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
|
|