ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 933
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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
NC_000016.10:g.56520101C>T 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 0.00410
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00243
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.126T>G (p.Ile42Met) rs139945733 0.00060
NM_031885.5(BBS2):c.1659+18G>A rs371421381 0.00060
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00052
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00041
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.1238G>A (p.Arg413Gln) rs141683908 0.00031
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00030
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00027
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00026
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.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 0.00017
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758 0.00015
NM_031885.5(BBS2):c.878T>C (p.Val293Ala) rs370443952 0.00015
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu) rs199940492 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.892C>T (p.Arg298Trp) rs564480063 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 0.00008
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu) rs181736797 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser) rs528685215 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00007
NM_031885.5(BBS2):c.1786G>A (p.Val596Met) rs375828912 0.00007
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00006
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.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.1209C>T (p.Arg403=) rs747086491 0.00005
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile) rs143153259 0.00005
NM_031885.5(BBS2):c.1797+13G>A rs769739310 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.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val) rs773315255 0.00004
NM_031885.5(BBS2):c.1798-11A>G rs374344685 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00004
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 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.744T>C (p.His248=) rs186893286 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00004
NM_031885.5(BBS2):c.970A>T (p.Met324Leu) rs778551017 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.1121G>A (p.Arg374Gln) rs371765731 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.1527+13C>T rs756219595 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln) rs753398421 0.00003
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr) rs745378319 0.00003
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln) rs759714501 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.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.2059+15A>G rs571449292 0.00003
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser) rs202054876 0.00003
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe) rs1473380265 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 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.61A>G (p.Ile21Val) rs1319616745 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.1225+19C>T rs564848200 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1470C>T (p.Asp490=) rs370024579 0.00002
NM_031885.5(BBS2):c.1527+18C>T rs1222343879 0.00002
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 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.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val) rs750150867 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.612+16T>A rs2543729475 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.801G>T (p.Gly267=) rs768698703 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln) rs762922907 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.983T>C (p.Leu328Pro) rs753806664 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+18T>C rs773134471 0.00001
NM_031885.5(BBS2):c.1080+7G>A rs1161249297 0.00001
NM_031885.5(BBS2):c.1080+9A>G rs1389833648 0.00001
NM_031885.5(BBS2):c.1081-16G>A rs1245078045 0.00001
NM_031885.5(BBS2):c.1083T>A (p.Ala361=) rs951758684 0.00001
NM_031885.5(BBS2):c.1092C>A (p.Ala364=) rs1394766615 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 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.1158G>A (p.Thr386=) rs199944942 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+16C>G rs540688936 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.117+19A>C rs945280815 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.117+9T>C rs1441696767 0.00001
