH2):c.1598T>C (p.Ile533Thr)
NM_024408.4(NOTCH2):c.1605C>G (p.Asp535Glu)
NM_024408.4(NOTCH2):c.1615A>G (p.Thr539Ala)
NM_024408.4(NOTCH2):c.1616C>T (p.Thr539Ile)
NM_024408.4(NOTCH2):c.1640G>A (p.Cys547Tyr)
NM_024408.4(NOTCH2):c.1642A>G (p.Ile548Val)
NM_024408.4(NOTCH2):c.1650C>A (p.His550Gln)
NM_024408.4(NOTCH2):c.1661A>G (p.Tyr554Cys)
NM_024408.4(NOTCH2):c.1670A>G (p.Gln557Arg)
NM_024408.4(NOTCH2):c.1681+13_1681+14delinsCA
NM_024408.4(NOTCH2):c.1681+16_1681+29del
NM_024408.4(NOTCH2):c.1688C>A (p.Thr563Asn)
NM_024408.4(NOTCH2):c.1698G>T (p.Leu566Phe)
NM_024408.4(NOTCH2):c.1709A>T (p.Asn570Ile)
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) rs1651030166
NM_024408.4(NOTCH2):c.1777T>C (p.Cys593Arg)
NM_024408.4(NOTCH2):c.1782C>G (p.Ile594Met)
NM_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)
NM_024408.4(NOTCH2):c.1798A>G (p.Met600Val)
NM_024408.4(NOTCH2):c.1817A>T (p.Asp606Val)
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
NM_024408.4(NOTCH2):c.1823T>G (p.Ile608Ser)
NM_024408.4(NOTCH2):c.1834T>C (p.Tyr612His)
NM_024408.4(NOTCH2):c.1880A>G (p.Asn627Ser)
NM_024408.4(NOTCH2):c.1915+2dup rs1570696957
NM_024408.4(NOTCH2):c.1918G>A (p.Val640Ile)
NM_024408.4(NOTCH2):c.1939G>A (p.Asp647Asn)
NM_024408.4(NOTCH2):c.1946G>T (p.Cys649Phe)
NM_024408.4(NOTCH2):c.1955A>T (p.Asn652Ile) rs1411949035
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) rs1553198769
NM_024408.4(NOTCH2):c.1967A>G (p.His656Arg)
NM_024408.4(NOTCH2):c.1993C>T (p.Arg665Cys)
NM_024408.4(NOTCH2):c.1994G>A (p.Arg665His)
NM_024408.4(NOTCH2):c.2026+6G>A rs587731563
NM_024408.4(NOTCH2):c.2026+6G>C rs587731563
NM_024408.4(NOTCH2):c.2026G>C (p.Gly676Arg)
NM_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)
NM_024408.4(NOTCH2):c.2066A>G (p.Asn689Ser)
NM_024408.4(NOTCH2):c.2080G>C (p.Gly694Arg)
NM_024408.4(NOTCH2):c.2099G>T (p.Gly700Val)
NM_024408.4(NOTCH2):c.2108G>T (p.Gly703Val)
NM_024408.4(NOTCH2):c.2113C>T (p.Arg705Cys)
NM_024408.4(NOTCH2):c.2114G>A (p.Arg705His)
NM_024408.4(NOTCH2):c.2119A>T (p.Ile707Leu)
NM_024408.4(NOTCH2):c.2126C>T (p.Pro709Leu)
NM_024408.4(NOTCH2):c.2128G>A (p.Glu710Lys)
NM_024408.4(NOTCH2):c.2132G>A (p.Gly711Glu)
NM_024408.4(NOTCH2):c.2155T>A (p.Ser719Thr)
NM_024408.4(NOTCH2):c.2166C>A (p.Asn722Lys) rs1046818561
NM_024408.4(NOTCH2):c.2167G>A (p.Glu723Lys)
NM_024408.4(NOTCH2):c.2188A>G (p.Ile730Val)
NM_024408.4(NOTCH2):c.2213T>C (p.Leu738Pro)
NM_024408.4(NOTCH2):c.2219+5G>A
NM_024408.4(NOTCH2):c.2222A>C (p.Tyr741Ser)
NM_024408.4(NOTCH2):c.2222A>G (p.Tyr741Cys)
NM_024408.4(NOTCH2):c.2225A>G (p.Lys742Arg)
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2243G>A (p.Gly748Asp)
NM_024408.4(NOTCH2):c.2267T>A (p.Val756Glu)
NM_024408.4(NOTCH2):c.2269G>C (p.Asp757His)
NM_024408.4(NOTCH2):c.2273A>G (p.Lys758Arg)
NM_024408.4(NOTCH2):c.2274A>C (p.Lys758Asn)
NM_024408.4(NOTCH2):c.2279A>G (p.Glu760Gly)
NM_024408.4(NOTCH2):c.2292T>A (p.Asn764Lys)
NM_024408.4(NOTCH2):c.2294C>T (p.Pro765Leu)
NM_024408.4(NOTCH2):c.2321A>G (p.Asn774Ser)
NM_024408.4(NOTCH2):c.2338A>G (p.Arg780Gly)
NM_024408.4(NOTCH2):c.2339G>T (p.Arg780Met) rs2101122186
NM_024408.4(NOTCH2):c.2352G>T (p.Lys784Asn) rs782553837
NM_024408.4(NOTCH2):c.2353A>C (p.Lys785Gln)
NM_024408.4(NOTCH2):c.2365+17A>G
NM_024408.4(NOTCH2):c.2379G>C (p.Gln793His)
NM_024408.4(NOTCH2):c.2380G>A (p.Val794Met)
NM_024408.4(NOTCH2):c.2439C>G (p.Asp813Glu)
NM_024408.4(NOTCH2):c.2518A>G (p.Asn840Asp) rs1553197408
NM_024408.4(NOTCH2):c.2520C>A (p.Asn840Lys)
NM_024408.4(NOTCH2):c.2527G>A (p.Glu843Lys)
NM_024408.4(NOTCH2):c.2557A>G (p.Asn853Asp)
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) rs1650363387
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2588C>T (p.Pro863Leu) rs2101115530
NM_024408.4(NOTCH2):c.2594G>T (p.Trp865Leu)
NM_024408.4(NOTCH2):c.2600-3T>C
NM_024408.4(NOTCH2):c.2602C>G (p.Gln868Glu) rs2101114714
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
NM_024408.4(NOTCH2):c.2666A>G (p.His889Arg)
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2686A>C (p.Met896Leu)
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.2701C>A (p.Pro901Thr)
NM_024408.4(NOTCH2):c.2731G>A (p.Asp911Asn)
NM_024408.4(NOTCH2):c.2738A>C (p.Asp913Ala)
NM_024408.4(NOTCH2):c.2753-8T>A
NM_024408.4(NOTCH2):c.2762A>G (p.Gln921Arg)
NM_024408.4(NOTCH2):c.2779A>G (p.Met927Val)
NM_024408.4(NOTCH2):c.2792A>G (p.Asn931Ser) rs2101105785
NM_024408.4(NOTCH2):c.2794A>G (p.Thr932Ala) rs1650070015
NM_024408.4(NOTCH2):c.2835G>T (p.Lys945Asn)
NM_024408.4(NOTCH2):c.2840A>G (p.Gln947Arg)
NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala) rs992092842
NM_024408.4(NOTCH2):c.2981+3G>A
NM_024408.4(NOTCH2):c.3008T>C (p.Val1003Ala)
NM_024408.4(NOTCH2):c.3029C>T (p.Ser1010Phe)
NM_024408.4(NOTCH2):c.3034T>A (p.Leu1012Met)
NM_024408.4(NOTCH2):c.3053C>A (p.Thr1018Asn)
NM_024408.4(NOTCH2):c.3089G>C (p.Ser1030Thr)
NM_024408.4(NOTCH2):c.3094C>T (p.His1032Tyr)
NM_024408.4(NOTCH2):c.3103C>G (p.Leu1035Val)
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro) rs1038706033
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3166A>G (p.Thr1056Ala) rs1650029261
NM_024408.4(NOTCH2):c.3183+4A>G
NM_024408.4(NOTCH2):c.3208T>C (p.Ser1070Pro) rs1649920831
NM_024408.4(NOTCH2):c.3209C>T (p.Ser1070Phe) rs1649920676
NM_024408.4(NOTCH2):c.3217A>G (p.Lys1073Glu)
NM_024408.4(NOTCH2):c.3220A>C (p.Asn1074His)
NM_024408.4(NOTCH2):c.3224A>C (p.Lys1075Thr) rs2101100097
NM_024408.4(NOTCH2):c.3244A>G (p.Lys1082Glu)
NM_024408.4(NOTCH2):c.3276_3284del (p.Trp1093_Gly1095del)
NM_024408.4(NOTCH2):c.3307G>A (p.Val1103Ile)
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val) rs781824405
NM_024408.4(NOTCH2):c.3331A>G (p.Arg1111Gly)
NM_024408.4(NOTCH2):c.3340G>T (p.Val1114Leu)
NM_024408.4(NOTCH2):c.3347T>C (p.Val1116Ala)
NM_024408.4(NOTCH2):c.3353A>C (p.His1118Pro)
NM_024408.4(NOTCH2):c.3363G>A (p.Gln1121=)
NM_024408.4(NOTCH2):c.3383A>G (p.Asn1128Ser) rs1649897158
NM_024408.4(NOTCH2):c.3433T>C (p.Tyr1145His)
NM_024408.4(NOTCH2):c.3442G>A (p.Glu1148Lys)
NM_024408.4(NOTCH2):c.3451G>A (p.Asp1151Asn)
NM_024408.4(NOTCH2):c.3481G>A (p.Gly1161Arg)
NM_024408.4(NOTCH2):c.3493A>C (p.Ser1165Arg)
NM_024408.4(NOTCH2):c.3499T>G (p.Phe1167Val)
NM_024408.4(NOTCH2):c.3523-4G>T
NM_024408.4(NOTCH2):c.3527T>C (p.Val1176Ala) rs2101182866
NM_024408.4(NOTCH2):c.3553G>A (p.Glu1185Lys)
NM_024408.4(NOTCH2):c.3566A>T (p.Asp1189Val)
NM_024408.4(NOTCH2):c.3584C>T (p.Pro1195Leu)
NM_024408.4(NOTCH2):c.3607A>G (p.Ile1203Val)
NM_024408.4(NOTCH2):c.3650C>T (p.Thr1217Ile)
NM_024408.4(NOTCH2):c.3664T>A (p.Cys1222Ser)
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.3677T>C (p.Ile1226Thr)
NM_024408.4(NOTCH2):c.3691C>T (p.Arg1231Trp)
NM_024408.4(NOTCH2):c.3692G>A (p.Arg1231Gln)
NM_024408.4(NOTCH2):c.3694G>T (p.Gly1232Cys)
NM_024408.4(NOTCH2):c.3698C>T (p.Pro1233Leu) rs1318131579
NM_024408.4(NOTCH2):c.3778C>T (p.Arg1260Cys)
NM_024408.4(NOTCH2):c.3820A>G (p.Ser1274Gly)
NM_024408.4(NOTCH2):c.3865C>G (p.Leu1289Val)
NM_024408.4(NOTCH2):c.3907A>C (p.Thr1303Pro)
NM_024408.4(NOTCH2):c.3917A>C (p.Asp1306Ala)
NM_024408.4(NOTCH2):c.3920T>C (p.Val1307Ala)
NM_024408.4(NOTCH2):c.3971A>C (p.Asn1324Thr)
NM_024408.4(NOTCH2):c.3976C>T (p.Pro1326Ser)
NM_024408.4(NOTCH2):c.3994C>T (p.Arg1332Cys)
NM_024408.4(NOTCH2):c.3997T>C (p.Cys1333Arg)
NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg)
NM_024408.4(NOTCH2):c.4004C>T (p.Pro1335Leu)
NM_024408.4(NOTCH2):c.4005G>T (p.Pro1335=)
NM_024408.4(NOTCH2):c.4015G>A (p.Gly1339Arg)
NM_024408.4(NOTCH2):c.4023G>T (p.Arg1341Ser)
NM_024408.4(NOTCH2):c.4039G>A (p.Gly1347Arg) rs2101163283
NM_024408.4(NOTCH2):c.4045G>A (p.Val1349Met) rs776129840
NM_024408.4(NOTCH2):c.4058A>G (p.Lys1353Arg)
NM_024408.4(NOTCH2):c.4076A>C (p.His1359Pro)
NM_024408.4(NOTCH2):c.4076A>G (p.His1359Arg)
NM_024408.4(NOTCH2):c.4081G>A (p.Ala1361Thr)
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)
NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)
NM_024408.4(NOTCH2):c.4123G>A (p.Glu1375Lys)
NM_024408.4(NOTCH2):c.4129G>A (p.Gly1377Ser)
NM_024408.4(NOTCH2):c.4145C>G (p.Pro1382Arg) rs1418033447
NM_024408.4(NOTCH2):c.4156G>C (p.Gly1386Arg)
NM_024408.4(NOTCH2):c.4171C>A (p.Pro1391Thr)
NM_024408.4(NOTCH2):c.4177C>G (p.Arg1393Gly)
NM_024408.4(NOTCH2):c.4187C>G (p.Pro1396Arg)
NM_024408.4(NOTCH2):c.4243A>G (p.Thr1415Ala)
NM_024408.4(NOTCH2):c.4244C>G (p.Thr1415Arg)
NM_024408.4(NOTCH2):c.4247C>G (p.Ala1416Gly)
NM_024408.4(NOTCH2):c.4249C>A (p.Pro1417Thr)
NM_024408.4(NOTCH2):c.4252C>T (p.Pro1418Ser)
NM_024408.4(NOTCH2):c.4253C>T (p.Pro1418Leu)
NM_024408.4(NOTCH2):c.4276C>A (p.Leu1426Met) rs1268581110
NM_024408.4(NOTCH2):c.4283A>G (p.Gln1428Arg)
NM_024408.4(NOTCH2):c.4310G>A (p.Gly1437Asp)
NM_024408.4(NOTCH2):c.4316G>A (p.Cys1439Tyr) rs2101162209
NM_024408.4(NOTCH2):c.4337A>G (p.His1446Arg)
NM_024408.4(NOTCH2):c.4354G>A (p.Gly1452Arg)
NM_024408.4(NOTCH2):c.4356_4358del (p.Gly1453del)
NM_024408.4(NOTCH2):c.4369C>G (p.Leu1457Val)
NM_024408.4(NOTCH2):c.4383C>A (p.Asn1461Lys)
NM_024408.4(NOTCH2):c.4387_4388delinsCT (p.Trp1463Leu)
NM_024408.4(NOTCH2):c.4392C>T (p.Ala1464=)
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4412C>T (p.Pro1471Leu)
NM_024408.4(NOTCH2):c.4420G>T (p.Asp1474Tyr)
