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.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
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.2220G>A (p.Leu740=)
|
rs115809567
|
0.00765
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_198428.3(BBS9):c.-305T>G
|
rs112060099
|
0.00592
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_198428.3(BBS9):c.390T>C (p.Asn130=)
|
rs78283245
|
0.00370
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
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.2646C>A (p.Leu882=)
|
rs61753527
|
0.00088
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
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.1432+7T>G
|
rs150963080
|
0.00058
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_198428.3(BBS9):c.2322C>T (p.Ala774=)
|
rs145435891
|
0.00037
|
NM_198428.3(BBS9):c.887-7C>T
|
rs376333670
|
0.00036
|
NM_198428.3(BBS9):c.666T>A (p.Thr222=)
|
rs145385875
|
0.00035
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val)
|
rs144112103
|
0.00034
|
NM_198428.3(BBS9):c.2460C>T (p.Ser820=)
|
rs142563811
|
0.00031
|
NM_198428.3(BBS9):c.*444G>A
|
rs75625812
|
0.00030
|
NM_198428.3(BBS9):c.2115+20C>T
|
rs779186804
|
0.00028
|
NM_198428.3(BBS9):c.621C>T (p.Tyr207=)
|
rs140169161
|
0.00026
|
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
|
rs144672900
|
0.00024
|
NM_198428.3(BBS9):c.113-13A>T
|
rs766360617
|
0.00022
|
NM_198428.3(BBS9):c.328+18C>T
|
rs201767914
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_198428.3(BBS9):c.886+14T>G
|
rs368019366
|
0.00019
|
NM_198428.3(BBS9):c.1790-16A>G
|
rs545383863
|
0.00011
|
NM_198428.3(BBS9):c.2022G>T (p.Arg674=)
|
rs561957887
|
0.00011
|
NM_198428.3(BBS9):c.195C>T (p.Ala65=)
|
rs373063776
|
0.00010
|
NM_198428.3(BBS9):c.1963-13T>C
|
rs775660869
|
0.00010
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_198428.3(BBS9):c.1538-9G>T
|
rs770317221
|
0.00008
|
NM_198428.3(BBS9):c.2313G>A (p.Thr771=)
|
rs374269883
|
0.00008
|
NM_198428.3(BBS9):c.2241C>T (p.Asp747=)
|
rs144089673
|
0.00007
|
NM_198428.3(BBS9):c.1560G>A (p.Pro520=)
|
rs779586578
|
0.00006
|
NM_198428.3(BBS9):c.174A>G (p.Lys58=)
|
rs148812031
|
0.00006
|
NM_198428.3(BBS9):c.2115+19A>G
|
rs184420556
|
0.00006
|
NM_198428.3(BBS9):c.2521+16A>G
|
rs781066901
|
0.00006
|
NM_198428.3(BBS9):c.270C>T (p.Thr90=)
|
rs747398844
|
0.00005
|
NM_198428.3(BBS9):c.113-14T>A
|
rs543714605
|
0.00004
|
NM_198428.3(BBS9):c.1198+13C>T
|
rs753894974
|
0.00004
|
NM_198428.3(BBS9):c.1276-17C>T
|
rs199758277
|
0.00004
|
NM_198428.3(BBS9):c.1611A>C (p.Pro537=)
|
rs140411078
|
0.00004
|
NM_198428.3(BBS9):c.600A>G (p.Gln200=)
|
rs764060515
|
0.00004
|
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
|
rs751112173
|
0.00004
|
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
|
rs139235142
|
0.00003
|
NM_198428.3(BBS9):c.1377C>T (p.Val459=)
|
rs763552337
|
0.00003
|
NM_198428.3(BBS9):c.1553-11T>C
|
rs756802547
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_198428.3(BBS9):c.2487C>T (p.Thr829=)
|
rs746373450
|
0.00003
|
NM_198428.3(BBS9):c.2538C>T (p.Ile846=)
|
rs376692708
|
0.00003
|
NM_198428.3(BBS9):c.528T>A (p.Pro176=)
|
rs757308943
|
0.00003
|
NM_198428.3(BBS9):c.102A>T (p.Gly34=)
|
rs753601080
|
0.00002
|
NM_198428.3(BBS9):c.1553-17T>A
|
rs1297146159
|
0.00002
|
NM_198428.3(BBS9):c.2445C>G (p.Leu815=)
|
rs758338410
|
0.00002
|
NM_198428.3(BBS9):c.249A>T (p.Val83=)
|
rs377626008
|
0.00002
|
NM_198428.3(BBS9):c.2633-15T>C
|
rs757904510
|
