ClinVar Miner

List of variants in gene CEP250 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 540
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
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.2391C>T (p.Val797=) rs111853969 0.00357
NM_007186.6(CEP250):c.5974C>T (p.Arg1992Cys) rs41290926 0.00299
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.384C>T (p.Asp128=) rs147554271 0.00093
NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys) rs754782740 0.00092
NM_007186.6(CEP250):c.2775G>T (p.Lys925Asn) rs145916875 0.00081
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.6417A>G (p.Leu2139=) rs77537563 0.00036
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.4674G>C (p.Leu1558=) rs149333362 0.00027
NM_007186.6(CEP250):c.7066-11C>T rs201178839 0.00027
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.3501C>T (p.Ala1167=) rs147057333 0.00022
NM_007186.6(CEP250):c.4737G>T (p.Leu1579=) rs772730293 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.1213C>T (p.Leu405=) rs147572292 0.00018
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.851G>A (p.Arg284Gln) rs139021763 0.00016
NM_007186.6(CEP250):c.3167+20G>A rs376973551 0.00014
NM_007186.6(CEP250):c.2289-15T>C rs375501260 0.00013
NM_007186.6(CEP250):c.3167+17A>G rs113924697 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.7191C>T (p.Ala2397=) rs150287277 0.00012
NM_007186.6(CEP250):c.5850G>A (p.Gln1950=) rs368373743 0.00011
NM_007186.6(CEP250):c.6106G>A (p.Asp2036Asn) rs555985621 0.00011
NM_007186.6(CEP250):c.1002G>A (p.Ala334=) rs369235134 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.7296C>T (p.Pro2432=) rs112262207 0.00009
NM_007186.6(CEP250):c.3594G>A (p.Glu1198=) rs201126201 0.00008
NM_007186.6(CEP250):c.4773C>T (p.Thr1591=) rs562343473 0.00008
NM_007186.6(CEP250):c.1210-14C>T rs762633725 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.5931G>A (p.Leu1977=) rs371750837 0.00007
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.522C>T (p.His174=) rs770748663 0.00006
NM_007186.6(CEP250):c.5253C>G (p.Leu1751=) rs373046815 0.00006
NM_007186.6(CEP250):c.5955C>T (p.Leu1985=) rs569215874 0.00006
NM_007186.6(CEP250):c.6373T>C (p.Leu2125=) rs762607625 0.00006
NM_007186.6(CEP250):c.2784A>T (p.Val928=) rs781676671 0.00005
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val) rs199592435 0.00005
NM_007186.6(CEP250):c.1388+10C>T rs202070155 0.00004
NM_007186.6(CEP250):c.1578G>A (p.Glu526=) rs780153353 0.00004
NM_007186.6(CEP250):c.1706C>T (p.Ala569Val) rs780173303 0.00004
NM_007186.6(CEP250):c.2526T>C (p.Thr842=) rs369949999 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.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.4227C>T (p.Gly1409=) rs147073538 0.00004
NM_007186.6(CEP250):c.4566C>T (p.Asn1522=) rs376332581 0.00004
NM_007186.6(CEP250):c.5554A>G (p.Met1852Val) rs199900436 0.00004
NM_007186.6(CEP250):c.6447G>A (p.Gln2149=) rs985469451 0.00004
NM_007186.6(CEP250):c.6543G>A (p.Ala2181=) rs373000443 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.1050+15C>G rs757809499 0.00003
NM_007186.6(CEP250):c.1062A>G (p.Glu354=) rs116735629 0.00003
NM_007186.6(CEP250):c.1917G>A (p.Ala639=) rs1258544220 0.00003
NM_007186.6(CEP250):c.3675C>T (p.Ser1225=) rs371562704 0.00003
NM_007186.6(CEP250):c.4275C>G (p.Leu1425=) rs368599735 0.00003
NM_007186.6(CEP250):c.5790G>A (p.Gln1930=) rs761574175 0.00003
NM_007186.6(CEP250):c.6750+17G>A rs764589550 0.00003
NM_007186.6(CEP250):c.7140C>T (p.Thr2380=) rs199835017 0.00003