NM_024408.4(NOTCH2):c.4424A>T (p.Tyr1475Phe)
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
NM_024408.4(NOTCH2):c.4478A>G (p.Asn1493Ser)
NM_024408.4(NOTCH2):c.4511+6G>A
NM_024408.4(NOTCH2):c.4512-3T>G
NM_024408.4(NOTCH2):c.4519A>G (p.Lys1507Glu)
NM_024408.4(NOTCH2):c.4531G>C (p.Asp1511His)
NM_024408.4(NOTCH2):c.4578G>T (p.Glu1526Asp)
NM_024408.4(NOTCH2):c.4610A>C (p.Asp1537Ala)
NM_024408.4(NOTCH2):c.4615C>A (p.Pro1539Thr)
NM_024408.4(NOTCH2):c.4623C>A (p.Asn1541Lys)
NM_024408.4(NOTCH2):c.4624C>G (p.Leu1542Val)
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)
NM_024408.4(NOTCH2):c.4688G>T (p.Arg1563Leu)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4712C>A (p.Thr1571Asn)
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
NM_024408.4(NOTCH2):c.4742G>A (p.Arg1581Gln)
NM_024408.4(NOTCH2):c.4744G>A (p.Asp1582Asn)
NM_024408.4(NOTCH2):c.4748C>T (p.Ser1583Phe)
NM_024408.4(NOTCH2):c.4758A>C (p.Glu1586Asp)
NM_024408.4(NOTCH2):c.4759C>T (p.Leu1587Phe)
NM_024408.4(NOTCH2):c.4771C>T (p.Pro1591Ser)
NM_024408.4(NOTCH2):c.4798A>G (p.Met1600Val)
NM_024408.4(NOTCH2):c.4814T>C (p.Met1605Thr)
NM_024408.4(NOTCH2):c.4819C>A (p.Arg1607Ser)
NM_024408.4(NOTCH2):c.4820G>C (p.Arg1607Pro)
NM_024408.4(NOTCH2):c.4825T>A (p.Ser1609Thr)
NM_024408.4(NOTCH2):c.4839A>C (p.Glu1613Asp)
NM_024408.4(NOTCH2):c.4840C>A (p.Gln1614Lys) rs1557805633
NM_024408.4(NOTCH2):c.4846C>G (p.Gln1616Glu)
NM_024408.4(NOTCH2):c.4851G>T (p.Glu1617Asp)
NM_024408.4(NOTCH2):c.4864A>G (p.Lys1622Glu)
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr)
NM_024408.4(NOTCH2):c.4888C>T (p.Arg1630Cys) rs1649331292
NM_024408.4(NOTCH2):c.4889G>A (p.Arg1630His)
NM_024408.4(NOTCH2):c.4893G>T (p.Gln1631His)
NM_024408.4(NOTCH2):c.4895G>A (p.Cys1632Tyr)
NM_024408.4(NOTCH2):c.4923G>T (p.Lys1641Asn)
NM_024408.4(NOTCH2):c.4931A>T (p.Asp1644Val)
NM_024408.4(NOTCH2):c.4939G>T (p.Ala1647Ser) rs2101156178
NM_024408.4(NOTCH2):c.4963A>G (p.Ile1655Val)
NM_024408.4(NOTCH2):c.4970G>A (p.Gly1657Glu)
NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile)
NM_024408.4(NOTCH2):c.5008T>A (p.Ser1670Thr)
NM_024408.4(NOTCH2):c.5008T>C (p.Ser1670Pro)
NM_024408.4(NOTCH2):c.5017C>G (p.Pro1673Ala)
NM_024408.4(NOTCH2):c.5023C>T (p.Arg1675Cys)
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5032C>T (p.Leu1678Phe)
NM_024408.4(NOTCH2):c.5062A>G (p.Ile1688Val)
NM_024408.4(NOTCH2):c.5152C>G (p.Arg1718Gly)
NM_024408.4(NOTCH2):c.5152C>T (p.Arg1718Cys)
NM_024408.4(NOTCH2):c.5155C>G (p.Arg1719Gly)
NM_024408.4(NOTCH2):c.5168A>G (p.Asn1723Ser)
NM_024408.4(NOTCH2):c.5170C>A (p.His1724Asn)
NM_024408.4(NOTCH2):c.5174A>G (p.Lys1725Arg)
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5180G>T (p.Arg1727Leu)
NM_024408.4(NOTCH2):c.5218C>T (p.Leu1740Phe)
NM_024408.4(NOTCH2):c.5252G>A (p.Gly1751Asp)
NM_024408.4(NOTCH2):c.5278G>A (p.Asp1760Asn)
NM_024408.4(NOTCH2):c.5303A>G (p.Lys1768Arg)
NM_024408.4(NOTCH2):c.5306T>C (p.Val1769Ala)
NM_024408.4(NOTCH2):c.5335G>A (p.Glu1779Lys)
NM_024408.4(NOTCH2):c.5357G>A (p.Arg1786Gln)
NM_024408.4(NOTCH2):c.5359C>T (p.Arg1787Trp)
NM_024408.4(NOTCH2):c.5368A>T (p.Thr1790Ser)
NM_024408.4(NOTCH2):c.5384A>C (p.Glu1795Ala) rs2101151536
NM_024408.4(NOTCH2):c.5395A>G (p.Ile1799Val)
NM_024408.4(NOTCH2):c.5403G>T (p.Arg1801Ser)
NM_024408.4(NOTCH2):c.5425C>G (p.Pro1809Ala)
NM_024408.4(NOTCH2):c.5429C>T (p.Pro1810Leu)
NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)
NM_024408.4(NOTCH2):c.5496G>T (p.Leu1832Phe)
NM_024408.4(NOTCH2):c.5509C>T (p.Leu1837Phe)
NM_024408.4(NOTCH2):c.5530T>G (p.Leu1844Val)
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.5557G>C (p.Asp1853His)
NM_024408.4(NOTCH2):c.5569A>C (p.Asn1857His)
NM_024408.4(NOTCH2):c.5579C>T (p.Thr1860Ile)
NM_024408.4(NOTCH2):c.5595G>C (p.Gln1865His)
NM_024408.4(NOTCH2):c.5623C>T (p.Arg1875Trp)
NM_024408.4(NOTCH2):c.5660A>C (p.Tyr1887Ser)
NM_024408.4(NOTCH2):c.5660A>G (p.Tyr1887Cys)
NM_024408.4(NOTCH2):c.5683C>A (p.Arg1895Ser)
NM_024408.4(NOTCH2):c.5683C>T (p.Arg1895Cys)
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
NM_024408.4(NOTCH2):c.5798G>C (p.Arg1933Pro)
NM_024408.4(NOTCH2):c.5799A>G (p.Arg1933=) rs1649165617
NM_024408.4(NOTCH2):c.5824A>G (p.Asn1942Asp)
NM_024408.4(NOTCH2):c.5837C>T (p.Thr1946Ile)
NM_024408.4(NOTCH2):c.5839C>T (p.Pro1947Ser)
NM_024408.4(NOTCH2):c.5858G>T (p.Arg1953Leu)
NM_024408.4(NOTCH2):c.5864C>T (p.Ala1955Val)
NM_024408.4(NOTCH2):c.5877G>T (p.Met1959Ile)
NM_024408.4(NOTCH2):c.5878G>A (p.Val1960Met)
NM_024408.4(NOTCH2):c.5903C>T (p.Ala1968Val)
NM_024408.4(NOTCH2):c.5911A>T (p.Asn1971Tyr)
NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg) rs1553193747
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
NM_024408.4(NOTCH2):c.5968G>A (p.Val1990Met)
NM_024408.4(NOTCH2):c.5987T>G (p.Leu1996Trp)
NM_024408.4(NOTCH2):c.6024C>G (p.Asn2008Lys)
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser) rs756949183
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6129T>A (p.Asp2043Glu)
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly) rs140353589
NM_024408.4(NOTCH2):c.6143A>T (p.Asp2048Val)
NM_024408.4(NOTCH2):c.6154G>T (p.Asp2052Tyr)
NM_024408.4(NOTCH2):c.6158G>A (p.Arg2053His)
NM_024408.4(NOTCH2):c.6166C>T (p.His2056Tyr)
NM_024408.4(NOTCH2):c.6172A>G (p.Ile2058Val)
NM_024408.4(NOTCH2):c.6173T>C (p.Ile2058Thr)
NM_024408.4(NOTCH2):c.6179G>A (p.Arg2060His)
NM_024408.4(NOTCH2):c.6200T>C (p.Val2067Ala)
NM_024408.4(NOTCH2):c.6208A>T (p.Ser2070Cys)
NM_024408.4(NOTCH2):c.6236C>T (p.Ala2079Val)
NM_024408.4(NOTCH2):c.6238C>G (p.Leu2080Val)
NM_024408.4(NOTCH2):c.6269C>G (p.Ser2090Cys)
NM_024408.4(NOTCH2):c.6284A>G (p.Lys2095Arg)
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)
NM_024408.4(NOTCH2):c.6317C>T (p.Pro2106Leu)
NM_024408.4(NOTCH2):c.6320G>A (p.Ser2107Asn)
NM_024408.4(NOTCH2):c.6356T>C (p.Leu2119Pro)
NM_024408.4(NOTCH2):c.6384TAG[1] (p.Ser2129del)
NM_024408.4(NOTCH2):c.6394AAG[1] (p.Lys2133del)
NM_024408.4(NOTCH2):c.6404T>C (p.Leu2135Pro) rs2101144269
NM_024408.4(NOTCH2):c.6455A>G (p.Asp2152Gly)
NM_024408.4(NOTCH2):c.6472C>T (p.His2158Tyr)
NM_024408.4(NOTCH2):c.6474C>A (p.His2158Gln) rs1649064512
NM_024408.4(NOTCH2):c.6474C>G (p.His2158Gln)
NM_024408.4(NOTCH2):c.6476C>T (p.Thr2159Met)
NM_024408.4(NOTCH2):c.6485C>T (p.Ser2162Phe)
NM_024408.4(NOTCH2):c.6505A>G (p.Met2169Val)
NM_024408.4(NOTCH2):c.6512C>T (p.Thr2171Ile) rs1204320422
NM_024408.4(NOTCH2):c.6521G>C (p.Gly2174Ala)
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) rs770234870
NM_024408.4(NOTCH2):c.6533C>G (p.Ala2178Gly)
NM_024408.4(NOTCH2):c.6549G>A (p.Met2183Ile)
NM_024408.4(NOTCH2):c.6554C>T (p.Ala2185Val)
NM_024408.4(NOTCH2):c.6572C>T (p.Ala2191Val)
NM_024408.4(NOTCH2):c.6575C>T (p.Pro2192Leu)
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6640G>A (p.Ala2214Thr)
NM_024408.4(NOTCH2):c.6640G>T (p.Ala2214Ser)
NM_024408.4(NOTCH2):c.6661G>C (p.Val2221Leu) rs898248472
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) rs1557802029
NM_024408.4(NOTCH2):c.6690T>G (p.Ile2230Met)
NM_024408.4(NOTCH2):c.6710G>C (p.Ser2237Thr)
NM_024408.4(NOTCH2):c.6710G>T (p.Ser2237Ile)
NM_024408.4(NOTCH2):c.6751G>A (p.Ala2251Thr)
NM_024408.4(NOTCH2):c.6785C>G (p.Thr2262Ser)
NM_024408.4(NOTCH2):c.6802T>A (p.Phe2268Ile) rs149580724
NM_024408.4(NOTCH2):c.6805G>C (p.Gly2269Arg)
NM_024408.4(NOTCH2):c.6814C>G (p.Leu2272Val)
NM_024408.4(NOTCH2):c.6817G>C (p.Ala2273Pro)
NM_024408.4(NOTCH2):c.6871G>A (p.Gly2291Arg) rs2101142798
NM_024408.4(NOTCH2):c.6910A>C (p.Ile2304Leu) rs1649046175
NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) rs1557801809
NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His)
NM_024408.4(NOTCH2):c.6998C>T (p.Ala2333Val)
NM_024408.4(NOTCH2):c.7030G>A (p.Glu2344Lys)
NM_024408.4(NOTCH2):c.7039C>T (p.Arg2347Cys)
NM_024408.4(NOTCH2):c.7055C>T (p.Ala2352Val)
NM_024408.4(NOTCH2):c.7057T>C (p.Phe2353Leu)
NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val)
NM_024408.4(NOTCH2):c.7070T>C (p.Met2357Thr)
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.7074G>T (p.Met2358Ile)
NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val)
NM_024408.4(NOTCH2):c.7108C>G (p.Leu2370Val)
NM_024408.4(NOTCH2):c.7112C>T (p.Pro2371Leu)
NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr)
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu)
NM_024408.4(NOTCH2):c.7129C>A (p.Pro2377Thr)
NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu)
NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe)
NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7217G>T (p.Gly2406Val)
NM_024408.4(NOTCH2):c.7265C>T (p.Pro2422Leu)
NM_024408.4(NOTCH2):c.7269C>A (p.Asp2423Glu)
NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr) rs1649029477
NM_024408.4(NOTCH2):c.7301C>A (p.Ser2434Tyr)
NM_024408.4(NOTCH2):c.7318A>G (p.Thr2440Ala)
NM_024408.4(NOTCH2):c.7336G>C (p.Gly2446Arg) rs1379769528
NM_024408.4(NOTCH2):c.7337G>A (p.Gly2446Glu)
NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His) rs1352825600
NM_024408.4(NOTCH2):c.7364C>T (p.Pro2455Leu)
NM_024408.4(NOTCH2):c.7376T>C (p.Met2459Thr)
NM_024408.4(NOTCH2):c.7390C>G (p.His2464Asp)
NM_024408.4(NOTCH2):c.7390C>T (p.His2464Tyr)
NM_024408.4(NOTCH2):c.7402C>A (p.Gln2468Lys)
NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile)
NM_024408.4(NOTCH2):c.757G>A (p.Glu253Lys)
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) rs1202374604
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024408.4(NOTCH2):c.854G>A (p.Arg285His)
NM_024408.4(NOTCH2):c.854G>T (p.Arg285Leu)
NM_024408.4(NOTCH2):c.859C>G (p.Pro287Ala)
NM_024408.4(NOTCH2):c.859C>T (p.Pro287Ser)
NM_024408.4(NOTCH2):c.874+6T>C
NM_024408.4(NOTCH2):c.908T>C (p.Leu303Pro)
NM_024408.4(NOTCH2):c.920A>G (p.Asn307Ser)
NM_024408.4(NOTCH2):c.953G>T (p.Arg318Leu)
NM_024408.4(NOTCH2):c.998A>T (p.Asp333Val) rs782747038
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro) rs1037084691
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_024570.4(RNASEH2B):c.*174C>T rs1952055649
NM_024570.4(RNASEH2B):c.*63G>T rs751735556
NM_024570.4(RNASEH2B):c.-107G>A rs886050289
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
NM_024570.4(RNASEH2B):c.137-13T>G
NM_024570.4(RNASEH2B):c.137-4A>C
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg) rs1951651077
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala) rs1328842720
NM_024570.4(RNASEH2B):c.244+6T>C
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn) rs1879259645
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His) rs1879259645
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)
NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
NM_024570.4(RNASEH2B):c.322-17A>G
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met) rs764980431
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu) rs764980431
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
NM_024570.4(RNASEH2B):c.436+6G>C
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn) rs76219783
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.510+3A>G rs1387848478
NM_024570.4(RNASEH2B):c.510+6G>T rs1951858134
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=) rs2137982984
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=) rs768340427
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser) rs1951888592
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu) rs1951889253
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr) rs2137990955
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro) rs2137991056
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) rs1951889997
NM_024570.4(RNASEH2B):c.616+2dup
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys) rs2138000084
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His) rs1951926945
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg) rs200648780
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln) rs1265842301
NM_024570.4(RNASEH2B):c.64+3A>G
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) rs977521667
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His) rs77391331
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro) rs768565639
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) rs748052389
NM_024570.4(RNASEH2B):c.741+6A>G
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly) rs1951613237
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs) rs746868812
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro) rs2138027194
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) rs776706264
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His) rs2138027653
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs) rs2138027647
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs) rs1952051723
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) rs1064793824
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) rs864622411
NM_024753.5(TTC21B):c.2431G>T (p.Val811Phe) rs2105318208
NM_025132.4(WDR19):c.1354T>C (p.Leu452=) rs2109329940
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu) rs2109440327
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu) rs1727822959
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1249G>A rs940735282
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*659G>A rs868705835
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) rs377238665
NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu) rs758877524
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val) rs79849424
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)
NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr) rs1281543071
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe) rs1979943098
NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr) rs1301553883
NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu) rs752635709
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly) rs1600668873
NM_030777.4(SLC2A10):c.1289-3T>G
NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr) rs761324818
NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His) rs781676521
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp) rs781676521
NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly) rs756331165
NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val) rs545801780
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) rs771091234
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)
NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)
NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser) rs1600671602
NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) rs1600666532
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) rs1334989775
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) rs760437795
NM_030777.4(SLC2A10):c.1548-2A>T rs2123074047
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs) rs2123074215
NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser) rs1379143650
NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)
NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)
NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser) rs2123074423
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys) rs1979815162
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr) rs1979816863
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly) rs1979817884
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) rs1979819377
NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg) rs2123043051
NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)
NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) rs1555887907
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) rs756110797
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) rs772308135
NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala) rs983582627
NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)
NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)
NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala) rs1271983394
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg) rs1326794091
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val) rs774586340
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) rs1555887782
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) rs1555887956
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) rs1060502313
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) rs1568985955
NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) rs369484751
NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn) rs765689972
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) rs1254965156
NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)
NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg) rs1445963609
NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)
NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)
NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser) rs2123049348
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys) rs2122282675
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser) rs2122324503
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
NM_031229.4(RBCK1):c.1209+6G>T
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met) rs763071132
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile) rs1600315243
NM_031229.4(RBCK1):c.1309-9C>T
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala) rs756720324
NM_031229.4(RBCK1):c.1452+6T>C rs2122339130
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala) rs2015609266
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg) rs2016958362
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
NM_031229.4(RBCK1):c.167+3G>A rs2015610951
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val) rs1568554230
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile) rs778362577
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu) rs778362577
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro) rs772407882
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala) rs778228682
NM_031229.4(RBCK1):c.261+6_261+9del rs754865819
NM_031229.4(RBCK1):c.262-4C>G
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly) rs764728866
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln) rs752153553
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu) rs2122228193
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn) rs1471676178
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) rs1555785275
