ClinVar Miner

List of variants in gene CEP164 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 562
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu) rs138384561 0.00042
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys) rs146053426 0.00028
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp) rs139225491 0.00025
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser) rs201430651 0.00025
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg) rs375085754 0.00023
NM_014956.5(CEP164):c.2669G>A (p.Arg890His) rs368178224 0.00023
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_014956.5(CEP164):c.1152A>G (p.Gln384=) rs368171178 0.00021
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu) rs143370558 0.00018
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg) rs77118839 0.00018
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu) rs559070007 0.00017
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys) rs753614257 0.00017
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile) rs147414766 0.00016
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys) rs763864742 0.00013
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln) rs183392900 0.00012
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro) rs1317065002 0.00012
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln) rs137987733 0.00011
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu) rs146456836 0.00011
NM_014956.5(CEP164):c.1934+3C>T rs369584565 0.00010
NM_014956.5(CEP164):c.2704G>A (p.Val902Met) rs144279354 0.00009
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del) rs749738679 0.00009
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu) rs531161184 0.00009
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val) rs143919649 0.00009
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly) rs151204404 0.00008
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg) rs138536460 0.00008
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln) rs184333345 0.00008
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe) rs375118998 0.00008
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His) rs140470210 0.00007
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp) rs369446103 0.00007
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr) rs143693029 0.00007
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr) rs779345917 0.00006
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr) rs747800943 0.00006
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile) rs369322915 0.00006
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu) rs757822725 0.00006
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val) rs751866377 0.00006
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu) rs377394847 0.00006
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu) rs148116542 0.00006
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg) rs778958469 0.00005
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp) rs145755063 0.00005
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile) rs150451678 0.00005
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala) rs200571532 0.00005
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr) rs148477756 0.00005
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp) rs557730163 0.00005
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr) rs370793843 0.00005
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala) rs913817059 0.00005
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg) rs370039438 0.00005
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys) rs148650653 0.00005
NM_014956.5(CEP164):c.710C>A (p.Pro237His) rs567606919 0.00005
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys) rs763039493 0.00004
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile) rs752334538 0.00004
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr) rs142108558 0.00004
NM_014956.5(CEP164):c.1860A>T (p.Gln620His) rs745707423 0.00004
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala) rs138449146 0.00004
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln) rs781063589 0.00004
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys) rs375310104 0.00004
NM_014956.5(CEP164):c.2066+4A>G rs577854690 0.00004
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp) rs541217768 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=) rs766038184 0.00004
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys) rs374437787 0.00004
NM_014956.5(CEP164):c.499G>A (p.Val167Met) rs748619597 0.00004
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys) rs774763557 0.00004
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys) rs776372232 0.00004
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp) rs775902514 0.00003
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met) rs202080477 0.00003
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys) rs766713516 0.00003
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu) rs761621131 0.00003
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp) rs377437628 0.00003
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln) rs756048473 0.00003
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg) rs377597884 0.00003
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp) rs1055666351 0.00003
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His) rs372292887 0.00003
NM_014956.5(CEP164):c.3278+5_3278+8del rs929035130 0.00003
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr) rs527615343 0.00003
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu) rs75301270 0.00003
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala) rs757246851 0.00003
NM_014956.5(CEP164):c.625C>G (p.Leu209Val) rs921440647 0.00003
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly) rs777527578 0.00003
NM_014956.5(CEP164):c.765+3A>T rs1256710112 0.00003
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser) rs767609128 0.00003
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg) rs376214075 0.00003
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg) rs2042173742 0.00002
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro) rs557486197 0.00002
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val) rs1213789533 0.00002
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser) rs1481684034 0.00002
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu) rs773140295 0.00002
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu) rs1470761164 0.00002
NM_014956.5(CEP164):c.2362-14G>A rs1035815151 0.00002
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala) rs750842640 0.00002
NM_014956.5(CEP164):c.2494-3C>T rs763312597 0.00002
NM_014956.5(CEP164):c.2726G>A (p.Arg909His) rs530932318 0.00002
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val) rs778872289 0.00002
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687 0.00002
