ClinVar Miner

List of variants in gene IFT172 studied for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 952
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_015662.3(IFT172):c.2858G>A (p.Arg953His) rs704793 0.00606
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.4428+5C>G rs114235369 0.00521
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00238
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00099
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln) rs78631901 0.00083
NM_015662.3(IFT172):c.402+8A>C rs184565714 0.00083
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_015662.3(IFT172):c.786-12A>G rs373665754 0.00061
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=) rs534566990 0.00035
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00031
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.258T>C (p.Thr86=) rs369061009 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046 0.00022
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_015662.3(IFT172):c.792G>A (p.Arg264=) rs138730915 0.00020
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131 0.00019
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=) rs143142494 0.00016
NM_015662.3(IFT172):c.98T>C (p.Val33Ala) rs200884031 0.00016
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_015662.3(IFT172):c.1524+20C>T rs201838139 0.00014
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val) rs200961120 0.00014
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His) rs149065251 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_015662.3(IFT172):c.2877+16G>A rs371011283 0.00013
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2343A>G (p.Lys781=) rs374062028 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_015662.3(IFT172):c.918A>G (p.Leu306=) rs746380795 0.00012
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln) rs151097967 0.00011
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser) rs199631887 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2878-13T>C rs374938451 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.337-5C>T rs141086523 0.00010
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=) rs369463180 0.00010
NM_015662.3(IFT172):c.679C>T (p.His227Tyr) rs142857050 0.00010
NM_015662.3(IFT172):c.1006-13G>C rs753018358 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_015662.3(IFT172):c.2122G>A (p.Val708Met) rs140506322 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.337-4G>A rs374002706 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015662.3(IFT172):c.1331G>A (p.Arg444His) rs751965696 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.2103C>A (p.Ile701=) rs138604630 0.00008
NM_015662.3(IFT172):c.2366G>A (p.Arg789Gln) rs148237432 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_015662.3(IFT172):c.1525-19C>T rs764463970 0.00007
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=) rs774451726 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00006
NM_015662.3(IFT172):c.1932G>A (p.Ala644=) rs374357498 0.00006
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu) rs199502476 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015662.3(IFT172):c.1168-7G>A rs373380537 0.00005
NM_015662.3(IFT172):c.1678A>G (p.Met560Val) rs763516858 0.00005
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3372-3C>T rs150011917 0.00005
NM_015662.3(IFT172):c.4436A>G (p.Asn1479Ser) rs757946737 0.00005
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys) rs201356906 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_015662.3(IFT172):c.1100G>A (p.Arg367His) rs755263642 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1326-17C>T rs969211942 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1524+7A>G rs149896944 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.1791C>T (p.Ile597=) rs747273253 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val) rs370407165 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys) rs201991482 0.00004
NM_015662.3(IFT172):c.2443-3C>T rs774328767 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.2943G>A (p.Met981Ile) rs779195226 0.00004
NM_015662.3(IFT172):c.318C>T (p.Cys106=) rs772983278 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.4311+5T>C rs756624999 0.00004
NM_015662.3(IFT172):c.4407C>T (p.His1469=) rs761583320 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.4628C>T (p.Thr1543Met) rs571220836 0.00004
NM_015662.3(IFT172):c.571-10T>C rs753921843 0.00004
NM_015662.3(IFT172):c.861C>T (p.Tyr287=) rs148906663 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys) rs370874046 0.00004
NM_015662.3(IFT172):c.1056C>G (p.His352Gln) rs145847794 0.00003
