ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 756
Download table as spreadsheet
HGVS dbSNP
NC_000016.10:g.56520025G>A
NC_000016.10:g.56520070C>T
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001165927.1(MKS1):c.*322G>T rs185405908
NM_001165927.1(MKS1):c.*381A>G rs886053168
NM_001165927.1(MKS1):c.*469C>T rs386465709
NM_001165927.1(MKS1):c.1083C>A (p.Phe361Leu) rs950609840
NM_001165927.1(MKS1):c.1223T>C (p.Val408Ala) rs886053169
NM_001165927.1(MKS1):c.1292C>T (p.Thr431Met) rs367625961
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1476G>A (p.Ser492=) rs368535131
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.1610C>T (p.Pro537Leu) rs771585740
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.233T>C (p.Phe78Ser) rs886053170
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.461G>A (p.Arg154His) rs200149256
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.485+12C>T rs372527189
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.508C>T (p.Arg170Cys) rs559966703
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.614+8G>T rs370117125
NM_001165927.1(MKS1):c.699G>T (p.Thr233=) rs373491923
NM_001165927.1(MKS1):c.72A>G (p.Thr24=) rs886053171
NM_001165927.1(MKS1):c.733G>T (p.Gly245Trp) rs201237547
NM_001165927.1(MKS1):c.783C>A (p.His261Gln) rs201961765
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001252678.1(BBS4):c.-513G>C rs886051465
NM_001278293.3(ARL6):c.*275G>A rs886058939
NM_001278293.3(ARL6):c.*284C>A rs148380165
NM_001278293.3(ARL6):c.*309T>C
NM_001278293.3(ARL6):c.*495C>T
NM_001278293.3(ARL6):c.-137A>C rs192372191
NM_001278293.3(ARL6):c.-146T>C rs886058937
NM_001278293.3(ARL6):c.-207G>A rs189005414
NM_001278293.3(ARL6):c.-71C>G rs777066573
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp)
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile)
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro)
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg) rs886058938
NM_001278293.3(ARL6):c.536-4T>C rs201939836
NM_001365068.1(ASTN2):c.2806+24577T>G rs886063388
NM_001365068.1(ASTN2):c.2806+24653_2806+24656dup rs758130716
NM_001365068.1(ASTN2):c.2806+24713G>T
NM_001365068.1(ASTN2):c.2806+24717T>G
NM_001365068.1(ASTN2):c.2806+24813G>T
NM_001365068.1(ASTN2):c.2806+24821A>G
NM_001365068.1(ASTN2):c.2806+24860T>C rs886063386
NM_001365068.1(ASTN2):c.2806+24915T>C
NM_001365068.1(ASTN2):c.2806+24990G>A rs41266677
NM_001365068.1(ASTN2):c.2806+24993T>A
NM_001365068.1(ASTN2):c.2806+25007A>G rs886063385
NM_001365068.1(ASTN2):c.2806+25132T>C rs886063384
NM_001365068.1(ASTN2):c.2806+25201T>G rs886063383
NM_001365068.1(ASTN2):c.2806+25258del rs886063382
NM_001365068.1(ASTN2):c.2806+25330A>G rs549857802
NM_001365068.1(ASTN2):c.2806+25391C>A
NM_001365068.1(ASTN2):c.2806+25537G>A
NM_001365068.1(ASTN2):c.2806+25555T>A rs144172952
NM_001365068.1(ASTN2):c.2806+25588C>A rs543534409
NM_001365068.1(ASTN2):c.2806+25603G>C
NM_001365068.1(ASTN2):c.2806+25696A>G
NM_001365068.1(ASTN2):c.2806+25755C>G
NM_001365068.1(ASTN2):c.2806+25784C>A rs886063381
NM_001365068.1(ASTN2):c.2806+25817C>G
NM_001365068.1(ASTN2):c.2806+25838G>A
NM_001365068.1(ASTN2):c.2806+25861T>C
NM_001365068.1(ASTN2):c.2806+25890G>A rs149956877
NM_001365068.1(ASTN2):c.2806+25915A>C rs868402796
NM_001365068.1(ASTN2):c.2806+25955C>T rs886063380
NM_001365068.1(ASTN2):c.2806+25983T>G rs571526516
NM_001365068.1(ASTN2):c.2806+26189C>T
NM_001365068.1(ASTN2):c.2806+26309C>A rs886063379
NM_001365068.1(ASTN2):c.2806+26456C>A
NM_001365068.1(ASTN2):c.2806+26571G>A rs141965401
NM_001365068.1(ASTN2):c.2806+26597A>C rs371002754
NM_001365068.1(ASTN2):c.2806+26643C>T rs762905941
NM_001365068.1(ASTN2):c.2806+26646G>A
NM_001365068.1(ASTN2):c.2806+26723T>C
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_001365068.1(ASTN2):c.2806+27369C>G rs3747833
NM_001365068.1(ASTN2):c.2806+27408T>C
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_001365068.1(ASTN2):c.2806+27549C>T rs200196832
NM_001365068.1(ASTN2):c.2806+27620G>A rs200997003
NM_001365068.1(ASTN2):c.2806+27659G>A rs572052810
NM_001365068.1(ASTN2):c.2806+27712C>T
NM_001365068.1(ASTN2):c.2806+27727C>T
NM_001365068.1(ASTN2):c.2806+27737G>T rs201877419
NM_001365068.1(ASTN2):c.2806+27753G>A rs140589523
NM_001365068.1(ASTN2):c.2806+27960G>A rs575633576
