ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Natera, Inc.

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1560
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) rs150710001 0.00050
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00044
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266 0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile) rs181884470 0.00039
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00038
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750 0.00029
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=) rs138048667 0.00029
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206 0.00024
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) rs148017278 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met) rs141079076 0.00024
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg) rs145533843 0.00022
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) rs749162833 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00021
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024649.5(BBS1):c.432+5A>G rs373923317 0.00021
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys) rs200970148 0.00020
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu) rs150095347 0.00019
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_024649.5(BBS1):c.-3A>G rs549210746 0.00019
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val) rs147911274 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr) rs138460682 0.00017
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_001369.3(DNAH5):c.11570+5G>A rs771916783 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
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_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys) rs374860980 0.00015
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=) rs144879072 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys) rs145962029 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00014
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) rs138489039 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) rs199817659 0.00014
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) rs199667661 0.00013
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu) rs199698421 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly) rs199910966 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00012
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His) rs140975593 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012144.4(DNAI1):c.48+3A>G rs771238788 0.00012
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=) rs148808566 0.00012
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile) rs373406041 0.00011
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser) rs111313832 0.00011
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn) rs149834171 0.00011
NM_001369.3(DNAH5):c.6444+4T>C rs377638408 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) rs138383101 0.00011
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=) rs770503381 0.00011
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile) rs200358267 0.00011
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) rs201473584 0.00010
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro) rs372910832 0.00010
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=) rs774172381 0.00010
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln) rs182986650 0.00010
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp) rs371226659 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys) rs190450522 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys) rs141052175 0.00009
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met) rs140690090 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) rs147108941 0.00008
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His) rs150739124 0.00008
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr) rs536502106 0.00008
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu) rs139821753 0.00008
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) rs547718820 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967 0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=) rs369094478 0.00007
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val) rs763824667 0.00007
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile) rs368448770 0.00007
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly) rs374248199 0.00007
NM_001369.3(DNAH5):c.477C>T (p.Gly159=) rs897766386 0.00007
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) rs201521142 0.00007
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) rs138838869 0.00006
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=) rs990691780 0.00006
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00006
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053 0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His) rs150601733 0.00006
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys) rs141651575 0.00006
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala) rs753696648 0.00006
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu) rs139857637 0.00006
NM_001369.3(DNAH5):c.660+9G>A rs762915801 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00006
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00006
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His) rs369931315 0.00006
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316 0.00006
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr) rs894421376 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) rs147909279 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile) rs191840487 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr) rs199786347 0.00006
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala) rs61742648 0.00006
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn) rs370655253 0.00006
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val) rs755820734 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00006
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) rs148885547 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) rs376453450 0.00005
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.4867G>A (p.Glu1623Lys) rs147339019 0.00005
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys) rs771222700 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu) rs755122846 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.883-7C>A rs372349467 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met) rs374715330 0.00005
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) rs200012281 0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941 0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His) rs185855852 0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743 0.00004
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys) rs143673459 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln) rs372291214 0.00004
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=) rs748438142 0.00004
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu) rs749078502 0.00004
NM_001369.3(DNAH5):c.5198C>T (p.Ser1733Leu) rs146087064 0.00004
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala) rs138222058 0.00004
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00004
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln) rs371695477 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe) rs368476008 0.00004
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe) rs375063617 0.00004
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566 0.00004
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn) rs1038976235 0.00004
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=) rs375561333 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro) rs532551687 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met) rs139953639 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_012144.4(DNAI1):c.371G>A (p.Arg124His) rs759257177 0.00004
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn) rs999905460 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00004
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala) rs146565951 0.00004
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly) rs776600721 0.00004
NM_015272.5(RPGRIP1L):c.1829A>G (p.His610Arg) rs386833997 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys) rs201312119 0.00004
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp) rs369055168 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) rs368225621 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) rs778339359 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00003
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys) rs565819640 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu) rs185104576 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys) rs771613197 0.00003
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845 0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) rs769275003 0.00003
