ClinVar Miner

List of variants in gene BBS12 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 630
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00047
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_152618.3(BBS12):c.542C>G (p.Ser181Cys) rs765425168 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257 0.00008
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866 0.00007
NM_152618.3(BBS12):c.1102C>T (p.Arg368Cys) rs372534521 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_152618.3(BBS12):c.1858C>G (p.Gln620Glu) rs776100718 0.00005
NM_152618.3(BBS12):c.1230C>T (p.Asn410=) rs142657474 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln) rs144843913 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_152618.3(BBS12):c.69G>A (p.Ala23=) rs138579304 0.00004
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala) rs915644000 0.00004
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162 0.00003
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1608C>T (p.Phe536=) rs148277417 0.00003
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser) rs931117746 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_152618.3(BBS12):c.1101C>T (p.Tyr367=) rs775552494 0.00002
NM_152618.3(BBS12):c.1108C>T (p.Leu370=) rs777279530 0.00002
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.1455C>T (p.Asn485=) rs769369013 0.00002
NM_152618.3(BBS12):c.1524T>C (p.Val508=) rs1404842497 0.00002
NM_152618.3(BBS12):c.1662A>G (p.Ala554=) rs1424604685 0.00002
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe) rs751515113 0.00002
NM_152618.3(BBS12):c.1830A>G (p.Ser610=) rs528535207 0.00002
NM_152618.3(BBS12):c.1845C>G (p.Ala615=) rs773424236 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366 0.00002
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440 0.00002
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala) rs746565072 0.00002
NM_152618.3(BBS12):c.879A>G (p.Gln293=) rs981575853 0.00002
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1064G>A (p.Arg355Gln) rs1474900361 0.00001
NM_152618.3(BBS12):c.1074C>T (p.Leu358=) rs1162225747 0.00001
NM_152618.3(BBS12):c.1085A>G (p.Asp362Gly) rs1800908966 0.00001
NM_152618.3(BBS12):c.1089C>A (p.Leu363=) rs745647149 0.00001
NM_152618.3(BBS12):c.1107C>T (p.His369=) rs375244084 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile) rs538077275 0.00001
NM_152618.3(BBS12):c.1299A>G (p.Val433=) rs764582469 0.00001
NM_152618.3(BBS12):c.1302C>T (p.Ile434=) rs773214415 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1425A>G (p.Arg475=) rs757311921 0.00001
NM_152618.3(BBS12):c.1464C>T (p.Ile488=) rs907927925 0.00001
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val) rs775189952 0.00001
NM_152618.3(BBS12):c.1490T>C (p.Ile497Thr) rs754049744 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1512C>T (p.Leu504=) rs777299324 0.00001
NM_152618.3(BBS12):c.1521A>G (p.Pro507=) rs778636035 0.00001
NM_152618.3(BBS12):c.1554G>A (p.Arg518=) rs769108774 0.00001
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493 0.00001
NM_152618.3(BBS12):c.1573C>T (p.Arg525Cys) rs760420127 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.1623A>T (p.Ala541=) rs368003653 0.00001
NM_152618.3(BBS12):c.1658T>A (p.Leu553His) rs753004315 0.00001
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser) rs1800929603 0.00001
NM_152618.3(BBS12):c.1686C>A (p.Asn562Lys) rs778686947 0.00001
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu) rs767882942 0.00001
NM_152618.3(BBS12):c.1809A>G (p.Leu603=) rs141393809 0.00001
NM_152618.3(BBS12):c.1823A>G (p.Asn608Ser) rs184225705 0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala) rs771057055 0.00001
