NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02877
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02846
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02531
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01663
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
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_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_001369.3(DNAH5):c.11570+124G>C
|
rs543104462
|
0.00057
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
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_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
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_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
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_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=)
|
rs370489767
|
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.6816G>A (p.Met2272Ile)
|
rs765233946
|
0.00013
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=)
|
rs201316401
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_001369.3(DNAH5):c.4053+13C>T
|
rs543363871
|
0.00011
|
NM_001378454.1(ALMS1):c.-16A>G
|
rs746944958
|
0.00011
|
NM_001378454.1(ALMS1):c.12114+4C>T
|
rs373191489
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=)
|
rs562434013
|
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_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_001378454.1(ALMS1):c.12298+14G>A
|
rs755931726
|
0.00010
|
NM_001378454.1(ALMS1):c.1433-3T>C
|
rs367710998
|
0.00010
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr)
|
rs773754661
|
0.00010
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile)
|
rs370726988
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)
|
rs368863709
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
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.6615A>T (p.Leu2205=)
|
rs375011895
|
0.00007
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.11872+7T>A
|
rs763235048
|
0.00006
|
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)
|
rs368146962
|
0.00006
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)
|
rs368659119
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
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.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.2343C>T (p.Gly781=)
|
rs762082443
|
0.00006
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=)
|
rs201095989
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
0.00005
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=)
|
rs376757358
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)
|
rs146015192
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11547+16T>C
|
rs373935106
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-17A>G
|
rs762591261
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-7C>A
|
rs548573570
|
0.00004
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=)
|
rs377661858
|
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.1432+15G>A
|
rs376610564
|
0.00004
|
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=)
|
rs368992526
|
0.00004
|
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=)
|
rs374151754
|
0.00004
|
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala)
|
rs376991574
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.450+11T>C
|
rs763724672
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=)
|
rs190319211
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)
|
rs190445250
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
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_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu)
|
rs369660958
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)
|
rs752280639
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_147127.5(EVC2):c.707T>C (p.Val236Ala)
|
rs764307512
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg)
|
rs187607395
|
0.00003
|
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=)
|
rs760299487
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr)
|
rs763907736
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)
|
rs28730862
|
0.00003
|
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser)
|
rs371269253
|
0.00003
|
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=)
|
rs374328093
|
0.00003
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
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.2196C>T (p.Asp732=)
|
rs754758293
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys)
|
rs373979607
|
0.00003
|
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=)
|
rs199769789
|
0.00003
|
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala)
|
rs1193275022
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)
|
rs746145270
|
0.00003
|
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=)
|
rs372692493
|
0.00003
|
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp)
|
rs764135516
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.7675-19G>A
|
rs1399037677
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
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.8577G>A (p.Ser2859=)
|
rs199850691
|
0.00003
|
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser)
|
rs370622410
|
0.00003
|
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=)
|
rs372451785
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
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_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=)
|
rs771511314
|
0.00002
|