0.00002
|
NM_198428.3(BBS9):c.1016+13A>G
|
rs1800275981
|
0.00001
|
NM_198428.3(BBS9):c.1016+9T>C
|
rs1368671043
|
0.00001
|
NM_198428.3(BBS9):c.1056T>A (p.Gly352=)
|
rs1815379840
|
0.00001
|
NM_198428.3(BBS9):c.112+13C>A
|
rs1562672800
|
0.00001
|
NM_198428.3(BBS9):c.1287T>C (p.Asp429=)
|
rs765234386
|
0.00001
|
NM_198428.3(BBS9):c.1329+5T>C
|
rs200033003
|
0.00001
|
NM_198428.3(BBS9):c.1464T>C (p.Ser488=)
|
rs200850911
|
0.00001
|
NM_198428.3(BBS9):c.1537+14C>T
|
rs754694089
|
0.00001
|
NM_198428.3(BBS9):c.1593A>G (p.Leu531=)
|
rs1819915912
|
0.00001
|
NM_198428.3(BBS9):c.1686C>T (p.Leu562=)
|
rs1278366304
|
0.00001
|
NM_198428.3(BBS9):c.1790-15A>T
|
rs758380962
|
0.00001
|
NM_198428.3(BBS9):c.1790-7C>T
|
rs746901030
|
0.00001
|
NM_198428.3(BBS9):c.1815A>G (p.Gln605=)
|
rs1292611620
|
0.00001
|
NM_198428.3(BBS9):c.1963-11A>G
|
rs749640684
|
0.00001
|
NM_198428.3(BBS9):c.2070C>G (p.Ala690=)
|
rs200515072
|
0.00001
|
NM_198428.3(BBS9):c.2116-4G>T
|
rs769866686
|
0.00001
|
NM_198428.3(BBS9):c.2136A>G (p.Ala712=)
|
rs1200861380
|
0.00001
|
NM_198428.3(BBS9):c.2142G>A (p.Glu714=)
|
rs1846024220
|
0.00001
|
NM_198428.3(BBS9):c.2208G>A (p.Leu736=)
|
rs758765828
|
0.00001
|
NM_198428.3(BBS9):c.2274G>A (p.Pro758=)
|
rs746134918
|
0.00001
|
NM_198428.3(BBS9):c.231A>G (p.Pro77=)
|
rs763936170
|
0.00001
|
NM_198428.3(BBS9):c.2433T>C (p.His811=)
|
rs1850999612
|
0.00001
|
NM_198428.3(BBS9):c.2448C>T (p.Cys816=)
|
rs375606348
|
0.00001
|
NM_198428.3(BBS9):c.2472T>C (p.Arg824=)
|
rs753957320
|
0.00001
|
NM_198428.3(BBS9):c.263+13A>T
|
rs374383847
|
0.00001
|
NM_198428.3(BBS9):c.2633-10T>C
|
rs879202314
|
0.00001
|
NM_198428.3(BBS9):c.2658G>A (p.Ser886=)
|
rs748336687
|
0.00001
|
NM_198428.3(BBS9):c.312T>C (p.Cys104=)
|
rs1793992071
|
0.00001
|
NM_198428.3(BBS9):c.318C>T (p.Tyr106=)
|
rs200476774
|
0.00001
|
NM_198428.3(BBS9):c.328+16A>G
|
rs749205665
|
0.00001
|
NM_198428.3(BBS9):c.507T>C (p.Tyr169=)
|
rs376901170
|
0.00001
|
NM_198428.3(BBS9):c.519A>G (p.Arg173=)
|
rs911834235
|
0.00001
|
NM_198428.3(BBS9):c.930C>T (p.Asn310=)
|
rs140396972
|
0.00001
|
NM_198428.3(BBS9):c.954G>A (p.Val318=)
|
rs774067100
|
0.00001
|
GRCh37/hg19 7p14.3(chr7:33467039-33531339)x1
|
|
|
NM_001348041.4(BBS9):c.2656G>A (p.Glu886Lys)
|
|
|
NM_001348041.4(BBS9):c.2667C>A (p.Thr889=)
|
|
|
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
|
|
|
NM_198428.3(BBS9):c.1016+19C>T
|
|
|
NM_198428.3(BBS9):c.1016+20A>G
|
rs2128347768
|
|
NM_198428.3(BBS9):c.1016+7del
|
|
|
NM_198428.3(BBS9):c.1016+8A>G
|
|
|
NM_198428.3(BBS9):c.1016+8A>T
|
|
|
NM_198428.3(BBS9):c.1017-14C>T
|
|
|
NM_198428.3(BBS9):c.1017-4G>T
|
|
|
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
|
|
|
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
|
|
|
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
|
|
|
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
|
|
|
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
|
|
|
NM_198428.3(BBS9):c.1059C>T (p.His353=)
|
rs2128625827
|
|
NM_198428.3(BBS9):c.105T>C (p.Asn35=)
|
rs577536627
|
|
NM_198428.3(BBS9):c.1065G>A (p.Gln355=)
|
rs756380526
|
|
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
|
|
|
NM_198428.3(BBS9):c.1107A>G (p.Pro369=)
|
rs1227576006
|
|
NM_198428.3(BBS9):c.1113T>A (p.Val371=)
|
rs1584387772
|
|
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
|
|
|
NM_198428.3(BBS9):c.112+11T>G
|
rs1792345660
|
|
NM_198428.3(BBS9):c.112+18A>G
|
|
|
NM_198428.3(BBS9):c.112+19T>A
|
|
|