NM_001365068.1(ASTN2):c.2806+28002C>G rs201891227
NM_001365068.1(ASTN2):c.2807-35527G>A
NM_001365068.1(ASTN2):c.2807-35546C>T rs752864284
NM_001365068.1(ASTN2):c.2807-35561A>G rs886063378
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.*62_*66dup rs368945100
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-106G>T rs886046328
NM_006642.5(SDCCAG8):c.-121C>T rs768318766
NM_006642.5(SDCCAG8):c.-130C>A rs547776191
NM_006642.5(SDCCAG8):c.-131T>C rs886046327
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.420+12A>G
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554
NM_006642.5(SDCCAG8):c.741-7T>C
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_015910.6(WDPCP):c.-227C>G rs376940318
NM_015910.6(WDPCP):c.-301G>A rs886056227
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*104A>C rs886056222
NM_015910.7(WDPCP):c.*138_*141GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*446C>T rs566014787
NM_015910.7(WDPCP):c.*541C>G rs532612381
NM_015910.7(WDPCP):c.*559G>A
NM_015910.7(WDPCP):c.*582C>G rs184659805
NM_015910.7(WDPCP):c.*586_*587AG[2] rs886056220
NM_015910.7(WDPCP):c.*604_*605del rs886056219
NM_015910.7(WDPCP):c.*634A>G
NM_015910.7(WDPCP):c.-108_-106GCG[6] rs563531309
NM_015910.7(WDPCP):c.-109G>C rs886056226
NM_015910.7(WDPCP):c.-176G>C
NM_015910.7(WDPCP):c.-96G>T
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu) rs780342443
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)
NM_015910.7(WDPCP):c.1923G>A (p.Leu641=) rs886056223
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.208+11T>C rs201607698
NM_015910.7(WDPCP):c.209-1G>A rs767481770
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703
NM_015910.7(WDPCP):c.2158+14A>G
NM_015910.7(WDPCP):c.2159-13T>C rs202221613
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu) rs886056225
NM_015910.7(WDPCP):c.255A>G (p.Ser85=)
NM_015910.7(WDPCP):c.486C>T (p.Asp162=)
NM_015910.7(WDPCP):c.499+9C>T
NM_015910.7(WDPCP):c.628_629TA[3] (p.Lys211fs) rs769674404
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)
NM_015910.7(WDPCP):c.75+13C>T rs182759221
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606
NM_017777.4(MKS1):c.*415G>A
NM_017777.4(MKS1):c.*49C>A
NM_017777.4(MKS1):c.*594T>G
NM_017777.4(MKS1):c.*603T>G
NM_017777.4(MKS1):c.-15C>G
NM_017777.4(MKS1):c.-20C>G
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819
NM_017777.4(MKS1):c.1273+12T>A
NM_017777.4(MKS1):c.1273+4A>G
NM_017777.4(MKS1):c.1408-15A>G
NM_017777.4(MKS1):c.1589-3C>T
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.4(MKS1):c.447C>T (p.Ser149=)
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923
NM_018848.3(MKKS):c.*21A>G rs532973454
NM_018848.3(MKKS):c.*460T>C rs886056496
NM_018848.3(MKKS):c.-159A>G rs566532177
NM_018848.3(MKKS):c.-21C>G rs886056498
NM_018848.3(MKKS):c.-22A>C rs531656259
NM_018848.3(MKKS):c.-306A>G rs3748466
NM_018848.3(MKKS):c.-39A>C rs886056499
NM_018848.3(MKKS):c.-406G>C rs886056500
NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-477G>T rs886056501
NM_018848.3(MKKS):c.-481T>A rs886056502
NM_018848.3(MKKS):c.-495C>A rs536112369
NM_018848.3(MKKS):c.-496T>G rs554863155
NM_018848.3(MKKS):c.-557A>G rs145467994
NM_018848.3(MKKS):c.-562C>T rs886056503
NM_018848.3(MKKS):c.-707C>T rs886056504
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.-835A>T rs541967798
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.1269C>T (p.His423=) rs144313303
NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_018848.3(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_018848.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_018848.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269
NM_018848.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395
NM_018848.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599
NM_018848.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_018848.3(MKKS):c.874C>T (p.Leu292=) rs758645426
NM_024649.5(BBS1):c.*104G>C rs554182779
NM_024649.5(BBS1):c.*1088G>A rs886048531
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.*1217C>A
NM_024649.5(BBS1):c.*1274A>G
NM_024649.5(BBS1):c.*1349T>C
NM_024649.5(BBS1):c.*259C>A
NM_024649.5(BBS1):c.*473C>T rs886048526
NM_024649.5(BBS1):c.*474G>A
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G
