ClinVar Miner

List of variants reported as likely benign for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1644
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030773.4(TUBB1):c.920G>A (p.Arg307His) rs6070697 0.16486
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_014915.3(ANKRD26):c.*815dup rs397845107 0.10151
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_014915.3(ANKRD26):c.*1235del rs112091269 0.08856
NM_014915.3(ANKRD26):c.*68_*69del rs3215884 0.08761
NM_139025.4(ADAMTS13):c.-357T>C rs34265876 0.07895
NM_032844.4(MASTL):c.-481C>T rs28365962 0.07150
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_032844.4(MASTL):c.-199G>C rs41282216 0.05801
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_005373.3(MPL):c.*662C>T rs1763698 0.02711
NM_001001548.3(CD36):c.1125+13C>A rs3211942 0.02510
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_015175.3(NBEAL2):c.*219A>C rs1048808 0.01517
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_002473.5(MYH9):c.-201G>A rs189394948 0.01205
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_002203.4(ITGA2):c.1096+11dup rs570925083 0.00851
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_005373.3(MPL):c.*709C>T rs185654501 0.00766
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_032844.4(MASTL):c.-106T>C rs3824594 0.00700
NM_139025.4(ADAMTS13):c.-168C>T rs36218240 0.00689
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_002473.5(MYH9):c.*1394C>T rs144335048 0.00657
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_139027.6(ADAMTS13):c.824+13C>T rs149586801 0.00593
NM_139027.6(ADAMTS13):c.*77C>T rs180910039 0.00559
NM_005373.3(MPL):c.*601C>T rs527941032 0.00524
NM_002203.4(ITGA2):c.*1641C>G rs10076541 0.00494
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_002203.4(ITGA2):c.*1921G>T rs9292006 0.00470
NM_005476.7(GNE):c.-65G>A rs138897916 0.00463
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00414
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_005373.3(MPL):c.*1506G>A rs115780311 0.00362
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_015175.3(NBEAL2):c.5301+11C>T rs201354947 0.00274
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met) rs74988902 0.00239
NM_005373.3(MPL):c.*364C>T rs138892634 0.00233
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) rs61736876 0.00221
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00196
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_005373.3(MPL):c.*1116G>A rs144177827 0.00175
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00118
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383 0.00102
NM_002203.4(ITGA2):c.*3331A>G rs140380471 0.00101
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) rs147263592 0.00096
NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser) rs2287870 0.00096
NM_005373.3(MPL):c.*573G>A rs192016153 0.00093
NM_002203.4(ITGA2):c.2241C>T (p.Pro747=) rs41366951 0.00091
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_005373.3(MPL):c.*748C>T rs190071085 0.00087
NM_000412.5(HRG):c.1379G>A (p.Arg460Gln) rs148716747 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_002473.5(MYH9):c.*1399C>T rs544966086 0.00076
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_001382567.1(STIM1):c.2079C>A (p.Gly693=) rs147912041 0.00070
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005476.7(GNE):c.1245C>T (p.Gly415=) rs140784655 0.00059
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His) rs140080199 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_005476.7(GNE):c.165-18A>G rs374105190 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_000460.4(THPO):c.*18G>A rs180680111 0.00034
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) rs145918825 0.00034
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_001172303.3(MASTL):c.1654A>G (p.Ser552Gly) rs369253474 0.00029
NM_001382567.1(STIM1):c.114C>G (p.Ala38=) rs150033189 0.00029
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_001382567.1(STIM1):c.386-11T>C rs368922449 0.00028
NM_005373.3(MPL):c.*94C>A rs77858532 0.00027
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_002203.4(ITGA2):c.*3028G>A rs547012254 0.00026
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_001382567.1(STIM1):c.1128C>T (p.Ala376=) rs200375470 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_005373.3(MPL):c.*1486T>C rs149940158 0.00020
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_005105.5(RBM8A):c.342+19T>C rs200836721 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_001129820.2(SLFN14):c.426T>G (p.Ser142Arg) rs189281314 0.00015
NM_001382567.1(STIM1):c.140-15G>C rs202069849 0.00015
NM_001382567.1(STIM1):c.1568-9T>C rs201450136 0.00015
NM_001382567.1(STIM1):c.969+10T>G rs764751709 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_000419.5(ITGA2B):c.408+16C>T rs377288289 0.00014
NM_002658.6(PLAU):c.453C>T (p.Cys151=) rs374267816 0.00014
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_001382567.1(STIM1):c.570G>T (p.Leu190=) rs200233698 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_001382567.1(STIM1):c.105C>T (p.Ser35=) rs139540641 0.00012
NM_001382567.1(STIM1):c.792-8C>T rs201395930 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005476.7(GNE):c.1620T>C (p.Leu540=) rs774849278 0.00012
NM_005476.7(GNE):c.1634-7G>A rs139442869 0.00012
NM_000377.3(WAS):c.206G>C (p.Cys69Ser) rs374283590 0.00011
NM_000377.3(WAS):c.266G>A (p.Gly89Asp) rs139857045 0.00011
NM_000377.3(WAS):c.593C>T (p.Ala198Val) rs200261212 0.00011
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_001382567.1(STIM1):c.1634+11G>A rs199732479 0.00011
NM_001382567.1(STIM1):c.970-15C>G rs188804715 0.00011
NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys) rs146370217 0.00011
NM_002203.4(ITGA2):c.780-11A>T rs202058704 0.00011
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly) rs773985586 0.00010
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00010
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00010
NM_000174.5(GP9):c.-128C>T rs554290942 0.00009
NM_000377.3(WAS):c.351C>T (p.Phe117=) rs143299151 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_001382567.1(STIM1):c.1635-15C>T rs749764733 0.00009
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp) rs200648767 0.00009
NM_001382567.1(STIM1):c.774G>T (p.Leu258=) rs140997213 0.00009
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1803C>T (p.Thr601=) rs140794721 0.00009
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.616+20G>C rs111358992 0.00009
NM_005476.7(GNE):c.983-4C>T rs145450498 0.00009
NM_014915.3(ANKRD26):c.5060A>T (p.Asn1687Ile) rs373138646 0.00009
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_001382567.1(STIM1):c.1848G>A (p.Ala616=) rs201902860 0.00008
NM_001382567.1(STIM1):c.603G>A (p.Gly201=) rs142843376 0.00008
NM_001382567.1(STIM1):c.975G>C (p.Arg325=) rs200963440 0.00008
NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val) rs41441846 0.00008
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) rs201156815 0.00007
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583 0.00007
NM_000377.3(WAS):c.1339-3C>T rs373491815 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000419.5(ITGA2B):c.1413C>T (p.Tyr471=) rs78218617 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698 0.00006
NM_001172303.3(MASTL):c.1210C>T (p.Leu404=) rs145821259 0.00006
NM_001382567.1(STIM1):c.139+6G>A rs200233935 0.00006
NM_001382567.1(STIM1):c.1474+16dup rs750124776 0.00006
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala) rs139432975 0.00006
NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser) rs767342253 0.00006
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.1542G>A (p.Arg514=) rs367960803 0.00006
NM_005373.3(MPL):c.1573A>C (p.Arg525=) rs143100182 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_014915.3(ANKRD26):c.1213A>G (p.Met405Val) rs555822164 0.00006
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538 0.00006
NM_000174.5(GP9):c.123C>T (p.His41=) rs201755437 0.00005
NM_000377.3(WAS):c.361-17C>T rs782768055 0.00005
NM_000377.3(WAS):c.490A>C (p.Thr164Pro) rs781918613 0.00005
NM_000377.3(WAS):c.69C>T (p.Pro23=) rs1557006235 0.00005
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
NM_000460.4(THPO):c.852G>A (p.Leu284=) rs150122652 0.00005
NM_001382567.1(STIM1):c.872A>G (p.Asn291Ser) rs138848040 0.00005
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_014915.3(ANKRD26):c.269A>G (p.Asn90Ser) rs752629436 0.00005
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) rs78121013 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.1965A>C (p.Leu655=) rs748671094 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile) rs188284396 0.00004
NM_001172303.3(MASTL):c.2245C>T (p.Leu749=) rs370730895 0.00004
NM_001382567.1(STIM1):c.1425C>T (p.Asp475=) rs200776986 0.00004
NM_001382567.1(STIM1):c.177G>A (p.Glu59=) rs553909431 0.00004
NM_001382567.1(STIM1):c.1974A>G (p.Pro658=) rs201051821 0.00004
NM_001382567.1(STIM1):c.385+16G>A rs766833809 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_005476.7(GNE):c.-42-18T>C rs1359152687 0.00004
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1634-13T>C rs375600956 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.726A>G (p.Ser242=) rs763368889 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_014915.3(ANKRD26):c.1565-4T>C rs747570982 0.00004
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.594G>A (p.Ala198=) rs376545922 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_001172303.3(MASTL):c.*51T>A rs752083792 0.00003
NM_001172303.3(MASTL):c.478G>A (p.Asp160Asn) rs201425706 0.00003
NM_001382567.1(STIM1):c.108G>A (p.Ser36=) rs551284324 0.00003
NM_001382567.1(STIM1):c.1204C>T (p.Leu402=) rs201091587 0.00003
NM_001382567.1(STIM1):c.1251C>T (p.Ser417=) rs199782037 0.00003
NM_001382567.1(STIM1):c.1634+7A>G rs371193534 0.00003
NM_001382567.1(STIM1):c.271-19G>A rs763590946 0.00003
NM_001382567.1(STIM1):c.306A>G (p.Thr102=) rs140167452 0.00003
NM_001382567.1(STIM1):c.393T>C (p.Asn131=) rs764275626 0.00003
NM_001382567.1(STIM1):c.810G>A (p.Glu270=) rs201765594 0.00003
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) rs150313549 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_004531.5(MOCS2):c.*171G>C rs191465075 0.00003
NM_005373.3(MPL):c.1665A>G (p.Thr555=) rs981464721 0.00003
NM_005373.3(MPL):c.978C>T (p.Asp326=) rs202119310 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1434A>G (p.Val478=) rs1473072355 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033 0.00003
NM_014915.3(ANKRD26):c.452A>C (p.His151Pro) rs752031374 0.00003
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) rs1307143057 0.00002
NM_000377.3(WAS):c.1218C>T (p.Ser406=) rs370053372 0.00002
NM_000377.3(WAS):c.1245C>T (p.Leu415=) rs1557007301 0.00002
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491 0.00002
NM_000377.3(WAS):c.1266C>T (p.Ala422=) rs782041815 0.00002
NM_000377.3(WAS):c.1476C>T (p.Gly492=) rs1161895393 0.00002
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) rs781790075 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000377.3(WAS):c.274-4C>T rs782527416 0.00002
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.575C>T (p.Pro192Leu) rs782745511 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.690A>C (p.Pro230=) rs776840984 0.00002
NM_001172303.3(MASTL):c.1556C>T (p.Thr519Ile) rs147548167 0.00002
NM_001382567.1(STIM1):c.1068G>A (p.Glu356=) rs761203064 0.00002
NM_001382567.1(STIM1):c.1238+9C>T rs375604403 0.00002
NM_001382567.1(STIM1):c.1599C>T (p.Arg533=) rs377102721 0.00002
NM_001382567.1(STIM1):c.1656G>A (p.Ser552=) rs148209416 0.00002
NM_001382567.1(STIM1):c.1773C>T (p.Ile591=) rs1308455316 0.00002
NM_001382567.1(STIM1):c.270+13A>G rs201780058 0.00002
NM_001382567.1(STIM1):c.285C>T (p.Asp95=) rs780488492 0.00002
NM_001382567.1(STIM1):c.738G>A (p.Lys246=) rs536528954 0.00002
NM_001382567.1(STIM1):c.969+16A>G rs774941610 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro) rs148313613 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_005373.3(MPL):c.1014G>A (p.Glu338=) rs767497390 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00002
NM_005373.3(MPL):c.1632G>A (p.Arg544=) rs780927987 0.00002
NM_005476.7(GNE):c.1030T>C (p.Leu344=) rs746461207 0.00002
NM_005476.7(GNE):c.1281+19T>C rs1220093810 0.00002
NM_005476.7(GNE):c.1368T>A (p.Ala456=) rs779157758 0.00002
NM_005476.7(GNE):c.1674C>T (p.His558=) rs144931111 0.00002
NM_005476.7(GNE):c.1816+17C>T rs756465454 0.00002
NM_005476.7(GNE):c.2061C>G (p.Ala687=) rs765296741 0.00002
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600 0.00002
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534 0.00002
NM_005476.7(GNE):c.447C>T (p.Ala149=) rs772851707 0.00002
NM_005476.7(GNE):c.903C>T (p.Ser301=) rs777440792 0.00002
NM_014915.3(ANKRD26):c.3367A>G (p.Asn1123Asp) rs746125031 0.00002
NM_014915.3(ANKRD26):c.3704A>T (p.Gln1235Leu) rs765506121 0.00002
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) rs2065090622 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000377.3(WAS):c.1255C>A (p.Leu419Met) rs1422863482 0.00001
NM_000377.3(WAS):c.1303T>C (p.Leu435=) rs1557007338 0.00001
NM_000377.3(WAS):c.1338+8C>T rs782158640 0.00001
NM_000377.3(WAS):c.1339-4G>A rs782436940 0.00001
NM_000377.3(WAS):c.1407C>T (p.Ala469=) rs782264561 0.00001
NM_000377.3(WAS):c.1416C>T (p.His472=) rs377442612 0.00001
NM_000377.3(WAS):c.1425G>A (p.Gln475=) rs1351097717 0.00001
NM_000377.3(WAS):c.1479T>C (p.Asp493=) rs782452466 0.00001
NM_000377.3(WAS):c.360+8A>G rs1557006508 0.00001
NM_000377.3(WAS):c.411C>T (p.Phe137=) rs1474269671 0.00001
NM_000377.3(WAS):c.505+3_505+7dup rs1557006628 0.00001
NM_000377.3(WAS):c.849C>T (p.Asp283=) rs1557007034 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.954G>A (p.Pro318=) rs1366022019 0.00001
NM_000377.3(WAS):c.985C>G (p.Pro329Ala) rs1557007136 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000460.4(THPO):c.310C>A (p.Pro104Thr) rs200191903 0.00001
NM_001128227.3(GNE):c.12T>C (p.Tyr4=) rs556904933 0.00001
NM_001128227.3(GNE):c.15T>C (p.Gly5=) rs192260997 0.00001
NM_001128227.3(GNE):c.51+12G>A rs374490097 0.00001
NM_001128227.3(GNE):c.51+18C>A rs1370632267 0.00001
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser) rs751123192 0.00001
NM_001172303.3(MASTL):c.1703A>C (p.Asn568Thr) rs761812157 0.00001
NM_001172303.3(MASTL):c.1876C>G (p.Pro626Ala) rs145592194 0.00001
NM_001382567.1(STIM1):c.1071G>A (p.Val357=) rs1288963987 0.00001
NM_001382567.1(STIM1):c.1089C>T (p.Asn363=) rs376193363 0.00001
NM_001382567.1(STIM1):c.1125G>T (p.Val375=) rs201975335 0.00001
NM_001382567.1(STIM1):c.1134G>A (p.Glu378=) rs920883663 0.00001
NM_001382567.1(STIM1):c.1185C>T (p.His395=) rs1027836784 0.00001
NM_001382567.1(STIM1):c.1238+10A>C rs201116081 0.00001
NM_001382567.1(STIM1):c.1239-10C>T rs201644728 0.00001
NM_001382567.1(STIM1):c.1299C>T (p.Ile433=) rs200738706 0.00001
NM_001382567.1(STIM1):c.1317C>T (p.Phe439=) rs1179975549 0.00001
NM_001382567.1(STIM1):c.139+16G>A rs754570282 0.00001
