|
NM_031885.3(BBS2):c.-239G>A
|
rs2303284
|
0.19980
|
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
|
NM_031885.5(BBS2):c.1659+18G>A
|
rs371421381
|
0.00067
|
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
|
NM_031885.5(BBS2):c.525A>G (p.Gly175=)
|
rs34191306
|
0.00045
|
|
NM_031885.5(BBS2):c.1797+12C>T
|
rs370960689
|
0.00034
|
|
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn)
|
rs199655331
|
0.00033
|
|
NM_031885.5(BBS2):c.1238G>A (p.Arg413Gln)
|
rs141683908
|
0.00031
|
|
NM_031885.5(BBS2):c.534+20T>C
|
rs369579609
|
0.00027
|
|
NM_031885.5(BBS2):c.1623C>T (p.Gly541=)
|
rs143951580
|
0.00026
|
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
|
NM_031885.5(BBS2):c.471+17A>G
|
rs200587401
|
0.00018
|
|
NM_031885.5(BBS2):c.642C>T (p.Gly214=)
|
rs141563594
|
0.00010
|
|
NM_031885.5(BBS2):c.612+18G>A
|
rs200364314
|
0.00009
|
|
NM_031885.5(BBS2):c.870C>T (p.Ala290=)
|
rs750516217
|
0.00009
|
|
NM_031885.5(BBS2):c.117+14C>T
|
rs372785118
|
0.00008
|
|
NM_031885.5(BBS2):c.1215C>T (p.Ser405=)
|
rs768053787
|
0.00008
|
|
NM_031885.5(BBS2):c.1528-15G>T
|
rs368282063
|
0.00008
|
|
NM_031885.5(BBS2):c.1953T>C (p.Asn651=)
|
rs200621431
|
0.00007
|
|
NM_031885.5(BBS2):c.1797+13G>A
|
rs769739310
|
0.00006
|
|
NM_031885.5(BBS2):c.2128C>T (p.Leu710=)
|
rs762391617
|
0.00006
|
|
NM_031885.5(BBS2):c.534+17A>T
|
rs372085811
|
0.00006
|
|
NM_031885.5(BBS2):c.1152C>T (p.His384=)
|
rs774493134
|
0.00005
|
|
NM_031885.5(BBS2):c.1798-11A>G
|
rs374344685
|
0.00005
|
|
NM_031885.5(BBS2):c.837C>T (p.Val279=)
|
rs748579225
|
0.00005
|
|
NM_031885.5(BBS2):c.111G>A (p.Thr37=)
|
rs191867233
|
0.00004
|
|
NM_031885.5(BBS2):c.1527+13C>T
|
rs756219595
|
0.00004
|
|
NM_031885.5(BBS2):c.531A>G (p.Lys177=)
|
rs558360994
|
0.00004
|
|
NM_031885.5(BBS2):c.117+10C>T
|
rs376041093
|
0.00003
|
|
NM_031885.5(BBS2):c.1284C>T (p.His428=)
|
rs757521927
|
0.00003
|
|
NM_031885.5(BBS2):c.1527+12G>A
|
rs376715521
|
0.00003
|
|
NM_031885.5(BBS2):c.1878C>T (p.Val626=)
|
rs555264290
|
0.00003
|
|
NM_031885.5(BBS2):c.1890T>C (p.Asp630=)
|
rs1176715641
|
0.00003
|
|
NM_031885.5(BBS2):c.1950T>C (p.Leu650=)
|
rs752978565
|
0.00003
|
|
NM_031885.5(BBS2):c.2059+15A>G
|
rs571449292
|
0.00003
|
|
NM_031885.5(BBS2):c.612+17C>T
|
rs745726316
|
0.00003
|
|
NM_031885.5(BBS2):c.717+16C>A
|
rs752825833
|
0.00003
|
|
NM_031885.5(BBS2):c.1225+17A>G
|
rs1444102830
|
0.00002
|
|
NM_031885.5(BBS2):c.1456C>T (p.Leu486=)
|
rs780493609
|
0.00002
|
|
NM_031885.5(BBS2):c.1458G>A (p.Leu486=)
|
rs756379392
|
0.00002
|
|
NM_031885.5(BBS2):c.1470C>T (p.Asp490=)
|
rs370024579
|
0.00002
|
|
NM_031885.5(BBS2):c.1851T>C (p.His617=)
|
rs1259765246
|
0.00002
|
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
|
NM_031885.5(BBS2):c.2016C>G (p.Leu672=)
|
rs768160656
|
0.00002
|
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
|
NM_031885.5(BBS2):c.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
|
NM_031885.5(BBS2):c.613-12A>G
|
rs900817907
|
0.00002
|
|
NM_031885.5(BBS2):c.657T>C (p.Tyr219=)
|
rs139106996
|
0.00002
|
|
NM_031885.5(BBS2):c.819T>C (p.Ser273=)
|
rs550992948
|
0.00002
|
|
NM_031885.5(BBS2):c.91C>T (p.Leu31=)
|
rs373185970
|
0.00002
|
|
NM_031885.5(BBS2):c.941-11C>T
|
rs763441369
|
0.00002
|
|
NM_031885.5(BBS2):c.941-6G>A
|
rs746397118
|
0.00002
|
|
NM_031885.5(BBS2):c.1011G>A (p.Leu337=)
|
rs767239768
|
0.00001
|
|
NM_031885.5(BBS2):c.1020G>A (p.Glu340=)
|
rs987125306
|
0.00001
|
|
NM_031885.5(BBS2):c.1080+7G>A
|
rs1161249297
|
0.00001
|
|
NM_031885.5(BBS2):c.1092C>A (p.Ala364=)
|
rs1394766615
|
0.00001
|
|
NM_031885.5(BBS2):c.1155C>G (p.Thr385=)
