NM_033028.5(BBS4):c.*611C>T
|
rs41277724
|
0.00586
|
NM_033028.5(BBS4):c.*737T>C
|
rs572076143
|
0.00176
|
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)
|
rs151164191
|
0.00134
|
NM_033028.5(BBS4):c.*157C>G
|
rs149263274
|
0.00108
|
NM_033028.5(BBS4):c.*200C>T
|
rs191015723
|
0.00083
|
NM_033028.5(BBS4):c.-14T>A
|
rs146238636
|
0.00073
|
NM_033028.5(BBS4):c.514A>G (p.Ile172Val)
|
rs145265395
|
0.00063
|
NM_033028.5(BBS4):c.*36G>A
|
rs376830638
|
0.00050
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_033028.5(BBS4):c.*498T>C
|
rs187276976
|
0.00029
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
NM_033028.5(BBS4):c.*65G>A
|
rs576340233
|
0.00027
|
NM_033028.5(BBS4):c.864G>A (p.Ala288=)
|
rs141345544
|
0.00022
|
NM_033028.5(BBS4):c.*783A>G
|
rs775532255
|
0.00020
|
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
|
rs760909426
|
0.00020
|
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)
|
rs148843256
|
0.00019
|
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)
|
rs148682268
|
0.00017
|
NM_033028.5(BBS4):c.1036+6A>G
|
rs374383864
|
0.00016
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
NM_033028.5(BBS4):c.*770C>T
|
rs777872738
|
0.00014
|
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)
|
rs727503820
|
0.00013
|
NM_033028.5(BBS4):c.24+6C>T
|
rs1427489194
|
0.00012
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
|
rs144696430
|
0.00009
|
NM_033028.5(BBS4):c.405+7A>G
|
rs778651927
|
0.00007
|
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
|
rs749282837
|
0.00006
|
NM_033028.5(BBS4):c.1107-7G>A
|
rs766664389
|
0.00006
|
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)
|
rs375558008
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
NM_033028.5(BBS4):c.*885T>C
|
rs753912948
|
0.00005
|
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu)
|
rs1021016026
|
0.00004
|
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)
|
rs149577332
|
0.00004
|
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)
|
rs143607861
|
0.00004
|
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)
|
rs370963556
|
0.00004
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
NM_033028.5(BBS4):c.405+6T>C
|
rs926942882
|
0.00004
|
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
|
rs201987100
|
0.00004
|
NM_033028.5(BBS4):c.*149C>A
|
rs578051922
|
0.00003
|
NM_033028.5(BBS4):c.*855_*856del
|
rs748809330
|
0.00003
|
NM_033028.5(BBS4):c.-3A>G
|
rs771900208
|
0.00003
|
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
|
rs969384648
|
0.00003
|
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
|
rs751716258
|
0.00003
|
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala)
|
rs760115702
|
0.00003
|
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)
|
rs746070171
|
0.00003
|
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys)
|
rs201651412
|
0.00003
|
NM_033028.5(BBS4):c.233G>A (p.Arg78His)
|
rs200396355
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033028.5(BBS4):c.975T>A (p.His325Gln)
|
rs769873362
|
0.00003
|
NM_033028.4(BBS4):c.-44G>C
|
rs886051465
|
0.00002
|
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val)
|
rs760324204
|
0.00002
|
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
|
rs754792792
|
0.00002
|
NM_033028.5(BBS4):c.153C>T (p.Cys51=)
|
rs754709708
|
0.00002
|
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
|
rs758120829
|
0.00002
|
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)
|
rs761814377
|
0.00002
|
NM_033028.5(BBS4):c.332+5G>A
|
rs758789705
|
0.00002
|
NM_033028.5(BBS4):c.333-3C>T
|
rs369781535
|
0.00002
|
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)
|
rs775034843
|
0.00002
|
NM_033028.5(BBS4):c.*581T>A
|
rs936319236
|
0.00001
|
NM_033028.5(BBS4):c.*643A>C
|
rs886051469
|
0.00001
|
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
|
rs1000977139
|
0.00001
|
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)
|
rs560253658
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
|
rs773893992
|
0.00001
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)
|
rs780560947
|
0.00001
|
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)
|
rs569462424
|
0.00001
|
NM_033028.5(BBS4):c.1248+5G>A
|
rs756449572
|
0.00001
|
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)
|
rs914591602
|
0.00001
|
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)
|
rs767070801
|
0.00001
|
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)
|
rs775122250
|
0.00001
|
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp)
|
rs754157578
|
0.00001
|
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
|
rs765715632
|
0.00001
|
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln)
|
rs201230357
|
0.00001
|
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)
|
rs749034070
|
0.00001
|
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
|
rs1050164962
|
0.00001
|
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)
|
rs1214182249
|
0.00001
|
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr)
|
rs760480986
|
0.00001
|
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)
|
rs1307094685
|
0.00001
|
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
|
rs369958857
|
0.00001
|
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg)
|
rs916245903
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.214G>A (p.Val72Ile)
|
rs749578199
|
0.00001
|
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys)
|
rs145168232
|
0.00001
|
NM_033028.5(BBS4):c.23C>T (p.Thr8Met)
|
rs769894375
|
0.00001
|
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
|
rs2065449512
|
0.00001
|
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn)
|
rs766485888
|
0.00001
|
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)
|
