ClinVar Miner

List of variants in gene CEP250 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 696
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.2120C>T (p.Thr707Met) rs139645049 0.00062
NM_007186.6(CEP250):c.1462C>T (p.Arg488Cys) rs151167358 0.00051
NM_007186.6(CEP250):c.2669G>C (p.Arg890Thr) rs144024361 0.00036
NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr) rs149028062 0.00032
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.6162G>T (p.Gln2054His) rs368365512 0.00026
NM_007186.6(CEP250):c.6377C>T (p.Pro2126Leu) rs147497691 0.00024
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.1826C>T (p.Ala609Val) rs145878385 0.00020
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.5926G>T (p.Ala1976Ser) rs367908520 0.00017
NM_007186.6(CEP250):c.6841C>T (p.Arg2281Trp) rs148942784 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.4105G>A (p.Ala1369Thr) rs367939150 0.00014
NM_007186.6(CEP250):c.257A>G (p.Gln86Arg) rs116101806 0.00013
NM_007186.6(CEP250):c.3670A>G (p.Arg1224Gly) rs781293599 0.00013
NM_007186.6(CEP250):c.5119C>G (p.Gln1707Glu) rs774513754 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.5857C>T (p.Arg1953Trp) rs374682692 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.1906G>A (p.Ala636Thr) rs143216068 0.00010
NM_007186.6(CEP250):c.6872G>A (p.Arg2291His) rs143561620 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.3814C>T (p.Arg1272Cys) rs150723097 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.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.5572C>A (p.His1858Asn) rs200268845 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.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.5884C>T (p.Arg1962Trp) rs775658359 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.6400A>G (p.Met2134Val) rs199936529 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.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.1555C>T (p.Arg519Trp) rs369614541 0.00004
NM_007186.6(CEP250):c.1610A>G (p.Glu537Gly) rs760339581 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.2540A>G (p.Gln847Arg) rs771713524 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.3470G>A (p.Arg1157His) rs757635678 0.00004
NM_007186.6(CEP250):c.3517G>A (p.Gly1173Arg) rs377120249 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.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.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.6496G>A (p.Glu2166Lys) rs959584807 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.913A>G (p.Met305Val) rs146309487 0.00004
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.1980G>T (p.Lys660Asn) rs753576216 0.00003
NM_007186.6(CEP250):c.2032C>G (p.Leu678Val) rs778549244 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.3575C>A (p.Ala1192Asp) rs369355571 0.00003
NM_007186.6(CEP250):c.3581G>A (p.Gly1194Glu) rs372516061 0.00003
NM_007186.6(CEP250):c.4189A>G (p.Ser1397Gly) rs778997715 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.6392C>T (p.Thr2131Ile) rs367689715 0.00003
NM_007186.6(CEP250):c.6532C>T (p.Leu2178Phe) rs369913865 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.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.3083T>C (p.Leu1028Pro) rs116895236 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.3983G>A (p.Arg1328His) rs769794651 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.4738G>A (p.Glu1580Lys) rs762718386 0.00002
NM_007186.6(CEP250):c.5089C>T (p.Arg1697Trp) rs200384192 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.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.6270G>C (p.Arg2090Ser) rs751323505 0.00002