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met) rs2016220877
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala) rs2016222055
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys) rs2122242440
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala) rs766968693
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu) rs764357407
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup) rs2016250689
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn) rs1056596650
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln) rs756811010
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup) rs2016252024
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly) rs2122246121
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln) rs770302308
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser) rs993862197
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys) rs2016261661
NM_031229.4(RBCK1):c.757-10G>A rs1472775469
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp) rs867822612
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu) rs2016380869
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del) rs770767944
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
NM_031229.4(RBCK1):c.765G>C (p.Gln255His) rs1167649288
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg) rs755744736
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
NM_031229.4(RBCK1):c.795C>G (p.His265Gln) rs1001816526
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
NM_031229.4(RBCK1):c.836C>A (p.Pro279His) rs778259648
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr) rs1600298063
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu) rs765956229
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del) rs2122269453
NM_031229.4(RBCK1):c.893G>A (p.Arg298His) rs2016395491
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys) rs2122282171
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp) rs781592121
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser) rs2122282299
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.4(RNASEH2C):c.*1217G>C rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A rs886048483
NM_032193.4(RNASEH2C):c.*451C>T rs886048496
NM_032193.4(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.4(RNASEH2C):c.*532C>G rs886048495
NM_032193.4(RNASEH2C):c.*560C>T rs886048494
NM_032193.4(RNASEH2C):c.*706T>A rs886048493
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.*862A>C rs886048491
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp) rs759651650
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser) rs1857363681
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys) rs1194474428
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu) rs2135654103
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
NM_032193.4(RNASEH2C):c.172+5G>A rs781232402
NM_032193.4(RNASEH2C):c.173-4C>G rs886048501
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys) rs2135653318
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro) rs2135654514
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) rs1857352526
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp) rs1857351791
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr) rs772347588
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn) rs771160923
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala) rs148186114
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn) rs1379430577
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) rs1857363170
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys) rs759057632
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu) rs113396656
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) rs1314714026
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr) rs1388954201
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp) rs759644653
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val) rs2135652251
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu) rs2135652204
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
NM_032193.4(RNASEH2C):c.468+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.469-14_469-9del
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) rs779797858
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) rs2068698528
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) rs1373180685
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) rs1576748685
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
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.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.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.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
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.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
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.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.295T>C (p.Cys99Arg)
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.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
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.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
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.Ile15dup) 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.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup) 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.478A>C (p.Lys160Gln)
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.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.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
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.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
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.592G>A (p.Glu198Lys) rs1416519719
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.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.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.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
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.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.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
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.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.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
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.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.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.803G>C (p.Arg268Thr) rs2040380664
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.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
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.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.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
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.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
NM_052845.4(MMAB):c.-11C>G rs1228106972
NM_052989.3(IFT122):c.2596A>G (p.Met866Val) rs2081968039
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del) rs746556063
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) rs756451726
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) rs1406608470
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_054027.6(ANKH):c.*1354A>G rs886060080
NM_054027.6(ANKH):c.*1370C>G rs191464917
NM_054027.6(ANKH):c.*1372C>A rs1054095058
NM_054027.6(ANKH):c.*1423G>A rs572785716
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1753C>T rs1329037667
NM_054027.6(ANKH):c.*256G>A rs1265113554
NM_054027.6(ANKH):c.*2674C>A rs535920930
NM_054027.6(ANKH):c.*2674C>G rs535920930
NM_054027.6(ANKH):c.*3133C>A rs1007599533
NM_054027.6(ANKH):c.*3224T>C rs999138468
NM_054027.6(ANKH):c.*3359T>G rs1736999591
NM_054027.6(ANKH):c.*3509G>C rs1006427637
NM_054027.6(ANKH):c.*3664C>T rs886060073
NM_054027.6(ANKH):c.*4610C>A rs1050130499
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4777C>A rs991205856
NM_054027.6(ANKH):c.*4811A>G rs1736946428
NM_054027.6(ANKH):c.*5593G>C rs886060070
NM_054027.6(ANKH):c.*5895C>G rs141264056
NM_054027.6(ANKH):c.*5898G>A rs886060069
NM_054027.6(ANKH):c.*5980C>A rs943017719
NM_054027.6(ANKH):c.*6368G>A rs1238103899
NM_054027.6(ANKH):c.*643T>C rs886060087
NM_054027.6(ANKH):c.*921A>G rs886060085
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689
NM_058172.5(ANTXR2):c.-714A>T rs886059665
NM_058172.6(ANTXR2):c.*1085T>C rs1726908171
NM_058172.6(ANTXR2):c.*1113C>T rs554716997
NM_058172.6(ANTXR2):c.*1295T>C rs956054737
NM_058172.6(ANTXR2):c.*1795G>A rs1726872226
NM_058172.6(ANTXR2):c.*2187A>C rs1044519123
NM_058172.6(ANTXR2):c.*2256T>C rs1726855465
NM_058172.6(ANTXR2):c.*2666A>C rs1726839418
NM_058172.6(ANTXR2):c.*2959C>G rs1726830497
NM_058172.6(ANTXR2):c.*3212T>C rs1726821073
NM_058172.6(ANTXR2):c.*3371C>A rs768265599
NM_058172.6(ANTXR2):c.*3468A>G rs561942463
NM_058172.6(ANTXR2):c.*3606A>G rs1726804365
NM_058172.6(ANTXR2):c.*3888T>G rs183636388
NM_058172.6(ANTXR2):c.*3953G>A rs369116782
NM_058172.6(ANTXR2):c.*4223T>C rs181339722
NM_058172.6(ANTXR2):c.*4712C>T rs1726753644
NM_058172.6(ANTXR2):c.*5266A>C rs1726732435
NM_058172.6(ANTXR2):c.*5310T>G rs1726729431
