NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_176824.3(BBS7):c.-133C>G
|
rs2271176
|
0.31261
|
NM_176824.3(BBS7):c.*419T>A
|
rs3762840
|
0.29292
|
NM_176824.3(BBS7):c.*690T>C
|
rs3217753
|
0.26976
|
NM_176824.3(BBS7):c.*1286G>A
|
rs1507996
|
0.21106
|
NM_176824.3(BBS7):c.*1202G>A
|
rs3217756
|
0.00843
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_176824.3(BBS7):c.*250T>G
|
rs80171619
|
0.00193
|
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)
|
rs111442398
|
0.00154
|
NM_176824.3(BBS7):c.*353G>A
|
rs570995801
|
0.00100
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_176824.3(BBS7):c.*1526C>T
|
rs546122158
|
0.00041
|
NM_176824.3(BBS7):c.165+16T>C
|
rs371497491
|
0.00034
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)
|
rs200373010
|
0.00020
|
NM_176824.3(BBS7):c.*1324G>A
|
rs181687808
|
0.00018
|
NM_176824.3(BBS7):c.*513C>T
|
rs577071672
|
0.00016
|
NM_176824.3(BBS7):c.*709G>C
|
rs886059050
|
0.00016
|
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
|
rs202102193
|
0.00016
|
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
|
rs375084239
|
0.00011
|
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
|
rs370656021
|
0.00011
|
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
|
rs373378747
|
0.00011
|
NM_176824.3(BBS7):c.1511+19C>A
|
rs201524145
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_176824.3(BBS7):c.*724C>T
|
rs1025886041
|
0.00009
|
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
|
rs141224967
|
0.00009
|
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)
|
rs747055521
|
0.00009
|
NM_176824.3(BBS7):c.*1139T>C
|
rs542533305
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_176824.3(BBS7):c.*932T>G
|
rs3217755
|
0.00007
|
NM_176824.3(BBS7):c.1231-16T>C
|
rs781657811
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_176824.3(BBS7):c.683G>A (p.Arg228His)
|
rs369866009
|
0.00006
|
NM_176824.3(BBS7):c.1511+9A>G
|
rs192602290
|
0.00005
|
NM_176824.3(BBS7):c.*605G>A
|
rs886059051
|
0.00004
|
NM_176824.3(BBS7):c.1806C>G (p.Val602=)
|
rs752970955
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00004
|
NM_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)
|
rs1221499782
|
0.00003
|
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)
|
rs768987725
|
0.00003
|
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)
|
rs771957843
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)
|
rs201096775
|
0.00003
|
NM_176824.3(BBS7):c.-19G>C
|
rs757523715
|
0.00002
|
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)
|
rs758567781
|
0.00002
|
NM_176824.3(BBS7):c.1305+13A>G
|
rs773872987
|
0.00002
|
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)
|
rs372685495
|
0.00002
|
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)
|
rs747889031
|
0.00002
|
NM_176824.3(BBS7):c.1755A>G (p.Thr585=)
|
rs1725022392
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_176824.3(BBS7):c.*1361A>T
|
rs544492413
|
0.00001
|
NM_176824.3(BBS7):c.*996T>C
|
rs886059049
|
0.00001
|
NM_176824.3(BBS7):c.-137A>G
|
rs1727529496
|
0.00001
|
NM_176824.3(BBS7):c.1038-16A>G
|
rs201278442
|
0.00001
|
NM_176824.3(BBS7):c.1056G>A (p.Leu352=)
|
rs377163503
|
0.00001
|
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)
|
rs906692940
|
0.00001
|
NM_176824.3(BBS7):c.1306-5C>T
|
rs1475632900
|
0.00001
|
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
|
rs776931328
|
0.00001
|
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr)
|
rs886059053
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
|
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
|
rs200788672
|
0.00001
|
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
|
rs746759579
|
0.00001
|
NM_176824.3(BBS7):c.1676+7C>G
|
rs1247015446
|
0.00001
|
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)
|
rs751029709
|
0.00001
|
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)
|
rs773771144
|
0.00001
|
NM_176824.3(BBS7):c.1960G>C (p.Asp654His)
|
rs143632090
|
0.00001
|
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)
|
rs1044486579
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
|
rs1342336710
|
0.00001
|
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)
|
rs1013002037
|
0.00001
|
NM_176824.3(BBS7):c.2136C>T (p.Phe712=)
|
rs199782217
|
0.00001
|
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)
|
rs775395171
|
0.00001
|
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
|
rs138270119
|
0.00001
|
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)
|
rs1226167451
|
0.00001
|
