|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
|
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)
|
rs1555048530
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
|
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)
|
rs1555050401
|
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
|
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)
|
rs1555050422
|
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
|
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)
|
rs1450045618
|
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
|
NM_024649.5(BBS1):c.432+9_432+12del
|
rs1555046629
|
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
|
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)
|
rs1555048487
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|