NM_152618.3(BBS12):c.1883A>G (p.Asp628Gly) rs758135703 0.00001
NM_152618.3(BBS12):c.1884C>T (p.Asp628=) rs1463043869 0.00001
NM_152618.3(BBS12):c.1899A>G (p.Ser633=) rs892531107 0.00001
NM_152618.3(BBS12):c.18A>G (p.Arg6=) rs373705066 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.1935T>G (p.Ser645Arg) rs905750251 0.00001
NM_152618.3(BBS12):c.1998T>C (p.Val666=) rs1480476254 0.00001
NM_152618.3(BBS12):c.2001A>G (p.Thr667=) rs539331301 0.00001
NM_152618.3(BBS12):c.2016G>A (p.Ala672=) rs186713451 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.2115G>T (p.Thr705=) rs1578492538 0.00001
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala) rs759180956 0.00001
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487 0.00001
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987 0.00001
NM_152618.3(BBS12):c.339A>T (p.Val113=) rs1180097077 0.00001
NM_152618.3(BBS12):c.34A>C (p.Arg12=) rs1292291520 0.00001
NM_152618.3(BBS12):c.37C>T (p.His13Tyr) rs964582500 0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile) rs375439566 0.00001
NM_152618.3(BBS12):c.438A>G (p.Thr146=) rs747471347 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.495A>G (p.Ser165=) rs973455617 0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val) rs1218692709 0.00001
NM_152618.3(BBS12):c.624A>G (p.Ala208=) rs1423331367 0.00001
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.664dup (p.Ala222fs) rs1800897309 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.715A>T (p.Arg239Trp) rs1800898589 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.765T>C (p.His255=) rs185341959 0.00001
NM_152618.3(BBS12):c.789C>T (p.Tyr263=) rs974173261 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_152618.3(BBS12):c.802T>C (p.Leu268=) rs771195621 0.00001
NM_152618.3(BBS12):c.830A>G (p.His277Arg) rs1456373861 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter) rs754448484 0.00001
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser) rs1399257163 0.00001
NM_152618.3(BBS12):c.933C>T (p.Asp311=) rs777668587 0.00001
NM_152618.3(BBS12):c.942A>G (p.Arg314=) rs1800904511 0.00001
NC_000004.12:g.(?_122741883)_(122744035_?)del
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys) rs1800906037
NM_152618.3(BBS12):c.1002T>C (p.Tyr334=) rs2150736743
NM_152618.3(BBS12):c.1005C>A (p.Ile335=)
NM_152618.3(BBS12):c.1007C>A (p.Thr336Asn)
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009G>A (p.Val337Ile) rs1800906327
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1014G>A (p.Val338=)
NM_152618.3(BBS12):c.1020A>G (p.Val340=)
NM_152618.3(BBS12):c.1020A>T (p.Val340=)
NM_152618.3(BBS12):c.1026T>C (p.Asn342=)
NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del) rs2150735886
NM_152618.3(BBS12):c.1030C>G (p.Pro344Ala)
NM_152618.3(BBS12):c.1036A>T (p.Ile346Phe)
NM_152618.3(BBS12):c.1042G>A (p.Glu348Lys)
NM_152618.3(BBS12):c.1045T>C (p.Leu349=)
NM_152618.3(BBS12):c.1047G>A (p.Leu349=) rs1800907366
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter) rs1375925950
NM_152618.3(BBS12):c.1053T>C (p.Asn351=)
NM_152618.3(BBS12):c.1062G>A (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs) rs2150736842
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083T>A (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.1083T>G (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs) rs2150736854
NM_152618.3(BBS12):c.108C>A (p.Ser36=)
NM_152618.3(BBS12):c.1095G>A (p.Glu365=) rs569907220
NM_152618.3(BBS12):c.1095G>T (p.Glu365Asp)
NM_152618.3(BBS12):c.1098T>C (p.Asn366=) rs2150736872
NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)
NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