NM_031885.5(BBS2):c.1171C>T (p.Leu391=) rs752474817 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.118-15T>C rs767696418 0.00001
NM_031885.5(BBS2):c.118-17A>C rs189431371 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly) rs1964268173 0.00001
NM_031885.5(BBS2):c.1225+12C>T rs1964265794 0.00001
NM_031885.5(BBS2):c.1225+16C>T rs774382271 0.00001
NM_031885.5(BBS2):c.1225+2T>C rs1279981768 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.1326C>T (p.Cys442=) rs1478971000 0.00001
NM_031885.5(BBS2):c.1329C>T (p.Ile443=) rs1244466598 0.00001
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu) rs1964251202 0.00001
NM_031885.5(BBS2):c.1397+7C>A rs771297840 0.00001
NM_031885.5(BBS2):c.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.1398-7G>T rs2144139575 0.00001
NM_031885.5(BBS2):c.1421C>T (p.Ser474Leu) rs768215650 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.1456C>T (p.Leu486=) rs780493609 0.00001
NM_031885.5(BBS2):c.1458G>A (p.Leu486=) rs756379392 0.00001
NM_031885.5(BBS2):c.1467G>A (p.Leu489=) rs1264301102 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=) rs889525343 0.00001
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly) rs776226787 0.00001
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190 0.00001
NM_031885.5(BBS2):c.1521A>G (p.Ala507=) rs1442813475 0.00001
NM_031885.5(BBS2):c.1527+11C>T rs749432450 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.1599G>A (p.Val533=) rs1315793435 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+17C>T rs372523322 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.1660-16T>C rs1462895887 0.00001
NM_031885.5(BBS2):c.1660-17A>G rs773367991 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1719A>G (p.Ser573=) rs550499596 0.00001
NM_031885.5(BBS2):c.1746A>G (p.Val582=) rs1964155579 0.00001
NM_031885.5(BBS2):c.1752G>A (p.Ala584=) rs1488820299 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.1797+17G>A rs374703281 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.1841T>C (p.Met614Thr) rs202230432 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.1902G>C (p.Met634Ile) rs886052145 0.00001
NM_031885.5(BBS2):c.1911-10A>T rs747869137 0.00001
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr) rs1963759243 0.00001
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg) rs1473211343 0.00001
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=) rs1044072013 0.00001
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00001
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys) rs758343294 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.1957G>C (p.Asp653His) rs765364996 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.2005T>C (p.Leu669=) rs774115639 0.00001
NM_031885.5(BBS2):c.2025A>G (p.Val675=) rs939765873 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.2060-6A>G rs1226649220 0.00001
NM_031885.5(BBS2):c.2060-8T>C rs2144093365 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.2106T>A (p.Ile702=) rs1314393067 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.224T>G (p.Val75Gly) rs121908174 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842 0.00001
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722 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+1G>A rs771700269 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 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.51A>T (p.Arg17=) rs1964869336 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.528G>A (p.Lys176=) rs751016391 0.00001
NM_031885.5(BBS2):c.534+13G>A rs748319105 0.00001
NM_031885.5(BBS2):c.534+18T>C rs1048987667 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.535-18A>G rs764918423 0.00001
NM_031885.5(BBS2):c.535-19T>C rs752429862 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.60C>T (p.Ala20=) rs1454752754 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.613-11T>C rs1410677685 0.00001
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile) rs1964419379 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp) rs1375309270 0.00001
NM_031885.5(BBS2):c.660C>G (p.Ala220=) rs1447227184 0.00001
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser) rs146173201 0.00001
NM_031885.5(BBS2):c.66G>T (p.Gly22=) rs1348539618 0.00001
