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_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
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_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
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.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
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_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
|
|
|
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
|
|
|
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
|
|
|
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
|
|
|
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
|
rs1964134678
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
|
|
|
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
|
|
|
NM_170784.3(MKKS):c.885dup (p.Val296fs)
|
|
|
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
|
|
|