ClinVar Miner

List of variants in gene CEP250 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1357
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.2889+28= rs224373 0.87909
NM_007186.6(CEP250):c.1389-117= rs224361 0.38844
NM_007186.6(CEP250):c.949-200= rs224360 0.37370
NM_007186.6(CEP250):c.493-182= rs224354 0.36795
NM_007186.6(CEP250):c.1572-232C>T rs4911503 0.34166
NM_007186.6(CEP250):c.1051-212T>C rs2281849 0.34160
NM_007186.6(CEP250):c.6907-47A>G rs2236165 0.34157
NM_007186.6(CEP250):c.6907-191T>C rs4281980 0.31760
NM_007186.6(CEP250):c.2586+190A>G rs10439606 0.17871
NM_007186.6(CEP250):c.4322G>A (p.Arg1441Gln) rs3748433 0.11335
NM_007186.6(CEP250):c.1863+58C>T rs57616316 0.07740
NM_007186.6(CEP250):c.1571+41T>C rs35395621 0.04566
NM_007186.6(CEP250):c.3945G>T (p.Leu1315=) rs2274238 0.03486
NM_007186.6(CEP250):c.3307-20G>A rs117075109 0.02768
NM_007186.6(CEP250):c.1863+81C>G rs17092679 0.02437
NM_007186.6(CEP250):c.2889+65G>A rs7263450 0.02383
NM_007186.6(CEP250):c.7065+86C>G rs76529782 0.02383
NM_007186.6(CEP250):c.3656-244G>C rs74327142 0.02382
NM_007186.6(CEP250):c.3167+198T>C rs932551 0.02381
NM_007186.6(CEP250):c.5478G>A (p.Gln1826=) rs17092712 0.02380
NM_007186.6(CEP250):c.3778-140A>G rs116454922 0.02379
NM_007186.6(CEP250):c.3306+206A>G rs74427159 0.02223
NM_007186.6(CEP250):c.1837G>T (p.Val613Phe) rs74929920 0.01955
NM_007186.6(CEP250):c.6750+6C>G rs76603816 0.01539
NM_007186.6(CEP250):c.3738C>T (p.His1246=) rs61998233 0.01538
NM_007186.6(CEP250):c.679G>A (p.Ala227Thr) rs115994448 0.01537
NM_007186.6(CEP250):c.2586+19C>T rs8118913 0.01440
NM_007186.6(CEP250):c.6951G>A (p.Ala2317=) rs61745969 0.01400
NM_007186.6(CEP250):c.2954G>A (p.Arg985Gln) rs75672673 0.01216
NM_007186.6(CEP250):c.3214C>G (p.Gln1072Glu) rs17092706 0.01205
NM_007186.6(CEP250):c.4782G>A (p.Thr1594=) rs41290924 0.01074
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
NM_007186.6(CEP250):c.6211G>A (p.Glu2071Lys) rs61729986 0.00863
NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln) rs56259282 0.00743
NM_007186.6(CEP250):c.3033+28A>G rs115699391 0.00631
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn) rs61729988 0.00621
NM_007186.6(CEP250):c.2641G>A (p.Glu881Lys) rs140439099 0.00609
NM_007186.6(CEP250):c.6358A>G (p.Asn2120Asp) rs61729985 0.00577
NM_007186.6(CEP250):c.3381G>A (p.Glu1127=) rs151074856 0.00574
NM_007186.6(CEP250):c.5570G>A (p.Arg1857His) rs73903079 0.00442
NM_007186.6(CEP250):c.6157C>T (p.His2053Tyr) rs57577046 0.00434
NM_007186.6(CEP250):c.2391C>T (p.Val797=) rs111853969 0.00357
NM_007186.6(CEP250):c.5974C>T (p.Arg1992Cys) rs41290926 0.00299
NM_007186.6(CEP250):c.6150G>A (p.Glu2050=) rs114108181 0.00299
NM_007186.6(CEP250):c.6386A>G (p.His2129Arg) rs61729984 0.00185
NM_007186.6(CEP250):c.6943A>G (p.Met2315Val) rs114001563 0.00175
NM_007186.6(CEP250):c.1001C>T (p.Ala334Val) rs116166982 0.00169
NM_007186.6(CEP250):c.6611G>A (p.Arg2204Gln) rs188311566 0.00145
NM_007186.6(CEP250):c.2985A>T (p.Gln995His) rs2296403 0.00118
NM_007186.6(CEP250):c.384C>T (p.Asp128=) rs147554271 0.00093
NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys) rs754782740 0.00092
NM_007186.6(CEP250):c.4485C>T (p.Ala1495=) rs114039410 0.00090
NM_007186.6(CEP250):c.2775G>T (p.Lys925Asn) rs145916875 0.00081
NM_007186.6(CEP250):c.2120C>T (p.Thr707Met) rs139645049 0.00062
NM_007186.6(CEP250):c.1827G>A (p.Ala609=) rs116246408 0.00061
NM_007186.6(CEP250):c.493-1G>A rs200083040 0.00059
NM_007186.6(CEP250):c.1462C>T (p.Arg488Cys) rs151167358 0.00051
NM_007186.6(CEP250):c.2289-7C>A rs200780994 0.00046
NM_007186.6(CEP250):c.3207T>G (p.Leu1069=) rs61729981 0.00043
NM_007186.6(CEP250):c.3237A>G (p.Gln1079=) rs61733772 0.00041
NM_007186.6(CEP250):c.2669G>C (p.Arg890Thr) rs144024361 0.00036
NM_007186.6(CEP250):c.6417A>G (p.Leu2139=) rs77537563 0.00036
NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr) rs149028062 0.00032
NM_007186.6(CEP250):c.3855A>G (p.Thr1285=) rs139078811 0.00030
NM_007186.6(CEP250):c.7066-5A>G rs373195359 0.00030
NM_007186.6(CEP250):c.244-6G>A rs377361213 0.00029
NM_007186.6(CEP250):c.3383T>C (p.Leu1128Pro) rs750056511 0.00029
NM_007186.6(CEP250):c.49C>A (p.Gln17Lys) rs141393541 0.00028
NM_007186.6(CEP250):c.4674G>C (p.Leu1558=) rs149333362 0.00027
NM_007186.6(CEP250):c.6795G>A (p.Lys2265=) rs528180639 0.00027
NM_007186.6(CEP250):c.7066-11C>T rs201178839 0.00027
NM_007186.6(CEP250):c.3469C>T (p.Arg1157Cys) rs77804973 0.00026
NM_007186.6(CEP250):c.3933A>G (p.Leu1311=) rs146450676 0.00026
NM_007186.6(CEP250):c.5025C>T (p.Thr1675=) rs145923641 0.00026
NM_007186.6(CEP250):c.6162G>T (p.Gln2054His) rs368365512 0.00026
NM_007186.6(CEP250):c.1971G>A (p.Leu657=) rs373519159 0.00024
NM_007186.6(CEP250):c.6377C>T (p.Pro2126Leu) rs147497691 0.00024
NM_007186.6(CEP250):c.3501C>T (p.Ala1167=) rs147057333 0.00022
NM_007186.6(CEP250):c.4737G>T (p.Leu1579=) rs772730293 0.00021
NM_007186.6(CEP250):c.482T>C (p.Met161Thr) rs140783729 0.00021
NM_007186.6(CEP250):c.5858G>A (p.Arg1953Gln) rs368886450 0.00021
NM_007186.6(CEP250):c.1380T>C (p.Ser460=) rs142139756 0.00020
NM_007186.6(CEP250):c.1708C>T (p.Leu570=) rs145111069 0.00020
NM_007186.6(CEP250):c.1716+15C>T rs377432961 0.00020
NM_007186.6(CEP250):c.1826C>T (p.Ala609Val) rs145878385 0.00020
NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter) rs200263031 0.00019
NM_007186.6(CEP250):c.1213C>T (p.Leu405=) rs147572292 0.00018
NM_007186.6(CEP250):c.2627C>T (p.Ala876Val) rs534168614 0.00018
NM_007186.6(CEP250):c.2953C>T (p.Arg985Trp) rs369079762 0.00018
NM_007186.6(CEP250):c.3132C>T (p.Asn1044=) rs779632867 0.00018
NM_007186.6(CEP250):c.2274A>G (p.Gln758=) rs139485406 0.00017
NM_007186.6(CEP250):c.5926G>T (p.Ala1976Ser) rs367908520 0.00017
NM_007186.6(CEP250):c.1944G>A (p.Ala648=) rs374906853 0.00016
NM_007186.6(CEP250):c.5805C>G (p.Leu1935=) rs530254316 0.00016
NM_007186.6(CEP250):c.6637-9G>A rs145557638 0.00016
NM_007186.6(CEP250):c.6841C>T (p.Arg2281Trp) rs148942784 0.00016
NM_007186.6(CEP250):c.851G>A (p.Arg284Gln) rs139021763 0.00016
NM_007186.6(CEP250):c.4106C>T (p.Ala1369Val) rs142447631 0.00015
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His) rs138568893 0.00015
NM_007186.6(CEP250):c.1051G>A (p.Val351Ile) rs149721292 0.00014
NM_007186.6(CEP250):c.1174C>T (p.Arg392Cys) rs370543710 0.00014
NM_007186.6(CEP250):c.2230C>T (p.Arg744Trp) rs199810583 0.00014
NM_007186.6(CEP250):c.3167+20G>A rs376973551 0.00014
NM_007186.6(CEP250):c.4105G>A (p.Ala1369Thr) rs367939150 0.00014
NM_007186.6(CEP250):c.2289-15T>C rs375501260 0.00013
NM_007186.6(CEP250):c.257A>G (p.Gln86Arg) rs116101806 0.00013
NM_007186.6(CEP250):c.3167+17A>G rs113924697 0.00013
NM_007186.6(CEP250):c.3670A>G (p.Arg1224Gly) rs781293599 0.00013
NM_007186.6(CEP250):c.7009-15G>T rs774812838 0.00013
NM_007186.6(CEP250):c.492+12G>A rs756657396 0.00012
NM_007186.6(CEP250):c.5119C>G (p.Gln1707Glu) rs774513754 0.00012
NM_007186.6(CEP250):c.7191C>T (p.Ala2397=) rs150287277 0.00012
NM_007186.6(CEP250):c.1412C>G (p.Ala471Gly) rs199644814 0.00011
NM_007186.6(CEP250):c.1716+3G>A rs200605614 0.00011
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_007186.6(CEP250):c.5850G>A (p.Gln1950=) rs368373743 0.00011
NM_007186.6(CEP250):c.5857C>T (p.Arg1953Trp) rs374682692 0.00011
NM_007186.6(CEP250):c.6106G>A (p.Asp2036Asn) rs555985621 0.00011
NM_007186.6(CEP250):c.7018G>A (p.Gly2340Arg) rs144859303 0.00011
NM_007186.6(CEP250):c.982G>A (p.Ala328Thr) rs150639987 0.00011
NM_007186.6(CEP250):c.1002G>A (p.Ala334=) rs369235134 0.00010
NM_007186.6(CEP250):c.1906G>A (p.Ala636Thr) rs143216068 0.00010
NM_007186.6(CEP250):c.1935C>T (p.Val645=) rs370009858 0.00010
NM_007186.6(CEP250):c.4095A>G (p.Val1365=) rs373738775 0.00010
NM_007186.6(CEP250):c.5997A>G (p.Ala1999=) rs369685029 0.00010
NM_007186.6(CEP250):c.2242G>A (p.Val748Met) rs754323656 0.00009
NM_007186.6(CEP250):c.2268T>A (p.Ala756=) rs150588824 0.00009
NM_007186.6(CEP250):c.4144A>C (p.Arg1382=) rs151254784 0.00009
NM_007186.6(CEP250):c.5497G>A (p.Glu1833Lys) rs201724904 0.00009
NM_007186.6(CEP250):c.6114G>A (p.Gln2038=) rs756833778 0.00009
NM_007186.6(CEP250):c.6872G>A (p.Arg2291His) rs143561620 0.00009
NM_007186.6(CEP250):c.7296C>T (p.Pro2432=) rs112262207 0.00009
NM_007186.6(CEP250):c.859G>A (p.Glu287Lys) rs142201582 0.00009
NM_007186.6(CEP250):c.227G>A (p.Arg76Gln) rs199579943 0.00008
NM_007186.6(CEP250):c.305G>A (p.Arg102Gln) rs367689090 0.00008
NM_007186.6(CEP250):c.3256C>T (p.Arg1086Cys) rs143143244 0.00008
NM_007186.6(CEP250):c.3594G>A (p.Glu1198=) rs201126201 0.00008
NM_007186.6(CEP250):c.3814C>T (p.Arg1272Cys) rs150723097 0.00008
NM_007186.6(CEP250):c.4773C>T (p.Thr1591=) rs562343473 0.00008
NM_007186.6(CEP250):c.5125C>T (p.Arg1709Trp) rs557321271 0.00008
NM_007186.6(CEP250):c.566G>A (p.Arg189His) rs138289150 0.00008
NM_007186.6(CEP250):c.5855C>G (p.Ser1952Cys) rs371486127 0.00008
NM_007186.6(CEP250):c.851+6A>G rs376343130 0.00008
NM_007186.6(CEP250):c.1210-14C>T rs762633725 0.00007
NM_007186.6(CEP250):c.1210-4A>G rs200428450 0.00007
NM_007186.6(CEP250):c.1463G>A (p.Arg488His) rs577762612 0.00007
NM_007186.6(CEP250):c.2249G>A (p.Arg750His) rs201775017 0.00007
NM_007186.6(CEP250):c.247C>T (p.Pro83Ser) rs202086265 0.00007
NM_007186.6(CEP250):c.2889+18G>A rs758185653 0.00007