|
rs749121755
|
0.00001
|
|
NM_031885.5(BBS2):c.117+17G>T
|
rs201119943
|
0.00001
|
|
NM_031885.5(BBS2):c.1209C>T (p.Arg403=)
|
rs747086491
|
0.00001
|
|
NM_031885.5(BBS2):c.1225+16C>T
|
rs774382271
|
0.00001
|
|
NM_031885.5(BBS2):c.1225+19C>T
|
rs564848200
|
0.00001
|
|
NM_031885.5(BBS2):c.1226-11C>T
|
rs371851180
|
0.00001
|
|
NM_031885.5(BBS2):c.1233C>T (p.Ile411=)
|
rs1179390065
|
0.00001
|
|
NM_031885.5(BBS2):c.1257A>G (p.Ala419=)
|
rs747607168
|
0.00001
|
|
NM_031885.5(BBS2):c.1314C>T (p.Ser438=)
|
rs1204179948
|
0.00001
|
|
NM_031885.5(BBS2):c.1323C>T (p.Ile441=)
|
rs759783261
|
0.00001
|
|
NM_031885.5(BBS2):c.1326C>T (p.Cys442=)
|
rs1478971000
|
0.00001
|
|
NM_031885.5(BBS2):c.1329C>T (p.Ile443=)
|
rs1244466598
|
0.00001
|
|
NM_031885.5(BBS2):c.1437T>C (p.Pro479=)
|
rs747415803
|
0.00001
|
|
NM_031885.5(BBS2):c.1530T>G (p.Val510=)
|
rs545597883
|
0.00001
|
|
NM_031885.5(BBS2):c.1542C>T (p.Leu514=)
|
rs374156464
|
0.00001
|
|
NM_031885.5(BBS2):c.1554T>C (p.Phe518=)
|
rs1258350117
|
0.00001
|
|
NM_031885.5(BBS2):c.1608A>G (p.Thr536=)
|
rs778892001
|
0.00001
|
|
NM_031885.5(BBS2):c.1653T>C (p.Ser551=)
|
rs1164036055
|
0.00001
|
|
NM_031885.5(BBS2):c.1659+7T>C
|
rs1964172250
|
0.00001
|
|
NM_031885.5(BBS2):c.1660-10C>T
|
rs1343645233
|
0.00001
|
|
NM_031885.5(BBS2):c.1777T>C (p.Leu593=)
|
rs767778599
|
0.00001
|
|
NM_031885.5(BBS2):c.1798-8G>T
|
rs370273510
|
0.00001
|
|
NM_031885.5(BBS2):c.1911-10A>T
|
rs747869137
|
0.00001
|
|
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=)
|
rs1044072013
|
0.00001
|
|
NM_031885.5(BBS2):c.1989C>T (p.Asn663=)
|
rs373278876
|
0.00001
|
|
NM_031885.5(BBS2):c.2059+7C>G
|
rs113740983
|
0.00001
|
|
NM_031885.5(BBS2):c.2060-5T>C
|
rs374531370
|
0.00001
|
|
NM_031885.5(BBS2):c.273C>A (p.Ala91=)
|
rs1181643265
|
0.00001
|
|
NM_031885.5(BBS2):c.30G>A (p.Leu10=)
|
rs1258834563
|
0.00001
|
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
|
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
|
rs771554929
|
0.00001
|
|
NM_031885.5(BBS2):c.42C>T (p.Ile14=)
|
rs764339260
|
0.00001
|
|
NM_031885.5(BBS2):c.483C>T (p.Asp161=)
|
rs375074141
|
0.00001
|
|
NM_031885.5(BBS2):c.534+13G>A
|
rs748319105
|
0.00001
|
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
|
NM_031885.5(BBS2):c.535-7C>T
|
rs761135398
|
0.00001
|
|
NM_031885.5(BBS2):c.558T>C (p.Phe186=)
|
rs768109068
|
0.00001
|
|
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
|
rs768647514
|
0.00001
|
|
NM_031885.5(BBS2):c.612+10T>C
|
rs113091063
|
0.00001
|
|
NM_031885.5(BBS2):c.612+14C>G
|
rs770986334
|
0.00001
|
|
NM_031885.5(BBS2):c.66G>T (p.Gly22=)
|
rs1348539618
|
0.00001
|
|
NM_031885.5(BBS2):c.717+16C>T
|
rs752825833
|
0.00001
|
|
NM_031885.5(BBS2):c.720G>A (p.Ser240=)
|
rs758715963
|
0.00001
|
|
NM_031885.5(BBS2):c.783A>C (p.Ile261=)
|
rs183982328
|
0.00001
|
|
NM_031885.5(BBS2):c.78G>A (p.Gly26=)
|
rs759629466
|
0.00001
|
|
NM_031885.5(BBS2):c.810T>C (p.Asp270=)
|
rs1309546092
|
0.00001
|
|
NM_031885.5(BBS2):c.873T>A (p.Gly291=)
|
rs1298944249
|
0.00001
|
|
NM_031885.5(BBS2):c.888T>C (p.Asp296=)
|
rs762618442
|
0.00001
|
|
NM_031885.5(BBS2):c.945G>A (p.Arg315=)
|
rs2288057
|
0.00001
|
|
NM_031885.5(BBS2):c.963G>A (p.Thr321=)
|
rs748014865
|
0.00001
|
|
NM_031885.5(BBS2):c.1008C>T (p.Asp336=)
|
rs2144148893
|
|
|
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
|
|
|
|
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
|
|
|
|
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
|
|
|
|
NM_031885.5(BBS2):c.1065T>C (p.Tyr355=)
|
rs2144148677
|
|
|
NM_031885.5(BBS2):c.1080+10G>A
