ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1979
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_006642.5(SDCCAG8):c.-130C>A rs547776191 0.00072
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798 0.00068
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 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_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys) rs114489653 0.00037
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His) rs369950850 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn) rs368298952 0.00033
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_006642.5(SDCCAG8):c.-121C>T rs768318766 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843 0.00029
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys) rs146053426 0.00028
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr) rs202199543 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
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_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_006642.5(SDCCAG8):c.1068+3A>G rs201388041 0.00024
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu) rs370837214 0.00024
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile) rs772753780 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
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_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_014956.5(CEP164):c.1152A>G (p.Gln384=) rs368171178 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) rs200461035 0.00019
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp) rs563684894 0.00019
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00018
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_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 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_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile) rs147414766 0.00016
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln) rs202179978 0.00016
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met) rs571204647 0.00016
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His) rs201531378 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp) rs778505641 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) rs368703067 0.00014
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn) rs367636423 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys) rs763864742 0.00013
NM_015102.5(NPHP4):c.-202C>T rs145074678 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.3996+3C>T rs373386232 0.00013
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
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_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898 0.00012
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn) rs763576044 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00011
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_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met) rs528511138 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) rs770306576 0.00010
NM_014956.5(CEP164):c.1934+3C>T rs369584565 0.00010
NM_015102.5(NPHP4):c.-52G>T rs886046468 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu) rs367694436 0.00010
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys) rs372688518 0.00010
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser) rs371368653 0.00010
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser) rs376675995 0.00010
NM_015102.5(NPHP4):c.870C>T (p.Gly290=) rs749844096 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528 0.00009
NM_006642.5(SDCCAG8):c.220+3G>A rs370361491 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00009
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
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_015102.5(NPHP4):c.1230G>T (p.Gln410His) rs368074369 0.00009
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile) rs746967083 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile) rs745634199 0.00008
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala) rs749010399 0.00008
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_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val) rs745698836 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 0.00007
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_015102.5(NPHP4):c.2931G>A (p.Thr977=) rs756370084 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu) rs1308863502 0.00006
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr) rs145984257 0.00006
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln) rs375037219 0.00006
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys) rs372641187 0.00006
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) rs750977682 0.00006
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His) rs577345357 0.00006
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) rs377564587 0.00006
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_015102.5(NPHP4):c.1025G>A (p.Arg342His) rs369550765 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380 0.00006
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser) rs201192228 0.00006
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr) rs373614448 0.00006
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu) rs762305544 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048 0.00006
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) rs775927621 0.00006
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys) rs376773394 0.00006
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu) rs376508978 0.00006
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val) rs777310738 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00006
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp) rs762195159 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln) rs768550124 0.00006
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met) rs371657189 0.00006
NM_015102.5(NPHP4):c.619C>T (p.Leu207=) rs765514910 0.00006
NM_015102.5(NPHP4):c.863G>A (p.Arg288His) rs774872736 0.00006
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213 0.00006
NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu) rs560016209 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2292A>T (p.Gln764His) rs1340705825 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr) rs756862143 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) rs372799054 0.00006
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys) rs746465783 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr) rs776810375 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
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_015102.5(NPHP4):c.1129G>A (p.Val377Ile) rs751685493 0.00005
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly) rs200634524 0.00005
NM_015102.5(NPHP4):c.2143+3G>T rs762882392 0.00005
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp) rs768582000 0.00005
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met) rs368898819 0.00005
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221 0.00005
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys) rs771042265 0.00005
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg) rs923103631 0.00005
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924 0.00005
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys) rs773309269 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu) rs1244203665 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His) rs372719724 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) rs765529431 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 0.00004
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_015102.5(NPHP4):c.1168C>T (p.Arg390Cys) rs748941493 0.00004