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg) rs2144162792 0.00001
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys) rs377718970 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.718-9C>A rs2144162512 0.00001
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu) rs778179694 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.786T>G (p.Thr262=) rs1964411327 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.5(BBS2):c.805-15G>A rs751391305 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 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.898G>T (p.Asp300Tyr) rs776115321 0.00001
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs) rs2543755742 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.941-19G>A rs772864344 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389 0.00001
NM_031885.5(BBS2):c.945G>A (p.Arg315=) rs2288057 0.00001
NM_031885.5(BBS2):c.960C>G (p.Gly320=) rs369415186 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_031885.5(BBS2):c.9G>T (p.Leu3=) rs1964870902 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.(?_56530859)_(56536740_?)dup
NC_000016.9:g.(?_56534756)_(56545206_?)del
NC_000016.9:g.(?_56535245)_(56536740_?)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) rs369493520
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=) rs1331637717
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1015del (p.Arg339fs) rs2543712679
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln) rs751171674
NM_031885.5(BBS2):c.1038G>A (p.Gln346=) rs2543712599
NM_031885.5(BBS2):c.1042C>T (p.Leu348=) rs1407743093
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 rs2144148576
NM_031885.5(BBS2):c.1080+10G>C rs2144148576
NM_031885.5(BBS2):c.1080+11G>T rs1400919089
NM_031885.5(BBS2):c.1080+18dup rs1964297139
NM_031885.5(BBS2):c.1080+2T>C rs771554923
NM_031885.5(BBS2):c.1080+8T>G rs2543712409
NM_031885.5(BBS2):c.1081-14G>C rs2543709721
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
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.113G>A (p.Gly38Asp) rs748872389
NM_031885.5(BBS2):c.113del (p.Gly38fs) rs2144214277
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile) rs141401728
NM_031885.5(BBS2):c.1146G>A (p.Arg382=) rs1420277794
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs) rs2543709313
NM_031885.5(BBS2):c.1150C>A (p.His384Asn) rs2144145489
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) rs2543709238
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter) rs745820842
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 rs1567588665
NM_031885.5(BBS2):c.117+12C>T rs2543755513
NM_031885.5(BBS2):c.117+15C>G rs765794155
NM_031885.5(BBS2):c.117+16C>T rs540688936
NM_031885.5(BBS2):c.117+19A>T rs945280815
NM_031885.5(BBS2):c.117+6C>G rs574107668
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.1179T>C (p.Asn393=) rs2144145352
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs) rs2543709159
NM_031885.5(BBS2):c.118-13A>G rs2543742113
NM_031885.5(BBS2):c.118-16G>T rs2543742145
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-1G>T rs587777825
NM_031885.5(BBS2):c.118-2A>C rs2543742094
NM_031885.5(BBS2):c.118-6T>A rs2144193881
NM_031885.5(BBS2):c.118-8T>G rs2543742110
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1197T>C (p.His399=) rs758097463
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) rs192007013
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) rs2543709020
NM_031885.5(BBS2):c.1225+10T>A rs1597015665
NM_031885.5(BBS2):c.1225+10T>C rs1597015665
NM_031885.5(BBS2):c.1225+11A>G rs2543708948
NM_031885.5(BBS2):c.1225+14C>T rs2543708936
NM_031885.5(BBS2):c.1225+1del rs2543708990
NM_031885.5(BBS2):c.1225+6A>G rs2144145043
NM_031885.5(BBS2):c.1226-11C>G rs371851180
NM_031885.5(BBS2):c.1226-18T>A
NM_031885.5(BBS2):c.1226-4G>A rs2543707990
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=) rs2543707956
NM_031885.5(BBS2):c.1242A>G (p.Ala414=) rs2543707931
NM_031885.5(BBS2):c.1260A>G (p.Glu420=) rs2144143564
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) rs758529129
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs) rs2543707585
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile) rs1964252143
NM_031885.5(BBS2):c.1323C>T (p.Ile441=) rs759783261
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr) rs2144193766
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs) rs1324759342
NM_031885.5(BBS2):c.1353C>A (p.Val451=)