|
|
|
|
NM_031885.5(BBS2):c.1080+10G>C
|
rs2144148576
|
|
|
NM_031885.5(BBS2):c.1080+11G>T
|
|
|
|
NM_031885.5(BBS2):c.1080+18T>C
|
|
|
|
NM_031885.5(BBS2):c.1080+18dup
|
|
|
|
NM_031885.5(BBS2):c.1080+8T>G
|
|
|
|
NM_031885.5(BBS2):c.1080+9A>G
|
|
|
|
NM_031885.5(BBS2):c.1081-14G>C
|
|
|
|
NM_031885.5(BBS2):c.1083T>A (p.Ala361=)
|
rs951758684
|
|
|
NM_031885.5(BBS2):c.1099C>T (p.Leu367=)
|
rs1245174214
|
|
|
NM_031885.5(BBS2):c.111G>T (p.Thr37=)
|
rs191867233
|
|
|
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
|
|
|
|
NM_031885.5(BBS2):c.1158G>A (p.Thr386=)
|
rs199944942
|
|
|
NM_031885.5(BBS2):c.1161C>G (p.Leu387=)
|
rs71387119
|
|
|
NM_031885.5(BBS2):c.1161C>T (p.Leu387=)
|
rs71387119
|
|
|
NM_031885.5(BBS2):c.1164A>G (p.Ser388=)
|
rs1425704431
|
|
|
NM_031885.5(BBS2):c.117+10C>G
|
rs376041093
|
|
|
NM_031885.5(BBS2):c.117+11C>A
|
|
|
|
NM_031885.5(BBS2):c.117+12C>T
|
|
|
|
NM_031885.5(BBS2):c.117+15C>G
|
|
|
|
NM_031885.5(BBS2):c.117+16C>G
|
|
|
|
NM_031885.5(BBS2):c.117+16C>T
|
|
|
|
NM_031885.5(BBS2):c.117+19A>C
|
|
|
|
NM_031885.5(BBS2):c.117+19A>T
|
|
|
|
NM_031885.5(BBS2):c.117+7G>A
|
rs780862523
|
|
|
NM_031885.5(BBS2):c.117+8C>G
|
rs1474535437
|
|
|
NM_031885.5(BBS2):c.117+8C>T
|
rs1474535437
|
|
|
NM_031885.5(BBS2):c.117+9T>C
|
|
|
|
NM_031885.5(BBS2):c.1171C>T (p.Leu391=)
|
|
|
|
NM_031885.5(BBS2):c.1179T>C (p.Asn393=)
|
rs2144145352
|
|
|
NM_031885.5(BBS2):c.118-13A>G
|
|
|
|
NM_031885.5(BBS2):c.118-15T>C
|
|
|
|
NM_031885.5(BBS2):c.118-16G>T
|
|
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
|
NM_031885.5(BBS2):c.118-17A>C
|
|
|
|
NM_031885.5(BBS2):c.118-8T>G
|
|
|
|
NM_031885.5(BBS2):c.1197T>C (p.His399=)
|
|
|
|
NM_031885.5(BBS2):c.1215C>A (p.Ser405=)
|
rs768053787
|
|
|
NM_031885.5(BBS2):c.1221T>C (p.Ser407=)
|
rs2144145106
|
|
|
NM_031885.5(BBS2):c.1225+10T>A
|
|
|
|
NM_031885.5(BBS2):c.1225+10T>C
|
rs1597015665
|
|
|
NM_031885.5(BBS2):c.1225+11A>G
|
|
|
|
NM_031885.5(BBS2):c.1225+12C>T
|
|
|
|
NM_031885.5(BBS2):c.1225+14C>T
|
|
|
|
NM_031885.5(BBS2):c.1226-11C>G
|
|
|
|
NM_031885.5(BBS2):c.1226-4G>A
|
|
|
|
NM_031885.5(BBS2):c.1226-5T>C
|
rs765486186
|
|
|
NM_031885.5(BBS2):c.1226-7C>T
|
rs1399847697
|
|
|
NM_031885.5(BBS2):c.1227C>T (p.Asp409=)
|
rs2144143696
|
|
|
NM_031885.5(BBS2):c.1230C>T (p.Thr410=)
|
|
|
|
NM_031885.5(BBS2):c.1242A>G (p.Ala414=)
|
|
|
|
NM_031885.5(BBS2):c.1260A>G (p.Glu420=)
|
|
|
|
NM_031885.5(BBS2):c.1272A>C (p.Thr424=)
|
rs2144143509
|
|
|
NM_031885.5(BBS2):c.1296C>T (p.Pro432=)
|
rs2144143413
|
|
|
NM_031885.5(BBS2):c.1353C>T (p.Val451=)
|
|
|
|
NM_031885.5(BBS2):c.1368C>T (p.His456=)
|
|
|
|
NM_031885.5(BBS2):c.1369T>C (p.Leu457=)
|
|
|
|
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)
|
|
|
|
NM_031885.5(BBS2):c.1397+10T>G
|
|
|
|
NM_031885.5(BBS2):c.1397+15G>A
|
|
|
|
NM_031885.5(BBS2):c.1397+7C>A
|
rs771297840
|
|
|
NM_031885.5(BBS2):c.1397+7C>T
|
|
|
|
NM_031885.5(BBS2):c.1397+9T>C
|
|
|
|
NM_031885.5(BBS2):c.1398-10T>C
|
|
|
|
NM_031885.5(BBS2):c.1398-14T>C
|
|
|
|
NM_031885.5(BBS2):c.1398-4A>G
|
|
|
|
NM_031885.5(BBS2):c.1398-5C>T
|
rs1393735395
|
|
|
NM_031885.5(BBS2):c.1398-7G>T
|
rs2144139575
|
|
|
NM_031885.5(BBS2):c.1410T>C (p.His470=)
|
rs761861062
|
|
|
NM_031885.5(BBS2):c.1413A>G (p.Val471=)
|
rs35294865
|
|
|
NM_031885.5(BBS2):c.1416T>C (p.Phe472=)
|
|
|
|
NM_031885.5(BBS2):c.1419A>G (p.Glu473=)
|
|
|
|
NM_031885.5(BBS2):c.1422G>C (p.Ser474=)
|
|
|
|
NM_031885.5(BBS2):c.1422G>T (p.Ser474=)
|
rs117033008
|
|
|
NM_031885.5(BBS2):c.1428A>G (p.Arg476=)
|
rs2144139405
|
|
|
NM_031885.5(BBS2):c.1431G>A (p.Gln477=)