NM_001382567.1(STIM1):c.1623G>A (p.Leu541=) rs747948099 0.00001
NM_001382567.1(STIM1):c.1653T>C (p.Asp551=) rs1304754642 0.00001
NM_001382567.1(STIM1):c.1719T>A (p.Arg573=) rs200164426 0.00001
NM_001382567.1(STIM1):c.1725A>G (p.Ala575=) rs146393409 0.00001
NM_001382567.1(STIM1):c.1728C>T (p.Asp576=) rs542778043 0.00001
NM_001382567.1(STIM1):c.1893C>T (p.Ser631=) rs781756003 0.00001
NM_001382567.1(STIM1):c.1932T>C (p.Ser644=) rs1367856839 0.00001
NM_001382567.1(STIM1):c.1935C>T (p.Ser645=) rs766224297 0.00001
NM_001382567.1(STIM1):c.2142T>C (p.Leu714=) rs199935070 0.00001
NM_001382567.1(STIM1):c.228C>T (p.Asp76=) rs749540812 0.00001
NM_001382567.1(STIM1):c.300C>T (p.Asp100=) rs200658405 0.00001
NM_001382567.1(STIM1):c.348C>T (p.Ser116=) rs200075076 0.00001
NM_001382567.1(STIM1):c.385+7G>A rs370889167 0.00001
NM_001382567.1(STIM1):c.399C>T (p.Thr133=) rs199513192 0.00001
NM_001382567.1(STIM1):c.414A>G (p.Val138=) rs1319501573 0.00001
NM_001382567.1(STIM1):c.474G>A (p.Gln158=) rs1199018766 0.00001
NM_001382567.1(STIM1):c.498-4A>C rs977105613 0.00001
NM_001382567.1(STIM1):c.531T>A (p.Thr177=) rs767768485 0.00001
NM_001382567.1(STIM1):c.613+11T>A rs1048701700 0.00001
NM_001382567.1(STIM1):c.660C>T (p.Ile220=) rs200982503 0.00001
NM_001382567.1(STIM1):c.675C>T (p.Gly225=) rs151061361 0.00001
NM_001382567.1(STIM1):c.717G>A (p.Glu239=) rs1255140437 0.00001
NM_001382567.1(STIM1):c.744G>A (p.Leu248=) rs764311095 0.00001
NM_001382567.1(STIM1):c.909G>A (p.Leu303=) rs1402539076 0.00001
NM_001382567.1(STIM1):c.912G>C (p.Arg304=) rs533692595 0.00001
NM_001382567.1(STIM1):c.969+15A>T rs1457105275 0.00001
NM_001382567.1(STIM1):c.970-16C>A rs201003963 0.00001
NM_001382567.1(STIM1):c.9A>G (p.Val3=) rs765248656 0.00001
NM_001791.4(CDC42):c.510C>T (p.Asp170=) rs200782611 0.00001
NM_001791.4(CDC42):c.529C>T (p.Leu177=) rs759623419 0.00001
NM_002203.4(ITGA2):c.1176T>C (p.Asp392=) rs144998443 0.00001
NM_002203.4(ITGA2):c.1524G>A (p.Val508=) rs757932706 0.00001
NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys) rs761499417 0.00001
NM_002203.4(ITGA2):c.2571+15C>G rs534251174 0.00001
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002658.6(PLAU):c.57+6T>C rs770181188 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1140C>G (p.Gly380=) rs745697567 0.00001
NM_005373.3(MPL):c.1165+10T>C rs1392500587 0.00001
NM_005373.3(MPL):c.1165+8C>A rs760520500 0.00001
NM_005373.3(MPL):c.1166-4G>A rs753315546 0.00001
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 0.00001
NM_005373.3(MPL):c.1353G>A (p.Leu451=) rs1218597246 0.00001
NM_005373.3(MPL):c.1443T>C (p.Thr481=) rs769867816 0.00001
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893 0.00001
NM_005373.3(MPL):c.1468+8A>G rs1221843249 0.00001
NM_005373.3(MPL):c.1469-10T>C rs756761741 0.00001
NM_005373.3(MPL):c.1554T>G (p.Pro518=) rs756010427 0.00001
NM_005373.3(MPL):c.1566-8T>C rs1037232039 0.00001
NM_005373.3(MPL):c.1605G>T (p.Leu535=) rs371286903 0.00001
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548 0.00001
NM_005373.3(MPL):c.1731G>A (p.Arg577=) rs1297298234 0.00001
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413 0.00001
NM_005373.3(MPL):c.1773C>T (p.Tyr591=) rs752177268 0.00001
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.391+7G>A rs201738900 0.00001
NM_005373.3(MPL):c.468G>A (p.Glu156=) rs747175671 0.00001
NM_005373.3(MPL):c.513T>C (p.Tyr171=) rs971985422 0.00001
NM_005373.3(MPL):c.519C>T (p.Pro173=) rs1384608430 0.00001
NM_005373.3(MPL):c.534C>T (p.Asn178=) rs1473089822 0.00001
NM_005373.3(MPL):c.618G>C (p.Leu206=) rs1334230054 0.00001
NM_005373.3(MPL):c.750C>T (p.Asn250=) rs753703546 0.00001
NM_005373.3(MPL):c.795C>T (p.Leu265=) rs774771300 0.00001
NM_005373.3(MPL):c.840G>A (p.Leu280=) rs1313119276 0.00001
NM_005373.3(MPL):c.853+10C>A rs1341584081 0.00001
NM_005373.3(MPL):c.854-10T>C rs771241328 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005373.3(MPL):c.936A>G (p.Gln312=) rs1647022428 0.00001
NM_005373.3(MPL):c.972C>T (p.Pro324=) rs1010774862 0.00001
NM_005373.3(MPL):c.984C>T (p.Tyr328=) rs1174825503 0.00001
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_005476.7(GNE):c.1008T>C (p.Asp336=) rs762803815 0.00001
NM_005476.7(GNE):c.1017C>A (p.Thr339=) rs769534184 0.00001
NM_005476.7(GNE):c.1131C>T (p.Ile377=) rs764041731 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1287A>G (p.Glu429=) rs377382722 0.00001
NM_005476.7(GNE):c.1317T>C (p.Pro439=) rs773336897 0.00001
NM_005476.7(GNE):c.1411+7T>C rs1828696327 0.00001
NM_005476.7(GNE):c.1464A>G (p.Ser488=) rs771209350 0.00001
NM_005476.7(GNE):c.1633+7G>A rs773608353 0.00001
NM_005476.7(GNE):c.1633+8G>A rs1028353184 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1716G>A (p.Val572=) rs1294027346 0.00001
NM_005476.7(GNE):c.1806G>A (p.Lys602=) rs1248336263 0.00001
NM_005476.7(GNE):c.1812T>C (p.His604=) rs541458680 0.00001
NM_005476.7(GNE):c.1893G>A (p.Ala631=) rs770928991 0.00001
NM_005476.7(GNE):c.1933+7A>T rs368100600 0.00001
NM_005476.7(GNE):c.1933+8T>C rs768321445 0.00001
NM_005476.7(GNE):c.1998C>T (p.Ile666=) rs932366819 0.00001
NM_005476.7(GNE):c.2043C>T (p.Asp681=) rs568010488 0.00001
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567 0.00001
NM_005476.7(GNE):c.2073G>T (p.Val691=) rs760445653 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2082G>C (p.Val694=) rs771658438 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2119C>T (p.Leu707=) rs750554841 0.00001
NM_005476.7(GNE):c.2151A>G (p.Thr717=) rs760226053 0.00001
NM_005476.7(GNE):c.240T>C (p.Asp80=) rs780405231 0.00001
NM_005476.7(GNE):c.39T>C (p.Cys13=) rs776485443 0.00001
NM_005476.7(GNE):c.462T>A (p.Ala154=) rs778963689 0.00001
NM_005476.7(GNE):c.471T>C (p.His157=) rs757524235 0.00001
NM_005476.7(GNE):c.616+13G>C rs1383533734 0.00001
NM_005476.7(GNE):c.616+18T>C rs906334550 0.00001
NM_005476.7(GNE):c.616+7A>G rs761273110 0.00001
NM_005476.7(GNE):c.741C>T (p.Thr247=) rs770081028 0.00001
NM_005476.7(GNE):c.945G>A (p.Val315=) rs371362663 0.00001
NM_005476.7(GNE):c.975A>G (p.Arg325=) rs758966843 0.00001
NM_005476.7(GNE):c.999T>C (p.His333=) rs1344485866 0.00001
NM_014915.3(ANKRD26):c.2642A>G (p.Asn881Ser) rs926871139 0.00001
NM_015175.3(NBEAL2):c.*65A>G rs538014431 0.00001
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000174.5(GP9):c.-138-3C>G rs182464550
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
NM_000377.3(WAS):c.1086A>G (p.Pro362=) rs1304836055
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
NM_000377.3(WAS):c.132+14C>G
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
NM_000377.3(WAS):c.133-15G>A
NM_000377.3(WAS):c.133-19C>T
NM_000377.3(WAS):c.133-5C>T
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
NM_000377.3(WAS):c.1338+13A>G
NM_000377.3(WAS):c.1338+13A>T
NM_000377.3(WAS):c.1338+9A>C
NM_000377.3(WAS):c.1339-6C>G rs1207805593
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
NM_000377.3(WAS):c.135G>A (p.Thr45=)
NM_000377.3(WAS):c.135G>T (p.Thr45=)
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
NM_000377.3(WAS):c.136C>T (p.Leu46=)
NM_000377.3(WAS):c.138G>A (p.Leu46=)
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
NM_000377.3(WAS):c.1453+12C>T
NM_000377.3(WAS):c.1453+20G>C
NM_000377.3(WAS):c.1453+9A>C
NM_000377.3(WAS):c.1454-11T>C
NM_000377.3(WAS):c.1454-12C>A
NM_000377.3(WAS):c.1454-12C>T
NM_000377.3(WAS):c.1454-5T>C
NM_000377.3(WAS):c.1454-6C>T
NM_000377.3(WAS):c.1454-7C>T
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
NM_000377.3(WAS):c.150T>A (p.Val50=)
NM_000377.3(WAS):c.159G>A (p.Leu53=)
NM_000377.3(WAS):c.168G>A (p.Ala56=)
