NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_024685.3(BBS10):c.-71C>T
|
rs569445445
|
0.00293
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_024685.4(BBS10):c.*955T>C
|
rs141408782
|
0.00093
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_024685.4(BBS10):c.*106C>T
|
rs886049847
|
0.00045
|
NM_024685.4(BBS10):c.*947G>T
|
rs533206499
|
0.00042
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)
|
rs149596527
|
0.00040
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
NM_024685.4(BBS10):c.*529C>T
|
rs571517922
|
0.00032
|
NM_024685.4(BBS10):c.*1197A>G
|
rs1021806409
|
0.00024
|
NM_024685.4(BBS10):c.*773T>C
|
rs549588883
|
0.00024
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_024685.4(BBS10):c.*1250A>G
|
rs182439491
|
0.00012
|
NM_024685.4(BBS10):c.*734G>T
|
rs750187536
|
0.00011
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
NM_024685.4(BBS10):c.-48C>G
|
rs752162179
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)
|
rs201335653
|
0.00008
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_024685.4(BBS10):c.375G>A (p.Arg125=)
|
rs376030299
|
0.00007
|
NM_024685.4(BBS10):c.*1325T>C
|
rs571032291
|
0.00006
|
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)
|
rs56867176
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)
|
rs753629989
|
0.00005
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_024685.4(BBS10):c.*1164A>G
|
rs922929416
|
0.00004
|
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)
|
rs1021050605
|
0.00004
|
NM_024685.4(BBS10):c.1548A>T (p.Thr516=)
|
rs771662934
|
0.00004
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
|
rs141647931
|
0.00004
|
NM_024685.4(BBS10):c.1882A>G (p.Met628Val)
|
rs760505134
|
0.00004
|
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
|
rs766733372
|
0.00004
|
NM_024685.4(BBS10):c.*1140A>G
|
rs886049842
|
0.00003
|
NM_024685.4(BBS10):c.*1204T>A
|
rs886049839
|
0.00003
|
NM_024685.4(BBS10):c.*177T>G
|
rs189856910
|
0.00003
|
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)
|
rs767572725
|
0.00003
|
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
|
rs774809155
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile)
|
rs780966013
|
0.00003
|
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)
|
rs773540960
|
0.00003
|
NM_024685.4(BBS10):c.198-3C>T
|
rs779659204
|
0.00003
|
NM_024685.4(BBS10):c.1A>G (p.Met1Val)
|
rs752145803
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)
|
rs761897354
|
0.00002
|
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
|
rs1484593364
|
0.00002
|
NM_024685.4(BBS10):c.1230T>G (p.His410Gln)
|
rs1447555059
|
0.00002
|
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly)
|
rs760904517
|
0.00002
|
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)
|
rs770239827
|
0.00002
|
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys)
|
rs765785183
|
0.00002
|
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
|
rs373626588
|
0.00002
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu)
|
rs757995171
|
0.00002
|
NM_024685.4(BBS10):c.198-10T>C
|
rs376497190
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024685.4(BBS10):c.559C>A (p.His187Asn)
|
rs753964273
|
0.00002
|
NM_024685.4(BBS10):c.788C>T (p.Thr263Ile)
|
rs746826888
|
0.00002
|
NM_024685.3(BBS10):c.-66C>T
|
rs886049854
|
0.00001
|
NM_024685.4(BBS10):c.*1041G>T
|
rs1184051032
|
0.00001
|
NM_024685.4(BBS10):c.*1113G>C
|
rs1432385652
|
0.00001
|
NM_024685.4(BBS10):c.*119G>A
|
rs886049846
|
0.00001
|
NM_024685.4(BBS10):c.*264A>T
|
rs556444502
|
0.00001
|
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)
|
rs938066133
|
0.00001
|
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)
|
rs1289641509
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg)
|
rs1951762407
|
0.00001
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
0.00001
|
NM_024685.4(BBS10):c.1234G>C (p.Asp412His)
|
rs1413288461
|
0.00001
|
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
|
rs1460652135
|
0.00001
|
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)
|
rs933207351
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
0.00001
|
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
|
rs1951758303
|
0.00001
|
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)
|
rs1444034224
|
0.00001
|
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
|
rs758489303
|
0.00001
|
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)
|
rs1453771610
|
0.00001
|
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)
|
rs144428139
|
0.00001
|
NM_024685.4(BBS10):c.190A>G (p.Ile64Val)
|
rs755814743
|
0.00001
|
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val)
|
rs748647079
|
0.00001
|
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly)
|
rs780874811
|
0.00001
|
NM_024685.4(BBS10):c.197+5C>T
|
rs754503828
|
0.00001
|
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)
|
rs376613074
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_024685.4(BBS10):c.1992A>G (p.Ala664=)
|
rs758730453
|
0.00001
|
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)
|
rs778614911
|
0.00001
|
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)
|
rs756069503
|
0.00001
|
NM_024685.4(BBS10):c.206T>A (p.Val69Glu)
|
rs1176176320
|
0.00001
|
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)
|
rs202134724
|
0.00001
|
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
|
rs959224608
|
0.00001
|
NM_024685.4(BBS10):c.2169A>G (p.Leu723=)
|
rs1395342080
|
0.00001
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala)
|
rs899733320
|
0.00001
|
NM_024685.4(BBS10):c.270T>G (p.Leu90=)
|
rs200390697
|
0.00001
|
NM_024685.4(BBS10):c.292C>A (p.His98Asn)
|
rs748465517
|
0.00001
|
NM_024685.4(BBS10):c.327G>A (p.Met109Ile)
|
rs1051916652
|
0.00001
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala)
|
rs147432159
|
0.00001
|
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
|
rs1254886838
|
0.00001
|
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
|
rs936655028
|
0.00001
|
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)
|
rs766572403
|
0.00001
|
NM_024685.4(BBS10):c.393G>A (p.Gln131=)
|
rs369066076
|
0.00001
