NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_000282.4(PCCA):c.1644-31A>G
|
rs9518061
|
0.66246
|
NM_000532.5(PCCB):c.967-46A>G
|
rs9833162
|
0.36992
|
NM_000282.4(PCCA):c.1845+10585T>C
|
rs2760311
|
0.35905
|
NM_000282.4(PCCA):c.106-93G>A
|
rs2184382
|
0.22830
|
NM_000282.4(PCCA):c.414+88A>G
|
rs9585365
|
0.16939
|
NM_000282.4(PCCA):c.468+51G>A
|
rs35055557
|
0.16099
|
NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
NM_000282.4(PCCA):c.637+102A>G
|
rs539158
|
0.14245
|
NM_000282.4(PCCA):c.1846-104C>G
|
rs1283292
|
0.12185
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_001195087.2(GGACT):c.*1904_*1907del
|
rs200007489
|
0.01517
|
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)
|
rs16957356
|
0.01499
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_001195087.2(GGACT):c.*1849G>A
|
rs41281122
|
0.00704
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_000532.4(PCCB):c.-37C>T
|
rs145734157
|
0.00591
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_001195087.2(GGACT):c.*1805A>C
|
rs113356477
|
0.00260
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_000282.4(PCCA):c.1257G>A (p.Gln419=)
|
rs147839487
|
0.00201
|
NM_000532.5(PCCB):c.*44C>T
|
rs201452852
|
0.00197
|
NM_000532.5(PCCB):c.373-1292C>T
|
rs117604575
|
0.00188
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
NM_000532.5(PCCB):c.1299+9C>A
|
rs60968242
|
0.00137
|
NM_001195087.2(GGACT):c.*1774G>C
|
rs41281124
|
0.00137
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
NM_000532.5(PCCB):c.-34G>A
|
rs372649775
|
0.00074
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000532.5(PCCB):c.*91C>A
|
rs115533065
|
0.00066
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_000532.5(PCCB):c.1485T>G (p.Pro495=)
|
rs151094095
|
0.00039
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_000532.5(PCCB):c.1091-16A>C
|
rs534160449
|
0.00027
|
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
|
rs140082586
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_000282.4(PCCA):c.-20G>A
|
rs374941593
|
0.00021
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
0.00021
|
NM_001195087.2(GGACT):c.*1930T>G
|
rs770148620
|
0.00021
|
NM_000282.4(PCCA):c.415-10C>T
|
rs376120578
|
0.00020
|
NM_000282.4(PCCA):c.1131T>G (p.Ala377=)
|
rs754991015
|
0.00019
|
NM_000532.5(PCCB):c.510G>A (p.Val170=)
|
rs1212025973
|
0.00019
|
NM_001195087.2(GGACT):c.*1848C>T
|
rs886049929
|
0.00019
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_000282.3(PCCA):c.-60C>T
|
rs778039561
|
0.00014
|
NM_000282.4(PCCA):c.231+16G>A
|
rs562491059
|
0.00014
|
NM_000282.4(PCCA):c.914+10C>G
|
rs774298513
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000282.4(PCCA):c.24A>G (p.Thr8=)
|
rs117397004
|
0.00013
|
NM_000282.4(PCCA):c.862A>C (p.Arg288=)
|
rs121964957
|
0.00013
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
NM_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
0.00011
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
NM_000282.4(PCCA):c.2016C>T (p.Ala672=)
|
rs773033856
|
0.00010
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00010
|
NM_000282.4(PCCA):c.468+11A>C
|
rs187554010
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000532.5(PCCB):c.1299+13T>C
|
rs185352554
|
0.00010
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
NM_000282.4(PCCA):c.2169G>A (p.Leu723=)
|
rs371113202
|
0.00009
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_000532.5(PCCB):c.373-18T>C
|
rs775972133
|
0.00009
|
NM_000532.5(PCCB):c.885-4A>C
|
rs535943678
|
0.00009
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
NM_000282.4(PCCA):c.1540+20T>C
|
rs754203055
|
0.00008
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
NM_000282.4(PCCA):c.638-10C>T
|
rs763390049
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
0.00007
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
NM_000282.4(PCCA):c.1350A>G (p.Ser450=)
|
rs755614638
|
0.00006
|
NM_000282.4(PCCA):c.1515C>T (p.Ser505=)
|
rs201162791
|
0.00006
|
NM_000282.4(PCCA):c.1713C>T (p.Thr571=)
|
rs778536273
|
0.00006
|
NM_000282.4(PCCA):c.1900-15T>G
|
rs769815745
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000282.4(PCCA):c.483C>T (p.Val161=)
|
rs370402818
|
0.00006
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00006
|
NM_000282.4(PCCA):c.716+19T>C
|
rs201320992
|
0.00006
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_000532.5(PCCB):c.544-10G>A
|
rs759150582
|
0.00005
|
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
|
rs148056730
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000282.4(PCCA):c.1176C>T (p.Asn392=)
|
rs138597181
|
0.00004
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
NM_000282.4(PCCA):c.184-6C>T
|
rs542777393
|
0.00004
|
NM_000282.4(PCCA):c.2025C>G (p.Val675=)
|
rs891946343
|
0.00004
|
NM_000282.4(PCCA):c.2040+11T>C
|
rs200641726
|
0.00004
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
|
rs764005205
|
0.00004
|
NM_000282.4(PCCA):c.525C>T (p.Gly175=)
|
rs151168308
|
0.00004
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
NM_000282.4(PCCA):c.768T>C (p.Asp256=)
|
rs1239656926
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
NM_000532.5(PCCB):c.1498+10T>G
|
rs777201996
|
0.00004
|
NM_000532.5(PCCB):c.1499-20C>T
|
rs183824739
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
NM_000532.5(PCCB):c.183+17C>T
|
rs776965589
|
0.00004
|
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
|
rs150449954
|
0.00004
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
NM_000532.5(PCCB):c.372+17A>G
|
rs192106664
|
0.00004
|
NM_000532.5(PCCB):c.402A>G (p.Ser134=)
|
rs200988668
|
0.00004
|
NM_000532.5(PCCB):c.51G>A (p.Leu17=)
|
rs1262464904
|
0.00004
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
NM_000532.5(PCCB):c.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
NM_001195087.2(GGACT):c.*1741A>C
|
rs1046827974
|
0.00004
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.33G>T (p.Leu11=)
|
rs922002208
|
0.00003
|
NM_000282.4(PCCA):c.414+19A>G
|
rs531469612
|
0.00003
|
NM_000282.4(PCCA):c.415-9A>G
|
rs1057520932
|
0.00003
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
NM_000282.4(PCCA):c.915-18A>T
|
rs780272314
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
0.00003
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
NM_000532.5(PCCB):c.372+15C>T
|
rs370726053
|
0.00003
|
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
|
rs749989578
|
0.00003
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000532.5(PCCB):c.654+12G>T
|
rs770141659
|
0.00003
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
|
rs139600424
|
0.00003
|
NM_000532.5(PCCB):c.967-14A>G
|
rs1011978513
|
0.00003
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
NM_000282.4(PCCA):c.1285-4C>T
|
rs372262089
|
0.00002
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
NM_000282.4(PCCA):c.1540+11A>G
|
rs374671328
|
0.00002
|
NM_000282.4(PCCA):c.1693T>C (p.Leu565=)
|
rs767365284
|
0.00002
|
NM_000282.4(PCCA):c.1747-8dup
|
rs753595587
|
0.00002
|
NM_000282.4(PCCA):c.183+18A>G
|
rs746021444
|
0.00002
|
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
|
rs780042764
|
0.00002
|
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
|
rs765451633
|
0.00002
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.318G>A (p.Ala106=)
|
rs752769607
|
0.00002
|
NM_000282.4(PCCA):c.469-6C>T
|
rs1411689584
|
0.00002
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
0.00002
|
NM_000282.4(PCCA):c.717-4A>G
|
rs1046922650
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
|
rs200311920
|
0.00002
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
NM_000532.5(PCCB):c.-35G>A
|
rs886058016
|
0.00002
|
NM_000532.5(PCCB):c.1090+18T>C
|
rs775309894
|
0.00002
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.1499-14C>T
|
rs369168852
|
0.00002
|
NM_000532.5(PCCB):c.24G>T (p.Ala8=)
|
rs1057523611
|
0.00002
|
NM_000532.5(PCCB):c.30C>T (p.Val10=)
|
rs754303318
|
0.00002
|
NM_000532.5(PCCB):c.318C>T (p.Ser106=)
|
rs767388070
|
0.00002
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000532.5(PCCB):c.939C>T (p.Ala313=)
|
rs369008776
|
0.00002
|
NM_000532.5(PCCB):c.945C>T (p.Asn315=)
|
rs766185451
|
0.00002
|
NM_000532.5(PCCB):c.996C>T (p.Ile332=)
|
rs773854246
|
0.00002
|
NM_000282.4(PCCA):c.105+16G>A
|
rs2046038909
|
0.00001
|
NM_000282.4(PCCA):c.106-10T>C
|
rs770940740
|
0.00001
|
NM_000282.4(PCCA):c.1065+10A>G
|
rs1428223017
|
0.00001
|
NM_000282.4(PCCA):c.1065+12T>A
|
rs1013549378
|
0.00001
|
NM_000282.4(PCCA):c.1065+15T>C
|
rs762540382
|
0.00001
|
NM_000282.4(PCCA):c.1066-13C>T
|
rs372186963
|
0.00001
|
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
|
rs761295534
|
0.00001
|
NM_000282.4(PCCA):c.1089C>T (p.Cys363=)
|
rs766934571
|
0.00001
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
|
rs1165198558
|
0.00001
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1269G>A (p.Pro423=)
|
rs778642206
|
0.00001
|
NM_000282.4(PCCA):c.1284+17T>G
|
rs531058073
|
0.00001
|
NM_000282.4(PCCA):c.1285-10T>C
|
rs1186262441
|
0.00001
|
NM_000282.4(PCCA):c.1285-15C>T
|
rs779554504
|
0.00001
|
NM_000282.4(PCCA):c.1285-20T>C
|
rs1227568974
|
0.00001
|
NM_000282.4(PCCA):c.1285-5C>T
|
rs773331326
|
0.00001
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
|
rs759257021
|
0.00001
|
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
|
rs934310912
|
0.00001
|
NM_000282.4(PCCA):c.1353+16C>T
|
rs573543059
|
0.00001
|