NM_015662.3(IFT172):c.1222-5C>T rs920680020 0.00003
NM_015662.3(IFT172):c.1325+11A>G rs767955758 0.00003
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg) rs866980509 0.00003
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) rs374979653 0.00003
NM_015662.3(IFT172):c.1585A>G (p.Met529Val) rs745382278 0.00003
NM_015662.3(IFT172):c.1693-15G>A rs1214000278 0.00003
NM_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 0.00003
NM_015662.3(IFT172):c.2873A>C (p.His958Pro) rs748358110 0.00003
NM_015662.3(IFT172):c.297-13T>C rs376856549 0.00003
NM_015662.3(IFT172):c.2975+14C>T rs764978738 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=) rs751712354 0.00003
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys) rs763117647 0.00003
NM_015662.3(IFT172):c.335C>T (p.Thr112Met) rs191146686 0.00003
NM_015662.3(IFT172):c.336G>A (p.Thr112=) rs1158316267 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.4051-9A>G rs772647033 0.00003
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015662.3(IFT172):c.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.4225-18dup rs773571606 0.00003
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp) rs142312837 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met) rs202181028 0.00003
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys) rs768237211 0.00003
NM_015662.3(IFT172):c.631G>A (p.Val211Met) rs757478657 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln) rs779572697 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val) rs774559020 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg) rs746834072 0.00002
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp) rs1350745027 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.15C>T (p.His5=) rs377627847 0.00002
NM_015662.3(IFT172):c.1638G>A (p.Leu546=) rs372659702 0.00002
NM_015662.3(IFT172):c.1655T>C (p.Ile552Thr) rs369863525 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His) rs1667049048 0.00002
NM_015662.3(IFT172):c.183+17T>C rs754011076 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2026G>A (p.Gly676Arg) rs761290683 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2194-7T>C rs569757422 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His) rs375879787 0.00002
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=) rs755900185 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln) rs759282959 0.00002
NM_015662.3(IFT172):c.3229-4A>G rs766026056 0.00002
NM_015662.3(IFT172):c.328A>T (p.Ile110Phe) rs747883999 0.00002
NM_015662.3(IFT172):c.336+14C>T rs780202491 0.00002
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=) rs768705269 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=) rs367670487 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.4051-20G>A rs761286001 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys) rs779981992 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His) rs772212247 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln) rs747215055 0.00002
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser) rs760535770 0.00002
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr) rs759653536 0.00002
NM_015662.3(IFT172):c.4539+10C>T rs778633701 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=) rs371031629 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln) rs777862424 0.00002
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) rs767999703 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_015662.3(IFT172):c.771A>G (p.Leu257=) rs756245677 0.00002
NM_015662.3(IFT172):c.780T>C (p.Tyr260=) rs752770691 0.00002
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.108G>A (p.Val36=) rs1251466028 0.00001
NM_015662.3(IFT172):c.1092A>G (p.Gly364=) rs575297457 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1108G>A (p.Val370Met) rs1186256423 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val) rs781225823 0.00001
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys) rs143661402 0.00001
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys) rs1470090185 0.00001
NM_015662.3(IFT172):c.1242C>T (p.Ala414=) rs970385102 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_015662.3(IFT172):c.1306A>G (p.Met436Val) rs753911273 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln) rs753504432 0.00001
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu) rs763724145 0.00001
NM_015662.3(IFT172):c.1371G>A (p.Lys457=) rs759436301 0.00001
NM_015662.3(IFT172):c.1411+17C>T rs1333168893 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.141A>G (p.Gly47=) rs759962675 0.00001
