NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
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.2040+11dup
|
rs779884567
|
0.00087
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
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.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.606A>G (p.Ala202=)
|
rs140082586
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
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_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
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.862A>C (p.Arg288=)
|
rs121964957
|
0.00013
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
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.2016C>T (p.Ala672=)
|
rs773033856
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
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_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.1540+20T>C
|
rs754203055
|
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_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
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.483C>T (p.Val161=)
|
rs370402818
|
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.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
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_000282.4(PCCA):c.1176C>T (p.Asn392=)
|
rs138597181
|
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.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.819+9A>G
|
rs372739944
|
0.00004
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
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.1541G>A (p.Arg514Gln)
|
rs577625696
|
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.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.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
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.915-18A>T
|
rs780272314
|
0.00003
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
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.654+12G>T
|
rs770141659
|
0.00003
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
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_000282.4(PCCA):c.1285-4C>T
|
rs372262089
|
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.318G>A (p.Ala106=)
|
rs752769607
|
0.00002
|
NM_000282.4(PCCA):c.469-6C>T
|
rs1411689584
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
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.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
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.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
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.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.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.1437A>G (p.Thr479=)
|
rs1224037636
|
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.1541-15A>G
|
rs748759552
|
0.00001
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
NM_000282.4(PCCA):c.1764G>A (p.Ser588=)
|
rs772158996
|
0.00001
|
NM_000282.4(PCCA):c.1785G>A (p.Thr595=)
|
rs766312551
|
0.00001
|
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
|
rs761681712
|
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.184-5T>C
|
rs780230606
|
0.00001
|
NM_000282.4(PCCA):c.1899+7A>G
|
rs950344042
|
0.00001
|
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
|
rs1357780167
|
0.00001
|
NM_000282.4(PCCA):c.2001C>T (p.Pro667=)
|
rs778845861
|
0.00001
|
NM_000282.4(PCCA):c.2010G>A (p.Val670=)
|
rs1343608733
|
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.2136T>C (p.Cys712=)
|
rs781085655
|
0.00001
|
NM_000282.4(PCCA):c.231+8G>A
|
rs199996461
|
0.00001
|
NM_000282.4(PCCA):c.30G>T (p.Pro10=)
|
rs1206173421
|
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.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.453A>G (p.Glu151=)
|
rs897110640
|
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.637+18C>A
|
rs758676556
|
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.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.864A>G (p.Arg288=)
|
rs771222501
|
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.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.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.1300-11A>G
|
rs200406126
|
0.00001
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
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.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
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.1499-6C>T
|
rs769854818
|
0.00001
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
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.183+7C>G
|
rs1039491317
|
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.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
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.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
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.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.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
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.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
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.801C>T (p.Ala267=)
|
rs759508806
|
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.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
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.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
|
|
|
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
|
rs2152588978
|
|
NM_000282.4(PCCA):c.1026G>A (p.Lys342=)
|
rs2152589052
|
|
NM_000282.4(PCCA):c.1042T>C (p.Leu348=)
|
rs2152589147
|
|
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
|
|
|
NM_000282.4(PCCA):c.105+11A>G
|
|
|
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.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.106-5del
|
|
|
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+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.1099C>T (p.Leu367=)
|
rs1328083857
|
|
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
|
|
|
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
|
rs2152683893
|
|
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
|
|
|
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
|
|
|
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
|
|
|
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
|
rs2152684012
|
|
NM_000282.4(PCCA):c.1179C>A (p.Gly393=)
|
rs1430193054
|
|
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+8G>C
|
|
|
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.1210-4T>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.1215C>T (p.Pro405=)
|
|
|
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
|
rs2152686094
|
|
