NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_015910.7(WDPCP):c.209-1G>A
|
rs767481770
|
0.00006
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
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_031885.5(BBS2):c.1080+2T>C
|
rs771554923
|
0.00001
|
NM_031885.5(BBS2):c.117+1G>A
|
rs1964866367
|
0.00001
|
NM_031885.5(BBS2):c.1398-2A>G
|
rs767609303
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.612+1G>T
|
rs1964531402
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152384.3(BBS5):c.817-1G>T
|
rs1466289570
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NC_000002.11:g.(?_63380029)_(63380729_?)dup
|
|
|
NC_000007.13:g.(?_33192293)_(33192483_?)dup
|
|
|
NC_000007.13:g.(?_33195240)_(33195324_?)dup
|
|
|
NC_000007.13:g.(?_33312604)_(33313588_?)dup
|
|
|
NC_000011.9:g.(?_66281867)_(66288857_?)dup
|
|
|
NC_000011.9:g.(?_66290917)_(66294288_?)dup
|
|
|
NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
NM_015910.7(WDPCP):c.1436-1G>C
|
rs959923850
|
|
NM_015910.7(WDPCP):c.161-1G>C
|
|
|
NM_015910.7(WDPCP):c.1813-2A>T
|
rs2104772718
|
|
NM_015910.7(WDPCP):c.1915+2del
|
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856
|
|
NM_015910.7(WDPCP):c.253+1G>A
|
|
|
NM_015910.7(WDPCP):c.633+2T>C
|
rs765356177
|
|
NM_015910.7(WDPCP):c.75+1G>T
|
rs1486299333
|
|
NM_015910.7(WDPCP):c.825+1G>A
|
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1110+1G>C
|
rs2134797993
|
|
NM_024649.5(BBS1):c.1110+2T>C
|
|
|
NM_024649.5(BBS1):c.1110+2T>G
|
rs1565286223
|
|
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
|
|
|
NM_024649.5(BBS1):c.1180+1G>T
|
|
|
NM_024649.5(BBS1):c.1181-1G>C
|
|
|
NM_024649.5(BBS1):c.1339+1G>A
|
|
|
NM_024649.5(BBS1):c.1474-1G>A
|
rs2134836650
|
|
NM_024649.5(BBS1):c.159+1G>A
|
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.160-1G>A
|
|
|
NM_024649.5(BBS1):c.480-2A>C
|
rs1856035426
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.830+2T>A
|
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
|
|
|
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.1081-1G>A
|
rs1555522000
|
|
NM_031885.5(BBS2):c.118-1G>T
|
|
|
NM_031885.5(BBS2):c.118-2A>C
|
|
|
NM_031885.5(BBS2):c.1225+2T>C
|
|
|
NM_031885.5(BBS2):c.1397+1G>A
|
rs1225299095
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
|
|
NM_031885.5(BBS2):c.1527+1G>A
|
rs2144138948
|
|
NM_031885.5(BBS2):c.1527+2T>G
|
|
|
NM_031885.5(BBS2):c.1528-1G>C
|
rs2144135065
|
|
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
|
rs1177431007
|
|
NM_031885.5(BBS2):c.1798-2A>G
|
rs2144130282
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-1G>C
|
|
|
NM_031885.5(BBS2):c.1911-986_1914del
|
|
|
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
|
rs1228731722
|
|
NM_031885.5(BBS2):c.345+1G>A
|
|
|
NM_031885.5(BBS2):c.535-1G>A
|
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
|
|
|
NM_031885.5(BBS2):c.804+1G>T
|
rs2144162056
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
rs1202682571
|
|
NM_031885.5(BBS2):c.941-2A>G
|
|
|
NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+2T>G
|
|
|
NM_033028.5(BBS4):c.332+1G>T
|
|
|
NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
NM_033028.5(BBS4):c.333-2A>C
|
|
|
NM_033028.5(BBS4):c.642+1G>A
|
|
|
NM_033028.5(BBS4):c.642+1G>T
|
|
|
NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
|
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
NM_033028.5(BBS4):c.865-3_865-2del
|
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.1387del (p.His463fs)
|
rs2141044380
|
|
NM_144596.4(TTC8):c.579+5G>A
|
rs2140977987
|
|
NM_144596.4(TTC8):c.710+1G>A
|
rs2140999630
|
|
NM_144596.4(TTC8):c.799-1G>T
|
|
|
NM_144596.4(TTC8):c.799-2A>G
|
rs771218088
|
|
NM_144596.4(TTC8):c.910-1G>A
|
rs2141033061
|
|
NM_152384.3(BBS5):c.142+1G>T
|
rs2105291750
|
|
NM_152384.3(BBS5):c.259-1G>A
|
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.59+5G>T
|
|
|
NM_152384.3(BBS5):c.60-2A>C
|
|
|
NM_152384.3(BBS5):c.681+1G>T
|
|
|
NM_152384.3(BBS5):c.817-1G>A
|
rs1466289570
|
|
NM_152618.3(BBS12):c.1225G>A (p.Val409Met)
|
rs1578491070
|
|
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
|
|
|
NM_176824.3(BBS7):c.102+1G>T
|
|
|
NM_176824.3(BBS7):c.103-268_112del
|
|
|
NM_176824.3(BBS7):c.1305+1G>A
|
|
|
NM_176824.3(BBS7):c.1305+2T>A
|
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
|
NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.166-2A>G
|
|
|
NM_176824.3(BBS7):c.1786+1G>T
|
rs1560638613
|
|
NM_176824.3(BBS7):c.1786+2T>C
|
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_198428.3(BBS9):c.1329+1738C>T
|
|
|
NM_198428.3(BBS9):c.1433-2A>G
|
|
|
NM_198428.3(BBS9):c.1552+2T>A
|
rs1563049863
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2299-2A>C
|
|
|
NM_198428.3(BBS9):c.2521+1G>T
|
|
|
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_198428.3(BBS9):c.702+1G>T
|
|
|
NM_198428.3(BBS9):c.703-2A>G
|
|
|