NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_031885.5(BBS2):c.613-54C>G
|
rs4784675
|
0.16235
|
NM_031885.5(BBS2):c.-40T>C
|
rs115078074
|
0.07623
|
NM_031885.5(BBS2):c.-42T>G
|
rs78076550
|
0.07623
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_031885.5(BBS2):c.*316A>G
|
rs17341965
|
0.00814
|
NM_031885.5(BBS2):c.209= (p.Ser70=)
|
rs4784677
|
0.00466
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_031885.3(BBS2):c.-225C>T
|
rs117744577
|
0.00111
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_031885.3(BBS2):c.-191G>T
|
rs16964239
|
|
NM_031885.3(BBS2):c.-242T>C
|
rs12446354
|
|
NM_031885.5(BBS2):c.-137C>G
|
rs77438708
|
|
NM_031885.5(BBS2):c.1527+17del
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_031885.5(BBS2):c.346-12del
|
rs777667452
|
|
NM_031885.5(BBS2):c.472-13del
|
|
|
NM_031885.5(BBS2):c.534+11del
|
|
|
NM_031885.5(BBS2):c.534+11dup
|
|
|
NM_031885.5(BBS2):c.613-17dup
|
|
|
NM_031885.5(BBS2):c.613-5dup
|
|
|
NM_031885.5(BBS2):c.941-13dup
|
|
|