rs1040144478
|
0.00001
|
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
|
rs530223854
|
0.00001
|
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
|
rs756744863
|
0.00001
|
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu)
|
rs1177848403
|
0.00001
|
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu)
|
rs751076253
|
0.00001
|
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser)
|
rs371598044
|
0.00001
|
NM_033028.5(BBS4):c.5C>T (p.Ala2Val)
|
rs923399180
|
0.00001
|
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)
|
rs916749492
|
0.00001
|
NM_033028.5(BBS4):c.63C>T (p.Pro21=)
|
rs267604309
|
0.00001
|
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)
|
rs775955872
|
0.00001
|
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
|
rs35132058
|
0.00001
|
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)
|
rs569388336
|
0.00001
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)
|
rs532770420
|
0.00001
|
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
|
rs748048479
|
0.00001
|
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn)
|
rs12373005
|
0.00001
|
NM_033028.5(BBS4):c.863C>T (p.Ala288Val)
|
rs772051835
|
0.00001
|
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln)
|
rs121434632
|
0.00001
|
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
|
rs199831925
|
0.00001
|
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
|
rs1178593849
|
0.00001
|
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)
|
rs774619624
|
0.00001
|
NC_000015.10:g.(?_72676034)_(72704515_?)dup
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)dup
|
|
|
NM_033028.5(BBS4):c.*159A>G
|
rs2065955405
|
|
NM_033028.5(BBS4):c.*1_*2delGA
|
|
|
NM_033028.5(BBS4):c.*1_*3delGAA
|
|
|
NM_033028.5(BBS4):c.*883C>T
|
rs886051470
|
|
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
|
rs750983167
|
|
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile)
|
rs758032659
|
|
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
|
|
|
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
|
|
|
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)
|
rs1478448702
|
|
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr)
|
rs367767132
|
|
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)
|
rs1336636537
|
|
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
|
|
|
NM_033028.5(BBS4):c.1107-10_1107-7del
|
rs770577174
|
|
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys)
|
rs766266805
|
|
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
|
|
|
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
|
rs759315856
|
|
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
|
|
|
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
|
|
|
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
|
|
|
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del)
|
rs1414925501
|
|
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
|
rs1295583634
|
|
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
|
|
|
NM_033028.5(BBS4):c.1248+4T>C
|
rs2065914727
|
|
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)
|
rs914591602
|
|
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
|
|
|
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
|
|
|
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly)
|
rs767070801
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly)
|
rs2151057022
|
|
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
|
rs753145823
|
|
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
|
|
|
NM_033028.5(BBS4):c.1340A>C (p.His447Pro)
|
rs1419223053
|
|
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
|
rs773209808
|
|
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)
|
rs766535822
|
|
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
|
|
|
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)
|
rs776847398
|
|
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
|
|
|
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
|
|
|
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu)
|
rs2065937102
|
|
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu)
|
rs2277596
|
|
NM_033028.5(BBS4):c.1450+2_1450+5del
|
rs1287237832
|
|
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser)
|
rs2065938048
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
|
|
|
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg)
|
rs2151058260
|
|
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
|
|
|
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)
|
rs886051468
|
|
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
|
|
|
NM_033028.5(BBS4):c.1493del (p.Pro498fs)
|
rs777455492
|
|
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
|
|
|
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
|
|
|
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val)
|
rs1278438729
|
|
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly)
|
rs2065950720
|
|
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
|
|
|
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)
|
rs1463405501
|
|
NM_033028.5(BBS4):c.156+4A>G
|
|
|
NM_033028.5(BBS4):c.157-20C>T
|
rs2151019478
|
|
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
|
|
|
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
|
|
|
NM_033028.5(BBS4):c.220+3A>G
|
|
|
NM_033028.5(BBS4):c.220+3A>T
|
rs376143305
|
|
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
|
|
|
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp)
|
rs745338483
|
|
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
|
rs1567415169
|
|
NM_033028.5(BBS4):c.252A>T (p.Gln84His)
|
rs2065448650
|
|
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
|
|
|
NM_033028.5(BBS4):c.276A>G (p.Thr92=)
|
rs2151023356
|
|
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg)