NM_015662.3(IFT172):c.1443C>T (p.Thr481=) rs780600337 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1512C>T (p.Asp504=) rs746321444 0.00001
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys) rs371011000 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1537G>A (p.Asp513Asn) rs959481954 0.00001
NM_015662.3(IFT172):c.1572C>T (p.Asn524=) rs1208242658 0.00001
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro) rs771614435 0.00001
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu) rs768058682 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp) rs758357901 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.1719C>T (p.Gly573=) rs373009930 0.00001
NM_015662.3(IFT172):c.1731C>G (p.Thr577=) rs369849820 0.00001
NM_015662.3(IFT172):c.1773A>G (p.Thr591=) rs1415381763 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.183+7A>G rs1357322553 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.1935G>A (p.Glu645=) rs755341436 0.00001
NM_015662.3(IFT172):c.1937+10A>G rs544892086 0.00001
NM_015662.3(IFT172):c.2022+13C>T rs905264258 0.00001
NM_015662.3(IFT172):c.2022+7A>G rs773433922 0.00001
NM_015662.3(IFT172):c.2023-18C>T rs780624216 0.00001
NM_015662.3(IFT172):c.2023-7C>T rs758190461 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala) rs746240262 0.00001
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile) rs1400020833 0.00001
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys) rs145946722 0.00001
NM_015662.3(IFT172):c.2115+15G>A rs764321777 0.00001
NM_015662.3(IFT172):c.2127G>A (p.Glu709=) rs752839444 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2175C>T (p.Ile725=) rs535676099 0.00001
NM_015662.3(IFT172):c.2194-3C>T rs906297666 0.00001
NM_015662.3(IFT172):c.2208G>A (p.Leu736=) rs1235366375 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn) rs367874978 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr) rs766853711 0.00001
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser) rs1387032631 0.00001
NM_015662.3(IFT172):c.2427G>A (p.Gly809=) rs760908963 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe) rs374015331 0.00001
NM_015662.3(IFT172):c.2498G>A (p.Arg833His) rs756767071 0.00001
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr) rs752494593 0.00001
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser) rs1443634104 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn) rs1275938087 0.00001
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) rs144450109 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2919A>G (p.Leu973=) rs1480327016 0.00001
NM_015662.3(IFT172):c.2975+8G>A rs750348734 0.00001
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys) rs994624984 0.00001
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=) rs757083011 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys) rs1358114348 0.00001
NM_015662.3(IFT172):c.3094C>T (p.His1032Tyr) rs752920969 0.00001
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=) rs1029240622 0.00001
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln) rs755990223 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly) rs770486522 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.336+20C>G rs1412070265 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3370T>C (p.Cys1124Arg) rs931407294 0.00001
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=) rs369025741 0.00001
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn) rs778306652 0.00001
NM_015662.3(IFT172):c.3465+10T>C rs780429245 0.00001
NM_015662.3(IFT172):c.3465+9G>A rs1665997491 0.00001
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile) rs751230602 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.363G>A (p.Pro121=) rs761759245 0.00001
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=) rs1384062308 0.00001
NM_015662.3(IFT172):c.40-10G>T rs769327900 0.00001
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile) rs755670491 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.407G>A (p.Arg136His) rs763923637 0.00001
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 0.00001
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu) rs963343817 0.00001
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro) rs371612970 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4230G>A (p.Val1410=) rs145041736 0.00001
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu) rs748345321 0.00001
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg) rs1665446592 0.00001
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=) rs754200053 0.00001
NM_015662.3(IFT172):c.42T>C (p.Asp14=) rs1668694687 0.00001
NM_015662.3(IFT172):c.4312-10C>T rs767163406 0.00001
