ClinVar Miner

List of variants in gene BBS10 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 841
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_024685.4(BBS10):c.*498A>G rs79517322 0.06435
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.4(BBS10):c.*805T>C rs73390067 0.04252
NM_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_024685.4(BBS10):c.*1248A>G rs115516881 0.01249
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024685.4(BBS10):c.*955T>C rs141408782 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_024685.4(BBS10):c.*632T>C rs78402495 0.00073
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_024685.4(BBS10):c.*106C>T rs886049847 0.00045
NM_024685.4(BBS10):c.*947G>T rs533206499 0.00042
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024685.4(BBS10):c.*529C>T rs571517922 0.00032
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024685.4(BBS10):c.*1197A>G rs1021806409 0.00024
NM_024685.4(BBS10):c.*773T>C rs549588883 0.00024
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024685.4(BBS10):c.*1250A>G rs182439491 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024685.4(BBS10):c.*734G>T rs750187536 0.00011
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_024685.4(BBS10):c.-48C>G rs752162179 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024685.4(BBS10):c.*1325T>C rs571032291 0.00006
NM_024685.4(BBS10):c.1188T>C (p.Ser396=) rs143903199 0.00006
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024685.4(BBS10):c.*1164A>G rs922929416 0.00004
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.163C>T (p.Leu55=) rs887761680 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.936T>C (p.Ser312=) rs142630760 0.00004
NM_024685.4(BBS10):c.*1140A>G rs886049842 0.00003
NM_024685.4(BBS10):c.*1204T>A rs886049839 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.197+11C>A rs766419844 0.00003
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile) rs773540960 0.00003
NM_024685.4(BBS10):c.198-19T>A rs368334772 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.756T>C (p.Asp252=) rs762540567 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr) rs761897354 0.00002
NM_024685.4(BBS10):c.1041T>C (p.Gly347=) rs747390360 0.00002
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.1215T>G (p.Gly405=) rs751592378 0.00002
NM_024685.4(BBS10):c.1230T>G (p.His410Gln) rs1447555059 0.00002
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly) rs760904517 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.1437A>G (p.Ala479=) rs201701959 0.00002
NM_024685.4(BBS10):c.1438T>C (p.Leu480=) rs746529935 0.00002
NM_024685.4(BBS10):c.1527C>G (p.Pro509=) rs762271852 0.00002
NM_024685.4(BBS10):c.1572A>G (p.Thr524=) rs1271927802 0.00002
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys) rs765785183 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.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu) rs757995171 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.63G>A (p.Leu21=) rs779366264 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.788C>T (p.Thr263Ile) rs746826888 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.*1041G>T rs1184051032 0.00001
NM_024685.4(BBS10):c.*1113G>C rs1432385652 0.00001
NM_024685.4(BBS10):c.*119G>A rs886049846 0.00001
NM_024685.4(BBS10):c.*264A>T rs556444502 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu) rs938066133 0.00001
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe) rs1289641509 0.00001
NM_024685.4(BBS10):c.1134C>T (p.Ser378=) rs764371181 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1197T>C (p.Leu399=) rs974452621 0.00001
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg) rs1951762407 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1218C>G (p.Leu406=) rs758194221 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1401G>A (p.Arg467=) rs1951760279 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.1416A>G (p.Thr472=) rs1345667368 0.00001
NM_024685.4(BBS10):c.144C>T (p.Ser48=) rs1354665984 0.00001
NM_024685.4(BBS10):c.1477T>C (p.Leu493=) rs543722869 0.00001
NM_024685.4(BBS10):c.1506A>G (p.Thr502=) rs201022680 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly) rs1951758303 0.00001
NM_024685.4(BBS10):c.1593C>T (p.Asn531=) rs780123311 0.00001
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser) rs1444034224 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 0.00001
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224 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.1866T>C (p.His622=) rs1167846126 0.00001
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile) rs144428139 0.00001
NM_024685.4(BBS10):c.190A>G (p.Ile64Val) rs755814743 0.00001
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079 0.00001
NM_024685.4(BBS10):c.1959C>T (p.Ser653=) rs764088306 0.00001
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly) rs780874811 0.00001
NM_024685.4(BBS10):c.197+5C>T rs754503828 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.1978A>C (p.Arg660=) rs145838463 0.00001
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.198-4A>G rs1292242567 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_024685.4(BBS10):c.2070A>G (p.Ser690=) rs750972045 0.00001
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu) rs202134724 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter) rs959224608 0.00001
NM_024685.4(BBS10):c.2166A>G (p.Glu722=) rs747553162 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala) rs899733320 0.00001
