ClinVar Miner

List of variants in gene BBS2 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 904
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.209= (p.Ser70=) rs4784677 0.00466
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
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.2079G>A (p.Gln693=) rs150797250 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.358G>A (p.Ala120Thr) rs148808295 0.00030
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.1080+14C>T rs375468475 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 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.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031885.5(BBS2):c.1786G>A (p.Val596Met) rs375828912 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
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.722A>C (p.Lys241Thr) rs199918247 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.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_031885.5(BBS2):c.970A>T (p.Met324Leu) rs778551017 0.00005
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1527+13C>T rs756219595 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.531A>G (p.Lys177=) rs558360994 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_031885.5(BBS2):c.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_031885.5(BBS2):c.-146G>A rs886052153 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.117+10C>T rs376041093 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 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.1615C>T (p.Arg539Trp) rs1175381219 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.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.1950T>C (p.Leu650=) rs752978565 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.2059+15A>G rs571449292 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.717+16C>A rs752825833 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1225+17A>G rs1444102830 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 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.1616G>A (p.Arg539Gln) rs753398421 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.1851T>C (p.His617=) rs1259765246 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 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.2104A>G (p.Ile702Val) rs750150867 0.00002
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser) rs202054876 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 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.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 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.988G>A (p.Asp330Asn) rs144573829 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+2T>C rs771554923 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.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.1155C>G (p.Thr385=) rs749121755 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.117+1G>A rs1964866367 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 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.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1257A>G (p.Ala419=) rs747607168 0.00001
NM_031885.5(BBS2):c.1267T>C (p.Phe423Leu) rs754625376 0.00001
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly) rs752065274 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.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.143G>A (p.Arg48Gln) rs775577429 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 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.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1601G>A (p.Cys534Tyr) rs1964174593 0.00001
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp) rs747228782 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.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 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.1804G>A (p.Glu602Lys) rs1199835895 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala) rs1964133123 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 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.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.194A>T (p.Asp65Val) rs746643609 0.00001
NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys) rs766476238 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.1989C>T (p.Asn663=) rs373278876 0.00001
NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser) rs1963755946 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 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.2087C>T (p.Thr696Ile) rs780369177 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.2152del (p.Thr718fs) rs1156738620 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 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.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser) rs1275057392 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr) rs1348932407 0.00001
NM_031885.5(BBS2):c.42C>T (p.Ile14=) rs764339260 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.483C>T (p.Asp161=) rs375074141 0.00001
NM_031885.5(BBS2):c.504del (p.Leu168fs) rs1224014742 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 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.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly) rs1325859248 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.612+1G>T rs1964531402 0.00001
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala) rs1183364786 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.66G>T (p.Gly22=) rs1348539618 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+16C>T rs752825833 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.717+5G>A rs1567579212 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 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.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 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.986T>C (p.Met329Thr) rs201146063 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
GRCh38/hg38 16q13(chr16:56496014-56504285)
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NC_000016.9:g.(?_56534756)_(56545206_?)del
NC_000016.9:g.(?_56544751)_(56545216_?)del