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val) rs770370539 0.00002
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr) rs375136293 0.00002
NM_014956.5(CEP164):c.3501+4A>G rs1180692184 0.00002
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu) rs746686807 0.00002
NM_014956.5(CEP164):c.3609+3G>A rs148009946 0.00002
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met) rs774641136 0.00002
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg) rs781132728 0.00002
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly) rs748810265 0.00002
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys) rs149806421 0.00002
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg) rs1281252703 0.00002
NM_014956.5(CEP164):c.112A>G (p.Ile38Val) rs978689124 0.00001
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr) rs780364658 0.00001
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp) rs1347609515 0.00001
NM_014956.5(CEP164):c.1226A>G (p.His409Arg) rs747489061 0.00001
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp) rs575328059 0.00001
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu) rs1324951273 0.00001
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr) rs749869599 0.00001
NM_014956.5(CEP164):c.1409+6A>G rs762497915 0.00001
NM_014956.5(CEP164):c.1410-11G>A rs537713728 0.00001
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln) rs573209223 0.00001
NM_014956.5(CEP164):c.1457G>A (p.Arg486His) rs545471229 0.00001
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr) rs765811586 0.00001
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala) rs541149150 0.00001
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser) rs758286092 0.00001
NM_014956.5(CEP164):c.1628A>G (p.His543Arg) rs780941204 0.00001
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr) rs943322658 0.00001
NM_014956.5(CEP164):c.1725-3T>C rs940650344 0.00001
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln) rs757579833 0.00001
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe) rs923498039 0.00001
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln) rs143553347 0.00001
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys) rs187622644 0.00001
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp) rs1222181370 0.00001
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp) rs760666687 0.00001
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln) rs763183525 0.00001
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe) rs1445485693 0.00001
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp) rs201175046 0.00001
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe) rs749213655 0.00001
NM_014956.5(CEP164):c.20G>A (p.Arg7His) rs1413886061 0.00001
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu) rs780538516 0.00001
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly) rs746693932 0.00001
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met) rs140009020 0.00001
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val) rs555087707 0.00001
NM_014956.5(CEP164):c.2473G>A (p.Val825Met) rs373870559 0.00001
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys) rs977065085 0.00001
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His) rs774896440 0.00001
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp) rs986338516 0.00001
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn) rs753347841 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.2776G>C (p.Asp926His) rs751259435 0.00001
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218 0.00001
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu) rs1217613639 0.00001
NM_014956.5(CEP164):c.2884G>A (p.Val962Met) rs750570669 0.00001
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg) rs1416554475 0.00001
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr) rs1316999665 0.00001
NM_014956.5(CEP164):c.3089+6G>A rs374896228 0.00001
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln) rs752093126 0.00001
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln) rs748972612 0.00001
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe) rs142722515 0.00001
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe) rs201488532 0.00001
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn) rs562234273 0.00001
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn) rs760736423 0.00001
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe) rs1307328675 0.00001
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn) rs1182752473 0.00001
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln) rs753895198 0.00001
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn) rs1341181625 0.00001
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile) rs757309937 0.00001
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His) rs758759503 0.00001
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro) rs747917840 0.00001
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala) rs535589696 0.00001
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu) rs1431305580 0.00001
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr) rs1190524819 0.00001
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly) rs765899402 0.00001
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn) rs950631722 0.00001
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln) rs1179932970 0.00001
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln) rs147208889 0.00001
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His) rs963921685 0.00001
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys) rs780550729 0.00001
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp) rs142578192 0.00001
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr) rs919243922 0.00001
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu) rs1006672566 0.00001
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys) rs1171979946 0.00001
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr) rs769207410 0.00001
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro) rs774024619 0.00001
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys) rs753906680 0.00001
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg) rs1338246093 0.00001
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala) rs1360828180 0.00001
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr) rs180911439 0.00001
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp) rs769676851 0.00001
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln) rs772989312 0.00001
NM_014956.5(CEP164):c.418G>A (p.Val140Ile) rs778310001 0.00001
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val) rs191488031 0.00001
NM_014956.5(CEP164):c.422A>G (p.His141Arg) rs200045306 0.00001
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln) rs564746056 0.00001
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu) rs139763142 0.00001
