NM_207361.6(FREM2):c.576G>A (p.Glu192=)
|
rs1868464
|
0.99992
|
NM_001366722.1(GRIP1):c.2464+15T>C
|
rs7970076
|
0.97982
|
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)
|
rs13277
|
0.87545
|
NM_000601.6(HGF):c.1272-4A>G
|
rs1800793
|
0.76662
|
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)
|
rs9548509
|
0.73365
|
NM_001366722.1(GRIP1):c.724+10G>A
|
rs12316942
|
0.67684
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_016938.5(EFEMP2):c.490+23G>C
|
rs630394
|
0.59356
|
NM_020661.4(AICDA):c.156+16G>A
|
rs2518144
|
0.55804
|
NM_020661.4(AICDA):c.465C>T (p.His155=)
|
rs2028373
|
0.53597
|
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)
|
rs2296241
|
0.51337
|
NM_001366722.1(GRIP1):c.1838+13G>T
|
rs7397862
|
0.49975
|
NM_148919.4(PSMB8):c.407+6C>T
|
rs9276810
|
0.42678
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001366722.1(GRIP1):c.503-15C>A
|
rs11838180
|
0.27190
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)
|
rs41292755
|
0.07615
|
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)
|
rs11554400
|
0.06936
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_001386140.1(MTTP):c.1769+14C>T
|
rs41275713
|
0.03960
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr)
|
rs147898137
|
0.01162
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)
|
rs150682895
|
0.00967
|
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)
|
rs117817123
|
0.00946
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_016038.4(SBDS):c.141C>T (p.Leu47=)
|
rs113993989
|
0.00747
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_020458.4(TTC7A):c.649-10C>T
|
rs149360779
|
0.00698
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=)
|
rs72920390
|
0.00178
|
NM_032193.4(RNASEH2C):c.468+13G>A
|
rs182000627
|
0.00178
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)
|
rs143534021
|
0.00038
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_005548.3(KARS1):c.223-6del
|
rs370077957
|
|
NM_005548.3(KARS1):c.223-7_223-6del
|
rs370077957
|
|
NM_020964.3(EPG5):c.6622-7del
|
rs11333207
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|