NM_031885.5(BBS2):c.1353C>T (p.Val451=) rs2543707540
NM_031885.5(BBS2):c.1368C>T (p.His456=) rs2144143152
NM_031885.5(BBS2):c.1369T>C (p.Leu457=) rs2543707485
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=) rs1128808
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser) rs2543707416
NM_031885.5(BBS2):c.1393del (p.Ser465fs) rs2543707408
NM_031885.5(BBS2):c.1397+10T>G rs2543707319
NM_031885.5(BBS2):c.1397+15G>A rs2543707303
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C rs779506379
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG rs2543707338
NM_031885.5(BBS2):c.1397+7C>T rs771297840
NM_031885.5(BBS2):c.1397+9T>C rs2543707349
NM_031885.5(BBS2):c.1397+9_1397+10dup
NM_031885.5(BBS2):c.1398-10T>C rs2543704662
NM_031885.5(BBS2):c.1398-14T>C rs2543704675
NM_031885.5(BBS2):c.1398-4A>G rs2543704631
NM_031885.5(BBS2):c.1398-5C>T rs1393735395
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=) rs971361314
NM_031885.5(BBS2):c.1419A>G (p.Glu473=) rs2543704552
NM_031885.5(BBS2):c.1422G>C (p.Ser474=) rs117033008
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.1428_1431del (p.Arg476fs)
NM_031885.5(BBS2):c.1431G>A (p.Gln477=) rs2543704525
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=) rs1283642215
NM_031885.5(BBS2):c.1447A>G (p.Met483Val) rs748721721
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr) rs2543704470
NM_031885.5(BBS2):c.144G>A (p.Arg48=) rs2543741966
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=) rs2543704446
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly) rs376115616
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) rs2543704394
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly) rs1964211173
NM_031885.5(BBS2):c.147C>T (p.Asn49=) rs2543741951
NM_031885.5(BBS2):c.1482G>A (p.Glu494=) rs1964210728
NM_031885.5(BBS2):c.1485A>T (p.Pro495=) rs2543704363
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.1500C>T (p.Asn500=) rs2144139077
NM_031885.5(BBS2):c.1506C>A (p.Thr502=) rs1049924092
NM_031885.5(BBS2):c.1512A>G (p.Ala504=) rs1964209552
NM_031885.5(BBS2):c.1515A>G (p.Glu505=) rs2543704234
NM_031885.5(BBS2):c.1524G>A (p.Gln508=) rs2144138957
NM_031885.5(BBS2):c.1527+17del rs1356671129
NM_031885.5(BBS2):c.1527+19T>C
NM_031885.5(BBS2):c.1527+19T>G rs1159701065
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+20C>G rs2543704128
NM_031885.5(BBS2):c.1527+2T>G rs2543704184
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 rs2543700771
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
NM_031885.5(BBS2):c.1528-4C>G rs1964177299
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) rs2543700682
NM_031885.5(BBS2):c.153T>C (p.His51=) rs2543741941
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe) rs2543700655
NM_031885.5(BBS2):c.1542C>G (p.Leu514=) rs374156464
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) rs2543700574
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=) rs2543700524
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=) rs1296939877
NM_031885.5(BBS2):c.1590A>T (p.Pro530=)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1626C>T (p.Gly542=) rs2543700266
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=) rs2543700188
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr) rs1442649485
NM_031885.5(BBS2):c.1659+10A>G rs2543700110
NM_031885.5(BBS2):c.1659+11A>C rs2543700100
NM_031885.5(BBS2):c.165C>G (p.Ser55=)
NM_031885.5(BBS2):c.165C>T (p.Ser55=) rs2144193611
NM_031885.5(BBS2):c.1660-12T>A
NM_031885.5(BBS2):c.1660-13_1660-11del rs2543698712
NM_031885.5(BBS2):c.1660-17A>T
NM_031885.5(BBS2):c.1660-17_1660-16del rs762198535
NM_031885.5(BBS2):c.1660-18T>C rs1418394673
NM_031885.5(BBS2):c.1660-9T>G rs2543698693
NM_031885.5(BBS2):c.1662C>T (p.Ile554=) rs774112668
NM_031885.5(BBS2):c.1662del (p.Thr555fs) rs2525100006
NM_031885.5(BBS2):c.1662dup (p.Thr555fs) rs2144132870
NM_031885.5(BBS2):c.1671T>C (p.Asn557=) rs2543698644
NM_031885.5(BBS2):c.1674T>C (p.Thr558=) rs779980535
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn) rs2543698633
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=) rs1397960118
NM_031885.5(BBS2):c.1701C>A (p.Ile567=)
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.1728T>C (p.Ala576=) rs2144132596
NM_031885.5(BBS2):c.1731T>C (p.Ile577=) rs2543698437
NM_031885.5(BBS2):c.1744G>A (p.Val582Ile) rs2144132540
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr) rs1462271571
NM_031885.5(BBS2):c.1758T>C (p.Phe586=) rs2543698342