|
|
|
|
NM_031885.5(BBS2):c.1437T>G (p.Pro479=)
|
rs747415803
|
|
|
NM_031885.5(BBS2):c.1440A>C (p.Arg480=)
|
rs2144139348
|
|
|
NM_031885.5(BBS2):c.1443C>T (p.Phe481=)
|
rs2144139337
|
|
|
NM_031885.5(BBS2):c.1446C>T (p.Ser482=)
|
|
|
|
NM_031885.5(BBS2):c.144G>A (p.Arg48=)
|
|
|
|
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
|
|
|
|
NM_031885.5(BBS2):c.1455G>A (p.Ala485=)
|
rs749317806
|
|
|
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
|
|
|
|
NM_031885.5(BBS2):c.147C>T (p.Asn49=)
|
|
|
|
NM_031885.5(BBS2):c.1482G>A (p.Glu494=)
|
|
|
|
NM_031885.5(BBS2):c.1485A>T (p.Pro495=)
|
|
|
|
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=)
|
rs889525343
|
|
|
NM_031885.5(BBS2):c.1500C>T (p.Asn500=)
|
rs2144139077
|
|
|
NM_031885.5(BBS2):c.1506C>A (p.Thr502=)
|
|
|
|
NM_031885.5(BBS2):c.1512A>G (p.Ala504=)
|
|
|
|
NM_031885.5(BBS2):c.1515A>G (p.Glu505=)
|
|
|
|
NM_031885.5(BBS2):c.1521A>G (p.Ala507=)
|
|
|
|
NM_031885.5(BBS2):c.1524G>A (p.Gln508=)
|
rs2144138957
|
|
|
NM_031885.5(BBS2):c.1527+11C>T
|
|
|
|
NM_031885.5(BBS2):c.1527+18C>T
|
|
|
|
NM_031885.5(BBS2):c.1527+19T>G
|
|
|
|
NM_031885.5(BBS2):c.1527+20C>G
|
|
|
|
NM_031885.5(BBS2):c.1528-16T>C
|
rs1430495735
|
|
|
NM_031885.5(BBS2):c.1528-19C>A
|
|
|
|
NM_031885.5(BBS2):c.1528-4C>G
|
|
|
|
NM_031885.5(BBS2):c.1528-4C>T
|
rs1964177299
|
|
|
NM_031885.5(BBS2):c.1528-7T>C
|
rs1597013039
|
|
|
NM_031885.5(BBS2):c.1528-9A>G
|
rs2144135110
|
|
|
NM_031885.5(BBS2):c.153T>C (p.His51=)
|
|
|
|
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
|
|
|
|
NM_031885.5(BBS2):c.1551C>T (p.Asn517=)
|
rs1306411366
|
|
|
NM_031885.5(BBS2):c.1557G>A (p.Leu519=)
|
rs925476146
|
|
|
NM_031885.5(BBS2):c.1558T>C (p.Leu520=)
|
rs2144134913
|
|
|
NM_031885.5(BBS2):c.1569C>T (p.Asp523=)
|
|
|
|
NM_031885.5(BBS2):c.156C>T (p.Val52=)
|
rs1468099662
|
|
|
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
|
|
|
|
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
|
|
|
|
NM_031885.5(BBS2):c.1626C>T (p.Gly542=)
|
|
|
|
NM_031885.5(BBS2):c.1629C>T (p.His543=)
|
rs2144134595
|
|
|
NM_031885.5(BBS2):c.162A>G (p.Ala54=)
|
rs2144193619
|
|
|
NM_031885.5(BBS2):c.1632G>T (p.Leu544=)
|
rs2144134579
|
|
|
NM_031885.5(BBS2):c.1650T>C (p.Leu550=)
|
|
|
|
NM_031885.5(BBS2):c.1659+10A>G
|
|
|
|
NM_031885.5(BBS2):c.1659+11A>C
|
|
|
|
NM_031885.5(BBS2):c.1659+17C>T
|
|
|
|
NM_031885.5(BBS2):c.165C>T (p.Ser55=)
|
rs2144193611
|
|
|
NM_031885.5(BBS2):c.1660-13_1660-11del
|
|
|
|
NM_031885.5(BBS2):c.1660-16T>C
|
|
|
|
NM_031885.5(BBS2):c.1660-17A>G
|
|
|
|
NM_031885.5(BBS2):c.1660-17_1660-16del
|
rs762198535
|
|
|
NM_031885.5(BBS2):c.1660-18T>C
|
|
|
|
NM_031885.5(BBS2):c.1660-9T>G
|
|
|
|
NM_031885.5(BBS2):c.1662C>T (p.Ile554=)
|
rs774112668
|
|
|
NM_031885.5(BBS2):c.1671T>C (p.Asn557=)
|
|
|
|
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
|
|
|
|
NM_031885.5(BBS2):c.1686T>C (p.Asp562=)
|
rs1382087682
|
|
|
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
|
|
|
|
NM_031885.5(BBS2):c.1716A>G (p.Ala572=)
|
rs2144132647
|
|
|
NM_031885.5(BBS2):c.1719A>G (p.Ser573=)
|
|
|
|
NM_031885.5(BBS2):c.1728T>C (p.Ala576=)
|
rs2144132596
|
|
|
NM_031885.5(BBS2):c.1731T>C (p.Ile577=)
|
|
|
|
NM_031885.5(BBS2):c.1746A>G (p.Val582=)
|
|
|
|
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
|
|
|
|
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
|
|
|
|
NM_031885.5(BBS2):c.1776A>G (p.Glu592=)
|
rs2144132413
|
|
|
NM_031885.5(BBS2):c.1791A>C (p.Leu597=)
|
rs2144132339
|
|
|
NM_031885.5(BBS2):c.1794T>A (p.Val598=)
|
|
|
|
NM_031885.5(BBS2):c.1797+14G>T
|
|
|
|