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg) rs759608529 0.00004
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp) rs200800785 0.00004
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys) rs780231735 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr) rs772593921 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.319G>A (p.Val107Met) rs377738968 0.00004
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr) rs747313030 0.00004
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338 0.00004
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys) rs377686745 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu) rs750994795 0.00004
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg) rs762284065 0.00004
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val) rs370410995 0.00004
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg) rs772219240 0.00004
NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser) rs1256966921 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile) rs1286484497 0.00004
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys) rs377367588 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2786G>A (p.Arg929His) rs201685269 0.00004
NM_025132.4(WDR19):c.3184-3C>T rs750130004 0.00004
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn) rs376167184 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) rs141949168 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_006642.5(SDCCAG8):c.-131T>C rs886046327 0.00003
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 0.00003
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile) rs565662622 0.00003
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg) rs371805116 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) rs764668676 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg) rs147807589 0.00003
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_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro) rs374239338 0.00003
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr) rs368101076 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932 0.00003
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala) rs775263560 0.00003
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310 0.00003
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr) rs573269001 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu) rs549077156 0.00003
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys) rs753555544 0.00003
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) rs539967736 0.00003
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 0.00003
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser) rs367814493 0.00003
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met) rs372485746 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile) rs184326673 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1182A>G (p.Ala394=) rs769687203 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val) rs867487924 0.00003
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala) rs934792994 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.288G>A (p.Met96Ile) rs374891297 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu) rs757721845 0.00003
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr) rs1206705962 0.00003
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His) rs115335610 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn) rs199524638 0.00002
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile) rs762653933 0.00002
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu) rs747363592 0.00002
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr) rs775898129 0.00002
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile) rs776040834 0.00002
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys) rs373999051 0.00002
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
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_015102.5(NPHP4):c.109T>C (p.Trp37Arg) rs770741381 0.00002
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu) rs367909950 0.00002
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met) rs754829412 0.00002
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser) rs750626428 0.00002
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407 0.00002
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile) rs368327650 0.00002
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu) rs755418982 0.00002
NM_015102.5(NPHP4):c.2304+6G>A rs751418752 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 0.00002
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu) rs202165848 0.00002
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp) rs754364004 0.00002
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys) rs373603595 0.00002
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg) rs370946873 0.00002
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp) rs766073255 0.00002
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser) rs369529384 0.00002
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg) rs373981841 0.00002
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp) rs755637892 0.00002
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu) rs758458943 0.00002
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys) rs751325206 0.00002
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val) rs758049366 0.00002
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala) rs1038494626 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr) rs370942610 0.00002
NM_015102.5(NPHP4):c.3816+5G>A rs971158630 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn) rs753652250 0.00002
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile) rs571395593 0.00002
NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp) rs569480234 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp) rs781578023 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly) rs778750936 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met) rs770339514 0.00002
NM_025132.4(WDR19):c.1982+6C>T rs745860100 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val) rs1055716143 0.00002
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser) rs1318406101 0.00002
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile) rs551049157 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) rs923164828 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln) rs1322637464 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn) rs1429836760 0.00002
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val) rs767154492 0.00002
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln) rs998142201 0.00002
NM_025132.4(WDR19):c.3565+4A>C rs771431758 0.00002
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met) rs1306554397 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.738G>A (p.Met246Ile) rs756937727 0.00002
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_006642.5(SDCCAG8):c.-106G>T rs886046328 0.00001
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys) rs771991355 0.00001
NM_006642.5(SDCCAG8):c.1069-8C>T rs752672598 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln) rs553797432 0.00001
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser) rs756642876 0.00001
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn) rs377237088 0.00001
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr) rs1041307493 0.00001
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val) rs752002252 0.00001
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val) rs1345199314 0.00001
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn) rs777728424 0.00001
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala) rs779777531 0.00001