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) rs2543698295
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) rs375828912
NM_031885.5(BBS2):c.1791A>C (p.Leu597=) rs2144132339
NM_031885.5(BBS2):c.1791A>T (p.Leu597=) rs2144132339
NM_031885.5(BBS2):c.1794T>A (p.Val598=) rs2543698177
NM_031885.5(BBS2):c.1797+14G>T rs1333669328
NM_031885.5(BBS2):c.1797+20G>T
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 rs2543695741
NM_031885.5(BBS2):c.1798-18A>G rs1324625065
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1800G>T (p.Val600=) rs556713242
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter) rs2543695667
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=) rs2543741833
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr) rs2543695612
NM_031885.5(BBS2):c.1811_1821del (p.His604fs) rs2543695563
NM_031885.5(BBS2):c.1812T>C (p.His604=) rs2543695607
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) rs2543695558
NM_031885.5(BBS2):c.1830del (p.Ser611fs)
NM_031885.5(BBS2):c.1836T>C (p.Ala612=) rs2543695516
NM_031885.5(BBS2):c.1839T>C (p.Asp613=) rs921965548
NM_031885.5(BBS2):c.1840A>G (p.Met614Val) rs975131601
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) rs1320185273
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr) rs2144130068
NM_031885.5(BBS2):c.184del (p.Leu62fs)
NM_031885.5(BBS2):c.1857T>C (p.Asn619=) rs2543695396
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=) rs555264290
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1899G>C (p.Leu633=) rs2543695217
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-10dup rs2543672726
NM_031885.5(BBS2):c.1911-14A>C rs2543672736
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C rs1555520256
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 rs2543672661
NM_031885.5(BBS2):c.1922del (p.Lys641fs) rs2543672636
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter) rs1044072013
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=) rs1014315603
NM_031885.5(BBS2):c.1950T>A (p.Leu650=) rs752978565
NM_031885.5(BBS2):c.195T>C (p.Asp65=) rs2543741780
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) rs766476238
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs) rs2543672359
NM_031885.5(BBS2):c.1998A>G (p.Thr666=) rs2543672357
NM_031885.5(BBS2):c.2002C>T (p.Leu668=) rs2144095506
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.2016C>G (p.Leu672=) rs768160656
NM_031885.5(BBS2):c.2019A>G (p.Lys673=) rs1963754919
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=) rs11555776
NM_031885.5(BBS2):c.2051G>A (p.Arg684His) rs138913160
NM_031885.5(BBS2):c.2055G>A (p.Leu685=) rs2543672177
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 rs2543672061
NM_031885.5(BBS2):c.2059+1G>T rs2144095211
NM_031885.5(BBS2):c.2059+7C>T rs113740983
NM_031885.5(BBS2):c.2059+8T>G rs2543672114
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu) rs754067097
NM_031885.5(BBS2):c.2060-10T>C rs2144093380
NM_031885.5(BBS2):c.2060-10del
NM_031885.5(BBS2):c.2060-18A>T rs773836403
NM_031885.5(BBS2):c.2060-4G>A rs1963731219
NM_031885.5(BBS2):c.2060-5T>G rs374531370
NM_031885.5(BBS2):c.2060-7T>C rs1294158153
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=) rs2543670481
NM_031885.5(BBS2):c.2067A>G (p.Lys689=) rs1963730656
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>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln) rs1963728958
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu) rs1963728958
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile) rs2543670279
NM_031885.5(BBS2):c.2121C>T (p.Ile707=) rs1033576905
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro) rs1963728191
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del) rs2543741648
NM_031885.5(BBS2):c.2130G>A (p.Leu710=) rs2543670223
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=) rs1374151749
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.21C>T (p.Thr7=) rs1311176453
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.23T>C (p.Leu8Pro)
NM_031885.5(BBS2):c.240A>G (p.Ala80=) rs201475783
NM_031885.5(BBS2):c.243C>A (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.243C>T (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.24G>A (p.Leu8=) rs2543756084
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=) rs1567584829
NM_031885.5(BBS2):c.265T>C (p.Tyr89His) rs2543741451
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn) rs2543741427