NC_000016.9:g.(?_56545061)_(56545206_?)del
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.5(BBS2):c.1006G>A (p.Asp336Asn)
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln)
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.1064A>T (p.Tyr355Phe) rs1477561197
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.1081-16G>A
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
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.109A>G (p.Thr37Ala) rs1284353332
NM_031885.5(BBS2):c.1108G>A (p.Ala370Thr) rs1597015825
NM_031885.5(BBS2):c.110del (p.Thr37fs) rs2144214319
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val) rs1366351316
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.111G>T (p.Thr37=) rs191867233
NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp) rs748872389
NM_031885.5(BBS2):c.113del (p.Gly38fs) rs2144214277
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
NM_031885.5(BBS2):c.1150C>A (p.His384Asn) rs2144145489
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.1161del (p.Ser388fs) rs2144145429
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
NM_031885.5(BBS2):c.1164A>G (p.Ser388=) rs1425704431
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
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+6C>G
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.1179_1180del (p.Asn393fs)
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.118-1G>T
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.118-6T>A rs2144193881
NM_031885.5(BBS2):c.118-8T>G
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly)
NM_031885.5(BBS2):c.1197T>C (p.His399=)
NM_031885.5(BBS2):c.119T>G (p.Val40Gly) rs1964683448
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro) rs192007013
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.1215C>A (p.Ser405=) rs768053787
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs) rs2144145120
NM_031885.5(BBS2):c.1221T>C (p.Ser407=) rs2144145106
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
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.1225+1del
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1225+6A>G rs2144145043
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.1264A>G (p.Ile422Val) rs1964254046
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.1307A>G (p.Asn436Ser) rs1964252649
NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile)
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr) rs2144193766
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu) rs1964251202
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
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.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser)
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
NM_031885.5(BBS2):c.1397+10T>G
NM_031885.5(BBS2):c.1397+15G>A
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG
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.1421C>T (p.Ser474Leu)
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.1447A>G (p.Met483Val) rs748721721
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr)
NM_031885.5(BBS2):c.144G>A (p.Arg48=)
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1455G>A (p.Ala485=) rs749317806
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly) rs1964211173
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.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1492T>A (p.Tyr498Asn) rs1261310336
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.1514A>G (p.Glu505Gly)
NM_031885.5(BBS2):c.1515A>G (p.Glu505=)
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
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+17del
NM_031885.5(BBS2):c.1527+18C>T
NM_031885.5(BBS2):c.1527+19T>G
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+20C>G
NM_031885.5(BBS2):c.1527+2T>G
NM_031885.5(BBS2):c.1527+3_1527+6del rs1964208752
NM_031885.5(BBS2):c.1528-16T>C rs1430495735
NM_031885.5(BBS2):c.1528-19C>A
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
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.1534G>T (p.Val512Leu)
NM_031885.5(BBS2):c.153T>C (p.His51=)
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe)
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.1551C>T (p.Asn517=) rs1306411366
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
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.155T>A (p.Val52Asp) rs2144193671
NM_031885.5(BBS2):c.1569C>T (p.Asp523=)
NM_031885.5(BBS2):c.156C>T (p.Val52=) rs1468099662
NM_031885.5(BBS2):c.1572_1575del (p.His525fs) rs2144134877
NM_031885.5(BBS2):c.1583A>G (p.Asn528Ser) rs2144134843
NM_031885.5(BBS2):c.1585G>A (p.Ala529Thr) rs1964175201
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
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.1634A>C (p.His545Pro) rs1461988620
NM_031885.5(BBS2):c.1649T>C (p.Leu550Pro) rs2144134545
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1650T>C (p.Leu550=)
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr) rs1442649485
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.1662del (p.Thr555fs)
NM_031885.5(BBS2):c.1662dup (p.Thr555fs) rs2144132870
NM_031885.5(BBS2):c.1671T>C (p.Asn557=)
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn)
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)
NM_031885.5(BBS2):c.1686T>C (p.Asp562=) rs1382087682
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr) rs780747680
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
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.1744G>A (p.Val582Ile) rs2144132540
NM_031885.5(BBS2):c.1746A>G (p.Val582=)
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr)
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
NM_031885.5(BBS2):c.175del (p.Gln59fs) rs2144193544
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1776A>G (p.Glu592=) rs2144132413
NM_031885.5(BBS2):c.1786G>C (p.Val596Leu)
NM_031885.5(BBS2):c.1791A>C (p.Leu597=) rs2144132339
NM_031885.5(BBS2):c.1791A>T (p.Leu597=)
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.1797G>A (p.Lys599=) rs1177431007
NM_031885.5(BBS2):c.1798-10T>C rs1964135497
NM_031885.5(BBS2):c.1798-16T>C