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn) rs781182231 0.00001
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val) rs769796315 0.00001
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp) rs769286565 0.00001
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln) rs772853104 0.00001
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr) rs1015302300 0.00001
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His) rs1182496392 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr) rs190941099 0.00001
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly) rs1273880712 0.00001
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu) rs1573445816 0.00001
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe) rs1432354431 0.00001
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg) rs745351109 0.00001
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 0.00001
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala) rs780281311 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg) rs760154232 0.00001
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His) rs138187640 0.00001
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 0.00001
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg) rs746505992 0.00001
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu) rs1415587153 0.00001
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530 0.00001
NM_006642.5(SDCCAG8):c.1986-3C>T rs757455834 0.00001
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu) rs1242245359 0.00001
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) rs778488043 0.00001
NM_006642.5(SDCCAG8):c.307-3T>C rs901028030 0.00001
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) rs913322544 0.00001
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg) rs778785206 0.00001
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val) rs377473337 0.00001
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr) rs758051187 0.00001
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe) rs763172123 0.00001
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val) rs747774826 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=) rs564399164 0.00001
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser) rs185077992 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr) rs753823148 0.00001
NM_006642.5(SDCCAG8):c.67+17C>G rs1311985140 0.00001
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr) rs1299404653 0.00001
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997 0.00001
NM_006642.5(SDCCAG8):c.929+6T>C rs949556945 0.00001
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe) rs368258515 0.00001
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
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.-206C>A rs539173372 0.00001
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro) rs369951224 0.00001
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu) rs767476133 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr) rs374792772 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 0.00001
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306 0.00001
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln) rs1320696639 0.00001
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser) rs1209081705 0.00001
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile) rs931907795 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp) rs771873685 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys) rs766088144 0.00001
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser) rs780500004 0.00001
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile) rs754838672 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys) rs149928611 0.00001
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=) rs576473519 0.00001
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val) rs770984804 0.00001
NM_015102.5(NPHP4):c.280-5T>G rs908276068 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp) rs747091960 0.00001
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala) rs201591531 0.00001
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His) rs763251283 0.00001
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys) rs765444252 0.00001
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val) rs369021103 0.00001
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu) rs749612555 0.00001
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp) rs772214126 0.00001
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) rs1226725565 0.00001
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His) rs569553635 0.00001
NM_015102.5(NPHP4):c.3816+4C>T rs764632297 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 0.00001
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys) rs531607950 0.00001
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp) rs375476413 0.00001
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr) rs958569972 0.00001
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys) rs373315843 0.00001
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu) rs763112800 0.00001
NM_015102.5(NPHP4):c.452+3A>G rs1426440104 0.00001
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val) rs763307389 0.00001
NM_015102.5(NPHP4):c.51C>A (p.His17Gln) rs766636945 0.00001
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His) rs1027187670 0.00001
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro) rs1182919955 0.00001
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr) rs1349348418 0.00001
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu) rs752624938 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) rs565630355 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser) rs1729030821 0.00001
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys) rs761268969 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr) rs1729266547 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala) rs772209665 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile) rs764106666 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn) rs557405566 0.00001
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp) rs375777724 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1749T>G (p.Thr583=) rs767572787 0.00001
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu) rs1245108212 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr) rs767757561 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) rs753976268 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser) rs777105752 0.00001
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn) rs765614115 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2272C>A (p.His758Asn) rs577133819 0.00001
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr) rs545547031 0.00001
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile) rs1349223638 0.00001
NM_025132.4(WDR19):c.2562+4C>G rs1732285598 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg) rs1231847370 0.00001
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn) rs761275061 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.277G>C (p.Asp93His) rs1725959489 0.00001
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val) rs778314721 0.00001
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr) rs1733506402 0.00001
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) rs771583357 0.00001
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg) rs1733508675 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.2T>C (p.Met1Thr) rs1021076498 0.00001
NM_025132.4(WDR19):c.3001+3A>G rs986476372 0.00001
NM_025132.4(WDR19):c.3001+6T>C rs912115085 0.00001
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser) rs757632232 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val) rs760222006 0.00001