NM_015662.3(IFT172):c.4312-9C>T rs1665420944 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys) rs775476765 0.00001
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr) rs749834823 0.00001
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter) rs1665288663 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4539+18C>T rs771718287 0.00001
NM_015662.3(IFT172):c.4539+6G>A rs745480523 0.00001
NM_015662.3(IFT172):c.4540-13C>T rs1665265846 0.00001
NM_015662.3(IFT172):c.4540-20G>T rs538748702 0.00001
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp) rs758565766 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs) rs1183354903 0.00001
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=) rs901644807 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val) rs1290255701 0.00001
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His) rs746827700 0.00001
NM_015662.3(IFT172):c.4659+18G>A rs757297478 0.00001
NM_015662.3(IFT172):c.516A>G (p.Ala172=) rs1302439397 0.00001
NM_015662.3(IFT172):c.570+19G>A rs761066634 0.00001
NM_015662.3(IFT172):c.582T>C (p.Val194=) rs533475435 0.00001
NM_015662.3(IFT172):c.591G>A (p.Pro197=) rs747654101 0.00001
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg) rs776260844 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.5A>C (p.His2Pro) rs781257867 0.00001
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser) rs1437164423 0.00001
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp) rs773661262 0.00001
NM_015662.3(IFT172):c.690A>G (p.Gln230=) rs892639684 0.00001
NM_015662.3(IFT172):c.6C>T (p.His2=) rs1430470069 0.00001
NM_015662.3(IFT172):c.739G>C (p.Val247Leu) rs144379702 0.00001
NM_015662.3(IFT172):c.785G>T (p.Arg262Met) rs1235295289 0.00001
NM_015662.3(IFT172):c.786-15C>T rs200145274 0.00001
NM_015662.3(IFT172):c.786-16A>G rs769974669 0.00001
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp) rs750783565 0.00001
NM_015662.3(IFT172):c.798C>T (p.Phe266=) rs755850960 0.00001
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln) rs375847990 0.00001
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys) rs766223232 0.00001
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp) rs1246454433 0.00001
NM_015662.3(IFT172):c.909+12G>C rs752407974 0.00001
NM_015662.3(IFT172):c.909G>A (p.Val303=) rs139685481 0.00001
NM_015662.3(IFT172):c.936G>A (p.Gln312=) rs139291216 0.00001
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly) rs751177541 0.00001
NC_000002.11:g.(?_27670372)_(27670799_?)dup
NC_000002.11:g.(?_27681067)_(27687103_?)del
NC_000002.11:g.(?_27686032)_(27686703_?)del
NC_000002.11:g.(?_27688258)_(27688405_?)del
NC_000002.11:g.(?_27693775)_(27695249_?)del
NC_000002.12:g.(?_27462701)_(27463181_?)del
NM_015662.3(IFT172):c.1005+18C>T
NM_015662.3(IFT172):c.1006-14T>A
NM_015662.3(IFT172):c.1006-16C>A
NM_015662.3(IFT172):c.1006-16C>T
NM_015662.3(IFT172):c.1006-19dup rs1455103617
NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
NM_015662.3(IFT172):c.1011T>C (p.Ile337=) rs2148544369
NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter) rs201862538
NM_015662.3(IFT172):c.1039G>A (p.Val347Met) rs773726175
NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
NM_015662.3(IFT172):c.1044G>A (p.Val348=)
NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
NM_015662.3(IFT172):c.1071G>A (p.Val357=)
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala) rs1668096577
NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter)
NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
NM_015662.3(IFT172):c.1115dup (p.His372fs) rs2148544061
NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly) rs1668091082
NM_015662.3(IFT172):c.1167+17A>T
NM_015662.3(IFT172):c.1167+18G>A
NM_015662.3(IFT172):c.1167+20G>A rs2148543898
NM_015662.3(IFT172):c.1167+3A>G rs2148543961
NM_015662.3(IFT172):c.1167+5G>T rs2148543947
NM_015662.3(IFT172):c.1168-12C>T
NM_015662.3(IFT172):c.1168-15C>T rs1668059914
NM_015662.3(IFT172):c.1168-16T>C
NM_015662.3(IFT172):c.1168-17G>A
NM_015662.3(IFT172):c.1168-8C>T
NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
NM_015662.3(IFT172):c.117G>A (p.Val39=)
NM_015662.3(IFT172):c.1197G>A (p.Glu399=) rs2148543008
NM_015662.3(IFT172):c.1198_1200del (p.Lys400del) rs2148542998
NM_015662.3(IFT172):c.1209del (p.Phe403fs) rs2148542989
NM_015662.3(IFT172):c.1222-15C>T
NM_015662.3(IFT172):c.1222-9T>G
NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
NM_015662.3(IFT172):c.1227C>T (p.Cys409=) rs973370518
NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
NM_015662.3(IFT172):c.1254C>G (p.Thr418=) rs1468553045
NM_015662.3(IFT172):c.126G>A (p.Leu42=) rs2148559862
NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp) rs145145347
NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
NM_015662.3(IFT172):c.1315dup (p.His439fs)
NM_015662.3(IFT172):c.1325+14A>T
NM_015662.3(IFT172):c.1325+6C>T rs753078264
NM_015662.3(IFT172):c.1326-10C>A
NM_015662.3(IFT172):c.1326-1G>A
NM_015662.3(IFT172):c.1326-8T>C
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
NM_015662.3(IFT172):c.1380T>G (p.Ala460=) rs1465089677
NM_015662.3(IFT172):c.1383T>C (p.Tyr461=) rs201572769
NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
NM_015662.3(IFT172):c.1393A>G (p.Ile465Val) rs1667974652
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1411+7A>G
NM_015662.3(IFT172):c.1411+8A>C
NM_015662.3(IFT172):c.1412-14C>T
NM_015662.3(IFT172):c.1412-16C>T
NM_015662.3(IFT172):c.1412-1G>C
NM_015662.3(IFT172):c.1412-20C>G rs1487705973
NM_015662.3(IFT172):c.1412-2A>G
NM_015662.3(IFT172):c.1413G>A (p.Val471=) rs2148531759
NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1443C>G (p.Thr481=) rs780600337
NM_015662.3(IFT172):c.1444G>C (p.Val482Leu) rs771104054
NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn) rs1176061294
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
NM_015662.3(IFT172):c.1460G>A (p.Arg487His) rs368967337
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
NM_015662.3(IFT172):c.1488T>C (p.Thr496=) rs1369233091
NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) rs1668686361
NM_015662.3(IFT172):c.1503C>T (p.Leu501=) rs1667628081
NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
NM_015662.3(IFT172):c.1524+10G>A
NM_015662.3(IFT172):c.1524+11C>A rs2148531337
NM_015662.3(IFT172):c.1524+19G>T rs1667624184
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1525-17G>A rs187471043
NM_015662.3(IFT172):c.1525-20C>G
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1525-6C>T
NM_015662.3(IFT172):c.153T>G (p.Asp51Glu) rs537341371
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)
NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe) rs1437298206
NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp) rs1667528581
NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu) rs2148528504
NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe) rs1667527908
NM_015662.3(IFT172):c.1590G>A (p.Gln530=) rs770918577
NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
NM_015662.3(IFT172):c.1615G>A (p.Val539Ile) rs1667524518
NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs) rs587777083
NM_015662.3(IFT172):c.1674C>G (p.Val558=) rs1455569315
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
NM_015662.3(IFT172):c.1692+12A>T
NM_015662.3(IFT172):c.1692+18G>A
NM_015662.3(IFT172):c.1692+6T>A rs771744568
NM_015662.3(IFT172):c.1692+9G>A
NM_015662.3(IFT172):c.1693-1G>A
NM_015662.3(IFT172):c.1693-7T>A
NM_015662.3(IFT172):c.1693-8T>A rs1192375297
NM_015662.3(IFT172):c.1693-9C>A
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1710G>A (p.Leu570=) rs2148516446
NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
NM_015662.3(IFT172):c.1731C>T (p.Thr577=) rs369849820
NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
NM_015662.3(IFT172):c.1743G>A (p.Val581=)
NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
NM_015662.3(IFT172):c.177C>T (p.Asp59=)
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp) rs147885790
NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
NM_015662.3(IFT172):c.1807A>G (p.Ile603Val) rs1442344603
NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser) rs745938799
NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
NM_015662.3(IFT172):c.1829+3G>A rs751267637
NM_015662.3(IFT172):c.1829+7G>A
NM_015662.3(IFT172):c.183+13T>C
NM_015662.3(IFT172):c.1830-13C>T rs1667020853
NM_015662.3(IFT172):c.1830-6T>G rs758128239
NM_015662.3(IFT172):c.1830-8C>T
NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
NM_015662.3(IFT172):c.184-14_184-11del
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.184-8del
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala) rs1403737174
NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys) rs2148559384
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
NM_015662.3(IFT172):c.189_192del (p.Lys65fs)
NM_015662.3(IFT172):c.18G>A (p.Leu6=)
NM_015662.3(IFT172):c.1905A>G (p.Ala635=) rs2148515325
NM_015662.3(IFT172):c.1925A>C (p.His642Pro) rs2148515313
NM_015662.3(IFT172):c.1926C>T (p.His642=)
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val) rs371919234
NM_015662.3(IFT172):c.1933G>C (p.Glu645Gln)
NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
NM_015662.3(IFT172):c.1937+5G>A
NM_015662.3(IFT172):c.1937+6G>A rs1558388446