NM_031885.5(BBS2):c.1797+17G>A
|
|
|
|
NM_031885.5(BBS2):c.1797+7del
|
rs764642655
|
|
|
NM_031885.5(BBS2):c.1798-10T>C
|
rs1964135497
|
|
|
NM_031885.5(BBS2):c.1798-18A>G
|
|
|
|
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
|
|
|
|
NM_031885.5(BBS2):c.1806A>G (p.Glu602=)
|
rs1597011884
|
|
|
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
|
|
|
|
NM_031885.5(BBS2):c.1812T>C (p.His604=)
|
|
|
|
NM_031885.5(BBS2):c.1818G>A (p.Val606=)
|
rs1964134267
|
|
|
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
|
|
|
|
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
|
|
|
|
NM_031885.5(BBS2):c.1845T>C (p.Ala615=)
|
rs1964133464
|
|
|
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
|
|
|
|
NM_031885.5(BBS2):c.1873C>T (p.Leu625=)
|
rs2144130003
|
|
|
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
|
|
|
|
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
|
|
|
|
NM_031885.5(BBS2):c.1911-10dup
|
|
|
|
NM_031885.5(BBS2):c.1911-14A>C
|
|
|
|
NM_031885.5(BBS2):c.1911-6G>A
|
rs1000103343
|
|
|
NM_031885.5(BBS2):c.1911-8T>G
|
rs1260335822
|
|
|
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=)
|
rs1014315603
|
|
|
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
|
|
|
|
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
|
|
|
|
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=)
|
rs895581773
|
|
|
NM_031885.5(BBS2):c.1998A>G (p.Thr666=)
|
|
|
|
NM_031885.5(BBS2):c.2002C>T (p.Leu668=)
|
rs2144095506
|
|
|
NM_031885.5(BBS2):c.2005T>C (p.Leu669=)
|
|
|
|
NM_031885.5(BBS2):c.2019A>G (p.Lys673=)
|
|
|
|
NM_031885.5(BBS2):c.2025A>G (p.Val675=)
|
|
|
|
NM_031885.5(BBS2):c.2028T>C (p.Asn676=)
|
rs1449284374
|
|
|
NM_031885.5(BBS2):c.2046A>C (p.Ala682=)
|
rs2144095335
|
|
|
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
|
|
|
|
NM_031885.5(BBS2):c.2055G>A (p.Leu685=)
|
|
|
|
NM_031885.5(BBS2):c.2059+12_2059+13del
|
rs746917866
|
|
|
NM_031885.5(BBS2):c.2059+15A>T
|
rs571449292
|
|
|
NM_031885.5(BBS2):c.2059+19_2059+20insT
|
|
|
|
NM_031885.5(BBS2):c.2059+7C>T
|
|
|
|
NM_031885.5(BBS2):c.2059+8T>G
|
|
|
|
NM_031885.5(BBS2):c.2060-10T>C
|
rs2144093380
|
|
|
NM_031885.5(BBS2):c.2060-18A>T
|
|
|
|
NM_031885.5(BBS2):c.2060-4G>A
|
rs1963731219
|
|
|
NM_031885.5(BBS2):c.2060-6A>G
|
|
|
|
NM_031885.5(BBS2):c.2060-7T>C
|
|
|
|
NM_031885.5(BBS2):c.2060-8T>C
|
rs2144093365
|
|
|
NM_031885.5(BBS2):c.2060-8_2060-5del
|
rs1321033053
|
|
|
NM_031885.5(BBS2):c.2060-9C>T
|
rs2144093372
|
|
|
NM_031885.5(BBS2):c.2060-9_2060-7del
|
rs754879154
|
|
|
NM_031885.5(BBS2):c.2064A>G (p.Gly688=)
|
|
|
|
NM_031885.5(BBS2):c.2067A>G (p.Lys689=)
|
|
|
|
NM_031885.5(BBS2):c.2091T>G (p.Ala697=)
|
rs1412519720
|
|
|
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
|
|
|
|
NM_031885.5(BBS2):c.2106T>C (p.Ile702=)
|
rs1314393067
|
|
|
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
|
|
|
|
NM_031885.5(BBS2):c.2130G>A (p.Leu710=)
|
|
|
|
NM_031885.5(BBS2):c.2139C>T (p.Ile713=)
|
rs764866796
|
|
|
NM_031885.5(BBS2):c.213T>A (p.Ile71=)
|
rs2144193392
|
|
|
NM_031885.5(BBS2):c.213T>C (p.Ile71=)
|
rs2144193392
|
|
|
NM_031885.5(BBS2):c.2151G>A (p.Gly717=)
|
|
|
|
NM_031885.5(BBS2):c.2157T>G (p.Ala719=)
|
rs1380327569
|
|
|
NM_031885.5(BBS2):c.2160T>C (p.Ser720=)
|
rs2144092904
|
|
|
NM_031885.5(BBS2):c.216C>T (p.Asn72=)
|
rs375853147
|
|
|
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu)
|
|
|
|
NM_031885.5(BBS2):c.21C>T (p.Thr7=)
|
rs1311176453
|
|
|
NM_031885.5(BBS2):c.237T>A (p.Thr79=)
|
rs756639098
|
|
|
NM_031885.5(BBS2):c.240A>G (p.Ala80=)
|
|
|
|
NM_031885.5(BBS2):c.243C>A (p.Gly81=)