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser)
|
rs770904502
|
0.00002
|
NM_001378454.1(ALMS1):c.10214-19G>A
|
rs763103896
|
0.00002
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
NM_001378454.1(ALMS1):c.10384+3A>G
|
rs752727300
|
0.00002
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
0.00002
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_001378454.1(ALMS1):c.11668+17A>G
|
rs201109126
|
0.00002
|
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=)
|
rs374909171
|
0.00002
|
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=)
|
rs750372739
|
0.00002
|
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)
|
rs377523400
|
0.00002
|
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg)
|
rs201959964
|
0.00002
|
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp)
|
rs368113488
|
0.00002
|
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)
|
rs200814417
|
0.00002
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
NM_001378454.1(ALMS1):c.1237+8C>A
|
rs771449454
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.1338+18G>A
|
rs369695595
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro)
|
rs373936479
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu)
|
rs376834704
|
0.00002
|
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)
|
rs373378385
|
0.00002
|
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys)
|
rs369228801
|
0.00002
|
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=)
|
rs376517753
|
0.00002
|
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=)
|
rs372764773
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=)
|
rs770845249
|
0.00002
|
NM_001378454.1(ALMS1):c.450+7C>A
|
rs775200355
|
0.00002
|
NM_001378454.1(ALMS1):c.451-20T>C
|
rs762592063
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=)
|
rs535259433
|
0.00002
|
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp)
|
rs777664567
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu)
|
rs994637726
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.764+19A>G
|
rs1035974697
|
0.00002
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
0.00002
|
NM_001378454.1(ALMS1):c.7674+9G>T
|
rs1046548369
|
0.00002
|
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)
|
rs548882067
|
0.00002
|
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)
|
rs568470985
|
0.00002
|
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=)
|
rs373374154
|
0.00002
|
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr)
|
rs374259576
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=)
|
rs368408369
|
0.00002
|
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile)
|
rs551840069
|
0.00002
|
NM_001378454.1(ALMS1):c.9907+7T>G
|
rs375870610
|
0.00002
|
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)
|
rs564706097
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu)
|
rs754487754
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu)
|
rs771211831
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)
|
rs750108569
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)
|
rs1287246452
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001378454.1(ALMS1):c.-19C>T
|
rs1553396078
|
0.00001
|
NM_001378454.1(ALMS1):c.-20G>A
|
rs935547269
|
0.00001
|
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)
|
rs746923506
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+10T>C
|
rs752454047
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
NM_001378454.1(ALMS1):c.10079-10G>A
|
rs778996015
|
0.00001
|
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr)
|
rs145678202
|
0.00001
|
NM_001378454.1(ALMS1):c.10213+11T>C
|
rs1553416883
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu)
|
rs1170663588
|
0.00001
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg)
|
rs1288339942
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln)
|
rs188864796
|
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.11440A>G (p.Asn3814Asp)
|
rs369256893
|
0.00001
|
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=)
|
rs373397289
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)
|
rs376255515
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+13A>G
|
rs753246208
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+4C>T
|
rs753353269
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-12C>T
|
rs774970704
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-14A>G
|
rs768036112
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>A
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser)
|
rs369008610
|
0.00001
|
NM_001378454.1(ALMS1):c.11873-11G>A
|
rs571456553
|
0.00001
|
NM_001378454.1(ALMS1):c.11873-6C>T
|
rs749542120
|
0.00001
|
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=)
|
rs368655814
|
0.00001
|
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)
|
rs185423930
|
0.00001
|
NM_001378454.1(ALMS1):c.12114+12T>C
|
rs377393930
|
0.00001
|
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys)
|
rs1270753573
|
0.00001
|
NM_001378454.1(ALMS1):c.12298+7C>T
|
rs1252100215
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
NM_001378454.1(ALMS1):c.12363-14G>A
|
rs377374398
|
0.00001
|
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp)
|
rs763519566
|
0.00001
|
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=)
|
rs374020124
|
0.00001
|
NM_001378454.1(ALMS1):c.12462+10T>C
|
rs748315200
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser)
|
rs267599450
|
0.00001
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+7A>G
|
rs1468328132