NM_198428.3(BBS9):c.112+21_112+22del
|
|
|
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
|
|
|
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
|
|
|
NM_198428.3(BBS9):c.113-17_113-16insG
|
|
|
NM_198428.3(BBS9):c.113-6C>T
|
rs1368410932
|
|
NM_198428.3(BBS9):c.113-8C>T
|
rs1193975738
|
|
NM_198428.3(BBS9):c.113-9T>C
|
rs1793527699
|
|
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
|
|
|
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
|
|
|
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
|
|
|
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
|
|
|
NM_198428.3(BBS9):c.1198+11T>C
|
|
|
NM_198428.3(BBS9):c.1198+12G>T
|
|
|
NM_198428.3(BBS9):c.1198+14A>T
|
|
|
NM_198428.3(BBS9):c.1198+15G>T
|
|
|
NM_198428.3(BBS9):c.1198+16C>G
|
|
|
NM_198428.3(BBS9):c.1198+9T>C
|
|
|
NM_198428.3(BBS9):c.1199-12T>C
|
|
|
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
|
|
|
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
|
|
|
NM_198428.3(BBS9):c.1230C>T (p.Asp410=)
|
|
|
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
|
|
|
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
|
|
|
NM_198428.3(BBS9):c.1275+19T>A
|
|
|
NM_198428.3(BBS9):c.1276-10G>T
|
|
|
NM_198428.3(BBS9):c.1276-15del
|
rs2128646892
|
|
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
|
|
|
NM_198428.3(BBS9):c.1302T>G (p.Thr434=)
|
rs1173516747
|
|
NM_198428.3(BBS9):c.1305C>T (p.Asp435=)
|
rs2128647066
|
|
NM_198428.3(BBS9):c.1308T>C (p.Leu436=)
|
rs886043248
|
|
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
|
|
|
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
|
|
|
NM_198428.3(BBS9):c.1329+11A>G
|
|
|
NM_198428.3(BBS9):c.1329+14T>A
|
|
|
NM_198428.3(BBS9):c.1329+9C>A
|
rs747489914
|
|
NM_198428.3(BBS9):c.1330-10G>T
|
|
|
NM_198428.3(BBS9):c.1330-17A>G
|
|
|
NM_198428.3(BBS9):c.1330-18C>A
|
rs547699537
|
|
NM_198428.3(BBS9):c.1330-18_1330-16del
|
|
|
NM_198428.3(BBS9):c.1330-19A>G
|
|
|
NM_198428.3(BBS9):c.1330-6C>T
|
|
|
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
|
|
|
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
|
|
|
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
|
|
|
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
|
|
|
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
|
|
|
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
|
|
|
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
|
|
|
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
|
|
|
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
|
|
|
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
|
|
|
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
|
|
|
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
|
|
|
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
|
|
|
NM_198428.3(BBS9):c.1432+12G>A
|
|
|
NM_198428.3(BBS9):c.1432+12G>C
|
|
|
NM_198428.3(BBS9):c.1433-12C>A
|
|
|
NM_198428.3(BBS9):c.1433-19A>T
|
|
|
NM_198428.3(BBS9):c.1433-9T>C
|
|
|
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
|
|
|
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
|
|
|
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
|
|
|
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
|
|
|
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
|
|
|
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
|
|
|
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
|
|
|
NM_198428.3(BBS9):c.1537+12G>C
|
|
|
NM_198428.3(BBS9):c.1537+13dup
|
|
|
NM_198428.3(BBS9):c.1537+20C>A
|
|
|