NM_152618.3(BBS12):c.1134T>A (p.Ile378=)
NM_152618.3(BBS12):c.1140A>C (p.Thr380=)
NM_152618.3(BBS12):c.1148A>G (p.Asp383Gly) rs1388311562
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1155G>A (p.Met385Ile) rs1800911609
NM_152618.3(BBS12):c.1166A>G (p.Glu389Gly) rs374270431
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1185G>T (p.Leu395=)
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
NM_152618.3(BBS12):c.1193dup (p.Asn398fs) rs2150736986
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
NM_152618.3(BBS12):c.1209G>C (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1213A>C (p.Ile405Leu)
NM_152618.3(BBS12):c.1224G>A (p.Lys408=)
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1227G>C (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1233T>C (p.Leu411=)
NM_152618.3(BBS12):c.1239G>A (p.Leu413=)
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
NM_152618.3(BBS12):c.1251T>C (p.Asn417=)
NM_152618.3(BBS12):c.1254G>T (p.Val418=) rs2150737077
NM_152618.3(BBS12):c.1258G>A (p.Glu420Lys)
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys) rs199596849
NM_152618.3(BBS12):c.1264T>C (p.Leu422=) rs2150737086
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1279A>G (p.Ile427Val)
NM_152618.3(BBS12):c.1281A>G (p.Ile427Met)
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.129A>G (p.Glu43=) rs2150735912
NM_152618.3(BBS12):c.12T>C (p.Ala4=) rs1578489401
NM_152618.3(BBS12):c.1302C>A (p.Ile434=)
NM_152618.3(BBS12):c.1303G>T (p.Gly435Cys)
NM_152618.3(BBS12):c.1305C>T (p.Gly435=)
NM_152618.3(BBS12):c.1310T>C (p.Val437Ala) rs2150737136
NM_152618.3(BBS12):c.1314T>C (p.Asn438=)
NM_152618.3(BBS12):c.1317C>A (p.Gly439=)
NM_152618.3(BBS12):c.1320T>C (p.Ser440=) rs2150737145
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1343C>T (p.Ala448Val)
NM_152618.3(BBS12):c.1345G>A (p.Ala449Thr) rs767887679
NM_152618.3(BBS12):c.1352C>A (p.Ala451Glu) rs2150737180
NM_152618.3(BBS12):c.1356A>G (p.Val452=) rs1264207326
NM_152618.3(BBS12):c.135T>C (p.His45=) rs916863378
NM_152618.3(BBS12):c.1362G>T (p.Val454=) rs1800918797
NM_152618.3(BBS12):c.1365C>A (p.Ala455=) rs1191099924
NM_152618.3(BBS12):c.1368C>T (p.Tyr456=) rs2150737194
NM_152618.3(BBS12):c.1372A>C (p.Thr458Pro)
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1380G>A (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser) rs1800919857
NM_152618.3(BBS12):c.1386A>G (p.Glu462=)
NM_152618.3(BBS12):c.1389T>C (p.Asp463=) rs1578491378
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1393G>T (p.Val465Leu) rs1409837279
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs) rs2150737232
NM_152618.3(BBS12):c.1395G>A (p.Val465=) rs2150737249
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1405G>A (p.Val469Ile) rs756359668
NM_152618.3(BBS12):c.1407C>G (p.Val469=) rs1800921145
NM_152618.3(BBS12):c.1407C>T (p.Val469=)
NM_152618.3(BBS12):c.1411G>T (p.Val471Leu) rs140675688
NM_152618.3(BBS12):c.141T>C (p.Ser47=)
NM_152618.3(BBS12):c.1428C>T (p.Ser476=)
NM_152618.3(BBS12):c.143T>C (p.Val48Ala) rs1800881705
NM_152618.3(BBS12):c.1446A>G (p.Val482=)
NM_152618.3(BBS12):c.1449T>C (p.Asp483=) rs2150737320
NM_152618.3(BBS12):c.1455del (p.Asn485fs) rs2150737331
NM_152618.3(BBS12):c.1459A>C (p.Arg487=) rs772894742
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1461A>G (p.Arg487=)
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs) rs2150737344
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1466C>G (p.Ala489Gly) rs2150737356
NM_152618.3(BBS12):c.1467A>C (p.Ala489=)
NM_152618.3(BBS12):c.1476A>G (p.Leu492=)
NM_152618.3(BBS12):c.147A>G (p.Leu49=)
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1482A>C (p.Thr494=)