NM_000377.3(WAS):c.189C>T (p.His63=)
NM_000377.3(WAS):c.204T>C (p.His68=)
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.222C>T (p.Phe74=)
NM_000377.3(WAS):c.225G>A (p.Val75=)
NM_000377.3(WAS):c.243G>A (p.Lys81=)
NM_000377.3(WAS):c.273+11C>A
NM_000377.3(WAS):c.273+11C>G
NM_000377.3(WAS):c.273+11C>T
NM_000377.3(WAS):c.273+14C>G
NM_000377.3(WAS):c.273+17C>T
NM_000377.3(WAS):c.273+19A>G
NM_000377.3(WAS):c.273+6C>T
NM_000377.3(WAS):c.273+8_273+9insA
NM_000377.3(WAS):c.273+9C>T
NM_000377.3(WAS):c.273+9_273+11dup
NM_000377.3(WAS):c.274-20C>A
NM_000377.3(WAS):c.283C>T (p.Leu95=)
NM_000377.3(WAS):c.303G>A (p.Leu101=)
NM_000377.3(WAS):c.30C>A (p.Pro10=)
NM_000377.3(WAS):c.30C>G (p.Pro10=)
NM_000377.3(WAS):c.30C>T (p.Pro10=)
NM_000377.3(WAS):c.348C>G (p.Thr116=)
NM_000377.3(WAS):c.360+13C>T
NM_000377.3(WAS):c.361-10G>A
NM_000377.3(WAS):c.361-12A>G rs781885441
NM_000377.3(WAS):c.361-8A>T
NM_000377.3(WAS):c.369A>G (p.Gln123=)
NM_000377.3(WAS):c.372G>A (p.Ala124=)
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
NM_000377.3(WAS):c.396C>T (p.Asp132=)
NM_000377.3(WAS):c.405G>A (p.Gln135=)
NM_000377.3(WAS):c.438A>G (p.Gln146=)
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
NM_000377.3(WAS):c.463+10C>T
NM_000377.3(WAS):c.463+12A>G
NM_000377.3(WAS):c.464-13C>T
NM_000377.3(WAS):c.464-9T>C
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.505+10C>A
NM_000377.3(WAS):c.505+20T>C
NM_000377.3(WAS):c.506-10A>G
NM_000377.3(WAS):c.506-15A>G
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
NM_000377.3(WAS):c.519G>T (p.Gly173=)
NM_000377.3(WAS):c.51G>A (p.Ala17=)
NM_000377.3(WAS):c.51G>C (p.Ala17=)
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
NM_000377.3(WAS):c.540T>C (p.His180=)
NM_000377.3(WAS):c.559+14_559+32del rs782477646
NM_000377.3(WAS):c.559+6_559+13dup
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.560-6C>T
NM_000377.3(WAS):c.570G>A (p.Val190=)
NM_000377.3(WAS):c.579C>T (p.Leu193=)
NM_000377.3(WAS):c.585G>T (p.Leu195=)
NM_000377.3(WAS):c.588G>C (p.Gly196=)
NM_000377.3(WAS):c.603C>T (p.Asp201=) rs2062421636
NM_000377.3(WAS):c.624G>A (p.Thr208=) rs2147264874
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
NM_000377.3(WAS):c.642G>C (p.Gly214=)
NM_000377.3(WAS):c.663C>T (p.Ser221=)
NM_000377.3(WAS):c.669T>G (p.Ala223=) rs928562174
NM_000377.3(WAS):c.675G>A (p.Lys225=)
NM_000377.3(WAS):c.690G>A (p.Lys230=)
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
NM_000377.3(WAS):c.735-10C>A
NM_000377.3(WAS):c.735-16_735-15insGT
NM_000377.3(WAS):c.735-5C>T
NM_000377.3(WAS):c.744C>T (p.Ser248=)
NM_000377.3(WAS):c.747C>T (p.His249=)
NM_000377.3(WAS):c.75C>T (p.Thr25=)
NM_000377.3(WAS):c.768T>C (p.Asn256=) rs2147265705
NM_000377.3(WAS):c.777+11T>A
NM_000377.3(WAS):c.777+12del
NM_000377.3(WAS):c.777+17T>C
NM_000377.3(WAS):c.778-11C>T
NM_000377.3(WAS):c.778-14T>C
NM_000377.3(WAS):c.778-8C>T
NM_000377.3(WAS):c.780G>A (p.Val260=) rs2147265866
NM_000377.3(WAS):c.789C>T (p.Leu263=)
NM_000377.3(WAS):c.795A>C (p.Pro265=)
NM_000377.3(WAS):c.810G>T (p.Leu270=)
NM_000377.3(WAS):c.819G>A (p.Arg273=)
NM_000377.3(WAS):c.831C>T (p.Ser277=)
NM_000377.3(WAS):c.834G>A (p.Glu278=)
NM_000377.3(WAS):c.846C>T (p.Thr282=)
NM_000377.3(WAS):c.852C>G (p.Ala284=)
NM_000377.3(WAS):c.858C>T (p.Thr286=) rs2147266003
NM_000377.3(WAS):c.931+10T>A
NM_000377.3(WAS):c.931+14T>C
NM_000377.3(WAS):c.931+15C>T
NM_000377.3(WAS):c.931+19A>C
NM_000377.3(WAS):c.931+20C>T
NM_000377.3(WAS):c.931+7C>A
NM_000377.3(WAS):c.932-12C>A
NM_000377.3(WAS):c.932-12C>T
NM_000377.3(WAS):c.932-15A>G
NM_000377.3(WAS):c.932-18_932-17del
NM_000377.3(WAS):c.932-5C>T
NM_000377.3(WAS):c.932-9C>A
NM_000377.3(WAS):c.932-9_932-8dup
NM_000377.3(WAS):c.942G>A (p.Pro314=)
NM_000377.3(WAS):c.987C>T (p.Pro329=)
NM_000377.3(WAS):c.996G>C (p.Val332=)
NM_000377.3(WAS):c.996G>T (p.Val332=)
NM_000377.3(WAS):c.999G>C (p.Gly333=)
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=)
NM_000419.5(ITGA2B):c.1210+19C>T
NM_000419.5(ITGA2B):c.1210+9del
NM_000419.5(ITGA2B):c.1211-10C>T
NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)
NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=)
NM_000419.5(ITGA2B):c.1439+20G>A
NM_000419.5(ITGA2B):c.1440-20C>G
NM_000419.5(ITGA2B):c.1544+18A>G
NM_000419.5(ITGA2B):c.1545-17C>A
NM_000419.5(ITGA2B):c.1600+15G>T
NM_000419.5(ITGA2B):c.1601-14G>C
NM_000419.5(ITGA2B):c.1627C>A (p.Arg543=)
NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)
NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=)
NM_000419.5(ITGA2B):c.1707C>T (p.Gly569=)
NM_000419.5(ITGA2B):c.1716C>T (p.His572=)
NM_000419.5(ITGA2B):c.1752+11G>A
NM_000419.5(ITGA2B):c.1752+4C>T
NM_000419.5(ITGA2B):c.1753-8del
NM_000419.5(ITGA2B):c.1770G>A (p.Arg590=)
NM_000419.5(ITGA2B):c.1878+17A>G
NM_000419.5(ITGA2B):c.1879-31_1879-14dup
NM_000419.5(ITGA2B):c.1879-5del
NM_000419.5(ITGA2B):c.1879-8C>T
NM_000419.5(ITGA2B):c.188+12G>A
NM_000419.5(ITGA2B):c.188+17G>A
NM_000419.5(ITGA2B):c.188+18T>C
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8G>C
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.189-7T>A
NM_000419.5(ITGA2B):c.1923C>T (p.Pro641=)
NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=)
NM_000419.5(ITGA2B):c.1947-12_1947-11del
NM_000419.5(ITGA2B):c.2001C>T (p.Asp667=)
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)
NM_000419.5(ITGA2B):c.2061C>T (p.Gly687=)
NM_000419.5(ITGA2B):c.2064C>T (p.Ala688=)
NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)
NM_000419.5(ITGA2B):c.2094+7C>T
NM_000419.5(ITGA2B):c.2095-8T>C
NM_000419.5(ITGA2B):c.2139C>T (p.Thr713=) rs1598378000
NM_000419.5(ITGA2B):c.2187+20G>C
NM_000419.5(ITGA2B):c.2188-7C>T
NM_000419.5(ITGA2B):c.2199G>A (p.Ala733=)
NM_000419.5(ITGA2B):c.2348+14G>A
NM_000419.5(ITGA2B):c.2348+17G>T
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)
NM_000419.5(ITGA2B):c.2448+16G>A
NM_000419.5(ITGA2B):c.2448+17C>T
NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)
NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=)
NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)
NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)
NM_000419.5(ITGA2B):c.2602-17C>G
NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)
NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)
NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=)
NM_000419.5(ITGA2B):c.2685A>G (p.Pro895=)
NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)
NM_000419.5(ITGA2B):c.2727+14C>G
NM_000419.5(ITGA2B):c.2727+19C>T
NM_000419.5(ITGA2B):c.2728-12G>T
NM_000419.5(ITGA2B):c.2728-16C>G
NM_000419.5(ITGA2B):c.2728-20C>T
NM_000419.5(ITGA2B):c.2742G>A (p.Ala914=)
NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)
NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)
NM_000419.5(ITGA2B):c.2841+1GTGGG[3]
NM_000419.5(ITGA2B):c.2943+11G>A
NM_000419.5(ITGA2B):c.2943+9G>A
NM_000419.5(ITGA2B):c.2944-17C>T
NM_000419.5(ITGA2B):c.2944-7C>T
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2979G>A (p.Arg993=)
NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)
NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)
NM_000419.5(ITGA2B):c.3060+16C>T
NM_000419.5(ITGA2B):c.3060+17G>A
NM_000419.5(ITGA2B):c.3061-13C>T
NM_000419.5(ITGA2B):c.3061-5C>T
NM_000419.5(ITGA2B):c.30C>T (p.Ala10=)
NM_000419.5(ITGA2B):c.310+12G>A
NM_000419.5(ITGA2B):c.310+17G>A
NM_000419.5(ITGA2B):c.351C>T (p.Thr117=)
NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)
NM_000419.5(ITGA2B):c.408+11C>T
NM_000419.5(ITGA2B):c.408+7C>T
NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)
NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)