|
NM_024685.4(BBS10):c.397C>G (p.Leu133Val)
|
rs750446869
|
0.00001
|
NM_024685.4(BBS10):c.411G>T (p.Gln137His)
|
rs775342373
|
0.00001
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)
|
rs753138845
|
0.00001
|
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr)
|
rs1316090880
|
0.00001
|
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro)
|
rs777951931
|
0.00001
|
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
|
rs772739860
|
0.00001
|
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
|
rs768475584
|
0.00001
|
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg)
|
rs1396450993
|
0.00001
|
NM_024685.4(BBS10):c.85G>T (p.Val29Leu)
|
rs752267054
|
0.00001
|
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
|
rs759385121
|
0.00001
|
NM_024685.4(BBS10):c.955G>C (p.Val319Leu)
|
rs769233464
|
0.00001
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
NC_000012.11:g.(?_76739593)_(76742138_?)dup
|
|
|
NM_024685.4(BBS10):c.*1145A>C
|
rs886049841
|
|
NM_024685.4(BBS10):c.*1189dup
|
rs886049840
|
|
NM_024685.4(BBS10):c.*1241_*1244del
|
rs886049838
|
|
NM_024685.4(BBS10):c.*1275A>C
|
rs886049837
|
|
NM_024685.4(BBS10):c.*48G>C
|
rs1951752530
|
|
NM_024685.4(BBS10):c.*641AT[2]
|
rs886049845
|
|
NM_024685.4(BBS10):c.*891T>C
|
rs886049844
|
|
NM_024685.4(BBS10):c.*930A>G
|
rs886049843
|
|
NM_024685.4(BBS10):c.-4A>G
|
rs886049853
|
|
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)
|
rs1555202655
|
|
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
|
|
|
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly)
|
rs752630373
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
|
rs1951764046
|
|
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
|
|
|
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
|
|
|
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
|
|
|
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
|
|
|
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile)
|
rs779201114
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
|
|
|
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys)
|
rs1565809819
|
|
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
|
rs1951763406
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe)
|
rs1951763168
|
|
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)
|
rs775492103
|
|
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly)
|
rs2136090562
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
|
|
|
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
|
|
|
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)
|
rs1951762690
|
|
NM_024685.4(BBS10):c.1185C>G (p.His395Gln)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
|
|
|
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
|
|
|
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
|
|
|
NM_024685.4(BBS10):c.1203A>T (p.Gly401=)
|
rs1951762391
|
|
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
|
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
|
rs1951761840
|
|
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
|
|
|
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
|
|
|
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu)
|
rs987403283
|
|
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
|
|
|
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)
|
rs767108821
|
|
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
|
|
|
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
|
rs1951778317
|
|
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
|
|
|
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
|
|
|
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)
|
rs763473990
|
|
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)
|
rs763473990
|
|
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
|
|
|
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
|
|
|
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)
|
rs1429011304
|
|
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu)
|
rs1478926935
|
|
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr)
|
rs886049850
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
|
|
|
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
|
|
|
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
|
|
|
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
|
|
|
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024685.4(BBS10):c.1530A>G (p.Thr510=)
|
rs1951758841
|
|
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
|
|
|
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
|
|
|
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
|
|
|
NM_024685.4(BBS10):c.1566G>T (p.Thr522=)
|
rs1200334802
|
|
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met)
|
rs886049849
|
|
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
|
|
|
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
|
|
|
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser)
|
rs2136090095
|
|
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
|
|
|
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val)
|
rs1951758028
|
|
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His)
|
rs2136090060
|
|
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
|
|
|
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
|
|
|
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
|
|
|
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
|
|
|
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
|
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
|
|
|
NM_024685.4(BBS10):c.1747A>G (p.Met583Val)
|
rs2136089937
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val)
|
rs1264836197
|
|
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
|
|
|
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
|
|
|
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)
|
rs756523417
|
|
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
|
|
|
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala)
|
rs1951755940
|
|
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
|
|
|
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys)
|
rs749876979
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