NM_176824.3(BBS7):c.650C>T (p.Ala217Val)
|
rs370510563
|
0.00001
|
NM_176824.3(BBS7):c.651G>A (p.Ala217=)
|
rs750691939
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_176824.3(BBS7):c.849+1G>C
|
rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)
|
rs1488474028
|
0.00001
|
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)
|
rs778714139
|
0.00001
|
NM_176824.3(BBS7):c.*1161A>G
|
rs918127402
|
|
NM_176824.3(BBS7):c.*273T>C
|
rs190252263
|
|
NM_176824.3(BBS7):c.*304A>C
|
rs886059052
|
|
NM_176824.3(BBS7):c.*828A>G
|
rs879827169
|
|
NM_176824.3(BBS7):c.-98C>T
|
rs546649349
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)
|
rs1726067918
|
|
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
|
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
|
|
|
NM_176824.3(BBS7):c.1158A>T (p.Thr386=)
|
rs146617227
|
|
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
|
|
|
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
|
|
|
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)
|
rs542274936
|
|
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
|
|
|
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
|
rs1725961307
|
|
NM_176824.3(BBS7):c.1231-15dup
|
rs747444432
|
|
NM_176824.3(BBS7):c.12_35dup (p.Leu11_Gln12insHisLeuAsnArgMetAspTyrLeu)
|
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr)
|
rs2149061880
|
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
|
NM_176824.3(BBS7):c.1372-19C>G
|
rs1725398365
|
|
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
|
|
|
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
|
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
|
rs1725388372
|
|
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
|
rs1560643809
|
|
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)
|
rs763160690
|
|
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
|
|
|
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
|
|
|
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
|
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
|
rs1725011147
|
|
NM_176824.3(BBS7):c.1890+15C>T
|
rs761350391
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
|
|
|
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
|
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)
|
rs757308523
|
|
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)
|
rs1229720963
|
|
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
|
|
|
NM_176824.3(BBS7):c.22A>T (p.Met8Leu)
|
rs757370927
|
|
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
|
rs1050167281
|
|
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
|
|
|
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
|
|
|
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
|
rs760863058
|
|
NM_176824.3(BBS7):c.328del (p.Ser110fs)
|
|
|
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
|
rs1726975256
|
|
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
|
rs142305911
|
|
NM_176824.3(BBS7):c.340A>G (p.Met114Val)
|
rs142305911
|
|
NM_176824.3(BBS7):c.341+2T>C
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
|
|
|
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser)
|
rs370690441
|
|
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
|
rs1341540567
|
|
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
|
|
|
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer)
|
rs1578564877
|
|
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
|
|
|
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)
|
rs2149084783
|
|
NM_176824.3(BBS7):c.587A>G (p.His196Arg)
|
rs886059054
|
|
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
|
|
|
NM_176824.3(BBS7):c.600C>A (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)
|
|
|
NM_176824.3(BBS7):c.649dup (p.Ala217fs)
|
rs886044668
|
|
NM_176824.3(BBS7):c.709_712del (p.Lys237fs)
|
rs587777812
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_176824.3(BBS7):c.718+1G>C
|
|
|
NM_176824.3(BBS7):c.719-2A>G
|
|
|
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
|
|
|
NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
|
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
|
|
|
NM_176824.3(BBS7):c.849+1G>A
|
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
|
rs1726157542
|
|
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
|
rs1726155956
|
|
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
|
|
|
NM_176824.3(BBS7):c.934+17T>C
|
rs1165897878
|
|
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)
|
rs869025207
|
|
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
|
|
|