NM_000419.5(ITGA2B):c.574+15C>T
NM_000419.5(ITGA2B):c.574+20T>C
NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)
NM_000419.5(ITGA2B):c.670+15G>T
NM_000419.5(ITGA2B):c.671-10C>G
NM_000419.5(ITGA2B):c.730T>C (p.Leu244=)
NM_000419.5(ITGA2B):c.786C>T (p.Phe262=)
NM_000419.5(ITGA2B):c.799+20C>T
NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=)
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.891+14C>G
NM_000419.5(ITGA2B):c.891+16A>C
NM_000419.5(ITGA2B):c.892-13G>A
NM_000419.5(ITGA2B):c.892-20C>T
NM_000419.5(ITGA2B):c.946-12C>T
NM_000419.5(ITGA2B):c.966T>C (p.His322=)
NM_000419.5(ITGA2B):c.978C>T (p.Val326=)
NM_000419.5(ITGA2B):c.998+15G>T
NM_000419.5(ITGA2B):c.998+19C>T
NM_000419.5(ITGA2B):c.998+8G>C
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_001001548.3(CD36):c.701_701+3dup rs1554343345
NM_001128227.3(GNE):c.18T>C (p.Tyr6=) rs200763627
NM_001128227.3(GNE):c.24G>A (p.Gln8=) rs190315029
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
NM_001128227.3(GNE):c.30G>A (p.Glu10=) rs780649483
NM_001128227.3(GNE):c.39T>C (p.Phe13=) rs2133208583
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
NM_001128227.3(GNE):c.51+10T>G rs2133208536
NM_001128227.3(GNE):c.51+11C>T
NM_001128227.3(GNE):c.51+12G>C
NM_001128227.3(GNE):c.51+9T>C rs2133208540
NM_001128227.3(GNE):c.57C>G (p.Leu19=) rs1830028025
NM_001128227.3(GNE):c.60T>C (p.Tyr20=) rs2133126743
NM_001128227.3(GNE):c.69C>T (p.Asn23=) rs1158058299
NM_001128227.3(GNE):c.72C>G (p.Leu24=) rs1191809976
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)
NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)
NM_001382567.1(STIM1):c.1003C>T (p.Leu335=) rs202060449
NM_001382567.1(STIM1):c.108G>C (p.Ser36=) rs551284324
NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)
NM_001382567.1(STIM1):c.1119G>T (p.Leu373=)
NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)
NM_001382567.1(STIM1):c.1137+11C>G
NM_001382567.1(STIM1):c.1137+13C>T rs199507032
NM_001382567.1(STIM1):c.1137+14T>G
NM_001382567.1(STIM1):c.1137+18A>G
NM_001382567.1(STIM1):c.1138-11C>T rs2094472695
NM_001382567.1(STIM1):c.1138-14C>A
NM_001382567.1(STIM1):c.1138-15dup
NM_001382567.1(STIM1):c.1138-16G>A rs2133223879
NM_001382567.1(STIM1):c.1138-4G>A rs1229330873
NM_001382567.1(STIM1):c.1138-8C>T rs750360122
NM_001382567.1(STIM1):c.1203C>G (p.Ser401=) rs2133224307
NM_001382567.1(STIM1):c.1221T>C (p.His407=) rs2133224417
NM_001382567.1(STIM1):c.1230A>G (p.Leu410=) rs200232554
NM_001382567.1(STIM1):c.1239-10_1239-9del
NM_001382567.1(STIM1):c.1239-17C>G rs2094474498
NM_001382567.1(STIM1):c.1239-20T>A rs2133225683
NM_001382567.1(STIM1):c.1239-4del rs2133225817
NM_001382567.1(STIM1):c.1239-6C>T rs2133225807
NM_001382567.1(STIM1):c.1239-8G>A
NM_001382567.1(STIM1):c.1246C>T (p.Leu416=) rs1198313077
NM_001382567.1(STIM1):c.1272G>A (p.Arg424=) rs2133225953
NM_001382567.1(STIM1):c.129C>T (p.Ser43=)
NM_001382567.1(STIM1):c.1347A>C (p.Ser449=) rs765057580
NM_001382567.1(STIM1):c.139+13T>A rs2135171514
NM_001382567.1(STIM1):c.139+7C>A rs2090371877
NM_001382567.1(STIM1):c.140-16T>G
NM_001382567.1(STIM1):c.140-5C>T
NM_001382567.1(STIM1):c.140-9C>T
NM_001382567.1(STIM1):c.1428C>T (p.Asp476=) rs776633274
NM_001382567.1(STIM1):c.1461C>G (p.Pro487=) rs751169800
NM_001382567.1(STIM1):c.1461C>T (p.Pro487=) rs751169800
NM_001382567.1(STIM1):c.1474+17C>T
NM_001382567.1(STIM1):c.1474+17del
NM_001382567.1(STIM1):c.1474+20G>A
NM_001382567.1(STIM1):c.1568-10C>T
NM_001382567.1(STIM1):c.1568-12T>C rs2133240089
NM_001382567.1(STIM1):c.1568-13A>T
NM_001382567.1(STIM1):c.1568-7C>G rs1234433480
NM_001382567.1(STIM1):c.1581G>A (p.Gln527=)
NM_001382567.1(STIM1):c.1593G>A (p.Arg531=) rs765806444
NM_001382567.1(STIM1):c.15C>T (p.Val5=)
NM_001382567.1(STIM1):c.1605G>A (p.Thr535=)
NM_001382567.1(STIM1):c.1620C>G (p.Gly540=)
NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)
NM_001382567.1(STIM1):c.1634+13C>A
NM_001382567.1(STIM1):c.1635-20C>G
NM_001382567.1(STIM1):c.1650C>T (p.Ser550=)
NM_001382567.1(STIM1):c.1722T>C (p.Ala574=) rs1007050130
NM_001382567.1(STIM1):c.1737C>A (p.Leu579=) rs2133263867
NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)
NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)
NM_001382567.1(STIM1):c.1779G>A (p.Gly593=)
NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)
NM_001382567.1(STIM1):c.1785C>T (p.His595=) rs1590703370
NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)
NM_001382567.1(STIM1):c.1809G>A (p.Leu603=)
NM_001382567.1(STIM1):c.1812T>C (p.Pro604=) rs200693717
NM_001382567.1(STIM1):c.1827G>C (p.Leu609=)
NM_001382567.1(STIM1):c.1872C>T (p.Ala624=)
NM_001382567.1(STIM1):c.1879C>T (p.Leu627=)
NM_001382567.1(STIM1):c.1899A>G (p.Ser633=)
NM_001382567.1(STIM1):c.192C>T (p.Ser64=) rs200345567
NM_001382567.1(STIM1):c.1947C>T (p.Ser649=) rs1590703531
NM_001382567.1(STIM1):c.195C>T (p.Phe65=)
NM_001382567.1(STIM1):c.1980A>G (p.Pro660=)
NM_001382567.1(STIM1):c.1999C>T (p.Leu667=)
NM_001382567.1(STIM1):c.2013A>G (p.Arg671=)
NM_001382567.1(STIM1):c.2049T>C (p.Ala683=)
NM_001382567.1(STIM1):c.2064T>C (p.Asp688=)
NM_001382567.1(STIM1):c.2079C>T (p.Gly693=) rs147912041
NM_001382567.1(STIM1):c.2100A>G (p.Pro700=) rs754273677
NM_001382567.1(STIM1):c.2130T>C (p.Phe710=) rs1554972256
NM_001382567.1(STIM1):c.2142T>A (p.Leu714=) rs199935070
NM_001382567.1(STIM1):c.240T>C (p.Asn80=)
NM_001382567.1(STIM1):c.246T>C (p.Asp82=)
NM_001382567.1(STIM1):c.270+11C>T
NM_001382567.1(STIM1):c.270+12C>T
NM_001382567.1(STIM1):c.270+19C>T
NM_001382567.1(STIM1):c.271-11T>C
NM_001382567.1(STIM1):c.271-19G>C
NM_001382567.1(STIM1):c.271-3034_271-3023del
NM_001382567.1(STIM1):c.297T>C (p.His99=)
NM_001382567.1(STIM1):c.333G>A (p.Glu111=)
NM_001382567.1(STIM1):c.339G>A (p.Lys113=)
NM_001382567.1(STIM1):c.342C>T (p.Leu114=)
NM_001382567.1(STIM1):c.345C>T (p.Ile115=) rs770736310
NM_001382567.1(STIM1):c.354G>A (p.Glu118=)
NM_001382567.1(STIM1):c.360G>A (p.Leu120=)
NM_001382567.1(STIM1):c.375G>A (p.Lys125=)
NM_001382567.1(STIM1):c.381A>G (p.Ser127=)
NM_001382567.1(STIM1):c.385+20T>G rs2136019322
NM_001382567.1(STIM1):c.385+7G>T
NM_001382567.1(STIM1):c.386-17C>G
NM_001382567.1(STIM1):c.386-18G>T
NM_001382567.1(STIM1):c.408G>A (p.Glu136=) rs200648767
NM_001382567.1(STIM1):c.438G>A (p.Glu146=)
NM_001382567.1(STIM1):c.469C>T (p.Leu157=) rs1554968984
NM_001382567.1(STIM1):c.495A>C (p.Pro165=)
NM_001382567.1(STIM1):c.497+16G>A
NM_001382567.1(STIM1):c.497+17G>A rs200086415
NM_001382567.1(STIM1):c.497+17G>T
NM_001382567.1(STIM1):c.498-14C>G
NM_001382567.1(STIM1):c.498-15T>C
NM_001382567.1(STIM1):c.498-16C>G
NM_001382567.1(STIM1):c.498-18T>A
NM_001382567.1(STIM1):c.498-6C>T
NM_001382567.1(STIM1):c.513C>T (p.Asn171=) rs2133104522
NM_001382567.1(STIM1):c.516C>G (p.Thr172=) rs2133104553
NM_001382567.1(STIM1):c.519C>A (p.Thr173=) rs768915274
NM_001382567.1(STIM1):c.537G>A (p.Leu179=)
NM_001382567.1(STIM1):c.546A>C (p.Thr182=) rs2133104739
NM_001382567.1(STIM1):c.549C>T (p.Asp183=) rs1590681707
NM_001382567.1(STIM1):c.54C>T (p.His18=) rs2135170406
NM_001382567.1(STIM1):c.614-11CT[2]
NM_001382567.1(STIM1):c.614-20T>C
NM_001382567.1(STIM1):c.614-20T>G
NM_001382567.1(STIM1):c.614-4G>T rs2133161164
NM_001382567.1(STIM1):c.630C>T (p.His210=) rs199743104
NM_001382567.1(STIM1):c.660C>A (p.Ile220=) rs200982503
NM_001382567.1(STIM1):c.693T>C (p.Tyr231=)
NM_001382567.1(STIM1):c.699G>A (p.Gln233=)
NM_001382567.1(STIM1):c.69C>T (p.Leu23=) rs779453226
NM_001382567.1(STIM1):c.702C>T (p.Asn234=)
NM_001382567.1(STIM1):c.729G>A (p.Lys243=)
NM_001382567.1(STIM1):c.750G>T (p.Gly250=)