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
|
|
|
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
|
|
|
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
|
|
|
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
|
rs2066177786
|
|
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
|
|
|
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
|
rs763916930
|
|
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
|
|
|
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+7C>A
|
|
|
NM_000282.4(PCCA):c.1285-12_1285-8del
|
rs2066517246
|
|
NM_000282.4(PCCA):c.1285-14T>C
|
rs1374058554
|
|
NM_000282.4(PCCA):c.1285-7C>T
|
rs748531448
|
|
NM_000282.4(PCCA):c.1285-7dup
|
rs2066518077
|
|
NM_000282.4(PCCA):c.1285-9T>C
|
|
|
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
|
|
|
NM_000282.4(PCCA):c.1311A>T (p.Pro437=)
|
rs2152692646
|
|
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+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.1354-8G>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.1365T>C (p.Tyr455=)
|
rs1225545034
|
|
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
|
|
|
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
|
rs2152697440
|
|
NM_000282.4(PCCA):c.1407A>T (p.Ala469=)
|
rs2152697468
|
|
NM_000282.4(PCCA):c.1408C>T (p.Leu470=)
|
rs1566911871
|
|
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
|
|
|
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.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.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.1430-8A>T
|
|
|
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.1455T>C (p.Leu485=)
|
rs752220238
|
|
NM_000282.4(PCCA):c.1458A>C (p.Arg486=)
|
rs2152733872
|
|
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
|
|
|
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.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.1524T>C (p.Tyr508=)
|
rs2152734002
|
|
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
|
|
|
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
|
|
|
NM_000282.4(PCCA):c.1540+13T>C
|
rs2069419811
|
|
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.1541-20_1541-9del
|
|
|
NM_000282.4(PCCA):c.1541-5C>T
|
|
|
NM_000282.4(PCCA):c.1541-6C>T
|
|
|
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
|
|
|
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
|
|
|
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
|
rs2152751916
|
|
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.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.1620A>G (p.Ala540=)
|
rs1566960733
|
|
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+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.1671C>G (p.Ala557=)
|
rs2075362375
|
|
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
|
|
|
NM_000282.4(PCCA):c.1695G>A (p.Leu565=)
|
rs1595621243
|
|
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
|
|
|
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
|
|
|
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.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.1747-20C>T
|
|
|
NM_000282.4(PCCA):c.1747-6C>T
|
|
|
NM_000282.4(PCCA):c.1747-7A>G
|
|
|
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
|
|
|
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.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.183+15G>T
|
|
|
NM_000282.4(PCCA):c.183+19T>C
|
rs780105316
|
|
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.184-10C>G
|
|
|
NM_000282.4(PCCA):c.184-10C>T
|
rs2048349934
|
|
NM_000282.4(PCCA):c.184-15T>G
|
rs1257547578
|
|
NM_000282.4(PCCA):c.184-19G>A
|
|
|
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+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+20C>A
|
|
|
NM_000282.4(PCCA):c.1845+21del
|
|
|
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.1846-20A>G
|
|
|
NM_000282.4(PCCA):c.1846-6T>C
|
|
|
NM_000282.4(PCCA):c.1846-9_1846-6del
|
|
|
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
|
|
|
NM_000282.4(PCCA):c.1863A>C (p.Ala621=)
|
rs937736837
|
|
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
|
|
|
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.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+21_1899+24del
|
|
|
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.1900-20G>T
|
|
|
NM_000282.4(PCCA):c.1900-7C>T
|
|
|
NM_000282.4(PCCA):c.1900-8C>T
|
rs1480940423
|
|
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.1920C>T (p.Thr640=)
|
rs2152998162
|
|
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.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.1971C>T (p.Asp657=)
|
|
|
NM_000282.4(PCCA):c.1980T>C (p.Ser660=)
|
rs751989323
|
|
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
|
|
|
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
|
|
|
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
|
|
|
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>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
|
|
|
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+20C>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.2041-16C>T
|
|
|
NM_000282.4(PCCA):c.2041-8T>C
|
rs2153008293
|
|
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
|
rs745390236
|
|
NM_000282.4(PCCA):c.207T>C (p.Ala69=)
|
rs2152278538
|
|
NM_000282.4(PCCA):c.2094T>C (p.Ser698=)
|
rs2153008347
|
|
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
|
rs141926030
|
|
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
|
|
|
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
|
|
|
NM_000282.4(PCCA):c.2118+12_2118+19dup
|
|
|
NM_000282.4(PCCA):c.2118+18C>T
|
|
|
NM_000282.4(PCCA):c.2118+7C>T
|
|
|
NM_000282.4(PCCA):c.2119-17A>G
|
|
|
NM_000282.4(PCCA):c.2119-19G>A
|
rs1162118685
|
|
NM_000282.4(PCCA):c.2119-4C>T
|
|
|
NM_000282.4(PCCA):c.2124A>G (p.Lys708=)
|
rs2153010943
|
|
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
|
|
|
NM_000282.4(PCCA):c.2133C>T (p.His711=)
|
|
|
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
|
|
|
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
|
rs748808267
|
|
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
|
|
|
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+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.232-6A>T
|
rs527249599
|
|
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.267A>G (p.Thr89=)
|
rs2152279061
|
|
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.300+15G>A
|
|
|
NM_000282.4(PCCA):c.300+18T>C
|
|
|
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.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.31C>T (p.Leu11=)
|
|
|
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
|
rs922002208
|
|
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
|
|
|
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