NM_058172.6(ANTXR2):c.*5358A>G rs1726727827
NM_058172.6(ANTXR2):c.*5413A>G rs1726724637
NM_058172.6(ANTXR2):c.*728G>A rs778332341
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C rs1264418120
NM_058172.6(ANTXR2):c.-261G>T rs1578203683
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A rs1010470801
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-634C>T rs897876151
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly) rs534683576
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala) rs995416393
NM_058172.6(ANTXR2):c.390A>T (p.Gln130His)
NM_058172.6(ANTXR2):c.396G>T (p.Gln132His)
NM_058172.6(ANTXR2):c.637-10dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile) rs768405615
NM_058172.6(ANTXR2):c.796+3A>C rs1732794597
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser) rs2150579159
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met) rs745859259
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313
NM_130384.3(ATRIP):c.*1024C>T rs2040311705
NM_130384.3(ATRIP):c.*576G>T rs886058622
NM_130384.3(ATRIP):c.*732CTGC[4] rs371036312
NM_138348.6(OTULIN):c.349T>C (p.Phe117Leu)
NM_138348.6(OTULIN):c.469-10G>C rs189738566
NM_138348.6(OTULIN):c.553G>T (p.Val185Phe) rs867617260
NM_144687.3(NLRP12):c.*385T>G rs2091691730
NM_144687.3(NLRP12):c.*423G>T rs1033153396
NM_144687.4(NLRP12):c.1001C>G (p.Pro334Arg) rs780487558
NM_144687.4(NLRP12):c.1022C>A (p.Thr341Asn)
NM_144687.4(NLRP12):c.1024A>T (p.Thr342Ser)
NM_144687.4(NLRP12):c.1027C>G (p.Arg343Gly) rs112159191
NM_144687.4(NLRP12):c.1028G>C (p.Arg343Pro)
NM_144687.4(NLRP12):c.104C>A (p.Ala35Glu) rs373357561
NM_144687.4(NLRP12):c.1051C>T (p.His351Tyr) rs769279430
NM_144687.4(NLRP12):c.1055G>A (p.Arg352His)
NM_144687.4(NLRP12):c.1058T>A (p.Leu353Gln)
NM_144687.4(NLRP12):c.1060C>A (p.Leu354Met)
NM_144687.4(NLRP12):c.1075C>T (p.His359Tyr) rs2122672202
NM_144687.4(NLRP12):c.1081G>C (p.Glu361Gln)
NM_144687.4(NLRP12):c.1108A>G (p.Arg370Gly) rs2092052099
NM_144687.4(NLRP12):c.1118A>G (p.Tyr373Cys) rs2122671544
NM_144687.4(NLRP12):c.1132T>C (p.Phe378Leu)
NM_144687.4(NLRP12):c.1151C>G (p.Ala384Gly)
NM_144687.4(NLRP12):c.1151C>T (p.Ala384Val) rs1006682366
NM_144687.4(NLRP12):c.115G>A (p.Gly39Arg) rs2122812698
NM_144687.4(NLRP12):c.1160T>A (p.Val387Asp) rs1407939597
NM_144687.4(NLRP12):c.1162T>C (p.Phe388Leu) rs2092050733
NM_144687.4(NLRP12):c.1171G>A (p.Val391Met)
NM_144687.4(NLRP12):c.1171G>C (p.Val391Leu)
NM_144687.4(NLRP12):c.1183G>A (p.Glu395Lys) rs202133847
NM_144687.4(NLRP12):c.1187C>A (p.Pro396His) rs896692770
NM_144687.4(NLRP12):c.1190T>C (p.Leu397Pro)
NM_144687.4(NLRP12):c.1196C>G (p.Thr399Ser)
NM_144687.4(NLRP12):c.1207G>A (p.Val403Ile) rs765948822
NM_144687.4(NLRP12):c.1207G>C (p.Val403Leu) rs765948822
NM_144687.4(NLRP12):c.1208T>G (p.Val403Gly)
NM_144687.4(NLRP12):c.1210C>T (p.Pro404Ser)
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter) rs774895361
NM_144687.4(NLRP12):c.1235C>T (p.Thr412Ile)
NM_144687.4(NLRP12):c.1246C>T (p.Gln416Ter) rs200296032
NM_144687.4(NLRP12):c.1255G>C (p.Glu419Gln)
NM_144687.4(NLRP12):c.1258G>A (p.Gly420Ser)
NM_144687.4(NLRP12):c.1261G>T (p.Gly421Trp)
NM_144687.4(NLRP12):c.1264G>A (p.Gly422Arg) rs2092047430
NM_144687.4(NLRP12):c.1266dup (p.Leu423fs)
NM_144687.4(NLRP12):c.1277A>G (p.Gln426Arg) rs2092047033
NM_144687.4(NLRP12):c.1280C>A (p.Thr427Lys) rs1383087110
NM_144687.4(NLRP12):c.1302G>A (p.Val434=) rs2092046266
NM_144687.4(NLRP12):c.1308G>T (p.Met436Ile)
NM_144687.4(NLRP12):c.1321A>G (p.Ser441Gly)
NM_144687.4(NLRP12):c.1340C>T (p.Pro447Leu) rs773565080
NM_144687.4(NLRP12):c.1342G>A (p.Gly448Arg) rs914321661
NM_144687.4(NLRP12):c.1345G>C (p.Ala449Pro)
NM_144687.4(NLRP12):c.1345dup (p.Ala449fs)
NM_144687.4(NLRP12):c.1346C>A (p.Ala449Asp)
NM_144687.4(NLRP12):c.1346C>G (p.Ala449Gly) rs1016647701
NM_144687.4(NLRP12):c.1350_1356dup (p.Gln453fs)
NM_144687.4(NLRP12):c.1355T>C (p.Leu452Pro) rs1173800721
NM_144687.4(NLRP12):c.1358dup (p.Pro454fs)
NM_144687.4(NLRP12):c.1367C>G (p.Pro456Arg) rs2122666514
NM_144687.4(NLRP12):c.1367C>T (p.Pro456Leu)
NM_144687.4(NLRP12):c.136G>C (p.Gly46Arg) rs886054611
NM_144687.4(NLRP12):c.1370A>G (p.Asn457Ser) rs2092043814
NM_144687.4(NLRP12):c.1372C>A (p.Gln458Lys) rs757979953
NM_144687.4(NLRP12):c.1376G>A (p.Arg459Lys) rs2122666367
NM_144687.4(NLRP12):c.1383del (p.Leu461fs)
NM_144687.4(NLRP12):c.1391_1408del (p.Leu464_Leu469del) rs2122665998
NM_144687.4(NLRP12):c.1394C>T (p.Ala465Val) rs960826983
NM_144687.4(NLRP12):c.139_203dup (p.Leu72fs)
NM_144687.4(NLRP12):c.1403G>C (p.Gly468Ala)
NM_144687.4(NLRP12):c.1408T>C (p.Trp470Arg)
NM_144687.4(NLRP12):c.1416G>T (p.Gln472His) rs756550237
NM_144687.4(NLRP12):c.1420A>T (p.Ile474Phe) rs886054609
NM_144687.4(NLRP12):c.1421T>C (p.Ile474Thr)
NM_144687.4(NLRP12):c.1437G>C (p.Gln479His)
NM_144687.4(NLRP12):c.1442T>G (p.Leu481Arg)
NM_144687.4(NLRP12):c.1444C>T (p.Arg482Trp)
NM_144687.4(NLRP12):c.1450C>T (p.His484Tyr) rs2122665361
NM_144687.4(NLRP12):c.1451A>G (p.His484Arg)
NM_144687.4(NLRP12):c.1459G>C (p.Asp487His) rs745752604
NM_144687.4(NLRP12):c.1475C>G (p.Ser492Cys)
NM_144687.4(NLRP12):c.1480T>C (p.Phe494Leu)
NM_144687.4(NLRP12):c.1487A>G (p.Asn496Ser)
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del) rs1403147116
NM_144687.4(NLRP12):c.1518T>A (p.Cys506Ter) rs757697839
NM_144687.4(NLRP12):c.1522A>G (p.Arg508Gly) rs576700970
NM_144687.4(NLRP12):c.1523G>A (p.Arg508Lys) rs2092040588
NM_144687.4(NLRP12):c.1524_1525dup (p.Tyr509fs)
NM_144687.4(NLRP12):c.1538T>C (p.Ile513Thr) rs759658980
NM_144687.4(NLRP12):c.1538del (p.Ile513fs) rs903100692
NM_144687.4(NLRP12):c.154G>C (p.Gly52Arg)
NM_144687.4(NLRP12):c.155G>A (p.Gly52Asp) rs758138704
NM_144687.4(NLRP12):c.1584G>A (p.Leu528=) rs2092038877
NM_144687.4(NLRP12):c.1587C>G (p.Asp529Glu) rs781712648
NM_144687.4(NLRP12):c.1590G>C (p.Glu530Asp)
NM_144687.4(NLRP12):c.1591G>A (p.Gly531Arg) rs566324385
NM_144687.4(NLRP12):c.1600G>A (p.Gly534Arg)
NM_144687.4(NLRP12):c.1608_1612del (p.Asp538fs)
NM_144687.4(NLRP12):c.1620C>A (p.Asp540Glu)
NM_144687.4(NLRP12):c.1621G>A (p.Val541Met) rs142569357
NM_144687.4(NLRP12):c.1635G>C (p.Leu545Phe)
NM_144687.4(NLRP12):c.1636A>C (p.Thr546Pro) rs2092037334
NM_144687.4(NLRP12):c.1639G>A (p.Glu547Lys)
NM_144687.4(NLRP12):c.1639G>C (p.Glu547Gln) rs760475376
NM_144687.4(NLRP12):c.1649T>C (p.Phe550Ser)
NM_144687.4(NLRP12):c.1651T>G (p.Ser551Ala) rs2122662116
NM_144687.4(NLRP12):c.1666C>G (p.Leu556Val)
NM_144687.4(NLRP12):c.1672C>T (p.Leu558Phe) rs779482271
NM_144687.4(NLRP12):c.1681C>T (p.Arg561Cys) rs747435135
NM_144687.4(NLRP12):c.1682G>A (p.Arg561His)
NM_144687.4(NLRP12):c.1685T>G (p.Phe562Cys) rs2122661467
NM_144687.4(NLRP12):c.1694G>A (p.Gly565Glu) rs1235884586
NM_144687.4(NLRP12):c.1704C>G (p.Asn568Lys) rs758740079
NM_144687.4(NLRP12):c.1709A>C (p.Glu570Ala)
NM_144687.4(NLRP12):c.1732_1733del (p.Cys580fs) rs1568677542
NM_144687.4(NLRP12):c.1738T>C (p.Cys580Arg) rs1273259606
NM_144687.4(NLRP12):c.1739G>C (p.Cys580Ser) rs774065257
NM_144687.4(NLRP12):c.1746G>T (p.Lys582Asn)
NM_144687.4(NLRP12):c.1751CGC[1] (p.Pro585del) rs1568677341
NM_144687.4(NLRP12):c.1755_1756delinsCT (p.His586Tyr) rs2092033365
NM_144687.4(NLRP12):c.1756C>A (p.His586Asn) rs772704000
NM_144687.4(NLRP12):c.1757A>C (p.His586Pro)
NM_144687.4(NLRP12):c.176_183del (p.Leu59fs) rs1307106759
NM_144687.4(NLRP12):c.1780T>C (p.Trp594Arg)
NM_144687.4(NLRP12):c.1804G>A (p.Asp602Asn)
NM_144687.4(NLRP12):c.1807_1814del (p.Gly603fs) rs775762941
NM_144687.4(NLRP12):c.1819C>A (p.Gln607Lys)
NM_144687.4(NLRP12):c.1820A>G (p.Gln607Arg) rs370229918
NM_144687.4(NLRP12):c.1832T>C (p.Leu611Ser)
NM_144687.4(NLRP12):c.1834G>A (p.Glu612Lys) rs2122658928
NM_144687.4(NLRP12):c.1835A>C (p.Glu612Ala)
NM_144687.4(NLRP12):c.1842C>G (p.Phe614Leu)
NM_144687.4(NLRP12):c.1850_1863del (p.Cys616_Leu617insTer)
NM_144687.4(NLRP12):c.1851G>C (p.Leu617Phe) rs1179439001
NM_144687.4(NLRP12):c.1855G>C (p.Glu619Gln)
NM_144687.4(NLRP12):c.1856A>G (p.Glu619Gly)
NM_144687.4(NLRP12):c.1864GAG[2] (p.Glu624del) rs746405537
NM_144687.4(NLRP12):c.1867G>A (p.Glu623Lys) rs2092030387
NM_144687.4(NLRP12):c.1878C>G (p.Ile626Met) rs2092030072
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
NM_144687.4(NLRP12):c.1893C>A (p.Ser631Arg) rs2122657897
NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr) rs1600706886
NM_144687.4(NLRP12):c.1895A>G (p.His632Arg) rs916557452
NM_144687.4(NLRP12):c.1898T>G (p.Phe633Cys) rs763997556
NM_144687.4(NLRP12):c.1901A>T (p.Gln634Leu)
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=) rs1454297839
NM_144687.4(NLRP12):c.1909G>A (p.Val637Met) rs1254553227
NM_144687.4(NLRP12):c.1909G>T (p.Val637Leu) rs1254553227
NM_144687.4(NLRP12):c.1912G>A (p.Val638Ile)
NM_144687.4(NLRP12):c.1915A>G (p.Ser639Gly)
NM_144687.4(NLRP12):c.1929del (p.Lys644fs)
NM_144687.4(NLRP12):c.1933A>G (p.Met645Val) rs1310368043
NM_144687.4(NLRP12):c.193G>A (p.Gly65Arg)
NM_144687.4(NLRP12):c.193G>C (p.Gly65Arg) rs376902606
NM_144687.4(NLRP12):c.1944G>C (p.Met648Ile) rs2092028098
NM_144687.4(NLRP12):c.1948T>C (p.Ser650Pro) rs769279292
NM_144687.4(NLRP12):c.194G>C (p.Gly65Ala) rs2122811779
NM_144687.4(NLRP12):c.1951T>A (p.Ser651Thr)
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_144687.4(NLRP12):c.1960C>G (p.Leu654Val)
