NM_152618.3(BBS12):c.*811C>G
|
rs309386
|
0.45540
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_152618.3(BBS12):c.-124G>A
|
rs309358
|
0.21071
|
NM_152618.3(BBS12):c.-10-41A>T
|
rs309368
|
0.21057
|
NM_152618.3(BBS12):c.*248G>A
|
rs4833843
|
0.20459
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
NM_152618.3(BBS12):c.1200G>A (p.Val400=)
|
rs309371
|
0.09713
|
NM_152618.3(BBS12):c.51A>G (p.Gln17=)
|
rs17006077
|
0.06714
|
NM_152618.3(BBS12):c.*613T>C
|
rs74451613
|
0.03678
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_152618.3(BBS12):c.-61G>C
|
rs59440868
|
0.00282
|
NM_152618.3(BBS12):c.*804A>G
|
rs151076630
|
0.00240
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_152618.3(BBS12):c.*185T>C
|
rs545226235
|
0.00069
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_152618.3(BBS12):c.-152C>G
|
rs886059056
|
0.00024
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
NM_152618.3(BBS12):c.-109G>T
|
rs886059057
|
0.00013
|
NM_152618.3(BBS12):c.*425C>T
|
rs890616532
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
|
rs144179606
|
0.00011
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
NM_152618.3(BBS12):c.-157C>T
|
rs886059055
|
0.00009
|
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
|
rs778351153
|
0.00009
|
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
|
rs376531209
|
0.00009
|
NM_152618.3(BBS12):c.1467A>G (p.Ala489=)
|
rs148850607
|
0.00009
|
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
|
rs371153231
|
0.00009
|
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)
|
rs144855583
|
0.00007
|
NM_152618.3(BBS12):c.1980G>A (p.Pro660=)
|
rs778953866
|
0.00007
|
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)
|
rs369878286
|
0.00006
|
NM_152618.3(BBS12):c.1323G>A (p.Val441=)
|
rs766332688
|
0.00006
|
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)
|
rs374865012
|
0.00006
|
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
|
rs767546051
|
0.00006
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_152618.3(BBS12):c.882T>C (p.Tyr294=)
|
rs766149148
|
0.00006
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)
|
rs149473445
|
0.00005
|
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
|
rs762558855
|
0.00005
|
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
|
rs201158536
|
0.00004
|
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
|
rs1487383886
|
0.00004
|
NM_152618.3(BBS12):c.1411G>A (p.Val471Met)
|
rs140675688
|
0.00004
|
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)
|
rs371908294
|
0.00004
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)
|
rs144843913
|
0.00004
|
NM_152618.3(BBS12):c.2094G>C (p.Gln698His)
|
rs373082306
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_152618.3(BBS12):c.21C>T (p.Val7=)
|
rs754702110
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
|
rs200240034
|
0.00004
|
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)
|
rs915644000
|
0.00004
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser)
|
rs762853916
|
0.00003
|
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
|
rs543608786
|
0.00003
|
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)
|
rs931117746
|
0.00003
|
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
|
rs777615072
|
0.00003
|
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
|
rs776216693
|
0.00002
|
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)
|
rs751515113
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)
|
rs766952842
|
0.00002
|
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
|
rs746565072
|
0.00002
|
NM_152618.3(BBS12):c.*803_*804insT
|
rs1332628916
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser)
|
rs765821625
|
0.00001
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
|
rs763765486
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg)
|
rs373652329
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
|
rs144910481
|
0.00001
|
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)
|
rs775189952
|
0.00001
|
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)
|
rs770746493
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1590A>G (p.Leu530=)
|
rs886059059
|
0.00001
|
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)
|
rs755314355
|
0.00001
|
NM_152618.3(BBS12):c.1658T>A (p.Leu553His)
|
rs753004315
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)
|
rs771057055
|
0.00001
|
NM_152618.3(BBS12):c.1884C>T (p.Asp628=)
|
rs1463043869
|
0.00001
|
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)
|
rs748009027
|
0.00001
|
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)
|
rs186713451
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.243T>C (p.Tyr81=)
|
rs772942987
|
0.00001
|
NM_152618.3(BBS12):c.382G>A (p.Val128Ile)
|
rs375439566
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.508A>G (p.Ile170Val)
|
rs1218692709
|
0.00001
|
NM_152618.3(BBS12):c.624A>G (p.Ala208=)
|
rs1423331367
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)