|
0.00001
|
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=)
|
rs372610345
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=)
|
rs377037998
|
0.00001
|
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=)
|
rs1327400351
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys)
|
rs771496254
|
0.00001
|
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly)
|
rs1446915143
|
0.00001
|
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys)
|
rs377000488
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln)
|
rs370978261
|
0.00001
|
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)
|
rs368270850
|
0.00001
|
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)
|
rs949198387
|
0.00001
|
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val)
|
rs200704524
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)
|
rs1045405319
|
0.00001
|
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile)
|
rs1240072348
|
0.00001
|
NM_001378454.1(ALMS1):c.324+10G>C
|
rs778690416
|
0.00001
|
NM_001378454.1(ALMS1):c.325-6T>C
|
rs760582213
|
0.00001
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=)
|
rs780391682
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser)
|
rs777259139
|
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.450+3A>G
|
rs1371008925
|
0.00001
|
NM_001378454.1(ALMS1):c.451-19T>C
|
rs768590349
|
0.00001
|
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro)
|
rs368273962
|
0.00001
|
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)
|
rs1414087888
|
0.00001
|
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=)
|
rs371708421
|
0.00001
|
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr)
|
rs371903967
|
0.00001
|
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg)
|
rs372540975
|
0.00001
|
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val)
|
rs760829019
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=)
|
rs374143515
|
0.00001
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=)
|
rs372017680
|
0.00001
|
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)
|
rs375830111
|
0.00001
|
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys)
|
rs372714431
|
0.00001
|
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile)
|
rs373489525
|
0.00001
|
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val)
|
rs545488125
|
0.00001
|
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg)
|
rs376161519
|
0.00001
|
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=)
|
rs373438786
|
0.00001
|
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu)
|
rs372116790
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr)
|
rs374673974
|
0.00001
|
NM_001378454.1(ALMS1):c.647-5T>C
|
rs913268523
|
0.00001
|
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=)
|
rs189124891
|
0.00001
|
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)
|
rs1200119538
|
0.00001
|
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg)
|
rs145953016
|
0.00001
|
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile)
|
rs371544118
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=)
|
rs370287018
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val)
|
rs368310126
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=)
|
rs1483677896
|
0.00001
|
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.7541-15A>G
|
rs1169514054
|
0.00001
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.764+14T>C
|
rs1553400457
|
0.00001
|
NM_001378454.1(ALMS1):c.764+4G>A
|
rs1167438151
|
0.00001
|
NM_001378454.1(ALMS1):c.765-16A>G
|
rs765256601
|
0.00001
|
NM_001378454.1(ALMS1):c.7675-2A>G
|
rs748477695
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val)
|
rs199831059
|
0.00001
|
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)
|
rs370740871
|
0.00001
|
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)
|
rs754078506
|
0.00001
|
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)
|
rs200859630
|
0.00001
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln)
|
rs185447739
|
0.00001
|
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys)
|
rs1248081824
|
0.00001
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln)
|
rs772197358
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)
|
rs376206840
|
0.00001
|
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His)
|
rs765685958
|
0.00001
|
NM_001378454.1(ALMS1):c.9782-13T>G
|
rs530508947
|
0.00001
|
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)
|
rs757139660
|
0.00001
|
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)
|
rs375515965
|
0.00001
|
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys)
|
rs200826787
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+14A>G
|
rs1402624178
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+17A>C
|
rs772675597
|
0.00001
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.198-1G>C
|
rs1555202740
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met)
|
rs774112668
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter)
|
rs1555520107
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.730_732del (p.Ala244del)
|
rs1171314440
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)
|
rs1159758018
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)
|
rs146538906
|
0.00001
|
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys)
|
rs761946397
|
0.00001
|
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_152618.3(BBS12):c.*803_*804insT
|
rs1332628916
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)
