NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_024649.5(BBS1):c.6C>T (p.Ala2=)
|
rs143592479
|
0.00009
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_024649.5(BBS1):c.569A>T (p.Lys190Met)
|
rs778672601
|
0.00006
|
NM_024649.5(BBS1):c.551C>T (p.Ala184Val)
|
rs372673129
|
0.00005
|
NM_024649.5(BBS1):c.163G>A (p.Val55Met)
|
rs181765153
|
0.00004
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu)
|
rs778339359
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)
|
rs759253107
|
0.00004
|
NM_024649.5(BBS1):c.485C>T (p.Thr162Met)
|
rs148576114
|
0.00004
|
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)
|
rs368510687
|
0.00004
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
0.00003
|
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
|
rs765960634
|
0.00003
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
|
rs141429900
|
0.00002
|
NM_024649.5(BBS1):c.329C>A (p.Pro110His)
|
rs750288768
|
0.00002
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)
|
rs761601575
|
0.00002
|
NM_024649.5(BBS1):c.518+5G>A
|
rs1428618323
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024649.5(BBS1):c.104A>G (p.His35Arg)
|
rs775990952
|
0.00001
|
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)
|
rs745375133
|
0.00001
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
NM_024649.5(BBS1):c.159G>A (p.Lys53=)
|
rs1262106058
|
0.00001
|
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg)
|
rs763878620
|
0.00001
|
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)
|
rs767385250
|
0.00001
|
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
|
rs1479663514
|
0.00001
|
NM_024649.5(BBS1):c.280A>G (p.Met94Val)
|
rs1376711744
|
0.00001
|
NM_024649.5(BBS1):c.32C>T (p.Ala11Val)
|
rs150122944
|
0.00001
|
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe)
|
rs753517084
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
|
rs544997496
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser)
|
rs762511224
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024649.5(BBS1):c.464T>C (p.Met155Thr)
|
rs879524751
|
0.00001
|
NM_024649.5(BBS1):c.48C>T (p.Ser16=)
|
rs200255383
|
0.00001
|
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
|
rs748946143
|
0.00001
|
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
|
rs774163850
|
0.00001
|
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly)
|
rs1454643152
|
0.00001
|
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
|
rs1207942097
|
0.00001
|
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)
|
rs142769864
|
0.00001
|
NM_024649.5(BBS1):c.595G>A (p.Val199Ile)
|
rs1300549627
|
0.00001
|
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)
|
rs1368294392
|
0.00001
|
NM_024649.5(BBS1):c.636C>T (p.Asp212=)
|
rs775900681
|
0.00001
|
NM_024649.5(BBS1):c.646G>A (p.Val216Met)
|
rs764165386
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
NC_000011.9:g.(?_66278131)_(66278730_?)dup
|
|
|
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
|
|
|
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
|
|
|
NM_024649.5(BBS1):c.159+4A>G
|
|
|
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
|
|
|
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
|
rs1856007588
|
|
NM_024649.5(BBS1):c.198C>T (p.Pro66=)
|
rs1856007679
|
|
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
|
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
|
rs377037816
|
|
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
|
|
|
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser)
|
rs2134771356
|
|
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe)
|
rs2134771383
|
|
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
|
|
|
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
|
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)
|
rs137853913
|
|
NM_024649.5(BBS1):c.337T>C (p.Tyr113His)
|
rs2134771484
|
|
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
|
rs753517084
|
|
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
|
|
|
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
|
|
|
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
|
|
|
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
|
|
|
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
|
|
|
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
|
|
|
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu)
|
rs1486897768
|
|
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
|
|
|
NM_024649.5(BBS1):c.480-28G>C
|
|
|
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
|
|
|
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
|
rs148576114
|
|
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly)
|
rs1319438351
|
|
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe)
|
rs1026985396
|
|
NM_024649.5(BBS1):c.57C>G (p.Ala19=)
|
rs755026677
|
|
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
|
|
|
NM_024649.5(BBS1):c.592-20C>G
|
rs778903752
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
|
|
|
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
|
|
|
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
|
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
|
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
|
|
|
NM_024649.5(BBS1):c.723+14C>G
|
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
|
|
|
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys)
|
rs1263024783
|
|
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
|
|
|