NM_001382567.1(STIM1):c.791+15T>G
NM_001382567.1(STIM1):c.792-3dup rs764247879
NM_001382567.1(STIM1):c.792-4C>A rs200996329
NM_001382567.1(STIM1):c.792-4C>G rs200996329
NM_001382567.1(STIM1):c.792-4C>T rs200996329
NM_001382567.1(STIM1):c.792-8C>A rs201395930
NM_001382567.1(STIM1):c.792-9C>A rs200264068
NM_001382567.1(STIM1):c.792-9C>T
NM_001382567.1(STIM1):c.801G>A (p.Lys267=)
NM_001382567.1(STIM1):c.831G>T (p.Val277=)
NM_001382567.1(STIM1):c.840C>G (p.Val280=) rs2133185849
NM_001382567.1(STIM1):c.843T>C (p.His281=) rs760049621
NM_001382567.1(STIM1):c.846G>C (p.Leu282=)
NM_001382567.1(STIM1):c.870C>T (p.Ile290=)
NM_001382567.1(STIM1):c.921T>C (p.Thr307=) rs2133186424
NM_001382567.1(STIM1):c.954G>A (p.Glu318=)
NM_001382567.1(STIM1):c.969+7G>T
NM_001382567.1(STIM1):c.969+9G>A
NM_001382567.1(STIM1):c.970-19C>T
NM_001382567.1(STIM1):c.970-6G>T
NM_001382567.1(STIM1):c.982T>C (p.Leu328=) rs2133220776
NM_001987.5(ETV6):c.119C>T (p.Ala40Val)
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*1818_*1819insTTGGC rs543100435
NM_002203.4(ITGA2):c.*236del rs3212647
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*3308_*3310del rs139102895
NM_002203.4(ITGA2):c.*4006_*4010del rs528320695
NM_002203.4(ITGA2):c.*4045_*4051del rs143236463
NM_002203.4(ITGA2):c.*95dup rs202180218
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln) rs1464713086
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro) rs201299522
NM_004531.5(MOCS2):c.*44A>C rs367775935
NM_005105.5(RBM8A):c.127+19G>A
NM_005105.5(RBM8A):c.128-17G>C
NM_005105.5(RBM8A):c.128-7C>T rs190827695
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
NM_005105.5(RBM8A):c.206-14C>G
NM_005105.5(RBM8A):c.206-18C>G
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
NM_005105.5(RBM8A):c.342+8_342+11del
NM_005105.5(RBM8A):c.343-13T>C
NM_005105.5(RBM8A):c.343-17C>T
NM_005105.5(RBM8A):c.343-19G>C
NM_005105.5(RBM8A):c.345G>A (p.Gly115=)
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
NM_005105.5(RBM8A):c.479+12A>G
NM_005105.5(RBM8A):c.480-5C>T
NM_005105.5(RBM8A):c.480-8T>G
NM_005105.5(RBM8A):c.67+11T>C
NM_005105.5(RBM8A):c.67+13G>A
NM_005105.5(RBM8A):c.67+17C>T
NM_005105.5(RBM8A):c.68-15C>T
NM_005105.5(RBM8A):c.68-18T>C
NM_005105.5(RBM8A):c.68-4C>T rs782317229
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)
NM_005373.3(MPL):c.*1126A>G rs543250497
NM_005373.3(MPL):c.1011A>G (p.Glu337=) rs1318577614
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
NM_005373.3(MPL):c.1023T>C (p.Asn341=) rs554597610
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
NM_005373.3(MPL):c.105A>G (p.Ser35=) rs2153916223
NM_005373.3(MPL):c.1116G>A (p.Pro372=) rs781733134
NM_005373.3(MPL):c.1119T>G (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1143C>T (p.Ser381=) rs2153918638
NM_005373.3(MPL):c.1158C>T (p.His386=)
NM_005373.3(MPL):c.1165+12C>A
NM_005373.3(MPL):c.1165+18_1165+27dup
NM_005373.3(MPL):c.1165+18del
NM_005373.3(MPL):c.1166-13G>A
NM_005373.3(MPL):c.1166-14T>C
NM_005373.3(MPL):c.1166-5T>C
NM_005373.3(MPL):c.1166-6C>T rs1647059033
NM_005373.3(MPL):c.1166-9T>C
NM_005373.3(MPL):c.1167G>A (p.Val389=) rs2153918731
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
NM_005373.3(MPL):c.1200G>A (p.Glu400=) rs2153918759
NM_005373.3(MPL):c.1215T>C (p.His405=) rs2153918763
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=) rs544064034
NM_005373.3(MPL):c.1245C>A (p.Ser415=) rs1002584503
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
NM_005373.3(MPL):c.1254C>G (p.Ala418=) rs1344383290
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
NM_005373.3(MPL):c.1272A>G (p.Gln424=) rs1647060081
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
NM_005373.3(MPL):c.1308+12C>T
NM_005373.3(MPL):c.1308+8C>A rs376365109
NM_005373.3(MPL):c.1308+8C>G rs376365109
NM_005373.3(MPL):c.1309-18G>A
NM_005373.3(MPL):c.1309-18G>T
NM_005373.3(MPL):c.1309-19C>T
NM_005373.3(MPL):c.1309-3dup
NM_005373.3(MPL):c.1309-6G>A rs2153919199
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
NM_005373.3(MPL):c.1320G>C (p.Pro440=) rs2153919217
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
NM_005373.3(MPL):c.1338A>G (p.Gly446=) rs530475779
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
NM_005373.3(MPL):c.1345C>T (p.Leu449=) rs2153919239
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
NM_005373.3(MPL):c.1356C>T (p.Arg452=) rs1647073349
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
NM_005373.3(MPL):c.1371C>T (p.Tyr457=) rs2153919254
NM_005373.3(MPL):c.1381C>T (p.Leu461=) rs2153919261
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=) rs2153919286
NM_005373.3(MPL):c.1407C>T (p.Thr469=) rs2153919290
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
NM_005373.3(MPL):c.1428G>T (p.Ser476=) rs2153919294
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
NM_005373.3(MPL):c.1434G>C (p.Ser478=) rs916392437
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
NM_005373.3(MPL):c.1468+10G>A rs2153919323
NM_005373.3(MPL):c.1468+10G>T
NM_005373.3(MPL):c.1468+11C>A
NM_005373.3(MPL):c.1468+14C>G
NM_005373.3(MPL):c.1468+14C>T
NM_005373.3(MPL):c.1468+6dup
NM_005373.3(MPL):c.1468+7C>A
NM_005373.3(MPL):c.1468+7C>G rs1360335718
NM_005373.3(MPL):c.1468+9A>G
NM_005373.3(MPL):c.1469-16C>T
NM_005373.3(MPL):c.1469-17C>A
NM_005373.3(MPL):c.1469-17C>T
NM_005373.3(MPL):c.1469-7C>G rs202232618
NM_005373.3(MPL):c.147T>C (p.Thr49=)
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
NM_005373.3(MPL):c.150C>T (p.Cys50=)
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
NM_005373.3(MPL):c.1563C>T (p.Tyr521=) rs1392072769
NM_005373.3(MPL):c.1565+11C>T
NM_005373.3(MPL):c.1565+12G>A
NM_005373.3(MPL):c.1565+12G>C
NM_005373.3(MPL):c.1565+18C>A
NM_005373.3(MPL):c.1565+19dup
NM_005373.3(MPL):c.1566-14T>C
NM_005373.3(MPL):c.1566-15T>C
NM_005373.3(MPL):c.1566-16C>T
NM_005373.3(MPL):c.1566-19T>C
NM_005373.3(MPL):c.1566-6C>T
NM_005373.3(MPL):c.1566-7C>T rs375344403
NM_005373.3(MPL):c.1572G>C (p.Leu524=) rs2153919916
NM_005373.3(MPL):c.1584G>A (p.Leu528=) rs1380383088
NM_005373.3(MPL):c.159T>C (p.Asp53=)
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
NM_005373.3(MPL):c.162G>A (p.Glu54=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=) rs374221815
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
NM_005373.3(MPL):c.1653+10C>T rs2153919956
NM_005373.3(MPL):c.1653+13C>T
NM_005373.3(MPL):c.1653+20_1653+21del
NM_005373.3(MPL):c.1653+7G>A rs2153919952
NM_005373.3(MPL):c.1654-11A>G
NM_005373.3(MPL):c.1654-20C>T
NM_005373.3(MPL):c.1654-5C>A rs1020318873
NM_005373.3(MPL):c.1654-5C>T rs1020318873
NM_005373.3(MPL):c.1654-9C>T rs2153920018
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
NM_005373.3(MPL):c.1683A>G (p.Glu561=) rs202022473
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
NM_005373.3(MPL):c.1719G>A (p.Lys573=) rs774393112
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
NM_005373.3(MPL):c.1761C>T (p.Ala587=) rs1647101111
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=) rs374553815
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
NM_005373.3(MPL):c.1818G>A (p.Val606=) rs2153920103
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
NM_005373.3(MPL):c.1857C>T (p.Thr619=) rs2153920125
NM_005373.3(MPL):c.1860C>T (p.His620=)
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
NM_005373.3(MPL):c.192G>A (p.Gln64=)
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.198G>A (p.Leu66=) rs1647007308
NM_005373.3(MPL):c.207C>T (p.Tyr69=) rs2153916283
NM_005373.3(MPL):c.212+10G>A
NM_005373.3(MPL):c.212+17G>A