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798 0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) rs116128702 0.00003
NM_001369.3(DNAH5):c.4355+5G>A rs774366812 0.00003
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp) rs747326567 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=) rs752656841 0.00003
NM_001369.3(DNAH5):c.8821-7A>G rs776228125 0.00003
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069 0.00003
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp) rs752623561 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg) rs375540445 0.00003
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His) rs750598025 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn) rs773881728 0.00003
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val) rs1085307684 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile) rs565923150 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe) rs758403877 0.00003
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His) rs773558676 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His) rs374157187 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys) rs199975230 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp) rs770098954 0.00003
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val) rs767112083 0.00003
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val) rs780310164 0.00003
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys) rs771457754 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg) rs139246920 0.00003
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His) rs776104875 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) rs766392300 0.00003
NM_017777.4(MKS1):c.1534G>A (p.Val512Met) rs370130538 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) rs189255737 0.00003
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn) rs750025608 0.00003
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala) rs772185024 0.00003
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp) rs1162719665 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly) rs753284790 0.00003
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) rs761171314 0.00003
NM_023036.6(DNAI2):c.864+4C>T rs773061334 0.00003
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn) rs1215107095 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe) rs1165709485 0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11312C>T (p.Thr3771Ile) rs545183484 0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 0.00002
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu) rs149892711 0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779 0.00002
NM_001369.3(DNAH5):c.12157T>C (p.Ser4053Pro) rs140496584 0.00002
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe) rs144234655 0.00002
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) rs150357258 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr) rs767228474 0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys) rs777295839 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg) rs767525835 0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) rs781059966 0.00002
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His) rs370272258 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103 0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) rs745381842 0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln) rs775506164 0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) rs747116308 0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met) rs190749755 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg) rs776745317 0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=) rs767344710 0.00002
NM_001369.3(DNAH5):c.6416A>G (p.Lys2139Arg) rs151336435 0.00002
NM_001369.3(DNAH5):c.660+10A>G rs750383077 0.00002
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln) rs558294959 0.00002
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile) rs1416012949 0.00002
NM_001369.3(DNAH5):c.7371G>C (p.Gln2457His) rs1561324970 0.00002
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys) rs1469012975 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile) rs548585661 0.00002
NM_001369.3(DNAH5):c.8647+6C>T rs200250503 0.00002
NM_001369.3(DNAH5):c.8897C>T (p.Thr2966Met) rs202021335 0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719 0.00002
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=) rs765029802 0.00002
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln) rs752552477 0.00002
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=) rs543265562 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His) rs751862434 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala) rs201647675 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser) rs756201461 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys) rs757657988 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) rs547914710 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser) rs769100528 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg) rs777406837 0.00002
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys) rs755853256 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr) rs377035693 0.00002
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro) rs752598081 0.00002
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser) rs565152814 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=) rs192512050 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly) rs200726671 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser) rs749282106 0.00002
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) rs761944624 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) rs758424317 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys) rs112650114 0.00002
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln) rs768312326 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.329C>A (p.Pro110His) rs750288768 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.518+5G>A rs1428618323 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00002
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr) rs751500950 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys) rs751996726 0.00001
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser) rs1163468590 0.00001
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val) rs750831635 0.00001
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys) rs1554027892 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys) rs761555252 0.00001
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala) rs1305527957 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys) rs1469239990 0.00001
NM_001369.3(DNAH5):c.12033+4A>G rs746256175 0.00001
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln) rs775060022 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp) rs768164911 0.00001
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met) rs529288295 0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) rs752895938 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr) rs377316131 0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg) rs916403814 0.00001
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr) rs746819760 0.00001
NM_001369.3(DNAH5):c.1678G>A (p.Ala560Thr) rs1395945103 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg) rs564653952 0.00001
NM_001369.3(DNAH5):c.2259+8A>G rs202137813 0.00001
NM_001369.3(DNAH5):c.2417C>T (p.Thr806Ile) rs766649400 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala) rs756780275 0.00001
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg) rs367835771 0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) rs779020258 0.00001
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu) rs1268555395 0.00001
NM_001369.3(DNAH5):c.4613C>T (p.Ala1538Val) rs201165908 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg) rs1242688686 0.00001
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg) rs1385680717 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val) rs1354561021 0.00001
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=) rs142806046 0.00001
NM_001369.3(DNAH5):c.5476C>G (p.Pro1826Ala) rs928564123 0.00001
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp) rs760640325 0.00001
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val) rs1311080684 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val) rs1259929811 0.00001
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val) rs1256145306 0.00001
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser) rs945907926 0.00001
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val) rs1214362304 0.00001
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly) rs776748041 0.00001
NM_001369.3(DNAH5):c.5807C>T (p.Thr1936Ile) rs779609286 0.00001
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His) rs906638785 0.00001
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile) rs1060501465 0.00001