NM_024685.4(BBS10):c.237A>G (p.Thr79=) rs774437650 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.292C>A (p.His98Asn) rs748465517 0.00001
NM_024685.4(BBS10):c.327G>A (p.Met109Ile) rs1051916652 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.340del (p.Gln114fs) rs1191479533 0.00001
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala) rs147432159 0.00001
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile) rs1254886838 0.00001
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg) rs936655028 0.00001
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe) rs766572403 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.397C>G (p.Leu133Val) rs750446869 0.00001
NM_024685.4(BBS10):c.411G>T (p.Gln137His) rs775342373 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.450T>C (p.Ser150=) rs573346325 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.630A>T (p.Val210=) rs759791957 0.00001
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr) rs1316090880 0.00001
NM_024685.4(BBS10):c.661T>C (p.Leu221=) rs768544411 0.00001
NM_024685.4(BBS10):c.681C>T (p.Gly227=) rs886049851 0.00001
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro) rs777951931 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.753A>G (p.Ala251=) rs766065990 0.00001
NM_024685.4(BBS10):c.763A>G (p.Met255Val) rs772739860 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg) rs1396450993 0.00001
NM_024685.4(BBS10):c.840A>G (p.Glu280=) rs751973161 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024685.4(BBS10):c.85G>T (p.Val29Leu) rs752267054 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024685.4(BBS10):c.942A>G (p.Lys314=) rs748249273 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NM_024685.4(BBS10):c.996G>A (p.Glu332=) rs756848031 0.00001
NC_000012.11:g.(?_76739593)_(76742138_?)dup
NC_000012.12:g.(?_76345803)_(76348368_?)del
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*48G>C rs1951752530
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter) rs1555202656
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly) rs752630373
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs) rs1057516998
NM_024685.4(BBS10):c.1014A>G (p.Glu338=) rs2136090679
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.1024del (p.Ile342fs) rs765561672
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr) rs1951764046
NM_024685.4(BBS10):c.1026C>T (p.Ile342=) rs2136090671
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile) rs779201114
NM_024685.4(BBS10):c.1056del (p.Pro353fs) rs1057516623
NM_024685.4(BBS10):c.1059A>G (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.1059A>T (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.105A>G (p.Gln35=)
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
NM_024685.4(BBS10):c.1077G>A (p.Gln359=) rs2136090625
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer) rs2136090624
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys) rs1565809819
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1095T>C (p.Thr365=)
NM_024685.4(BBS10):c.1101G>A (p.Leu367=)
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser) rs1951763406
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1125C>T (p.Ile375=) rs762785764
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe) rs1951763168
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=) rs1340165752
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs) rs1555202642
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly) rs2136090562
NM_024685.4(BBS10):c.1149T>C (p.His383=)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
NM_024685.4(BBS10):c.1167A>G (p.Thr389=)
NM_024685.4(BBS10):c.1170T>C (p.Cys390=)
NM_024685.4(BBS10):c.1173A>G (p.Ala391=)
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1185C>T (p.His395=) rs863224793
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.1188T>G (p.Ser396=) rs143903199
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs) rs1057517206
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
NM_024685.4(BBS10):c.1197T>A (p.Leu399=) rs974452621
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1203A>T (p.Gly401=) rs1951762391
NM_024685.4(BBS10):c.1218C>T (p.Leu406=) rs758194221
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
NM_024685.4(BBS10):c.1236T>C (p.Asp412=) rs2136090480
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1248A>G (p.Gly416=) rs2136090464
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1254T>C (p.Leu418=) rs920762954
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu) rs1951761840
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
NM_024685.4(BBS10):c.126T>G (p.Thr42=) rs1467112927
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
NM_024685.4(BBS10):c.1284T>A (p.Leu428=) rs1382756940
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs) rs2136090423
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu) rs987403283
NM_024685.4(BBS10):c.129C>A (p.Gly43=) rs2136091554
NM_024685.4(BBS10):c.12T>C (p.Ser4=)
NM_024685.4(BBS10):c.1308C>G (p.Thr436=)
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter) rs1310735399
NM_024685.4(BBS10):c.1314C>T (p.Asp438=) rs2136090402
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1317A>G (p.Gln439=)
NM_024685.4(BBS10):c.1320T>C (p.Asn440=) rs2136090393
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
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.1336T>C (p.Phe446Leu)