NM_024685.4(BBS10):c.1865A>G (p.His622Arg)
|
rs1453149575
|
|
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
|
rs768385647
|
|
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr)
|
rs371540031
|
|
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
|
|
|
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu)
|
rs2136091508
|
|
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
|
|
|
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
|
|
|
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly)
|
rs12099880
|
|
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val)
|
rs113224628
|
|
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
|
|
|
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
|
|
|
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
|
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
|
|
|
NM_024685.4(BBS10):c.197+4C>T
|
rs886049852
|
|
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
|
|
|
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
|
|
|
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
|
|
|
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
|
|
|
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)
|
rs1555202553
|
|
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
|
|
|
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr)
|
rs750428156
|
|
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
|
|
|
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
|
rs1565809262
|
|
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
|
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
|
|
|
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
|
|
|
NM_024685.4(BBS10):c.2146A>C (p.Asn716His)
|
rs1951753000
|
|
NM_024685.4(BBS10):c.2157A>G (p.Ser719=)
|
rs1951752945
|
|
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
|
|
|
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
|
|
|
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly)
|
rs1216242140
|
|
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
|
|
|
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
|
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
|
|
|
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
|
|
|
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
|
|
|
NM_024685.4(BBS10):c.326T>C (p.Met109Thr)
|
rs2136091232
|
|
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr)
|
rs2136091229
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
|
|
|
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
|
|
|
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr)
|
rs2136091207
|
|
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
|
|
|
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)
|
rs1592492746
|
|
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
|
rs750446869
|
|
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
|
rs769181256
|
|
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg)
|
rs573346325
|
|
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
|
|
|
NM_024685.4(BBS10):c.460T>C (p.Leu154=)
|
rs754415474
|
|
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
|
|
|
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
|
|
|
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
|
|
|
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
|
|
|
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
|
|
|
NM_024685.4(BBS10):c.524_526del (p.Glu175del)
|
rs2136091044
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.544G>C (p.Val182Leu)
|
rs890996897
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)
|
rs1239540905
|
|
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu)
|
rs1951767969
|
|
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
|
|
|
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
|
rs1318745309
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
|
|
|
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
|
rs1396355979
|
|
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
|
|
|
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
|
|
|
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
|
|
|
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
|
|
|
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
|
|
|
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
|
|
|
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
|
|
|
NM_024685.4(BBS10):c.681C>G (p.Gly227=)
|
rs886049851
|
|
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
|
|
|
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
|
|
|
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
|
|
|
NM_024685.4(BBS10):c.708A>G (p.Ile236Met)
|
rs1193290653
|
|
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
|
|
|
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)
|
rs1242888821
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
|
|
|
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
|
|
|
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser)
|
rs1236502453
|
|
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
|
|
|
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
|
|
|
NM_024685.4(BBS10):c.800T>A (p.Leu267His)
|
rs1592492358
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
|
|
|
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
|
|
|
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
|
|
|
NM_024685.4(BBS10):c.901C>G (p.Leu301Val)
|
rs1555202666
|
|
NM_024685.4(BBS10):c.904C>T (p.His302Tyr)
|
rs954562822
|
|
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
|
|
|
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe)
|
rs2136090757
|
|
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
|
rs1486182131
|
|
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
|
|
|
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)
|
rs1951764875
|
|
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala)
|
rs2136090741
|
|
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys)
|
rs1208975003
|
|
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
|
|
|
NM_024685.4(BBS10):c.969A>G (p.Ala323=)
|
rs1951764520
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|