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met) rs148279547 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=) rs769544175 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln) rs1317585354 0.00001
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln) rs1349321210 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val) rs776056472 0.00001
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu) rs757970855 0.00001
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=) rs562255121 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn) rs550329660 0.00001
NM_001369.3(DNAH5):c.7445G>A (p.Arg2482Gln) rs764212128 0.00001
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val) rs768364281 0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138 0.00001
NM_001369.3(DNAH5):c.7583C>T (p.Ala2528Val) rs1400861231 0.00001
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg) rs377481206 0.00001
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln) rs755210201 0.00001
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser) rs1167219863 0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu) rs1318152994 0.00001
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys) rs758324905 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.9229C>T (p.Arg3077Trp) rs1426289211 0.00001
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051 0.00001
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu) rs951528702 0.00001
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp) rs753913853 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) rs199989044 0.00001
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp) rs779618627 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys) rs923816827 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro) rs751883638 0.00001
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys) rs1259661145 0.00001
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn) rs1448665150 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=) rs768478218 0.00001
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4476G>T (p.Glu1492Asp) rs745623990 0.00001
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro) rs745859143 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys) rs776002916 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His) rs1402153419 0.00001
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile) rs1163075641 0.00001
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120 0.00001
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp) rs1671948778 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg) rs574696548 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser) rs752016657 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro) rs768229118 0.00001
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala) rs772620985 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser) rs1273490920 0.00001
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg) rs763422515 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 0.00001
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu) rs769405720 0.00001
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe) rs761272792 0.00001
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln) rs780066739 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile) rs764937531 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys) rs763730338 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro) rs1553412796 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp) rs147893084 0.00001
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln) rs372361587 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys) rs144611423 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu) rs1236356655 0.00001
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp) rs749119217 0.00001
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr) rs747538328 0.00001
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser) rs1824742637 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln) rs761513762 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys) rs1296403401 0.00001
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp) rs1430832205 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val) rs781046784 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg) rs548348340 0.00001
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp) rs537925312 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu) rs750811808 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys) rs1381232476 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp) rs763167296 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr) rs763182141 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=) rs747445819 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys) rs200531735 0.00001
NM_015272.5(RPGRIP1L):c.2732A>G (p.His911Arg) rs1391430738 0.00001
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596 0.00001
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser) rs1187280209 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu) rs1446510817 0.00001
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn) rs746750855 0.00001
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val) rs778319575 0.00001
NM_015272.5(RPGRIP1L):c.3701+4T>C rs767564258 0.00001
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr) rs749664648 0.00001
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=) rs780364836 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His) rs927281262 0.00001
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=) rs752951179 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val) rs930198445 0.00001
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr) rs766117001 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile) rs759465861 0.00001
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu) rs1293609717 0.00001
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) rs769389013 0.00001
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met) rs200350173 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1424G>A (p.Arg475His) rs200026560 0.00001
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) rs373843986 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp) rs748406509 0.00001
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser) rs915370426 0.00001
NM_017777.4(MKS1):c.200G>A (p.Arg67His) rs780293222 0.00001
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln) rs765026950 0.00001
NM_017777.4(MKS1):c.586G>A (p.Val196Ile) rs140677541 0.00001
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) rs747659750 0.00001
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) rs754689401 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.81-3C>A rs1204016081 0.00001
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln) rs747504986 0.00001
NM_017777.4(MKS1):c.842G>C (p.Arg281Pro) rs794727927 0.00001
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg) rs1350256761 0.00001
NM_017777.4(MKS1):c.896T>C (p.Val299Ala) rs765793774 0.00001
NM_023036.6(DNAI2):c.1347+6G>A rs769832640 0.00001
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg) rs765028301 0.00001
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp) rs748717910 0.00001
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr) rs778391861 0.00001
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln) rs200668134 0.00001
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys) rs1200979339 0.00001
NM_023036.6(DNAI2):c.467+5C>T rs529401265 0.00001
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala) rs761883293 0.00001
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) rs763193003 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 0.00001
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) rs1479663514 0.00001
NM_024649.5(BBS1):c.280A>G (p.Met94Val) rs1376711744 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) rs1207942097 0.00001
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) rs142769864 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.646G>A (p.Val216Met) rs764165386 0.00001
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) rs544315396 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024649.5(BBS1):c.830+3A>G rs747229201 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr) rs748009027 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser) rs1390111024
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly) rs1751407075
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg) rs1057517890
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11357G>C (p.Ser3786Thr) rs777928542
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val) rs1044439678
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln) rs761043906
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr) rs1746210228
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.11803T>C (p.Ser3935Pro) rs145685491
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp) rs1201132518
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val) rs1580867247