NM_007186.6(CEP250):c.3399C>T (p.Ile1133=) rs758908106 0.00007
NM_007186.6(CEP250):c.5010C>G (p.Leu1670=) rs200762282 0.00007
NM_007186.6(CEP250):c.5572C>A (p.His1858Asn) rs200268845 0.00007
NM_007186.6(CEP250):c.5931G>A (p.Leu1977=) rs371750837 0.00007
NM_007186.6(CEP250):c.796G>A (p.Glu266Lys) rs374878358 0.00007
NM_007186.6(CEP250):c.1256T>G (p.Leu419Trp) rs575668907 0.00006
NM_007186.6(CEP250):c.1394G>T (p.Arg465Leu) rs765132427 0.00006
NM_007186.6(CEP250):c.2332C>A (p.Gln778Lys) rs570637370 0.00006
NM_007186.6(CEP250):c.244-4G>A rs777093587 0.00006
NM_007186.6(CEP250):c.2597G>A (p.Arg866His) rs573133591 0.00006
NM_007186.6(CEP250):c.3387G>A (p.Glu1129=) rs764500594 0.00006
NM_007186.6(CEP250):c.3453A>G (p.Gln1151=) rs527333329 0.00006
NM_007186.6(CEP250):c.4068G>C (p.Gln1356His) rs145316023 0.00006
NM_007186.6(CEP250):c.4148C>T (p.Thr1383Met) rs758095541 0.00006
NM_007186.6(CEP250):c.5027G>A (p.Arg1676Gln) rs199897634 0.00006
NM_007186.6(CEP250):c.5162G>A (p.Arg1721His) rs375993979 0.00006
NM_007186.6(CEP250):c.522C>T (p.His174=) rs770748663 0.00006
NM_007186.6(CEP250):c.5253C>G (p.Leu1751=) rs373046815 0.00006
NM_007186.6(CEP250):c.5884C>T (p.Arg1962Trp) rs775658359 0.00006
NM_007186.6(CEP250):c.5955C>T (p.Leu1985=) rs569215874 0.00006
NM_007186.6(CEP250):c.5963C>T (p.Ala1988Val) rs140286792 0.00006
NM_007186.6(CEP250):c.6307C>G (p.Leu2103Val) rs76891244 0.00006
NM_007186.6(CEP250):c.6373T>C (p.Leu2125=) rs762607625 0.00006
NM_007186.6(CEP250):c.6400A>G (p.Met2134Val) rs199936529 0.00006
NM_007186.6(CEP250):c.6522G>A (p.Gln2174=) rs202083340 0.00006
NM_007186.6(CEP250):c.6546G>T (p.Gln2182His) rs763994225 0.00006
NM_007186.6(CEP250):c.1783C>T (p.Arg595Trp) rs201227843 0.00005
NM_007186.6(CEP250):c.2099G>A (p.Arg700His) rs377363130 0.00005
NM_007186.6(CEP250):c.2156G>A (p.Arg719Gln) rs748499812 0.00005
NM_007186.6(CEP250):c.2758C>G (p.Gln920Glu) rs370665462 0.00005
NM_007186.6(CEP250):c.2784A>T (p.Val928=) rs781676671 0.00005
NM_007186.6(CEP250):c.3257G>A (p.Arg1086His) rs745957253 0.00005
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val) rs199592435 0.00005
NM_007186.6(CEP250):c.3982C>T (p.Arg1328Cys) rs747999521 0.00005
NM_007186.6(CEP250):c.5812C>T (p.Arg1938Trp) rs548722507 0.00005
NM_007186.6(CEP250):c.6083A>T (p.Asp2028Val) rs142635809 0.00005
NM_007186.6(CEP250):c.6169C>T (p.Arg2057Trp) rs149277986 0.00005
NM_007186.6(CEP250):c.6871C>T (p.Arg2291Cys) rs772146999 0.00005
NM_007186.6(CEP250):c.1085G>C (p.Gly362Ala) rs116172871 0.00004
NM_007186.6(CEP250):c.1159G>T (p.Ala387Ser) rs770666823 0.00004
NM_007186.6(CEP250):c.1189C>T (p.Arg397Trp) rs187123562 0.00004
NM_007186.6(CEP250):c.1388+10C>T rs202070155 0.00004
NM_007186.6(CEP250):c.1555C>T (p.Arg519Trp) rs369614541 0.00004
NM_007186.6(CEP250):c.1578G>A (p.Glu526=) rs780153353 0.00004
NM_007186.6(CEP250):c.1610A>G (p.Glu537Gly) rs760339581 0.00004
NM_007186.6(CEP250):c.1706C>T (p.Ala569Val) rs780173303 0.00004
NM_007186.6(CEP250):c.1716+4C>T rs1241548210 0.00004
NM_007186.6(CEP250):c.1784G>A (p.Arg595Gln) rs765356303 0.00004
NM_007186.6(CEP250):c.1943C>T (p.Ala648Val) rs531444330 0.00004
NM_007186.6(CEP250):c.2197G>A (p.Ala733Thr) rs376769176 0.00004
NM_007186.6(CEP250):c.2254C>T (p.Arg752Trp) rs114785942 0.00004
NM_007186.6(CEP250):c.2255G>A (p.Arg752Gln) rs376106638 0.00004
NM_007186.6(CEP250):c.2456G>A (p.Arg819Gln) rs199866080 0.00004
NM_007186.6(CEP250):c.2526T>C (p.Thr842=) rs369949999 0.00004
NM_007186.6(CEP250):c.2540A>G (p.Gln847Arg) rs771713524 0.00004
NM_007186.6(CEP250):c.2755-16C>G rs578203793 0.00004
NM_007186.6(CEP250):c.2811G>A (p.Thr937=) rs749494768 0.00004
NM_007186.6(CEP250):c.2890-8C>T rs776405843 0.00004
NM_007186.6(CEP250):c.2932C>T (p.Arg978Trp) rs376499964 0.00004
NM_007186.6(CEP250):c.3229A>G (p.Ile1077Val) rs780555640 0.00004
NM_007186.6(CEP250):c.327-4G>A rs375458172 0.00004
NM_007186.6(CEP250):c.3306+8C>G rs370100138 0.00004
NM_007186.6(CEP250):c.3307-10T>C rs775618192 0.00004
NM_007186.6(CEP250):c.3424T>C (p.Leu1142=) rs746080538 0.00004
NM_007186.6(CEP250):c.3470G>A (p.Arg1157His) rs757635678 0.00004
NM_007186.6(CEP250):c.3517G>A (p.Gly1173Arg) rs377120249 0.00004
NM_007186.6(CEP250):c.353C>T (p.Thr118Ile) rs369894925 0.00004
NM_007186.6(CEP250):c.3715G>A (p.Glu1239Lys) rs762565763 0.00004
NM_007186.6(CEP250):c.3815G>A (p.Arg1272His) rs770550852 0.00004
NM_007186.6(CEP250):c.3935A>C (p.Glu1312Ala) rs766723321 0.00004
NM_007186.6(CEP250):c.3988C>T (p.Arg1330Trp) rs773111712 0.00004
NM_007186.6(CEP250):c.4069G>A (p.Val1357Met) rs761101944 0.00004
NM_007186.6(CEP250):c.4227C>T (p.Gly1409=) rs147073538 0.00004
NM_007186.6(CEP250):c.4321C>T (p.Arg1441Trp) rs533821058 0.00004
NM_007186.6(CEP250):c.4352G>A (p.Arg1451Gln) rs142385694 0.00004
NM_007186.6(CEP250):c.4357A>G (p.Met1453Val) rs755129565 0.00004
NM_007186.6(CEP250):c.4566C>T (p.Asn1522=) rs376332581 0.00004
NM_007186.6(CEP250):c.4641C>A (p.Asp1547Glu) rs756300112 0.00004
NM_007186.6(CEP250):c.4889A>G (p.Gln1630Arg) rs760716080 0.00004
NM_007186.6(CEP250):c.4918G>A (p.Glu1640Lys) rs755541063 0.00004
NM_007186.6(CEP250):c.5554A>G (p.Met1852Val) rs199900436 0.00004
NM_007186.6(CEP250):c.5642G>A (p.Arg1881Gln) rs145352934 0.00004
NM_007186.6(CEP250):c.5947C>T (p.His1983Tyr) rs1013360865 0.00004
NM_007186.6(CEP250):c.6447G>A (p.Gln2149=) rs985469451 0.00004
NM_007186.6(CEP250):c.6496G>A (p.Glu2166Lys) rs959584807 0.00004
NM_007186.6(CEP250):c.6543G>A (p.Ala2181=) rs373000443 0.00004
NM_007186.6(CEP250):c.6545A>C (p.Gln2182Pro) rs149811081 0.00004
NM_007186.6(CEP250):c.6556A>G (p.Ser2186Gly) rs753684828 0.00004
NM_007186.6(CEP250):c.6658C>T (p.Arg2220Trp) rs199913444 0.00004
NM_007186.6(CEP250):c.6761T>C (p.Val2254Ala) rs774223309 0.00004
NM_007186.6(CEP250):c.7100G>A (p.Arg2367Gln) rs138549858 0.00004
NM_007186.6(CEP250):c.7163A>G (p.His2388Arg) rs772480349 0.00004
NM_007186.6(CEP250):c.777A>G (p.Glu259=) rs370716775 0.00004
NM_007186.6(CEP250):c.858C>T (p.Thr286=) rs772516342 0.00004
NM_007186.6(CEP250):c.913A>G (p.Met305Val) rs146309487 0.00004
NM_007186.6(CEP250):c.1050+15C>G rs757809499 0.00003
NM_007186.6(CEP250):c.1062A>G (p.Glu354=) rs116735629 0.00003
NM_007186.6(CEP250):c.158C>A (p.Ala53Glu) rs1362290736 0.00003
NM_007186.6(CEP250):c.1675C>A (p.Leu559Met) rs201427125 0.00003
NM_007186.6(CEP250):c.1689A>C (p.Gln563His) rs752059639 0.00003
NM_007186.6(CEP250):c.1894A>G (p.Arg632Gly) rs754556013 0.00003
NM_007186.6(CEP250):c.1917G>A (p.Ala639=) rs1258544220 0.00003
NM_007186.6(CEP250):c.1980G>T (p.Lys660Asn) rs753576216 0.00003
NM_007186.6(CEP250):c.2032C>G (p.Leu678Val) rs778549244 0.00003
NM_007186.6(CEP250):c.2094+1G>A rs762000140 0.00003
NM_007186.6(CEP250):c.2725C>T (p.Arg909Trp) rs769974123 0.00003
NM_007186.6(CEP250):c.3401C>T (p.Thr1134Met) rs545422424 0.00003
NM_007186.6(CEP250):c.3474C>A (p.Ser1158Arg) rs765946133 0.00003
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser) rs201801448 0.00003
NM_007186.6(CEP250):c.3575C>A (p.Ala1192Asp) rs369355571 0.00003
NM_007186.6(CEP250):c.3581G>A (p.Gly1194Glu) rs372516061 0.00003
NM_007186.6(CEP250):c.3675C>T (p.Ser1225=) rs371562704 0.00003
NM_007186.6(CEP250):c.4189A>G (p.Ser1397Gly) rs778997715 0.00003
NM_007186.6(CEP250):c.4275C>G (p.Leu1425=) rs368599735 0.00003
NM_007186.6(CEP250):c.439C>T (p.Arg147Trp) rs941233169 0.00003
NM_007186.6(CEP250):c.4438C>A (p.Gln1480Lys) rs200729972 0.00003
NM_007186.6(CEP250):c.4796A>G (p.Glu1599Gly) rs764291685 0.00003
NM_007186.6(CEP250):c.4879G>A (p.Glu1627Lys) rs771919399 0.00003
NM_007186.6(CEP250):c.527G>A (p.Arg176His) rs201927235 0.00003
NM_007186.6(CEP250):c.5615A>T (p.Glu1872Val) rs1381077298 0.00003
NM_007186.6(CEP250):c.5790G>A (p.Gln1930=) rs761574175 0.00003
NM_007186.6(CEP250):c.6392C>T (p.Thr2131Ile) rs367689715 0.00003
NM_007186.6(CEP250):c.6532C>T (p.Leu2178Phe) rs369913865 0.00003
NM_007186.6(CEP250):c.6750+17G>A rs764589550 0.00003
NM_007186.6(CEP250):c.6946C>T (p.Arg2316Cys) rs546441918 0.00003
NM_007186.6(CEP250):c.700G>A (p.Gly234Arg) rs774719815 0.00003
NM_007186.6(CEP250):c.7140C>T (p.Thr2380=) rs199835017 0.00003
NM_007186.6(CEP250):c.1306C>T (p.Arg436Trp) rs767447175 0.00002
NM_007186.6(CEP250):c.1351A>G (p.Thr451Ala) rs1204430383 0.00002
NM_007186.6(CEP250):c.1389-7C>A rs776659605 0.00002
NM_007186.6(CEP250):c.1469G>A (p.Arg490Gln) rs759579361 0.00002
NM_007186.6(CEP250):c.1502A>T (p.Asp501Val) rs1170253093 0.00002
NM_007186.6(CEP250):c.1571T>C (p.Leu524Pro) rs1362624389 0.00002
NM_007186.6(CEP250):c.1852C>A (p.Gln618Lys) rs748842443 0.00002
NM_007186.6(CEP250):c.200G>A (p.Arg67Gln) rs754042296 0.00002
NM_007186.6(CEP250):c.2209G>A (p.Glu737Lys) rs115892599 0.00002
NM_007186.6(CEP250):c.2755-17C>T rs750186084 0.00002
NM_007186.6(CEP250):c.3083T>C (p.Leu1028Pro) rs116895236 0.00002
NM_007186.6(CEP250):c.3264C>T (p.Asp1088=) rs776575435 0.00002
NM_007186.6(CEP250):c.3336A>G (p.Glu1112=) rs2063881623 0.00002
NM_007186.6(CEP250):c.3389C>T (p.Ala1130Val) rs376566049 0.00002
NM_007186.6(CEP250):c.3551G>A (p.Ser1184Asn) rs768698333 0.00002
NM_007186.6(CEP250):c.3637G>A (p.Val1213Ile) rs781181484 0.00002
NM_007186.6(CEP250):c.3649G>C (p.Glu1217Gln) rs770036099 0.00002
NM_007186.6(CEP250):c.3899-6T>G rs771741325 0.00002