NM_000282.4(PCCA):c.1353+18A>G
|
rs369105635
|
0.00001
|
NM_000282.4(PCCA):c.1354-10T>C
|
rs750041912
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.1437A>G (p.Thr479=)
|
rs1224037636
|
0.00001
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys)
|
rs753955254
|
0.00001
|
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
|
rs1214787896
|
0.00001
|
NM_000282.4(PCCA):c.1540+15A>C
|
rs372830595
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
NM_000282.4(PCCA):c.1541-15A>G
|
rs748759552
|
0.00001
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
NM_000282.4(PCCA):c.1764G>A (p.Ser588=)
|
rs772158996
|
0.00001
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
NM_000282.4(PCCA):c.1785G>A (p.Thr595=)
|
rs766312551
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
|
rs761681712
|
0.00001
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
NM_000282.4(PCCA):c.180A>G (p.Glu60=)
|
rs1003935202
|
0.00001
|
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
|
rs763647197
|
0.00001
|
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
|
rs1008553303
|
0.00001
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000282.4(PCCA):c.184-5T>C
|
rs780230606
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.1899+7A>G
|
rs950344042
|
0.00001
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
|
rs1357780167
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2001C>T (p.Pro667=)
|
rs778845861
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2010G>A (p.Val670=)
|
rs1343608733
|
0.00001
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.2118+10T>C
|
rs1318351775
|
0.00001
|
NM_000282.4(PCCA):c.2119-5T>G
|
rs752895575
|
0.00001
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
|
rs781085655
|
0.00001
|
NM_000282.4(PCCA):c.2173G>A (p.Val725Met)
|
rs747593363
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.231+8G>A
|
rs199996461
|
0.00001
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.30G>T (p.Pro10=)
|
rs1206173421
|
0.00001
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
NM_000282.4(PCCA):c.405G>A (p.Arg135=)
|
rs996873957
|
0.00001
|
NM_000282.4(PCCA):c.414+7C>G
|
rs1051098122
|
0.00001
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.453A>G (p.Glu151=)
|
rs897110640
|
0.00001
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
|
rs1442819667
|
0.00001
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
|
rs747026505
|
0.00001
|
NM_000282.4(PCCA):c.601-13C>T
|
rs1367838556
|
0.00001
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
NM_000282.4(PCCA):c.637+18C>A
|
rs758676556
|
0.00001
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
NM_000282.4(PCCA):c.717-8T>C
|
rs1367148068
|
0.00001
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
NM_000282.4(PCCA):c.819+19C>G
|
rs1566819775
|
0.00001
|
NM_000282.4(PCCA):c.819+20T>C
|
rs759539188
|
0.00001
|
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
|
rs1357373616
|
0.00001
|
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
|
rs778427348
|
0.00001
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
|
rs771222501
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
NM_000282.4(PCCA):c.987T>C (p.Tyr329=)
|
rs778986379
|
0.00001
|
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
|
rs769437282
|
0.00001
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
NM_000532.5(PCCB):c.1091-14C>A
|
rs1053805085
|
0.00001
|
NM_000532.5(PCCB):c.1091-6T>C
|
rs778146041
|
0.00001
|
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
|
rs779828803
|
0.00001
|
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
|
rs768328410
|
0.00001
|
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
|
rs1025062139
|
0.00001
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
NM_000532.5(PCCB):c.1173T>C (p.Phe391=)
|
rs751750136
|
0.00001
|
NM_000532.5(PCCB):c.1198+19G>A
|
rs923951408
|
0.00001
|
NM_000532.5(PCCB):c.1199-4C>T
|
rs1361484856
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1224C>T (p.Ile408=)
|
rs773701247
|
0.00001
|
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
|
rs781546348
|
0.00001
|
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
|
rs770279302
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
NM_000532.5(PCCB):c.1300-11A>G
|
rs200406126
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1344T>C (p.Cys448=)
|
rs1306702510
|
0.00001
|
NM_000532.5(PCCB):c.1368C>T (p.Pro456=)
|
rs776005238
|
0.00001
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile)
|
rs796052026
|
0.00001
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
0.00001
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
NM_000532.5(PCCB):c.1401C>T (p.Gly467=)
|
rs142915585
|
0.00001
|
NM_000532.5(PCCB):c.142C>T (p.Leu48=)
|
rs376983709
|
0.00001
|
NM_000532.5(PCCB):c.1431G>A (p.Glu477=)
|
rs989893902
|
0.00001
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.1499-6C>T
|
rs769854818
|
0.00001
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
|
rs767287287
|
0.00001
|
NM_000532.5(PCCB):c.168C>T (p.Asp56=)
|
rs759008477
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
NM_000532.5(PCCB):c.183+7C>G
|
rs1039491317
|
0.00001
|
NM_000532.5(PCCB):c.263A>G (p.His88Arg)
|
rs771333669
|
0.00001
|
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
|
rs1402404407
|
0.00001
|
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
|
rs768256081
|
0.00001
|
NM_000532.5(PCCB):c.303+13A>G
|
rs533887723
|
0.00001
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
NM_000532.5(PCCB):c.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.373-13A>G
|
rs1559997795
|
0.00001
|
NM_000532.5(PCCB):c.373-7T>G
|
rs995479007
|
0.00001
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
NM_000532.5(PCCB):c.410A>G (p.His137Arg)
|
rs1391142709
|
0.00001
|
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.544-4G>A
|
rs1390317726
|
0.00001
|
NM_000532.5(PCCB):c.54G>A (p.Ala18=)
|
rs1343618692
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
NM_000532.5(PCCB):c.597A>G (p.Pro199=)
|
rs773799305
|
0.00001
|
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
|
rs1157323383
|
0.00001
|
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.630A>G (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.63C>G (p.Leu21=)
|
rs1941478618
|
0.00001
|
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
|
rs1250882565
|
0.00001
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
0.00001
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
NM_000532.5(PCCB):c.723G>A (p.Gln241=)
|
rs751695055
|
0.00001
|
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
|
rs752940167
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NM_000532.5(PCCB):c.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
0.00001
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
NM_000532.5(PCCB):c.75C>T (p.Val25=)
|
rs761030422
|
0.00001
|
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)
|
rs529945350
|
0.00001
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
|
rs759508806
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.825dup (p.Asn276fs)
|
rs748393514
|
0.00001
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000532.5(PCCB):c.884+14C>T
|
rs372020160
|
0.00001
|
NM_000532.5(PCCB):c.884+15G>A
|
rs374909979
|
0.00001
|
NM_000532.5(PCCB):c.885-7C>T
|
rs1427637783
|
0.00001
|
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
|
rs753285409
|
0.00001
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
NM_000532.5(PCCB):c.966+20G>A
|
rs778065472
|
0.00001
|
NM_000532.5(PCCB):c.966+9C>T
|
rs1325021223
|
0.00001
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
NM_000532.5(PCCB):c.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
NC_000003.11:g.(?_135974688)_(136003251_?)del
|
|
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136035926_?)del
|
|
|
NC_000003.11:g.(?_136012588)_(136035916_?)del
|
|
|
NC_000003.11:g.(?_136016774)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136019862)_(136019963_?)del
|
|
|
NC_000003.12:g.(?_136250366)_(136250568_?)del
|
|
|
NC_000003.12:g.(?_136316921)_(136317084_?)del
|
|
|
NC_000003.12:g.136246220_136254271del
|
|
|
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
|
|
|
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
|
|
|
NC_000013.10:g.(?_100038233)_(103718599_?)dup
|
|
|
NC_000013.10:g.(?_100741259)_(100741489_?)del
|
|
|
NC_000013.10:g.(?_100741375)_(101182420_?)del
|
|
|
NC_000013.10:g.(?_100807213)_(100809614_?)dup
|
|
|
NC_000013.10:g.(?_100807223)_(100809604_?)del
|
|
|
NC_000013.10:g.(?_100861566)_(100861737_?)del
|
|
|
NC_000013.10:g.(?_100861576)_(100955262_?)del
|
|
|
NC_000013.10:g.(?_100888086)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100909829)_(101101579_?)del
|
|
|
NC_000013.10:g.(?_100909839)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100920933)_(100925610_?)del
|
|
|
NC_000013.10:g.(?_100925430)_(100925620_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(100962182_?)dup
|
|
|
NC_000013.10:g.(?_100953694)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(101078005_?)del
|
|
|
NC_000013.10:g.(?_100953704)_(100962172_?)dup
|
|
|
NC_000013.10:g.(?_100971208)_(100992469_?)del
|
|
|
NC_000013.10:g.(?_100982805)_(101020838_?)dup
|
|
|
NC_000013.10:g.(?_100992391)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_101020716)_(101101569_?)del
|
|
|