NM_024649.5(BBS1):c.*522C>T rs886048528
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*776G>A
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T
NM_024649.5(BBS1):c.*950C>T
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1110+15C>T rs371084544
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076
NM_024649.5(BBS1):c.830+12C>T rs781283997
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
NM_024685.4(BBS10):c.*1041G>T
NM_024685.4(BBS10):c.*106C>T rs886049847
NM_024685.4(BBS10):c.*1113G>C
NM_024685.4(BBS10):c.*1140A>G rs886049842
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1164A>G
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1197A>G
NM_024685.4(BBS10):c.*119G>A rs886049846
NM_024685.4(BBS10):c.*1204T>A rs886049839
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1250A>G rs182439491
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*1325T>C rs571032291
NM_024685.4(BBS10):c.*177T>G rs189856910
NM_024685.4(BBS10):c.*264A>T
NM_024685.4(BBS10):c.*48G>C
NM_024685.4(BBS10):c.*529C>T
NM_024685.4(BBS10):c.*641_*642AT[2] rs886049845
NM_024685.4(BBS10):c.*734G>T
NM_024685.4(BBS10):c.*773T>C rs549588883
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.*947G>T
NM_024685.4(BBS10):c.*955T>C rs141408782
NM_024685.4(BBS10):c.-48C>G rs752162179
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.-66C>T rs886049854
NM_024685.4(BBS10):c.-71C>T rs569445445
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
NM_024685.4(BBS10):c.1203A>T (p.Gly401=)
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu)
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.1516T>A (p.Tyr506Asn)
NM_024685.4(BBS10):c.1566G>T (p.Thr522=)
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.197+4C>T rs886049852
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe) rs886049848
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.1992A>G (p.Ala664=)
NM_024685.4(BBS10):c.270T>G (p.Leu90=)
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344
NM_024685.4(BBS10):c.559C>A (p.His187Asn)
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.969A>G (p.Ala323=)
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.4(CEP290):c.*151T>C
NM_025114.4(CEP290):c.*168A>G
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-147A>T rs753567406
NM_025114.4(CEP290):c.-203C>A
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.-38G>C rs886049886
NM_025114.4(CEP290):c.-41C>T rs759820573
NM_025114.4(CEP290):c.-96C>T rs528270888
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.4(CEP290):c.1360-4T>G rs200328638
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-11T>A rs200666995
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3574-15T>A rs565414938
NM_025114.4(CEP290):c.3574-9T>A
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
NM_025114.4(CEP290):c.5709+12A>G rs371010287
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.4(CEP290):c.6358-5C>T rs372986399
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_031885.3(BBS2):c.-177C>T rs567188429
NM_031885.3(BBS2):c.-178C>T rs548915387
NM_031885.3(BBS2):c.-190G>C rs555974619
NM_031885.4(BBS2):c.*91C>T rs148188874
NM_031885.4(BBS2):c.-133C>T rs886052152
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.-147G>T rs886052154
NM_031885.4(BBS2):c.-161G>A rs886052155
NM_031885.4(BBS2):c.-22C>T rs528287127
NM_031885.4(BBS2):c.-67C>G rs886052151
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1284C>T (p.His428=)
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1486A>G (p.Ile496Val) rs549070573
NM_031885.4(BBS2):c.1527+12G>A rs376715521
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1797+12C>T rs370960689
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.2088T>C (p.Thr696=) rs886052144
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.58G>A (p.Ala20Thr) rs886052150
NM_031885.4(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.78G>A (p.Gly26=) rs759629466
NM_031885.4(BBS2):c.837C>T (p.Val279=) rs748579225
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.5(BBS2):c.*34A>G
NM_031885.5(BBS2):c.-118C>T
NM_031885.5(BBS2):c.1226-11C>T
NM_031885.5(BBS2):c.1397+7C>A
NM_031885.5(BBS2):c.152A>G (p.His51Arg)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_032146.5(ARL6):c.-411A>G
NM_032146.5(ARL6):c.-415C>T