NM_007186.6(CEP250):c.3983G>A (p.Arg1328His) rs769794651 0.00002
NM_007186.6(CEP250):c.399C>T (p.Ala133=) rs749565417 0.00002
NM_007186.6(CEP250):c.4028G>A (p.Arg1343Gln) rs368716170 0.00002
NM_007186.6(CEP250):c.412G>A (p.Val138Met) rs776162097 0.00002
NM_007186.6(CEP250):c.4168C>G (p.Leu1390Val) rs777670042 0.00002
NM_007186.6(CEP250):c.4196G>A (p.Arg1399His) rs772173920 0.00002
NM_007186.6(CEP250):c.4336G>C (p.Glu1446Gln) rs757112602 0.00002
NM_007186.6(CEP250):c.440G>A (p.Arg147Gln) rs772076350 0.00002
NM_007186.6(CEP250):c.446G>A (p.Arg149Gln) rs763474027 0.00002
NM_007186.6(CEP250):c.461G>A (p.Arg154Lys) rs375906452 0.00002
NM_007186.6(CEP250):c.4620C>T (p.Ser1540=) rs767547469 0.00002
NM_007186.6(CEP250):c.4738G>A (p.Glu1580Lys) rs762718386 0.00002
NM_007186.6(CEP250):c.5089C>T (p.Arg1697Trp) rs200384192 0.00002
NM_007186.6(CEP250):c.5187G>C (p.Leu1729=) rs774621453 0.00002
NM_007186.6(CEP250):c.5195G>A (p.Arg1732His) rs775863903 0.00002
NM_007186.6(CEP250):c.5339T>C (p.Ile1780Thr) rs777106939 0.00002
NM_007186.6(CEP250):c.545G>A (p.Arg182Gln) rs762645568 0.00002
NM_007186.6(CEP250):c.5523C>T (p.Asp1841=) rs943676339 0.00002
NM_007186.6(CEP250):c.5527C>T (p.Leu1843Phe) rs768979527 0.00002
NM_007186.6(CEP250):c.5660A>G (p.Glu1887Gly) rs768431825 0.00002
NM_007186.6(CEP250):c.5689C>T (p.Arg1897Trp) rs142451996 0.00002
NM_007186.6(CEP250):c.5920C>T (p.His1974Tyr) rs762704919 0.00002
NM_007186.6(CEP250):c.5922T>C (p.His1974=) rs1397022481 0.00002
NM_007186.6(CEP250):c.6177G>A (p.Gln2059=) rs112052000 0.00002
NM_007186.6(CEP250):c.6270G>C (p.Arg2090Ser) rs751323505 0.00002
NM_007186.6(CEP250):c.6462G>A (p.Arg2154=) rs1163366076 0.00002
NM_007186.6(CEP250):c.6745G>A (p.Gly2249Arg) rs774504786 0.00002
NM_007186.6(CEP250):c.6966C>G (p.Ser2322=) rs368667877 0.00002
NM_007186.6(CEP250):c.6967C>G (p.Leu2323Val) rs114152601 0.00002
NM_007186.6(CEP250):c.7065G>A (p.Glu2355=) rs764790289 0.00002
NM_007186.6(CEP250):c.7294C>A (p.Pro2432Thr) rs201574445 0.00002
NM_007186.6(CEP250):c.7310C>T (p.Thr2437Ile) rs780500723 0.00002
NM_007186.6(CEP250):c.7318G>A (p.Ala2440Thr) rs748792917 0.00002
NM_007186.6(CEP250):c.850C>T (p.Arg284Trp) rs746586998 0.00002
NM_007186.6(CEP250):c.1050+11G>A rs1161179223 0.00001
NM_007186.6(CEP250):c.1115A>C (p.Asp372Ala) rs981413111 0.00001
NM_007186.6(CEP250):c.1150G>A (p.Ala384Thr) rs535076676 0.00001
NM_007186.6(CEP250):c.1158G>A (p.Lys386=) rs1186738262 0.00001
NM_007186.6(CEP250):c.1190G>A (p.Arg397Gln) rs766701871 0.00001
NM_007186.6(CEP250):c.1195C>T (p.Arg399Cys) rs756430899 0.00001
NM_007186.6(CEP250):c.1196G>A (p.Arg399His) rs773605537 0.00001
NM_007186.6(CEP250):c.119G>A (p.Arg40Gln) rs547906210 0.00001
NM_007186.6(CEP250):c.1210-13T>C rs763713634 0.00001
NM_007186.6(CEP250):c.1211A>G (p.Asp404Gly) rs751646493 0.00001
NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser) rs568247716 0.00001
NM_007186.6(CEP250):c.1257G>A (p.Leu419=) rs759999716 0.00001
NM_007186.6(CEP250):c.1296C>T (p.Ala432=) rs2063077925 0.00001
NM_007186.6(CEP250):c.1302A>G (p.Arg434=) rs761966498 0.00001
NM_007186.6(CEP250):c.1330C>T (p.Arg444Trp) rs371673891 0.00001
NM_007186.6(CEP250):c.1331G>A (p.Arg444Gln) rs374940278 0.00001
NM_007186.6(CEP250):c.1416G>A (p.Arg472=) rs780642468 0.00001
NM_007186.6(CEP250):c.1468C>T (p.Arg490Ter) rs776554898 0.00001
NM_007186.6(CEP250):c.1596A>G (p.Glu532=) rs774206252 0.00001
NM_007186.6(CEP250):c.1637G>A (p.Arg546Gln) rs776264848 0.00001
NM_007186.6(CEP250):c.1644C>T (p.Ala548=) rs2063148204 0.00001
NM_007186.6(CEP250):c.1701C>T (p.Thr567=) rs750652322 0.00001
NM_007186.6(CEP250):c.1707G>A (p.Ala569=) rs369931804 0.00001
NM_007186.6(CEP250):c.1716+12C>T rs746695375 0.00001
NM_007186.6(CEP250):c.1716+8G>T rs771799234 0.00001
NM_007186.6(CEP250):c.1717-14T>A rs745482365 0.00001
NM_007186.6(CEP250):c.1742C>T (p.Ser581Leu) rs773533323 0.00001
NM_007186.6(CEP250):c.1825G>A (p.Ala609Thr) rs751407265 0.00001
NM_007186.6(CEP250):c.186+19T>A rs758279493 0.00001
NM_007186.6(CEP250):c.1864-15C>G rs368522655 0.00001
NM_007186.6(CEP250):c.1923T>C (p.Asn641=) rs1207643632 0.00001
NM_007186.6(CEP250):c.1946A>G (p.Glu649Gly) rs1328924790 0.00001
NM_007186.6(CEP250):c.2018A>G (p.Glu673Gly) rs1426141323 0.00001
NM_007186.6(CEP250):c.2039C>T (p.Ala680Val) rs1298763139 0.00001
NM_007186.6(CEP250):c.2064G>A (p.Glu688=) rs147408283 0.00001
NM_007186.6(CEP250):c.2078A>G (p.Gln693Arg) rs375021604 0.00001
NM_007186.6(CEP250):c.2193G>C (p.Lys731Asn) rs1318845855 0.00001
NM_007186.6(CEP250):c.2217G>A (p.Ala739=) rs1462149509 0.00001
NM_007186.6(CEP250):c.2232G>T (p.Arg744=) rs772348458 0.00001
NM_007186.6(CEP250):c.2248C>T (p.Arg750Cys) rs1023005712 0.00001
NM_007186.6(CEP250):c.2262C>T (p.Asp754=) rs776467382 0.00001
NM_007186.6(CEP250):c.2266G>A (p.Ala756Thr) rs143763293 0.00001
NM_007186.6(CEP250):c.2288+8C>A rs767021030 0.00001
NM_007186.6(CEP250):c.2348T>C (p.Ile783Thr) rs761502389 0.00001
NM_007186.6(CEP250):c.2370G>A (p.Leu790=) rs2063286789 0.00001
NM_007186.6(CEP250):c.2427G>A (p.Arg809=) rs1207404389 0.00001
NM_007186.6(CEP250):c.244-9C>A rs1192665375 0.00001
NM_007186.6(CEP250):c.245G>A (p.Gly82Glu) rs1182415907 0.00001
NM_007186.6(CEP250):c.2476C>T (p.Arg826Trp) rs756221157 0.00001
NM_007186.6(CEP250):c.2486C>T (p.Ala829Val) rs1383273053 0.00001
NM_007186.6(CEP250):c.248C>T (p.Pro83Leu) rs539687407 0.00001
NM_007186.6(CEP250):c.2499G>A (p.Leu833=) rs377301561 0.00001
NM_007186.6(CEP250):c.2519G>C (p.Gly840Ala) rs1366448259 0.00001
NM_007186.6(CEP250):c.2531T>C (p.Leu844Ser) rs747984135 0.00001
NM_007186.6(CEP250):c.2535G>A (p.Glu845=) rs1348006329 0.00001
NM_007186.6(CEP250):c.2549C>T (p.Ala850Val) rs777598399 0.00001
NM_007186.6(CEP250):c.2555A>G (p.Glu852Gly) rs1227825658 0.00001
NM_007186.6(CEP250):c.2569C>A (p.Gln857Lys) rs1487610954 0.00001
NM_007186.6(CEP250):c.2575C>T (p.Arg859Trp) rs557810123 0.00001
NM_007186.6(CEP250):c.2578G>C (p.Glu860Gln) rs1202344010 0.00001
NM_007186.6(CEP250):c.2586+10C>A rs1402436560 0.00001
NM_007186.6(CEP250):c.2586+20G>A rs762264533 0.00001
NM_007186.6(CEP250):c.2685G>A (p.Gln895=) rs944010816 0.00001
NM_007186.6(CEP250):c.2691A>G (p.Glu897=) rs772570141 0.00001
NM_007186.6(CEP250):c.2726G>A (p.Arg909Gln) rs775429730 0.00001
NM_007186.6(CEP250):c.277G>A (p.Glu93Lys) rs374590661 0.00001
NM_007186.6(CEP250):c.280C>A (p.Pro94Thr) rs1329786176 0.00001
NM_007186.6(CEP250):c.2829T>C (p.Asp943=) rs764980962 0.00001
NM_007186.6(CEP250):c.283A>G (p.Asn95Asp) rs2062863551 0.00001
NM_007186.6(CEP250):c.2909A>C (p.Gln970Pro) rs762402549 0.00001
NM_007186.6(CEP250):c.3008A>T (p.Gln1003Leu) rs765672057 0.00001
NM_007186.6(CEP250):c.3029A>C (p.Lys1010Thr) rs751672702 0.00001
NM_007186.6(CEP250):c.3030G>A (p.Lys1010=) rs1400872105 0.00001
NM_007186.6(CEP250):c.3034-13C>G rs1021216847 0.00001
NM_007186.6(CEP250):c.304C>T (p.Arg102Ter) rs1266064055 0.00001
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter) rs1243282597 0.00001
NM_007186.6(CEP250):c.3134G>A (p.Arg1045Gln) rs763406705 0.00001
NM_007186.6(CEP250):c.3144G>A (p.Lys1048=) rs372995024 0.00001
NM_007186.6(CEP250):c.3167+15C>T rs370930613 0.00001
NM_007186.6(CEP250):c.3173C>G (p.Thr1058Ser) rs529608194 0.00001
NM_007186.6(CEP250):c.326+14A>G rs753370220 0.00001
NM_007186.6(CEP250):c.3260A>G (p.Gln1087Arg) rs1041975486 0.00001
NM_007186.6(CEP250):c.3323A>C (p.Gln1108Pro) rs1003254873 0.00001
NM_007186.6(CEP250):c.3331A>G (p.Lys1111Glu) rs774295146 0.00001
NM_007186.6(CEP250):c.3369G>C (p.Gln1123His) rs1454881312 0.00001
NM_007186.6(CEP250):c.3388G>A (p.Ala1130Thr) rs1158173739 0.00001
NM_007186.6(CEP250):c.3390G>A (p.Ala1130=) rs79678946 0.00001
NM_007186.6(CEP250):c.3448G>A (p.Ala1150Thr) rs770056831 0.00001
NM_007186.6(CEP250):c.3464G>A (p.Arg1155Gln) rs768729732 0.00001
NM_007186.6(CEP250):c.3467T>G (p.Leu1156Arg) rs1441178394 0.00001
NM_007186.6(CEP250):c.3490G>C (p.Glu1164Gln) rs953836987 0.00001
NM_007186.6(CEP250):c.3502G>A (p.Ala1168Thr) rs781608093 0.00001
NM_007186.6(CEP250):c.3516C>T (p.Pro1172=) rs756411662 0.00001
NM_007186.6(CEP250):c.3530A>C (p.Gln1177Pro) rs554606600 0.00001
NM_007186.6(CEP250):c.357G>A (p.Gln119=) rs377314862 0.00001
NM_007186.6(CEP250):c.3610A>G (p.Ser1204Gly) rs965378472 0.00001
NM_007186.6(CEP250):c.3628G>A (p.Ala1210Thr) rs750270883 0.00001
NM_007186.6(CEP250):c.3636C>T (p.Ser1212=) rs768771397 0.00001
NM_007186.6(CEP250):c.3655+4A>T rs1446112141 0.00001
NM_007186.6(CEP250):c.3704C>T (p.Ala1235Val) rs746352904 0.00001
NM_007186.6(CEP250):c.3711C>T (p.Ser1237=) rs532232752 0.00001
NM_007186.6(CEP250):c.3714T>C (p.Ala1238=) rs772988923 0.00001
NM_007186.6(CEP250):c.3776G>A (p.Arg1259Gln) rs749502180 0.00001
NM_007186.6(CEP250):c.3799C>T (p.Gln1267Ter) rs200644575 0.00001
NM_007186.6(CEP250):c.3872A>G (p.Gln1291Arg) rs1248345630 0.00001
NM_007186.6(CEP250):c.3930C>G (p.Ser1310=) rs775637333 0.00001
NM_007186.6(CEP250):c.3989G>A (p.Arg1330Gln) rs763131798 0.00001
NM_007186.6(CEP250):c.4007G>A (p.Arg1336Gln) rs767741329 0.00001
NM_007186.6(CEP250):c.4021-8T>A rs759462075 0.00001
NM_007186.6(CEP250):c.4040A>G (p.Gln1347Arg) rs1010390421 0.00001
NM_007186.6(CEP250):c.4075C>T (p.His1359Tyr) rs370016988 0.00001
