ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1290
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) rs764523283 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) rs587777546 0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter) rs515726134 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679 0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680 0.00001
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter) rs1286714661 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) rs111033571 0.00001
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter) rs398124253 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter) rs772536466 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1473+4A>G rs1486200900 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys) rs1856209517 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) rs372092113 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter) rs1951755742 0.00001
NM_024685.4(BBS10):c.340del (p.Gln114fs) rs1191479533 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.504del (p.Leu168fs) rs1224014742 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter) rs1338469029 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.2T>C (p.Met1Thr) rs1302879683 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.24G>A (p.Trp8Ter) rs373396081 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) rs767822498 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.664dup (p.Ala222fs) rs1800897309 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter) rs754448484 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter) rs766087213 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_198428.3(BBS9):c.1175del (p.Ile392fs) rs1815414782 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter) rs748601675 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
BBS2, CYS210FS, TER246
BBS5, 8-BP DEL/7-BP INS, NT263
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
GRCh37/hg19 2q13(chr2:110875689-110967529)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.(?_243303219)_(243456541_?)del
NC_000001.10:g.(?_243335979)_(243419562_?)del
NC_000001.11:g.(?_242268256)_(243843190_?)del
NC_000001.11:g.(?_243415682)_(243415849_?)del
NC_000002.11:g.(?_170336064)_(170336142_?)del
NC_000002.11:g.(?_170349364)_(170350366_?)del
NC_000002.11:g.(?_170359585)_(170361092_?)del
NC_000002.11:g.(?_63401785)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63815425_?)del
NC_000002.11:g.(?_63540363)_(63540466_?)del
NC_000002.11:g.(?_63605501)_(63605664_?)del
NC_000002.11:g.(?_63711718)_(63815425_?)del
NC_000002.11:g.(?_63815311)_(63815405_?)del
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.(?_63378386)_(63404657_?)del
NC_000002.12:g.169477282_169483199del
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
NC_000003.11:g.(?_97194196)_(97510809_?)del
NC_000003.11:g.(?_97486952)_(97516893_?)del
NC_000003.11:g.(?_97498983)_(97516893_?)del
NC_000003.12:g.(?_97768108)_(97768230_?)del
NC_000004.12:g.(?_122741883)_(122744035_?)del
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
NC_000007.13:g.(?_33054342)_(33185996_?)del
NC_000007.13:g.(?_33136085)_(33192483_?)del
NC_000007.13:g.(?_33185855)_(33195324_?)del
NC_000007.13:g.(?_33296828)_(33313588_?)del
NC_000007.13:g.(?_33296828)_(33427776_?)del
NC_000007.13:g.(?_33376033)_(33427776_?)del
NC_000007.13:g.(?_33388660)_(33388802_?)del
NC_000007.13:g.(?_33388660)_(33397627_?)del
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NC_000009.11:g.(?_119380583)_(119495822_?)del
NC_000009.11:g.(?_119460155)_(119508439_?)del
NC_000009.11:g.(?_119461613)_(119523251_?)del
NC_000009.12:g.(?_116618324)_(116805820_?)del
NC_000009.12:g.(?_116697723)_(116699724_?)del
NC_000009.12:g.(?_116697733)_(116699714_?)del
NC_000009.12:g.(?_116697743)_(116699704_?)del
NC_000009.12:g.(?_116697743)_(116820783_?)del
NC_000011.10:g.(?_66510640)_(66523902_?)del
NC_000011.10:g.(?_66510650)_(66511249_?)del
NC_000011.10:g.(?_66510650)_(66524211_?)del
NC_000011.10:g.(?_66519607)_(66521386_?)del
NC_000011.10:g.(?_66523446)_(66524211_?)del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NC_000011.10:g.66515694del
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
NC_000011.9:g.(?_64522783)_(66283694_?)del
NC_000011.9:g.(?_66278111)_(66299528_?)del
NC_000011.9:g.(?_66278131)_(66283424_?)del
NC_000011.9:g.(?_66283001)_(66287229_?)del
NC_000011.9:g.(?_66283154)_(66287229_?)del
NC_000011.9:g.(?_66287078)_(66291105_?)del
NC_000011.9:g.(?_66288721)_(66293683_?)del
NC_000011.9:g.(?_66290917)_(66291363_?)del
NC_000011.9:g.(?_66291682)_(66293673_?)del
NC_000011.9:g.(?_66293041)_(66297307_?)del
NC_000011.9:g.(?_66293574)_(66299508_?)del
NC_000011.9:g.(?_66296758)_(66307295_?)del
NC_000012.12:g.(?_76345803)_(76348368_?)del
NC_000014.8:g.(?_89319295)_(89319420_?)del
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000015.10:g.72708224_72722485del
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
NC_000015.9:g.(?_72978549)_(73029948_?)del
NC_000015.9:g.(?_72978569)_(73009211_?)del
NC_000015.9:g.(?_73004585)_(73004648_?)del
NC_000015.9:g.(?_73015115)_(73020355_?)del
NC_000015.9:g.(?_73015115)_(73024087_?)del
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56226148)_(58768132_?)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NC_000016.9:g.(?_56534756)_(56545206_?)del
NC_000016.9:g.(?_56544751)_(56545216_?)del
NC_000016.9:g.(?_56545061)_(56545206_?)del
NC_000020.11:g.(?_10405227)_(10413534_?)del
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