NC_000013.10:g.(?_101077867)_(101101579_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182420_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182440_?)dup
|
|
|
NC_000013.10:g.(?_101167661)_(101167841_?)del
|
|
|
NC_000013.10:g.(?_101167671)_(101182701_?)del
|
|
|
NC_000013.10:g.(?_101179909)_(101180026_?)del
|
|
|
NC_000013.10:g.(?_101179909)_(101182420_?)del
|
|
|
NC_000013.11:g.(?_100111831)_(100112071_?)del
|
|
|
NC_000013.11:g.(?_100154969)_(100273356_?)del
|
|
|
NC_000013.11:g.(?_100209322)_(100235888_?)del
|
|
|
NC_000013.11:g.(?_100268679)_(100268793_?)del
|
|
|
NC_000013.11:g.(?_100301450)_(100425741_?)del
|
|
|
NC_000013.11:g.(?_100301460)_(100425731_?)del
|
|
|
NC_000013.11:g.(?_100330541)_(100368594_?)del
|
|
|
NC_000013.11:g.(?_100425613)_(100425751_?)del
|
|
|
NC_000013.11:g.(?_100449242)_(100491683_?)del
|
|
|
NC_000013.11:g.(?_100527655)_(100530186_?)del
|
|
|
NC_000013.11:g.(?_100527665)_(100530447_?)del
|
|
|
NM_000282.4(PCCA):c.-4A>C
|
rs2046021682
|
|
NM_000282.4(PCCA):c.-5C>T
|
rs886049926
|
|
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
|
|
|
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
|
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
|
|
|
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
|
rs2152588978
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
NM_000282.4(PCCA):c.1026G>A (p.Lys342=)
|
rs2152589052
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
NM_000282.4(PCCA):c.1042T>C (p.Leu348=)
|
rs2152589147
|
|
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
|
|
|
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
|
rs2063431723
|
|
NM_000282.4(PCCA):c.105+11A>G
|
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
NM_000282.4(PCCA):c.105+1G>C
|
|
|
NM_000282.4(PCCA):c.105+20C>T
|
|
|
NM_000282.4(PCCA):c.105+8G>A
|
|
|
NM_000282.4(PCCA):c.105+9C>T
|
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
NM_000282.4(PCCA):c.106-11T>C
|
|
|
NM_000282.4(PCCA):c.106-12C>A
|
|
|
NM_000282.4(PCCA):c.106-12del
|
rs2152250467
|
|
NM_000282.4(PCCA):c.106-17C>T
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.106-2A>G
|
|
|
NM_000282.4(PCCA):c.106-5del
|
|
|
NM_000282.4(PCCA):c.106-5dup
|
|
|
NM_000282.4(PCCA):c.106-9T>G
|
|
|
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
|
|
|
NM_000282.4(PCCA):c.1065+11C>T
|
|
|
NM_000282.4(PCCA):c.1065+18T>A
|
rs1458093935
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
NM_000282.4(PCCA):c.1065+3AAC[2]
|
rs1467232371
|
|
NM_000282.4(PCCA):c.1065+8C>T
|
|
|
NM_000282.4(PCCA):c.1066-10G>C
|
rs1486164333
|
|
NM_000282.4(PCCA):c.1066-15A>G
|
|
|
NM_000282.4(PCCA):c.1066-4G>T
|
|
|
NM_000282.4(PCCA):c.1066-7C>G
|
|
|
NM_000282.4(PCCA):c.1066-8C>T
|
|
|
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)
|
rs1595202534
|
|
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs)
|
rs2152683826
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
|
rs1595202607
|
|
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
|
rs1328083857
|
|
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
|
|
|
NM_000282.4(PCCA):c.1102G>C (p.Asp368His)
|
rs1555411121
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
|
rs2152683893
|
|
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys)
|
rs1566896430
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
|
|
|
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
|
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr)
|
rs2152684002
|
|
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
|
rs2152684012
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
|
|
|
NM_000282.4(PCCA):c.1179C>A (p.Gly393=)
|
rs1430193054
|
|
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
|
rs1555411216
|
|
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
|
rs1295357399
|
|
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
|
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
|
|
|
NM_000282.4(PCCA):c.1209+10A>G
|
rs764226410
|
|
NM_000282.4(PCCA):c.1209+13G>C
|
|
|
NM_000282.4(PCCA):c.1209+14T>G
|
|
|
NM_000282.4(PCCA):c.1209+18G>A
|
|
|
NM_000282.4(PCCA):c.1209+18G>T
|
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.1209+8G>C
|
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
|
rs2047399572
|
|
NM_000282.4(PCCA):c.1210-14C>T
|
|
|
NM_000282.4(PCCA):c.1210-15C>T
|
|
|
NM_000282.4(PCCA):c.1210-16T>C
|
|
|
NM_000282.4(PCCA):c.1210-19C>T
|
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
NM_000282.4(PCCA):c.1210-4T>C
|
rs1415422969
|
|
NM_000282.4(PCCA):c.1210-9A>T
|
|
|
NM_000282.4(PCCA):c.1212C>T (p.Asp404=)
|
rs2152686072
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
|
rs200874114
|
|
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
|
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
|
rs2152686094
|
|
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
|
|
|
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
|
|
|
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
|
|
|
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
|
rs2066177786
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
|
rs763916930
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
|
|
|
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter)
|
rs2047400320
|
|
NM_000282.4(PCCA):c.1284+10T>G
|
|
|
NM_000282.4(PCCA):c.1284+10dup
|
rs1309984509
|
|
NM_000282.4(PCCA):c.1284+14C>T
|
|
|
NM_000282.4(PCCA):c.1284+18_1284+34del
|
|
|
NM_000282.4(PCCA):c.1284+19A>G
|
rs2066182757
|
|
NM_000282.4(PCCA):c.1284+2dup
|
rs776978090
|
|
NM_000282.4(PCCA):c.1284+7C>A
|
|
|
NM_000282.4(PCCA):c.1285-12_1285-8del
|
rs2066517246
|
|
NM_000282.4(PCCA):c.1285-13_1285-6del
|
rs535982202
|
|
NM_000282.4(PCCA):c.1285-1416A>G
|
rs1362195093
|
|
NM_000282.4(PCCA):c.1285-1417T>C
|
rs1232004179
|
|
NM_000282.4(PCCA):c.1285-14T>C
|
rs1374058554
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
NM_000282.4(PCCA):c.1285-7C>T
|
rs748531448
|
|
NM_000282.4(PCCA):c.1285-7dup
|
rs2066518077
|
|
NM_000282.4(PCCA):c.1285-8dup
|
rs2066517246
|
|
NM_000282.4(PCCA):c.1285-9T>C
|
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
NM_000282.4(PCCA):c.1311A>T (p.Pro437=)
|
rs2152692646
|
|
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
|
rs2152692650
|
|
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
|
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)
|
rs1594090133
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
NM_000282.4(PCCA):c.134_135del (p.Leu45fs)
|
rs879253809
|
|
NM_000282.4(PCCA):c.1353+10A>C
|
rs1595236362
|
|
NM_000282.4(PCCA):c.1353+10A>G
|
rs1595236362
|
|
NM_000282.4(PCCA):c.1353+10del
|
|
|
NM_000282.4(PCCA):c.1353+12T>G
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1353+9_1353+13del
|
|
|
NM_000282.4(PCCA):c.1354-13T>C
|
|
|
NM_000282.4(PCCA):c.1354-14T>G
|
|
|
NM_000282.4(PCCA):c.1354-17T>G
|
|
|
NM_000282.4(PCCA):c.1354-20_1354-17del
|
|
|
NM_000282.4(PCCA):c.1354-3dup
|
|
|
NM_000282.4(PCCA):c.1354-8G>C
|
|
|
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
|
|
|
NM_000282.4(PCCA):c.1362A>C (p.Thr454=)
|
rs765949778
|
|
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
|
|
|
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=)
|
rs1225545034
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
NM_000282.4(PCCA):c.1367G>A (p.Gly456Asp)
|
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
|
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
|
rs2066768313
|
|
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
|
rs2152697440
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
NM_000282.4(PCCA):c.1407A>T (p.Ala469=)
|
rs2152697468
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
NM_000282.4(PCCA):c.1408C>T (p.Leu470=)
|
rs1566911871
|
|
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
|
|
|
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
|
|
|
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
|
|
|
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
|
rs2066770739
|
|
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
|
|
|
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
|
rs1437714151
|
|
NM_000282.4(PCCA):c.141G>T (p.Val47=)
|
|
|
NM_000282.4(PCCA):c.1422T>C (p.Val474=)
|
rs2066771458
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
|
|
|
NM_000282.4(PCCA):c.1429+10A>G
|
|
|
NM_000282.4(PCCA):c.1429+13A>T
|
|
|
NM_000282.4(PCCA):c.1429+13_1429+14del
|
|
|
NM_000282.4(PCCA):c.1429+15T>G
|
|
|
NM_000282.4(PCCA):c.1429+18C>T
|
rs1445188783
|
|
NM_000282.4(PCCA):c.1429+20C>T
|
rs2152697607
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
NM_000282.4(PCCA):c.1430-14C>A
|
|
|
NM_000282.4(PCCA):c.1430-15T>C
|
|
|
NM_000282.4(PCCA):c.1430-16A>G
|
|
|
NM_000282.4(PCCA):c.1430-17T>C
|
|
|
NM_000282.4(PCCA):c.1430-18A>T
|
rs770776146
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
NM_000282.4(PCCA):c.1430-8A>T
|
|
|
NM_000282.4(PCCA):c.1430-9dup
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
|
|
|
NM_000282.4(PCCA):c.1449A>G (p.Ala483=)
|
rs764611115
|
|
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
|
rs752220238
|
|
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter)
|
rs2069404553
|
|
NM_000282.4(PCCA):c.1458A>C (p.Arg486=)
|
rs2152733872
|
|
NM_000282.4(PCCA):c.145del (p.Arg49fs)
|
rs2047402577
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
|
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
|
|
|
NM_000282.4(PCCA):c.1491A>G (p.Gly497=)
|
rs965243149
|
|
NM_000282.4(PCCA):c.1494C>T (p.Asp498=)
|