NM_007186.6(CEP250):c.6745G>A (p.Gly2249Arg) rs774504786 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.1115A>C (p.Asp372Ala) rs981413111 0.00001
NM_007186.6(CEP250):c.1150G>A (p.Ala384Thr) rs535076676 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.1211A>G (p.Asp404Gly) rs751646493 0.00001
NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser) rs568247716 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.1637G>A (p.Arg546Gln) rs776264848 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.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.2078A>G (p.Gln693Arg) rs375021604 0.00001
NM_007186.6(CEP250):c.2193G>C (p.Lys731Asn) rs1318845855 0.00001
NM_007186.6(CEP250):c.2248C>T (p.Arg750Cys) rs1023005712 0.00001
NM_007186.6(CEP250):c.2266G>A (p.Ala756Thr) rs143763293 0.00001
NM_007186.6(CEP250):c.2348T>C (p.Ile783Thr) rs761502389 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.2519G>C (p.Gly840Ala) rs1366448259 0.00001
NM_007186.6(CEP250):c.2531T>C (p.Leu844Ser) rs747984135 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.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.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.3134G>A (p.Arg1045Gln) rs763406705 0.00001
NM_007186.6(CEP250):c.3173C>G (p.Thr1058Ser) rs529608194 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.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.3530A>C (p.Gln1177Pro) rs554606600 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.3655+4A>T rs1446112141 0.00001
NM_007186.6(CEP250):c.3704C>T (p.Ala1235Val) rs746352904 0.00001
NM_007186.6(CEP250):c.3776G>A (p.Arg1259Gln) rs749502180 0.00001
NM_007186.6(CEP250):c.3872A>G (p.Gln1291Arg) rs1248345630 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.4040A>G (p.Gln1347Arg) rs1010390421 0.00001
NM_007186.6(CEP250):c.4075C>T (p.His1359Tyr) rs370016988 0.00001
NM_007186.6(CEP250):c.4151C>T (p.Ala1384Val) rs768983267 0.00001
NM_007186.6(CEP250):c.4435A>G (p.Ile1479Val) rs775005555 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.4841T>C (p.Leu1614Pro) rs2064068521 0.00001
NM_007186.6(CEP250):c.4858G>T (p.Val1620Phe) rs770116371 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.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.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.5542G>C (p.Glu1848Gln) rs770216974 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.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.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.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.6409C>G (p.Gln2137Glu) rs369351014 0.00001
NM_007186.6(CEP250):c.6461G>A (p.Arg2154Gln) rs1478062497 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.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.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.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.6919C>T (p.Arg2307Trp) rs915467191 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.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.791G>A (p.Ser264Asn) rs761999604 0.00001
NM_007186.6(CEP250):c.794A>T (p.Gln265Leu) rs750545272 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.986C>T (p.Ser329Phe) rs2063037729 0.00001
NC_000020.10:g.(?_34060478)_(34060676_?)del
NM_007186.6(CEP250):c.1019C>T (p.Ser340Phe)
NM_007186.6(CEP250):c.1066G>T (p.Gly356Trp) rs1461743489
NM_007186.6(CEP250):c.106G>A (p.Ala36Thr)
NM_007186.6(CEP250):c.1106T>C (p.Leu369Ser) rs2146783460
NM_007186.6(CEP250):c.1120A>T (p.Ser374Cys) rs755168706