NM_144687.4(NLRP12):c.1966C>T (p.Arg656Cys) rs1183145840
NM_144687.4(NLRP12):c.1973G>A (p.Arg658Lys)
NM_144687.4(NLRP12):c.1983G>C (p.Gln661His) rs2092026599
NM_144687.4(NLRP12):c.1988T>C (p.Leu663Pro)
NM_144687.4(NLRP12):c.1990C>T (p.His664Tyr) rs1555795695
NM_144687.4(NLRP12):c.1990dup (p.His664fs)
NM_144687.4(NLRP12):c.1A>T (p.Met1Leu) rs1386409873
NM_144687.4(NLRP12):c.2005A>G (p.Thr669Ala) rs551922611
NM_144687.4(NLRP12):c.2013C>T (p.Ser671=) rs781329641
NM_144687.4(NLRP12):c.2020G>C (p.Gly674Arg)
NM_144687.4(NLRP12):c.2028C>A (p.Asp676Glu)
NM_144687.4(NLRP12):c.2032G>A (p.Ala678Thr) rs1204554159
NM_144687.4(NLRP12):c.2032G>T (p.Ala678Ser) rs1204554159
NM_144687.4(NLRP12):c.2033C>T (p.Ala678Val)
NM_144687.4(NLRP12):c.2037_2039dup (p.Arg679_Cys680insTrp) rs2092024786
NM_144687.4(NLRP12):c.2037dup (p.Cys680fs)
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
NM_144687.4(NLRP12):c.2051C>A (p.Ala684Glu) rs753678830
NM_144687.4(NLRP12):c.2057C>T (p.Thr686Met) rs756690369
NM_144687.4(NLRP12):c.2072+2_2072+3insTT rs104895565
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2072T>A (p.Leu691Gln)
NM_144687.4(NLRP12):c.2072T>C (p.Leu691Pro) rs760012636
NM_144687.4(NLRP12):c.2073-10_2073-7del rs2091984016
NM_144687.4(NLRP12):c.2073-5A>G rs1555795098
NM_144687.4(NLRP12):c.2078A>G (p.Glu693Gly) rs1283877231
NM_144687.4(NLRP12):c.2086G>A (p.Val696Ile)
NM_144687.4(NLRP12):c.2089C>A (p.Leu697Met)
NM_144687.4(NLRP12):c.2107G>A (p.Glu703Lys)
NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr) rs1380366925
NM_144687.4(NLRP12):c.2123C>A (p.Ala708Asp) rs2122636258
NM_144687.4(NLRP12):c.2126T>C (p.Leu709Pro)
NM_144687.4(NLRP12):c.2140A>G (p.Asn714Asp) rs2122635998
NM_144687.4(NLRP12):c.2146A>G (p.Ile716Val) rs2091981992
NM_144687.4(NLRP12):c.2159T>C (p.Leu720Pro)
NM_144687.4(NLRP12):c.2171C>T (p.Ala724Val) rs201136106
NM_144687.4(NLRP12):c.2182C>G (p.Arg728Gly) rs764354581
NM_144687.4(NLRP12):c.2183G>C (p.Arg728Pro)
NM_144687.4(NLRP12):c.2185G>T (p.Gly729Trp) rs139938997
NM_144687.4(NLRP12):c.2188dup (p.Val730fs) rs771632319
NM_144687.4(NLRP12):c.2191A>G (p.Lys731Glu)
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2225G>A (p.Cys742Tyr)
NM_144687.4(NLRP12):c.2244-10del rs2122612301
NM_144687.4(NLRP12):c.2244-1G>A rs1555794506
NM_144687.4(NLRP12):c.2244-22_2271del
NM_144687.4(NLRP12):c.2244G>A (p.Arg748=) rs2122612115
NM_144687.4(NLRP12):c.2258G>T (p.Arg753Leu) rs148745997
NM_144687.4(NLRP12):c.226A>C (p.Thr76Pro) rs2122811413
NM_144687.4(NLRP12):c.2284C>G (p.Leu762Val) rs752188739
NM_144687.4(NLRP12):c.2287T>G (p.Ser763Ala) rs764833458
NM_144687.4(NLRP12):c.2299A>G (p.Ile767Val)
NM_144687.4(NLRP12):c.229T>G (p.Phe77Val)
NM_144687.4(NLRP12):c.2300T>G (p.Ile767Arg)
NM_144687.4(NLRP12):c.231dup (p.Glu78Ter) rs2092306297
NM_144687.4(NLRP12):c.2330T>C (p.Leu777Pro) rs2122610100
NM_144687.4(NLRP12):c.2337C>T (p.Gly779=) rs2091941014
NM_144687.4(NLRP12):c.2341G>C (p.Gly781Arg)
NM_144687.4(NLRP12):c.2371T>C (p.Cys791Arg)
NM_144687.4(NLRP12):c.2373C>T (p.Cys791=) rs978653815
NM_144687.4(NLRP12):c.2374G>C (p.Glu792Gln) rs753391798
NM_144687.4(NLRP12):c.2376G>T (p.Glu792Asp) rs768192429
NM_144687.4(NLRP12):c.2386C>T (p.His796Tyr) rs2122608585
NM_144687.4(NLRP12):c.2394G>C (p.Gln798His)
NM_144687.4(NLRP12):c.2398A>G (p.Arg800Gly) rs922832985
NM_144687.4(NLRP12):c.2399G>A (p.Arg800Lys)
NM_144687.4(NLRP12):c.2406G>C (p.Gln802His) rs2122608123
NM_144687.4(NLRP12):c.2417T>G (p.Leu806Trp)
NM_144687.4(NLRP12):c.2426G>A (p.Cys809Tyr)
NM_144687.4(NLRP12):c.2438C>T (p.Ser813Phe) rs886054607
NM_144687.4(NLRP12):c.2440G>C (p.Gly814Arg) rs149903344
NM_144687.4(NLRP12):c.2443G>T (p.Ala815Ser) rs1435753276
NM_144687.4(NLRP12):c.2450A>T (p.Gln817Leu) rs755657075
NM_144687.4(NLRP12):c.2459C>T (p.Ala820Val) rs762058684
NM_144687.4(NLRP12):c.2464G>A (p.Val822Met) rs2122593596
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys) rs2091916523
NM_144687.4(NLRP12):c.2470G>A (p.Gly824Ser) rs372647059
NM_144687.4(NLRP12):c.2471G>A (p.Gly824Asp)
NM_144687.4(NLRP12):c.2480del (p.Pro827fs) rs749913514
NM_144687.4(NLRP12):c.2487G>C (p.Leu829=) rs143499267
NM_144687.4(NLRP12):c.2493G>C (p.Glu831Asp) rs886054606
NM_144687.4(NLRP12):c.24C>A (p.Asp8Glu) rs577507616
NM_144687.4(NLRP12):c.2500C>A (p.Leu834Met) rs1212091388
NM_144687.4(NLRP12):c.2512G>T (p.Ala838Ser) rs768588697
NM_144687.4(NLRP12):c.2520_2522delinsAGT (p.Asp841Val)
NM_144687.4(NLRP12):c.2526G>C (p.Leu842Phe) rs2122592653
NM_144687.4(NLRP12):c.2534G>A (p.Arg845Lys)
NM_144687.4(NLRP12):c.2543G>A (p.Cys848Tyr)
NM_144687.4(NLRP12):c.2549del (p.Gly850fs) rs1325684119
NM_144687.4(NLRP12):c.2586G>C (p.Trp862Cys) rs1568662444
NM_144687.4(NLRP12):c.2599C>T (p.Arg867Cys) rs149373778
NM_144687.4(NLRP12):c.2602C>T (p.Leu868Phe) rs1600683649
NM_144687.4(NLRP12):c.2605_2607dup (p.Thr869_Ala870insThr)
NM_144687.4(NLRP12):c.2606C>T (p.Thr869Ile) rs2091868280
NM_144687.4(NLRP12):c.2619T>G (p.Cys873Trp)
NM_144687.4(NLRP12):c.2620G>A (p.Asp874Asn)
NM_144687.4(NLRP12):c.2628_2629delinsTT (p.Ala877Ser)
NM_144687.4(NLRP12):c.2639_2640del (p.Leu880fs) rs1342078475
NM_144687.4(NLRP12):c.2642G>C (p.Ser881Thr)
NM_144687.4(NLRP12):c.2652G>C (p.Gln884His)
NM_144687.4(NLRP12):c.2654G>A (p.Ser885Asn) rs760285772
NM_144687.4(NLRP12):c.265G>A (p.Gly89Arg) rs753292620
NM_144687.4(NLRP12):c.265G>C (p.Gly89Arg)
NM_144687.4(NLRP12):c.2661_2664del (p.Arg887fs) rs2091866608
NM_144687.4(NLRP12):c.2663_2664del (p.Glu888fs) rs2091866608
NM_144687.4(NLRP12):c.2666T>A (p.Leu889Gln) rs534132036
NM_144687.4(NLRP12):c.2666T>C (p.Leu889Pro)
NM_144687.4(NLRP12):c.2670C>G (p.Asp890Glu) rs2122563335
NM_144687.4(NLRP12):c.2722C>T (p.Leu908Phe)
NM_144687.4(NLRP12):c.2735C>T (p.Thr912Met)
NM_144687.4(NLRP12):c.2739C>G (p.Cys913Trp) rs2122562229
NM_144687.4(NLRP12):c.2741A>G (p.Lys914Arg)
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.2756+3G>A
NM_144687.4(NLRP12):c.2756+5G>C
NM_144687.4(NLRP12):c.2764_2778del (p.Ile922_Gly926del)
NM_144687.4(NLRP12):c.2765T>G (p.Ile922Ser) rs767041308
NM_144687.4(NLRP12):c.2766C>T (p.Ile922=) rs1430424840
NM_144687.4(NLRP12):c.2772_2785dup (p.Ala929fs)
NM_144687.4(NLRP12):c.2782G>T (p.Ala928Ser)
NM_144687.4(NLRP12):c.2791G>A (p.Glu931Lys)
NM_144687.4(NLRP12):c.2797_2799dup (p.Leu933dup) rs2122532843
NM_144687.4(NLRP12):c.2816C>G (p.Ala939Gly) rs2122532604
NM_144687.4(NLRP12):c.2825A>G (p.Asn942Ser) rs1220727074
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp) rs104895570
NM_144687.4(NLRP12):c.2837T>C (p.Leu946Pro)
NM_144687.4(NLRP12):c.283G>C (p.Val95Leu) rs763354608
NM_144687.4(NLRP12):c.2844G>C (p.Leu948Phe)
NM_144687.4(NLRP12):c.2853C>A (p.Asn951Lys) rs376516191
NM_144687.4(NLRP12):c.2889G>C (p.Glu963Asp)
NM_144687.4(NLRP12):c.289+6G>A
NM_144687.4(NLRP12):c.2898A>T (p.Gln966His) rs2091805877
NM_144687.4(NLRP12):c.290-13A>G
NM_144687.4(NLRP12):c.2905G>A (p.Ala969Thr) rs754537076
NM_144687.4(NLRP12):c.2905G>C (p.Ala969Pro) rs754537076
NM_144687.4(NLRP12):c.2910_2911delinsTT (p.Arg971Ter)
NM_144687.4(NLRP12):c.2926_2927del (p.Trp976fs) rs764265930
NM_144687.4(NLRP12):c.2931G>A (p.Leu977=) rs2122506609
NM_144687.4(NLRP12):c.2938T>C (p.Cys980Arg)
NM_144687.4(NLRP12):c.2948C>A (p.Thr983Lys)
NM_144687.4(NLRP12):c.2954A>T (p.Lys985Met)
NM_144687.4(NLRP12):c.2960G>C (p.Cys987Ser)
NM_144687.4(NLRP12):c.296C>T (p.Pro99Leu) rs1271514228
NM_144687.4(NLRP12):c.2980C>G (p.Leu994Val)
NM_144687.4(NLRP12):c.2990A>T (p.Asn997Ile) rs2091750724
NM_144687.4(NLRP12):c.2990_2993del (p.Asn997fs) rs2091750503
NM_144687.4(NLRP12):c.2991C>G (p.Asn997Lys) rs1334288624
NM_144687.4(NLRP12):c.2T>C (p.Met1Thr) rs2092309461
NM_144687.4(NLRP12):c.3004G>C (p.Asp1002His)
NM_144687.4(NLRP12):c.301G>A (p.Gly101Ser) rs2092134890
NM_144687.4(NLRP12):c.3020A>G (p.Asn1007Ser)
NM_144687.4(NLRP12):c.3024C>A (p.Asn1008Lys)
NM_144687.4(NLRP12):c.3025G>T (p.Ala1009Ser) rs1256306834
NM_144687.4(NLRP12):c.3028del (p.Ala1009_Leu1010insTer) rs2091749130
NM_144687.4(NLRP12):c.3038C>A (p.Thr1013Lys) rs538392013
NM_144687.4(NLRP12):c.3039_3040del (p.Gly1014fs)
NM_144687.4(NLRP12):c.3047G>A (p.Arg1016Gln)
NM_144687.4(NLRP12):c.3061C>T (p.Arg1021Trp)
NM_144687.4(NLRP12):c.3062G>A (p.Arg1021Gln) rs769192403
NM_144687.4(NLRP12):c.3065T>G (p.Leu1022Arg) rs1568654178
NM_144687.4(NLRP12):c.3068del (p.Ser1023fs)
NM_144687.4(NLRP12):c.306C>T (p.Gly102=) rs745452377
NM_144687.4(NLRP12):c.3078_3098+1del rs1064796908
NM_144687.4(NLRP12):c.3079T>C (p.Cys1027Arg)
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3088C>T (p.Arg1030Ter) rs201619538
NM_144687.4(NLRP12):c.3092T>A (p.Val1031Asp) rs2122504184
NM_144687.4(NLRP12):c.3098+4A>G
NM_144687.4(NLRP12):c.3098+6G>T
NM_144687.4(NLRP12):c.3099G>T (p.Trp1033Cys) rs1348599488
NM_144687.4(NLRP12):c.3106G>A (p.Gly1036Arg) rs2122482565
NM_144687.4(NLRP12):c.3120_3122dup (p.Asn1040_Lys1041insAsn)
NM_144687.4(NLRP12):c.3136A>G (p.Arg1046Gly) rs934460879
NM_144687.4(NLRP12):c.3149T>A (p.Leu1050His)
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) rs777108086
NM_144687.4(NLRP12):c.3159A>G (p.Thr1053=) rs747279509
NM_144687.4(NLRP12):c.3160A>G (p.Lys1054Glu) rs1451264761