rs977076579
|
|
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
|
|
|
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
|
|
|
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=)
|
rs2152734002
|
|
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
NM_000282.4(PCCA):c.1539del (p.Gly514fs)
|
rs1566945996
|
|
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
|
|
|
NM_000282.4(PCCA):c.1540+13T>C
|
rs2069419811
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.1540+7A>G
|
rs761046263
|
|
NM_000282.4(PCCA):c.1540+9G>A
|
|
|
NM_000282.4(PCCA):c.1540+9G>T
|
|
|
NM_000282.4(PCCA):c.1541-12_1541-9del
|
rs763530693
|
|
NM_000282.4(PCCA):c.1541-14T>C
|
|
|
NM_000282.4(PCCA):c.1541-16G>A
|
|
|
NM_000282.4(PCCA):c.1541-17T>C
|
|
|
NM_000282.4(PCCA):c.1541-19G>A
|
|
|
NM_000282.4(PCCA):c.1541-19G>T
|
|
|
NM_000282.4(PCCA):c.1541-19_1541-12del
|
|
|
NM_000282.4(PCCA):c.1541-19del
|
rs773809966
|
|
NM_000282.4(PCCA):c.1541-1G>C
|
|
|
NM_000282.4(PCCA):c.1541-20_1541-9del
|
|
|
NM_000282.4(PCCA):c.1541-5C>T
|
|
|
NM_000282.4(PCCA):c.1541-6C>T
|
|
|
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
|
|
|
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
|
rs2071086995
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
|
|
|
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
|
rs2152751916
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
|
rs2152751931
|
|
NM_000282.4(PCCA):c.1594T>C (p.Leu532=)
|
rs2152751935
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
|
rs1344574242
|
|
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
|
rs2152751951
|
|
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
|
|
|
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
|
|
|
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)
|
rs11539554
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
|
rs1566960733
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
NM_000282.4(PCCA):c.1643+11T>C
|
rs2152752064
|
|
NM_000282.4(PCCA):c.1643+12C>A
|
|
|
NM_000282.4(PCCA):c.1643+15T>C
|
|
|
NM_000282.4(PCCA):c.1643+17A>G
|
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
NM_000282.4(PCCA):c.1643+8_1643+13del
|
rs2152752048
|
|
NM_000282.4(PCCA):c.1643+9G>A
|
|
|
NM_000282.4(PCCA):c.1644-18C>T
|
rs1431833092
|
|
NM_000282.4(PCCA):c.1644-7A>G
|
|
|
NM_000282.4(PCCA):c.1644-9C>T
|
rs1425956784
|
|
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
|
rs1461874924
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
|
rs2075362375
|
|
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
|
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter)
|
rs202247816
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
NM_000282.4(PCCA):c.1695G>A (p.Leu565=)
|
rs1595621243
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
NM_000282.4(PCCA):c.16del (p.Val6fs)
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1740G>A (p.Val580=)
|
rs2152811913
|
|
NM_000282.4(PCCA):c.1746+12T>C
|
|
|
NM_000282.4(PCCA):c.1746+14_1746+17del
|
|
|
NM_000282.4(PCCA):c.1746+15T>C
|
|
|
NM_000282.4(PCCA):c.1746+17del
|
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
NM_000282.4(PCCA):c.1746+2T>C
|
|
|
NM_000282.4(PCCA):c.1747-11T>C
|
|
|
NM_000282.4(PCCA):c.1747-12G>A
|
|
|
NM_000282.4(PCCA):c.1747-15T>G
|
|
|
NM_000282.4(PCCA):c.1747-18T>C
|
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.1747-20C>T
|
|
|
NM_000282.4(PCCA):c.1747-6C>T
|
|
|
NM_000282.4(PCCA):c.1747-7A>G
|
|
|
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
|
|
|
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
|
|
|
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
|
rs2079091617
|
|
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
|
|
|
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
|
|
|
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
|
|
|
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
|
rs1595860527
|
|
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
|
rs2079093623
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
NM_000282.4(PCCA):c.1800G>C (p.Ser600=)
|
rs761681712
|
|
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
|
rs761681712
|
|
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
|
|
|
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
|
|
|
NM_000282.4(PCCA):c.1806A>G (p.Leu602=)
|
rs2152893970
|
|
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
|
rs2079094668
|
|
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
|
|
|
NM_000282.4(PCCA):c.1812T>C (p.Ser604=)
|
rs2152893989
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
|
rs2079095516
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
|
rs751083923
|
|
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)
|
rs749767976
|
|
NM_000282.4(PCCA):c.183+15G>T
|
|
|
NM_000282.4(PCCA):c.183+19T>C
|
rs780105316
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.183+7A>G
|
rs369767655
|
|
NM_000282.4(PCCA):c.183+9T>G
|
rs2152251053
|
|
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
|
|
|
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
|
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
NM_000282.4(PCCA):c.184-10C>G
|
|
|
NM_000282.4(PCCA):c.184-10C>T
|
rs2048349934
|
|
NM_000282.4(PCCA):c.184-11dup
|
|
|
NM_000282.4(PCCA):c.184-15T>G
|
rs1257547578
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.184-19G>A
|
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.184-9T>A
|
|
|
NM_000282.4(PCCA):c.184-9T>C
|
|
|
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
|
|
|
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
NM_000282.4(PCCA):c.1845+10G>T
|
rs1456360150
|
|
NM_000282.4(PCCA):c.1845+12A>G
|
|
|
NM_000282.4(PCCA):c.1845+13A>G
|
|
|
NM_000282.4(PCCA):c.1845+1G>A
|
rs1595860868
|
|
NM_000282.4(PCCA):c.1845+20C>A
|
|
|
NM_000282.4(PCCA):c.1845+21del
|
|
|
NM_000282.4(PCCA):c.1845+2T>G
|
|
|
NM_000282.4(PCCA):c.1845+8T>C
|
|
|
NM_000282.4(PCCA):c.1845+9T>C
|
|
|
NM_000282.4(PCCA):c.1846-10dup
|
|
|
NM_000282.4(PCCA):c.1846-13G>T
|
|
|
NM_000282.4(PCCA):c.1846-15_1846-14del
|
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1846-20A>G
|
|
|
NM_000282.4(PCCA):c.1846-2_1852del
|
rs2152925644
|
|
NM_000282.4(PCCA):c.1846-6T>C
|
|
|
NM_000282.4(PCCA):c.1846-9_1846-6del
|
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.184del (p.Thr62fs)
|
rs879253812
|
|
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
|
|
|
NM_000282.4(PCCA):c.1863A>C (p.Ala621=)
|
rs937736837
|
|
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
|
|
|
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
|
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.1893T>C (p.Gly631=)
|
rs2152925693
|
|
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
|
rs61760965
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
NM_000282.4(PCCA):c.1899+12A>G
|
|
|
NM_000282.4(PCCA):c.1899+14C>T
|
|
|
NM_000282.4(PCCA):c.1899+15A>G
|
rs1595942350
|
|
NM_000282.4(PCCA):c.1899+18C>A
|
|
|
NM_000282.4(PCCA):c.1899+1G>T
|
|
|
NM_000282.4(PCCA):c.1899+21_1899+24del
|
|
|
NM_000282.4(PCCA):c.1899+2_1899+3insCT
|
rs2081058900
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.189del (p.Phe63fs)
|
|
|
NM_000282.4(PCCA):c.18C>G (p.Val6=)
|
|
|
NM_000282.4(PCCA):c.18C>T (p.Val6=)
|
rs752423629
|
|
NM_000282.4(PCCA):c.1900-14G>T
|
|
|
NM_000282.4(PCCA):c.1900-15T>C
|
|
|
NM_000282.4(PCCA):c.1900-15del
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.1900-20G>T
|
|
|
NM_000282.4(PCCA):c.1900-2A>G
|
rs2152998141
|
|
NM_000282.4(PCCA):c.1900-7C>T
|
|
|
NM_000282.4(PCCA):c.1900-8C>T
|
rs1480940423
|
|
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
|
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
|
|
|
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
|
|
|
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
|
rs2152998157
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
NM_000282.4(PCCA):c.1920C>T (p.Thr640=)
|
rs2152998162
|
|
NM_000282.4(PCCA):c.1920del (p.Arg641fs)
|
rs1594099731
|
|
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
|
|
|
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
|
|
|
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
|
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
|
|
|
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
|
rs1449490636
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1953G>T (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
|
rs2086766593
|
|
NM_000282.4(PCCA):c.1962G>T (p.Val654=)
|
rs2086766593
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
|
|
|
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
NM_000282.4(PCCA):c.1980T>C (p.Ser660=)
|
rs751989323
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
|
|
|
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
|
|
|
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
|
rs2152998254
|
|
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
|
|
|
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
|
|
|
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
|
rs773033856
|
|
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
|
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
NM_000282.4(PCCA):c.2031T>C (p.Pro677=)
|
rs2152998273
|
|
NM_000282.4(PCCA):c.2040+12G>C
|
|
|
NM_000282.4(PCCA):c.2040+12G>T
|
|
|
NM_000282.4(PCCA):c.2040+15T>C
|
|
|
NM_000282.4(PCCA):c.2040+16G>C
|
rs2152998313
|
|
NM_000282.4(PCCA):c.2040+17TC[4]
|
rs1312258807
|
|