NM_007186.6(CEP250):c.2755-17C>T rs750186084 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.3899-6T>G rs771741325 0.00002
NM_007186.6(CEP250):c.399C>T (p.Ala133=) rs749565417 0.00002
NM_007186.6(CEP250):c.4620C>T (p.Ser1540=) rs767547469 0.00002
NM_007186.6(CEP250):c.5187G>C (p.Leu1729=) rs774621453 0.00002
NM_007186.6(CEP250):c.5523C>T (p.Asp1841=) rs943676339 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.6462G>A (p.Arg2154=) rs1163366076 0.00002
NM_007186.6(CEP250):c.6966C>G (p.Ser2322=) rs368667877 0.00002
NM_007186.6(CEP250):c.1050+11G>A rs1161179223 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.1210-13T>C rs763713634 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.1416G>A (p.Arg472=) rs780642468 0.00001
NM_007186.6(CEP250):c.1596A>G (p.Glu532=) rs774206252 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.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.2039C>T (p.Ala680Val) rs1298763139 0.00001
NM_007186.6(CEP250):c.2064G>A (p.Glu688=) rs147408283 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.2262C>T (p.Asp754=) rs776467382 0.00001
NM_007186.6(CEP250):c.2288+8C>A rs767021030 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.2499G>A (p.Leu833=) rs377301561 0.00001
NM_007186.6(CEP250):c.2535G>A (p.Glu845=) rs1348006329 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.2829T>C (p.Asp943=) rs764980962 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.3144G>A (p.Lys1048=) rs372995024 0.00001
NM_007186.6(CEP250):c.3167+15C>T rs370930613 0.00001
NM_007186.6(CEP250):c.326+14A>G rs753370220 0.00001
NM_007186.6(CEP250):c.3390G>A (p.Ala1130=) rs79678946 0.00001
NM_007186.6(CEP250):c.3516C>T (p.Pro1172=) rs756411662 0.00001
NM_007186.6(CEP250):c.357G>A (p.Gln119=) rs377314862 0.00001
NM_007186.6(CEP250):c.3636C>T (p.Ser1212=) rs768771397 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.3930C>G (p.Ser1310=) rs775637333 0.00001
NM_007186.6(CEP250):c.4021-8T>A rs759462075 0.00001
NM_007186.6(CEP250):c.411T>C (p.Asp137=) rs769369386 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.4443G>A (p.Glu1481=) rs763763160 0.00001
NM_007186.6(CEP250):c.4839C>T (p.Asp1613=) rs758915146 0.00001
NM_007186.6(CEP250):c.4857C>T (p.Thr1619=) rs747612043 0.00001
NM_007186.6(CEP250):c.4914G>A (p.Gln1638=) rs1289936459 0.00001
NM_007186.6(CEP250):c.5115G>A (p.Leu1705=) rs150675259 0.00001
NM_007186.6(CEP250):c.5263C>T (p.Leu1755=) rs756049234 0.00001
NM_007186.6(CEP250):c.5538T>C (p.Ala1846=) rs1443144183 0.00001
NM_007186.6(CEP250):c.5874T>C (p.Ala1958=) rs1436674333 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.6372C>T (p.Ala2124=) rs772619850 0.00001
NM_007186.6(CEP250):c.646C>T (p.Leu216=) rs1358595793 0.00001
NM_007186.6(CEP250):c.6501T>C (p.Ile2167=) rs562274381 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.6774T>C (p.Pro2258=) rs2064243313 0.00001
NM_007186.6(CEP250):c.6924G>A (p.Arg2308=) rs2064275492 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.729G>A (p.Pro243=) rs747800327 0.00001
NM_007186.6(CEP250):c.7314A>G (p.Gln2438=) rs747425179 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.885T>C (p.Ser295=) rs765175211 0.00001
NM_007186.6(CEP250):c.949-6G>C rs768722631 0.00001
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.1074T>C (p.Asn358=)
NM_007186.6(CEP250):c.1111T>C (p.Leu371=) rs2146783506
NM_007186.6(CEP250):c.1167T>C (p.Thr389=) rs2146784354
NM_007186.6(CEP250):c.1203T>C (p.Ala401=) rs2146785012
NM_007186.6(CEP250):c.1210-4A>C