NM_144687.4(NLRP12):c.318T>G (p.Leu106=) rs2092134647
NM_144687.4(NLRP12):c.331A>C (p.Thr111Pro)
NM_144687.4(NLRP12):c.331A>G (p.Thr111Ala)
NM_144687.4(NLRP12):c.349T>C (p.Ser117Pro) rs1290493565
NM_144687.4(NLRP12):c.350C>G (p.Ser117Cys)
NM_144687.4(NLRP12):c.355G>T (p.Val119Phe)
NM_144687.4(NLRP12):c.362C>G (p.Pro121Arg)
NM_144687.4(NLRP12):c.371-14T>G
NM_144687.4(NLRP12):c.371-8T>C rs2122684543
NM_144687.4(NLRP12):c.377A>C (p.Gln126Pro) rs377242049
NM_144687.4(NLRP12):c.383C>T (p.Thr128Ile)
NM_144687.4(NLRP12):c.387C>A (p.Tyr129Ter) rs749761816
NM_144687.4(NLRP12):c.391G>A (p.Asp131Asn) rs2122684214
NM_144687.4(NLRP12):c.393C>G (p.Asp131Glu)
NM_144687.4(NLRP12):c.405G>T (p.Arg135Ser)
NM_144687.4(NLRP12):c.411C>A (p.Phe137Leu)
NM_144687.4(NLRP12):c.421del (p.Glu141fs)
NM_144687.4(NLRP12):c.430A>C (p.Asn144His)
NM_144687.4(NLRP12):c.430A>G (p.Asn144Asp)
NM_144687.4(NLRP12):c.431A>C (p.Asn144Thr) rs2122683509
NM_144687.4(NLRP12):c.434C>T (p.Ala145Val) rs780751328
NM_144687.4(NLRP12):c.437G>T (p.Arg146Leu)
NM_144687.4(NLRP12):c.442G>A (p.Gly148Arg) rs757517539
NM_144687.4(NLRP12):c.455dup (p.Asn152fs) rs759034762
NM_144687.4(NLRP12):c.466C>T (p.Arg156Trp) rs145803984
NM_144687.4(NLRP12):c.467G>T (p.Arg156Leu) rs753636285
NM_144687.4(NLRP12):c.473C>G (p.Thr158Ser) rs760404956
NM_144687.4(NLRP12):c.473C>T (p.Thr158Ile)
NM_144687.4(NLRP12):c.476G>A (p.Arg159Gln)
NM_144687.4(NLRP12):c.48C>G (p.Tyr16Ter)
NM_144687.4(NLRP12):c.496C>A (p.His166Asn)
NM_144687.4(NLRP12):c.505C>T (p.Pro169Ser)
NM_144687.4(NLRP12):c.524A>G (p.Gln175Arg) rs2092067719
NM_144687.4(NLRP12):c.526C>T (p.Leu176Phe) rs777079738
NM_144687.4(NLRP12):c.539G>A (p.Gly180Asp) rs553635077
NM_144687.4(NLRP12):c.551C>G (p.Ala184Gly)
NM_144687.4(NLRP12):c.551C>T (p.Ala184Val) rs2092066775
NM_144687.4(NLRP12):c.575G>T (p.Ser192Ile) rs774008748
NM_144687.4(NLRP12):c.575del (p.Ser192fs)
NM_144687.4(NLRP12):c.581T>C (p.Ile194Thr) rs1177743594
NM_144687.4(NLRP12):c.593C>T (p.Thr198Ile)
NM_144687.4(NLRP12):c.606A>G (p.Pro202=) rs747390376
NM_144687.4(NLRP12):c.608_609delinsTT (p.Asp203Val) rs2122680898
NM_144687.4(NLRP12):c.616C>A (p.Arg206Ser) rs111754022
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys) rs111754022
NM_144687.4(NLRP12):c.617G>A (p.Arg206His) rs139461508
NM_144687.4(NLRP12):c.617G>T (p.Arg206Leu)
NM_144687.4(NLRP12):c.61G>A (p.Glu21Lys)
NM_144687.4(NLRP12):c.62A>C (p.Glu21Ala)
NM_144687.4(NLRP12):c.62A>T (p.Glu21Val)
NM_144687.4(NLRP12):c.631C>A (p.Arg211Ser) rs561178624
NM_144687.4(NLRP12):c.634A>C (p.Thr212Pro) rs1162807112
NM_144687.4(NLRP12):c.634_636dup (p.Thr212_Val213insThr)
NM_144687.4(NLRP12):c.637G>A (p.Val213Met) rs762132235
NM_144687.4(NLRP12):c.650dup (p.Ala218fs) rs2122680092
NM_144687.4(NLRP12):c.652G>A (p.Ala218Thr)
NM_144687.4(NLRP12):c.654_656delinsAGGA (p.Ala219fs) rs2092063889
NM_144687.4(NLRP12):c.659G>C (p.Gly220Ala)
NM_144687.4(NLRP12):c.661A>G (p.Ile221Val) rs1288515851
NM_144687.4(NLRP12):c.664G>A (p.Gly222Ser)
NM_144687.4(NLRP12):c.671C>T (p.Ser224Phe)
NM_144687.4(NLRP12):c.682C>T (p.His228Tyr)
NM_144687.4(NLRP12):c.688G>A (p.Val230Met)
NM_144687.4(NLRP12):c.695T>C (p.Leu232Pro) rs761110604
NM_144687.4(NLRP12):c.700T>G (p.Trp234Gly)
NM_144687.4(NLRP12):c.706G>A (p.Asp236Asn)
NM_144687.4(NLRP12):c.709G>A (p.Gly237Arg)
NM_144687.4(NLRP12):c.709G>C (p.Gly237Arg)
NM_144687.4(NLRP12):c.713A>G (p.Lys238Arg)
NM_144687.4(NLRP12):c.716T>C (p.Leu239Pro)
NM_144687.4(NLRP12):c.725G>A (p.Gly242Asp) rs2122678718
NM_144687.4(NLRP12):c.733_736del (p.Asp245fs) rs2092061896
NM_144687.4(NLRP12):c.739C>T (p.Leu247Phe)
NM_144687.4(NLRP12):c.73C>G (p.Leu25Val) rs1446525646
NM_144687.4(NLRP12):c.740T>A (p.Leu247His) rs2122678582
NM_144687.4(NLRP12):c.742T>G (p.Phe248Val) rs1286975157
NM_144687.4(NLRP12):c.748A>G (p.Ile250Val) rs2092061524
NM_144687.4(NLRP12):c.748A>T (p.Ile250Phe) rs2092061524
NM_144687.4(NLRP12):c.749T>A (p.Ile250Asn)
NM_144687.4(NLRP12):c.764T>C (p.Met255Thr) rs2092061160
NM_144687.4(NLRP12):c.76AAG[1] (p.Lys27del) rs2092308139
NM_144687.4(NLRP12):c.794A>G (p.Gln265Arg)
NM_144687.4(NLRP12):c.802A>G (p.Ile268Val) rs2092060114
NM_144687.4(NLRP12):c.811T>C (p.Cys271Arg)
NM_144687.4(NLRP12):c.829G>A (p.Ala277Thr)
NM_144687.4(NLRP12):c.832C>T (p.Pro278Ser) rs2122676644
NM_144687.4(NLRP12):c.833C>A (p.Pro278His)
NM_144687.4(NLRP12):c.835C>G (p.Leu279Val) rs376185824
NM_144687.4(NLRP12):c.836_867dup (p.Leu290fs)
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter) rs145049569
NM_144687.4(NLRP12):c.843G>C (p.Glu281Asp) rs2092058829
NM_144687.4(NLRP12):c.843G>T (p.Glu281Asp)
NM_144687.4(NLRP12):c.851G>A (p.Arg284Gln) rs537256190
NM_144687.4(NLRP12):c.863G>A (p.Arg288His)
NM_144687.4(NLRP12):c.865C>G (p.Leu289Val)
NM_144687.4(NLRP12):c.868_870del (p.Leu290del) rs2122675887
NM_144687.4(NLRP12):c.896T>G (p.Leu299Arg)
NM_144687.4(NLRP12):c.8G>A (p.Arg3Gln)
NM_144687.4(NLRP12):c.902C>T (p.Pro301Leu)
NM_144687.4(NLRP12):c.904T>C (p.Ser302Pro)
NM_144687.4(NLRP12):c.908del (p.Phe303fs) rs776056868
NM_144687.4(NLRP12):c.913G>C (p.Asp305His)
NM_144687.4(NLRP12):c.917C>T (p.Pro306Leu) rs949584865
NM_144687.4(NLRP12):c.926C>A (p.Pro309His) rs1410857959
NM_144687.4(NLRP12):c.930G>A (p.Trp310Ter) rs1599843277
NM_144687.4(NLRP12):c.949A>C (p.Lys317Gln) rs2122674313
NM_144687.4(NLRP12):c.952C>T (p.Arg318Trp) rs140585311
NM_144687.4(NLRP12):c.956C>T (p.Pro319Leu) rs35401786
NM_144687.4(NLRP12):c.959C>T (p.Thr320Met) rs560825505
NM_144687.4(NLRP12):c.962A>C (p.Glu321Ala) rs2092055408
NM_144687.4(NLRP12):c.967CTT[1] (p.Leu324del) rs1568681230
NM_144687.4(NLRP12):c.978C>A (p.Ser326Arg)
NM_144687.4(NLRP12):c.994C>A (p.Leu332Met)
NM_144687.4(NLRP12):c.998T>C (p.Leu333Pro) rs2092054789
NM_148919.4(PSMB8):c.*116C>T rs56138642
NM_148919.4(PSMB8):c.-35C>T rs886061311
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)
NM_148919.4(PSMB8):c.112C>A (p.Arg38=) rs2127380261
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser) rs780017925
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr) rs776484021
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile) rs2127380153
NM_148919.4(PSMB8):c.148-10_148-6del rs1562352647
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro) rs2127378839
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro) rs1770032427
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys) rs1770030436
NM_148919.4(PSMB8):c.212A>G (p.His71Arg)
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)
NM_148919.4(PSMB8):c.240C>T (p.Phe80=) rs529946385
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val) rs1770128124
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser) rs753139724
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) rs1381795628
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met) rs371826956
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) rs1769997640
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) rs1769996135
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val) rs1770125566
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp) rs2127378014
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) rs1769994178
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.4(PSMB8):c.392T>C (p.Leu131Pro) rs1295954266
NM_148919.4(PSMB8):c.408G>A (p.Arg136=)
NM_148919.4(PSMB8):c.408G>C (p.Arg136Ser) rs764187500
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys) rs1769955269
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr) rs756049842
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) rs1582605795
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro) rs2127376494
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys) rs1012282076
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg) rs2127376068
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser) rs2127376054
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val) rs200995701
NM_148919.4(PSMB8):c.743-5C>T
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu) rs2127375356
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.4(PSMB8):c.807C>A (p.His269Gln)
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val) rs2127380594
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493
NM_173170.1(IL36RN):c.-27-299G>C rs552166255
NM_173841.2(IL1RN):c.*1145A>G rs886054779
NM_173841.3(IL1RN):c.10+4A>G
NM_173841.3(IL1RN):c.16T>G (p.Leu6Val) rs1686715665
NM_173841.3(IL1RN):c.18G>T (p.Leu6Phe)
NM_173841.3(IL1RN):c.19T>C (p.Tyr7His) rs2104437414
NM_173841.3(IL1RN):c.44G>A (p.Gly15Glu) rs1573288353
NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr) rs1226009223
NM_173841.3(IL1RN):c.4G>T (p.Ala2Ser)
NM_173842.3(IL1RN):c.*1049A>G rs886054778
NM_173842.3(IL1RN):c.*1070T>G rs1687262003
NM_173842.3(IL1RN):c.*290T>A rs1687235105
NM_173842.3(IL1RN):c.*350C>G rs1687237466
NM_173842.3(IL1RN):c.*369T>A rs886054775
NM_173842.3(IL1RN):c.*490del rs565976240
NM_173842.3(IL1RN):c.*691del rs4252029
NM_173842.3(IL1RN):c.109G>T (p.Ala37Ser) rs1573301763
NM_173842.3(IL1RN):c.145T>C (p.Tyr49His)
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile) rs557348234
NM_173842.3(IL1RN):c.173G>T (p.Gly58Val) rs1281227831
NM_173842.3(IL1RN):c.185G>A (p.Gly62Glu) rs1203011392