|
rs770746493
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)
|
rs755314355
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_153717.3(EVC):c.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138
|
0.00001
|
NM_153717.3(EVC):c.835_837del (p.Lys279del)
|
rs761463883
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)
|
rs1554972400
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.230-9dup
|
rs1554972934
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)
|
rs1554972406
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)
|
rs1554972964
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG
|
rs1554973024
|
|
NM_001173990.3(TMEM216):c.432-10delinsAA
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-10delinsAC
|
rs1554973021
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001378454.1(ALMS1):c.-12C>G
|
rs1553396082
|
|
NM_001378454.1(ALMS1):c.-1C>T
|
rs756956183
|
|
NM_001378454.1(ALMS1):c.-7C>T
|
rs1296403299
|
|
NM_001378454.1(ALMS1):c.-8dup
|
rs1553396085
|
|
NM_001378454.1(ALMS1):c.-9G>A
|
rs1553396083
|
|
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs)
|
rs1553416233
|
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
NM_001378454.1(ALMS1):c.10079-1G>C
|
rs1361885101
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn)
|
rs751123703
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp)
|
rs1045473444
|
|
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro)
|
rs145678202
|
|
NM_001378454.1(ALMS1):c.10213+17G>C
|
rs1553416885
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
NM_001378454.1(ALMS1):c.10213+3A>G
|
rs1553416881
|
|
NM_001378454.1(ALMS1):c.10214-11C>G
|
rs1365430683
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs)
|
rs1553417044
|
|
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg)
|
rs139425340
|
|
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser)
|
rs267599448
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
|
rs767799669
|
|
NM_001378454.1(ALMS1):c.10384+1G>A
|
rs766366221
|
|
NM_001378454.1(ALMS1):c.10384+2dup
|
rs1255846889
|
|
NM_001378454.1(ALMS1):c.10384+5T>C
|
rs758235228
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=)
|
rs1553400737
|
|
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup)
|
rs1553418413
|
|
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg)
|
rs1553418430
|
|
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs)
|
rs1220975714
|
|
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs)
|
rs1553418449
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer)
|
rs1553418457
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs)
|
rs1553418505
|
|
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)
|
rs755616266
|
|
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs)
|
rs1553418512
|
|
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)
|
rs1553418513
|
|
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=)
|
rs373682259
|
|
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)
|
rs1553396092
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr)
|
rs1553418562
|
|
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr)
|
rs878854995
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
NM_001378454.1(ALMS1):c.11547+12C>A
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+12C>T
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+1G>A
|
rs1553418638
|
|
NM_001378454.1(ALMS1):c.11547+5A>C
|
rs1181494101
|
|
NM_001378454.1(ALMS1):c.11547+7G>C
|
rs1553418641
|
|
NM_001378454.1(ALMS1):c.11548-19A>T
|
rs760271173
|
|
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs)
|
rs1553421488
|
|
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup)
|
rs1468861836
|
|
NM_001378454.1(ALMS1):c.11668+12A>G
|
rs1553421500
|
|
NM_001378454.1(ALMS1):c.11668+6T>G
|
rs1553421499
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
NM_001378454.1(ALMS1):c.11669-3C>T
|
rs767901840
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del)
|
rs1553421645
|
|
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=)
|
rs368160921
|
|
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=)
|
rs765376715
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11872+12A>G
|
rs193922691
|
|
NM_001378454.1(ALMS1):c.11872+2T>A
|
rs1553421657
|
|
NM_001378454.1(ALMS1):c.11872+9C>G
|
rs768886966
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
NM_001378454.1(ALMS1):c.11873-4G>A
|
rs1553421697
|
|
NM_001378454.1(ALMS1):c.11873-7C>T
|
rs1553421696
|
|
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs)
|
rs1553400778
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg)
|
rs372747251
|
|
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)
|
rs370981817
|
|
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)
|
rs1553421739
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del)
|
rs1245181381
|
|
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs)
|
rs1553421752
|
|
NM_001378454.1(ALMS1):c.12114+14G>T
|
rs1057524070
|
|
NM_001378454.1(ALMS1):c.12114+19A>G
|
rs760374917
|
|
NM_001378454.1(ALMS1):c.12114+19A>T
|
rs760374917
|
|
NM_001378454.1(ALMS1):c.12114+1G>T
|
rs376719320
|
|
NM_001378454.1(ALMS1):c.12114+3_12114+12del
|
rs1348254028
|
|
NM_001378454.1(ALMS1):c.12115-8T>C
|
rs78455676
|
|
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)
|
rs1553421877
|
|
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs)
|
rs1553421886
|
|
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His)
|
rs878854996
|
|
NM_001378454.1(ALMS1):c.12298+19C>T
|
