NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
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.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
BBS5, 8-BP DEL/7-BP INS, NT263
|
|
|
NC_000002.11:g.(?_170336064)_(170336142_?)del
|
|
|
NC_000002.11:g.(?_170338741)_(170343664_?)del
|
|
|
NC_000002.11:g.(?_170349364)_(170350366_?)del
|
|
|
NC_000002.11:g.(?_170359585)_(170361092_?)del
|
|
|
NC_000002.12:g.(?_169492874)_(169493836_?)del
|
|
|
NC_000002.12:g.169493742dup
|
|
|
NC_000002.12:g.169504481_169504487del
|
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.143-1G>A
|
rs1054138918
|
|
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
|
rs2468036514
|
|
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)
|
rs1559121920
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.198del (p.Val67fs)
|
rs2468036567
|
|
NM_152384.3(BBS5):c.204dup (p.Val69fs)
|
|
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.406del (p.Met136fs)
|
rs2105297751
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
rs2468041599
|
|
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.444del (p.Asn149fs)
|
rs1433293836
|
|
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)
|
rs2105297825
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)
|
rs121908582
|
|
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
|
rs2468042346
|
|
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
|
rs2468042360
|
|
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)
|
rs1683644409
|
|
NM_152384.3(BBS5):c.562dup (p.Val188fs)
|
rs1244442256
|
|
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
|
rs1683644662
|
|
NM_152384.3(BBS5):c.623C>G (p.Ser208Ter)
|
|
|
NM_152384.3(BBS5):c.655del (p.Ala219fs)
|
rs2105300418
|
|
NM_152384.3(BBS5):c.681+1G>T
|
rs2105300442
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152384.3(BBS5):c.808G>T (p.Glu270Ter)
|
|
|
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
|
rs759233586
|
|
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)
|
rs2105304338
|
|
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
|
rs1285925896
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
NM_152384.3:c.(?_-60)_(386+1_387-1)del
|
|
|