NM_000282.4(PCCA):c.2040+18C>G
|
|
|
NM_000282.4(PCCA):c.2040+1G>T
|
rs1555327732
|
|
NM_000282.4(PCCA):c.2040+20C>G
|
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
NM_000282.4(PCCA):c.2040+7G>A
|
|
|
NM_000282.4(PCCA):c.2040+8C>T
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2041-10del
|
|
|
NM_000282.4(PCCA):c.2041-16C>T
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.2041-8T>C
|
rs2153008293
|
|
NM_000282.4(PCCA):c.2041_2044del
|
|
|
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
|
rs745390236
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
|
rs1594160545
|
|
NM_000282.4(PCCA):c.207T>C (p.Ala69=)
|
rs2152278538
|
|
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
|
rs2087964084
|
|
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
|
|
|
NM_000282.4(PCCA):c.2094T>C (p.Ser698=)
|
rs2153008347
|
|
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
|
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
|
rs141926030
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
|
|
|
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
NM_000282.4(PCCA):c.2118+12_2118+19dup
|
|
|
NM_000282.4(PCCA):c.2118+18C>T
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
NM_000282.4(PCCA):c.2118+7C>T
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
NM_000282.4(PCCA):c.2119-17A>G
|
|
|
NM_000282.4(PCCA):c.2119-19G>A
|
rs1162118685
|
|
NM_000282.4(PCCA):c.2119-1G>C
|
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2119-4C>T
|
|
|
NM_000282.4(PCCA):c.2124A>G (p.Lys708=)
|
rs2153010943
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
|
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
|
|
|
NM_000282.4(PCCA):c.2133C>T (p.His711=)
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)
|
rs1594175453
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
|
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
|
rs748808267
|
|
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
|
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
|
|
|
NM_000282.4(PCCA):c.21del (p.Thr8fs)
|
rs1593996210
|
|
NM_000282.4(PCCA):c.225A>C (p.Ala75=)
|
rs1243423868
|
|
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
|
|
|
NM_000282.4(PCCA):c.231+10A>G
|
|
|
NM_000282.4(PCCA):c.231+18C>A
|
|
|
NM_000282.4(PCCA):c.231+19T>G
|
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000282.4(PCCA):c.231+9_231+13del
|
rs759203419
|
|
NM_000282.4(PCCA):c.232-13T>C
|
|
|
NM_000282.4(PCCA):c.232-17A>C
|
|
|
NM_000282.4(PCCA):c.232-18T>A
|
|
|
NM_000282.4(PCCA):c.232-18T>C
|
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-6A>T
|
rs527249599
|
|
NM_000282.4(PCCA):c.234del (p.Ile79fs)
|
|
|
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
|
|
|
NM_000282.4(PCCA):c.243T>C (p.Thr81=)
|
rs2152278998
|
|
NM_000282.4(PCCA):c.24A>T (p.Thr8=)
|
rs117397004
|
|
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
|
rs999936193
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
|
rs2152279061
|
|
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
|
|
|
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
|
rs2152279075
|
|
NM_000282.4(PCCA):c.279C>T (p.His93=)
|
rs776253297
|
|
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
|
|
|
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly)
|
rs879253801
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.2T>A (p.Met1Lys)
|
rs372093520
|
|
NM_000282.4(PCCA):c.300+15G>A
|
|
|
NM_000282.4(PCCA):c.300+18T>C
|
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
|
NM_000282.4(PCCA):c.300+7A>G
|
rs1241971231
|
|
NM_000282.4(PCCA):c.300+8T>G
|
|
|
NM_000282.4(PCCA):c.300+9A>G
|
rs2152279171
|
|
NM_000282.4(PCCA):c.301-10G>A
|
|
|
NM_000282.4(PCCA):c.301-11T>C
|
|
|
NM_000282.4(PCCA):c.301-18A>G
|
|
|
NM_000282.4(PCCA):c.301-5C>T
|
rs2152382806
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
NM_000282.4(PCCA):c.306T>C (p.His102=)
|
rs1388078702
|
|
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
|
|
|
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
|
|
|
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
|
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
|
|
|
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
NM_000282.4(PCCA):c.334_335del (p.Val112fs)
|
rs1594413897
|
|
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
|
rs922002208
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
|
|
|
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
|
rs1566594619
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
|
rs1228885494
|
|
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
|
rs748802820
|
|
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
|
|
|
NM_000282.4(PCCA):c.378C>T (p.Ala126=)
|
rs2152382977
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
|
rs2152383018
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.414+104C>T
|
rs9585366
|
|
NM_000282.4(PCCA):c.414+11A>G
|
|
|
NM_000282.4(PCCA):c.414+15A>C
|
|
|
NM_000282.4(PCCA):c.414+15A>G
|
rs1016791209
|
|
NM_000282.4(PCCA):c.414+19A>T
|
|
|
NM_000282.4(PCCA):c.414+1G>C
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
NM_000282.4(PCCA):c.415-10C>A
|
|
|
NM_000282.4(PCCA):c.415-13T>C
|
|
|
NM_000282.4(PCCA):c.415-1G>A
|
|
|
NM_000282.4(PCCA):c.415-1G>C
|
|
|
NM_000282.4(PCCA):c.415-2A>G
|
rs746286209
|
|
NM_000282.4(PCCA):c.415-4T>C
|
rs2152387053
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
|
|
|
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.431G>T (p.Gly144Val)
|
rs879253808
|
|
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)
|
rs1593996636
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
|
|
|
NM_000282.4(PCCA):c.446del (p.Asn149fs)
|
rs1206838893
|
|
NM_000282.4(PCCA):c.447del (p.Asn149fs)
|
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
|
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.459C>T (p.Ala153=)
|
rs1358991180
|
|
NM_000282.4(PCCA):c.459del (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter)
|
rs760387660
|
|
NM_000282.4(PCCA):c.468+10T>C
|
|
|
NM_000282.4(PCCA):c.468+10T>G
|
rs2152387181
|
|
NM_000282.4(PCCA):c.468+15A>G
|
|
|
NM_000282.4(PCCA):c.468+18C>G
|
|
|
NM_000282.4(PCCA):c.468+18C>T
|
|
|
NM_000282.4(PCCA):c.468+19A>G
|
|
|
NM_000282.4(PCCA):c.468+1G>A
|
rs766139678
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
NM_000282.4(PCCA):c.468+8G>A
|
rs2152387172
|
|
NM_000282.4(PCCA):c.468+8_468+10dup
|
|
|
NM_000282.4(PCCA):c.469-4A>G
|
|
|
NM_000282.4(PCCA):c.469-5C>T
|
|
|
NM_000282.4(PCCA):c.469-5dup
|
|
|
NM_000282.4(PCCA):c.469-8C>A
|
|
|
NM_000282.4(PCCA):c.469-9del
|
|
|
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
NM_000282.4(PCCA):c.483C>G (p.Val161=)
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
|
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
NM_000282.4(PCCA):c.497del (p.Pro166fs)
|
|
|
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
|
|
|
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
NM_000282.4(PCCA):c.505_506del (p.His169fs)
|
rs2152478652
|
|
NM_000282.4(PCCA):c.506dup (p.His169fs)
|
rs2152478688
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
|
|
|
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
|
rs1421021643
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter)
|
rs879253811
|
|
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
|
rs2059068868
|
|
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
|
rs2059069232
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.564G>A (p.Glu188=)
|
rs1594744855
|
|
NM_000282.4(PCCA):c.567T>C (p.Val189=)
|
rs773301690
|
|
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
|
|
|
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
|
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
NM_000282.4(PCCA):c.579T>G (p.Pro193=)
|
rs2152478869
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
NM_000282.4(PCCA):c.597C>G (p.Val199=)
|
|
|
NM_000282.4(PCCA):c.600+15T>C
|
|
|
NM_000282.4(PCCA):c.600+16A>C
|
|
|
NM_000282.4(PCCA):c.600+17A>C
|
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.601-10G>A
|
rs903647084
|
|
NM_000282.4(PCCA):c.601-12C>T
|
|
|
NM_000282.4(PCCA):c.601-18C>T
|
|
|
NM_000282.4(PCCA):c.601-4A>G
|
|
|
NM_000282.4(PCCA):c.601-6T>C
|
|
|
NM_000282.4(PCCA):c.601-9C>T
|
rs775469263
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
|
rs773868428
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
NM_000282.4(PCCA):c.612A>G (p.Glu204=)
|
rs1594860188
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000282.4(PCCA):c.622del (p.Ile208fs)
|
|
|
NM_000282.4(PCCA):c.630G>A (p.Arg210=)
|
rs2152522233
|
|
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
|
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
NM_000282.4(PCCA):c.637+18C>T
|
rs758676556
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
NM_000282.4(PCCA):c.637+9T>G
|
rs2152522254
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
NM_000282.4(PCCA):c.638-2del
|
|
|
NM_000282.4(PCCA):c.638-5G>T
|
rs764316702
|
|
NM_000282.4(PCCA):c.638-7C>T
|
rs2152558252
|
|
NM_000282.4(PCCA):c.63G>A (p.Pro21=)
|
rs2152189800
|
|
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
|
rs751840442
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
|
rs372844772
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
NM_000282.4(PCCA):c.652A>C (p.Ile218Leu)
|
rs1012525921
|
|
NM_000282.4(PCCA):c.656dup (p.Ala220fs)
|
rs1594961338
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