NM_031885.5(BBS2):c.270T>C (p.Asp90=) rs2543741415
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp) rs2144193029
NM_031885.5(BBS2):c.273C>A (p.Ala91=) rs1181643265
NM_031885.5(BBS2):c.277T>C (p.Leu93=) rs2543741389
NM_031885.5(BBS2):c.27A>G (p.Lys9=) rs2543756074
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=) rs2543756063
NM_031885.5(BBS2):c.291G>A (p.Gln97=) rs2543741306
NM_031885.5(BBS2):c.297T>C (p.Asn99=) rs2144192928
NM_031885.5(BBS2):c.301T>C (p.Leu101=)
NM_031885.5(BBS2):c.306T>C (p.Ala102=) rs2543741231
NM_031885.5(BBS2):c.307del (p.Tyr103fs) rs753557069
NM_031885.5(BBS2):c.312T>C (p.Asp104=) rs2543741175
NM_031885.5(BBS2):c.315C>G (p.Val105=) rs2543741152
NM_031885.5(BBS2):c.318C>T (p.Tyr106=) rs1964675433
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.339C>T (p.Tyr113=) rs2543741059
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 rs2543740959
NM_031885.5(BBS2):c.345+12C>T rs2144192648
NM_031885.5(BBS2):c.345+15del rs1964673122
NM_031885.5(BBS2):c.345+16A>G rs541766778
NM_031885.5(BBS2):c.345+17T>C rs1964672872
NM_031885.5(BBS2):c.345+4A>C rs749718244
NM_031885.5(BBS2):c.345+4A>G rs749718244
NM_031885.5(BBS2):c.345+8T>C rs2543740990
NM_031885.5(BBS2):c.346-11A>G rs2543733763
NM_031885.5(BBS2):c.346-12T>A rs2543733774
NM_031885.5(BBS2):c.346-12del rs777667452
NM_031885.5(BBS2):c.346-20T>C rs2543733810
NM_031885.5(BBS2):c.346-5C>T rs2543733743
NM_031885.5(BBS2):c.356_472-117del
NM_031885.5(BBS2):c.357G>T (p.Gly119=) rs2543733695
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.362del (p.Asn121fs) rs2543733677
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=) rs2543733576
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser) rs1964568798
NM_031885.5(BBS2):c.399C>A (p.Ser133=) rs775477661
NM_031885.5(BBS2):c.399C>T (p.Ser133=) rs775477661
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser) rs1275057392
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.405T>C (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu) rs373166163
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly) rs373166163
NM_031885.5(BBS2):c.420C>T (p.Gly140=) rs1369293430
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) rs2543733317
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=) rs1964566339
NM_031885.5(BBS2):c.466T>G (p.Trp156Gly) rs766369952
NM_031885.5(BBS2):c.466del (p.Trp156fs) rs2543733261
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer) rs2543733239
NM_031885.5(BBS2):c.471+10A>C rs1342804095
NM_031885.5(BBS2):c.471+12A>G rs2543733188
NM_031885.5(BBS2):c.471+14A>C rs2543733175
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.471+7A>G
NM_031885.5(BBS2):c.472-13del rs2543732471
NM_031885.5(BBS2):c.472-16G>A
NM_031885.5(BBS2):c.472-18T>C rs2543732492
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=) rs2543732364
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.495C>T (p.Ser165=) rs2543732340
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly) rs1398091050
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) rs2543732292
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg) rs2543732277
NM_031885.5(BBS2):c.516T>C (p.Asp172=) rs1387025266
NM_031885.5(BBS2):c.519T>C (p.Gly173=) rs2543732222
NM_031885.5(BBS2):c.522T>C (p.Asp174=) rs767373822
NM_031885.5(BBS2):c.528del (p.Glu178fs) rs2533672987
NM_031885.5(BBS2):c.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T rs1964556526
NM_031885.5(BBS2):c.534+11del rs1964556598
NM_031885.5(BBS2):c.534+11dup rs1964556598
NM_031885.5(BBS2):c.534+17A>G rs372085811
NM_031885.5(BBS2):c.534+19A>C rs930327101
NM_031885.5(BBS2):c.534+19A>G rs930327101
NM_031885.5(BBS2):c.534+5G>T rs2543732080
NM_031885.5(BBS2):c.534+7G>T rs886052149
NM_031885.5(BBS2):c.534+9G>A rs2144180024
NM_031885.5(BBS2):c.534+9G>T rs2144180024
NM_031885.5(BBS2):c.535-15A>T rs2543729873
NM_031885.5(BBS2):c.535-16_535-14del rs758981617
NM_031885.5(BBS2):c.535-1G>A rs2144177127
NM_031885.5(BBS2):c.535-20G>C rs1043239214
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 rs2543729813
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) rs1158566793
NM_031885.5(BBS2):c.564C>A (p.Ile188=) rs2543729713
NM_031885.5(BBS2):c.564C>T (p.Ile188=) rs2543729713
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln) rs183275652
NM_031885.5(BBS2):c.573T>C (p.Phe191=) rs2144176995
NM_031885.5(BBS2):c.57G>A (p.Val19=) rs2543755936
NM_031885.5(BBS2):c.588T>C (p.Ile196=) rs2543729621