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1338T>C (p.Phe446=) rs941842098
NM_024685.4(BBS10):c.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.1349A>G (p.Asn450Ser)
NM_024685.4(BBS10):c.135G>C (p.Val45=)
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=) rs778731343
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) rs778731343
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe) rs1951778317
NM_024685.4(BBS10):c.1374A>G (p.Pro458=) rs778415408
NM_024685.4(BBS10):c.1383T>A (p.Gly461=)
NM_024685.4(BBS10):c.1383T>C (p.Gly461=) rs903725118
NM_024685.4(BBS10):c.138T>C (p.Leu46=) rs2136091543
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1392A>G (p.Ser464=)
NM_024685.4(BBS10):c.1395A>C (p.Ile465=) rs2136090313
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
NM_024685.4(BBS10):c.1408del (p.Gln470fs) rs1555202614
NM_024685.4(BBS10):c.1416A>C (p.Thr472=) rs1345667368
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) rs763473990
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
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.1455A>T (p.Thr485=) rs1951759523
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu) rs1478926935
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr) rs886049850
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.147G>T (p.Arg49=)
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs) rs1555202607
NM_024685.4(BBS10):c.1494A>G (p.Val498=) rs1048483339
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=) rs1951759072
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.1515G>A (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1515G>C (p.Pro505=)
NM_024685.4(BBS10):c.1515G>T (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1527C>T (p.Pro509=) rs762271852
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
NM_024685.4(BBS10):c.1530A>G (p.Thr510=) rs1951758841
NM_024685.4(BBS10):c.1531C>T (p.Leu511=) rs2136090156
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
NM_024685.4(BBS10):c.1533del (p.Thr512fs) rs773864735
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
NM_024685.4(BBS10):c.1538dup (p.Thr514fs) rs1555202599
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter) rs1951758601
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs) rs2136090126
NM_024685.4(BBS10):c.1557A>G (p.Thr519=) rs2136090123
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1566G>T (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.156C>A (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.156C>T (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.1572A>C (p.Thr524=) rs1271927802
NM_024685.4(BBS10):c.1572A>T (p.Thr524=)
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
NM_024685.4(BBS10):c.1582T>C (p.Leu528=)
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser) rs2136090095
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
NM_024685.4(BBS10):c.1599A>G (p.Leu533=)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val) rs1951758028
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His) rs2136090060
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
NM_024685.4(BBS10):c.1620A>G (p.Leu540=) rs1592491670
NM_024685.4(BBS10):c.1623C>G (p.Leu541=) rs2136090043
NM_024685.4(BBS10):c.1623C>T (p.Leu541=)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.162C>T (p.Leu54=)
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
NM_024685.4(BBS10):c.1641T>G (p.Ala547=) rs2136090029
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter) rs2136090024
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
NM_024685.4(BBS10):c.1656A>C (p.Gly552=) rs2136090019
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
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.1677C>T (p.Tyr559=) rs375413604
NM_024685.4(BBS10):c.1683T>C (p.Asn561=)
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
NM_024685.4(BBS10):c.1686A>G (p.Leu562=)
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter) rs1555202583
NM_024685.4(BBS10):c.168G>A (p.Glu56=)
NM_024685.4(BBS10):c.1695A>G (p.Thr565=) rs1361225928
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1698T>C (p.Asn566=)
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.1704T>C (p.Thr568=)
NM_024685.4(BBS10):c.1716C>T (p.Ser572=)
NM_024685.4(BBS10):c.171G>A (p.Ala57=)
NM_024685.4(BBS10):c.171G>C (p.Ala57=)
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1725A>C (p.Pro575=)
NM_024685.4(BBS10):c.1740A>G (p.Leu580=) rs2136089948
NM_024685.4(BBS10):c.1747A>G (p.Met583Val) rs2136089937
NM_024685.4(BBS10):c.174A>G (p.Leu58=) rs2136091515
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val) rs1264836197
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
NM_024685.4(BBS10):c.1806A>G (p.Val602=) rs1951756000
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
NM_024685.4(BBS10):c.1809T>C (p.Gly603=) rs2136089890
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala) rs1951755940
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs) rs2136089877
NM_024685.4(BBS10):c.1824C>T (p.Ile608=) rs753129922
NM_024685.4(BBS10):c.1825T>C (p.Leu609=) rs2136089870
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
NM_024685.4(BBS10):c.1827G>A (p.Leu609=) rs376793096
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) rs1555202572
NM_024685.4(BBS10):c.1834del (p.Tyr612fs) rs2136089858
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys) rs749876979
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