NM_033028.5(BBS4):c.*149C>A rs578051922
NM_033028.5(BBS4):c.*157C>G rs149263274
NM_033028.5(BBS4):c.*159A>G
NM_033028.5(BBS4):c.*200C>T
NM_033028.5(BBS4):c.*36G>A rs376830638
NM_033028.5(BBS4):c.*498T>C
NM_033028.5(BBS4):c.*581T>A
NM_033028.5(BBS4):c.*611C>T rs41277724
NM_033028.5(BBS4):c.*643A>C rs886051469
NM_033028.5(BBS4):c.*65G>A
NM_033028.5(BBS4):c.*737T>C
NM_033028.5(BBS4):c.*770C>T
NM_033028.5(BBS4):c.*783A>G
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.*885T>C rs753912948
NM_033028.5(BBS4):c.-14T>A rs146238636
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770
NM_033028.5(BBS4):c.1107-7G>A rs766664389
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
NM_033028.5(BBS4):c.220+3A>T
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.405+7A>G rs778651927
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_144596.4(TTC8):c.*17A>G
NM_144596.4(TTC8):c.*247T>C rs886050879
NM_144596.4(TTC8):c.*377C>T
NM_144596.4(TTC8):c.*418G>A
NM_144596.4(TTC8):c.*45A>C
NM_144596.4(TTC8):c.*57C>T
NM_144596.4(TTC8):c.*92C>T
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
NM_152618.3(BBS12):c.*185T>C rs545226235
NM_152618.3(BBS12):c.*425C>T
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*582G>T
NM_152618.3(BBS12):c.*804A>G rs151076630
NM_152618.3(BBS12):c.*828A>C rs749924505
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.*859T>A rs886059062
NM_152618.3(BBS12):c.*860G>A
NM_152618.3(BBS12):c.*907T>C
NM_152618.3(BBS12):c.-102C>T
NM_152618.3(BBS12):c.-109G>T rs886059057
NM_152618.3(BBS12):c.-152C>G rs886059056
NM_152618.3(BBS12):c.-157C>T rs886059055
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter) rs1560707645
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser)
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797
NM_152618.3(BBS12):c.1227G>A (p.Val409=)
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.2dup (p.Met1fs) rs1560706193
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
NM_170784.3(MKKS):c.*103A>G
NM_170784.3(MKKS):c.*112C>T
NM_170784.3(MKKS):c.-159A>C
NM_170784.3(MKKS):c.-384C>T
NM_170784.3(MKKS):c.-388A>G
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)
NM_170784.3(MKKS):c.1645C>T (p.Leu549=)
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)
NM_170784.3(MKKS):c.180C>T (p.Ser60=)
NM_170784.3(MKKS):c.329G>T (p.Gly110Val)
NM_176824.3(BBS7):c.*1139T>C rs542533305
NM_176824.3(BBS7):c.*1161A>G
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*1324G>A rs181687808
NM_176824.3(BBS7):c.*1361A>T
NM_176824.3(BBS7):c.*1526C>T rs546122158
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*353G>A
NM_176824.3(BBS7):c.*513C>T rs577071672
NM_176824.3(BBS7):c.*605G>A rs886059051
NM_176824.3(BBS7):c.*709G>C rs886059050
NM_176824.3(BBS7):c.*724C>T
NM_176824.3(BBS7):c.*828A>G
NM_176824.3(BBS7):c.*996T>C rs886059049
NM_176824.3(BBS7):c.-137A>G
NM_176824.3(BBS7):c.-19G>C rs757523715
NM_176824.3(BBS7):c.-98C>T
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1306-5C>T
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
NM_176824.3(BBS7):c.1890+15C>T
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
NM_198309.3(TTC8):c.769-11C>T rs768485587
NM_198428.3(BBS9):c.*12T>C
NM_198428.3(BBS9):c.*29A>G rs373446119
NM_198428.3(BBS9):c.*323A>G
NM_198428.3(BBS9):c.*336A>G rs578208457
NM_198428.3(BBS9):c.*337C>T
NM_198428.3(BBS9):c.*406A>G
NM_198428.3(BBS9):c.*585C>T
NM_198428.3(BBS9):c.*589G>A rs548920550
NM_198428.3(BBS9):c.*729C>T
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.*801G>A
NM_198428.3(BBS9):c.-163G>C rs886062281
NM_198428.3(BBS9):c.-206T>G
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-271G>A rs886062280
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.-397G>A rs561901329
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-447A>C rs886062278
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val)
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
NM_198428.3(BBS9):c.1329+5T>C
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1537+14C>T
NM_198428.3(BBS9):c.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1553-11T>C rs756802547
NM_198428.3(BBS9):c.1611A>C (p.Pro537=)
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)

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