NM_031885.5(BBS2):c.590_591del (p.Val197fs) rs2543729611
NM_031885.5(BBS2):c.591G>A (p.Val197=)
NM_031885.5(BBS2):c.612+12C>T
NM_031885.5(BBS2):c.612+14C>T rs770986334
NM_031885.5(BBS2):c.612+17C>G rs745726316
NM_031885.5(BBS2):c.612+18G>T rs200364314
NM_031885.5(BBS2):c.612+20A>G
NM_031885.5(BBS2):c.612+7A>G rs2543729528
NM_031885.5(BBS2):c.613-13G>A
NM_031885.5(BBS2):c.613-17dup rs1224538136
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.613-1G>T rs2144163316
NM_031885.5(BBS2):c.613-5dup rs2543721567
NM_031885.5(BBS2):c.615A>T (p.Ile205=) rs2543721543
NM_031885.5(BBS2):c.618C>T (p.Val206=) rs2543721538
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala) rs1183364786
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=) rs2543721475
NM_031885.5(BBS2):c.633C>T (p.Pro211=) rs2543721475
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=) rs2543721395
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=) rs2543721325
NM_031885.5(BBS2):c.672C>G (p.Gly224=) rs2543721301
NM_031885.5(BBS2):c.672C>T (p.Gly224=) rs2543721301
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg) rs2543721292
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) rs2543721252
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=) rs1475023400
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln) rs138433630
NM_031885.5(BBS2):c.705C>T (p.Tyr235=) rs2543721182
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T rs2543721113
NM_031885.5(BBS2):c.717+1G>T rs1047075022
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.717+7A>G rs2144162735
NM_031885.5(BBS2):c.717A>G (p.Lys239=)
NM_031885.5(BBS2):c.718-10T>C rs2144162525
NM_031885.5(BBS2):c.718-19T>G rs748770884
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.723A>G (p.Lys241=) rs35456666
NM_031885.5(BBS2):c.726T>C (p.Asn242=) rs1481166462
NM_031885.5(BBS2):c.750T>C (p.Phe250=) rs1964412267
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) rs2543720678
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter) rs2543720655
NM_031885.5(BBS2):c.780G>A (p.Leu260=) rs2543720643
NM_031885.5(BBS2):c.780G>C (p.Leu260=) rs2543720643
NM_031885.5(BBS2):c.795C>T (p.Ser265=) rs1172637602
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro) rs776681366
NM_031885.5(BBS2):c.801G>A (p.Gly267=) rs768698703
NM_031885.5(BBS2):c.804+15C>G rs2543720501
NM_031885.5(BBS2):c.804+17A>G rs1251878242
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 rs2144150878
NM_031885.5(BBS2):c.805-10T>G rs2144150878
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) rs1394838342
NM_031885.5(BBS2):c.812del (p.Ala271fs) rs2543714327
NM_031885.5(BBS2):c.813T>C (p.Ala271=) rs2543714314
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=) rs121908177
NM_031885.5(BBS2):c.838A>G (p.Ile280Val) rs983328918
NM_031885.5(BBS2):c.840C>T (p.Ile280=) rs1207765703
NM_031885.5(BBS2):c.861T>C (p.Ser287=) rs1964312932
NM_031885.5(BBS2):c.864A>C (p.Ala288=) rs1340236108
NM_031885.5(BBS2):c.873T>G (p.Gly291=)
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.892del (p.Arg298fs) rs2144150359
NM_031885.5(BBS2):c.897G>C (p.Met299Ile) rs759147772
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) rs2543713851
NM_031885.5(BBS2):c.940+18A>G rs2543713669
NM_031885.5(BBS2):c.940+20A>G rs770196780
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_031885.5(BBS2):c.941-10T>C rs1964303062
NM_031885.5(BBS2):c.941-13dup rs1964303291
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 rs760109919
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.941-2A>G rs878962682
NM_031885.5(BBS2):c.941-4del rs1964302734
NM_031885.5(BBS2):c.941-6G>T rs746397118
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.941-8C>T rs373354290
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys) rs2543712966
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.960C>T (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.969G>A (p.Glu323=) rs2543712897
NM_031885.5(BBS2):c.973del (p.Arg325fs) rs2543712872
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.984C>T (p.Leu328=) rs1285508370
NM_031885.5(BBS2):c.990C>T (p.Asp330=) rs2144148961
NM_031885.5(BBS2):c.992C>A (p.Thr331Asn) rs2144148951
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser) rs2144148951
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile) rs2144148951
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=) rs2543755674

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