NM_198428.3(BBS9):c.1537+20C>T
|
|
|
NM_198428.3(BBS9):c.1537+9A>G
|
rs2128667783
|
|
NM_198428.3(BBS9):c.1538-13C>A
|
|
|
NM_198428.3(BBS9):c.1538-13C>T
|
|
|
NM_198428.3(BBS9):c.1538-17T>C
|
|
|
NM_198428.3(BBS9):c.1538-4A>G
|
|
|
NM_198428.3(BBS9):c.1552+17T>C
|
|
|
NM_198428.3(BBS9):c.1553-12C>G
|
|
|
NM_198428.3(BBS9):c.1553-14C>T
|
|
|
NM_198428.3(BBS9):c.1553-20A>C
|
|
|
NM_198428.3(BBS9):c.1553-20A>G
|
|
|
NM_198428.3(BBS9):c.1553-8T>C
|
|
|
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
|
|
|
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
|
|
|
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
|
|
|
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
|
|
|
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
|
|
|
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
|
|
|
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
|
|
|
NM_198428.3(BBS9):c.165T>C (p.His55=)
|
|
|
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
|
|
|
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
|
|
|
NM_198428.3(BBS9):c.1694-10T>C
|
|
|
NM_198428.3(BBS9):c.1694-4G>A
|
|
|
NM_198428.3(BBS9):c.1694-4G>C
|
|
|
NM_198428.3(BBS9):c.1694-6T>G
|
rs28622379
|
|
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
|
|
|
NM_198428.3(BBS9):c.1713T>C (p.Asp571=)
|
rs1584516022
|
|
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
|
|
|
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
|
|
|
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
|
|
|
NM_198428.3(BBS9):c.1743C>T (p.His581=)
|
|
|
NM_198428.3(BBS9):c.1749A>G (p.Leu583=)
|
rs1822081249
|
|
NM_198428.3(BBS9):c.1767T>C (p.Thr589=)
|
rs534722075
|
|
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
|
|
|
NM_198428.3(BBS9):c.1776T>G (p.Ala592=)
|
rs2128714393
|
|
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
|
|
|
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
|
|
|
NM_198428.3(BBS9):c.1789+12C>A
|
|
|
NM_198428.3(BBS9):c.1789+15G>C
|
|
|
NM_198428.3(BBS9):c.1790-13T>A
|
|
|
NM_198428.3(BBS9):c.1790-16A>C
|
|
|
NM_198428.3(BBS9):c.1790-17T>C
|
rs765367261
|
|
NM_198428.3(BBS9):c.1790-18T>A
|
rs2128748428
|
|
NM_198428.3(BBS9):c.1790-19C>T
|
|
|
NM_198428.3(BBS9):c.1790-20C>G
|
|
|
NM_198428.3(BBS9):c.1790-7C>A
|
|
|
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
|
|
|
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
|
|
|
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
|
|
|
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
|
|
|
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
|
|
|
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
|
|
|
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
|
|
|
NM_198428.3(BBS9):c.1875A>G (p.Glu625=)
|
rs1584588891
|
|
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
|
|
|
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
|
|
|
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
|
|
|
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
|
|
|
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
|
|
|
NM_198428.3(BBS9):c.1923C>A (p.Pro641=)
|
rs886062287
|
|
NM_198428.3(BBS9):c.195C>A (p.Ala65=)
|
rs373063776
|
|
NM_198428.3(BBS9):c.1962+11T>C
|
|
|
NM_198428.3(BBS9):c.1962+17C>T
|
|
|
NM_198428.3(BBS9):c.1962+18C>A
|
|
|
NM_198428.3(BBS9):c.1962+18C>G
|
|
|
NM_198428.3(BBS9):c.1962+9G>A
|
|
|
NM_198428.3(BBS9):c.1963-10T>C
|
|
|
NM_198428.3(BBS9):c.1963-15A>G
|
|
|
NM_198428.3(BBS9):c.1963-18A>C
|
|
|
NM_198428.3(BBS9):c.1963-4G>A
|
|
|