NM_001278293.3(ARL6):c.185+1G>C rs1559679965
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
NM_001278293.3(ARL6):c.1A>G (p.Met1Val) rs2107977736
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) rs2037147164
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs) rs1057515576
NM_001278293.3(ARL6):c.373dup (p.Ile125fs) rs2037541934
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001278293.3(ARL6):c.506del (p.Gly169fs) rs1402463567
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp) rs104893681
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys) rs2037751886
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn) rs2037752645
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs) rs2149263988
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter) rs201658593
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.741-152G>A rs2072310236
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs) rs1180939705
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs) rs35904234
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs) rs2132075143
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012210.4(TRIM32):c.1685del (p.Gly562fs) rs1564218190
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs) rs2132071763
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter) rs2132072043
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs) rs2132072315
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
NM_012210.4(TRIM32):c.758del (p.Leu253fs) rs1861000401
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter) rs1272966742
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.4428+3A>G rs2148476381
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015910.7(WDPCP):c.1198del (p.Glu400fs)
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs) rs1694365826
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs) rs1281918775
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs) rs2103954534
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs) rs1681413798
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs) rs2104771725
NM_015910.7(WDPCP):c.2078+1G>T rs1673664656
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter) rs2105466704
NM_015910.7(WDPCP):c.76-1G>T rs397704728
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del) rs587777804
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs) rs431825171
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
NM_024649.4:c.160-?_1110+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1025dup (p.Leu343fs) rs2134797289
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
NM_024649.5(BBS1):c.103dup (p.His35fs)
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1214_1215insSVA
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.1235del (p.Gly412fs) rs1856517666
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) rs1856520165
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs) rs1166459319
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
NM_024649.5(BBS1):c.145del (p.Asp49fs) rs1855937296
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1491del (p.Thr498fs) rs2134836723
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter) rs2134836882
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
NM_024649.5(BBS1):c.1614del (p.Leu539fs) rs1856785950
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter) rs1856788934
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.1695+1G>A rs2134841394
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.1A>G (p.Met1Val) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) rs138744839
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.331del (p.Cys111fs)
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) rs1856011993
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) rs2134771631
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>G
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.667del (p.Thr223fs)
NM_024649.5(BBS1):c.688del (p.Val230fs) rs1856141939
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
NM_024649.5(BBS1):c.830+350_1110+217del
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+1G>C
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024649.5(BBS1):c.951+2T>A
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp) rs1363498219
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer) rs2136090624
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs) rs2136090423
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1330del (p.Ser444fs) rs2136090382
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) rs778731343
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.1453dup (p.Thr485fs) rs2136090243
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs) rs1951758972
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter) rs1951758601
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs) rs2136090126
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter) rs2136090024
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs) rs2136089877
NM_024685.4(BBS10):c.1834del (p.Tyr612fs) rs2136089858
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>A rs886042729
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2044dup (p.Met682fs) rs2136089682
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.258del (p.Phe86fs) rs1951773957
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.306_309del (p.Asp102fs) rs745497072
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.313_314del (p.Lys105fs) rs2136091240
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.35dup (p.Ala13fs) rs2136091633