|
rs368760651
|
|
|
NM_031885.5(BBS2):c.243C>T (p.Gly81=)
|
|
|
|
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
|
rs1567584842
|
|
|
NM_031885.5(BBS2):c.24G>A (p.Leu8=)
|
|
|
|
NM_031885.5(BBS2):c.258G>A (p.Glu86=)
|
|
|
|
NM_031885.5(BBS2):c.267T>C (p.Tyr89=)
|
rs2144193050
|
|
|
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
|
|
|
|
NM_031885.5(BBS2):c.277T>C (p.Leu93=)
|
|
|
|
NM_031885.5(BBS2):c.27A>G (p.Lys9=)
|
|
|
|
NM_031885.5(BBS2):c.285G>A (p.Gly95=)
|
rs752531652
|
|
|
NM_031885.5(BBS2):c.288A>G (p.Thr96=)
|
rs2144192963
|
|
|
NM_031885.5(BBS2):c.28C>T (p.Leu10=)
|
|
|
|
NM_031885.5(BBS2):c.291G>A (p.Gln97=)
|
|
|
|
NM_031885.5(BBS2):c.297T>C (p.Asn99=)
|
rs2144192928
|
|
|
NM_031885.5(BBS2):c.306T>C (p.Ala102=)
|
|
|
|
NM_031885.5(BBS2):c.312T>C (p.Asp104=)
|
|
|
|
NM_031885.5(BBS2):c.315C>G (p.Val105=)
|
|
|
|
NM_031885.5(BBS2):c.318C>T (p.Tyr106=)
|
|
|
|
NM_031885.5(BBS2):c.339C>T (p.Tyr113=)
|
|
|
|
NM_031885.5(BBS2):c.342A>G (p.Arg114=)
|
rs2144192731
|
|
|
NM_031885.5(BBS2):c.345+10A>G
|
rs770249850
|
|
|
NM_031885.5(BBS2):c.345+11C>T
|
|
|
|
NM_031885.5(BBS2):c.345+12C>T
|
rs2144192648
|
|
|
NM_031885.5(BBS2):c.345+15del
|
|
|
|
NM_031885.5(BBS2):c.345+16A>G
|
|
|
|
NM_031885.5(BBS2):c.345+17T>C
|
|
|
|
NM_031885.5(BBS2):c.345+8T>C
|
|
|
|
NM_031885.5(BBS2):c.346-11A>G
|
|
|
|
NM_031885.5(BBS2):c.346-12T>A
|
|
|
|
NM_031885.5(BBS2):c.346-20T>C
|
|
|
|
NM_031885.5(BBS2):c.346-5C>T
|
|
|
|
NM_031885.5(BBS2):c.357G>T (p.Gly119=)
|
|
|
|
NM_031885.5(BBS2):c.366A>C (p.Ala122=)
|
rs1191119235
|
|
|
NM_031885.5(BBS2):c.381A>G (p.Thr127=)
|
|
|
|
NM_031885.5(BBS2):c.399C>A (p.Ser133=)
|
|
|
|
NM_031885.5(BBS2):c.399C>T (p.Ser133=)
|
|
|
|
NM_031885.5(BBS2):c.405T>C (p.Leu135=)
|
|
|
|
NM_031885.5(BBS2):c.405T>G (p.Leu135=)
|
rs2144181808
|
|
|
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
|
|
|
|
NM_031885.5(BBS2):c.429T>C (p.Ala143=)
|
rs2144181653
|
|
|
NM_031885.5(BBS2):c.432G>T (p.Leu144=)
|
rs2144181642
|
|
|
NM_031885.5(BBS2):c.441C>T (p.Phe147=)
|
rs2144181587
|
|
|
NM_031885.5(BBS2):c.453A>G (p.Gly151=)
|
rs144460758
|
|
|
NM_031885.5(BBS2):c.45C>T (p.Ser15=)
|
rs1354385806
|
|
|
NM_031885.5(BBS2):c.462C>A (p.Leu154=)
|
|
|
|
NM_031885.5(BBS2):c.471+10A>C
|
rs1342804095
|
|
|
NM_031885.5(BBS2):c.471+12A>G
|
|
|
|
NM_031885.5(BBS2):c.471+14A>C
|
|
|
|
NM_031885.5(BBS2):c.472-18T>C
|
|
|
|
NM_031885.5(BBS2):c.472-6T>C
|
rs2144180463
|
|
|
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
|
|
|
|
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
|
|
|
|
NM_031885.5(BBS2):c.501C>G (p.Ala167=)
|
rs1398338388
|
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NM_031885.5(BBS2):c.501C>T (p.Ala167=)
|
rs1398338388
|
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NM_031885.5(BBS2):c.516T>C (p.Asp172=)
|
rs1387025266
|
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NM_031885.5(BBS2):c.519T>C (p.Gly173=)
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NM_031885.5(BBS2):c.51A>T (p.Arg17=)
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NM_031885.5(BBS2):c.522T>C (p.Asp174=)
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NM_031885.5(BBS2):c.528G>A (p.Lys176=)
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NM_031885.5(BBS2):c.534+10G>A
|
rs1207740034
|
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NM_031885.5(BBS2):c.534+11G>T
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NM_031885.5(BBS2):c.534+17A>G
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NM_031885.5(BBS2):c.534+18T>C