NM_007186.6(CEP250):c.411T>C (p.Asp137=) rs769369386 0.00001
NM_007186.6(CEP250):c.4151C>T (p.Ala1384Val) rs768983267 0.00001
NM_007186.6(CEP250):c.4245A>G (p.Gln1415=) rs1299522231 0.00001
NM_007186.6(CEP250):c.4389G>A (p.Leu1463=) rs2064048529 0.00001
NM_007186.6(CEP250):c.4435A>G (p.Ile1479Val) rs775005555 0.00001
NM_007186.6(CEP250):c.4443G>A (p.Glu1481=) rs763763160 0.00001
NM_007186.6(CEP250):c.4540G>A (p.Glu1514Lys) rs774715998 0.00001
NM_007186.6(CEP250):c.4567G>A (p.Val1523Ile) rs558321170 0.00001
NM_007186.6(CEP250):c.4633G>A (p.Val1545Ile) rs1249251601 0.00001
NM_007186.6(CEP250):c.4736T>A (p.Leu1579Gln) rs1399342319 0.00001
NM_007186.6(CEP250):c.4839C>T (p.Asp1613=) rs758915146 0.00001
NM_007186.6(CEP250):c.4841T>C (p.Leu1614Pro) rs2064068521 0.00001
NM_007186.6(CEP250):c.4857C>T (p.Thr1619=) rs747612043 0.00001
NM_007186.6(CEP250):c.4858G>T (p.Val1620Phe) rs770116371 0.00001
NM_007186.6(CEP250):c.4914G>A (p.Gln1638=) rs1289936459 0.00001
NM_007186.6(CEP250):c.4943A>G (p.His1648Arg) rs182102263 0.00001
NM_007186.6(CEP250):c.4969G>A (p.Asp1657Asn) rs368334375 0.00001
NM_007186.6(CEP250):c.5076G>C (p.Leu1692Phe) rs758074500 0.00001
NM_007186.6(CEP250):c.5115G>A (p.Leu1705=) rs150675259 0.00001
NM_007186.6(CEP250):c.5126G>A (p.Arg1709Gln) rs767828423 0.00001
NM_007186.6(CEP250):c.5138G>A (p.Gly1713Glu) rs1041668197 0.00001
NM_007186.6(CEP250):c.520C>A (p.His174Asn) rs1211197591 0.00001
NM_007186.6(CEP250):c.523G>A (p.Gly175Ser) rs776545208 0.00001
NM_007186.6(CEP250):c.5263C>T (p.Leu1755=) rs756049234 0.00001
NM_007186.6(CEP250):c.5287C>T (p.His1763Tyr) rs370916610 0.00001
NM_007186.6(CEP250):c.5394G>C (p.Glu1798Asp) rs1568835615 0.00001
NM_007186.6(CEP250):c.5419G>A (p.Glu1807Lys) rs759174483 0.00001
NM_007186.6(CEP250):c.5448C>G (p.Asp1816Glu) rs139855716 0.00001
NM_007186.6(CEP250):c.5538T>C (p.Ala1846=) rs1443144183 0.00001
NM_007186.6(CEP250):c.5542G>C (p.Glu1848Gln) rs770216974 0.00001
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter) rs1369076411 0.00001
NM_007186.6(CEP250):c.5639G>A (p.Arg1880Gln) rs770264607 0.00001
NM_007186.6(CEP250):c.563G>A (p.Arg188Gln) rs755314316 0.00001
NM_007186.6(CEP250):c.5725C>T (p.Gln1909Ter) rs766398435 0.00001
NM_007186.6(CEP250):c.5734G>A (p.Glu1912Lys) rs373721972 0.00001
NM_007186.6(CEP250):c.5744A>G (p.Gln1915Arg) rs977837059 0.00001
NM_007186.6(CEP250):c.578A>C (p.Glu193Ala) rs973480161 0.00001
NM_007186.6(CEP250):c.5813G>A (p.Arg1938Gln) rs767687865 0.00001
NM_007186.6(CEP250):c.5836C>T (p.Arg1946Trp) rs756392151 0.00001
NM_007186.6(CEP250):c.5874T>C (p.Ala1958=) rs1436674333 0.00001
NM_007186.6(CEP250):c.5878C>T (p.Arg1960Trp) rs759442307 0.00001
NM_007186.6(CEP250):c.5885G>A (p.Arg1962Gln) rs760748107 0.00001
NM_007186.6(CEP250):c.5923G>T (p.Ala1975Ser) rs758974009 0.00001
NM_007186.6(CEP250):c.5965G>C (p.Glu1989Gln) rs772057106 0.00001
NM_007186.6(CEP250):c.5970G>T (p.Leu1990Phe) rs1279155153 0.00001
NM_007186.6(CEP250):c.5975G>A (p.Arg1992His) rs760800311 0.00001
NM_007186.6(CEP250):c.598A>G (p.Arg200Gly) rs1423228104 0.00001
NM_007186.6(CEP250):c.600-18T>C rs1416212486 0.00001
NM_007186.6(CEP250):c.6018T>C (p.Asp2006=) rs755632405 0.00001
NM_007186.6(CEP250):c.6038G>A (p.Arg2013Gln) rs373869925 0.00001
NM_007186.6(CEP250):c.6086A>G (p.Gln2029Arg) rs770146547 0.00001
NM_007186.6(CEP250):c.6170G>A (p.Arg2057Gln) rs749516825 0.00001
NM_007186.6(CEP250):c.6372C>T (p.Ala2124=) rs772619850 0.00001
NM_007186.6(CEP250):c.6409C>G (p.Gln2137Glu) rs369351014 0.00001
NM_007186.6(CEP250):c.6461G>A (p.Arg2154Gln) rs1478062497 0.00001
NM_007186.6(CEP250):c.646C>T (p.Leu216=) rs1358595793 0.00001
NM_007186.6(CEP250):c.6470C>A (p.Ala2157Glu) rs1167675349 0.00001
NM_007186.6(CEP250):c.6472G>T (p.Ala2158Ser) rs373402717 0.00001
NM_007186.6(CEP250):c.6501T>C (p.Ile2167=) rs562274381 0.00001
NM_007186.6(CEP250):c.6515A>G (p.Lys2172Arg) rs781529518 0.00001
NM_007186.6(CEP250):c.6560T>A (p.Val2187Asp) rs2064143093 0.00001
NM_007186.6(CEP250):c.656G>C (p.Cys219Ser) rs775896863 0.00001
NM_007186.6(CEP250):c.6610C>T (p.Arg2204Trp) rs748555397 0.00001
NM_007186.6(CEP250):c.6613G>A (p.Asp2205Asn) rs370454182 0.00001
NM_007186.6(CEP250):c.6637-10C>T rs1178445848 0.00001
NM_007186.6(CEP250):c.6637-19C>T rs373037412 0.00001
NM_007186.6(CEP250):c.6637-4C>G rs756618230 0.00001
NM_007186.6(CEP250):c.6684C>G (p.His2228Gln) rs1179460799 0.00001
NM_007186.6(CEP250):c.6691G>C (p.Gly2231Arg) rs747969822 0.00001
NM_007186.6(CEP250):c.673G>A (p.Val225Met) rs1253661871 0.00001
NM_007186.6(CEP250):c.6750+5G>A rs759613012 0.00001
NM_007186.6(CEP250):c.6774T>C (p.Pro2258=) rs2064243313 0.00001
NM_007186.6(CEP250):c.6807A>T (p.Arg2269Ser) rs764501654 0.00001
NM_007186.6(CEP250):c.6832G>T (p.Ala2278Ser) rs780598745 0.00001
NM_007186.6(CEP250):c.6842G>A (p.Arg2281Gln) rs755779040 0.00001
NM_007186.6(CEP250):c.6877A>C (p.Asn2293His) rs760918555 0.00001
NM_007186.6(CEP250):c.6878A>G (p.Asn2293Ser) rs769001536 0.00001
NM_007186.6(CEP250):c.6889C>T (p.Arg2297Trp) rs777058678 0.00001
NM_007186.6(CEP250):c.688C>T (p.Arg230Trp) rs1431590253 0.00001
NM_007186.6(CEP250):c.6898T>C (p.Leu2300=) rs535604273 0.00001
NM_007186.6(CEP250):c.6919C>T (p.Arg2307Trp) rs915467191 0.00001
NM_007186.6(CEP250):c.6924G>A (p.Arg2308=) rs2064275492 0.00001
NM_007186.6(CEP250):c.6950C>T (p.Ala2317Val) rs372133442 0.00001
NM_007186.6(CEP250):c.6957G>C (p.Gln2319His) rs201729351 0.00001
NM_007186.6(CEP250):c.6998C>T (p.Pro2333Leu) rs758278372 0.00001
NM_007186.6(CEP250):c.6999C>G (p.Pro2333=) rs1377537825 0.00001
NM_007186.6(CEP250):c.6G>A (p.Glu2=) rs778903424 0.00001
NM_007186.6(CEP250):c.7002A>T (p.Thr2334=) rs780123954 0.00001
NM_007186.6(CEP250):c.7009-20G>A rs749605016 0.00001
NM_007186.6(CEP250):c.7084C>T (p.Gln2362Ter) rs769393021 0.00001
NM_007186.6(CEP250):c.7085A>T (p.Gln2362Leu) rs562851586 0.00001
NM_007186.6(CEP250):c.7126C>T (p.Arg2376Cys) rs563013303 0.00001
NM_007186.6(CEP250):c.7144C>T (p.Arg2382Cys) rs201496220 0.00001
NM_007186.6(CEP250):c.7145G>A (p.Arg2382His) rs141146763 0.00001
NM_007186.6(CEP250):c.7169G>A (p.Ser2390Asn) rs1213364534 0.00001
NM_007186.6(CEP250):c.7192G>A (p.Val2398Met) rs747589645 0.00001
NM_007186.6(CEP250):c.7235G>A (p.Arg2412His) rs371792771 0.00001
NM_007186.6(CEP250):c.729G>A (p.Pro243=) rs747800327 0.00001
NM_007186.6(CEP250):c.7314A>G (p.Gln2438=) rs747425179 0.00001
NM_007186.6(CEP250):c.791G>A (p.Ser264Asn) rs761999604 0.00001
NM_007186.6(CEP250):c.794A>T (p.Gln265Leu) rs750545272 0.00001
NM_007186.6(CEP250):c.851+8G>A rs371028032 0.00001
NM_007186.6(CEP250):c.852-11C>T rs755554384 0.00001
NM_007186.6(CEP250):c.863T>C (p.Leu288Pro) rs747280346 0.00001
NM_007186.6(CEP250):c.868G>T (p.Ala290Ser) rs776921927 0.00001
NM_007186.6(CEP250):c.872T>C (p.Leu291Pro) rs1252710595 0.00001
NM_007186.6(CEP250):c.885T>C (p.Ser295=) rs765175211 0.00001
NM_007186.6(CEP250):c.949-6G>C rs768722631 0.00001
NM_007186.6(CEP250):c.986C>T (p.Ser329Phe) rs2063037729 0.00001
NC_000020.10:g.(?_34050193)_(34099455_?)del
NC_000020.10:g.(?_34060478)_(34060676_?)del
NM_007186.6(CEP250):c.1019C>T (p.Ser340Phe)
NM_007186.6(CEP250):c.1050+18G>A
NM_007186.6(CEP250):c.1050+7G>A
NM_007186.6(CEP250):c.1051-11T>C
NM_007186.6(CEP250):c.1051-12A>T rs1244519062
NM_007186.6(CEP250):c.1051-20C>G
NM_007186.6(CEP250):c.1066G>T (p.Gly356Trp) rs1461743489
NM_007186.6(CEP250):c.106G>A (p.Ala36Thr)
NM_007186.6(CEP250):c.1074T>C (p.Asn358=)
NM_007186.6(CEP250):c.1106T>C (p.Leu369Ser) rs2146783460
NM_007186.6(CEP250):c.1111T>C (p.Leu371=) rs2146783506
NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)
NM_007186.6(CEP250):c.1120A>T (p.Ser374Cys) rs755168706
NM_007186.6(CEP250):c.1133A>C (p.Gln378Pro)
NM_007186.6(CEP250):c.1167T>C (p.Thr389=) rs2146784354
NM_007186.6(CEP250):c.1175G>A (p.Arg392His)
NM_007186.6(CEP250):c.1175G>T (p.Arg392Leu) rs200471436
NM_007186.6(CEP250):c.1193G>A (p.Arg398Lys)
NM_007186.6(CEP250):c.1203T>C (p.Ala401=) rs2146785012
NM_007186.6(CEP250):c.1209+1G>A
NM_007186.6(CEP250):c.1210-4A>C
NM_007186.6(CEP250):c.1212C>T (p.Asp404=) rs2146791947
NM_007186.6(CEP250):c.1235del (p.Cys412fs) rs2146792205
NM_007186.6(CEP250):c.123G>C (p.Lys41Asn) rs1259781044
NM_007186.6(CEP250):c.1242G>A (p.Glu414=)
NM_007186.6(CEP250):c.1242G>C (p.Glu414Asp) rs376842301
NM_007186.6(CEP250):c.1243G>A (p.Ala415Thr) rs568247716
NM_007186.6(CEP250):c.1307G>A (p.Arg436Gln)
NM_007186.6(CEP250):c.1315A>C (p.Lys439Gln) rs2063078572
NM_007186.6(CEP250):c.1320C>T (p.Leu440=)
NM_007186.6(CEP250):c.1329G>A (p.Glu443=)
NM_007186.6(CEP250):c.1342G>A (p.Ala448Thr)
NM_007186.6(CEP250):c.1344A>T (p.Ala448=)
NM_007186.6(CEP250):c.1354G>A (p.Val452Met) rs2063080140
NM_007186.6(CEP250):c.1383C>G (p.Leu461=) rs773410352
NM_007186.6(CEP250):c.1388+16G>C
NM_007186.6(CEP250):c.1388+6C>T rs2146794851
NM_007186.6(CEP250):c.1388+7A>G rs766420065
NM_007186.6(CEP250):c.1389G>A (p.Lys463=) rs1359060727
NM_007186.6(CEP250):c.1392G>A (p.Glu464=)
NM_007186.6(CEP250):c.139G>A (p.Glu47Lys) rs2062777969
NM_007186.6(CEP250):c.1423C>T (p.Leu475=)
NM_007186.6(CEP250):c.1427G>A (p.Arg476Gln)
NM_007186.6(CEP250):c.1428G>T (p.Arg476=) rs2146799520
NM_007186.6(CEP250):c.1437G>A (p.Leu479=)
NM_007186.6(CEP250):c.1441G>A (p.Val481Met) rs748465305