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter) rs1565810183
NM_024685.4(BBS10):c.391del (p.Gln131fs)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter) rs2136091166
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter) rs199998327
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
NM_024685.4(BBS10):c.455_456del (p.His152fs) rs2136091120
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
NM_024685.4(BBS10):c.467del (p.Ile156fs) rs2136091103
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
NM_024685.4(BBS10):c.490dup (p.Thr164fs) rs2136091086
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) rs1318745309
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter) rs1951767589
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter) rs2136090788
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer) rs2136090739
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_025103.4(IFT74):c.371_372del (p.Gln124fs) rs2131541114
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+2T>C
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.180+1G>T
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter) rs1180594304
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3310-1G>A
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.110del (p.Thr37fs) rs2144214319
NM_031885.5(BBS2):c.113del (p.Gly38fs) rs2144214277
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
NM_031885.5(BBS2):c.1161del (p.Ser388fs) rs2144145429
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
NM_031885.5(BBS2):c.118-1G>C rs587777825
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs) rs2144145120
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
NM_031885.5(BBS2):c.1225+1del
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
NM_031885.5(BBS2):c.1572_1575del (p.His525fs) rs2144134877
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
NM_031885.5(BBS2):c.1662dup (p.Thr555fs) rs2144132870
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.175del (p.Gln59fs) rs2144193544
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs) rs1964134678
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter) rs1044072013
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter) rs895581773
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2059+1G>T rs2144095211
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs) rs2144093084
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_031885.5(BBS2):c.263del (p.Gly88fs) rs869025206
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.362del (p.Asn121fs)
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.466del (p.Trp156fs)
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.471+1G>C rs1555523584
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.528del (p.Glu178fs)
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.613-1G>T
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.718-2A>G rs1964413705
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
NM_031885.5(BBS2):c.812del (p.Ala271fs)
NM_031885.5(BBS2):c.892del (p.Arg298fs) rs2144150359
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
NM_031885.5(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.5(BBS2):c.941-1G>C rs777234811
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.973del (p.Arg325fs)
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) rs1553794304
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
NM_033028.5(BBS4):c.1064_1106+97del
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs) rs2065911287
NM_033028.5(BBS4):c.1126dup (p.Leu376fs) rs2065911518
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+1G>T rs1419924139
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter) rs2065331681
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.157-1G>T
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
NM_033028.5(BBS4):c.217del (p.Gln73fs)
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.281del (p.Ala94fs) rs2151023363
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT rs753360929
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
NM_033028.5(BBS4):c.458del (p.Lys153fs)
NM_033028.5(BBS4):c.459+1G>A
NM_033028.5(BBS4):c.469del (p.Gln157fs)
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter) rs1358520224
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.76+2T>C
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
NM_033028.5(BBS4):c.836_842del (p.Cys279fs) rs2151047525
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.929del (p.Leu310fs) rs889012564
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter) rs1567430070
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter) rs2141033426
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
NM_144596.4(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.106dup (p.Tyr36fs) rs2094691095
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
NM_144596.4(TTC8):c.114+1G>T
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
NM_144596.4(TTC8):c.266-2A>G rs2140976096
NM_144596.4(TTC8):c.293del (p.Gly98fs) rs1271312946
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.572del (p.Leu191fs)
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_144596.4(TTC8):c.600dup (p.His201fs)
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter) rs2140999501
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.699del (p.Lys233fs)
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
NM_144596.4(TTC8):c.936del (p.Glu313fs)
NM_152384.2(BBS5):c.925_931del