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly) rs140963454 0.00001
NM_014956.5(CEP164):c.530G>A (p.Arg177His) rs199701600 0.00001
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg) rs199924960 0.00001
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn) rs755237805 0.00001
NM_014956.5(CEP164):c.760T>C (p.Tyr254His) rs750854769 0.00001
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys) rs764958657 0.00001
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln) rs769627423 0.00001
NC_000011.9:g.(?_117209303)_(117222724_?)dup
NC_000011.9:g.(?_117209303)_(117234242_?)dup
NC_000011.9:g.(?_117232531)_(117233274_?)del
NC_000011.9:g.(?_117233107)_117234066del
NC_000011.9:g.(?_117278705)_(117284975_?)del
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala) rs2042173963
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly) rs775902514
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly) rs2135917595
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup) rs2042177715
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys) rs2135917914
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp) rs748917124
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr) rs2042180668
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro) rs2042181037
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn) rs374832717
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg) rs550044351
NM_014956.5(CEP164):c.1152+2dup rs1592221277
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys) rs2135971658
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile) rs759452273
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp) rs1394172852
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn) rs2042669971
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser) rs2042670551
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln) rs2038553739
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly) rs2136011109
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe) rs2042677558
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro) rs143370558
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly) rs2136117768
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala) rs2136118190
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys) rs2043218577
NM_014956.5(CEP164):c.1409+3A>T
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys) rs1565542472
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg) rs1277555628
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val) rs868163339
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys) rs757278608
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln) rs2136140136
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser) rs114396665
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val) rs1293561746
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe) rs2043350919
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr) rs997835172
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe) rs997835172
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr) rs112527080
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg) rs758286092
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala) rs200464405
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu) rs1053615798
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del) rs771007283
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu) rs757579833
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly) rs2136244485
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr) rs758890143
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala) rs865780691
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln) rs1565560519
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly) rs2136244992
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser) rs150956860
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
NM_014956.5(CEP164):c.1909C>A (p.His637Asn) rs2044090246
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys) rs2044090670
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp) rs1435675301
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe) rs2136247338
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
NM_014956.5(CEP164):c.195-10C>A
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys) rs746865666
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del) rs1393409770
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro) rs776074093
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys) rs1332049981
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp) rs778301430
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr) rs2136323032
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val) rs2136323172
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys) rs2136324049
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val) rs763926600
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg) rs757911593
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr) rs1565578311
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly) rs2039670463
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
NM_014956.5(CEP164):c.2362G>A (p.Val788Met) rs2044795731
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
NM_014956.5(CEP164):c.2490C>G (p.His830Gln) rs532278621
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp) rs1395693893
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
NM_014956.5(CEP164):c.2519G>A (p.Arg840His) rs201901144
NM_014956.5(CEP164):c.2527G>A (p.Val843Met) rs566117718
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr) rs371143032
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
NM_014956.5(CEP164):c.2616+5C>G rs2136378582
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val) rs2045131646
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg) rs752659513
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln) rs1387200155
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
NM_014956.5(CEP164):c.272A>G (p.His91Arg) rs2039675348
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly) rs541217768
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu) rs550799764
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro) rs748681315
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu) rs958659489
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly) rs374045323
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr) rs749310077
NM_014956.5(CEP164):c.2834_2844+13dup rs765251449
NM_014956.5(CEP164):c.2844+5G>C rs2136434803
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp) rs767099855
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly) rs2045276386
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
NM_014956.5(CEP164):c.2889G>T (p.Gln963His) rs2045277340
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup) rs2045276879
NM_014956.5(CEP164):c.28G>C (p.Asp10His) rs2135058109