NM_007186.6(CEP250):c.1447G>A (p.Glu483Lys) rs2146799795
NM_007186.6(CEP250):c.1458A>G (p.Ala486=)
NM_007186.6(CEP250):c.1467G>A (p.Leu489=)
NM_007186.6(CEP250):c.1470A>T (p.Arg490=)
NM_007186.6(CEP250):c.1501G>A (p.Asp501Asn) rs763828103
NM_007186.6(CEP250):c.1501G>C (p.Asp501His)
NM_007186.6(CEP250):c.1503C>T (p.Asp501=) rs2146801123
NM_007186.6(CEP250):c.1513G>A (p.Gly505Ser) rs1332642187
NM_007186.6(CEP250):c.1514G>A (p.Gly505Asp) rs2146801367
NM_007186.6(CEP250):c.1534G>A (p.Glu512Lys) rs1380228394
NM_007186.6(CEP250):c.1549G>A (p.Ala517Thr) rs755584093
NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys)
NM_007186.6(CEP250):c.1571+16C>G rs1406042527
NM_007186.6(CEP250):c.1571+18C>T
NM_007186.6(CEP250):c.1571+3_1571+6del
NM_007186.6(CEP250):c.1572-16C>T rs756179766
NM_007186.6(CEP250):c.1572-17T>G
NM_007186.6(CEP250):c.1584G>T (p.Leu528=) rs1042084485
NM_007186.6(CEP250):c.1585A>G (p.Met529Val)
NM_007186.6(CEP250):c.1597G>A (p.Ala533Thr) rs2146821661
NM_007186.6(CEP250):c.15C>T (p.Ser5=)
NM_007186.6(CEP250):c.1601_1602delinsGT (p.Lys534Ser) rs2146821765
NM_007186.6(CEP250):c.1627A>T (p.Ile543Phe)
NM_007186.6(CEP250):c.1636C>T (p.Arg546Trp) rs2063148034
NM_007186.6(CEP250):c.1652C>A (p.Ser551Ter) rs2146822389
NM_007186.6(CEP250):c.1659C>G (p.His553Gln) rs1383420557
NM_007186.6(CEP250):c.1661T>C (p.Leu554Pro)
NM_007186.6(CEP250):c.1675C>T (p.Leu559=) rs201427125
NM_007186.6(CEP250):c.1691C>A (p.Thr564Lys)
NM_007186.6(CEP250):c.1691C>T (p.Thr564Met) rs757589095
NM_007186.6(CEP250):c.1692G>A (p.Thr564=)
NM_007186.6(CEP250):c.1710G>T (p.Leu570=)
NM_007186.6(CEP250):c.1716+5G>A rs2063150425
NM_007186.6(CEP250):c.1717-12T>G
NM_007186.6(CEP250):c.1717-15C>T
NM_007186.6(CEP250):c.1717-16_1717-15insA
NM_007186.6(CEP250):c.1717-3del rs1470901100
NM_007186.6(CEP250):c.1725G>A (p.Gln575=) rs2146833929
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)
NM_007186.6(CEP250):c.1743G>A (p.Ser581=) rs1027486816
NM_007186.6(CEP250):c.1758C>T (p.Thr586=) rs2063177658
NM_007186.6(CEP250):c.1818G>A (p.Glu606=)
NM_007186.6(CEP250):c.1818G>C (p.Glu606Asp)
NM_007186.6(CEP250):c.1824G>C (p.Leu608Phe)
NM_007186.6(CEP250):c.1833T>C (p.Asp611=) rs2146835311
NM_007186.6(CEP250):c.1841G>T (p.Gly614Val)
NM_007186.6(CEP250):c.1842G>T (p.Gly614=)
NM_007186.6(CEP250):c.186+14C>G rs1269215308
NM_007186.6(CEP250):c.186+15C>G rs978101644
NM_007186.6(CEP250):c.186+16T>G
NM_007186.6(CEP250):c.186+18T>C
NM_007186.6(CEP250):c.1863+13T>A rs2146835759
NM_007186.6(CEP250):c.1863+18T>C
NM_007186.6(CEP250):c.1863+3G>T
NM_007186.6(CEP250):c.1864-16C>G rs2063216830
NM_007186.6(CEP250):c.1864-19T>C rs2146851943
NM_007186.6(CEP250):c.1867GAG[2] (p.Glu625del) rs755726097
NM_007186.6(CEP250):c.187-16G>A
NM_007186.6(CEP250):c.187-16G>C rs760858537
NM_007186.6(CEP250):c.187-5T>C
NM_007186.6(CEP250):c.1887G>A (p.Val629=) rs779776500
NM_007186.6(CEP250):c.1887G>T (p.Val629=)
NM_007186.6(CEP250):c.1905C>G (p.Ala635=) rs149559933
NM_007186.6(CEP250):c.1905C>T (p.Ala635=) rs149559933
NM_007186.6(CEP250):c.1908A>G (p.Ala636=) rs2146853261
NM_007186.6(CEP250):c.1933G>A (p.Val645Ile) rs2146853826
NM_007186.6(CEP250):c.1935C>A (p.Val645=)
NM_007186.6(CEP250):c.1936G>A (p.Asp646Asn) rs1171819903
NM_007186.6(CEP250):c.1957A>T (p.Arg653Trp)
NM_007186.6(CEP250):c.195G>A (p.Gln65=)
NM_007186.6(CEP250):c.1983C>T (p.Asn661=) rs2146854737
NM_007186.6(CEP250):c.1990C>G (p.Leu664Val) rs2063222260
NM_007186.6(CEP250):c.1993G>A (p.Glu665Lys)
NM_007186.6(CEP250):c.199C>T (p.Arg67Ter)
NM_007186.6(CEP250):c.2026G>A (p.Ala676Thr) rs1400411505
NM_007186.6(CEP250):c.2026G>T (p.Ala676Ser) rs1400411505
NM_007186.6(CEP250):c.2055C>G (p.Ile685Met)
NM_007186.6(CEP250):c.2094+16G>A
NM_007186.6(CEP250):c.2095-16A>G
NM_007186.6(CEP250):c.2098C>T (p.Arg700Cys)
NM_007186.6(CEP250):c.2113G>T (p.Ala705Ser)
NM_007186.6(CEP250):c.2118C>T (p.Ala706=)
NM_007186.6(CEP250):c.2141A>G (p.His714Arg) rs2146875731
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter) rs1051944154
NM_007186.6(CEP250):c.2163A>G (p.Glu721=) rs2146876211
NM_007186.6(CEP250):c.2168T>C (p.Val723Ala) rs2146876292
NM_007186.6(CEP250):c.2199C>T (p.Ala733=)
NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
NM_007186.6(CEP250):c.2231G>A (p.Arg744Gln) rs993542561
NM_007186.6(CEP250):c.2239G>T (p.Ala747Ser)
NM_007186.6(CEP250):c.2241C>T (p.Ala747=)
NM_007186.6(CEP250):c.2259G>A (p.Gln753=)
NM_007186.6(CEP250):c.2263C>T (p.Leu755Phe) rs745788644
NM_007186.6(CEP250):c.2283G>A (p.Gly761=)
NM_007186.6(CEP250):c.2288+13C>T
NM_007186.6(CEP250):c.2288+2T>C
NM_007186.6(CEP250):c.2288+7C>T rs2146879072
NM_007186.6(CEP250):c.2288+9C>G rs754348414
NM_007186.6(CEP250):c.2289-15del rs766236201
NM_007186.6(CEP250):c.2289-7del
NM_007186.6(CEP250):c.228G>A (p.Arg76=)
NM_007186.6(CEP250):c.228G>T (p.Arg76=) rs780891583
NM_007186.6(CEP250):c.2311A>G (p.Ser771Gly) rs2146882443
NM_007186.6(CEP250):c.2314A>T (p.Ser772Cys) rs2146882478
NM_007186.6(CEP250):c.2347A>G (p.Ile783Val)
NM_007186.6(CEP250):c.2355C>T (p.Val785=) rs772770258
NM_007186.6(CEP250):c.2361G>A (p.Lys787=) rs2146883155
NM_007186.6(CEP250):c.2383C>T (p.Gln795Ter) rs2063287444
NM_007186.6(CEP250):c.2388dup (p.Val797fs) rs1398367764
NM_007186.6(CEP250):c.2391C>G (p.Val797=) rs111853969
NM_007186.6(CEP250):c.2394T>C (p.Thr798=) rs2146883828
NM_007186.6(CEP250):c.2416+16G>C rs2063290453
NM_007186.6(CEP250):c.2417-6T>C rs2146887406
NM_007186.6(CEP250):c.2417-8C>T rs2063298136
NM_007186.6(CEP250):c.2419G>C (p.Glu807Gln) rs1273285674
NM_007186.6(CEP250):c.2421A>G (p.Glu807=)
NM_007186.6(CEP250):c.2423T>C (p.Val808Ala)
NM_007186.6(CEP250):c.242G>C (p.Gly81Ala) rs2062807673
NM_007186.6(CEP250):c.243+12T>C
NM_007186.6(CEP250):c.2432T>C (p.Leu811Pro) rs2146887824
NM_007186.6(CEP250):c.2433G>A (p.Leu811=)
NM_007186.6(CEP250):c.244-10_244-7del rs745507564
NM_007186.6(CEP250):c.244-4G>T
NM_007186.6(CEP250):c.244-5C>T rs933523233
NM_007186.6(CEP250):c.24G>A (p.Leu8=) rs2146670881
NM_007186.6(CEP250):c.2512del (p.Gln838fs)
NM_007186.6(CEP250):c.2548G>A (p.Ala850Thr) rs2063303331
NM_007186.6(CEP250):c.255C>A (p.Pro85=)
NM_007186.6(CEP250):c.255C>T (p.Pro85=) rs558154821
NM_007186.6(CEP250):c.2564dup (p.Asn856fs)
NM_007186.6(CEP250):c.2566A>G (p.Asn856Asp) rs770616514
NM_007186.6(CEP250):c.256C>G (p.Gln86Glu)
NM_007186.6(CEP250):c.2572C>A (p.Leu858Ile) rs1193178090
NM_007186.6(CEP250):c.2576G>A (p.Arg859Gln) rs372990292
NM_007186.6(CEP250):c.2576G>C (p.Arg859Pro) rs372990292
NM_007186.6(CEP250):c.2586+12A>G rs764076037
NM_007186.6(CEP250):c.2586+12A>T rs764076037
NM_007186.6(CEP250):c.2587-14C>T
NM_007186.6(CEP250):c.2587-18T>C rs2147032893
NM_007186.6(CEP250):c.2596C>T (p.Arg866Cys) rs773558951
NM_007186.6(CEP250):c.2604G>C (p.Trp868Cys) rs2147033410
NM_007186.6(CEP250):c.2609A>G (p.Gln870Arg)
NM_007186.6(CEP250):c.263G>A (p.Trp88Ter) rs2062862935
NM_007186.6(CEP250):c.2644A>C (p.Arg882=)
NM_007186.6(CEP250):c.2647del (p.Glu883fs)
NM_007186.6(CEP250):c.2654T>C (p.Met885Thr)
NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)
NM_007186.6(CEP250):c.2659C>T (p.Leu887=)
NM_007186.6(CEP250):c.2670G>A (p.Arg890=) rs202083231
NM_007186.6(CEP250):c.2680C>G (p.Gln894Glu)
NM_007186.6(CEP250):c.2707G>A (p.Ala903Thr) rs2063664563
NM_007186.6(CEP250):c.273G>A (p.Val91=)
NM_007186.6(CEP250):c.274G>A (p.Glu92Lys) rs2146703704
NM_007186.6(CEP250):c.2755-14dup rs755773363
NM_007186.6(CEP250):c.2755-15C>G rs1417814109
NM_007186.6(CEP250):c.2755-15C>T rs1417814109
NM_007186.6(CEP250):c.2755-16C>T rs578203793
NM_007186.6(CEP250):c.2773_2775del (p.Lys925del) rs779686566
NM_007186.6(CEP250):c.2793G>A (p.Leu931=)
NM_007186.6(CEP250):c.2805G>A (p.Leu935=)
NM_007186.6(CEP250):c.2811G>C (p.Thr937=) rs749494768
NM_007186.6(CEP250):c.2828A>G (p.Asp943Gly)
NM_007186.6(CEP250):c.2832C>T (p.Ala944=) rs892813256
NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter) rs1388902455
NM_007186.6(CEP250):c.2849G>A (p.Arg950Gln)
NM_007186.6(CEP250):c.2863A>G (p.Met955Val) rs1462652214
NM_007186.6(CEP250):c.2867A>G (p.Lys956Arg) rs2063685156
NM_007186.6(CEP250):c.2889+11_2889+19del rs1205987559
NM_007186.6(CEP250):c.2889+17C>T
NM_007186.6(CEP250):c.2889+7A>C
NM_007186.6(CEP250):c.2890-17T>G
NM_007186.6(CEP250):c.2890-2A>G rs2063751607
NM_007186.6(CEP250):c.2890-4T>C rs759259666
NM_007186.6(CEP250):c.2902A>T (p.Ile968Leu)
NM_007186.6(CEP250):c.2912C>T (p.Thr971Ile) rs569960675
NM_007186.6(CEP250):c.2913C>T (p.Thr971=) rs750943379
NM_007186.6(CEP250):c.2930A>G (p.Gln977Arg)
NM_007186.6(CEP250):c.2931A>G (p.Gln977=)
NM_007186.6(CEP250):c.2971C>T (p.Leu991Phe)
NM_007186.6(CEP250):c.2986del (p.Glu996fs) rs2147070761
NM_007186.6(CEP250):c.2992A>G (p.Ser998Gly)
NM_007186.6(CEP250):c.3003G>A (p.Leu1001=)
NM_007186.6(CEP250):c.3011A>T (p.Asp1004Val) rs2147071095
NM_007186.6(CEP250):c.3022C>T (p.Leu1008=)
NM_007186.6(CEP250):c.3033+10T>C rs2147071493
NM_007186.6(CEP250):c.3033+11C>T
NM_007186.6(CEP250):c.3033+12C>G
NM_007186.6(CEP250):c.3033+20C>G rs2147071666
NM_007186.6(CEP250):c.3034-14C>T
NM_007186.6(CEP250):c.3034-15C>T
NM_007186.6(CEP250):c.3036G>A (p.Val1012=) rs2063782716
NM_007186.6(CEP250):c.303C>T (p.Val101=)
NM_007186.6(CEP250):c.3060G>C (p.Val1020=)
NM_007186.6(CEP250):c.3073T>A (p.Ser1025Thr) rs1228969350
