NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00031
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
|
rs147718607
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_000549.5(TSHB):c.373del (p.Cys125fs)
|
rs755485552
|
0.00017
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
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_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)
|
rs368260932
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter)
|
rs776886962
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
NM_153240.5(NPHP3):c.958-2A>G
|
rs780148543
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)
|
rs750528020
|
0.00005
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
|
rs182135982
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)
|
rs770403610
|
0.00002
|
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)
|
rs193919340
|
0.00002
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
|
rs766699868
|
0.00002
|
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_153240.5(NPHP3):c.469del (p.Arg157fs)
|
rs773760404
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_000549.5(TSHB):c.162+5G>A
|
rs868637545
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)
|
rs387907152
|
0.00001
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter)
|
rs373844629
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)
|
rs755136231
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)
|
rs753301358
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)
|
rs1490127694
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs)
|
rs1554064102
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
0.00001
|
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)
|
rs397515424
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
|
rs397515621
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
|
rs368138001
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)
|
rs142394051
|
0.00001
|
NM_170784.3(MKKS):c.986-1G>A
|
rs200633158
|
0.00001
|
NM_198525.3(KIF7):c.1019dup (p.Asn341fs)
|
rs1964065704
|
0.00001
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs)
|
rs397518456
|
|
NM_001010892.3(RSPH4A):c.1662+2_1662+5del
|
rs768986129
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001277115.2(DNAH11):c.11968-1G>C
|
rs1783569129
|
|
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)
|
rs1060501464
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)
|
rs1370489117
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.376del (p.Val126fs)
|
rs35129409
|
|
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)
|
rs148891849
|
|
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)
|
rs1436141222
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
|
rs1163532771
|
|
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)
|
rs755616266
|
|
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)
|
rs780438592
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
|
rs758098717
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs)
|
rs1246023978
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001384732.1(CPLANE1):c.1372-2A>G
|
rs886043786
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)
|
rs863225164
|
|
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs)
|
rs863225161
|
|
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs)
|
rs779680371
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
|
rs312262810
|
|
NM_003611.3(OFD1):c.1411+1G>A
|
rs2147027077
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)
|
rs149038104
|
|
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)
|
rs2042674113
|
|
NM_015102.5(NPHP4):c.1271del (p.Lys424fs)
|
rs770306587
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)
|
rs776535691
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)
|
rs1558404443
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015910.7(WDPCP):c.1809_1812+6del
|
rs2103953112
|
|
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)
|
rs367624766
|
|
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)
|
rs786205697
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)
|
rs2105344578
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
NM_024753.5(TTC21B):c.264_267dupTAGA
|
rs748514860
|
|
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)
|
rs2105291970
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025132.4(WDR19):c.641dup (p.Leu214fs)
|
rs587777348
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)
|
rs746478265
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)
|
rs397515340
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
NM_153240.5(NPHP3):c.520-1G>T
|
rs759262253
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_177965.4(CFAP418):c.124del (p.Arg42fs)
|
rs1563477144
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)
|
rs1174553107
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|