|
NM_001321218.2(B9D1):c.473-1G>C
|
rs73980009
|
0.01140
|
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_001277115.2(DNAH11):c.11839+219T>G
|
rs191753047
|
0.00203
|
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
|
NM_001372.4(DNAH9):c.2066C>T (p.Thr689Met)
|
rs145074455
|
0.00133
|
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
|
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)
|
rs199613080
|
0.00088
|
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
|
NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu)
|
rs71389806
|
0.00063
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)
|
rs191539779
|
0.00056
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
|
NM_025103.4(IFT74):c.902C>T (p.Pro301Leu)
|
rs78753648
|
0.00052
|
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
|
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln)
|
rs201503269
|
0.00042
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
|
NM_033028.5(BBS4):c.864G>A (p.Ala288=)
|
rs141345544
|
0.00022
|
|
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)
|
rs147882975
|
0.00022
|
|
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
|
rs149626732
|
0.00021
|
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
0.00018
|
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
|
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)
|
rs200329273
|
0.00016
|
|
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)
|
rs558813240
|
0.00016
|
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
|
NM_024649.5(BBS1):c.1474-8C>T
|
rs398124402
|
0.00013
|
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00008
|
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
|
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)
|
rs928335497
|
0.00006
|
|
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)
|
rs189851617
|
0.00006
|
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
|
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)
|
rs567175904
|
0.00006
|
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
|
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)
|
rs376537695
|
0.00004
|
|
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
|
rs201158536
|
0.00004
|
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
|
NM_170784.3(MKKS):c.464G>A (p.Arg155His)
|
rs138111422
|
0.00003
|
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
|
NM_015202.5(KATNIP):c.2722C>T (p.Arg908Cys)
|
rs746045665
|
0.00002
|
|
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)
|
rs770733075
|
0.00002
|
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
|
NM_001372.4(DNAH9):c.4778A>G (p.Tyr1593Cys)
|
rs778538874
|
0.00001
|
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
|
NM_015512.5(DNAH1):c.245del (p.Leu82fs)
|
rs1701192142
|
0.00001
|
|
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)
|
rs760562906
|
0.00001
|
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
|
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)
|
rs1244721977
|
0.00001
|
|
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
0.00001
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
|
NM_001195305.3(BBIP1):c.-57+4A>C
|
|
|
|
NM_001278293.3(ARL6):c.-27-3C>T
|
|
|
|
NM_001278293.3(ARL6):c.254+1371G>A
|
|
|
|
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)
|
rs778780449
|
|
|
NM_001369.3(DNAH5):c.2260-2552G>T
|
|
|
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
|
|
|
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
|
|
|
|
NM_001375405.1(CEP120):c.50-2113_206+103del
|
|
|
|
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
|
rs767799669
|
|
|
NM_001378454.1(ALMS1):c.10384+1632G>A
|
|
|
|
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
|
|
|
|
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
|
|
|
|
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr)
|
rs1674969661
|
|
|
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
|
|
|
|
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
|
|
|
|
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
|
|
|
|
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
|
|
|
|
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
|
rs1039388814
|
|
|
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
|
|
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
|
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
|
|
|
|
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
|
|
|
|
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
|
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
|
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
|
rs938557636
|
|
|
NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
|
|
|
|
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
|
rs1572937937
|
|
|
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
|
|
|
|
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
|
|
|
|
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
|
|
|
|
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
|
|
|
|
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
|
|
|
|
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
|
|
|
|
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
|
|
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
|
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
|
rs149928402
|
|
|
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)
|
rs779603114
|
|
|
NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly)
|
rs2142761867
|
|
|
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
|
|
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
|
NM_015662.3(IFT172):c.517G>C (p.Asp173His)
|
|
|
|
NM_015693.4(INTU):c.1305dup (p.Asn436Ter)
|
rs1729889650
|
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
|
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
|
|
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
|
NM_018233.4(OGFOD1):c.1467+11_1467+13del
|
|
|
|
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser)
|
rs759640480
|
|
|
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
|
|
|
|
NM_022436.3(ABCG5):c.576del (p.Ile193fs)
|
|
|
|
NM_024649.5(BBS1):c.1339+163G>A
|
|
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
|
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
|
|
|
|
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
|
|
|
|
NM_025103.4(IFT74):c.152G>A (p.Arg51His)
|
rs73436007
|
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NM_025103.4(IFT74):c.587C>T (p.Ala196Val)
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NM_025114.4(CEP290):c.1624-5T>G
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rs142742071
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NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
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rs200454865
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NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
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rs2038674474
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NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
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NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
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NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
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rs386834158
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NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
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rs764861728
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NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
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NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
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NM_031200.3(CCR9):c.40G>T (p.Ala14Ser)
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NM_031421.5(ODAD4):c.1993_1997del (p.Asn665fs)
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rs2050870332
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NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
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rs1597020018
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NM_033028.5(BBS4):c.460-15T>A
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NM_144596.4(TTC8):c.104C>A (p.Pro35His)
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rs2094691079
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NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
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NM_144596.4(TTC8):c.798+256T>C
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NM_152384.3(BBS5):c.259-3C>G
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rs564412855
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NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
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rs145489987
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NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
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NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
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NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
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NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
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NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
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NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
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NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
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NM_198428.2:c.2115+21712_2521+234del
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NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
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rs1401715737
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NM_198428.3(BBS9):c.1790-1091A>G
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NM_198428.3(BBS9):c.2521+951G>T
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NM_198428.3(BBS9):c.443-37371A>G
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NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
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NM_198428.3(BBS9):c.886+7A>G
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