NM_031885.5(BBS2):c.1798-18A>G
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
NM_031885.5(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs) rs1964134678
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr)
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
NM_031885.5(BBS2):c.1812T>C (p.His604=)
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.1818G>A (p.Val606=) rs1964134267
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
NM_031885.5(BBS2):c.1840A>G (p.Met614Val)
NM_031885.5(BBS2):c.1841T>C (p.Met614Thr)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr) rs2144130068
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
NM_031885.5(BBS2):c.1902G>C (p.Met634Ile)
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-10dup
NM_031885.5(BBS2):c.1911-14A>C
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C
NM_031885.5(BBS2):c.1911-6G>A rs1000103343
NM_031885.5(BBS2):c.1911-8T>G rs1260335822
NM_031885.5(BBS2):c.1911-986_1914del
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr)
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter) rs1044072013
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=) rs1014315603
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
NM_031885.5(BBS2):c.1957G>C (p.Asp653His)
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
NM_031885.5(BBS2):c.1964T>C (p.Leu655Pro) rs2144095663
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe) rs753656568
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=) rs895581773
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter) rs895581773
NM_031885.5(BBS2):c.1981C>G (p.Arg661Gly)
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
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.2006T>G (p.Leu669Trp) rs2144095498
NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys) rs1963755306
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.2033C>T (p.Ala678Val) rs1191917991
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr) rs777000749
NM_031885.5(BBS2):c.2046A>C (p.Ala682=) rs2144095335
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
NM_031885.5(BBS2):c.2051G>A (p.Arg684His) rs138913160
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+1G>T rs2144095211
NM_031885.5(BBS2):c.2059+7C>T
NM_031885.5(BBS2):c.2059+8T>G
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu) rs754067097
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.2060-5T>G rs374531370
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.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.2091T>G (p.Ala697=) rs1412519720
NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro) rs2144093137
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs) rs2144093084
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln) rs1963728958
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro) rs1963728191
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
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.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.227G>C (p.Ser76Thr) rs895169510
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.237T>A (p.Thr79=) rs756639098
NM_031885.5(BBS2):c.239C>T (p.Ala80Val) rs1964679008
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.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_031885.5(BBS2):c.258G>A (p.Glu86=)
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)
NM_031885.5(BBS2):c.265T>C (p.Tyr89His)
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp) rs2144193029
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.307del (p.Tyr103fs)
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.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
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+1G>A
NM_031885.5(BBS2):c.345+4A>C
NM_031885.5(BBS2):c.345+4A>G
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.346-12del rs777667452
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.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.362del (p.Asn121fs)
NM_031885.5(BBS2):c.365C>G (p.Ala122Gly) rs17856449
NM_031885.5(BBS2):c.366A>C (p.Ala122=) rs1191119235
NM_031885.5(BBS2):c.374T>C (p.Leu125Pro) rs2144181949
NM_031885.5(BBS2):c.381A>G (p.Thr127=)
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
NM_031885.5(BBS2):c.399C>A (p.Ser133=)
NM_031885.5(BBS2):c.399C>T (p.Ser133=)
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.405T>C (p.Leu135=)
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly) rs373166163
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
NM_031885.5(BBS2):c.428C>T (p.Ala143Val) rs2144181662
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.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.441C>T (p.Phe147=) rs2144181587
NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)
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.466T>G (p.Trp156Gly)
NM_031885.5(BBS2):c.466del (p.Trp156fs)
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
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.471+1G>A rs1555523584
NM_031885.5(BBS2):c.471+1G>C rs1555523584
NM_031885.5(BBS2):c.471+3A>G rs1964565857
NM_031885.5(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.5(BBS2):c.472-13del
NM_031885.5(BBS2):c.472-18T>C
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031885.5(BBS2):c.472-6T>C rs2144180463
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.484_495del (p.Asn162_Ser165del) rs2144180368
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)
NM_031885.5(BBS2):c.4C>A (p.Leu2Met) rs2144214806
NM_031885.5(BBS2):c.501C>G (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.501C>T (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
NM_031885.5(BBS2):c.516T>C (p.Asp172=) rs1387025266
NM_031885.5(BBS2):c.519T>C (p.Gly173=)
NM_031885.5(BBS2):c.51A>T (p.Arg17=)
NM_031885.5(BBS2):c.522T>C (p.Asp174=)
NM_031885.5(BBS2):c.528G>A (p.Lys176=)
NM_031885.5(BBS2):c.528del (p.Glu178fs)
NM_031885.5(BBS2):c.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T
NM_031885.5(BBS2):c.534+11del
NM_031885.5(BBS2):c.534+11dup
NM_031885.5(BBS2):c.534+17A>G
NM_031885.5(BBS2):c.534+18T>C