NM_005373.3(MPL):c.212+17G>T
NM_005373.3(MPL):c.212+8C>T
NM_005373.3(MPL):c.213-12C>T
NM_005373.3(MPL):c.213-20G>C
NM_005373.3(MPL):c.213-6C>T rs1647009547
NM_005373.3(MPL):c.213-7C>T rs2153916416
NM_005373.3(MPL):c.219G>A (p.Lys73=)
NM_005373.3(MPL):c.234C>G (p.Pro78=)
NM_005373.3(MPL):c.234C>T (p.Pro78=)
NM_005373.3(MPL):c.255C>T (p.Pro85=) rs1557463066
NM_005373.3(MPL):c.264A>T (p.Gly88=)
NM_005373.3(MPL):c.279C>T (p.Cys93=) rs2153916471
NM_005373.3(MPL):c.27C>T (p.Val9=) rs1343948119
NM_005373.3(MPL):c.306T>A (p.Arg102=) rs140354935
NM_005373.3(MPL):c.306T>C (p.Arg102=)
NM_005373.3(MPL):c.309C>A (p.Leu103=)
NM_005373.3(MPL):c.315T>C (p.Phe105=) rs2153916507
NM_005373.3(MPL):c.333G>A (p.Val111=) rs1570464811
NM_005373.3(MPL):c.339T>C (p.Asn113=)
NM_005373.3(MPL):c.366G>A (p.Gln122=)
NM_005373.3(MPL):c.367C>A (p.Arg123=)
NM_005373.3(MPL):c.391+13C>T
NM_005373.3(MPL):c.391+18G>A
NM_005373.3(MPL):c.391+19T>C
NM_005373.3(MPL):c.391+19T>G
NM_005373.3(MPL):c.392-13G>C
NM_005373.3(MPL):c.392-15_392-14del
NM_005373.3(MPL):c.392-16C>T
NM_005373.3(MPL):c.392-20G>A
NM_005373.3(MPL):c.392-8G>C
NM_005373.3(MPL):c.392-8G>T
NM_005373.3(MPL):c.392-9T>C rs2153916670
NM_005373.3(MPL):c.399G>A (p.Pro133=) rs768283382
NM_005373.3(MPL):c.402T>C (p.Ala134=)
NM_005373.3(MPL):c.408C>A (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.420G>A (p.Lys140=) rs2153916692
NM_005373.3(MPL):c.423C>T (p.Ala141=) rs2153916694
NM_005373.3(MPL):c.42C>T (p.Leu14=) rs2153916109
NM_005373.3(MPL):c.432G>A (p.Gly144=)
NM_005373.3(MPL):c.432G>C (p.Gly144=) rs2153916702
NM_005373.3(MPL):c.444G>T (p.Gly148=)
NM_005373.3(MPL):c.447A>G (p.Glu149=) rs2153916718
NM_005373.3(MPL):c.459C>T (p.Ser153=)
NM_005373.3(MPL):c.465G>A (p.Glu155=)
NM_005373.3(MPL):c.492C>T (p.Phe164=) rs1343497787
NM_005373.3(MPL):c.493C>T (p.Leu165=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=) rs1647014738
NM_005373.3(MPL):c.51T>G (p.Pro17=) rs2153916114
NM_005373.3(MPL):c.525T>C (p.Asp175=)
NM_005373.3(MPL):c.531G>A (p.Lys177=) rs2153916772
NM_005373.3(MPL):c.540T>C (p.Thr180=) rs2153916776
NM_005373.3(MPL):c.549G>T (p.Thr183=)
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.567C>T (p.Ala189=)
NM_005373.3(MPL):c.576C>T (p.Thr192=) rs2153916800
NM_005373.3(MPL):c.579C>T (p.Cys193=) rs747962998
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
NM_005373.3(MPL):c.585T>C (p.Pro195=)
NM_005373.3(MPL):c.639G>A (p.Gln213=)
NM_005373.3(MPL):c.663A>G (p.Gly221=) rs1647016206
NM_005373.3(MPL):c.669G>A (p.Lys223=)
NM_005373.3(MPL):c.684T>C (p.Ser228=) rs766536759
NM_005373.3(MPL):c.690+10C>G rs1160632727
NM_005373.3(MPL):c.690+15T>C
NM_005373.3(MPL):c.690+19G>A
NM_005373.3(MPL):c.690+20C>T
NM_005373.3(MPL):c.690+7T>C
NM_005373.3(MPL):c.690+8_690+12dup
NM_005373.3(MPL):c.691-12T>A
NM_005373.3(MPL):c.691-16G>C
NM_005373.3(MPL):c.691-17G>A
NM_005373.3(MPL):c.691-4C>T
NM_005373.3(MPL):c.691-7T>C
NM_005373.3(MPL):c.696A>G (p.Ser232=)
NM_005373.3(MPL):c.696A>T (p.Ser232=) rs767614158
NM_005373.3(MPL):c.69C>A (p.Val23=) rs2153916126
NM_005373.3(MPL):c.6C>T (p.Pro2=) rs2153916091
NM_005373.3(MPL):c.723C>T (p.Cys241=) rs2153917030
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.783T>C (p.Asp261=) rs749648068
NM_005373.3(MPL):c.79+10A>C
NM_005373.3(MPL):c.79+15G>A
NM_005373.3(MPL):c.79+15G>C
NM_005373.3(MPL):c.79+16G>T
NM_005373.3(MPL):c.79+17G>A
NM_005373.3(MPL):c.79+17G>T
NM_005373.3(MPL):c.79+18T>C
NM_005373.3(MPL):c.79+19G>A
NM_005373.3(MPL):c.79+20G>A
NM_005373.3(MPL):c.79+7T>C rs2153916135
NM_005373.3(MPL):c.79+8G>C
NM_005373.3(MPL):c.79+9C>G
NM_005373.3(MPL):c.79+9C>T
NM_005373.3(MPL):c.80-11C>A
NM_005373.3(MPL):c.80-15C>T
NM_005373.3(MPL):c.80-17C>T
NM_005373.3(MPL):c.80-19C>T
NM_005373.3(MPL):c.80-7T>C rs2153916207
NM_005373.3(MPL):c.80-9G>T rs2153916206
NM_005373.3(MPL):c.837C>T (p.Asp279=)
NM_005373.3(MPL):c.853+10C>G
NM_005373.3(MPL):c.853+10C>T
NM_005373.3(MPL):c.853+10del
NM_005373.3(MPL):c.853+15G>A
NM_005373.3(MPL):c.853+18T>C
NM_005373.3(MPL):c.853+18T>G
NM_005373.3(MPL):c.853+18del
NM_005373.3(MPL):c.853+7C>A rs2153917115
NM_005373.3(MPL):c.854-14T>C
NM_005373.3(MPL):c.854-15C>T
NM_005373.3(MPL):c.870A>G (p.Gln290=)
NM_005373.3(MPL):c.876T>C (p.Phe292=)
NM_005373.3(MPL):c.879C>G (p.Thr293=)
NM_005373.3(MPL):c.921C>T (p.Asp307=) rs764243911
NM_005373.3(MPL):c.933C>T (p.Ser311=) rs2153917221
NM_005373.3(MPL):c.939C>G (p.Gly313=)
NM_005373.3(MPL):c.957G>A (p.Arg319=)
NM_005373.3(MPL):c.963G>C (p.Arg321=)
NM_005373.3(MPL):c.96A>C (p.Ala32=)
NM_005373.3(MPL):c.96A>G (p.Ala32=) rs1647006420
NM_005373.3(MPL):c.980+14T>C
NM_005373.3(MPL):c.980+16C>T
NM_005373.3(MPL):c.981-11C>T
NM_005373.3(MPL):c.987C>A (p.Pro329=) rs144491350
NM_005373.3(MPL):c.987C>G (p.Pro329=)
NM_005373.3(MPL):c.999C>T (p.Asn333=) rs1053884539
NM_005373.3(MPL):c.9C>G (p.Ser3=)
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.-42-6T>C
NM_005476.7(GNE):c.1017C>T (p.Thr339=) rs769534184
NM_005476.7(GNE):c.1023C>T (p.Asp341=) rs768446059
NM_005476.7(GNE):c.102C>A (p.Thr34=)
NM_005476.7(GNE):c.102C>T (p.Thr34=) rs147290887
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
NM_005476.7(GNE):c.1039C>T (p.Leu347=) rs2133049484
NM_005476.7(GNE):c.105A>G (p.Glu35=) rs2133126073
NM_005476.7(GNE):c.1071-11del
NM_005476.7(GNE):c.1071-4G>T rs567349676
NM_005476.7(GNE):c.1071-6T>C
NM_005476.7(GNE):c.1111T>C (p.Leu371=) rs1305905839
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
NM_005476.7(GNE):c.111G>A (p.Glu37=)
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
NM_005476.7(GNE):c.1146A>T (p.Pro382=) rs2133041945
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
NM_005476.7(GNE):c.1200T>C (p.Ile400=) rs1173945551
NM_005476.7(GNE):c.1227C>G (p.Ala409=) rs1828914515
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1236T>G (p.Val412=) rs1587294795
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1266A>C (p.Ala422=) rs2133041296
NM_005476.7(GNE):c.1269A>T (p.Ile423=) rs1261239311
NM_005476.7(GNE):c.1281+10C>T
NM_005476.7(GNE):c.1281+11T>G
NM_005476.7(GNE):c.1281+11del
NM_005476.7(GNE):c.1281+13C>T
NM_005476.7(GNE):c.1281+15A>G
NM_005476.7(GNE):c.1281+18C>A
NM_005476.7(GNE):c.1281+18C>T
NM_005476.7(GNE):c.1281+8A>G
NM_005476.7(GNE):c.1282-14G>A
NM_005476.7(GNE):c.1282-14_1282-12del
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18T>C rs764072134
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG rs778206973
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-19T>C
NM_005476.7(GNE):c.1282-7C>G
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-9C>G
NM_005476.7(GNE):c.1302T>C (p.Tyr434=) rs886044498
NM_005476.7(GNE):c.1308G>A (p.Gln436=) rs2133024862
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1323C>A (p.Thr441=) rs2133024607
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
NM_005476.7(GNE):c.135A>G (p.Val45=) rs2133125932
NM_005476.7(GNE):c.1362G>C (p.Val454=)
NM_005476.7(GNE):c.1365A>G (p.Glu455=) rs2133024264
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
NM_005476.7(GNE):c.1411+10_1411+11del rs2133023892
NM_005476.7(GNE):c.1411+7T>G
NM_005476.7(GNE):c.1412-20G>C rs751339818
NM_005476.7(GNE):c.1419C>G (p.Ser473=) rs2133022403
NM_005476.7(GNE):c.1461T>C (p.His487=)
NM_005476.7(GNE):c.1467C>T (p.Thr489=) rs1235105944
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
NM_005476.7(GNE):c.147C>T (p.His49=) rs974552839
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
NM_005476.7(GNE):c.1500T>A (p.Leu500=) rs2133021961
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
NM_005476.7(GNE):c.1522T>C (p.Leu508=) rs2133021847