|
|
|
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
|
|
|
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
|
rs1594961620
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
NM_000282.4(PCCA):c.696T>G (p.Ala232=)
|
rs2152558384
|
|
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
|
|
|
NM_000282.4(PCCA):c.69G>A (p.Gln23=)
|
rs1593997093
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.6G>A (p.Ala2=)
|
rs958365590
|
|
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
NM_000282.4(PCCA):c.716+16A>G
|
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
NM_000282.4(PCCA):c.716+20A>G
|
|
|
NM_000282.4(PCCA):c.716+2T>C
|
|
|
NM_000282.4(PCCA):c.717-13_717-11del
|
rs2152564870
|
|
NM_000282.4(PCCA):c.717-15T>G
|
|
|
NM_000282.4(PCCA):c.717-19T>G
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.717-5dup
|
rs2062610539
|
|
NM_000282.4(PCCA):c.717-8T>G
|
rs1367148068
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
|
rs2152189926
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
|
|
|
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
|
|
|
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
NM_000282.4(PCCA):c.747T>C (p.Ala249=)
|
rs1594992384
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
NM_000282.4(PCCA):c.756T>C (p.Ser252=)
|
rs2152564931
|
|
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
|
rs1295789610
|
|
NM_000282.4(PCCA):c.762C>A (p.Gly254=)
|
rs758211858
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly)
|
rs746776657
|
|
NM_000282.4(PCCA):c.771A>G (p.Arg257=)
|
rs1483857199
|
|
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
|
|
|
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
|
|
|
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
|
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
|
rs1451573276
|
|
NM_000282.4(PCCA):c.783A>G (p.Glu261=)
|
rs917366865
|
|
NM_000282.4(PCCA):c.786del (p.Lys262fs)
|
|
|
NM_000282.4(PCCA):c.789del (p.Phe263fs)
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
NM_000282.4(PCCA):c.79C>T (p.Leu27=)
|
rs2152189967
|
|
NM_000282.4(PCCA):c.801T>C (p.Pro267=)
|
rs2152564990
|
|
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
|
rs368047060
|
|
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
|
rs2062620327
|
|
NM_000282.4(PCCA):c.807T>C (p.His269=)
|
rs2152565006
|
|
NM_000282.4(PCCA):c.819+10T>C
|
rs1280822128
|
|
NM_000282.4(PCCA):c.819+13_819+35del
|
|
|
NM_000282.4(PCCA):c.819+16A>T
|
rs377356398
|
|
NM_000282.4(PCCA):c.819+19C>T
|
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
NM_000282.4(PCCA):c.819+7A>G
|
|
|
NM_000282.4(PCCA):c.819+8C>T
|
|
|
NM_000282.4(PCCA):c.81G>A (p.Leu27=)
|
rs2152189973
|
|
NM_000282.4(PCCA):c.820-18A>G
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
NM_000282.4(PCCA):c.820-1G>T
|
|
|
NM_000282.4(PCCA):c.820-8T>C
|
|
|
NM_000282.4(PCCA):c.820-9C>T
|
rs1371297395
|
|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
NM_000282.4(PCCA):c.837del (p.His279fs)
|
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
|
|
|
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
|
rs911990330
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
NM_000282.4(PCCA):c.85del (p.Ala29fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
|
|
|
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)
|
rs1595032920
|
|
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
|
|
|
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
|
|
|
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
|
|
|
NM_000282.4(PCCA):c.880A>C (p.Arg294=)
|
rs2063109467
|
|
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
|
|
|
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
|
|
|
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
|
|
|
NM_000282.4(PCCA):c.895G>A (p.Val299Met)
|
rs1188239325
|
|
NM_000282.4(PCCA):c.897G>C (p.Val299=)
|
rs770113371
|
|
NM_000282.4(PCCA):c.900G>A (p.Val300=)
|
rs2152572391
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
|
|
|
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
|
|
|
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
|
rs776449255
|
|
NM_000282.4(PCCA):c.90G>T (p.Ala30=)
|
rs776449255
|
|
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
|
rs2063111759
|
|
NM_000282.4(PCCA):c.914+14G>A
|
|
|
NM_000282.4(PCCA):c.914+14G>C
|
rs2152572441
|
|
NM_000282.4(PCCA):c.914+16A>T
|
|
|
NM_000282.4(PCCA):c.914+17A>G
|
|
|
NM_000282.4(PCCA):c.914+17A>T
|
|
|
NM_000282.4(PCCA):c.914+18_914+19inv
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.914+9C>T
|
|
|
NM_000282.4(PCCA):c.915-11dup
|
rs1311154145
|
|
NM_000282.4(PCCA):c.915-13T>G
|
|
|
NM_000282.4(PCCA):c.915-15T>G
|
|
|
NM_000282.4(PCCA):c.915-18A>G
|
|
|
NM_000282.4(PCCA):c.915-18del
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.915-4G>A
|
|
|
NM_000282.4(PCCA):c.915-5T>C
|
rs2152587983
|
|
NM_000282.4(PCCA):c.915-6A>G
|
rs2063416816
|
|
NM_000282.4(PCCA):c.915-6A>T
|
rs2063416816
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
NM_000282.4(PCCA):c.91C>T (p.Leu31=)
|
rs2152190063
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
|
rs377248400
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
|
|
|
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
|
|
|
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
|
rs2152588262
|
|
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
|
rs2152588280
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
|
rs2152190089
|
|
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
|
rs2152588516
|
|
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
|
|
|
NM_000282.4(PCCA):c.957A>G (p.Gln319=)
|
rs756496977
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
|
|
|
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
|
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
|
rs2152588623
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
|
|
|
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
|
rs2063425317
|
|
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
|
rs2063425317
|
|
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
|
|
|
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
|
|
|
NM_000282.4(PCCA):c.981A>G (p.Val327=)
|
rs2063425788
|
|
NM_000282.4(PCCA):c.996T>C (p.Ala332=)
|
rs2152588809
|
|
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
|
|
|
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
|
|
|
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
|
|
|
NM_000282.4(PCCA):c.9G>C (p.Gly3=)
|
rs547209141
|
|
NM_000532.4(PCCB):c.-46A>T
|
rs751837162
|
|
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
|
|
|
NM_000532.5(PCCB):c.*128_*132del
|
rs886058021
|
|
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
|
rs2108127602
|
|
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
|
|
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
NM_000532.5(PCCB):c.1017C>T (p.Asn339=)
|
rs764080368
|
|
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
|
rs2108226621
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs)
|
rs2108226643
|
|
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
|
|
|
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
|
|
|
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs)
|
rs2108226666
|
|
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
|
rs2108127935
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
|
|
|
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
|
|
|
NM_000532.5(PCCB):c.1086C>T (p.Ala362=)
|
rs748740009
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
NM_000532.5(PCCB):c.1090+11G>A
|
|
|
NM_000532.5(PCCB):c.1090+13T>C
|
|
|
NM_000532.5(PCCB):c.1090+13_1090+16del
|
|
|
NM_000532.5(PCCB):c.1090+15_1090+16dup
|
|
|
NM_000532.5(PCCB):c.1090+17A>C
|
|
|
NM_000532.5(PCCB):c.1090+17A>T
|
|
|
NM_000532.5(PCCB):c.1090+17dup
|
|
|
NM_000532.5(PCCB):c.1090+19A>G
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
NM_000532.5(PCCB):c.1090+7T>C
|
rs2108226731
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
NM_000532.5(PCCB):c.1090_1090+1insTC
|
|
|
NM_000532.5(PCCB):c.1091-12C>G
|
|
|
NM_000532.5(PCCB):c.1091-12C>T
|
|
|
NM_000532.5(PCCB):c.1091-14C>T
|
|
|
NM_000532.5(PCCB):c.1091-15TC[3]
|
|
|
NM_000532.5(PCCB):c.1091-16_1091-14del
|
|
|
NM_000532.5(PCCB):c.1091-19A>G
|
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
NM_000532.5(PCCB):c.1091-4C>T
|
rs759283485
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
|
|
|
NM_000532.5(PCCB):c.10del (p.Ala4fs)
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
|
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)
|
rs1024773388
|
|
NM_000532.5(PCCB):c.1142dup (p.Cys381fs)
|
rs2108237854
|
|
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
|
|
|
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
|
rs1307858265
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
|
rs1303454039
|
|
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
|
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
|
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
|
|
|
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
|
|
|
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
|
rs767647079
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
NM_000532.5(PCCB):c.1198+12A>G
|
|
|
NM_000532.5(PCCB):c.1198+13C>T
|
|
|
NM_000532.5(PCCB):c.1198+14A>G
|
|
|
NM_000532.5(PCCB):c.1198+17G>A
|
|
|
NM_000532.5(PCCB):c.1198+18T>G
|
|
|