NM_007186.6(CEP250):c.1133A>C (p.Gln378Pro)
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.123G>C (p.Lys41Asn) rs1259781044
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.1342G>A (p.Ala448Thr)
NM_007186.6(CEP250):c.1354G>A (p.Val452Met) rs2063080140
NM_007186.6(CEP250):c.1388+6C>T rs2146794851
NM_007186.6(CEP250):c.1389G>A (p.Lys463=) rs1359060727
NM_007186.6(CEP250):c.139G>A (p.Glu47Lys) rs2062777969
NM_007186.6(CEP250):c.1427G>A (p.Arg476Gln)
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.1501G>A (p.Asp501Asn) rs763828103
NM_007186.6(CEP250):c.1501G>C (p.Asp501His)
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+3_1571+6del
NM_007186.6(CEP250):c.1585A>G (p.Met529Val)
NM_007186.6(CEP250):c.1597G>A (p.Ala533Thr) rs2146821661
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.1659C>G (p.His553Gln) rs1383420557
NM_007186.6(CEP250):c.1661T>C (p.Leu554Pro)
NM_007186.6(CEP250):c.1691C>A (p.Thr564Lys)
NM_007186.6(CEP250):c.1691C>T (p.Thr564Met) rs757589095
NM_007186.6(CEP250):c.1710G>T (p.Leu570=)
NM_007186.6(CEP250):c.1716+5G>A rs2063150425
NM_007186.6(CEP250):c.1717-3del rs1470901100
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)
NM_007186.6(CEP250):c.1818G>C (p.Glu606Asp)
NM_007186.6(CEP250):c.1824G>C (p.Leu608Phe)
NM_007186.6(CEP250):c.1841G>T (p.Gly614Val)
NM_007186.6(CEP250):c.1863+3G>T
NM_007186.6(CEP250):c.1867GAG[2] (p.Glu625del) rs755726097
NM_007186.6(CEP250):c.1933G>A (p.Val645Ile) rs2146853826
NM_007186.6(CEP250):c.1936G>A (p.Asp646Asn) rs1171819903
NM_007186.6(CEP250):c.1957A>T (p.Arg653Trp)
NM_007186.6(CEP250):c.1990C>G (p.Leu664Val) rs2063222260
NM_007186.6(CEP250):c.1993G>A (p.Glu665Lys)
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.2098C>T (p.Arg700Cys)
NM_007186.6(CEP250):c.2113G>T (p.Ala705Ser)
NM_007186.6(CEP250):c.2141A>G (p.His714Arg) rs2146875731
NM_007186.6(CEP250):c.2168T>C (p.Val723Ala) rs2146876292
NM_007186.6(CEP250):c.2231G>A (p.Arg744Gln) rs993542561
NM_007186.6(CEP250):c.2239G>T (p.Ala747Ser)
NM_007186.6(CEP250):c.2263C>T (p.Leu755Phe) rs745788644
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.2417-8C>T rs2063298136
NM_007186.6(CEP250):c.2419G>C (p.Glu807Gln) rs1273285674
NM_007186.6(CEP250):c.2423T>C (p.Val808Ala)
NM_007186.6(CEP250):c.242G>C (p.Gly81Ala) rs2062807673
NM_007186.6(CEP250):c.2432T>C (p.Leu811Pro) rs2146887824
NM_007186.6(CEP250):c.2548G>A (p.Ala850Thr) rs2063303331
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.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.2654T>C (p.Met885Thr)
NM_007186.6(CEP250):c.2680C>G (p.Gln894Glu)
NM_007186.6(CEP250):c.2707G>A (p.Ala903Thr) rs2063664563
NM_007186.6(CEP250):c.274G>A (p.Glu92Lys) rs2146703704
NM_007186.6(CEP250):c.2773_2775del (p.Lys925del) rs779686566
NM_007186.6(CEP250):c.2828A>G (p.Asp943Gly)
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.2902A>T (p.Ile968Leu)
NM_007186.6(CEP250):c.2912C>T (p.Thr971Ile) rs569960675
NM_007186.6(CEP250):c.2930A>G (p.Gln977Arg)
NM_007186.6(CEP250):c.2971C>T (p.Leu991Phe)
NM_007186.6(CEP250):c.2992A>G (p.Ser998Gly)
NM_007186.6(CEP250):c.3011A>T (p.Asp1004Val) rs2147071095
NM_007186.6(CEP250):c.3073T>A (p.Ser1025Thr) rs1228969350
NM_007186.6(CEP250):c.3073T>C (p.Ser1025Pro)
NM_007186.6(CEP250):c.30C>A (p.Asn10Lys)
NM_007186.6(CEP250):c.3106A>C (p.Lys1036Gln) rs2147080542
NM_007186.6(CEP250):c.3115G>A (p.Glu1039Lys) rs2063785497
NM_007186.6(CEP250):c.3134G>T (p.Arg1045Leu) rs763406705
NM_007186.6(CEP250):c.3167+5G>T rs903593294
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.3230T>G (p.Ile1077Ser) rs2147097528
