NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_001177701.3(IFT27):c.352+1G>T
|
rs780659194
|
0.00009
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
NM_024649.5(BBS1):c.1473+4A>G
|
rs1486200900
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter)
|
rs1306231185
|
0.00001
|
NC_000002.12:g.169477282_169483199del
|
|
|
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)
|
rs1569077441
|
|
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)
|
rs2037752645
|
|
NM_024649.4(BBS1):c.1111-?_1695+?del
|
|
|
NM_024649.4(BBS1):c.592-?_830+?del
|
|
|
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
|
|
|
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
|
|
|
NM_024649.4:c.160-?_1110+?del
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)
|
rs1565291081
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
|
rs1363498219
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)
|
rs1565810301
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.559_561del (p.His187del)
|
rs781421232
|
|
NM_024685.4(BBS10):c.724del (p.Gln242fs)
|
rs1565809995
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_033028.4(BBS4):c.157-?_220+?del
|
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
|
|
|
NM_033028.5(BBS4):c.657del (p.Lys220fs)
|
rs1567427651
|
|
NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)
|
rs1559121920
|
|
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
|
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_170784.3(MKKS):c.1478del (p.Leu493fs)
|
rs1568662687
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)
|
rs1568666460
|
|
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)
|
rs74315397
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_198428.3(BBS9):c.113-2A>G
|
rs1562686929
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)
|
rs1562917450
|
|