rs1553421935
|
|
NM_001378454.1(ALMS1):c.12299-14C>T
|
rs1352077204
|
|
NM_001378454.1(ALMS1):c.12299-15T>C
|
rs1553422033
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
NM_001378454.1(ALMS1):c.12299-1G>A
|
rs1313101326
|
|
NM_001378454.1(ALMS1):c.12299-3T>C
|
rs1553422034
|
|
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs)
|
rs764503373
|
|
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs)
|
rs1553422035
|
|
NM_001378454.1(ALMS1):c.12362+16C>G
|
rs1553422061
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
NM_001378454.1(ALMS1):c.1237+14T>C
|
rs1482335275
|
|
NM_001378454.1(ALMS1):c.1237+2T>C
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.1237+9C>T
|
rs201471551
|
|
NM_001378454.1(ALMS1):c.1238-11C>G
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.1238-11C>T
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs)
|
rs1553422659
|
|
NM_001378454.1(ALMS1):c.12462+12C>T
|
rs1553422680
|
|
NM_001378454.1(ALMS1):c.12462+12_12462+18del
|
rs1374364094
|
|
NM_001378454.1(ALMS1):c.12462+19T>C
|
rs1309452497
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.12462+3C>T
|
rs1553422676
|
|
NM_001378454.1(ALMS1):c.12462+5G>A
|
rs1553422678
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
NM_001378454.1(ALMS1):c.12463-11_12463-7del
|
rs1553422758
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs)
|
rs1553400956
|
|
NM_001378454.1(ALMS1):c.1338+11A>G
|
rs1553400967
|
|
NM_001378454.1(ALMS1):c.1338+20T>A
|
rs1466354765
|
|
NM_001378454.1(ALMS1):c.1339-20C>T
|
rs1553401589
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-5A>T
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-6C>T
|
rs1553401597
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
NM_001378454.1(ALMS1):c.137_139del (p.Val46del)
|
rs1553396198
|
|
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3])
|
rs1286794312
|
|
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del)
|
rs1553401631
|
|
NM_001378454.1(ALMS1):c.1432+12A>G
|
rs1553401640
|
|
NM_001378454.1(ALMS1):c.1432+14G>A
|
rs1204922039
|
|
NM_001378454.1(ALMS1):c.1432+16A>G
|
rs1553401642
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.1433-14C>A
|
rs1553403232
|
|
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs)
|
rs1553403262
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs)
|
rs1553396238
|
|
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala)
|
rs28730850
|
|
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del)
|
rs1553396088
|
|
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet)
|
rs1553396244
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs)
|
rs1553403401
|
|
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro)
|
rs1248095655
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del)
|
rs1553403420
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs)
|
rs1457500348
|
|
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)
|
rs368947491
|
|
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro)
|
rs1181372708
|
|
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys)
|
rs374262388
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs)
|
rs1553403560
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala)
|
rs374139959
|
|
NM_001378454.1(ALMS1):c.284dup (p.His96fs)
|
rs1553396293
|
|
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=)
|
rs1238528749
|
|
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=)
|
rs751486678
|
|
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)
|
rs1553396296
|
|
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)
|
rs1553396091
|
|
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
|
rs1039388814
|
|
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs)
|
rs1553403598
|
|
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn)
|
rs748646844
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.324+12C>T
|
rs1553396311
|
|
NM_001378454.1(ALMS1):c.324+14G>A
|
rs1553396313
|
|
NM_001378454.1(ALMS1):c.324+16G>C
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+16G>T
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+18G>A
|
rs1553396316
|
|
NM_001378454.1(ALMS1):c.324+4A>G
|
rs1553396304
|
|
NM_001378454.1(ALMS1):c.324+7C>G
|
rs1230102179
|
|
NM_001378454.1(ALMS1):c.325-15_325-13del
|
rs1553398832
|
|
NM_001378454.1(ALMS1):c.325-1G>A
|
rs764337753
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs)
|
rs1553396098
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser)
|
rs1164554577
|
|
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs)
|
rs1553403685
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln)
|
rs1553398843
|
|
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)
|
rs760942576
|
|
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del)
|
rs954466797
|
|
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=)
|
rs1553403752
|
|
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=)
|
rs1553403755
|
|
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs)
|
rs1553403762
|
|
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del)
|
rs775132874
|
|
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser)
|
rs1553403796
|
|
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr)
|
rs1228297685
|
|
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile)
|
rs1553403843
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)
|
rs771362238
|
|
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs)
|
rs1553403864
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly)
|
rs778948871
|