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NM_031885.5(BBS2):c.534+19A>C
|
rs930327101
|
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NM_031885.5(BBS2):c.534+19A>G
|
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NM_031885.5(BBS2):c.534+7G>T
|
rs886052149
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NM_031885.5(BBS2):c.534+9G>A
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NM_031885.5(BBS2):c.534+9G>T
|
rs2144180024
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NM_031885.5(BBS2):c.535-16_535-14del
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NM_031885.5(BBS2):c.535-18A>G
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NM_031885.5(BBS2):c.535-20G>C
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NM_031885.5(BBS2):c.535-6C>T
|
rs2144177148
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NM_031885.5(BBS2):c.535-6del
|
rs1237158483
|
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NM_031885.5(BBS2):c.535-8C>T
|
rs2144177202
|
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NM_031885.5(BBS2):c.535-9C>T
|
rs2144177223
|
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NM_031885.5(BBS2):c.537T>A (p.Leu179=)
|
rs1450648224
|
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NM_031885.5(BBS2):c.564C>A (p.Ile188=)
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NM_031885.5(BBS2):c.564C>T (p.Ile188=)
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NM_031885.5(BBS2):c.573T>C (p.Phe191=)
|
rs2144176995
|
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NM_031885.5(BBS2):c.57G>A (p.Val19=)
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NM_031885.5(BBS2):c.588T>C (p.Ile196=)
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NM_031885.5(BBS2):c.60C>T (p.Ala20=)
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NM_031885.5(BBS2):c.612+14C>T
|
rs770986334
|
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NM_031885.5(BBS2):c.612+16T>A
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NM_031885.5(BBS2):c.612+17C>G
|
rs745726316
|
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NM_031885.5(BBS2):c.612+18G>T
|
rs200364314
|
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NM_031885.5(BBS2):c.612+7A>G
|
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NM_031885.5(BBS2):c.613-11T>C
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NM_031885.5(BBS2):c.615A>T (p.Ile205=)
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NM_031885.5(BBS2):c.618C>T (p.Val206=)
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NM_031885.5(BBS2):c.621C>T (p.Thr207=)
|
rs1481865252
|
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NM_031885.5(BBS2):c.627T>C (p.Leu209=)
|
rs752010652
|
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NM_031885.5(BBS2):c.633C>G (p.Pro211=)
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NM_031885.5(BBS2):c.633C>T (p.Pro211=)
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NM_031885.5(BBS2):c.654T>C (p.Gly218=)
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|
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
|
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|
|
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
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NM_031885.5(BBS2):c.672C>G (p.Gly224=)
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|
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
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|
NM_031885.5(BBS2):c.675A>C (p.Thr225=)
|
rs2144162957
|
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|