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.3272A>G (p.Glu1091Gly) rs763959807
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.3292G>C (p.Glu1098Gln) rs917053719
NM_007186.6(CEP250):c.3306+5T>C
NM_007186.6(CEP250):c.3349T>A (p.Phe1117Ile) rs2147106362
NM_007186.6(CEP250):c.3389C>A (p.Ala1130Glu)
NM_007186.6(CEP250):c.3427T>C (p.Trp1143Arg)
NM_007186.6(CEP250):c.3458A>C (p.Gln1153Pro)
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.3523C>A (p.Gln1175Lys) rs138159510
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.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.3659A>G (p.Gln1220Arg) rs2063913597
NM_007186.6(CEP250):c.3671G>A (p.Arg1224Lys) rs748250345
NM_007186.6(CEP250):c.3688G>A (p.Gly1230Arg)
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.3753C>G (p.Asp1251Glu) rs1159154873
NM_007186.6(CEP250):c.3858G>T (p.Glu1286Asp) rs2147127645
NM_007186.6(CEP250):c.385G>A (p.Val129Met)
NM_007186.6(CEP250):c.3880C>T (p.Leu1294Phe)
NM_007186.6(CEP250):c.3905C>T (p.Ser1302Phe)
NM_007186.6(CEP250):c.3916G>A (p.Gly1306Arg)
NM_007186.6(CEP250):c.3917G>A (p.Gly1306Glu) rs2064014614
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.3965T>C (p.Met1322Thr) rs1048988389
NM_007186.6(CEP250):c.3966G>A (p.Met1322Ile)
NM_007186.6(CEP250):c.4004A>G (p.Gln1335Arg) rs1402828809
NM_007186.6(CEP250):c.4024G>A (p.Glu1342Lys) rs2064032915
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.4078C>G (p.Leu1360Val)
NM_007186.6(CEP250):c.4087G>A (p.Ala1363Thr)
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.4120G>A (p.Ala1374Thr)
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.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.4291G>C (p.Ala1431Pro)
NM_007186.6(CEP250):c.4298G>C (p.Arg1433Thr) rs907049229
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.4420C>A (p.Leu1474Met) rs1057169190
NM_007186.6(CEP250):c.4460C>G (p.Ser1487Cys) rs1162080589
NM_007186.6(CEP250):c.4475T>G (p.Leu1492Arg)
NM_007186.6(CEP250):c.4486G>A (p.Val1496Ile)
NM_007186.6(CEP250):c.4486G>T (p.Val1496Phe)
NM_007186.6(CEP250):c.4522G>C (p.Glu1508Gln) rs1270550943
NM_007186.6(CEP250):c.4545G>C (p.Lys1515Asn)
NM_007186.6(CEP250):c.4547A>T (p.Asp1516Val) rs1568832361
NM_007186.6(CEP250):c.4550G>A (p.Arg1517Gln)
NM_007186.6(CEP250):c.4577A>T (p.His1526Leu) rs2147154151
NM_007186.6(CEP250):c.4639G>A (p.Asp1547Asn) rs1470874110
NM_007186.6(CEP250):c.467A>G (p.Glu156Gly)
NM_007186.6(CEP250):c.4685T>C (p.Leu1562Pro) rs2147155251
NM_007186.6(CEP250):c.4697A>G (p.His1566Arg) rs371083759
NM_007186.6(CEP250):c.4700A>T (p.His1567Leu)
NM_007186.6(CEP250):c.4762G>C (p.Val1588Leu) rs144589737
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.4880A>G (p.Glu1627Gly) rs775392138
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.4907G>A (p.Arg1636Gln)
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.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.5014G>C (p.Asp1672His)
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.5092G>A (p.Glu1698Lys) rs2064079583
NM_007186.6(CEP250):c.5107A>T (p.Arg1703Trp) rs1293253583
NM_007186.6(CEP250):c.5137G>A (p.Gly1713Arg)
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.5168G>A (p.Ser1723Asn) rs2064083389
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>G (p.His1746Gln) rs967779006
NM_007186.6(CEP250):c.5248G>A (p.Glu1750Lys) rs377467825
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.5312T>G (p.Leu1771Arg)
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.536G>T (p.Ser179Ile)
NM_007186.6(CEP250):c.5375A>G (p.Glu1792Gly)