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro) rs757737381
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser) rs148696723
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys) rs368413636
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met) rs1561084758
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu) rs1060501467
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13513G>T (p.Gly4505Cys) rs1742005673
NM_001369.3(DNAH5):c.13535T>C (p.Val4512Ala) rs1742002283
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu) rs1397044941
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met) rs189145014
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.1913A>G (p.Gln638Arg) rs1774599890
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn) rs1226480889
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser) rs760986984
NM_001369.3(DNAH5):c.259G>A (p.Val87Met) rs1778067241
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr) rs540038644
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del) rs762827509
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.356A>G (p.Asn119Ser) rs1777508838
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val) rs766505155
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg) rs1561476005
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln) rs781418120
NM_001369.3(DNAH5):c.4042G>T (p.Asp1348Tyr) rs368748560
NM_001369.3(DNAH5):c.438+5G>C rs776343117
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr) rs916516633
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val) rs1580641242
NM_001369.3(DNAH5):c.4916T>C (p.Phe1639Ser) rs1768079158
NM_001369.3(DNAH5):c.4950G>A (p.Lys1650=) rs1768073068
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5271+5G>A rs749394641
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp) rs754274080
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser) rs1375968864
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly) rs564040169
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp) rs1554058022
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg) rs1279883936
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile) rs753702337
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val) rs199629940
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala) rs1756491046
NM_001369.3(DNAH5):c.8820+6G>A rs201287534
NM_001369.3(DNAH5):c.882C>T (p.Leu294=) rs754754549
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.912G>A (p.Leu304=) rs1776989378
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln) rs113742238
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys) rs1243099431
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr) rs1554040804
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9871T>C (p.Leu3291=) rs1379421295
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn) rs1674959132
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg) rs774496480
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg) rs1057524132
NM_001378454.1(ALMS1):c.12275G>T (p.Arg4092Leu) rs748624161
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr) rs776104521
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg) rs1671857463
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu) rs756153603
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro) rs72811915
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile) rs772187394
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=) rs1671987512
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile) rs1671992482
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=) rs1672933172
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val) rs1220754616
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr) rs1245686264
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp) rs1672950651
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=) rs1672963670
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val) rs952528298
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr) rs1672978412
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro) rs111887810
NM_012144.4(DNAI1):c.228C>A (p.His76Gln) rs760014707
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu) rs1564031598
NM_012144.4(DNAI1):c.309C>T (p.His103=) rs1055150779
NM_012144.4(DNAI1):c.389-4C>G rs767845991
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr) rs1228318421
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe) rs1824648112
NM_015272.5(RPGRIP1L):c.-3G>C rs181731431
NM_015272.5(RPGRIP1L):c.1243+6T>C rs751839339
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=) rs1967498439
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del) rs760952407
NM_015272.5(RPGRIP1L):c.1566T>G (p.Ile522Met) rs1967359473
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys) rs1307023675
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.1892C>T (p.Thr631Ile) rs1567841081
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu) rs958116016
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met) rs748143379
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile) rs1016477709
NM_015272.5(RPGRIP1L):c.230+7A>G rs1970740052
NM_015272.5(RPGRIP1L):c.2305-8T>G rs953486434
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly) rs770098954
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=) rs1966500554
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr) rs756072167
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=) rs1038661631
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2852C>A (p.Ser951Tyr) rs1966204203
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr) rs772351648
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del) rs1964556741
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg) rs376935464
NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys) rs1963628196
NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser) rs1963622750
NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala) rs1970427633
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn) rs2151325702
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe) rs1969042766
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr) rs2151246140
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) rs772205041
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) rs773157492
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) rs144764478
NM_017777.4(MKS1):c.1232G>A (p.Arg411His) rs200679238
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly) rs181513926
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly) rs1328968692
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser) rs1968503638
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly) rs1968502243
NM_017777.4(MKS1):c.1610G>A (p.Arg537His) rs771624307
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu) rs557678962
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.229G>A (p.Val77Met) rs1198645467
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) rs375223375
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_017777.4(MKS1):c.579C>G (p.Asn193Lys) rs1206983556
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu) rs1968968283
NM_017777.4(MKS1):c.847G>C (p.Val283Leu) rs976973396
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) rs199726930
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) rs567531807
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly) rs375896715
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys) rs1204464128
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg) rs1060502200
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met) rs564337753
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met) rs371989598
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) rs538543314
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg) rs1486049035
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr) rs200125805
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser) rs764225804
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val) rs1271406619
NM_023036.6(DNAI2):c.467+6G>A rs1486894999
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met) rs2052655463
NM_024649.5(BBS1):c.*13_*21dup rs750165500
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.198C>T (p.Pro66=) rs1856007679
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024685.4(BBS10):c.1530A>G (p.Thr510=) rs1951758841
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser) rs1560708457
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1109A>T (p.Glu370Val) rs778032532
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser) rs760174792
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1564-3C>T rs747435572
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu) rs771110251
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp) rs1399872123
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.46C>T (p.Leu16=) rs1722990488
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035

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