NM_014956.5(CEP164):c.2913+4T>G
NM_014956.5(CEP164):c.2913G>A (p.Glu971=) rs2136439892
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr) rs1251181865
NM_014956.5(CEP164):c.2965C>A (p.His989Asn) rs2045329063
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
NM_014956.5(CEP164):c.2988G>T (p.Gln996His) rs1565593444
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val) rs2136452126
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly) rs115387935
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln) rs138868323
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His) rs1281977880
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu) rs2045343660
NM_014956.5(CEP164):c.3089+5C>T
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr) rs2045343883
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys) rs2045422580
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser) rs2136466815
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe) rs2136467124
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr) rs2136467201
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys) rs2136482246
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln) rs911561261
NM_014956.5(CEP164):c.3278+5G>A rs1382315277
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr) rs764825500
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala) rs1455570319
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro) rs144910893
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu) rs753895198
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu) rs2136502331
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His) rs143802594
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu) rs143802594
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly) rs2136503745
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
NM_014956.5(CEP164):c.347A>T (p.Lys116Met) rs867484690
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys) rs138487235
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn) rs2136505455
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val) rs772378117
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp) rs2136880769
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val) rs2046909808
NM_014956.5(CEP164):c.3609+2_3609+5dup
NM_014956.5(CEP164):c.3609+4C>T
NM_014956.5(CEP164):c.3609+9C>G
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe) rs2047007327
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg) rs2047009414
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser) rs1565634414
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly) rs2135446465
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys) rs375184395
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly) rs2135446492
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser) rs745898523
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His) rs775665636
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys) rs2047016520
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser) rs1458226426
NM_014956.5(CEP164):c.3749-5_3761dup rs2136932910
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn) rs1270766012
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del) rs752854208
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg) rs748443825
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe) rs2047109121
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu) rs758693012
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3]) rs1555159397
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu) rs145100782
NM_014956.5(CEP164):c.393+5G>A rs1230691362
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs) rs2136940605
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro) rs2136940823
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser) rs769315243
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys) rs2136941463
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro) rs148987415
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu) rs377401620
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys) rs73016324
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
NM_014956.5(CEP164):c.4163+3_4163+6del rs2047273023
NM_014956.5(CEP164):c.4163+6C>T rs576293282
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg) rs1274336690
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro) rs772989312
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp) rs745904143
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro) rs560527787
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly) rs2137001261
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs) rs2047398079
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His) rs2137008848
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
NM_014956.5(CEP164):c.485G>A (p.Arg162His) rs139763142
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser) rs770996340
NM_014956.5(CEP164):c.547A>C (p.Met183Leu) rs749917447
NM_014956.5(CEP164):c.547A>G (p.Met183Val) rs749917447
NM_014956.5(CEP164):c.548T>C (p.Met183Thr) rs144206271
NM_014956.5(CEP164):c.553-12_688-79del rs2135702447
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu) rs1354068792
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser) rs2135703292
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser) rs2135703365
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly) rs753078424
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
NM_014956.5(CEP164):c.644_646del (p.Gly215del) rs759774330
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del) rs2135704436
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
NM_014956.5(CEP164):c.67A>G (p.Ile23Val) rs2135058910
NM_014956.5(CEP164):c.687+5T>A
NM_014956.5(CEP164):c.687+7A>G
NM_014956.5(CEP164):c.687G>C (p.Gln229His) rs2041112988
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys) rs749146317
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser) rs1335434297
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp) rs368668415
NM_014956.5(CEP164):c.765+3A>G
NM_014956.5(CEP164):c.765+4A>T
NM_014956.5(CEP164):c.765+6A>G rs2041252535
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys) rs2135912954
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del) rs764638875
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys) rs565845914
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly) rs1411607770
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys) rs772164945
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu) rs376214075
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile) rs2135914534
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser) rs566379982
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn) rs2042170733
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)

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