NM_198428.3(BBS9):c.1963-8C>A
|
|
|
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
|
|
|
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
|
|
|
NM_198428.3(BBS9):c.2016A>G (p.Gln672=)
|
rs2128756519
|
|
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
|
|
|
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
|
|
|
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
|
|
|
NM_198428.3(BBS9):c.2037G>A (p.Arg679=)
|
rs774728969
|
|
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
|
|
|
NM_198428.3(BBS9):c.2082C>T (p.His694=)
|
|
|
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
|
|
|
NM_198428.3(BBS9):c.2100T>C (p.Asp700=)
|
rs1826369751
|
|
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
|
|
|
NM_198428.3(BBS9):c.2115+12A>G
|
|
|
NM_198428.3(BBS9):c.2115+15A>C
|
|
|
NM_198428.3(BBS9):c.2115+17dup
|
rs1826376756
|
|
NM_198428.3(BBS9):c.2115+20_2115+21del
|
|
|
NM_198428.3(BBS9):c.2115+9A>G
|
|
|
NM_198428.3(BBS9):c.2116-12dup
|
|
|
NM_198428.3(BBS9):c.2116-13G>C
|
|
|
NM_198428.3(BBS9):c.2116-15T>C
|
rs1846018417
|
|
NM_198428.3(BBS9):c.2116-17G>A
|
|
|
NM_198428.3(BBS9):c.2116-20G>T
|
|
|
NM_198428.3(BBS9):c.2139G>A (p.Val713=)
|
rs1554512125
|
|
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
|
|
|
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
|
|
|
NM_198428.3(BBS9):c.2179C>T (p.Leu727=)
|
rs373177157
|
|
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
|
|
|
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
|
|
|
NM_198428.3(BBS9):c.2217G>A (p.Ala739=)
|
rs749322793
|
|
NM_198428.3(BBS9):c.2217G>T (p.Ala739=)
|
rs749322793
|
|
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
|
|
|
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
|
|
|
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
|
|
|
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
|
|
|
NM_198428.3(BBS9):c.2262G>A (p.Ala754=)
|
rs751886707
|
|
NM_198428.3(BBS9):c.2271G>C (p.Leu757=)
|
rs2129016290
|
|
NM_198428.3(BBS9):c.2277A>G (p.Leu759=)
|
rs1052268884
|
|
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
|
|
|
NM_198428.3(BBS9):c.2298+16C>T
|
|
|
NM_198428.3(BBS9):c.2298+8C>A
|
rs2129016313
|
|
NM_198428.3(BBS9):c.2299-12T>C
|
|
|
NM_198428.3(BBS9):c.2299-14G>C
|
|
|
NM_198428.3(BBS9):c.2299-19A>G
|
|
|
NM_198428.3(BBS9):c.2299-4C>G
|
|
|
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
|
|
|
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
|
|
|
NM_198428.3(BBS9):c.2337G>A (p.Leu779=)
|
rs2129059212
|
|
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
|
|
|
NM_198428.3(BBS9):c.2355G>A (p.Ser785=)
|
rs1403362656
|
|
NM_198428.3(BBS9):c.2355G>C (p.Ser785=)
|
rs1403362656
|
|
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
|
|
|
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
|
|
|
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
|
|
|
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
|
|
|
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
|
|
|
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
|
|
|
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
|
|
|
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
|
|
|
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
|
|
|
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
|
|
|
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
|
|
|
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
|
|
|
NM_198428.3(BBS9):c.2499C>T (p.Ala833=)
|
rs1163398668
|
|
NM_198428.3(BBS9):c.249A>C (p.Val83=)
