NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)
|
rs748601675
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_198428.3(BBS9):c.1016+5G>T
|
rs1800274291
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
|
|
|
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
|
|
|
NM_198428.3(BBS9):c.1275+1G>A
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1432+2T>G
|
|
|
NM_198428.3(BBS9):c.1694-2A>G
|
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
|
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
|
|
|
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
|
|
|
NM_198428.3(BBS9):c.1963-1G>T
|
|
|
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
|
|
|
NM_198428.3(BBS9):c.2116-2A>T
|
|
|
NM_198428.3(BBS9):c.2299-2A>C
|
|
|
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
|
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.360del (p.Gln120fs)
|
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
|
|
|
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
|
|
|
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
|
|
|
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
|
|
|