NM_152618.3(BBS12):c.1482A>G (p.Thr494=) rs1460811850
NM_152618.3(BBS12):c.1482A>T (p.Thr494=)
NM_152618.3(BBS12):c.1486G>A (p.Gly496Arg)
NM_152618.3(BBS12):c.1487G>C (p.Gly496Ala)
NM_152618.3(BBS12):c.1500T>C (p.Val500=)
NM_152618.3(BBS12):c.1503G>A (p.Thr501=)
NM_152618.3(BBS12):c.150C>T (p.Ile50=)
NM_152618.3(BBS12):c.1513A>G (p.Thr505Ala)
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
NM_152618.3(BBS12):c.1518C>T (p.Asn506=) rs2292494
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1524T>G (p.Val508=)
NM_152618.3(BBS12):c.1527T>C (p.Thr509=)
NM_152618.3(BBS12):c.1528G>A (p.Ala510Thr)
NM_152618.3(BBS12):c.1530A>T (p.Ala510=) rs1261261490
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1542C>A (p.Ile514=)
NM_152618.3(BBS12):c.1548A>G (p.Glu516=) rs2150737441
NM_152618.3(BBS12):c.1549G>A (p.Asp517Asn) rs2150737447
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1563A>G (p.Thr521=)
NM_152618.3(BBS12):c.1569C>G (p.Ala523=)
NM_152618.3(BBS12):c.1569C>T (p.Ala523=) rs1800926454
NM_152618.3(BBS12):c.1573C>A (p.Arg525Ser) rs760420127
NM_152618.3(BBS12):c.1577dup (p.Leu526fs) rs1800926856
NM_152618.3(BBS12):c.1584T>C (p.Tyr528=) rs1200669244
NM_152618.3(BBS12):c.1587T>C (p.Ala529=) rs2150737498
NM_152618.3(BBS12):c.1588C>T (p.Leu530=) rs774541720
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)
NM_152618.3(BBS12):c.1596G>A (p.Glu532=) rs1477880509
NM_152618.3(BBS12):c.1596G>C (p.Glu532Asp) rs1477880509
NM_152618.3(BBS12):c.1604T>C (p.Val535Ala)
NM_152618.3(BBS12):c.1605C>A (p.Val535=)
NM_152618.3(BBS12):c.1605C>G (p.Val535=)
NM_152618.3(BBS12):c.1606T>C (p.Phe536Leu)
NM_152618.3(BBS12):c.1611T>C (p.Leu537=) rs536542331
NM_152618.3(BBS12):c.1614A>G (p.Gly538=)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
NM_152618.3(BBS12):c.1617T>G (p.Gly539=) rs1332032760
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1620T>A (p.Gly540=) rs1335150440
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys) rs1800928868
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.1638T>C (p.Cys546=) rs2150737570
NM_152618.3(BBS12):c.163A>C (p.Arg55=) rs765761292
NM_152618.3(BBS12):c.1652A>T (p.His551Leu) rs1174030927
NM_152618.3(BBS12):c.1653T>C (p.His551=) rs1800929267
NM_152618.3(BBS12):c.1653T>G (p.His551Gln) rs1800929267
NM_152618.3(BBS12):c.1658T>C (p.Leu553Pro)
NM_152618.3(BBS12):c.165G>A (p.Arg55=) rs1160982211
NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1668A>G (p.Gln556=) rs2150737604
NM_152618.3(BBS12):c.1671T>G (p.Ser557=)
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1673T>A (p.Leu558Gln) rs2150737612
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1687C>G (p.His563Asp)
NM_152618.3(BBS12):c.168del (p.Glu58fs)
NM_152618.3(BBS12):c.1695C>T (p.Cys565=)
NM_152618.3(BBS12):c.1696T>C (p.Ser566Pro)
NM_152618.3(BBS12):c.1698A>C (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>T (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.16A>C (p.Arg6=)
NM_152618.3(BBS12):c.1702T>C (p.Trp568Arg)
NM_152618.3(BBS12):c.1705del (p.Leu569fs) rs2150737655
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)
NM_152618.3(BBS12):c.1716T>C (p.Thr572=) rs1578491962
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter) rs2150737680
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1731T>C (p.Ala577=)
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter) rs1800931751
NM_152618.3(BBS12):c.1742C>T (p.Ala581Val) rs2150737702
NM_152618.3(BBS12):c.1756A>G (p.Thr586Ala)
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
NM_152618.3(BBS12):c.1761G>C (p.Val587=) rs2150737711
NM_152618.3(BBS12):c.1764T>A (p.Leu588=)