|
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu)
|
rs1553396123
|
|
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs)
|
rs1553403882
|
|
NM_001378454.1(ALMS1):c.450+11T>G
|
rs763724672
|
|
NM_001378454.1(ALMS1):c.450+12G>A
|
rs1553398856
|
|
NM_001378454.1(ALMS1):c.450+19G>A
|
rs1553398858
|
|
NM_001378454.1(ALMS1):c.450+22_450+25del
|
rs764559198
|
|
NM_001378454.1(ALMS1):c.450+24_450+40del
|
rs1553398860
|
|
NM_001378454.1(ALMS1):c.451-12A>G
|
rs1274254541
|
|
NM_001378454.1(ALMS1):c.451-16T>C
|
rs1553399953
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln)
|
rs148568833
|
|
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)
|
rs779366889
|
|
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs)
|
rs1553403989
|
|
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=)
|
rs373864798
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs)
|
rs1553404028
|
|
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del)
|
rs1553404031
|
|
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=)
|
rs1553396127
|
|
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu)
|
rs1553396125
|
|
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs)
|
rs1553404066
|
|
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)
|
rs374046216
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys)
|
rs375354717
|
|
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)
|
rs939208094
|
|
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs)
|
rs1057517445
|
|
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)
|
rs1553404109
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)
|
rs374676136
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val)
|
rs140062566
|
|
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs)
|
rs1553404150
|
|
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly)
|
rs1464393698
|
|
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs)
|
rs1553404156
|
|
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del)
|
rs1060500042
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del)
|
rs1553399981
|
|
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly)
|
rs376120513
|
|
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln)
|
rs1553396137
|
|
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser)
|
rs369011755
|
|
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro)
|
rs1382952433
|
|
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=)
|
rs754288227
|
|
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys)
|
rs905301935
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.646+10G>A
|
rs1553399998
|
|
NM_001378454.1(ALMS1):c.646+4A>T
|
rs1270489328
|
|
NM_001378454.1(ALMS1):c.646+5T>C
|
rs1235104737
|
|
NM_001378454.1(ALMS1):c.646+8C>T
|
rs760012033
|
|
NM_001378454.1(ALMS1):c.647-19_647-18insT
|
rs1553400422
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal)
|
rs1553396144
|
|
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=)
|
rs1553404267
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs)
|
rs1553404277
|
|
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)
|
rs1553404283
|
|
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs)
|
rs1553404305
|
|
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu)
|
rs1553396142
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val)
|
rs142904692
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs)
|
rs1553404368
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs)
|
rs1553400437
|
|
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)
|
rs1006328829
|
|
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val)
|
rs771422712
|
|
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys)
|
rs373004988
|
|
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser)
|
rs148306148
|
|
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys)
|
rs1553396155
|
|
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs)
|
rs1553404457
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs)
|
rs1553404473
|
|
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs)
|
rs1217507627
|
|
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp)
|
rs1491479006
|
|
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys)
|
rs1574423810
|
|
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla)
|
rs1553396120
|
|
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn)
|
rs757932553
|
|
NM_001378454.1(ALMS1):c.7540+11A>G
|
rs1553404509
|
|
NM_001378454.1(ALMS1):c.7540+14T>G
|
rs533780922
|
|
NM_001378454.1(ALMS1):c.7540+20C>A
|
rs1410444926
|
|
NM_001378454.1(ALMS1):c.7541-17G>C
|
rs758134188
|
|
NM_001378454.1(ALMS1):c.7541-19G>A
|
rs1553404624
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
NM_001378454.1(ALMS1):c.7541-8C>A
|
rs1553404629
|
|
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup)
|
rs1553396161
|
|
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val)
|
rs200155429
|
|
NM_001378454.1(ALMS1):c.764+3A>G
|
rs772334395
|
|
NM_001378454.1(ALMS1):c.764+9A>T
|
rs551013858
|
|
NM_001378454.1(ALMS1):c.765-13TA[2]
|
rs1553400662
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=)
|
rs1553404658
|
|
NM_001378454.1(ALMS1):c.7674+10A>G
|
rs1553404676
|
|
NM_001378454.1(ALMS1):c.7674+3A>G
|
rs1553404673
|
|
NM_001378454.1(ALMS1):c.7674+5A>G
|
rs756532322
|
|
NM_001378454.1(ALMS1):c.7675-7C>T
|
rs1553409573
|
|
NM_001378454.1(ALMS1):c.7675-8T>A
|
rs1553409572
|
|
NM_001378454.1(ALMS1):c.769del (p.Ile257fs)
|
rs1553400675
|
|
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=)