|
|
|
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
|
|
|
NM_198428.3(BBS9):c.2521+11dup
|
|
|
NM_198428.3(BBS9):c.2521+16A>C
|
|
|
NM_198428.3(BBS9):c.2521+19C>G
|
|
|
NM_198428.3(BBS9):c.2521+20T>C
|
|
|
NM_198428.3(BBS9):c.2522-13A>C
|
|
|
NM_198428.3(BBS9):c.2522-15G>C
|
|
|
NM_198428.3(BBS9):c.2522-7C>A
|
|
|
NM_198428.3(BBS9):c.2522-7del
|
|
|
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
|
|
|
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
|
|
|
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
|
|
|
NM_198428.3(BBS9):c.261T>G (p.Val87=)
|
rs2128108429
|
|
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
|
|
|
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
|
|
|
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
|
|
|
NM_198428.3(BBS9):c.263+13A>G
|
|
|
NM_198428.3(BBS9):c.263+16A>G
|
|
|
NM_198428.3(BBS9):c.2632+10del
|
|
|
NM_198428.3(BBS9):c.2632+13A>T
|
|
|
NM_198428.3(BBS9):c.2632+8A>C
|
|
|
NM_198428.3(BBS9):c.2633-11T>C
|
|
|
NM_198428.3(BBS9):c.2633-16C>T
|
|
|
NM_198428.3(BBS9):c.2633-16CT[2]
|
|
|
NM_198428.3(BBS9):c.2633-5T>C
|
|
|
NM_198428.3(BBS9):c.2633-5dup
|
rs761809109
|
|
NM_198428.3(BBS9):c.2633-6T>C
|
rs2129208551
|
|
NM_198428.3(BBS9):c.264-10T>C
|
|
|
NM_198428.3(BBS9):c.264-11C>G
|
|
|
NM_198428.3(BBS9):c.264-11_264-10del
|
|
|
NM_198428.3(BBS9):c.264-12T>G
|
|
|
NM_198428.3(BBS9):c.264-14T>C
|
|
|
NM_198428.3(BBS9):c.264-14T>G
|
rs759013829
|
|
NM_198428.3(BBS9):c.264-16T>G
|
|
|
NM_198428.3(BBS9):c.264-4T>C
|
|
|
NM_198428.3(BBS9):c.2643C>T (p.Pro881=)
|
rs2129208595
|
|
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
|
|
|
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
|
|
|
NM_198428.3(BBS9):c.315C>G (p.Val105=)
|
rs1051716854
|
|
NM_198428.3(BBS9):c.321T>G (p.Ser107=)
|
rs2128114803
|
|
NM_198428.3(BBS9):c.324C>A (p.Val108=)
|
|
|
NM_198428.3(BBS9):c.328+11T>C
|
rs1793997816
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC
|
rs775674614
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
|
|
NM_198428.3(BBS9):c.328+16A>C
|
rs749205665
|
|
NM_198428.3(BBS9):c.328+16_328+27del
|
rs770155616
|
|
NM_198428.3(BBS9):c.328+20A>G
|
|
|
NM_198428.3(BBS9):c.328+5G>T
|
|
|
NM_198428.3(BBS9):c.328+7A>T
|
|
|
NM_198428.3(BBS9):c.329-13T>C
|
|
|
NM_198428.3(BBS9):c.329-19C>T
|
|
|
NM_198428.3(BBS9):c.329-19_329-17del
|
|
|
NM_198428.3(BBS9):c.329-5del
|
rs1797490601
|
|
NM_198428.3(BBS9):c.329-6C>A
|
|
|
NM_198428.3(BBS9):c.329-6C>T
|
rs1445078208
|
|
NM_198428.3(BBS9):c.329-7T>C
|
rs976567513
|
|
NM_198428.3(BBS9):c.329-8T>C
|
|
|
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
|
|
|
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
|
|
|
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
|
|
|
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
|
|
|
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
|
|
|
NM_198428.3(BBS9):c.402A>G (p.Thr134=)
|
rs2128163033
|
|
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
|
|
|
NM_198428.3(BBS9):c.438A>T (p.Val146=)
|
|
|
NM_198428.3(BBS9):c.442+16T>A
|
|
|
NM_198428.3(BBS9):c.442+19T>C
|
|
|
NM_198428.3(BBS9):c.442+7T>G
|
rs1470563544
|
|
NM_198428.3(BBS9):c.443-17C>A
|
|
|
NM_198428.3(BBS9):c.443-20T>C
|
|
|
NM_198428.3(BBS9):c.443-3T>C
|
|
|
NM_198428.3(BBS9):c.443-6_443-4del
|
|
|
NM_198428.3(BBS9):c.443-8T>C
|
|
|
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
|
|
|
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
|
|
|