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) rs1331013833 0.00001
NM_025132.4(WDR19):c.3358+3A>G rs1263454874 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His) rs1187864679 0.00001
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val) rs1235824066 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp) rs748465735 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr) rs1250445688 0.00001
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr) rs1187043579 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His) rs1158060361 0.00001
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys) rs767906377 0.00001
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu) rs778745769 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr) rs865806299 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.603+3A>G rs1727609864 0.00001
NM_025132.4(WDR19):c.621C>T (p.Gly207=) rs1330119254 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr) rs1371153516 0.00001
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys) rs755629699 0.00001
NM_025132.4(WDR19):c.716+12A>G rs779700299 0.00001
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu) rs372022021 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) rs763697118 0.00001
NM_025132.4(WDR19):c.931G>A (p.Val311Ile) rs1300934052 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NC_000001.10:g.(?_243303219)_(245027609_?)dup
NC_000001.10:g.(?_243349541)_(243419562_?)dup
NC_000001.10:g.(?_243437825)_(243437978_?)del
NC_000001.10:g.(?_243456373)_(243456541_?)del
NC_000001.10:g.(?_243493822)_(243494014_?)dup
NC_000001.10:g.(?_243504321)_(243507653_?)del
NC_000001.10:g.(?_243507497)_(243507653_?)del
NC_000001.10:g.(?_243578984)_(243589880_?)del
NC_000001.10:g.(?_243589709)_(243589880_?)del
NC_000004.11:g.(?_39184178)_(39259194_?)dup
NC_000004.11:g.(?_39226484)_(39226673_?)del
NC_000004.11:g.(?_39245868)_(39259174_?)del
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.(?_117261473)_(117342771_?)dup
NC_000011.9:g.(?_117278705)_(117284975_?)del
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1567+2_*2del
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
NM_006642.5(SDCCAG8):c.1069-3C>T
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met) rs1471866292
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) rs2074516888
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn) rs2149349477
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=) rs778405068
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
NM_006642.5(SDCCAG8):c.1221+4C>G
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) rs2067972241
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe) rs370072966
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly) rs1364309751
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg) rs1015302300
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His) rs2067972892
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys) rs1250974056
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg) rs2147791053
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr) rs775752533
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys) rs2075566223
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly) rs2147791136
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val) rs1558382581
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe) rs2067973932
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys) rs999154575
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg) rs1032332223
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser) rs2080530513
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=) rs2080533501
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg) rs2067975157
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln) rs1201744229
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val) rs766677544
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn) rs2148018533
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His) rs2148043381
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn) rs1262692904
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln) rs2148267381
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
NM_006642.5(SDCCAG8):c.2112+2T>C
NM_006642.5(SDCCAG8):c.2113-1G>T
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile) rs1669058410
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup) rs1268199421
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser) rs143447584
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser) rs1284369812
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del) rs751190536
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro) rs2149268706
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe) rs773522256
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.420+5G>A
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val) rs371179612
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe) rs1453249734
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His) rs1398602761
NM_006642.5(SDCCAG8):c.547-3T>C
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala) rs750128305
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe) rs1182767716
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser) rs2149295739
NM_006642.5(SDCCAG8):c.675+5G>C rs968117633
NM_006642.5(SDCCAG8):c.676-3T>C
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro) rs776422346
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly) rs2067967236
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu) rs2149319564
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro) rs2072330865
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly) rs1179385721
NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter) rs1558269718
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn) rs2149262996
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser) rs2072347543
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro) rs2073277628
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup) rs1365929568
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580
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)
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His) rs534853218
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val) rs766910538
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp) rs769747675
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His) rs375416303
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys) rs2100920979
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del) rs751681273
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg) rs747951355
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly) rs1642710907
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu) rs184961418
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys) rs764323785
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys) rs778087914
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp) rs1387983031
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) rs1417370808
NM_015102.5(NPHP4):c.673+5G>T rs1346224220
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) rs752644932
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
NM_015102.5(NPHP4):c.96G>T (p.Gln32His) rs776102193
NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp) rs1574887966
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser) rs1729016178
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val) rs1064797308
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile) rs2109326721
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile) rs2109327092
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr) rs2109740507
