NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
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_176824.3(BBS7):c.186C>T (p.Pro62=)
|
rs35194418
|
0.00662
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|