ClinVar Miner

List of variants in gene CEP164 reported as uncertain significance for Nephronophthisis 15

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Gene type:
ClinVar version:
Total variants: 563
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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 0.00056
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.(?_117257917)_(117260475_?)del
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)

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