NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.1112del (p.Asp371fs)
|
rs1472488128
|
0.00001
|
NM_031885.5(BBS2):c.117+1G>A
|
rs1964866367
|
0.00001
|
NM_031885.5(BBS2):c.1225+2T>C
|
rs1279981768
|
0.00001
|
NM_031885.5(BBS2):c.1398-2A>G
|
rs767609303
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
|
rs1228731722
|
0.00001
|
NM_031885.5(BBS2):c.345+1G>A
|
rs771700269
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.612+1G>T
|
rs1964531402
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
GRCh38/hg38 16q13(chr16:56496014-56504285)
|
|
|
NC_000016.9:g.(?_56530859)_(56536740_?)dup
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.1080+2T>C
|
rs771554923
|
|
NM_031885.5(BBS2):c.1081-1G>A
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
NM_031885.5(BBS2):c.118-1G>T
|
rs587777825
|
|
NM_031885.5(BBS2):c.118-2A>C
|
rs2543742094
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1397+1G>A
|
rs1225299095
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
rs779506379
|
|
NM_031885.5(BBS2):c.1527+1G>A
|
rs2144138948
|
|
NM_031885.5(BBS2):c.1527+2T>G
|
rs2543704184
|
|
NM_031885.5(BBS2):c.1528-1G>C
|
rs2144135065
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
|
rs1177431007
|
|
NM_031885.5(BBS2):c.1798-2A>G
|
rs2144130282
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-1G>C
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-986_1914del
|
rs2543672661
|
|
NM_031885.5(BBS2):c.23T>C (p.Leu8Pro)
|
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.535-1G>A
|
rs2144177127
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
|
rs776681366
|
|
NM_031885.5(BBS2):c.804+1G>T
|
rs2144162056
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
rs1202682571
|
|
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)
|
rs886039797
|
|
NM_031885.5(BBS2):c.941-2A>G
|
rs878962682
|
|