NM_173842.3(IL1RN):c.205+8G>A rs762763281
NM_173842.3(IL1RN):c.207A>G (p.Glu69=) rs1274769729
NM_173842.3(IL1RN):c.210G>T (p.Lys70Asn) rs2104458628
NM_173842.3(IL1RN):c.220G>A (p.Val74Ile) rs775303057
NM_173842.3(IL1RN):c.245T>A (p.Phe82Tyr) rs1553469985
NM_173842.3(IL1RN):c.249G>A (p.Leu83=) rs1292754474
NM_173842.3(IL1RN):c.288G>A (p.Lys96=) rs1442053811
NM_173842.3(IL1RN):c.306_312del (p.Arg102fs)
NM_173842.3(IL1RN):c.318+12C>G rs561872655
NM_173842.3(IL1RN):c.318+3A>G rs201701192
NM_173842.3(IL1RN):c.318+9A>T rs758726151
NM_173842.3(IL1RN):c.331dup (p.Thr111fs) rs1687213897
NM_173842.3(IL1RN):c.377T>C (p.Ile126Thr) rs1483517191
NM_173842.3(IL1RN):c.380G>A (p.Arg127His)
NM_173842.3(IL1RN):c.380G>T (p.Arg127Leu) rs780956028
NM_173842.3(IL1RN):c.386_389del (p.Asp129fs) rs2104462417
NM_173842.3(IL1RN):c.390_391inv (p.Gly131Ser)
NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys) rs1687217114
NM_173842.3(IL1RN):c.422G>C (p.Cys141Ser) rs2104462545
NM_173842.3(IL1RN):c.450G>A (p.Met150Ile) rs1453476284
NM_173842.3(IL1RN):c.500T>A (p.Met167Lys) rs765957403
NM_173842.3(IL1RN):c.526G>A (p.Asp176Asn) rs1191497599
NM_173842.3(IL1RN):c.526G>T (p.Asp176Tyr) rs1191497599
NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln) rs758363942
NM_173842.3(IL1RN):c.97A>G (p.Ser33Gly)
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.596T>A (p.Val199Glu) rs778390086
NM_183235.3(RAB27A):c.609T>C (p.Gly203=) rs2140890943
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204
NM_198282.4(STING1):c.1013del (p.Lys338fs) rs765347385
NM_198282.4(STING1):c.1015G>A (p.Glu339Lys) rs1751660621
NM_198282.4(STING1):c.1021G>C (p.Val341Leu) rs1751660369
NM_198282.4(STING1):c.1025C>A (p.Thr342Asn)
NM_198282.4(STING1):c.1025del (p.Thr342fs) rs1581447916
NM_198282.4(STING1):c.1027G>A (p.Val343Met)
NM_198282.4(STING1):c.1028T>C (p.Val343Ala)
NM_198282.4(STING1):c.102G>C (p.Trp34Cys)
NM_198282.4(STING1):c.1061C>A (p.Thr354Asn)
NM_198282.4(STING1):c.1061C>T (p.Thr354Ile)
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)
NM_198282.4(STING1):c.1104G>A (p.Met368Ile) rs1215030543
NM_198282.4(STING1):c.1124G>A (p.Arg375His) rs117897081
NM_198282.4(STING1):c.1127C>G (p.Thr376Arg) rs370381358
NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr) rs1368968919
NM_198282.4(STING1):c.125A>C (p.His42Pro)
NM_198282.4(STING1):c.128C>T (p.Thr43Ile)
NM_198282.4(STING1):c.133C>T (p.Arg45Trp)
NM_198282.4(STING1):c.159C>A (p.Ser53=) rs2152094475
NM_198282.4(STING1):c.170G>T (p.Gly57Val)
NM_198282.4(STING1):c.211C>T (p.Arg71Cys)
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln) rs1751847315
NM_198282.4(STING1):c.21T>G (p.His7Gln)
NM_198282.4(STING1):c.220C>T (p.His74Tyr) rs745727679
NM_198282.4(STING1):c.227+10T>A rs1392211552
NM_198282.4(STING1):c.227+1G>A rs1751846731
NM_198282.4(STING1):c.227+4A>G rs2152094440
NM_198282.4(STING1):c.228-3C>T rs1751840868
NM_198282.4(STING1):c.233G>C (p.Arg78Pro) rs11554775
NM_198282.4(STING1):c.257G>C (p.Arg86Pro) rs777336363
NM_198282.4(STING1):c.259G>A (p.Ala87Thr)
NM_198282.4(STING1):c.272G>A (p.Cys91Tyr) rs2152094379
NM_198282.4(STING1):c.275C>A (p.Pro92His) rs1428188237
NM_198282.4(STING1):c.280C>T (p.Arg94Cys)
NM_198282.4(STING1):c.290C>A (p.Ala97Asp)
NM_198282.4(STING1):c.325C>T (p.Leu109Phe)
NM_198282.4(STING1):c.333T>A (p.Asn111Lys)
NM_198282.4(STING1):c.335C>T (p.Ala112Val)
NM_198282.4(STING1):c.364G>A (p.Ala122Thr)
NM_198282.4(STING1):c.376C>G (p.Leu126Val)
NM_198282.4(STING1):c.389T>C (p.Leu130Pro)
NM_198282.4(STING1):c.395T>A (p.Ile132Asn)
NM_198282.4(STING1):c.395T>G (p.Ile132Ser) rs1346414429
NM_198282.4(STING1):c.397C>T (p.Leu133Phe) rs2152094323
NM_198282.4(STING1):c.40del (p.Arg14fs)
NM_198282.4(STING1):c.411+3A>G
NM_198282.4(STING1):c.413G>C (p.Gly138Ala) rs889105527
NM_198282.4(STING1):c.428A>C (p.Glu143Ala)
NM_198282.4(STING1):c.42G>A (p.Arg14=)
NM_198282.4(STING1):c.44dup (p.His16fs) rs1581455186
NM_198282.4(STING1):c.479C>T (p.Ala160Val) rs767904008
NM_198282.4(STING1):c.493A>C (p.Ile165Leu) rs768359336
NM_198282.4(STING1):c.496G>T (p.Gly166Ter)
NM_198282.4(STING1):c.498A>G (p.Gly166=)
NM_198282.4(STING1):c.498A>T (p.Gly166=) rs1713610226
NM_198282.4(STING1):c.505C>T (p.Arg169Trp)
NM_198282.4(STING1):c.520G>A (p.Glu174Lys)
NM_198282.4(STING1):c.524T>C (p.Leu175Pro)
NM_198282.4(STING1):c.529G>A (p.Ala177Thr) rs2152093638
NM_198282.4(STING1):c.533G>A (p.Arg178Gln)
NM_198282.4(STING1):c.538C>T (p.Arg180Ter)
NM_198282.4(STING1):c.545A>C (p.Tyr182Ser)
NM_198282.4(STING1):c.551A>T (p.Gln184Leu)
NM_198282.4(STING1):c.5C>T (p.Pro2Leu)
NM_198282.4(STING1):c.602T>C (p.Leu201Pro) rs1581450494
NM_198282.4(STING1):c.61_64del (p.Ala21fs)
NM_198282.4(STING1):c.620G>A (p.Gly207Glu)
NM_198282.4(STING1):c.620G>T (p.Gly207Val)
NM_198282.4(STING1):c.622G>A (p.Val208Met)
NM_198282.4(STING1):c.658C>T (p.Arg220Cys)
NM_198282.4(STING1):c.65C>A (p.Ala22Asp)
NM_198282.4(STING1):c.688G>T (p.Gly230Cys)
NM_198282.4(STING1):c.688_689delinsTC (p.Gly230Ser) rs1751724669
NM_198282.4(STING1):c.691G>A (p.Asp231Asn)
NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer)
NM_198282.4(STING1):c.69G>C (p.Leu23Phe)
NM_198282.4(STING1):c.70G>T (p.Val24Phe)
NM_198282.4(STING1):c.710A>G (p.Asp237Gly) rs1167471683
NM_198282.4(STING1):c.722G>C (p.Ser241Thr)
NM_198282.4(STING1):c.755A>G (p.Gln252Arg)
NM_198282.4(STING1):c.759+3A>G
NM_198282.4(STING1):c.760-2_766delinsTACCT rs2152093375
NM_198282.4(STING1):c.777G>A (p.Leu259=)
NM_198282.4(STING1):c.785C>G (p.Ala262Gly) rs2152093371
NM_198282.4(STING1):c.790C>T (p.Pro264Ser) rs141928874
NM_198282.4(STING1):c.7C>T (p.His3Tyr) rs1490896074
NM_198282.4(STING1):c.804G>C (p.Leu268Phe) rs2152093364
NM_198282.4(STING1):c.808G>A (p.Ala270Thr)
NM_198282.4(STING1):c.826C>G (p.Gln276Glu)
NM_198282.4(STING1):c.844G>A (p.Glu282Lys)
NM_198282.4(STING1):c.845A>G (p.Glu282Gly) rs1483629542
NM_198282.4(STING1):c.847G>A (p.Asp283Asn)
NM_198282.4(STING1):c.851G>A (p.Arg284Lys)
NM_198282.4(STING1):c.856G>A (p.Glu286Lys)
NM_198282.4(STING1):c.862G>A (p.Ala288Thr)
NM_198282.4(STING1):c.908C>A (p.Pro303His)
NM_198282.4(STING1):c.91G>T (p.Val31Leu)
NM_198282.4(STING1):c.92T>C (p.Val31Ala) rs1321304491
NM_198282.4(STING1):c.931C>T (p.Leu311Phe)
NM_198282.4(STING1):c.932T>C (p.Leu311Pro)
NM_198282.4(STING1):c.946+5G>A
NM_198282.4(STING1):c.946+5G>T
NM_198282.4(STING1):c.946+6G>A
NM_198282.4(STING1):c.946+6G>C
NM_198282.4(STING1):c.947-3C>T
NM_198282.4(STING1):c.952G>C (p.Ala318Pro)
NM_198282.4(STING1):c.952G>T (p.Ala318Ser) rs1561482019
NM_198282.4(STING1):c.95C>T (p.Thr32Ile)
NM_198282.4(STING1):c.979C>A (p.Gln327Lys) rs201015563
NM_198282.4(STING1):c.980A>C (p.Gln327Pro)
NM_198282.4(STING1):c.991C>T (p.Arg331Trp)
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=) rs2143877155
NM_199242.3(UNC13D):c.2410T>C (p.Tyr804His) rs2143871262
NM_199242.3(UNC13D):c.2696G>A (p.Arg899Gln) rs1456196107
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.321+9G>A rs779684660
NM_199242.3(UNC13D):c.519G>C (p.Thr173=) rs370278536
NM_199242.3(UNC13D):c.570-6A>C rs2143894697
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) rs1389539812
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) rs999897934
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) rs763536229
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) rs758194845
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) rs1321100355
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) rs2134967559
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
NM_207122.2(EXT2):c.471C>A (p.Ile157=) rs747429885
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) rs1954089321
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.626+6A>T
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) rs372237191
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) rs2135014787
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) rs201895861
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) rs1954377301
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.922T>C (p.Tyr308His) rs2135015647
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
NM_207122.2(EXT2):c.931G>A (p.Val311Met) rs1449762239
NM_207122.2(EXT2):c.933G>A (p.Val311=)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) rs761729774
NM_212482.4(FN1):c.1481T>C (p.Met494Thr) rs2064511350
NM_212482.4(FN1):c.1888T>G (p.Trp630Gly) rs2106350896
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) rs770505069
NM_212482.4(FN1):c.2299+3A>T rs2062278053
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
NM_212482.4(FN1):c.3009_3010del (p.Gln1004fs)
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) rs144581583
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu) rs1334066739
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu) rs202245868
NM_212482.4(FN1):c.5164+3A>G rs2105944563
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs) rs771111687
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys) rs759085028
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del) rs1278884339
NR_023317.1(RNU7-1):n.23T>G
NR_149149.2(NPM1):n.858_859del rs2113301411

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