NM_015662.3(IFT172):c.1938-15G>A
NM_015662.3(IFT172):c.1938-17T>C
NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys) rs2148559359
NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)
NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr) rs755632444
NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu) rs1666808431
NM_015662.3(IFT172):c.2023-20A>G
NM_015662.3(IFT172):c.2023-5C>G
NM_015662.3(IFT172):c.2023-5dup
NM_015662.3(IFT172):c.2023-9_2023-8insAA
NM_015662.3(IFT172):c.202A>G (p.Met68Val) rs1007588478
NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
NM_015662.3(IFT172):c.2049G>C (p.Gln683His) rs780709991
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln) rs561676433
NM_015662.3(IFT172):c.205G>A (p.Val69Met) rs756299134
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu) rs145601549
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
NM_015662.3(IFT172):c.2078del (p.Lys693fs) rs1444591972
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys) rs1666775725
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
NM_015662.3(IFT172):c.2115+12A>G
NM_015662.3(IFT172):c.2116-11G>C
NM_015662.3(IFT172):c.2116-11G>T
NM_015662.3(IFT172):c.2116-2A>G
NM_015662.3(IFT172):c.2116-5C>G
NM_015662.3(IFT172):c.2116-5C>T rs754154643
NM_015662.3(IFT172):c.2116-7C>T
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter) rs2148507566
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro) rs202089120
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
NM_015662.3(IFT172):c.2178T>C (p.Ala726=) rs2148507415
NM_015662.3(IFT172):c.2190C>T (p.Ala730=) rs781352681
NM_015662.3(IFT172):c.2193+13T>C rs947674391
NM_015662.3(IFT172):c.2193+14C>A rs1666690784
NM_015662.3(IFT172):c.2193+16T>C
NM_015662.3(IFT172):c.2193+16_2193+18del rs1215056367
NM_015662.3(IFT172):c.2193+18T>C
NM_015662.3(IFT172):c.2193+5C>T rs2148507369
NM_015662.3(IFT172):c.2193+6T>G rs2148507360
NM_015662.3(IFT172):c.2194-10G>T rs1666669350
NM_015662.3(IFT172):c.2194-15T>G rs1666669871
NM_015662.3(IFT172):c.2194-6G>T
NM_015662.3(IFT172):c.2194-8A>G
NM_015662.3(IFT172):c.2194-9C>A
NM_015662.3(IFT172):c.2197C>A (p.His733Asn) rs774487712
NM_015662.3(IFT172):c.2199C>T (p.His733=) rs146482086
NM_015662.3(IFT172):c.219T>A (p.Ala73=) rs2148559300
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter)
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro) rs765641043
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2277A>G (p.Leu759=) rs2148506541
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
NM_015662.3(IFT172):c.2299C>T (p.Leu767=) rs1666656398
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup) rs1239784714
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met) rs747166388
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val) rs2148506384
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly) rs202024173
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
NM_015662.3(IFT172):c.2403C>T (p.His801=)
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile) rs933347695
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val) rs933347695
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser) rs2148506110
NM_015662.3(IFT172):c.2442+14C>T
NM_015662.3(IFT172):c.2442+5G>A rs1666641444
NM_015662.3(IFT172):c.2442+9G>C rs771351250
NM_015662.3(IFT172):c.2443-14G>T rs1261651716
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val) rs1666622337
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
NM_015662.3(IFT172):c.2487G>A (p.Leu829=) rs2148505508
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp) rs2148505488
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=) rs377514145
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser) rs1474467674
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
NM_015662.3(IFT172):c.2521+15T>A
NM_015662.3(IFT172):c.2521+1G>A
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
NM_015662.3(IFT172):c.274G>C (p.Val92Leu) rs2148559132
NM_015662.3(IFT172):c.275T>C (p.Val92Ala) rs1306568500
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr) rs1668654872
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala) rs1666396574
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
NM_015662.3(IFT172):c.2877+10G>A rs2148500039
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_015662.3(IFT172):c.2877+8T>C
NM_015662.3(IFT172):c.2878-19T>C
NM_015662.3(IFT172):c.2878-4A>G
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
NM_015662.3(IFT172):c.2884A>G (p.Met962Val) rs541501287
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
NM_015662.3(IFT172):c.2905G>C (p.Asp969His) rs1666329493