NM_000532.5(PCCB):c.1198+18dup
|
|
|
NM_000532.5(PCCB):c.1198+19G>C
|
|
|
NM_000532.5(PCCB):c.1198+19G>T
|
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
NM_000532.5(PCCB):c.1199-15C>G
|
|
|
NM_000532.5(PCCB):c.1199-15C>T
|
|
|
NM_000532.5(PCCB):c.1199-17C>T
|
|
|
NM_000532.5(PCCB):c.1199-18dup
|
rs2108238321
|
|
NM_000532.5(PCCB):c.1199-1G>A
|
|
|
NM_000532.5(PCCB):c.1199-1G>C
|
|
|
NM_000532.5(PCCB):c.1199-20T>G
|
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
NM_000532.5(PCCB):c.1199-4C>G
|
|
|
NM_000532.5(PCCB):c.1199-5T>C
|
|
|
NM_000532.5(PCCB):c.1199-7T>C
|
|
|
NM_000532.5(PCCB):c.1199-9C>T
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)
|
rs768935968
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
|
rs2108238365
|
|
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.1220G>A (p.Gly407Asp)
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
NM_000532.5(PCCB):c.1220del (p.Gly407fs)
|
rs1576360488
|
|
NM_000532.5(PCCB):c.1221del (p.Ile408fs)
|
rs1560033769
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1226del (p.Ile409fs)
|
rs1560033794
|
|
NM_000532.5(PCCB):c.1228C>A (p.Arg410=)
|
rs121964959
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
|
rs1576360539
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
|
rs780048274
|
|
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
|
|
|
NM_000532.5(PCCB):c.1248C>T (p.Leu416=)
|
rs747022334
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
|
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
NM_000532.5(PCCB):c.1275del (p.Val427fs)
|
rs2108238464
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs)
|
rs775583360
|
|
NM_000532.5(PCCB):c.1287C>A (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
|
rs1474177341
|
|
NM_000532.5(PCCB):c.1299+12A>G
|
rs751610521
|
|
NM_000532.5(PCCB):c.1299+19A>C
|
|
|
NM_000532.5(PCCB):c.1299+3_1299+10del
|
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
NM_000532.5(PCCB):c.1299+7A>T
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-12G>T
|
|
|
NM_000532.5(PCCB):c.1300-13G>A
|
rs1320397998
|
|
NM_000532.5(PCCB):c.1300-18C>T
|
|
|
NM_000532.5(PCCB):c.1300-19G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
NM_000532.5(PCCB):c.1300-2A>C
|
rs1553784684
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
|
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
|
|
|
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
|
rs1576360934
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
|
rs1935374974
|
|
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
|
rs2108239069
|
|
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
|
rs1576397633
|
|
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
|
rs1576360976
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
|
rs145075817
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
|
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
NM_000532.5(PCCB):c.1398+11C>G
|
|
|
NM_000532.5(PCCB):c.1398+15C>T
|
|
|
NM_000532.5(PCCB):c.1398+16T>G
|
|
|
NM_000532.5(PCCB):c.1398+18T>C
|
|
|
NM_000532.5(PCCB):c.1398+1G>A
|
|
|
NM_000532.5(PCCB):c.1398+1G>C
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
NM_000532.5(PCCB):c.1398+8C>T
|
|
|
NM_000532.5(PCCB):c.1398+9C>T
|
rs2108239140
|
|
NM_000532.5(PCCB):c.1399-12_1399-10del
|
|
|
NM_000532.5(PCCB):c.1399-1G>C
|
|
|
NM_000532.5(PCCB):c.1399-5C>G
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)
|
rs775563122
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
|
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
|
|
|
NM_000532.5(PCCB):c.1422del (p.His476fs)
|
rs2108240287
|
|
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
|
rs1576361811
|
|
NM_000532.5(PCCB):c.1446T>C (p.Ala482=)
|
rs1233276940
|
|
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
|
|
|
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
|
rs1462411928
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.1461C>T (p.Ile487=)
|
rs778676531
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
|
|
|
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
|
|
|
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
|
|
|
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
|
rs1428860331
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1482C>T (p.Phe494=)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
NM_000532.5(PCCB):c.1498+10T>C
|
rs777201996
|
|
NM_000532.5(PCCB):c.1498+12T>C
|
|
|
NM_000532.5(PCCB):c.1498+12_1498+13del
|
rs770922237
|
|
NM_000532.5(PCCB):c.1498+14G>A
|
|
|
NM_000532.5(PCCB):c.1498+15T>C
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1498+8A>G
|
rs2108240447
|
|
NM_000532.5(PCCB):c.1498+9C>T
|
|
|
NM_000532.5(PCCB):c.1499-10G>T
|
|
|
NM_000532.5(PCCB):c.1499-19C>T
|
|
|
NM_000532.5(PCCB):c.1499-1G>C
|
rs1935478339
|
|
NM_000532.5(PCCB):c.1499-2A>G
|
|
|
NM_000532.5(PCCB):c.1499-4C>T
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1503del (p.Phe501fs)
|
rs1553785139
|
|
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
|
|
|
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
|
rs2108241650
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)
|
rs2108241656
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)
|
rs1553785152
|
|
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
|
rs1941483338
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro)
|
rs202247821
|
|
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
|
rs1337219671
|
|
NM_000532.5(PCCB):c.154_183+17del
|
rs2108128051
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)
|
rs1553785169
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
|
rs1935483520
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
|
rs561539546
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
NM_000532.5(PCCB):c.171G>T (p.Ala57=)
|
rs1168077273
|
|
NM_000532.5(PCCB):c.174G>A (p.Gln58=)
|
rs1576397701
|
|
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn)
|
rs2108128131
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer)
|
rs2108128163
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
NM_000532.5(PCCB):c.183+12G>A
|
|
|
NM_000532.5(PCCB):c.183+13G>A
|
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>C
|
|
|
NM_000532.5(PCCB):c.183+15G>T
|
|
|
NM_000532.5(PCCB):c.183+15del
|
|
|
NM_000532.5(PCCB):c.183+16C>T
|
|
|
NM_000532.5(PCCB):c.183+17C>A
|
|
|
NM_000532.5(PCCB):c.183+18T>C
|
|
|
NM_000532.5(PCCB):c.183+19A>C
|
|
|
NM_000532.5(PCCB):c.183+19A>G
|
rs2108128256
|
|
NM_000532.5(PCCB):c.183+19_183+22del
|
rs2108128253
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
NM_000532.5(PCCB):c.183+5G>T
|
|
|
NM_000532.5(PCCB):c.183+7C>T
|
rs1039491317
|
|
NM_000532.5(PCCB):c.183+8C>T
|
rs780042796
|
|
NM_000532.5(PCCB):c.183+9T>C
|
rs2108128200
|
|
NM_000532.5(PCCB):c.183+9_183+28del
|
|
|
NM_000532.5(PCCB):c.184-12G>A
|
|
|
NM_000532.5(PCCB):c.184-16C>T
|
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.184-2A>C
|
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT
|
rs1559995259
|
|
NM_000532.5(PCCB):c.184-5T>C
|
|
|
NM_000532.5(PCCB):c.184-7A>G
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-7A>T
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-8C>T
|
|
|
NM_000532.5(PCCB):c.184-8del
|
|
|
NM_000532.5(PCCB):c.184-9C>T
|
rs2108137236
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
|
|
|
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
|
|
|
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
|
|
|
NM_000532.5(PCCB):c.196del (p.Ala66fs)
|
rs1553774018
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
NM_000532.5(PCCB):c.210C>T (p.Ile70=)
|
rs1195573163
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
|
|
|
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
|
rs2108137325
|
|
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
|
rs1941660630
|
|
NM_000532.5(PCCB):c.21G>A (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.21G>C (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
NM_000532.5(PCCB):c.249C>T (p.Asp83=)
|
rs1941661486
|
|
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
|
|
|
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
|
|
|
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
NM_000532.5(PCCB):c.27G>C (p.Ala9=)
|
rs1402404407
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter)
|
rs202247817
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
NM_000532.5(PCCB):c.292_294del (p.Asp98del)
|
rs1307067547
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
|
rs398123462
|
|
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
|
|
|
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
|
|
|
NM_000532.5(PCCB):c.303+13A>C
|
|
|
NM_000532.5(PCCB):c.303+15G>A
|
|
|
NM_000532.5(PCCB):c.303+18G>A
|
|
|
NM_000532.5(PCCB):c.303+19_303+21del
|
rs1338554743
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
NM_000532.5(PCCB):c.303+7G>A
|
rs747794871
|
|
NM_000532.5(PCCB):c.304-10T>C
|
|
|
NM_000532.5(PCCB):c.304-13A>G
|
|
|
NM_000532.5(PCCB):c.304-14C>T
|
|
|
NM_000532.5(PCCB):c.304-16del
|
|
|
NM_000532.5(PCCB):c.304-1G>A
|
|
|
NM_000532.5(PCCB):c.304-20T>C
|
|
|
NM_000532.5(PCCB):c.304-20T>G
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
NM_000532.5(PCCB):c.304-4G>T
|
rs1178341565
|
|
NM_000532.5(PCCB):c.304-5G>C
|
rs2108138190
|
|
NM_000532.5(PCCB):c.304-6T>C
|
rs1941675458
|
|
NM_000532.5(PCCB):c.304-8dup
|
|
|
NM_000532.5(PCCB):c.304-9T>C
|
rs772699339
|
|
NM_000532.5(PCCB):c.306T>C (p.Phe102=)