NM_152618.3(BBS12):c.1764T>C (p.Leu588=) rs2150737718
NM_152618.3(BBS12):c.1773G>A (p.Leu591=)
NM_152618.3(BBS12):c.1779T>C (p.Asn593=)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1793A>G (p.Tyr598Cys)
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1811A>G (p.Tyr604Cys)
NM_152618.3(BBS12):c.1812T>C (p.Tyr604=) rs1560708733
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs) rs764074545
NM_152618.3(BBS12):c.1815C>T (p.Asn605=) rs779671886
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
NM_152618.3(BBS12):c.1817C>G (p.Thr606Ser)
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter) rs1800933874
NM_152618.3(BBS12):c.1830A>C (p.Ser610=) rs528535207
NM_152618.3(BBS12):c.1840G>C (p.Glu614Gln) rs1800934088
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp) rs17857451
NM_152618.3(BBS12):c.1851A>G (p.Thr617=)
NM_152618.3(BBS12):c.1853A>G (p.Tyr618Cys)
NM_152618.3(BBS12):c.1855A>G (p.Ile619Val)
NM_152618.3(BBS12):c.1857T>C (p.Ile619=)
NM_152618.3(BBS12):c.1861C>T (p.His621Tyr) rs1800935119
NM_152618.3(BBS12):c.1864C>G (p.His622Asp)
NM_152618.3(BBS12):c.1878C>A (p.Ala626=) rs1800935621
NM_152618.3(BBS12):c.1887T>C (p.Ser629=)
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.1899A>T (p.Ser633=) rs892531107
NM_152618.3(BBS12):c.189C>T (p.Thr63=) rs2150735963
NM_152618.3(BBS12):c.189del (p.Ser64fs) rs2150735961
NM_152618.3(BBS12):c.1902T>C (p.Ser634=) rs2150737878
NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1935T>C (p.Ser645=)
NM_152618.3(BBS12):c.1936A>G (p.Arg646Gly)
NM_152618.3(BBS12):c.1945A>T (p.Asn649Tyr) rs2150737920
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.1950A>G (p.Ser650=)
NM_152618.3(BBS12):c.1951G>A (p.Asp651Asn)
NM_152618.3(BBS12):c.1965A>G (p.Lys655=) rs1223815928
NM_152618.3(BBS12):c.1966C>A (p.Leu656Met) rs1800940804
NM_152618.3(BBS12):c.1966C>T (p.Leu656=)
NM_152618.3(BBS12):c.1970A>C (p.Glu657Ala) rs1800940912
NM_152618.3(BBS12):c.1980G>T (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.1989T>C (p.Tyr663=) rs2150737974
NM_152618.3(BBS12):c.1992C>T (p.Asp664=) rs1553941594
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.2004A>C (p.Pro668=)
NM_152618.3(BBS12):c.2004A>G (p.Pro668=) rs2150738003
NM_152618.3(BBS12):c.2007G>A (p.Lys669=)
NM_152618.3(BBS12):c.2010T>A (p.Ile670=)
NM_152618.3(BBS12):c.2013G>A (p.Glu671=) rs777175466
NM_152618.3(BBS12):c.2019G>T (p.Trp673Cys)
NM_152618.3(BBS12):c.201A>T (p.Gly67=)
NM_152618.3(BBS12):c.2022C>T (p.Arg674=) rs2150738042
NM_152618.3(BBS12):c.2028A>G (p.Ala676=)
NM_152618.3(BBS12):c.2029T>C (p.Leu677=) rs1578492416
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
NM_152618.3(BBS12):c.2037A>C (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2037A>G (p.Leu679=) rs1553941612
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2038_2039delinsAA (p.Val680Lys)
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
NM_152618.3(BBS12):c.2044T>C (p.Leu682=)
NM_152618.3(BBS12):c.2045T>C (p.Leu682Ser) rs2150738089
NM_152618.3(BBS12):c.2046A>G (p.Leu682=) rs2150738093
NM_152618.3(BBS12):c.2049A>G (p.Val683=) rs2150738097
NM_152618.3(BBS12):c.204A>G (p.Gln68=) rs2150735975
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2061C>T (p.Asp687=)
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly) rs1337705311
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.2079A>G (p.Gly693=) rs1166099987
NM_152618.3(BBS12):c.2082T>C (p.His694=)
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
NM_152618.3(BBS12):c.2096T>A (p.Ile699Lys) rs762266326
NM_152618.3(BBS12):c.2097A>C (p.Ile699=)
NM_152618.3(BBS12):c.2099A>G (p.Asn700Ser) rs1800945725
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