NM_007186.6(CEP250):c.1212C>T (p.Asp404=) rs2146791947
NM_007186.6(CEP250):c.1242G>A (p.Glu414=)
NM_007186.6(CEP250):c.1320C>T (p.Leu440=)
NM_007186.6(CEP250):c.1329G>A (p.Glu443=)
NM_007186.6(CEP250):c.1344A>T (p.Ala448=)
NM_007186.6(CEP250):c.1371G>A (p.Glu457=)
NM_007186.6(CEP250):c.1383C>G (p.Leu461=) rs773410352
NM_007186.6(CEP250):c.1388+16G>C
NM_007186.6(CEP250):c.1388+7A>G rs766420065
NM_007186.6(CEP250):c.1392G>A (p.Glu464=)
NM_007186.6(CEP250):c.1423C>T (p.Leu475=)
NM_007186.6(CEP250):c.1428G>T (p.Arg476=) rs2146799520
NM_007186.6(CEP250):c.1437G>A (p.Leu479=)
NM_007186.6(CEP250):c.1458A>G (p.Ala486=)
NM_007186.6(CEP250):c.1467G>A (p.Leu489=)
NM_007186.6(CEP250):c.1470A>C (p.Arg490=)
NM_007186.6(CEP250):c.1470A>T (p.Arg490=)
NM_007186.6(CEP250):c.1503C>T (p.Asp501=) rs2146801123
NM_007186.6(CEP250):c.1571+16C>G rs1406042527
NM_007186.6(CEP250):c.1571+18C>T
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.15C>T (p.Ser5=)
NM_007186.6(CEP250):c.1675C>T (p.Leu559=) rs201427125
NM_007186.6(CEP250):c.1692G>A (p.Thr564=)
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.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.1833T>C (p.Asp611=) rs2146835311
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.1864-16C>G rs2063216830
NM_007186.6(CEP250):c.1864-19T>C rs2146851943
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.1935C>A (p.Val645=)
NM_007186.6(CEP250):c.195G>A (p.Gln65=)
NM_007186.6(CEP250):c.1983C>T (p.Asn661=) rs2146854737
NM_007186.6(CEP250):c.2094+16G>A
NM_007186.6(CEP250):c.2095-16A>G
NM_007186.6(CEP250):c.2118C>T (p.Ala706=)
NM_007186.6(CEP250):c.2163A>G (p.Glu721=) rs2146876211
NM_007186.6(CEP250):c.2199C>T (p.Ala733=)
NM_007186.6(CEP250):c.2241C>T (p.Ala747=)
NM_007186.6(CEP250):c.2259G>A (p.Gln753=)
NM_007186.6(CEP250):c.2283G>A (p.Gly761=)
NM_007186.6(CEP250):c.2288+13C>T
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.2355C>T (p.Val785=) rs772770258
NM_007186.6(CEP250):c.2361G>A (p.Lys787=) rs2146883155
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.2421A>G (p.Glu807=)
NM_007186.6(CEP250):c.243+12T>C
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.255C>A (p.Pro85=)
NM_007186.6(CEP250):c.255C>T (p.Pro85=) rs558154821
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.2644A>C (p.Arg882=)
NM_007186.6(CEP250):c.2659C>T (p.Leu887=)
NM_007186.6(CEP250):c.2670G>A (p.Arg890=) rs202083231
NM_007186.6(CEP250):c.273G>A (p.Val91=)
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.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.2832C>T (p.Ala944=) rs892813256
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.2890-4T>C rs759259666
NM_007186.6(CEP250):c.2913C>T (p.Thr971=) rs750943379
NM_007186.6(CEP250):c.2931A>G (p.Gln977=)
NM_007186.6(CEP250):c.3003G>A (p.Leu1001=)
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.3033+4_3033+5insA
NM_007186.6(CEP250):c.3033+4_3033+5insAT
NM_007186.6(CEP250):c.3033+5C>T
NM_007186.6(CEP250):c.3033+6C>T
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.3090G>A (p.Glu1030=)
NM_007186.6(CEP250):c.30C>T (p.Asn10=)
NM_007186.6(CEP250):c.3108G>A (p.Lys1036=)
NM_007186.6(CEP250):c.3123G>A (p.Gln1041=)
NM_007186.6(CEP250):c.3126G>A (p.Glu1042=) rs2063785888
NM_007186.6(CEP250):c.3167+15C>A
NM_007186.6(CEP250):c.3167+18T>C rs2147081561
NM_007186.6(CEP250):c.3168-14C>T
NM_007186.6(CEP250):c.3228T>C (p.Ser1076=) rs2147097468
NM_007186.6(CEP250):c.3232C>A (p.Arg1078=)