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
NM_025132.4(WDR19):c.1323T>A (p.Ala441=) rs2109329846
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile) rs1368404511
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro) rs1729154313
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile) rs760418892
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu) rs760418892
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
NM_025132.4(WDR19):c.1356+4A>G
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser) rs1729252548
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del) rs763535788
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val) rs2109331852
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg) rs2109349675
NM_025132.4(WDR19):c.1537C>A (p.His513Asn) rs2109349795
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser) rs2109357664
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu) rs1469699848
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe) rs1245108212
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu) rs2109358423
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys) rs2109250538
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr) rs2109358802
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile) rs2109358802
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp) rs2109358945
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala) rs2109358967
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu) rs780621466
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) rs1577943470
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val) rs2109366909
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln) rs1730907908
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
NM_025132.4(WDR19):c.2143-12T>G
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro) rs2109368181
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) rs1307951215
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser) rs372232320
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg) rs2109368525
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2302C>A (p.His768Asn) rs2109377406
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) rs1249345016
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) rs1731220593
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr) rs200354828
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp) rs780435361
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val) rs750584650
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr) rs1168307194
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile) rs1175997746
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val) rs2109405829
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
NM_025132.4(WDR19):c.2562+19_2562+28del
NM_025132.4(WDR19):c.2562+5T>C
NM_025132.4(WDR19):c.2563-3T>C
NM_025132.4(WDR19):c.2563-6T>C rs1213227553
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp) rs2109406612
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu) rs2109406828
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) rs2109406888
NM_025132.4(WDR19):c.2646-16G>A
NM_025132.4(WDR19):c.2646-9C>T
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val) rs1328854619
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe) rs2109410308
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala) rs1732419230
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
NM_025132.4(WDR19):c.2684C>A (p.Pro895His) rs774529884
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.270C>T (p.Ser90=) rs1725957452
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr) rs778487491
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu) rs1171033092
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) rs1317389016
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
NM_025132.4(WDR19):c.2941A>C (p.Asn981His) rs1486655648
NM_025132.4(WDR19):c.2977A>G (p.Met993Val) rs1733514837
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr) rs750227475
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu) rs1381022232
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=) rs1733517192
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys) rs759424617
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu) rs1224983700
NM_025132.4(WDR19):c.3114+4A>G
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr) rs1387754769
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys) rs2109452251
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) rs756862143
NM_025132.4(WDR19):c.3183+3A>G
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro) rs2109483428
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val) rs1394317306
NM_025132.4(WDR19):c.3262-8T>C
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly) rs2109264662
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val) rs1734985961
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu) rs755327576
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr) rs915717367
NM_025132.4(WDR19):c.3358+12A>G rs2109490722
NM_025132.4(WDR19):c.3359-5T>A
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val) rs1735186262
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly) rs2109496811
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg) rs2109496840
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr) rs2109497125
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly) rs2109497278
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) rs1735198326
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val) rs371474583
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn) rs765379022
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser) rs755139948
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser) rs1277873234
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile) rs2109264782
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg) rs2109514971
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu) rs573727744
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys) rs2109264795
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) rs1735978246
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met) rs1735983084
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) rs1438498947
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met) rs1301360733
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
NM_025132.4(WDR19):c.3913_3917+1dup rs1736099193
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile) rs1736142058
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr) rs1736145510
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs) rs2109526590
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) rs745506402
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
NM_025132.4(WDR19):c.522+8A>G
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly) rs1445634325
NM_025132.4(WDR19):c.603+17A>G rs2109296086
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu) rs1727819329
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro) rs2109740775
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile) rs1727822059
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
NM_025132.4(WDR19):c.7-5T>G rs1725441027
NM_025132.4(WDR19):c.716+4T>A rs2109300292
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser) rs1727857328
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala) rs2109740825
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser) rs1727870637
NM_025132.4(WDR19):c.812C>T (p.Ala271Val) rs981943939
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu) rs1727876160
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) rs1577897014

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.