NM_152618.3(BBS12):c.2115G>A (p.Thr705=)
NM_152618.3(BBS12):c.2117G>A (p.Gly706Asp) rs759180956
NM_152618.3(BBS12):c.2126T>G (p.Phe709Cys)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.21C>A (p.Val7=) rs754702110
NM_152618.3(BBS12):c.222T>G (p.Val74=) rs778792181
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.227C>T (p.Ala76Val)
NM_152618.3(BBS12):c.228A>G (p.Ala76=)
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)
NM_152618.3(BBS12):c.231A>G (p.Gln77=) rs1232888793
NM_152618.3(BBS12):c.234C>T (p.Asn78=) rs2150736009
NM_152618.3(BBS12):c.240A>G (p.Thr80=)
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
NM_152618.3(BBS12):c.249T>C (p.Thr83=) rs2150736023
NM_152618.3(BBS12):c.259A>G (p.Thr87Ala)
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270T>C (p.Phe90=)
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.277G>A (p.Gly93Ser)
NM_152618.3(BBS12):c.27_30del (p.Asn9fs) rs2150735761
NM_152618.3(BBS12):c.291T>C (p.Ser97=) rs2150736048
NM_152618.3(BBS12):c.294A>G (p.Ala98=)
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.310C>T (p.His104Tyr) rs1472737770
NM_152618.3(BBS12):c.313C>T (p.Leu105Phe)
NM_152618.3(BBS12):c.317G>T (p.Gly106Val)
NM_152618.3(BBS12):c.318T>C (p.Gly106=) rs1578489832
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.336A>G (p.Ile112Met)
NM_152618.3(BBS12):c.347T>A (p.Met116Lys)
NM_152618.3(BBS12):c.351A>G (p.Ser117=)
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp) rs2150736114
NM_152618.3(BBS12):c.366T>C (p.Phe122=) rs907426686
NM_152618.3(BBS12):c.368G>A (p.Cys123Tyr)
NM_152618.3(BBS12):c.381A>G (p.Val127=)
NM_152618.3(BBS12):c.388C>A (p.Leu130Ile)
NM_152618.3(BBS12):c.396A>C (p.Val132=)
NM_152618.3(BBS12):c.396A>G (p.Val132=)
NM_152618.3(BBS12):c.398del (p.Pro133fs) rs750185673
NM_152618.3(BBS12):c.400G>T (p.Val134Phe) rs1467415217
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
NM_152618.3(BBS12):c.422dup (p.Met141fs) rs1800890010
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.427del (p.Ser143fs)
NM_152618.3(BBS12):c.428_429delinsAT (p.Ser143Asn)
NM_152618.3(BBS12):c.42G>A (p.Met14Ile)
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu) rs1800890314
NM_152618.3(BBS12):c.436A>T (p.Thr146Ser) rs1800890438
NM_152618.3(BBS12):c.437C>T (p.Thr146Ile) rs2150736213
NM_152618.3(BBS12):c.450T>G (p.Leu150=) rs2150736218
NM_152618.3(BBS12):c.469_470del (p.Leu157fs) rs2150736228
NM_152618.3(BBS12):c.476del (p.Pro159fs)
NM_152618.3(BBS12):c.489C>G (p.Val163=)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.501T>C (p.Thr167=) rs771669469
NM_152618.3(BBS12):c.507G>A (p.Leu169=)
NM_152618.3(BBS12):c.513G>A (p.Glu171=)
NM_152618.3(BBS12):c.516A>G (p.Glu172=)
NM_152618.3(BBS12):c.517T>C (p.Leu173=) rs2150736262
NM_152618.3(BBS12):c.521A>G (p.His174Arg)
NM_152618.3(BBS12):c.522T>C (p.His174=)
NM_152618.3(BBS12):c.523G>T (p.Gly175Cys)
NM_152618.3(BBS12):c.525T>C (p.Gly175=) rs2150736282
NM_152618.3(BBS12):c.547A>C (p.Thr183Pro)
NM_152618.3(BBS12):c.54A>G (p.Gln18=)
NM_152618.3(BBS12):c.550C>T (p.Leu184=) rs1800894066
NM_152618.3(BBS12):c.552G>A (p.Leu184=)
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg) rs994493028
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
NM_152618.3(BBS12):c.576A>G (p.Arg192=)
NM_152618.3(BBS12):c.577C>A (p.Pro193Thr) rs1246383248
NM_152618.3(BBS12):c.579T>C (p.Pro193=) rs1354832386
NM_152618.3(BBS12):c.57T>G (p.Leu19=) rs2150735813
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
NM_152618.3(BBS12):c.588A>T (p.Ser196=) rs1214671198
NM_152618.3(BBS12):c.58del (p.Ser20fs) rs2150735809
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer) rs1560706958
