NM_198428.3(BBS9):c.1330-62C>T
|
rs9785054
|
0.99266
|
NM_198428.3(BBS9):c.112+106C>G
|
rs1969575
|
0.84009
|
NM_198428.3(BBS9):c.*110C>T
|
rs1050721
|
0.45573
|
NM_198428.3(BBS9):c.*103T>C
|
rs1050719
|
0.40841
|
NM_198428.3(BBS9):c.1275+88T>C
|
rs10486527
|
0.26919
|
NM_198428.3(BBS9):c.1275+13G>T
|
rs11981364
|
0.26909
|
NM_198428.3(BBS9):c.702+232T>C
|
rs7793862
|
0.25565
|
NM_198428.3(BBS9):c.112+234C>T
|
rs60310820
|
0.20141
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_198428.3(BBS9):c.1432+328C>T
|
rs4270862
|
0.17524
|
NM_198428.3(BBS9):c.264-131G>A
|
rs12701275
|
0.15966
|
NM_198428.3(BBS9):c.263+39A>G
|
rs17169881
|
0.15964
|
NM_198428.3(BBS9):c.113-147T>C
|
rs1406606
|
0.15945
|
NM_198428.3(BBS9):c.-11-245T>C
|
rs13244450
|
0.15520
|
NM_198428.3(BBS9):c.112+90T>A
|
rs116927029
|
0.15502
|
NM_198428.3(BBS9):c.112+89T>G
|
rs77462109
|
0.15501
|
NM_198428.3(BBS9):c.263+128G>T
|
rs10241188
|
0.15421
|
NM_198428.3(BBS9):c.1537+154G>A
|
rs35557465
|
0.15165
|
NM_198428.3(BBS9):c.1538-91A>G
|
rs11769616
|
0.15160
|
NM_198428.3(BBS9):c.1789+250G>C
|
rs3735420
|
0.15093
|
NM_198428.3(BBS9):c.328+246G>C
|
rs34171272
|
0.14377
|
NM_198428.3(BBS9):c.702+121A>G
|
rs7810388
|
0.14176
|
NM_198428.3(BBS9):c.703-139del
|
rs11308055
|
0.11362
|
NM_198428.3(BBS9):c.112+341A>G
|
rs143737725
|
0.10529
|
NM_198428.3(BBS9):c.328+212T>C
|
rs3828996
|
0.09960
|
NM_198428.3(BBS9):c.1537+204T>A
|
rs6955645
|
0.07863
|
NM_198428.3(BBS9):c.886+219A>C
|
rs7803922
|
0.07823
|
NM_198428.3(BBS9):c.263+137C>T
|
rs34249217
|
0.06481
|
NM_198428.3(BBS9):c.1537+159A>T
|
rs76983967
|
0.05923
|
NM_198428.3(BBS9):c.2299-350A>G
|
rs17170282
|
0.05184
|
NM_198428.3(BBS9):c.328+22G>A
|
rs6462461
|
0.04897
|
NM_198428.3(BBS9):c.618-54T>G
|
rs41276009
|
0.04033
|
NM_198428.3(BBS9):c.1017-6T>C
|
rs61756571
|
0.03520
|
NM_198428.3(BBS9):c.1553-102G>A
|
rs77658276
|
0.03406
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_198428.3(BBS9):c.1284C>T (p.Thr428=)
|
rs6964382
|
0.02858
|
NM_198428.3(BBS9):c.1433-328C>A
|
rs111340925
|
0.02812
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_198428.3(BBS9):c.*138A>C
|
rs59454255
|
0.01586
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)
|
rs142434516
|
0.00185
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val)
|
rs144112103
|
0.00034
|
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)
|
rs769669385
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)
|
rs140821420
|
0.00016
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
|
rs369647403
|
0.00011
|
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)
|
rs372412756
|
0.00010
|
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)
|
rs143016114
|
0.00008
|
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met)
|
rs137993290
|
0.00006
|
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg)
|
rs561404900
|
0.00004
|
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)
|
rs150826095
|
0.00004
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
|
rs757754301
|
0.00003
|
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)
|
rs368704638
|
0.00003
|
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)
|
rs760800602
|
0.00002
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)
|
rs773192233
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
|
rs1279852557
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
GRCh37/hg19 7p14.3(chr7:33191099-33257303)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33248422-33611480)x4
|
|
|
GRCh37/hg19 7p14.3(chr7:33251174-33415723)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33304341-33457501)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33327326-33587544)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33431363-33552840)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33450970-33586514)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33467039-33531339)x1
|
|
|
GRCh37/hg19 7p14.3(chr7:33489068-33722022)x3
|
|
|
GRCh37/hg19 7p14.3(chr7:33586413-33813723)x3
|
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1113T>A (p.Val371=)
|
rs1584387772
|
|
NM_198428.3(BBS9):c.112+352_112+354del
|
rs36056577
|
|
NM_198428.3(BBS9):c.113-6C>T
|
rs1368410932
|
|
NM_198428.3(BBS9):c.113-8C>T
|
rs1193975738
|
|
NM_198428.3(BBS9):c.1167del (p.Ile391fs)
|
rs886042258
|
|
NM_198428.3(BBS9):c.1308T>C (p.Leu436=)
|
rs886043248
|
|
NM_198428.3(BBS9):c.1432+47T>A
|
rs73101660
|
|
NM_198428.3(BBS9):c.1468del (p.Tyr490fs)
|
rs1454474832
|
|
NM_198428.3(BBS9):c.158G>T (p.Ser53Ile)
|
rs2128108169
|
|
NM_198428.3(BBS9):c.1713T>C (p.Asp571=)
|
rs1584516022
|
|
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
|
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1875A>G (p.Glu625=)
|
rs1584588891
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs)
|
rs1825528981
|
|
NM_198428.3(BBS9):c.2072C>G (p.Pro691Arg)
|
rs759571062
|
|
NM_198428.3(BBS9):c.2116-177dup
|
rs3832512
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.329-6C>T
|
rs1445078208
|
|
NM_198428.3(BBS9):c.329-7dup
|
rs753552530
|
|
NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter)
|
rs1562888583
|
|
NM_198428.3(BBS9):c.801_803del (p.Phe269del)
|
rs780367770
|
|
Single allele
|
|
|