|
rs1553409598
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln)
|
rs940478567
|
|
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr)
|
rs201426207
|
|
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)
|
rs1553409656
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del)
|
rs1553409676
|
|
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
|
|
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln)
|
rs1553409698
|
|
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del)
|
rs770459045
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del)
|
rs1553409711
|
|
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)
|
rs1553409715
|
|
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del)
|
rs1553409754
|
|
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del)
|
rs777935409
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del)
|
rs1553409775
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)
|
rs1553409778
|
|
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=)
|
rs371736476
|
|
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del)
|
rs1553409817
|
|
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)
|
rs973057702
|
|
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)
|
rs759799299
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup)
|
rs1455775922
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs)
|
rs1553400709
|
|
NM_001378454.1(ALMS1):c.9539+10A>G
|
rs1553409904
|
|
NM_001378454.1(ALMS1):c.9539+13G>C
|
rs369860432
|
|
NM_001378454.1(ALMS1):c.9539+1G>T
|
rs1553409901
|
|
NM_001378454.1(ALMS1):c.9539+20C>T
|
rs759559244
|
|
NM_001378454.1(ALMS1):c.9540-15C>A
|
rs780375594
|
|
NM_001378454.1(ALMS1):c.9540-16del
|
rs765235024
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del)
|
rs1553412739
|
|
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del)
|
rs762803723
|
|
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro)
|
rs766127195
|
|
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs)
|
rs1553412797
|
|
NM_001378454.1(ALMS1):c.9781+11G>A
|
rs970258030
|
|
NM_001378454.1(ALMS1):c.9781+19A>C
|
rs895296631
|
|
NM_001378454.1(ALMS1):c.9781+5G>C
|
rs1553412803
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_001378454.1(ALMS1):c.9782-18T>C
|
rs995894081
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
|
|
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs)
|
rs1553414071
|
|
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=)
|
rs187880759
|
|
NM_001378454.1(ALMS1):c.9907+17A>G
|
rs772675597
|
|
NM_001378454.1(ALMS1):c.9907+20C>A
|
rs74730457
|
|
NM_001378454.1(ALMS1):c.9907+5T>G
|
rs1553414096
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
NM_001378454.1(ALMS1):c.9908-6C>G
|
rs1553416191
|
|
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala)
|
rs1553416202
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)
|
rs727502978
|
|
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)
|
rs878854967
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)
|
rs1555597302
|
|
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)
|
rs1555597266
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.1614del (p.Met539fs)
|
rs1555596555
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
|
rs780100856
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)
|
rs1555048530
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)
|
rs1555050401
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)
|
rs1555050422
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)
|
rs1450045618
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.432+9_432+12del
|
rs1555046629
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)
|
rs1555048487
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)
|
rs1555202655
|
|
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)
|
rs1057516998
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1024del (p.Ile342fs)
|
rs765561672
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)
|
rs1555202642
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)
|
rs1057517206
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)
|
rs767108821
|
|
NM_024685.4(BBS10):c.1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1533del (p.Thr512fs)
|
rs773864735
|
|
NM_024685.4(BBS10):c.1538dup (p.Thr514fs)
|
rs1555202599
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)
|
rs756523417
|
|
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1952del (p.Lys651fs)
|
rs1555202562
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)
|
rs1555202553
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)
|
rs1555202546
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.214_215del (p.Val72fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)
|
rs1555202737
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)
|
rs1057516240
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)
|
rs1057516753
|
|
NM_024685.4(BBS10):c.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.534_535del (p.Phe178fs)
|
rs1555202698
|
|
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)
|
rs574032499
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)
|
rs1555202681
|
|
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)
|
rs1555202801
|
|
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)
|
rs1057516836
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_031885.3(BBS2):c.1528_1539del12
|
rs1555521575
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1081-1G>T