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
|
|
|
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
|
|
|
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
|
|
|
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
|
|
|
NM_198428.3(BBS9):c.528T>G (p.Pro176=)
|
rs757308943
|
|
NM_198428.3(BBS9):c.531C>A (p.Gly177=)
|
rs113518488
|
|
NM_198428.3(BBS9):c.531C>T (p.Gly177=)
|
rs113518488
|
|
NM_198428.3(BBS9):c.540G>A (p.Leu180=)
|
|
|
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
|
|
|
NM_198428.3(BBS9):c.555C>G (p.Ala185=)
|
rs35440033
|
|
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
|
|
|
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
|
|
|
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
|
|
|
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
|
|
|
NM_198428.3(BBS9):c.606G>A (p.Val202=)
|
|
|
NM_198428.3(BBS9):c.615T>C (p.Tyr205=)
|
|
|
NM_198428.3(BBS9):c.617+11A>T
|
|
|
NM_198428.3(BBS9):c.617+13G>A
|
|
|
NM_198428.3(BBS9):c.617+17A>C
|
|
|
NM_198428.3(BBS9):c.617+7T>C
|
|
|
NM_198428.3(BBS9):c.618-14T>C
|
|
|
NM_198428.3(BBS9):c.618-17A>T
|
|
|
NM_198428.3(BBS9):c.618-18T>A
|
|
|
NM_198428.3(BBS9):c.618-4A>G
|
|
|
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
|
|
|
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
|
|
|
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
|
|
|
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
|
|
|
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
|
|
|
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
|
|
|
NM_198428.3(BBS9):c.699A>C (p.Leu233=)
|
rs1326295377
|
|
NM_198428.3(BBS9):c.702+10T>C
|
|
|
NM_198428.3(BBS9):c.702+13T>C
|
|
|
NM_198428.3(BBS9):c.702+15dup
|
rs756949696
|
|
NM_198428.3(BBS9):c.702+16A>G
|
|
|
NM_198428.3(BBS9):c.702+18T>C
|
|
|
NM_198428.3(BBS9):c.702+20T>C
|
rs756668480
|
|
NM_198428.3(BBS9):c.703-14G>A
|
|
|
NM_198428.3(BBS9):c.703-17T>C
|
|
|
NM_198428.3(BBS9):c.703-18T>C
|
|
|
NM_198428.3(BBS9):c.703-19A>G
|
|
|
NM_198428.3(BBS9):c.705G>A (p.Val235=)
|
|
|
NM_198428.3(BBS9):c.753C>T (p.Val251=)
|
rs2128344695
|
|
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
|
|
|
NM_198428.3(BBS9):c.786T>A (p.Val262=)
|
|
|
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
|
|
|
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
|
|
|
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
|
|
|
NM_198428.3(BBS9):c.852T>C (p.Asp284=)
|
rs2128345148
|
|
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
|
|
|
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
|
|
|
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
|
|
|
NM_198428.3(BBS9):c.886+11A>G
|
|
|
NM_198428.3(BBS9):c.886+11dup
|
rs2128345419
|
|
NM_198428.3(BBS9):c.886+12G>A
|
|
|
NM_198428.3(BBS9):c.886+12G>T
|
|
|
NM_198428.3(BBS9):c.886+17del
|
rs774382014
|
|
NM_198428.3(BBS9):c.886+19T>C
|
|
|
NM_198428.3(BBS9):c.886+7A>G
|
|
|
NM_198428.3(BBS9):c.886+7_886+8insAAA
|
rs768793235
|
|
NM_198428.3(BBS9):c.886+8G>A
|
rs745781708
|
|
NM_198428.3(BBS9):c.886+9A>G
|
|
|
NM_198428.3(BBS9):c.887-15A>C
|
|
|
NM_198428.3(BBS9):c.887-16T>C
|
|
|
NM_198428.3(BBS9):c.887-17G>A
|
|
|
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
|
|
|
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
|
|
|
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
|
|
|
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
|
|
|
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
|
|
|
NM_198428.3(BBS9):c.9A>G (p.Leu3=)
|
|
|