NM_024685.4(BBS10):c.1854C>T (p.Ala618=) rs2136089834
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu) rs768385647
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr) rs371540031
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu) rs2136091508
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly) rs12099880
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val) rs113224628
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile) rs777954013
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val) rs777954013
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
NM_024685.4(BBS10):c.1929C>T (p.Val643=) rs779691612
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
NM_024685.4(BBS10):c.1941T>C (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1944A>G (p.Lys648=)
NM_024685.4(BBS10):c.1947A>G (p.Thr649=) rs2136089752
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1950A>C (p.Gly650=) rs1369234749
NM_024685.4(BBS10):c.1952del (p.Lys651fs) rs1555202562
NM_024685.4(BBS10):c.1953G>A (p.Lys651=)
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.1956C>T (p.Tyr652=) rs1951754581
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
NM_024685.4(BBS10):c.197+18G>A
NM_024685.4(BBS10):c.197+1G>A rs886042729
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.197+20T>A
NM_024685.4(BBS10):c.197+4C>T rs886049852
NM_024685.4(BBS10):c.197+7G>T rs1433969081
NM_024685.4(BBS10):c.1971A>G (p.Thr657=) rs2136089728
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys) rs886049848
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe) rs886049848
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
NM_024685.4(BBS10):c.198-12T>G rs1951774646
NM_024685.4(BBS10):c.198-12dup rs764036894
NM_024685.4(BBS10):c.198-17A>G
NM_024685.4(BBS10):c.198-17_198-14del rs776677235
NM_024685.4(BBS10):c.198-18T>G
NM_024685.4(BBS10):c.198-19T>G
NM_024685.4(BBS10):c.198-6G>A rs746527914
NM_024685.4(BBS10):c.198-7T>C rs2136091344
NM_024685.4(BBS10):c.198-7del
NM_024685.4(BBS10):c.198-8T>C
NM_024685.4(BBS10):c.198-9T>G rs2136091348
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
NM_024685.4(BBS10):c.1989T>C (p.His663=)
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr) rs750428156
NM_024685.4(BBS10):c.2040A>G (p.Ser680=) rs1201858558
NM_024685.4(BBS10):c.2044dup (p.Met682fs) rs2136089682
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=) rs752574665
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
NM_024685.4(BBS10):c.2059C>T (p.Leu687=) rs968389636
NM_024685.4(BBS10):c.2061A>G (p.Leu687=)
NM_024685.4(BBS10):c.2062C>T (p.Leu688=)
NM_024685.4(BBS10):c.2070A>T (p.Ser690=)
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) rs1555202546
NM_024685.4(BBS10):c.2085G>A (p.Leu695=) rs2136089656
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn) rs1565809262
NM_024685.4(BBS10):c.2095T>C (p.Leu699=)
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2103T>C (p.Ile701=) rs2136089643
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
NM_024685.4(BBS10):c.210C>T (p.Asp70=) rs757062257
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.2130C>T (p.His710=)
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) rs1555202538
NM_024685.4(BBS10):c.2139A>G (p.Lys713=) rs2136089616
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
NM_024685.4(BBS10):c.2146A>C (p.Asn716His) rs1951753000
NM_024685.4(BBS10):c.214_215del (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val) rs1003705267
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly) rs1216242140
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs) rs1555202737
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.258del (p.Phe86fs) rs1951773957
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
NM_024685.4(BBS10):c.270T>C (p.Leu90=) rs200390697
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
NM_024685.4(BBS10):c.288A>G (p.Gly96=) rs2136091268
NM_024685.4(BBS10):c.299_305del (p.Ile100fs) rs1057516701
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
NM_024685.4(BBS10):c.306_309del (p.Asp102fs) rs745497072
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
NM_024685.4(BBS10):c.309A>G (p.Arg103=) rs745374133
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.315G>A (p.Lys105=)
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
NM_024685.4(BBS10):c.320del (p.Pro107fs) rs1555202731
NM_024685.4(BBS10):c.326T>C (p.Met109Thr) rs2136091232
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr) rs2136091229
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
NM_024685.4(BBS10):c.336C>T (p.Asn112=) rs1951771752
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu) rs1951771611
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala) rs1951771611
NM_024685.4(BBS10):c.357T>C (p.His119=) rs201401485
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
NM_024685.4(BBS10):c.35dup (p.Ala13fs) rs2136091633
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter) rs1057516240
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr) rs2136091207
NM_024685.4(BBS10):c.36G>A (p.Lys12=) rs2136091631
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter) rs1057516753
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter) rs1565810183
NM_024685.4(BBS10):c.391del (p.Gln131fs)
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu) rs769181256
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter) rs2136091166
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
