NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
|
rs1331493457
|
0.00001
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
NC_000011.9:g.(?_72083949)_(72084078_?)del
|
|
|
NC_000011.9:g.(?_72141336)_(72145518_?)dup
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu)
|
rs2135487981
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
|
rs1949509947
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
|
rs1949489503
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
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|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
NM_030813.6(CLPB):c.675C>A (p.His225Gln)
|
rs2135658006
|
|
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
|
|
|