NM_031885.5(BBS2):c.534+19A>C rs930327101
NM_031885.5(BBS2):c.534+19A>G
NM_031885.5(BBS2):c.534+5G>T
NM_031885.5(BBS2):c.534+7G>T rs886052149
NM_031885.5(BBS2):c.534+9G>A
NM_031885.5(BBS2):c.534+9G>T rs2144180024
NM_031885.5(BBS2):c.535-15A>T
NM_031885.5(BBS2):c.535-16_535-14del
NM_031885.5(BBS2):c.535-18A>G
NM_031885.5(BBS2):c.535-19T>C
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.535-20G>C
NM_031885.5(BBS2):c.535-27_535-3del rs751101598
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_031885.5(BBS2):c.535-4_535-3insA
NM_031885.5(BBS2):c.535-6C>T rs2144177148
NM_031885.5(BBS2):c.535-6del rs1237158483
NM_031885.5(BBS2):c.535-8C>T rs2144177202
NM_031885.5(BBS2):c.535-9C>T rs2144177223
NM_031885.5(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.5(BBS2):c.544G>C (p.Gly182Arg) rs1964532476
NM_031885.5(BBS2):c.552G>C (p.Glu184Asp) rs1423768973
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.55G>C (p.Val19Leu)
NM_031885.5(BBS2):c.564C>A (p.Ile188=)
NM_031885.5(BBS2):c.564C>T (p.Ile188=)
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)
NM_031885.5(BBS2):c.573T>C (p.Phe191=) rs2144176995
NM_031885.5(BBS2):c.57G>A (p.Val19=)
NM_031885.5(BBS2):c.588T>C (p.Ile196=)
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
NM_031885.5(BBS2):c.60C>T (p.Ala20=)
NM_031885.5(BBS2):c.612+14C>T rs770986334
NM_031885.5(BBS2):c.612+16T>A
NM_031885.5(BBS2):c.612+17C>G rs745726316
NM_031885.5(BBS2):c.612+18G>T rs200364314
NM_031885.5(BBS2):c.612+7A>G
NM_031885.5(BBS2):c.613-11T>C
NM_031885.5(BBS2):c.613-17dup
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.613-1G>T
NM_031885.5(BBS2):c.613-5dup
NM_031885.5(BBS2):c.615A>T (p.Ile205=)
NM_031885.5(BBS2):c.618C>T (p.Val206=)
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)
NM_031885.5(BBS2):c.621C>T (p.Thr207=) rs1481865252
NM_031885.5(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.633C>G (p.Pro211=)
NM_031885.5(BBS2):c.633C>T (p.Pro211=)
NM_031885.5(BBS2):c.636G>A (p.Met212Ile) rs1461732222
NM_031885.5(BBS2):c.651T>G (p.Phe217Leu) rs2144163118
NM_031885.5(BBS2):c.654T>C (p.Gly218=)
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
NM_031885.5(BBS2):c.661C>T (p.Leu221Phe) rs2144163050
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)
NM_031885.5(BBS2):c.672C>G (p.Gly224=)
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)
NM_031885.5(BBS2):c.675A>C (p.Thr225=) rs2144162957
NM_031885.5(BBS2):c.681A>G (p.Gly227=) rs2144162940
NM_031885.5(BBS2):c.684T>A (p.Val228=) rs2144162919
NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp) rs778543585
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro) rs1162842645
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.69C>T (p.Arg23=)
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)
NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg) rs2144162792
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.717+7A>G rs2144162735
NM_031885.5(BBS2):c.718-10T>C rs2144162525
NM_031885.5(BBS2):c.718-19T>G
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.718-2A>G rs1964413705
NM_031885.5(BBS2):c.718-4T>G rs1265021801
NM_031885.5(BBS2):c.718-9C>A rs2144162512
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
NM_031885.5(BBS2):c.723A>G (p.Lys241=)
NM_031885.5(BBS2):c.726T>C (p.Asn242=) rs1481166462
NM_031885.5(BBS2):c.750T>C (p.Phe250=)
NM_031885.5(BBS2):c.75C>T (p.Asp25=) rs1964868134
NM_031885.5(BBS2):c.764A>C (p.Asp255Ala) rs1436713218
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.768A>C (p.Gly256=) rs2144162236
NM_031885.5(BBS2):c.770T>A (p.Val257Glu)
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
NM_031885.5(BBS2):c.780G>A (p.Leu260=)
NM_031885.5(BBS2):c.780G>C (p.Leu260=)
NM_031885.5(BBS2):c.786T>G (p.Thr262=)
NM_031885.5(BBS2):c.795C>T (p.Ser265=) rs1172637602
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
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+1G>T rs2144162056
NM_031885.5(BBS2):c.804+1_804+14del rs1202682571
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.806T>C (p.Val269Ala) rs886039797
NM_031885.5(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.807T>C (p.Val269=) rs2144150832
NM_031885.5(BBS2):c.812C>T (p.Ala271Val)
NM_031885.5(BBS2):c.812del (p.Ala271fs)
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)
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.838A>G (p.Ile280Val)
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.871G>A (p.Gly291Ser)
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
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.892C>T (p.Arg298Trp)
NM_031885.5(BBS2):c.892del (p.Arg298fs) rs2144150359
NM_031885.5(BBS2):c.897G>C (p.Met299Ile) rs759147772
NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
NM_031885.5(BBS2):c.8T>A (p.Leu3Gln) rs1964870972
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.912G>A (p.Gln304=) rs2144150234
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.916A>G (p.Ile306Val) rs1964310396
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
NM_031885.5(BBS2):c.940+18A>G
NM_031885.5(BBS2):c.940+20A>G
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_031885.5(BBS2):c.941-10T>C
NM_031885.5(BBS2):c.941-13dup
NM_031885.5(BBS2):c.941-19G>A
NM_031885.5(BBS2):c.941-1G>C rs777234811
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-20G>T
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.941-2A>G
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.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.960C>G (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
NM_031885.5(BBS2):c.973del (p.Arg325fs)
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_031885.5(BBS2):c.975G>A (p.Arg325=) rs1276623881
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)
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.992C>A (p.Thr331Asn)
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser) rs2144148951
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)
NM_031885.5(BBS2):c.993C>T (p.Thr331=) rs1964300336
NM_031885.5(BBS2):c.994A>G (p.Ser332Gly) rs576081735
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.