NM_007186.6(CEP250):c.3073T>C (p.Ser1025Pro)
NM_007186.6(CEP250):c.3090G>A (p.Glu1030=)
NM_007186.6(CEP250):c.30C>A (p.Asn10Lys)
NM_007186.6(CEP250):c.30C>T (p.Asn10=)
NM_007186.6(CEP250):c.3106A>C (p.Lys1036Gln) rs2147080542
NM_007186.6(CEP250):c.3108G>A (p.Lys1036=)
NM_007186.6(CEP250):c.3115G>A (p.Glu1039Lys) rs2063785497
NM_007186.6(CEP250):c.3123G>A (p.Gln1041=)
NM_007186.6(CEP250):c.3126G>A (p.Glu1042=) rs2063785888
NM_007186.6(CEP250):c.3133C>T (p.Arg1045Ter)
NM_007186.6(CEP250):c.3134G>T (p.Arg1045Leu) rs763406705
NM_007186.6(CEP250):c.3167+15C>A
NM_007186.6(CEP250):c.3167+18T>C rs2147081561
NM_007186.6(CEP250):c.3167+2T>C rs910609696
NM_007186.6(CEP250):c.3167+5G>T rs903593294
NM_007186.6(CEP250):c.3168-14C>T
NM_007186.6(CEP250):c.3177= (p.Leu1059=)
NM_007186.6(CEP250):c.3178_3179del (p.Ser1060fs)
NM_007186.6(CEP250):c.3188A>C (p.Glu1063Ala) rs2147097201
NM_007186.6(CEP250):c.3192G>T (p.Lys1064Asn) rs759385715
NM_007186.6(CEP250):c.3202C>A (p.Leu1068Ile)
NM_007186.6(CEP250):c.3208G>A (p.Val1070Ile)
NM_007186.6(CEP250):c.320A>G (p.Gln107Arg) rs2062864788
NM_007186.6(CEP250):c.3228T>C (p.Ser1076=) rs2147097468
NM_007186.6(CEP250):c.3230T>G (p.Ile1077Ser) rs2147097528
NM_007186.6(CEP250):c.3232C>A (p.Arg1078=)
NM_007186.6(CEP250):c.3233G>A (p.Arg1078Gln)
NM_007186.6(CEP250):c.3251C>T (p.Ala1084Val) rs2063843479
NM_007186.6(CEP250):c.3254T>C (p.Leu1085Pro) rs2063843633
NM_007186.6(CEP250):c.326+10C>T
NM_007186.6(CEP250):c.327-15C>A
NM_007186.6(CEP250):c.327-9C>G
NM_007186.6(CEP250):c.3272A>G (p.Glu1091Gly) rs763959807
NM_007186.6(CEP250):c.3273G>A (p.Glu1091=) rs2147098083
NM_007186.6(CEP250):c.3275C>T (p.Ala1092Val)
NM_007186.6(CEP250):c.3278A>G (p.Gln1093Arg)
NM_007186.6(CEP250):c.327G>A (p.Arg109=) rs753546802
NM_007186.6(CEP250):c.3285A>G (p.Glu1095=) rs2147098139
NM_007186.6(CEP250):c.3292G>C (p.Glu1098Gln) rs917053719
NM_007186.6(CEP250):c.3306+19A>G rs779431510
NM_007186.6(CEP250):c.3306+5T>C
NM_007186.6(CEP250):c.3316C>T (p.Leu1106=)
NM_007186.6(CEP250):c.3321G>A (p.Arg1107=) rs2063880814
NM_007186.6(CEP250):c.3349T>A (p.Phe1117Ile) rs2147106362
NM_007186.6(CEP250):c.3351T>C (p.Phe1117=) rs2063882004
NM_007186.6(CEP250):c.3354G>A (p.Leu1118=) rs2147106409
NM_007186.6(CEP250):c.3366A>G (p.Ala1122=)
NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer) rs2146707223
NM_007186.6(CEP250):c.3389C>A (p.Ala1130Glu)
NM_007186.6(CEP250):c.3390G>C (p.Ala1130=)
NM_007186.6(CEP250):c.3402G>A (p.Thr1134=) rs140984394
NM_007186.6(CEP250):c.3402G>C (p.Thr1134=) rs140984394
NM_007186.6(CEP250):c.3427T>C (p.Trp1143Arg)
NM_007186.6(CEP250):c.3458A>C (p.Gln1153Pro)
NM_007186.6(CEP250):c.3468G>T (p.Leu1156=) rs761547955
NM_007186.6(CEP250):c.3476C>G (p.Thr1159Arg)
NM_007186.6(CEP250):c.3481A>G (p.Ser1161Gly)
NM_007186.6(CEP250):c.3485A>C (p.Gln1162Pro) rs2063888648
NM_007186.6(CEP250):c.3494C>T (p.Ala1165Val) rs754433427
NM_007186.6(CEP250):c.3495G>A (p.Ala1165=) rs764615392
NM_007186.6(CEP250):c.3523C>A (p.Gln1175Lys) rs138159510
NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2]) rs561035032
NM_007186.6(CEP250):c.3526GCCCAG[4] (p.1176AQ[4]) rs561035032
NM_007186.6(CEP250):c.3528C>T (p.Ala1176=)
NM_007186.6(CEP250):c.3539C>T (p.Ala1180Val) rs2147109279
NM_007186.6(CEP250):c.3544C>G (p.Leu1182Val)
NM_007186.6(CEP250):c.3547G>A (p.Ala1183Thr) rs1410810070
NM_007186.6(CEP250):c.3557A>G (p.Tyr1186Cys)
NM_007186.6(CEP250):c.3580G>C (p.Gly1194Arg)
NM_007186.6(CEP250):c.3604G>A (p.Glu1202Lys)
NM_007186.6(CEP250):c.3604_3605delinsAT (p.Glu1202Met) rs2147110130
NM_007186.6(CEP250):c.3605A>T (p.Glu1202Val)
NM_007186.6(CEP250):c.3616G>C (p.Gly1206Arg) rs377013576
NM_007186.6(CEP250):c.3616G>T (p.Gly1206Trp) rs377013576
NM_007186.6(CEP250):c.362G>A (p.Arg121Gln)
NM_007186.6(CEP250):c.3644G>C (p.Gly1215Ala) rs748340283
NM_007186.6(CEP250):c.3655+17A>G rs771275907
NM_007186.6(CEP250):c.3656-14C>T rs1275260872
NM_007186.6(CEP250):c.3656-15T>C
NM_007186.6(CEP250):c.3656-1G>A
NM_007186.6(CEP250):c.3656-4dup
NM_007186.6(CEP250):c.3659A>G (p.Gln1220Arg) rs2063913597
NM_007186.6(CEP250):c.366G>A (p.Leu122=)
NM_007186.6(CEP250):c.3671G>A (p.Arg1224Lys) rs748250345
NM_007186.6(CEP250):c.3688G>A (p.Gly1230Arg)
NM_007186.6(CEP250):c.3690G>A (p.Gly1230=) rs2063915065
NM_007186.6(CEP250):c.369C>T (p.His123=)
NM_007186.6(CEP250):c.3700A>T (p.Thr1234Ser)
NM_007186.6(CEP250):c.370A>T (p.Met124Leu) rs750893887
NM_007186.6(CEP250):c.3710C>T (p.Ser1237Phe)
NM_007186.6(CEP250):c.3712G>A (p.Ala1238Thr) rs375032151
NM_007186.6(CEP250):c.3713C>T (p.Ala1238Val) rs6088868
NM_007186.6(CEP250):c.3718G>A (p.Ala1240Thr)
NM_007186.6(CEP250):c.3730G>C (p.Ala1244Pro)
NM_007186.6(CEP250):c.3733C>T (p.Leu1245Phe) rs2063916855
NM_007186.6(CEP250):c.3746A>G (p.His1249Arg) rs1184853425
NM_007186.6(CEP250):c.3747T>C (p.His1249=)
NM_007186.6(CEP250):c.3753C>G (p.Asp1251Glu) rs1159154873
NM_007186.6(CEP250):c.3773_3777del (p.Thr1258fs)
NM_007186.6(CEP250):c.3774C>G (p.Thr1258=)
NM_007186.6(CEP250):c.3774C>T (p.Thr1258=)
NM_007186.6(CEP250):c.3778-13C>T
NM_007186.6(CEP250):c.3778-19C>T
NM_007186.6(CEP250):c.3778-7T>C
NM_007186.6(CEP250):c.3784C>T (p.Leu1262=)
NM_007186.6(CEP250):c.3787A>C (p.Arg1263=)
NM_007186.6(CEP250):c.3849C>T (p.Val1283=)
NM_007186.6(CEP250):c.3858G>T (p.Glu1286Asp) rs2147127645
NM_007186.6(CEP250):c.385G>A (p.Val129Met)
NM_007186.6(CEP250):c.387G>A (p.Val129=)
NM_007186.6(CEP250):c.3880C>T (p.Leu1294Phe)
NM_007186.6(CEP250):c.3885C>T (p.Ser1295=) rs1217813282
NM_007186.6(CEP250):c.3898+19G>T
NM_007186.6(CEP250):c.3898+2T>C
NM_007186.6(CEP250):c.3898+9C>T rs1036046896
NM_007186.6(CEP250):c.3899-14CT[4] rs145805757
NM_007186.6(CEP250):c.3899-15C>G rs2147141607
NM_007186.6(CEP250):c.3899-19C>T
NM_007186.6(CEP250):c.3905C>T (p.Ser1302Phe)
NM_007186.6(CEP250):c.3906= (p.Ser1302=)
NM_007186.6(CEP250):c.3912G>A (p.Trp1304Ter)
NM_007186.6(CEP250):c.3916G>A (p.Gly1306Arg)
NM_007186.6(CEP250):c.3917G>A (p.Gly1306Glu) rs2064014614
NM_007186.6(CEP250):c.3931C>T (p.Leu1311=) rs765203693
NM_007186.6(CEP250):c.3940G>C (p.Glu1314Gln) rs2147142358
NM_007186.6(CEP250):c.3944T>A (p.Leu1315Gln)
NM_007186.6(CEP250):c.3944T>G (p.Leu1315Arg) rs377363665
NM_007186.6(CEP250):c.3948G>A (p.Met1316Ile)
NM_007186.6(CEP250):c.3952C>T (p.Leu1318=) rs2147142526
NM_007186.6(CEP250):c.3965T>C (p.Met1322Thr) rs1048988389
NM_007186.6(CEP250):c.3966G>A (p.Met1322Ile)
NM_007186.6(CEP250):c.3985C>T (p.Leu1329=) rs2147143146
NM_007186.6(CEP250):c.3987G>C (p.Leu1329=)
NM_007186.6(CEP250):c.4004A>G (p.Gln1335Arg) rs1402828809
NM_007186.6(CEP250):c.4017C>G (p.Ala1339=)
NM_007186.6(CEP250):c.4020+14G>A
NM_007186.6(CEP250):c.4020+9G>A
NM_007186.6(CEP250):c.4021-10T>C
NM_007186.6(CEP250):c.4021-11T>G
NM_007186.6(CEP250):c.4021-12C>G rs2147146966
NM_007186.6(CEP250):c.4021-13T>C rs1340368367
NM_007186.6(CEP250):c.4021-17T>A
NM_007186.6(CEP250):c.4021-6T>G
NM_007186.6(CEP250):c.4021-9G>A
NM_007186.6(CEP250):c.4021-9_4021-5del rs568360865
NM_007186.6(CEP250):c.4024G>A (p.Glu1342Lys) rs2064032915
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter) rs774612231
NM_007186.6(CEP250):c.402T>C (p.Leu134=)
NM_007186.6(CEP250):c.4043C>A (p.Ala1348Glu) rs1464043042
NM_007186.6(CEP250):c.4056C>A (p.Asn1352Lys) rs1020843458
NM_007186.6(CEP250):c.4056C>T (p.Asn1352=)
NM_007186.6(CEP250):c.405G>A (p.Arg135=) rs2146708003
NM_007186.6(CEP250):c.4062A>T (p.Thr1354=)
NM_007186.6(CEP250):c.4078C>G (p.Leu1360Val)
NM_007186.6(CEP250):c.4080G>A (p.Leu1360=)
NM_007186.6(CEP250):c.4087G>A (p.Ala1363Thr)
NM_007186.6(CEP250):c.4092C>A (p.Val1364=) rs149222052
NM_007186.6(CEP250):c.4092C>T (p.Val1364=) rs149222052
NM_007186.6(CEP250):c.4093G>A (p.Val1365Ile) rs780905570
NM_007186.6(CEP250):c.4100C>T (p.Ala1367Val) rs1382731258
NM_007186.6(CEP250):c.4113A>T (p.Ala1371=)
NM_007186.6(CEP250):c.4120G>A (p.Ala1374Thr)
NM_007186.6(CEP250):c.4140C>T (p.Asp1380=)
NM_007186.6(CEP250):c.4153C>T (p.Arg1385Cys)
NM_007186.6(CEP250):c.4174A>G (p.Asn1392Asp)
NM_007186.6(CEP250):c.4180G>C (p.Glu1394Gln)
NM_007186.6(CEP250):c.4192G>A (p.Glu1398Lys) rs1462991376
NM_007186.6(CEP250):c.4193A>G (p.Glu1398Gly)
NM_007186.6(CEP250):c.4196G>C (p.Arg1399Pro) rs772173920
NM_007186.6(CEP250):c.4202G>C (p.Arg1401Thr) rs2147149764
NM_007186.6(CEP250):c.4205C>T (p.Ala1402Val) rs2147149811
NM_007186.6(CEP250):c.4208A>C (p.Gln1403Pro)
NM_007186.6(CEP250):c.4228G>A (p.Glu1410Lys)
NM_007186.6(CEP250):c.4251G>A (p.Lys1417=)
NM_007186.6(CEP250):c.4253C>G (p.Ala1418Gly)
NM_007186.6(CEP250):c.4253C>T (p.Ala1418Val)
NM_007186.6(CEP250):c.4259A>T (p.Gln1420Leu) rs2064042982
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs) rs2064043746
NM_007186.6(CEP250):c.4291G>C (p.Ala1431Pro)
NM_007186.6(CEP250):c.4298G>C (p.Arg1433Thr) rs907049229
NM_007186.6(CEP250):c.4311G>A (p.Val1437=)
NM_007186.6(CEP250):c.4321C>G (p.Arg1441Gly) rs533821058
NM_007186.6(CEP250):c.4325G>C (p.Gly1442Ala)
NM_007186.6(CEP250):c.4346A>G (p.Lys1449Arg) rs531936866
NM_007186.6(CEP250):c.434G>A (p.Trp145Ter)
NM_007186.6(CEP250):c.4353G>A (p.Arg1451=) rs1216657994
NM_007186.6(CEP250):c.4365G>A (p.Lys1455=)
NM_007186.6(CEP250):c.4388_4389del (p.Leu1463fs) rs2064048389
NM_007186.6(CEP250):c.439del (p.Arg147fs)
NM_007186.6(CEP250):c.4413G>A (p.Glu1471=) rs1247320008