|
rs139038321
|
|
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
|
|
|
NM_033028.5(BBS4):c.332+2dup
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rs753360929
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NM_033028.5(BBS4):c.333-13A>G
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NM_033028.5(BBS4):c.349C>T (p.His117Tyr)
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rs765399591
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NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
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NM_033028.5(BBS4):c.403T>A (p.Trp135Arg)
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rs768304898
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NM_033028.5(BBS4):c.428T>A (p.Val143Asp)
|
rs2065601390
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NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
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NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
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NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
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rs781691906
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NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
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NM_033028.5(BBS4):c.460-15T>A
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NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
|
rs147391634
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NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
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NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
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rs769766779
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NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
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NM_033028.5(BBS4):c.530T>G (p.Ile177Ser)
|
rs1341828921
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NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)
|
rs751216768
|
|
NM_033028.5(BBS4):c.562A>G (p.Ile188Val)
|
rs2151034404
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NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
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NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
|
rs756915341
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NM_033028.5(BBS4):c.587+1G>A
|
rs886051466
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NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
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NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
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NM_033028.5(BBS4):c.619A>G (p.Thr207Ala)
|
rs558382374
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NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
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NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)
|
rs1567426035
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NM_033028.5(BBS4):c.683C>T (p.Ala228Val)
|
rs2151043996
|
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NM_033028.5(BBS4):c.701C>A (p.Thr234Asn)
|
rs2151044050
|
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NM_033028.5(BBS4):c.740A>G (p.Gln247Arg)
|
rs746471801
|
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NM_033028.5(BBS4):c.75dup (p.Ala26fs)
|
rs1567398832
|
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NM_033028.5(BBS4):c.76+3del
|
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NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
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NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
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NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe)
|
rs146595193
|
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NM_033028.5(BBS4):c.77C>T (p.Ala26Val)
|
rs2151016128
|
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NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
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NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
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NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
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NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
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|
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NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
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NM_033028.5(BBS4):c.865-3T>C
|
|
|
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
|
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NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
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NM_033028.5(BBS4):c.956A>G (p.Gln319Arg)
|
rs1595948085
|
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NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
|
|
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NM_033028.5(BBS4):c.988G>A (p.Ala330Thr)
|
rs2065827621
|
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NM_033028.5(BBS4):c.991A>G (p.Ile331Val)
|
rs1316841175
|
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NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
|
|
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NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
|
rs2065827783
|
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NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
|
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