NM_031885.5(BBS2):c.681A>G (p.Gly227=)
|
rs2144162940
|
|
|
NM_031885.5(BBS2):c.684T>A (p.Val228=)
|
rs2144162919
|
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NM_031885.5(BBS2):c.69C>T (p.Arg23=)
|
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NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
|
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|
NM_031885.5(BBS2):c.711A>G (p.Arg237=)
|
rs2144162775
|
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NM_031885.5(BBS2):c.717+17C>T
|
|
|
|
NM_031885.5(BBS2):c.717+7A>G
|
rs2144162735
|
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|
NM_031885.5(BBS2):c.718-10T>C
|
rs2144162525
|
|
|
NM_031885.5(BBS2):c.718-19T>G
|
|
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|
NM_031885.5(BBS2):c.718-4T>G
|
rs1265021801
|
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|
NM_031885.5(BBS2):c.718-9C>A
|
rs2144162512
|
|
|
NM_031885.5(BBS2):c.723A>G (p.Lys241=)
|
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|
NM_031885.5(BBS2):c.726T>C (p.Asn242=)
|
rs1481166462
|
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|
NM_031885.5(BBS2):c.750T>C (p.Phe250=)
|
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|
|
NM_031885.5(BBS2):c.75C>T (p.Asp25=)
|
rs1964868134
|
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|
NM_031885.5(BBS2):c.768A>C (p.Gly256=)
|
rs2144162236
|
|
|
NM_031885.5(BBS2):c.780G>A (p.Leu260=)
|
|
|
|
NM_031885.5(BBS2):c.780G>C (p.Leu260=)
|
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|
|
NM_031885.5(BBS2):c.786T>G (p.Thr262=)
|
|
|
|
NM_031885.5(BBS2):c.795C>T (p.Ser265=)
|
rs1172637602
|
|
|
NM_031885.5(BBS2):c.801G>A (p.Gly267=)
|
|
|
|
NM_031885.5(BBS2):c.801G>T (p.Gly267=)
|
|
|
|
NM_031885.5(BBS2):c.804+15C>G
|
|
|
|
NM_031885.5(BBS2):c.804+17A>G
|
|
|
|
NM_031885.5(BBS2):c.804+7T>G
|
rs2144162020
|
|
|
NM_031885.5(BBS2):c.805-10T>A
|
|
|
|
NM_031885.5(BBS2):c.805-10T>G
|
rs2144150878
|
|
|
NM_031885.5(BBS2):c.805-15G>A
|
|
|
|
NM_031885.5(BBS2):c.807T>C (p.Val269=)
|
rs2144150832
|
|
|
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
|
|
|
|
NM_031885.5(BBS2):c.816A>G (p.Arg272=)
|
rs1471030773
|
|
|
NM_031885.5(BBS2):c.822C>T (p.Asp274=)
|
rs2144150744
|
|
|
NM_031885.5(BBS2):c.823C>A (p.Arg275=)
|
|
|
|
NM_031885.5(BBS2):c.840C>T (p.Ile280=)
|
rs1207765703
|
|
|
NM_031885.5(BBS2):c.861T>C (p.Ser287=)
|
|
|
|
NM_031885.5(BBS2):c.864A>C (p.Ala288=)
|
rs1340236108
|
|
|
NM_031885.5(BBS2):c.87G>A (p.Pro29=)
|
rs2144214387
|
|
|
NM_031885.5(BBS2):c.882G>A (p.Glu294=)
|
rs2144150392
|
|
|
NM_031885.5(BBS2):c.912G>A (p.Gln304=)
|
rs2144150234
|
|
|
NM_031885.5(BBS2):c.940+18A>G
|
|
|
|
NM_031885.5(BBS2):c.940+20A>G
|
|
|
|
NM_031885.5(BBS2):c.941-10T>C
|
|
|
|
NM_031885.5(BBS2):c.941-19G>A
|
|
|
|
NM_031885.5(BBS2):c.941-20G>T
|
|
|
|
NM_031885.5(BBS2):c.941-4del
|
rs1964302734
|
|
|
NM_031885.5(BBS2):c.941-6G>T
|
|
|
|
NM_031885.5(BBS2):c.941-8C>G
|
rs373354290
|
|
|
NM_031885.5(BBS2):c.941-8C>T
|
rs373354290
|
|
|
NM_031885.5(BBS2):c.960C>G (p.Gly320=)
|
rs369415186
|
|
|
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
|
|
|
|
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
|
|
|
|
NM_031885.5(BBS2):c.975G>A (p.Arg325=)
|
rs1276623881
|
|
|
NM_031885.5(BBS2):c.984C>T (p.Leu328=)
|
rs1285508370
|
|
|
NM_031885.5(BBS2):c.990C>T (p.Asp330=)
|
rs2144148961
|
|
|
NM_031885.5(BBS2):c.993C>T (p.Thr331=)
|
rs1964300336
|
|
|
NM_031885.5(BBS2):c.999A>T (p.Ala333=)
|
rs1964300041
|
|
|
NM_031885.5(BBS2):c.99C>G (p.Ala33=)
|
|
|
|
NM_031885.5(BBS2):c.9G>T (p.Leu3=)
|
|
|