NM_152618.3(BBS12):c.626A>G (p.Asp209Gly) rs1472424724
NM_152618.3(BBS12):c.642A>T (p.Arg214=) rs1297157123
NM_152618.3(BBS12):c.648G>A (p.Leu216=)
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
NM_152618.3(BBS12):c.660G>C (p.Leu220=) rs768514500
NM_152618.3(BBS12):c.663T>G (p.Leu221=) rs2150736396
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.672C>A (p.Thr224=)
NM_152618.3(BBS12):c.681A>G (p.Arg227=) rs2150736417
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.706C>T (p.His236Tyr)
NM_152618.3(BBS12):c.708T>C (p.His236=)
NM_152618.3(BBS12):c.709T>C (p.Phe237Leu)
NM_152618.3(BBS12):c.714T>C (p.Asn238=)
NM_152618.3(BBS12):c.715A>C (p.Arg239=) rs1800898589
NM_152618.3(BBS12):c.719C>T (p.Thr240Ile) rs140537219
NM_152618.3(BBS12):c.720A>G (p.Thr240=)
NM_152618.3(BBS12):c.724A>G (p.Asn242Asp) rs2150736461
NM_152618.3(BBS12):c.725A>G (p.Asn242Ser) rs2150736463
NM_152618.3(BBS12):c.729T>C (p.Thr243=)
NM_152618.3(BBS12):c.72A>G (p.Glu24=) rs2150735852
NM_152618.3(BBS12):c.73A>G (p.Thr25Ala) rs2150735856
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.745C>T (p.Pro249Ser) rs758191621
NM_152618.3(BBS12):c.753A>G (p.Gly251=) rs2150736488
NM_152618.3(BBS12):c.756T>C (p.Phe252=)
NM_152618.3(BBS12):c.758A>C (p.Gln253Pro)
NM_152618.3(BBS12):c.758A>G (p.Gln253Arg)
NM_152618.3(BBS12):c.75A>C (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.763C>G (p.His255Asp) rs2150736491
NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)
NM_152618.3(BBS12):c.771A>T (p.Thr257=)
NM_152618.3(BBS12):c.774T>G (p.Ala258=)
NM_152618.3(BBS12):c.780C>T (p.His260=)
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.798T>C (p.Asn266=)
NM_152618.3(BBS12):c.805G>A (p.Val269Ile) rs2150736540
NM_152618.3(BBS12):c.80del (p.Arg27fs)
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.840C>T (p.His280=) rs2150736581
NM_152618.3(BBS12):c.847A>G (p.Met283Val) rs1173472896
NM_152618.3(BBS12):c.852G>A (p.Lys284=)
NM_152618.3(BBS12):c.854TAG[1] (p.Val286del)
NM_152618.3(BBS12):c.855A>G (p.Leu285=)
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.863A>C (p.Glu288Ala)
NM_152618.3(BBS12):c.867_874del (p.Val290fs) rs2150736605
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.874C>T (p.Leu292=)
NM_152618.3(BBS12):c.87C>T (p.Phe29=) rs2150735866
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
NM_152618.3(BBS12):c.890_893del (p.Ala297fs) rs2150736616
NM_152618.3(BBS12):c.891T>C (p.Ala297=) rs2150736617
NM_152618.3(BBS12):c.896T>A (p.Val299Glu)
NM_152618.3(BBS12):c.900A>G (p.Gln300=)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.906C>T (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.911G>A (p.Cys304Tyr)
NM_152618.3(BBS12):c.911G>C (p.Cys304Ser)
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.925_926del (p.Met309fs) rs1800904262
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly) rs749107412
NM_152618.3(BBS12):c.948C>T (p.Phe316=)
NM_152618.3(BBS12):c.951T>C (p.Thr317=)
NM_152618.3(BBS12):c.95del (p.Pro32fs)
NM_152618.3(BBS12):c.960A>G (p.Leu320=)
NM_152618.3(BBS12):c.961C>G (p.Pro321Ala) rs2150736703
NM_152618.3(BBS12):c.96A>G (p.Pro32=)
NM_152618.3(BBS12):c.975A>G (p.Glu325=) rs2150736709
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_152618.3(BBS12):c.978T>G (p.Thr326=)
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)
NM_152618.3(BBS12):c.97C>T (p.Leu33=) rs1011665825
NM_152618.3(BBS12):c.981T>G (p.Ser327=) rs2150736715
NM_152618.3(BBS12):c.990T>C (p.Val330=)
NM_152618.3(BBS12):c.994C>G (p.Pro332Ala)
NM_152618.3(BBS12):c.999A>T (p.Gly333=)
NM_152618.3(BBS12):c.99A>G (p.Leu33=) rs770875217

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