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.3273G>A (p.Glu1091=) rs2147098083
NM_007186.6(CEP250):c.3285A>G (p.Glu1095=) rs2147098139
NM_007186.6(CEP250):c.3306+19A>G rs779431510
NM_007186.6(CEP250):c.3316C>T (p.Leu1106=)
NM_007186.6(CEP250):c.3321G>A (p.Arg1107=) rs2063880814
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.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.3447A>C (p.Ala1149=)
NM_007186.6(CEP250):c.3468G>T (p.Leu1156=) rs761547955
NM_007186.6(CEP250):c.3495G>A (p.Ala1165=) rs764615392
NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2]) rs561035032
NM_007186.6(CEP250):c.3528C>T (p.Ala1176=)
NM_007186.6(CEP250):c.3604G>A (p.Glu1202Lys)
NM_007186.6(CEP250):c.3605A>T (p.Glu1202Val)
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.366G>A (p.Leu122=)
NM_007186.6(CEP250):c.3690G>A (p.Gly1230=) rs2063915065
NM_007186.6(CEP250):c.369C>T (p.His123=)
NM_007186.6(CEP250):c.3712G>A (p.Ala1238Thr) rs375032151
NM_007186.6(CEP250):c.3747T>C (p.His1249=)
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.387G>A (p.Val129=)
NM_007186.6(CEP250):c.3885C>T (p.Ser1295=) rs1217813282
NM_007186.6(CEP250):c.3898+19G>T
NM_007186.6(CEP250):c.3898+9C>T rs1036046896
NM_007186.6(CEP250):c.3899-15C>G rs2147141607
NM_007186.6(CEP250):c.3899-19C>T
NM_007186.6(CEP250):c.3931C>T (p.Leu1311=) rs765203693
NM_007186.6(CEP250):c.3952C>T (p.Leu1318=) rs2147142526
NM_007186.6(CEP250):c.3985C>T (p.Leu1329=) rs2147143146
NM_007186.6(CEP250):c.3987G>C (p.Leu1329=)
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.402T>C (p.Leu134=)
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.4080G>A (p.Leu1360=)
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.4113A>T (p.Ala1371=)
NM_007186.6(CEP250):c.4140C>T (p.Asp1380=)
NM_007186.6(CEP250):c.4251G>A (p.Lys1417=)
NM_007186.6(CEP250):c.4311G>A (p.Val1437=)
NM_007186.6(CEP250):c.4353G>A (p.Arg1451=) rs1216657994
NM_007186.6(CEP250):c.4365G>A (p.Lys1455=)
NM_007186.6(CEP250):c.4413G>A (p.Glu1471=) rs1247320008
NM_007186.6(CEP250):c.4437T>A (p.Ile1479=) rs2147152254
NM_007186.6(CEP250):c.4449G>A (p.Glu1483=)
NM_007186.6(CEP250):c.4476G>A (p.Leu1492=)
NM_007186.6(CEP250):c.447G>A (p.Arg149=) rs2146708499
NM_007186.6(CEP250):c.4488C>A (p.Val1496=) rs755041741
NM_007186.6(CEP250):c.4497A>G (p.Arg1499=) rs930625705
NM_007186.6(CEP250):c.4500G>A (p.Glu1500=)
NM_007186.6(CEP250):c.4539C>T (p.Leu1513=)
NM_007186.6(CEP250):c.454C>T (p.Leu152=)
NM_007186.6(CEP250):c.4587A>C (p.Leu1529=) rs2147154242
NM_007186.6(CEP250):c.4602A>G (p.Lys1534=)
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.468G>A (p.Glu156=)
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.4783C>T (p.Leu1595=) rs2064066617
NM_007186.6(CEP250):c.4815G>A (p.Gln1605=)
NM_007186.6(CEP250):c.4893G>A (p.Glu1631=) rs2147157407
NM_007186.6(CEP250):c.4899G>A (p.Lys1633=)
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.4959C>G (p.Leu1653=) rs1198658920
NM_007186.6(CEP250):c.5010C>T (p.Leu1670=) rs200762282
NM_007186.6(CEP250):c.5034C>T (p.Thr1678=)
NM_007186.6(CEP250):c.504C>T (p.Gly168=)
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.5091G>A (p.Arg1697=)
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.5163C>T (p.Arg1721=)
NM_007186.6(CEP250):c.5172A>G (p.Leu1724=)
NM_007186.6(CEP250):c.5238T>C (p.His1746=)
NM_007186.6(CEP250):c.5256A>G (p.Lys1752=) rs1325527895
NM_007186.6(CEP250):c.5265G>C (p.Leu1755=)
NM_007186.6(CEP250):c.5307C>T (p.Thr1769=) rs2147162940
NM_007186.6(CEP250):c.5313C>T (p.Leu1771=)