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu) rs2148498608
NM_015662.3(IFT172):c.291A>G (p.Glu97=) rs189236939
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
NM_015662.3(IFT172):c.297-15del
NM_015662.3(IFT172):c.2976-16G>A
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys) rs2148557687
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His) rs1666300541
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr) rs372047259
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly) rs1666295604
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg) rs2148497488
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=) rs1572750803
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
NM_015662.3(IFT172):c.3111+1G>T
NM_015662.3(IFT172):c.3111+20C>T
NM_015662.3(IFT172):c.3111+7C>T
NM_015662.3(IFT172):c.3112-15C>T
NM_015662.3(IFT172):c.3112-19C>G rs1666279699
NM_015662.3(IFT172):c.3112-20C>T
NM_015662.3(IFT172):c.3112-5T>A rs786205858
NM_015662.3(IFT172):c.3112-7C>T
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
NM_015662.3(IFT172):c.312C>T (p.Val104=)
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del) rs2148496996
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln) rs1666273532
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln) rs763117647
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu) rs1666272023
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala) rs550525758
NM_015662.3(IFT172):c.3196C>G (p.Arg1066Gly) rs148997142
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys) rs1666267648
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg) rs1666267219
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=) rs1666265665
NM_015662.3(IFT172):c.3228+20C>G
NM_015662.3(IFT172):c.3229-9G>T
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu) rs542128061
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
NM_015662.3(IFT172):c.3312T>A (p.Val1104=) rs2148494491
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del) rs2148494469
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
NM_015662.3(IFT172):c.336+17T>G rs980703626
NM_015662.3(IFT172):c.336+2T>G
NM_015662.3(IFT172):c.3371+12A>G
NM_015662.3(IFT172):c.3371+20C>T
NM_015662.3(IFT172):c.3372-20A>G
NM_015662.3(IFT172):c.3372-9C>T rs755327956
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln) rs1158499870
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln) rs148624326
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr) rs2148556996
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=) rs2148490003
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=) rs2148489948
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val) rs769882549
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3465+11G>T
NM_015662.3(IFT172):c.3465+8T>C
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3466-11_3466-8del rs773373497
NM_015662.3(IFT172):c.3466-13TC[2] rs773373497
NM_015662.3(IFT172):c.3466-17C>T rs2148489457
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg) rs1665983486
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu) rs765202929
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
NM_015662.3(IFT172):c.3952-14G>A rs763108930
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.3952-6A>C rs908057940
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His) rs768705269
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser) rs768990688
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
NM_015662.3(IFT172):c.402+2T>C
NM_015662.3(IFT172):c.402+8A>G
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr) rs762984875
NM_015662.3(IFT172):c.4050+2dup rs2148478879
NM_015662.3(IFT172):c.4050+9del
NM_015662.3(IFT172):c.4051-13T>A
NM_015662.3(IFT172):c.4051-13del rs756768673
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4051-8C>T rs1183759904
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
NM_015662.3(IFT172):c.414A>C (p.Ala138=) rs1668544883
NM_015662.3(IFT172):c.4160+19_4160+21del rs760484345
NM_015662.3(IFT172):c.4161-10A>G
NM_015662.3(IFT172):c.4161-11C>T
NM_015662.3(IFT172):c.4161-18C>G rs1558357557
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=) rs1572722884
NM_015662.3(IFT172):c.4176G>C (p.Val1392=) rs1243938107
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln) rs148360112
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs) rs2148477695
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg) rs1665458761
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
NM_015662.3(IFT172):c.4224+8T>C
NM_015662.3(IFT172):c.4225-17G>A
NM_015662.3(IFT172):c.4225-17G>C
NM_015662.3(IFT172):c.4225-19C>G