NM_007186.6(CEP250):c.4420C>A (p.Leu1474Met) rs1057169190
NM_007186.6(CEP250):c.4437T>A (p.Ile1479=) rs2147152254
NM_007186.6(CEP250):c.4447del (p.Glu1483fs)
NM_007186.6(CEP250):c.4449G>A (p.Glu1483=)
NM_007186.6(CEP250):c.4460C>G (p.Ser1487Cys) rs1162080589
NM_007186.6(CEP250):c.4475T>G (p.Leu1492Arg)
NM_007186.6(CEP250):c.4476G>A (p.Leu1492=)
NM_007186.6(CEP250):c.447G>A (p.Arg149=) rs2146708499
NM_007186.6(CEP250):c.4486G>A (p.Val1496Ile)
NM_007186.6(CEP250):c.4486G>T (p.Val1496Phe)
NM_007186.6(CEP250):c.4488C>A (p.Val1496=) rs755041741
NM_007186.6(CEP250):c.4489del (p.Gln1497fs)
NM_007186.6(CEP250):c.4495C>T (p.Arg1499Ter)
NM_007186.6(CEP250):c.4497A>G (p.Arg1499=) rs930625705
NM_007186.6(CEP250):c.4500G>A (p.Glu1500=)
NM_007186.6(CEP250):c.4514_4515del (p.Val1505fs)
NM_007186.6(CEP250):c.4522G>C (p.Glu1508Gln) rs1270550943
NM_007186.6(CEP250):c.4539C>T (p.Leu1513=)
NM_007186.6(CEP250):c.4545G>C (p.Lys1515Asn)
NM_007186.6(CEP250):c.4547A>T (p.Asp1516Val) rs1568832361
NM_007186.6(CEP250):c.454C>T (p.Leu152=)
NM_007186.6(CEP250):c.4550G>A (p.Arg1517Gln)
NM_007186.6(CEP250):c.4577A>T (p.His1526Leu) rs2147154151
NM_007186.6(CEP250):c.4587A>C (p.Leu1529=) rs2147154242
NM_007186.6(CEP250):c.4602A>G (p.Lys1534=)
NM_007186.6(CEP250):c.4639G>A (p.Asp1547Asn) rs1470874110
NM_007186.6(CEP250):c.4656G>A (p.Leu1552=) rs2147154961
NM_007186.6(CEP250):c.4672C>T (p.Leu1558=) rs757548288
NM_007186.6(CEP250):c.467A>G (p.Glu156Gly)
NM_007186.6(CEP250):c.4685T>C (p.Leu1562Pro) rs2147155251
NM_007186.6(CEP250):c.468G>A (p.Glu156=)
NM_007186.6(CEP250):c.4697A>G (p.His1566Arg) rs371083759
NM_007186.6(CEP250):c.4700A>T (p.His1567Leu)
NM_007186.6(CEP250):c.4716G>A (p.Gln1572=)
NM_007186.6(CEP250):c.4723C>T (p.Leu1575=)
NM_007186.6(CEP250):c.4725G>C (p.Leu1575=) rs2147155615
NM_007186.6(CEP250):c.4762G>C (p.Val1588Leu) rs144589737
NM_007186.6(CEP250):c.4783C>T (p.Leu1595=) rs2064066617
NM_007186.6(CEP250):c.4815G>A (p.Gln1605=)
NM_007186.6(CEP250):c.4816G>A (p.Ala1606Thr) rs2147156541
NM_007186.6(CEP250):c.4834C>T (p.His1612Tyr)
NM_007186.6(CEP250):c.4850A>T (p.His1617Leu) rs1042185077
NM_007186.6(CEP250):c.4858G>A (p.Val1620Ile)
NM_007186.6(CEP250):c.4872G>C (p.Glu1624Asp)
NM_007186.6(CEP250):c.4876C>T (p.Gln1626Ter)
NM_007186.6(CEP250):c.4880A>G (p.Glu1627Gly) rs775392138
NM_007186.6(CEP250):c.4893G>A (p.Glu1631=) rs2147157407
NM_007186.6(CEP250):c.4895T>C (p.Val1632Ala) rs370432289
NM_007186.6(CEP250):c.4895T>G (p.Val1632Gly) rs370432289
NM_007186.6(CEP250):c.4895_4897dup (p.Val1632_Lys1633insMet) rs1427535451
NM_007186.6(CEP250):c.4899G>A (p.Lys1633=)
NM_007186.6(CEP250):c.4907G>A (p.Arg1636Gln)
NM_007186.6(CEP250):c.492+11C>T
NM_007186.6(CEP250):c.492+7A>C
NM_007186.6(CEP250):c.492+7A>G
NM_007186.6(CEP250):c.493-10G>A
NM_007186.6(CEP250):c.493-2A>G rs1276900541
NM_007186.6(CEP250):c.493-62T>C rs2296402
NM_007186.6(CEP250):c.4941G>C (p.Glu1647Asp)
NM_007186.6(CEP250):c.4944T>G (p.His1648Gln)
NM_007186.6(CEP250):c.4948A>C (p.Thr1650Pro)
NM_007186.6(CEP250):c.4952A>G (p.Gln1651Arg) rs2147158137
NM_007186.6(CEP250):c.4959C>G (p.Leu1653=) rs1198658920
NM_007186.6(CEP250):c.4978C>A (p.Leu1660Met) rs551222580
NM_007186.6(CEP250):c.4981A>G (p.Met1661Val)
NM_007186.6(CEP250):c.4990_4992del (p.Lys1664del) rs1451798723
NM_007186.6(CEP250):c.4993G>A (p.Glu1665Lys) rs2064074772
NM_007186.6(CEP250):c.5010C>T (p.Leu1670=) rs200762282
NM_007186.6(CEP250):c.5014G>C (p.Asp1672His)
NM_007186.6(CEP250):c.5034C>T (p.Thr1678=)
NM_007186.6(CEP250):c.504C>T (p.Gly168=)
NM_007186.6(CEP250):c.5050del (p.Asp1684fs) rs2064077764
NM_007186.6(CEP250):c.5064C>T (p.Ile1688=)
NM_007186.6(CEP250):c.5073C>A (p.Ser1691=) rs369241635
NM_007186.6(CEP250):c.5082G>A (p.Glu1694=) rs1193568340
NM_007186.6(CEP250):c.5090G>A (p.Arg1697Gln) rs142095721
NM_007186.6(CEP250):c.5090G>C (p.Arg1697Pro) rs142095721
NM_007186.6(CEP250):c.5091G>A (p.Arg1697=)
NM_007186.6(CEP250):c.5092G>A (p.Glu1698Lys) rs2064079583
NM_007186.6(CEP250):c.5105dup (p.Arg1703fs)
NM_007186.6(CEP250):c.5107A>T (p.Arg1703Trp) rs1293253583
NM_007186.6(CEP250):c.5137G>A (p.Gly1713Arg)
NM_007186.6(CEP250):c.513A>G (p.Lys171=)
NM_007186.6(CEP250):c.5142G>A (p.Lys1714=)
NM_007186.6(CEP250):c.5145C>G (p.Gly1715=)
NM_007186.6(CEP250):c.5152A>G (p.Lys1718Glu) rs2064082273
NM_007186.6(CEP250):c.5156C>A (p.Ala1719Glu) rs2147160852
NM_007186.6(CEP250):c.5163C>T (p.Arg1721=)
NM_007186.6(CEP250):c.5168G>A (p.Ser1723Asn) rs2064083389
NM_007186.6(CEP250):c.5172A>G (p.Leu1724=)
NM_007186.6(CEP250):c.51G>C (p.Gln17His)
NM_007186.6(CEP250):c.5203_5205del (p.Glu1735del) rs781105474
NM_007186.6(CEP250):c.5206_5208del (p.Lys1736del)
NM_007186.6(CEP250):c.5238T>C (p.His1746=)
NM_007186.6(CEP250):c.5238T>G (p.His1746Gln) rs967779006
NM_007186.6(CEP250):c.5248G>A (p.Glu1750Lys) rs377467825
NM_007186.6(CEP250):c.5256A>G (p.Lys1752=) rs1325527895
NM_007186.6(CEP250):c.5265G>C (p.Leu1755=)
NM_007186.6(CEP250):c.526C>T (p.Arg176Cys)
NM_007186.6(CEP250):c.5279A>T (p.Gln1760Leu) rs757335817
NM_007186.6(CEP250):c.5299G>A (p.Gly1767Ser) rs2147162790
NM_007186.6(CEP250):c.5307C>T (p.Thr1769=) rs2147162940
NM_007186.6(CEP250):c.5312T>G (p.Leu1771Arg)
NM_007186.6(CEP250):c.5313C>T (p.Leu1771=)
NM_007186.6(CEP250):c.5314C>T (p.Leu1772Phe)
NM_007186.6(CEP250):c.5327G>A (p.Arg1776Gln)
NM_007186.6(CEP250):c.5347C>G (p.Leu1783Val) rs2064092223
NM_007186.6(CEP250):c.5349G>A (p.Leu1783=) rs373516283
NM_007186.6(CEP250):c.536G>T (p.Ser179Ile)
NM_007186.6(CEP250):c.5370C>G (p.Ala1790=)
NM_007186.6(CEP250):c.5370del (p.Arg1791fs)
NM_007186.6(CEP250):c.5375A>G (p.Glu1792Gly)
NM_007186.6(CEP250):c.5382G>A (p.Gly1794=)
NM_007186.6(CEP250):c.5383dup (p.Glu1795fs) rs2064092893
NM_007186.6(CEP250):c.539T>C (p.Leu180Pro) rs1434033246
NM_007186.6(CEP250):c.5401C>T (p.Leu1801Phe) rs2147163818
NM_007186.6(CEP250):c.5413C>G (p.Leu1805Val)
NM_007186.6(CEP250):c.5415G>A (p.Leu1805=)
NM_007186.6(CEP250):c.5417A>G (p.Asp1806Gly)
NM_007186.6(CEP250):c.5431G>A (p.Ala1811Thr)
NM_007186.6(CEP250):c.544C>A (p.Arg182=)
NM_007186.6(CEP250):c.5454A>G (p.Glu1818=) rs2147164415
NM_007186.6(CEP250):c.5477A>G (p.Gln1826Arg)
NM_007186.6(CEP250):c.5481G>A (p.Gln1827=)
NM_007186.6(CEP250):c.548A>T (p.Glu183Val)
NM_007186.6(CEP250):c.5500del (p.Glu1834fs) rs2147164893
NM_007186.6(CEP250):c.5507T>C (p.Val1836Ala) rs1601301034
NM_007186.6(CEP250):c.5513A>G (p.Glu1838Gly)
NM_007186.6(CEP250):c.5524G>A (p.Ala1842Thr)
NM_007186.6(CEP250):c.5529C>T (p.Leu1843=) rs2147165269
NM_007186.6(CEP250):c.5531A>G (p.Gln1844Arg)
NM_007186.6(CEP250):c.5544G>A (p.Glu1848=)
NM_007186.6(CEP250):c.5548G>A (p.Ala1850Thr) rs2064098499
NM_007186.6(CEP250):c.5569C>T (p.Arg1857Cys)
NM_007186.6(CEP250):c.5596del (p.Glu1866fs)
NM_007186.6(CEP250):c.5606G>A (p.Arg1869Gln) rs375122917
NM_007186.6(CEP250):c.5606G>T (p.Arg1869Leu) rs375122917
NM_007186.6(CEP250):c.5625G>A (p.Leu1875=)
NM_007186.6(CEP250):c.5629G>A (p.Val1877Met) rs2147166718
NM_007186.6(CEP250):c.5659G>C (p.Glu1887Gln) rs147660483
NM_007186.6(CEP250):c.565C>T (p.Arg189Cys)
NM_007186.6(CEP250):c.5715C>T (p.Ala1905=) rs2147167911
NM_007186.6(CEP250):c.5720A>G (p.Gln1907Arg)
NM_007186.6(CEP250):c.5727G>C (p.Gln1909His) rs1316003631
NM_007186.6(CEP250):c.5770C>A (p.Leu1924Met) rs376093093
NM_007186.6(CEP250):c.5771T>C (p.Leu1924Pro)
NM_007186.6(CEP250):c.5793C>A (p.Ala1931=)
NM_007186.6(CEP250):c.5798C>A (p.Ala1933Glu) rs116637219
NM_007186.6(CEP250):c.5798C>T (p.Ala1933Val) rs116637219
NM_007186.6(CEP250):c.5799A>C (p.Ala1933=)
NM_007186.6(CEP250):c.5813G>T (p.Arg1938Leu) rs767687865
NM_007186.6(CEP250):c.5835G>A (p.Leu1945=)
NM_007186.6(CEP250):c.5849A>T (p.Gln1950Leu)
NM_007186.6(CEP250):c.5865G>A (p.Gln1955=)
NM_007186.6(CEP250):c.5877C>T (p.Ala1959=)
NM_007186.6(CEP250):c.5882C>G (p.Ala1961Gly) rs1036530132
NM_007186.6(CEP250):c.5886G>A (p.Arg1962=)
NM_007186.6(CEP250):c.5896C>T (p.Leu1966=)
NM_007186.6(CEP250):c.58C>T (p.Leu20=) rs1391330529
NM_007186.6(CEP250):c.5913C>G (p.Gly1971=)
NM_007186.6(CEP250):c.5918C>T (p.Ala1973Val)
NM_007186.6(CEP250):c.5919T>A (p.Ala1973=)
NM_007186.6(CEP250):c.5921A>T (p.His1974Leu) rs374754443
NM_007186.6(CEP250):c.5952C>T (p.Leu1984=)
NM_007186.6(CEP250):c.5958G>A (p.Glu1986=) rs1466836464
NM_007186.6(CEP250):c.5969T>A (p.Leu1990Ter)
NM_007186.6(CEP250):c.596A>G (p.Asp199Gly)
NM_007186.6(CEP250):c.5975G>T (p.Arg1992Leu) rs760800311
NM_007186.6(CEP250):c.5979T>C (p.Ser1993=)
NM_007186.6(CEP250):c.597C>G (p.Asp199Glu) rs769497701
NM_007186.6(CEP250):c.599+10G>A
NM_007186.6(CEP250):c.599+14G>T rs2033463467
NM_007186.6(CEP250):c.599+18_599+20del rs1568760924
NM_007186.6(CEP250):c.599+2T>C
NM_007186.6(CEP250):c.599+3C>A rs2146717827
NM_007186.6(CEP250):c.599+5G>A rs1162584600
NM_007186.6(CEP250):c.5997_5999del (p.Thr2000del)
NM_007186.6(CEP250):c.600-16C>T
NM_007186.6(CEP250):c.600-3C>T rs1215447362
NM_007186.6(CEP250):c.600-8G>A
NM_007186.6(CEP250):c.6009C>T (p.Ala2003=)
NM_007186.6(CEP250):c.6011C>T (p.Ser2004Phe) rs1033436914
NM_007186.6(CEP250):c.601G>T (p.Asp201Tyr)
NM_007186.6(CEP250):c.6028G>T (p.Ala2010Ser) rs1369573210
NM_007186.6(CEP250):c.6041A>C (p.Gln2014Pro)
NM_007186.6(CEP250):c.6060G>T (p.Arg2020Ser)
NM_007186.6(CEP250):c.6066A>G (p.Gln2022=) rs746967269
NM_007186.6(CEP250):c.6073G>A (p.Glu2025Lys) rs1422976842