NM_007186.6(CEP250):c.5349G>A (p.Leu1783=) rs373516283
NM_007186.6(CEP250):c.5370C>G (p.Ala1790=)
NM_007186.6(CEP250):c.5382G>A (p.Gly1794=)
NM_007186.6(CEP250):c.5415G>A (p.Leu1805=)
NM_007186.6(CEP250):c.544C>A (p.Arg182=)
NM_007186.6(CEP250):c.5454A>G (p.Glu1818=) rs2147164415
NM_007186.6(CEP250):c.5481G>A (p.Gln1827=)
NM_007186.6(CEP250):c.5529C>T (p.Leu1843=) rs2147165269
NM_007186.6(CEP250):c.5544G>A (p.Glu1848=)
NM_007186.6(CEP250):c.5625G>A (p.Leu1875=)
NM_007186.6(CEP250):c.5697G>A (p.Gln1899=)
NM_007186.6(CEP250):c.5715C>T (p.Ala1905=) rs2147167911
NM_007186.6(CEP250):c.5793C>A (p.Ala1931=)
NM_007186.6(CEP250):c.5798C>T (p.Ala1933Val) rs116637219
NM_007186.6(CEP250):c.5799A>C (p.Ala1933=)
NM_007186.6(CEP250):c.5835G>A (p.Leu1945=)
NM_007186.6(CEP250):c.5865G>A (p.Gln1955=)
NM_007186.6(CEP250):c.5877C>T (p.Ala1959=)
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.5919T>A (p.Ala1973=)
NM_007186.6(CEP250):c.5952C>T (p.Leu1984=)
NM_007186.6(CEP250):c.5958G>A (p.Glu1986=) rs1466836464
NM_007186.6(CEP250):c.5979T>C (p.Ser1993=)
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.600-16C>T
NM_007186.6(CEP250):c.600-8G>A
NM_007186.6(CEP250):c.6009C>T (p.Ala2003=)
NM_007186.6(CEP250):c.6066A>G (p.Gln2022=) rs746967269
NM_007186.6(CEP250):c.6078C>T (p.Ile2026=)
NM_007186.6(CEP250):c.6111G>A (p.Val2037=)
NM_007186.6(CEP250):c.6171G>C (p.Arg2057=) rs2147174381
NM_007186.6(CEP250):c.6186G>A (p.Glu2062=)
NM_007186.6(CEP250):c.6189G>A (p.Lys2063=) rs760033053
NM_007186.6(CEP250):c.6193C>T (p.Leu2065=)
NM_007186.6(CEP250):c.6261G>A (p.Glu2087=)
NM_007186.6(CEP250):c.6267A>C (p.Ile2089=) rs766147776
NM_007186.6(CEP250):c.6294G>A (p.Glu2098=) rs2147175819
NM_007186.6(CEP250):c.6354A>G (p.Gln2118=)
NM_007186.6(CEP250):c.6444G>T (p.Leu2148=)
NM_007186.6(CEP250):c.6510G>A (p.Arg2170=)
NM_007186.6(CEP250):c.6525C>T (p.Asp2175=)
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.666C>T (p.Arg222=) rs2146722313
NM_007186.6(CEP250):c.6693T>G (p.Gly2231=) rs1601318835
NM_007186.6(CEP250):c.6726G>A (p.Gly2242=)
NM_007186.6(CEP250):c.6750+18G>C
NM_007186.6(CEP250):c.6750+19G>C
NM_007186.6(CEP250):c.6798G>A (p.Gln2266=) rs145765975
NM_007186.6(CEP250):c.6865C>T (p.Leu2289=) rs2147209482
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.6907-9C>T
NM_007186.6(CEP250):c.6919C>A (p.Arg2307=) rs915467191
NM_007186.6(CEP250):c.6957G>A (p.Gln2319=) rs201729351
NM_007186.6(CEP250):c.6975C>T (p.Ile2325=)
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.7038C>T (p.Ala2346=)
NM_007186.6(CEP250):c.7065+11del
NM_007186.6(CEP250):c.7065+13T>A
NM_007186.6(CEP250):c.7066-17T>A
NM_007186.6(CEP250):c.7066-6C>T rs2064352499
NM_007186.6(CEP250):c.7104G>A (p.Lys2368=) rs2147239210
NM_007186.6(CEP250):c.7161G>A (p.Leu2387=)
NM_007186.6(CEP250):c.7173C>G (p.Leu2391=) rs549300192
NM_007186.6(CEP250):c.7206T>C (p.Pro2402=)
NM_007186.6(CEP250):c.7251C>A (p.Ser2417=)
NM_007186.6(CEP250):c.7275A>G (p.Pro2425=)
NM_007186.6(CEP250):c.72G>T (p.Val24=)
NM_007186.6(CEP250):c.7305C>T (p.Ser2435=) rs1167410872
NM_007186.6(CEP250):c.7320C>T (p.Ala2440=) rs2147242305
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.795G>A (p.Gln265=)
NM_007186.6(CEP250):c.825T>C (p.Asp275=) rs778905410
NM_007186.6(CEP250):c.849C>T (p.Asp283=)
NM_007186.6(CEP250):c.851+15G>A
NM_007186.6(CEP250):c.871C>T (p.Leu291=) rs2146752316
NM_007186.6(CEP250):c.882G>A (p.Gln294=)
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.948+7G>A

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