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.1797+1G>A
|
rs1555521489
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)
|
rs1555520220
|
|
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)
|
rs1555520212
|
|
NM_031885.5(BBS2):c.2060-1G>T
|
rs1555520142
|
|
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr)
|
rs1555520101
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.324_343del (p.Asn108fs)
|
rs1555523964
|
|
NM_031885.5(BBS2):c.365C>T (p.Ala122Val)
|
rs17856449
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.55del (p.Val19fs)
|
rs1555524593
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)
|
rs1555522252
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del)
|
rs1553846622
|
|
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)
|
rs1553840713
|
|
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn)
|
rs1553840668
|
|
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp)
|
rs1553840593
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del)
|
rs1553855096
|
|
NM_147127.5(EVC2):c.1471-1G>C
|
rs1553837446
|
|
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)
|
rs772411576
|
|
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169
|
|
NM_147127.5(EVC2):c.1887-1G>A
|
rs1490912913
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs)
|
rs1553855074
|
|
NM_147127.5(EVC2):c.2046+1G>C
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>T
|
rs762947212
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del)
|
rs1553833065
|
|
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del)
|
rs1553832710
|
|
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178
|
|
NM_147127.5(EVC2):c.2830-1G>A
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del)
|
rs775393091
|
|
NM_147127.5(EVC2):c.3057+1G>A
|
rs1307502841
|
|
NM_147127.5(EVC2):c.3058-2A>G
|
rs760066386
|
|
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del)
|
rs774915706
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del)
|
rs1553813318
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del)
|
rs1227016096
|
|
NM_147127.5(EVC2):c.3660-2A>G
|
rs1553811863
|
|
NM_147127.5(EVC2):c.3863del (p.Pro1288fs)
|
rs1553811729
|
|
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)
|
rs752839237
|
|
NM_147127.5(EVC2):c.450+1G>A
|
rs1447633595
|
|
NM_147127.5(EVC2):c.450+1del
|
rs1553852469
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del)
|
rs1553855115
|
|
NM_152618.3(BBS12):c.*484A>G
|
rs886059060
|
|
NM_152618.3(BBS12):c.*854C>A
|
rs886059061
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del)
|
rs1553941372
|
|
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr)
|
rs1553941373
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del)
|
rs1553941469
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1507G>A (p.Val503Met)
|
rs374865012
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)
|
rs1490785954
|
|
NM_152618.3(BBS12):c.1795del (p.Leu599fs)
|
rs1553941540
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.2074dup (p.Thr692fs)
|
rs1553941623
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)
|
rs1553941223
|
|
NM_152618.3(BBS12):c.29_31del (p.Lys10del)
|
rs1553941158
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
NM_152618.3(BBS12):c.343_345del (p.Val115del)
|
rs1553941232
|
|
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)
|
rs1553941255
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.568dup (p.Ser190fs)
|
rs1553941279
|
|
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)
|
rs1553941287
|
|
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr)
|
rs879118135
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084_1086del (p.Glu362del)
|
rs1553873980
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1252_1254del (p.Lys418del)
|
rs1553875708
|
|
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del)
|
rs1553875724
|
|
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])
|
rs1553857987
|
|
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)
|
rs1553875733
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1464+20T>C
|
rs886038740
|
|
NM_153717.3(EVC):c.1465-3_1472del
|
rs1300178432
|
|
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)
|
rs1553876813
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del)
|
rs764533114
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)
|
rs1553891170
|
|
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)
|
rs1553891205
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)
|
rs1553891884
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup)
|
rs1553893407
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2561+12_2561+23del
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC
|
rs1553895769
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2842dup (p.Val948fs)
|
rs1553896459
|
|
NM_153717.3(EVC):c.2893dup (p.Ser965fs)
|
rs1553896497
|
|
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)
|
rs1553896708
|
|
NM_153717.3(EVC):c.2920del (p.Ser974fs)
|
rs1370417156
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)
|
rs1553865272
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)
|
rs1553857864
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)
|
rs1553857901
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)
|
rs1278946084
|
|
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)
|
rs1232712590
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)
|
rs1553857904
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)
|
rs1229967881
|
|