NM_007186.6(CEP250):c.6078C>T (p.Ile2026=)
NM_007186.6(CEP250):c.6084C>G (p.Asp2028Glu) rs2147173106
NM_007186.6(CEP250):c.6094C>T (p.Arg2032Ter)
NM_007186.6(CEP250):c.6095G>A (p.Arg2032Gln)
NM_007186.6(CEP250):c.6103G>A (p.Glu2035Lys) rs1321762009
NM_007186.6(CEP250):c.6111G>A (p.Val2037=)
NM_007186.6(CEP250):c.6118C>G (p.Leu2040Val)
NM_007186.6(CEP250):c.6128C>T (p.Ala2043Val)
NM_007186.6(CEP250):c.6130C>T (p.Leu2044Phe) rs2064125410
NM_007186.6(CEP250):c.6146A>G (p.Glu2049Gly) rs2064125657
NM_007186.6(CEP250):c.6160C>T (p.Gln2054Ter) rs2147174157
NM_007186.6(CEP250):c.6171G>C (p.Arg2057=) rs2147174381
NM_007186.6(CEP250):c.6173A>T (p.Glu2058Val) rs2147174402
NM_007186.6(CEP250):c.6184G>C (p.Glu2062Gln)
NM_007186.6(CEP250):c.6186G>A (p.Glu2062=)
NM_007186.6(CEP250):c.6189G>A (p.Lys2063=) rs760033053
NM_007186.6(CEP250):c.6189G>T (p.Lys2063Asn) rs760033053
NM_007186.6(CEP250):c.6193C>T (p.Leu2065=)
NM_007186.6(CEP250):c.6256G>A (p.Glu2086Lys) rs1440375481
NM_007186.6(CEP250):c.6261G>A (p.Glu2087=)
NM_007186.6(CEP250):c.6267A>C (p.Ile2089=) rs766147776
NM_007186.6(CEP250):c.6285T>G (p.Ser2095Arg) rs1221230535
NM_007186.6(CEP250):c.628G>C (p.Val210Leu)
NM_007186.6(CEP250):c.6290G>A (p.Arg2097Lys) rs748146737
NM_007186.6(CEP250):c.6294G>A (p.Glu2098=) rs2147175819
NM_007186.6(CEP250):c.6307_6308del (p.Leu2103fs)
NM_007186.6(CEP250):c.6354A>G (p.Gln2118=)
NM_007186.6(CEP250):c.6376C>A (p.Pro2126Thr)
NM_007186.6(CEP250):c.6394T>A (p.Ser2132Thr)
NM_007186.6(CEP250):c.6397C>G (p.Pro2133Ala)
NM_007186.6(CEP250):c.6398C>T (p.Pro2133Leu) rs1452737526
NM_007186.6(CEP250):c.6406G>T (p.Glu2136Ter)
NM_007186.6(CEP250):c.6425A>G (p.Asp2142Gly)
NM_007186.6(CEP250):c.6435G>T (p.Glu2145Asp) rs904501712
NM_007186.6(CEP250):c.6436C>T (p.Pro2146Ser)
NM_007186.6(CEP250):c.6437C>G (p.Pro2146Arg) rs137874746
NM_007186.6(CEP250):c.6444G>T (p.Leu2148=)
NM_007186.6(CEP250):c.6446A>G (p.Gln2149Arg) rs2064137882
NM_007186.6(CEP250):c.6451_6462del (p.Glu2151_Arg2154del) rs779829454
NM_007186.6(CEP250):c.6460C>T (p.Arg2154Trp) rs375115331
NM_007186.6(CEP250):c.6479G>C (p.Arg2160Thr)
NM_007186.6(CEP250):c.6487_6488del (p.Glu2163fs) rs2147179056
NM_007186.6(CEP250):c.6510G>A (p.Arg2170=)
NM_007186.6(CEP250):c.6525C>T (p.Asp2175=)
NM_007186.6(CEP250):c.6532C>G (p.Leu2178Val) rs369913865
NM_007186.6(CEP250):c.6542C>G (p.Ala2181Gly) rs139681236
NM_007186.6(CEP250):c.6542C>T (p.Ala2181Val) rs139681236
NM_007186.6(CEP250):c.6556A>C (p.Ser2186Arg) rs753684828
NM_007186.6(CEP250):c.6580G>A (p.Ala2194Thr) rs750513127
NM_007186.6(CEP250):c.6584T>C (p.Met2195Thr)
NM_007186.6(CEP250):c.6585G>A (p.Met2195Ile) rs2147180433
NM_007186.6(CEP250):c.6592C>T (p.Gln2198Ter)
NM_007186.6(CEP250):c.659G>C (p.Cys220Ser)
NM_007186.6(CEP250):c.6625C>T (p.Gln2209Ter)
NM_007186.6(CEP250):c.6629G>A (p.Arg2210Lys)
NM_007186.6(CEP250):c.6636+13A>G
NM_007186.6(CEP250):c.6636+14T>C
NM_007186.6(CEP250):c.6636+15G>A
NM_007186.6(CEP250):c.6636+20G>A rs2064146742
NM_007186.6(CEP250):c.6637-11C>T
NM_007186.6(CEP250):c.6637-13C>T rs2147204010
NM_007186.6(CEP250):c.6637-9G>T
NM_007186.6(CEP250):c.6642A>G (p.Glu2214=)
NM_007186.6(CEP250):c.6659G>A (p.Arg2220Gln)
NM_007186.6(CEP250):c.665G>A (p.Arg222His) rs78174774
NM_007186.6(CEP250):c.665G>T (p.Arg222Leu) rs78174774
NM_007186.6(CEP250):c.666C>T (p.Arg222=) rs2146722313
NM_007186.6(CEP250):c.6673G>C (p.Glu2225Gln) rs955566479
NM_007186.6(CEP250):c.6677G>A (p.Arg2226Gln)
NM_007186.6(CEP250):c.6693T>G (p.Gly2231=) rs1601318835
NM_007186.6(CEP250):c.6703A>C (p.Thr2235Pro) rs769634388
NM_007186.6(CEP250):c.6709G>A (p.Glu2237Lys)
NM_007186.6(CEP250):c.6725G>T (p.Gly2242Val)
NM_007186.6(CEP250):c.6726G>A (p.Gly2242=)
NM_007186.6(CEP250):c.6736G>T (p.Val2246Leu) rs1314267186
NM_007186.6(CEP250):c.6750+18G>C
NM_007186.6(CEP250):c.6750+19G>C
NM_007186.6(CEP250):c.6751-48A>G rs116453376
NM_007186.6(CEP250):c.6766G>A (p.Ala2256Thr) rs1327426707
NM_007186.6(CEP250):c.6769G>A (p.Glu2257Lys)
NM_007186.6(CEP250):c.6787A>G (p.Met2263Val)
NM_007186.6(CEP250):c.6794A>G (p.Lys2265Arg)
NM_007186.6(CEP250):c.6798G>A (p.Gln2266=) rs145765975
NM_007186.6(CEP250):c.6826C>T (p.Gln2276Ter) rs2147208997
NM_007186.6(CEP250):c.6829C>T (p.Gln2277Ter)
NM_007186.6(CEP250):c.6865C>T (p.Leu2289=) rs2147209482
NM_007186.6(CEP250):c.6890G>A (p.Arg2297Gln)
NM_007186.6(CEP250):c.689G>A (p.Arg230Gln)
NM_007186.6(CEP250):c.6905A>G (p.Gln2302Arg) rs750911269
NM_007186.6(CEP250):c.6906+14T>G rs1289008476
NM_007186.6(CEP250):c.6906+18C>T
NM_007186.6(CEP250):c.6906+8C>A
NM_007186.6(CEP250):c.6907-2A>G
NM_007186.6(CEP250):c.6907-9C>T
NM_007186.6(CEP250):c.6919C>A (p.Arg2307=) rs915467191
NM_007186.6(CEP250):c.6920G>A (p.Arg2307Gln) rs367904996
NM_007186.6(CEP250):c.6920G>T (p.Arg2307Leu)
NM_007186.6(CEP250):c.6947G>A (p.Arg2316His) rs1395653456
NM_007186.6(CEP250):c.6949G>A (p.Ala2317Thr)
NM_007186.6(CEP250):c.6957G>A (p.Gln2319=) rs201729351
NM_007186.6(CEP250):c.6962G>T (p.Gly2321Val)
NM_007186.6(CEP250):c.6986C>T (p.Thr2329Met)
NM_007186.6(CEP250):c.6987G>A (p.Thr2329=)
NM_007186.6(CEP250):c.699C>T (p.Asn233=)
NM_007186.6(CEP250):c.7008+17C>T
NM_007186.6(CEP250):c.7008+19G>C rs2147218569
NM_007186.6(CEP250):c.7008+19dup
NM_007186.6(CEP250):c.7008+9A>G
NM_007186.6(CEP250):c.7009-16T>C
NM_007186.6(CEP250):c.7009-17C>T rs2147226706
NM_007186.6(CEP250):c.7009-4T>G
NM_007186.6(CEP250):c.7027A>G (p.Asn2343Asp) rs2064309799
NM_007186.6(CEP250):c.7033G>A (p.Asp2345Asn)
NM_007186.6(CEP250):c.7038C>T (p.Ala2346=)
NM_007186.6(CEP250):c.7043G>A (p.Cys2348Tyr) rs2147227232
NM_007186.6(CEP250):c.7051G>A (p.Glu2351Lys)
NM_007186.6(CEP250):c.7064A>C (p.Glu2355Ala) rs1455011426
NM_007186.6(CEP250):c.7065+11del
NM_007186.6(CEP250):c.7065+13T>A
NM_007186.6(CEP250):c.7065+4T>C rs2064311388
NM_007186.6(CEP250):c.7066-17T>A
NM_007186.6(CEP250):c.7066-6C>T rs2064352499
NM_007186.6(CEP250):c.7088T>G (p.Leu2363Arg) rs2147239037
NM_007186.6(CEP250):c.7099C>T (p.Arg2367Trp)
NM_007186.6(CEP250):c.7102AAGCAG[3] (p.2368KQ[3]) rs2147239155
NM_007186.6(CEP250):c.7104G>A (p.Lys2368=) rs2147239210
NM_007186.6(CEP250):c.7114G>C (p.Asp2372His)
NM_007186.6(CEP250):c.7124C>A (p.Thr2375Asn) rs1475487869
NM_007186.6(CEP250):c.7126C>A (p.Arg2376Ser) rs563013303
NM_007186.6(CEP250):c.7127G>A (p.Arg2376His) rs374274791
NM_007186.6(CEP250):c.7139C>A (p.Thr2380Asn) rs1314188429
NM_007186.6(CEP250):c.7157G>A (p.Gly2386Asp) rs2147239969
NM_007186.6(CEP250):c.7161G>A (p.Leu2387=)
NM_007186.6(CEP250):c.7173C>G (p.Leu2391=) rs549300192
NM_007186.6(CEP250):c.7182_7185del (p.Leu2396fs) rs2147240323
NM_007186.6(CEP250):c.7206T>C (p.Pro2402=)
NM_007186.6(CEP250):c.7207G>C (p.Glu2403Gln) rs2064359460
NM_007186.6(CEP250):c.7219del (p.Leu2407fs) rs2147240925
NM_007186.6(CEP250):c.722G>A (p.Arg241Gln) rs548805618
NM_007186.6(CEP250):c.7234C>A (p.Arg2412Ser) rs369255727
NM_007186.6(CEP250):c.7234C>T (p.Arg2412Cys) rs369255727
NM_007186.6(CEP250):c.7256C>A (p.Thr2419Asn) rs753961048
NM_007186.6(CEP250):c.7274C>T (p.Pro2425Leu) rs2147241556
NM_007186.6(CEP250):c.7275A>G (p.Pro2425=)
NM_007186.6(CEP250):c.7295C>T (p.Pro2432Leu)
NM_007186.6(CEP250):c.7296del (p.Ser2433fs)
NM_007186.6(CEP250):c.72G>T (p.Val24=)
NM_007186.6(CEP250):c.7305C>T (p.Ser2435=) rs1167410872
NM_007186.6(CEP250):c.7318_*87del (p.Ala2440_Ter2443del) rs2147242153
NM_007186.6(CEP250):c.7320C>T (p.Ala2440=) rs2147242305
NM_007186.6(CEP250):c.7327del (p.Ter2443SerextTer?) rs2147242379
NM_007186.6(CEP250):c.7328A>C (p.Ter2443Ser)
NM_007186.6(CEP250):c.738G>C (p.Leu246=)
NM_007186.6(CEP250):c.73C>T (p.Leu25=)
NM_007186.6(CEP250):c.747A>G (p.Leu249=) rs771729918
NM_007186.6(CEP250):c.785A>G (p.Glu262Gly) rs2146723861
NM_007186.6(CEP250):c.795G>A (p.Gln265=)
NM_007186.6(CEP250):c.823G>T (p.Asp275Tyr) rs754938655
NM_007186.6(CEP250):c.825T>C (p.Asp275=) rs778905410
NM_007186.6(CEP250):c.829G>T (p.Glu277Ter)
NM_007186.6(CEP250):c.830A>G (p.Glu277Gly) rs2062916794
NM_007186.6(CEP250):c.849C>T (p.Asp283=)
NM_007186.6(CEP250):c.851+15G>A
NM_007186.6(CEP250):c.852-3T>C rs2146751973
NM_007186.6(CEP250):c.852G>T (p.Arg284=) rs748553150
NM_007186.6(CEP250):c.871C>T (p.Leu291=) rs2146752316
NM_007186.6(CEP250):c.882G>A (p.Gln294=)
NM_007186.6(CEP250):c.884C>T (p.Ser295Phe)
NM_007186.6(CEP250):c.896A>G (p.Asn299Ser)
NM_007186.6(CEP250):c.898G>C (p.Glu300Gln)
NM_007186.6(CEP250):c.90G>C (p.Gln30His)
NM_007186.6(CEP250):c.913A>T (p.Met305Leu)
NM_007186.6(CEP250):c.916A>C (p.Ile306Leu)
NM_007186.6(CEP250):c.916A>G (p.Ile306Val) rs756960945
NM_007186.6(CEP250):c.918A>G (p.Ile306Met)
NM_007186.6(CEP250):c.935_936inv (p.Thr312Met)
NM_007186.6(CEP250):c.936A>C (p.Thr312=) rs41290918
NM_007186.6(CEP250):c.936A>G (p.Thr312=) rs41290918
NM_007186.6(CEP250):c.937G>C (p.Val313Leu)
NM_007186.6(CEP250):c.948+6T>G rs2062984834
NM_007186.6(CEP250):c.948+7G>A
NM_007186.6(CEP250):c.949-3C>T rs1252417641
NM_007186.6(CEP250):c.94dup (p.Ala32fs) rs2146671573
NM_007186.6(CEP250):c.956A>G (p.Asn319Ser)
NM_007186.6(CEP250):c.970A>G (p.Met324Val) rs2063037391
NM_007186.6(CEP250):c.977A>C (p.His326Pro)
NM_007186.6(CEP250):c.990TAG[1] (p.Ser331del) rs2063037830
NM_007186.6(CEP250):c.99G>T (p.Glu33Asp) rs1601114794

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