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.5417A>G (p.Asp1806Gly)
NM_007186.6(CEP250):c.5431G>A (p.Ala1811Thr)
NM_007186.6(CEP250):c.5477A>G (p.Gln1826Arg)
NM_007186.6(CEP250):c.548A>T (p.Glu183Val)
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.5531A>G (p.Gln1844Arg)
NM_007186.6(CEP250):c.5548G>A (p.Ala1850Thr) rs2064098499
NM_007186.6(CEP250):c.5569C>T (p.Arg1857Cys)
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.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.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.5813G>T (p.Arg1938Leu) rs767687865
NM_007186.6(CEP250):c.5849A>T (p.Gln1950Leu)
NM_007186.6(CEP250):c.5882C>G (p.Ala1961Gly) rs1036530132
NM_007186.6(CEP250):c.5918C>T (p.Ala1973Val)
NM_007186.6(CEP250):c.5921A>T (p.His1974Leu) rs374754443
NM_007186.6(CEP250):c.596A>G (p.Asp199Gly)
NM_007186.6(CEP250):c.5975G>T (p.Arg1992Leu) rs760800311
NM_007186.6(CEP250):c.597C>G (p.Asp199Glu) rs769497701
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.600-3C>T rs1215447362
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.6073G>A (p.Glu2025Lys) rs1422976842
NM_007186.6(CEP250):c.6084C>G (p.Asp2028Glu) rs2147173106
NM_007186.6(CEP250):c.6095G>A (p.Arg2032Gln)
NM_007186.6(CEP250):c.6103G>A (p.Glu2035Lys) rs1321762009
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.6173A>T (p.Glu2058Val) rs2147174402
NM_007186.6(CEP250):c.6184G>C (p.Glu2062Gln)
NM_007186.6(CEP250):c.6189G>T (p.Lys2063Asn) rs760033053
NM_007186.6(CEP250):c.6256G>A (p.Glu2086Lys) rs1440375481
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.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.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.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.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.659G>C (p.Cys220Ser)
NM_007186.6(CEP250):c.6629G>A (p.Arg2210Lys)
NM_007186.6(CEP250):c.6659G>A (p.Arg2220Gln)
NM_007186.6(CEP250):c.665G>T (p.Arg222Leu) rs78174774
NM_007186.6(CEP250):c.6673G>C (p.Glu2225Gln) rs955566479
NM_007186.6(CEP250):c.6677G>A (p.Arg2226Gln)
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.6736G>T (p.Val2246Leu) rs1314267186
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.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.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.6962G>T (p.Gly2321Val)
NM_007186.6(CEP250):c.6986C>T (p.Thr2329Met)
NM_007186.6(CEP250):c.7027A>G (p.Asn2343Asp) rs2064309799
NM_007186.6(CEP250):c.7033G>A (p.Asp2345Asn)
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+4T>C rs2064311388
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.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.7182_7185del (p.Leu2396fs) rs2147240323
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.7295C>T (p.Pro2432Leu)
NM_007186.6(CEP250):c.7296del (p.Ser2433fs)
NM_007186.6(CEP250):c.7318_*87del (p.Ala2440_Ter2443del) rs2147242153
NM_007186.6(CEP250):c.7327del (p.Ter2443SerextTer?) rs2147242379
NM_007186.6(CEP250):c.7328A>C (p.Ter2443Ser)
NM_007186.6(CEP250):c.785A>G (p.Glu262Gly) rs2146723861
NM_007186.6(CEP250):c.823G>T (p.Asp275Tyr) rs754938655
NM_007186.6(CEP250):c.830A>G (p.Glu277Gly) rs2062916794
NM_007186.6(CEP250):c.852-3T>C rs2146751973
NM_007186.6(CEP250):c.852G>T (p.Arg284=) rs748553150
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.937G>C (p.Val313Leu)
NM_007186.6(CEP250):c.948+6T>G rs2062984834
NM_007186.6(CEP250):c.949-3C>T rs1252417641
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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