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A rs1054138918
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.198del (p.Val67fs)
NM_152384.3(BBS5):c.1A>G (p.Met1Val) rs536117380
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.406del (p.Met136fs) rs2105297751
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.444del (p.Asn149fs)
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter) rs2105297825
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_152384.3(BBS5):c.562dup (p.Val188fs)
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter) rs1683644662
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)
NM_152384.3(BBS5):c.655del (p.Ala219fs) rs2105300418
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) rs1471916487
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter) rs2105304338
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
NM_152384.3:c.(?_-60)_(386+1_387-1)del
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter) rs1375925950
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs) rs2150736842
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs) rs2150736854
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
NM_152618.3(BBS12):c.1193dup (p.Asn398fs) rs2150736986
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs) rs2150737232
NM_152618.3(BBS12):c.1455del (p.Asn485fs) rs2150737331
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs) rs2150737344
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs) rs587777802
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1577dup (p.Leu526fs) rs1800926856
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys) rs1800928868
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_152618.3(BBS12):c.168del (p.Glu58fs)
NM_152618.3(BBS12):c.1705del (p.Leu569fs) rs2150737655
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter) rs2150737680
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter) rs1800931751
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs) rs764074545
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter) rs1800933874
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.189del (p.Ser64fs) rs2150735961
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.2019del (p.Trp673fs) rs2150738027
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.27_30del (p.Asn9fs) rs2150735761
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.337_339del (p.Val113del) rs587777801
NM_152618.3(BBS12):c.398del (p.Pro133fs) rs750185673
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
NM_152618.3(BBS12):c.422dup (p.Met141fs) rs1800890010
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.427del (p.Ser143fs)
NM_152618.3(BBS12):c.469_470del (p.Leu157fs) rs2150736228
NM_152618.3(BBS12):c.476del (p.Pro159fs)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
NM_152618.3(BBS12):c.58del (p.Ser20fs) rs2150735809
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer) rs1560706958
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.683del (p.Gln228fs) rs2150736424
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.80del (p.Arg27fs)
NM_152618.3(BBS12):c.867_874del (p.Val290fs) rs2150736605
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.890_893del (p.Ala297fs) rs2150736616
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.925_926del (p.Met309fs) rs1800904262
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly) rs749107412
NM_152618.3(BBS12):c.95del (p.Pro32fs)
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+2T>C
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs) rs2122220131
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.175_176del (p.Gln59fs) rs2122236167
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.763dup (p.Thr255fs) rs2122234387
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_170784.3(MKKS):c.885dup (p.Val296fs)
NM_170784.3(MKKS):c.889dup (p.Ile297fs) rs2122233990
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs) rs2149068932
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1250del (p.Leu417fs) rs2149066862
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.133dup (p.Met45fs)
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter) rs1725385758
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter) rs1394015094
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter) rs2149054103
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-1G>A rs2149048173
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
NM_176824.3(BBS7):c.488del (p.Pro163fs) rs2149084861
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
NM_176824.3(BBS7):c.529-1dup rs1726566546
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C
NM_198428.3(BBS9):c.1789+1G>T rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.2097dup (p.Asp700fs) rs2128756914
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
NM_198428.3(BBS9):c.244del (p.Glu82fs) rs2128108391
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
NM_198428.3(BBS9):c.2536del (p.Ile846fs) rs1864348159
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
NM_198428.3(BBS9):c.263+1G>T rs137962929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.621_702+3del
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.751dup (p.Val251fs) rs2128344662
NM_198428.3(BBS9):c.754del (p.Ser252fs) rs2128344706
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
NM_198428.3(BBS9):c.829del (p.Ile277fs)
NM_198428.3(BBS9):c.839dup (p.Met280fs)
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
Single allele

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