NM_005476.7(GNE):c.1563T>C (p.Ala521=) rs2133021324
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
NM_005476.7(GNE):c.1590A>G (p.Gln530=) rs2133021114
NM_005476.7(GNE):c.159C>T (p.Asp53=) rs1830018253
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
NM_005476.7(GNE):c.1602G>A (p.Leu534=) rs2133020974
NM_005476.7(GNE):c.1614T>A (p.Val538=) rs2133020873
NM_005476.7(GNE):c.162T>C (p.Tyr54=) rs756575824
NM_005476.7(GNE):c.1633+10G>A rs1332613836
NM_005476.7(GNE):c.1633+12A>G
NM_005476.7(GNE):c.1633+12del
NM_005476.7(GNE):c.1633+14G>A rs748208582
NM_005476.7(GNE):c.1633+15G>T
NM_005476.7(GNE):c.1633+7G>C rs773608353
NM_005476.7(GNE):c.1633+8G>C rs1028353184
NM_005476.7(GNE):c.1634-10C>T
NM_005476.7(GNE):c.1634-11C>T
NM_005476.7(GNE):c.1634-14A>G
NM_005476.7(GNE):c.1634-16C>T
NM_005476.7(GNE):c.1634-20A>T
NM_005476.7(GNE):c.1634-4G>C
NM_005476.7(GNE):c.1634-6C>A
NM_005476.7(GNE):c.1634-7G>C rs139442869
NM_005476.7(GNE):c.1638C>A (p.Ile546=) rs147768211
NM_005476.7(GNE):c.164+16T>C
NM_005476.7(GNE):c.164+19C>T
NM_005476.7(GNE):c.164+7T>C
NM_005476.7(GNE):c.164+8G>A rs2133125796
NM_005476.7(GNE):c.165-12C>G
NM_005476.7(GNE):c.165-12C>T
NM_005476.7(GNE):c.165-5T>C
NM_005476.7(GNE):c.165-6C>G rs2133114327
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_005476.7(GNE):c.1671C>T (p.Ile557=) rs1587277726
NM_005476.7(GNE):c.1689T>C (p.Cys563=) rs768667610
NM_005476.7(GNE):c.1692T>G (p.Ala564=) rs1393386221
NM_005476.7(GNE):c.171A>G (p.Thr57=)
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
NM_005476.7(GNE):c.1752T>C (p.His584=) rs1368954364
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
NM_005476.7(GNE):c.175C>A (p.Arg59=)
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
NM_005476.7(GNE):c.1791G>A (p.Gln597=) rs1828506261
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+15C>G
NM_005476.7(GNE):c.1816+18G>A
NM_005476.7(GNE):c.1816+7G>A
NM_005476.7(GNE):c.1816+8T>G
NM_005476.7(GNE):c.1816+9C>A
NM_005476.7(GNE):c.1817-10C>T rs2132997852
NM_005476.7(GNE):c.1817-11_1817-8del rs769454562
NM_005476.7(GNE):c.1817-12C>G
NM_005476.7(GNE):c.1817-12C>T
NM_005476.7(GNE):c.1817-14C>T
NM_005476.7(GNE):c.1817-18C>A
NM_005476.7(GNE):c.1817-4T>G
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
NM_005476.7(GNE):c.1828T>C (p.Leu610=) rs2132997736
NM_005476.7(GNE):c.1833G>A (p.Val611=) rs2132997684
NM_005476.7(GNE):c.1839G>A (p.Gly613=) rs2132997665
NM_005476.7(GNE):c.1857T>C (p.Asp619=) rs1587273465
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
NM_005476.7(GNE):c.1878T>C (p.His626=)
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
NM_005476.7(GNE):c.192T>C (p.Asp64=) rs2133114091
NM_005476.7(GNE):c.1933+11G>C
NM_005476.7(GNE):c.1933+12G>A
NM_005476.7(GNE):c.1933+13C>T
NM_005476.7(GNE):c.1933+19G>A
NM_005476.7(GNE):c.1933+7A>C rs368100600
NM_005476.7(GNE):c.1933+7A>G rs368100600
NM_005476.7(GNE):c.1933+8_1933+17dup
NM_005476.7(GNE):c.1934-10C>T
NM_005476.7(GNE):c.1934-11T>C
NM_005476.7(GNE):c.1934-11T>G
NM_005476.7(GNE):c.1934-12G>T
NM_005476.7(GNE):c.1934-17T>C
NM_005476.7(GNE):c.1934-4A>G rs2132994193
NM_005476.7(GNE):c.1934-6C>T
NM_005476.7(GNE):c.1934-7C>T rs1387525049
NM_005476.7(GNE):c.1934-8C>T rs2132994218
NM_005476.7(GNE):c.1945T>C (p.Leu649=) rs1045540608
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
NM_005476.7(GNE):c.1971C>A (p.Leu657=) rs2132993854
NM_005476.7(GNE):c.1989C>A (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1989C>T (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
NM_005476.7(GNE):c.2025T>C (p.Tyr675=) rs1479027996
NM_005476.7(GNE):c.204T>C (p.Ile68=)
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
NM_005476.7(GNE):c.2073G>A (p.Val691=) rs760445653
NM_005476.7(GNE):c.2085T>C (p.Asp695=) rs2132992452
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2097G>C (p.Ser699=) rs200490682
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
NM_005476.7(GNE):c.2127T>C (p.Ala709=) rs1282905700
NM_005476.7(GNE):c.213G>A (p.Arg71=)
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
NM_005476.7(GNE):c.243G>A (p.Glu81=)
NM_005476.7(GNE):c.246A>G (p.Ala82=) rs2133113710
NM_005476.7(GNE):c.255G>A (p.Val85=) rs2133113626
NM_005476.7(GNE):c.267C>G (p.Gly89=)
NM_005476.7(GNE):c.267C>T (p.Gly89=)
NM_005476.7(GNE):c.276A>C (p.Leu92=)
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.303C>G (p.Arg101=)
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.330T>C (p.His110=) rs2133113028
NM_005476.7(GNE):c.348C>T (p.Ala116=)
NM_005476.7(GNE):c.363A>G (p.Thr121=)
NM_005476.7(GNE):c.366T>C (p.Ser122=) rs1421322802
NM_005476.7(GNE):c.417T>C (p.Ser139=)
NM_005476.7(GNE):c.420G>A (p.Gly140=) rs2133112706
NM_005476.7(GNE):c.432C>T (p.Asp144=) rs2133112638
NM_005476.7(GNE):c.441A>G (p.Arg147=)
NM_005476.7(GNE):c.444T>C (p.His148=)
NM_005476.7(GNE):c.474G>A (p.Val158=)
NM_005476.7(GNE):c.474G>C (p.Val158=) rs753803897
NM_005476.7(GNE):c.480C>T (p.Cys160=) rs1360990295
NM_005476.7(GNE):c.489T>C (p.Ser163=)
NM_005476.7(GNE):c.495G>A (p.Glu165=) rs2133112122
NM_005476.7(GNE):c.538T>C (p.Leu180=) rs2133111925
NM_005476.7(GNE):c.549C>T (p.Cys183=)
NM_005476.7(GNE):c.54C>T (p.Asn18=) rs1406781067
NM_005476.7(GNE):c.588C>T (p.Asp196=)
NM_005476.7(GNE):c.591C>T (p.Tyr197=) rs2133111680
NM_005476.7(GNE):c.597C>T (p.Ser199=)
NM_005476.7(GNE):c.616+15C>A rs1002961152
NM_005476.7(GNE):c.617-13T>C rs1266835565
NM_005476.7(GNE):c.63T>C (p.Asp21=)
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
NM_005476.7(GNE):c.648T>G (p.Val216=) rs375728173
NM_005476.7(GNE):c.654A>G (p.Leu218=)
NM_005476.7(GNE):c.660C>T (p.His220=) rs2133078408
NM_005476.7(GNE):c.681G>A (p.Lys227=) rs201894560
NM_005476.7(GNE):c.709T>C (p.Leu237=) rs2133078170
NM_005476.7(GNE):c.723C>T (p.Ile241=)
NM_005476.7(GNE):c.750G>A (p.Leu250=)
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.759T>C (p.Asn253=)
NM_005476.7(GNE):c.769+10C>T
NM_005476.7(GNE):c.769+19G>A
NM_005476.7(GNE):c.769+7G>A rs2133077826
NM_005476.7(GNE):c.770-20G>A
NM_005476.7(GNE):c.770-20G>T
NM_005476.7(GNE):c.770-8_770-3del
NM_005476.7(GNE):c.780G>A (p.Glu260=)
NM_005476.7(GNE):c.78C>G (p.Ala26=)
NM_005476.7(GNE):c.798G>A (p.Arg266=) rs2133068760
NM_005476.7(GNE):c.807C>T (p.Gly269=)
NM_005476.7(GNE):c.81G>A (p.Pro27=) rs768397785
NM_005476.7(GNE):c.831T>C (p.Arg277=) rs1367695782
NM_005476.7(GNE):c.840A>G (p.Lys280=)
NM_005476.7(GNE):c.879T>C (p.His293=)
NM_005476.7(GNE):c.894T>C (p.Ile298=) rs1277539567
NM_005476.7(GNE):c.942T>C (p.Pro314=) rs2133068079
NM_005476.7(GNE):c.951C>T (p.Asn317=) rs1456510873
NM_005476.7(GNE):c.982+13G>C
NM_005476.7(GNE):c.982+17A>G
NM_005476.7(GNE):c.982+19A>C
NM_005476.7(GNE):c.982+9C>T rs1829282969
NM_005476.7(GNE):c.983-16C>T
NM_005476.7(GNE):c.983-7T>C
NM_005476.7(GNE):c.983-8T>G
NM_005476.7(GNE):c.984G>A (p.Gly328=) rs2133049807
NM_005476.7(GNE):c.987G>A (p.Glu329=) rs2133049764
NM_005476.7(GNE):c.9G>A (p.Lys3=) rs2133126488
NM_014915.3(ANKRD26):c.-51T>A rs762195334
NM_014915.3(ANKRD26):c.1364A>G (p.Asp455Gly) rs199857139
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del) rs138423863
NM_014915.3(ANKRD26):c.1986-3del rs113123391
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) rs61730102
NM_016363.5(GP6):c.*485C>T
NM_018947.6(CYCS):c.*1678dup rs11427893
NM_018947.6(CYCS):c.*1702_*1705dup rs141609926
NM_018947.6(CYCS):c.*3610del rs60346464
NM_018947.6(CYCS):c.*4723_*4725del rs113653188
NM_032844.4(MASTL):c.-112dup rs150868633
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090

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