|
rs1179124061
|
0.00001
|
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
|
rs752533681
|
0.00001
|
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)
|
rs1183146847
|
0.00001
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_152618.3(BBS12):c.*484A>G
|
rs886059060
|
|
NM_152618.3(BBS12):c.*582G>T
|
rs182880657
|
|
NM_152618.3(BBS12):c.*828A>C
|
rs749924505
|
|
NM_152618.3(BBS12):c.*854C>A
|
rs886059061
|
|
NM_152618.3(BBS12):c.*859T>A
|
rs886059062
|
|
NM_152618.3(BBS12):c.*860G>A
|
rs1800965519
|
|
NM_152618.3(BBS12):c.*907T>C
|
rs1800966295
|
|
NM_152618.3(BBS12):c.-102C>T
|
rs1578483694
|
|
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)
|
rs1800906037
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del)
|
rs1553941372
|
|
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr)
|
rs1553941373
|
|
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
|
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)
|
rs2150736865
|
|
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter)
|
rs1560707645
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1227G>A (p.Val409=)
|
rs1800914880
|
|
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)
|
rs199596849
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
|
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
|
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1401C>T (p.Asp467=)
|
rs1578491425
|
|
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del)
|
rs1553941469
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
|
|
|
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs)
|
rs587777802
|
|
NM_152618.3(BBS12):c.1507G>A (p.Val503Met)
|
rs374865012
|
|
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
|
|
|
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser)
|
rs1560708457
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1635G>A (p.Leu545=)
|
rs1800929032
|
|
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
|
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)
|
rs1490785954
|
|
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)
|
rs746904755
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
|
rs1800931751
|
|
NM_152618.3(BBS12):c.1767A>G (p.Lys589=)
|
rs2150737724
|
|
NM_152618.3(BBS12):c.1795del (p.Leu599fs)
|
rs1553941540
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
|
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
|
|
|
NM_152618.3(BBS12):c.1917A>G (p.Glu639=)
|
rs2150737890
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)
|
rs2150737953
|
|
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
|
|
|
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
|
rs1464814059
|
|
NM_152618.3(BBS12):c.2011G>A (p.Glu671Lys)
|
|
|
NM_152618.3(BBS12):c.2019del (p.Trp673fs)
|
rs2150738027
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)
|
rs746478265
|
|
NM_152618.3(BBS12):c.2074dup (p.Thr692fs)
|
rs1553941623
|
|
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
|
|
|
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)
|
rs1578489760
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
|
rs973844350
|
|
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)
|
rs1553941223
|
|
NM_152618.3(BBS12):c.29_31del (p.Lys10del)
|
rs1553941158
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.2dup (p.Met1fs)
|
rs1560706193
|
|
NM_152618.3(BBS12):c.318T>C (p.Gly106=)
|
rs1578489832
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
NM_152618.3(BBS12):c.337_339del (p.Val113del)
|
rs587777801
|
|
NM_152618.3(BBS12):c.343_345del (p.Val115del)
|
rs1553941232
|
|
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)
|
rs2150736114
|
|
NM_152618.3(BBS12):c.400G>T (p.Val134Phe)
|
rs1467415217
|
|
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)
|
rs1553941255
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.555C>T (p.Thr185=)
|
rs1800894181
|
|
NM_152618.3(BBS12):c.568dup (p.Ser190fs)
|
rs1553941279
|
|
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
|
rs994493028
|
|
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile)
|
rs200300023
|
|
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)
|
rs1553941287
|
|
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr)
|
rs879118135
|
|
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly)
|
rs1060501473
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.683del (p.Gln228fs)
|
rs2150736424
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
|
|
|
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
|
rs758191621
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.780_781del (p.His260fs)
|
rs865920726
|
|
NM_152618.3(BBS12):c.787dup (p.Tyr263fs)
|
rs1553941312
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
|
rs774510452
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.906C>A (p.Gly302=)
|
rs557013132
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
|
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|