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.1175del (p.Ile392fs)
|
rs1815414782
|
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.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)
|
rs781174906
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NC_000007.13:g.(?_33185855)_(33195324_?)del
|
|
|
NC_000007.13:g.(?_33296828)_(33313588_?)del
|
|
|
NC_000007.13:g.(?_33296828)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33376033)_(33427776_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33388802_?)del
|
|
|
NC_000007.13:g.(?_33388660)_(33397627_?)del
|
|
|
NC_000007.13:g.(?_33423258)_(33427776_?)dup
|
|
|
NM_198428.2(BBS9):c.(?_-1)_328+?del
|
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
|
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
|
|
|
NM_198428.3(BBS9):c.113-2A>G
|
rs1562686929
|
|
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
|
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
|
rs2128667543
|
|
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
|
rs1401715737
|
|
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
|
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789+1G>T
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
|
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
|
|
|
NM_198428.3(BBS9):c.2097dup (p.Asp700fs)
|
rs2128756914
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
|
|
|
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
|
|
|
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
|
|
|
NM_198428.3(BBS9):c.244del (p.Glu82fs)
|
rs2128108391
|
|
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
|
|
|
NM_198428.3(BBS9):c.2536del (p.Ile846fs)
|
rs1864348159
|
|
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
|
|
|
NM_198428.3(BBS9):c.263+1G>T
|
rs137962929
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
|
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
|
|
|
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
|
|
|
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
|
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
|
|
|
NM_198428.3(BBS9):c.621_702+3del
|
|
|
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)
|
rs1562917450
|
|
NM_198428.3(BBS9):c.751dup (p.Val251fs)
|
rs2128344662
|
|
NM_198428.3(BBS9):c.754del (p.Ser252fs)
|
rs2128344706
|
|
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
|
|
|
NM_198428.3(BBS9):c.801_803del (p.Phe269del)
|
rs780367770
|
|
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
|
|
|
NM_198428.3(BBS9):c.829del (p.Ile277fs)
|
|
|
NM_198428.3(BBS9):c.839dup (p.Met280fs)
|
|
|
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)
|
rs2128345173
|
|
NM_198428.3(BBS9):c.956del (p.Thr319fs)
|
rs886039799
|
|
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
|
|
|