NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_152384.3(BBS5):c.468A>G (p.Pro156=)
|
rs200636409
|
0.00017
|
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)
|
rs376275481
|
0.00009
|
NM_152384.3(BBS5):c.523-18C>T
|
rs201051397
|
0.00008
|
NM_152384.3(BBS5):c.60-3T>C
|
rs201553380
|
0.00008
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)
|
rs567175904
|
0.00006
|
NM_152384.3(BBS5):c.516T>C (p.Ser172=)
|
rs758562179
|
0.00006
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
|
rs757525125
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)
|
rs376537695
|
0.00004
|
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)
|
rs370849006
|
0.00003
|
NM_152384.3(BBS5):c.668A>T (p.Glu223Val)
|
rs775524491
|
0.00003
|
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)
|
rs754978707
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.259-3C>T
|
rs564412855
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.325A>G (p.Ile109Val)
|
rs758307712
|
0.00001
|
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)
|
rs375992092
|
0.00001
|
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)
|
rs1683625962
|
0.00001
|
NM_152384.3(BBS5):c.60-10T>G
|
rs1224093899
|
0.00001
|
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
|
rs759233586
|
0.00001
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
|
rs1395749164
|
0.00001
|
BBS5, 8-BP DEL/7-BP INS, NT263
|
|
|
NM_152384.3(BBS5):c.142+1del
|
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.211G>A (p.Val71Ile)
|
rs1397496181
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.386+1G>T
|
rs1559122277
|
|
NM_152384.3(BBS5):c.387-3T>C
|
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
|
|
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)
|
rs121908582
|
|
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)
|
rs1683644409
|
|
NM_152384.3(BBS5):c.569A>C (p.His190Pro)
|
rs755408078
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152384.3(BBS5):c.791G>T (p.Gly264Val)
|
rs1574342816
|
|
NM_152384.3(BBS5):c.898del (p.Val300fs)
|
rs2105303591
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
NM_152384.3:c.(?_-60)_(386+1_387-1)del
|
|
|