NM_024685.4(BBS10):c.414del (p.Gln139fs) rs1555202717
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
NM_024685.4(BBS10):c.421T>C (p.Leu141=) rs2136091159
NM_024685.4(BBS10):c.426C>T (p.Asp142=) rs770799633
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter) rs199998327
NM_024685.4(BBS10):c.445C>T (p.Leu149=) rs758553544
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg) rs573346325
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
NM_024685.4(BBS10):c.455_456del (p.His152fs) rs2136091120
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.461del (p.Leu154fs)
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.473C>G (p.Ser158Trp)
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
NM_024685.4(BBS10):c.490dup (p.Thr164fs) rs2136091086
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
NM_024685.4(BBS10):c.510A>G (p.Leu170=) rs2136091058
NM_024685.4(BBS10):c.513G>A (p.Glu171=)
NM_024685.4(BBS10):c.522A>G (p.Leu174=) rs2136091055
NM_024685.4(BBS10):c.524_526del (p.Glu175del) rs2136091044
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.534T>C (p.Phe178=)
NM_024685.4(BBS10):c.534_535del (p.Phe178fs) rs1555202698
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter) rs574032499
NM_024685.4(BBS10):c.544G>C (p.Val182Leu) rs890996897
NM_024685.4(BBS10):c.54C>A (p.Ala18=) rs772653493
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile) rs1239540905
NM_024685.4(BBS10):c.564A>G (p.Lys188=) rs1951768043
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu) rs1951767969
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
NM_024685.4(BBS10):c.577T>C (p.Leu193=) rs1951767890
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
NM_024685.4(BBS10):c.579G>A (p.Leu193=) rs2136091005
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.597C>T (p.Phe199=)
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter) rs1951767589
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
NM_024685.4(BBS10):c.600G>A (p.Lys200=)
NM_024685.4(BBS10):c.60G>C (p.Val20=)
NM_024685.4(BBS10):c.60G>T (p.Val20=)
NM_024685.4(BBS10):c.621G>A (p.Gly207=) rs2136090980
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys) rs1396355979
NM_024685.4(BBS10):c.627T>A (p.Gly209=) rs2136090970
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
NM_024685.4(BBS10):c.630A>G (p.Val210=) rs759791957
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
NM_024685.4(BBS10):c.69C>T (p.Ala23=) rs2136091596
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
NM_024685.4(BBS10):c.708A>G (p.Ile236Met) rs1193290653
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
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.72C>T (p.Ile24=) rs754188249
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys) rs1242888821
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.750A>G (p.Pro250=) rs2136090884
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
NM_024685.4(BBS10):c.762C>T (p.Asp254=) rs2136090876
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
NM_024685.4(BBS10):c.784_785del (p.Glu262fs) rs1555202681
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser) rs1236502453
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
NM_024685.4(BBS10):c.800T>A (p.Leu267His) rs1592492358
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
NM_024685.4(BBS10):c.804T>C (p.Phe268=) rs770050659
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
NM_024685.4(BBS10):c.813T>C (p.Ser271=)
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.816A>G (p.Gly272=)
NM_024685.4(BBS10):c.837A>G (p.Ser279=) rs2136090820
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter) rs1555202801
NM_024685.4(BBS10):c.843A>C (p.Ala281=)
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.855A>T (p.Thr285=) rs1951765525
NM_024685.4(BBS10):c.858T>C (p.Ser286=) rs1592492325
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
NM_024685.4(BBS10):c.876A>G (p.Glu292=) rs2136090796
NM_024685.4(BBS10):c.879G>A (p.Lys293=) rs2136090790
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter) rs2136090788
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
NM_024685.4(BBS10):c.901C>G (p.Leu301Val) rs1555202666
NM_024685.4(BBS10):c.903A>G (p.Leu301=) rs2136090772
NM_024685.4(BBS10):c.904C>T (p.His302Tyr) rs954562822
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.912G>A (p.Gln304=)
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe) rs2136090757
NM_024685.4(BBS10):c.927C>G (p.Leu309=)
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu) rs1486182131
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe) rs1951764875
NM_024685.4(BBS10):c.933T>C (p.Ser311=)
NM_024685.4(BBS10):c.93C>T (p.Pro31=)
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_024685.4(BBS10):c.945A>G (p.Gln315=) rs2136090742
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala) rs2136090741
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys) rs1208975003
NM_024685.4(BBS10):c.951T>C (p.Asp317=)
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.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.963T>C (p.Tyr321=) rs1555202662
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
NM_024685.4(BBS10):c.969A>C (p.Ala323=)
NM_024685.4(BBS10):c.969A>G (p.Ala323=) rs1951764520
NM_024685.4(BBS10):c.975G>A (p.Val325=)
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_024685.4(BBS10):c.999T>C (p.Cys333=) 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

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