|
rs770601332
|
|
NM_000532.5(PCCB):c.30C>A (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.30C>G (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.321G>A (p.Val107=)
|
|
|
NM_000532.5(PCCB):c.324C>G (p.Val108=)
|
|
|
NM_000532.5(PCCB):c.327T>C (p.Thr109=)
|
rs2108138226
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
|
rs1576402832
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
|
|
|
NM_000532.5(PCCB):c.371dup (p.Asp125fs)
|
|
|
NM_000532.5(PCCB):c.372+12C>T
|
|
|
NM_000532.5(PCCB):c.372+14C>G
|
|
|
NM_000532.5(PCCB):c.372+15C>A
|
|
|
NM_000532.5(PCCB):c.372+18T>C
|
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
NM_000532.5(PCCB):c.373-1243G>A
|
rs1184391176
|
|
NM_000532.5(PCCB):c.373-1246G>A
|
rs996480567
|
|
NM_000532.5(PCCB):c.373-1271del
|
rs1553774493
|
|
NM_000532.5(PCCB):c.373-1281G>A
|
rs1553774486
|
|
NM_000532.5(PCCB):c.373-1297_373-1295del
|
rs1553774476
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
NM_000532.5(PCCB):c.373-5T>C
|
|
|
NM_000532.5(PCCB):c.373-8C>G
|
|
|
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
|
|
|
NM_000532.5(PCCB):c.384T>G (p.Val128=)
|
rs1169839469
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
|
|
|
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
|
rs1576405957
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
|
rs1941792521
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
|
|
|
NM_000532.5(PCCB):c.429+11A>C
|
|
|
NM_000532.5(PCCB):c.429+15C>T
|
|
|
NM_000532.5(PCCB):c.429+17C>A
|
|
|
NM_000532.5(PCCB):c.429+17C>T
|
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.429+20A>G
|
rs1282306131
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
NM_000532.5(PCCB):c.429+3_429+6del
|
rs1941792728
|
|
NM_000532.5(PCCB):c.429+8T>C
|
rs2108144514
|
|
NM_000532.5(PCCB):c.429+9T>G
|
|
|
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
|
|
|
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
|
rs2108127783
|
|
NM_000532.5(PCCB):c.430-12C>T
|
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
NM_000532.5(PCCB):c.430-14C>A
|
|
|
NM_000532.5(PCCB):c.430-14C>G
|
rs1320752306
|
|
NM_000532.5(PCCB):c.430-17T>C
|
|
|
NM_000532.5(PCCB):c.430-17T>G
|
rs2108146563
|
|
NM_000532.5(PCCB):c.430-18A>T
|
|
|
NM_000532.5(PCCB):c.430-19G>A
|
|
|
NM_000532.5(PCCB):c.430-1G>A
|
rs2108146606
|
|
NM_000532.5(PCCB):c.430-9C>T
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.449del (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.453G>A (p.Val151=)
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
|
rs2108146658
|
|
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
|
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.488del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
|
rs1941842008
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer)
|
rs2108146780
|
|
NM_000532.5(PCCB):c.519G>A (p.Leu173=)
|
rs2108146783
|
|
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
|
|
|
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
|
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
NM_000532.5(PCCB):c.528T>C (p.Tyr176=)
|
rs2108146812
|
|
NM_000532.5(PCCB):c.52del (p.Ala18fs)
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
|
|
|
NM_000532.5(PCCB):c.541C>T (p.Leu181=)
|
rs991870747
|
|
NM_000532.5(PCCB):c.543+10C>G
|
rs2108146841
|
|
NM_000532.5(PCCB):c.543+11T>C
|
|
|
NM_000532.5(PCCB):c.543+17T>G
|
|
|
NM_000532.5(PCCB):c.543+19G>C
|
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
NM_000532.5(PCCB):c.543+2T>G
|
|
|
NM_000532.5(PCCB):c.543+8A>G
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
NM_000532.5(PCCB):c.553del (p.Thr185fs)
|
rs886058018
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
NM_000532.5(PCCB):c.579T>A (p.Ile193=)
|
rs2108181900
|
|
NM_000532.5(PCCB):c.57C>T (p.Ser19=)
|
rs1196995378
|
|
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
|
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
|
rs1933215700
|
|
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)
|
rs1313783374
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
|
rs759098964
|
|
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)
|
rs1553777571
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
NM_000532.5(PCCB):c.614T>A (p.Val205Asp)
|
rs1303129574
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)
|
rs779033674
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
NM_000532.5(PCCB):c.654+13G>A
|
|
|
NM_000532.5(PCCB):c.654+14del
|
rs748846212
|
|
NM_000532.5(PCCB):c.654+16C>A
|
|
|
NM_000532.5(PCCB):c.654+17T>C
|
|
|
NM_000532.5(PCCB):c.654+18G>A
|
|
|
NM_000532.5(PCCB):c.654+1G>C
|
rs1553777590
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
NM_000532.5(PCCB):c.654+8A>T
|
rs2108182157
|
|
NM_000532.5(PCCB):c.655-12C>G
|
|
|
NM_000532.5(PCCB):c.655-18G>A
|
|
|
NM_000532.5(PCCB):c.655-20C>G
|
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
NM_000532.5(PCCB):c.655-7del
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
NM_000532.5(PCCB):c.655-8dup
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
|
|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
|
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.683del (p.Pro228fs)
|
rs2108197244
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
NM_000532.5(PCCB):c.693G>T (p.Val231=)
|
|
|
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
|
rs769835356
|
|
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
|
|
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
|
rs1021206121
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
NM_000532.5(PCCB):c.732dup (p.Gly245fs)
|
rs2108197325
|
|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
|
rs2108197348
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
NM_000532.5(PCCB):c.751_752del (p.Thr251fs)
|
rs2108197377
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
NM_000532.5(PCCB):c.763+1G>A
|
rs1553778912
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763+7G>A
|
|
|
NM_000532.5(PCCB):c.763+8G>A
|
rs2108197414
|
|
NM_000532.5(PCCB):c.763+8G>C
|
rs2108197414
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.764-10G>A
|
|
|
NM_000532.5(PCCB):c.764-10G>C
|
rs372617301
|
|
NM_000532.5(PCCB):c.764-11del
|
|
|
NM_000532.5(PCCB):c.764-16C>T
|
|
|
NM_000532.5(PCCB):c.764-17G>T
|
|
|
NM_000532.5(PCCB):c.764-18T>G
|
|
|
NM_000532.5(PCCB):c.764-5C>A
|
rs1934010592
|
|
NM_000532.5(PCCB):c.764-7C>A
|
|
|
NM_000532.5(PCCB):c.764-7C>T
|
|
|
NM_000532.5(PCCB):c.765T>C (p.Gly255=)
|
rs2108202688
|
|
NM_000532.5(PCCB):c.768G>A (p.Val256=)
|
rs2108202690
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
|
rs1941479615
|
|
NM_000532.5(PCCB):c.774C>T (p.His258=)
|
rs141615209
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
|
|
|
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
|
|
|
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)
|
rs774249198
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
NM_000532.5(PCCB):c.809del (p.Asn270fs)
|
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
|
rs762223074
|
|
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.839del (p.Leu280fs)
|
rs1576337935
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn)
|
rs777434061
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
NM_000532.5(PCCB):c.854del (p.Pro285fs)
|
|
|
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
NM_000532.5(PCCB):c.864C>A (p.Val288=)
|
rs1934016889
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
NM_000532.5(PCCB):c.876C>T (p.His292=)
|
rs776893713
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
NM_000532.5(PCCB):c.884+10A>G
|
rs2108202951
|
|
NM_000532.5(PCCB):c.884+11G>A
|
|
|
NM_000532.5(PCCB):c.884+14C>A
|
|
|
NM_000532.5(PCCB):c.884+16dup
|
|
|
NM_000532.5(PCCB):c.884+19C>G
|
|
|
NM_000532.5(PCCB):c.884+1G>A
|
|
|
NM_000532.5(PCCB):c.884+1G>C
|
rs1553779458
|
|
NM_000532.5(PCCB):c.884+8G>A
|
rs187345727
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000532.5(PCCB):c.885-11dup
|
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
NM_000532.5(PCCB):c.885-2A>G
|
rs1553780163
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
|
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
|
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
|
rs751136139
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
NM_000532.5(PCCB):c.966+10A>G
|
rs2108208861
|
|
NM_000532.5(PCCB):c.966+13T>C
|
|
|
NM_000532.5(PCCB):c.966+15T>C
|
|
|
NM_000532.5(PCCB):c.966+18T>A
|
|
|
NM_000532.5(PCCB):c.966+18T>C
|
rs756231828
|
|
NM_000532.5(PCCB):c.966+18_966+21del
|
|
|
NM_000532.5(PCCB):c.966+19T>C
|
rs1472403904
|
|
NM_000532.5(PCCB):c.966+1G>T
|
rs1385850128
|
|
NM_000532.5(PCCB):c.966+20G>T
|
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
NM_000532.5(PCCB):c.966+8C>T
|
|
|
NM_000532.5(PCCB):c.967-10A>T
|
|
|
NM_000532.5(PCCB):c.967-18G>A
|
rs2108226497
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|
NM_000532.5(PCCB):c.967-4G>T
|
rs2108226511
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
NM_000532.5(PCCB):c.967-7C>T
|
|
|
NM_000532.5(PCCB):c.967-8dup
|
|
|
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del)
|
rs1353971489
|
|
NM_000532.5(PCCB):c.96C>A (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.9G>A (p.Ala3=)
|
rs763025114
|
|
NM_001195087.2(GGACT):c.*1774G>A
|
rs41281124
|
|
NM_001195087.2(GGACT):c.*1811dup
|
rs140492017
|
|
NM_001195087.2(GGACT):c.*1873T>C
|
rs2088307404
|
|