NM_015662.3(IFT172):c.4225-19_4225-18del
NM_015662.3(IFT172):c.4225-9T>C
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=) rs748345321
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg) rs1665443434
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn) rs1665443007
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro) rs1465201525
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg) rs377646246
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4311+4C>T
NM_015662.3(IFT172):c.4311+6G>T rs1210994251
NM_015662.3(IFT172):c.4312-4dup
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp) rs1219587063
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
NM_015662.3(IFT172):c.4428+15C>T
NM_015662.3(IFT172):c.4429-178_4436del
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn) rs371807689
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr) rs149435148
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe) rs149435148
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=) rs774451726
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg) rs1665288911
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=) rs1244568496
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
NM_015662.3(IFT172):c.4540-15G>A
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
NM_015662.3(IFT172):c.4617T>C (p.His1539=) rs1266021624
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.463G>C (p.Val155Leu) rs149969430
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile) rs779801761
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His) rs530107456
NM_015662.3(IFT172):c.4659+16T>A rs143060452
NM_015662.3(IFT172):c.466G>T (p.Val156Leu) rs1401986067
NM_015662.3(IFT172):c.482+10G>C
NM_015662.3(IFT172):c.482+16T>G
NM_015662.3(IFT172):c.482+1G>A
NM_015662.3(IFT172):c.482+9A>G
NM_015662.3(IFT172):c.483-19C>T
NM_015662.3(IFT172):c.483-4T>C rs1668525396
NM_015662.3(IFT172):c.483-7T>C
NM_015662.3(IFT172):c.483-9C>T
NM_015662.3(IFT172):c.495A>G (p.Lys165=) rs1202101296
NM_015662.3(IFT172):c.509G>T (p.Gly170Val) rs770113267
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
NM_015662.3(IFT172):c.555C>G (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.555C>T (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.570+14A>C
NM_015662.3(IFT172):c.570+19G>C rs761066634
NM_015662.3(IFT172):c.570+3A>G
NM_015662.3(IFT172):c.571-12C>T rs2148550539
NM_015662.3(IFT172):c.571-17C>T
NM_015662.3(IFT172):c.571-18C>T
NM_015662.3(IFT172):c.571-3T>A
NM_015662.3(IFT172):c.571-3T>C
NM_015662.3(IFT172):c.571-7G>C
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser) rs267599319
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp) rs909930223
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
NM_015662.3(IFT172):c.663C>G (p.Ala221=) rs2148550253
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
NM_015662.3(IFT172):c.691del (p.Thr231fs)
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly) rs146290725
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
NM_015662.3(IFT172):c.738T>C (p.Ala246=) rs1365791183
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala) rs1013134780
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
NM_015662.3(IFT172):c.763G>A (p.Val255Ile) rs2148549986
NM_015662.3(IFT172):c.770T>C (p.Leu257Pro) rs786205857
NM_015662.3(IFT172):c.785+16A>G
NM_015662.3(IFT172):c.786-18C>G rs773491435
NM_015662.3(IFT172):c.786-18C>T
NM_015662.3(IFT172):c.786-2A>G
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.786-6T>G
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
NM_015662.3(IFT172):c.834A>G (p.Ala278=) rs1221821042
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg) rs1279126964
NM_015662.3(IFT172):c.843G>A (p.Lys281=) rs1668252791
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser) rs975683128
NM_015662.3(IFT172):c.875del (p.Leu292fs)
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
NM_015662.3(IFT172):c.894C>T (p.Gly298=) rs2148547913
NM_015662.3(IFT172):c.909+11A>G
NM_015662.3(IFT172):c.909+17C>A rs376213191
NM_015662.3(IFT172):c.909+17C>G
NM_015662.3(IFT172):c.909+3G>A rs2148547848
NM_015662.3(IFT172):c.910-20G>A
NM_015662.3(IFT172):c.910-2A>G rs2148546998
NM_015662.3(IFT172):c.910-8C>T
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp) rs1553335843
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu) rs749612277
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys) rs370874046
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
NM_015662.3(IFT172):c.97G>C (p.Val33Leu) rs2148559931
NM_015662.3(IFT172):c.984G>A (p.Leu328=)

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