|
rs1228885494
|
|
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
|
|
|
NM_000282.4(PCCA):c.378C>T (p.Ala126=)
|
rs2152382977
|
|
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
|
rs2152383018
|
|
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
|
|
|
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.415-10C>A
|
|
|
NM_000282.4(PCCA):c.415-13T>C
|
|
|
NM_000282.4(PCCA):c.415-4T>C
|
rs2152387053
|
|
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.441A>G (p.Ser147=)
|
|
|
NM_000282.4(PCCA):c.459C>T (p.Ala153=)
|
rs1358991180
|
|
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
|
|
|
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+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.474A>G (p.Ala158=)
|
|
|
NM_000282.4(PCCA):c.483C>G (p.Val161=)
|
|
|
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
|
|
|
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
|
|
|
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
|
|
|
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.576C>A (p.Ile192=)
|
|
|
NM_000282.4(PCCA):c.579T>G (p.Pro193=)
|
rs2152478869
|
|
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.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.603T>C (p.Asp201=)
|
rs773868428
|
|
NM_000282.4(PCCA):c.612A>G (p.Glu204=)
|
rs1594860188
|
|
NM_000282.4(PCCA):c.630G>A (p.Arg210=)
|
rs2152522233
|
|
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
|
|
|
NM_000282.4(PCCA):c.637+18C>T
|
rs758676556
|
|
NM_000282.4(PCCA):c.637+9T>G
|
rs2152522254
|
|
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.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.696T>G (p.Ala232=)
|
rs2152558384
|
|
NM_000282.4(PCCA):c.69G>A (p.Gln23=)
|
rs1593997093
|
|
NM_000282.4(PCCA):c.6G>A (p.Ala2=)
|
rs958365590
|
|
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
|
|
|
NM_000282.4(PCCA):c.716+16A>G
|
|
|
NM_000282.4(PCCA):c.716+20A>G
|
|
|
NM_000282.4(PCCA):c.717-15T>G
|
|
|
NM_000282.4(PCCA):c.717-19T>G
|
|
|
NM_000282.4(PCCA):c.717-5dup
|
rs2062610539
|
|
NM_000282.4(PCCA):c.717-8T>G
|
rs1367148068
|
|
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
|
rs2152189926
|
|
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
|
|
|
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
|
|
|
NM_000282.4(PCCA):c.747T>C (p.Ala249=)
|
rs1594992384
|
|
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.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.780A>T (p.Ile260=)
|
rs1451573276
|
|
NM_000282.4(PCCA):c.783A>G (p.Glu261=)
|
rs917366865
|
|
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.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+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.820-8T>C
|
|
|
NM_000282.4(PCCA):c.820-9C>T
|
rs1371297395
|
|
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
|
rs911990330
|
|
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
|
|
|
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
|
|
|
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
|
|
|
NM_000282.4(PCCA):c.880A>C (p.Arg294=)
|
rs2063109467
|
|
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.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+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.914+9C>T
|
|
|
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.915-4G>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.91C>T (p.Leu31=)
|
rs2152190063
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
|
rs377248400
|
|
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.94C>A (p.Arg32=)
|
rs2152190089
|
|
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
|
rs2152588516
|
|
NM_000282.4(PCCA):c.957A>G (p.Gln319=)
|
rs756496977
|
|
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
|
|
|
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
|
rs2152588623
|
|
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.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_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
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.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.1044T>C (p.Asn348=)
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
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.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+7T>C
|
rs2108226731
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
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.1091-4C>T
|
rs759283485
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
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.1164C>T (p.Leu388=)
|
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
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.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.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.1199-20T>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.1228C>A (p.Arg410=)
|
rs121964959
|
|
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.1254A>G (p.Ala418=)
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
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.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+7A>T
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
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.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.1350T>C (p.Asp450=)
|
rs1935374974
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
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.1395A>G (p.Ala465=)
|
|
|
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+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.1399-5C>G
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
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.1425G>T (p.Gly475=)
|
|
|
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.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.1482C>T (p.Phe494=)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
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+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.1499-4C>T
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
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.1515C>T (p.Ile505=)
|
rs2108241650
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
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.1542A>C (p.Arg514=)
|
rs1337219671
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
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.183+12G>A
|
|
|
NM_000532.5(PCCB):c.183+13G>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+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+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.184-5T>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.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.210C>T (p.Ile70=)
|
rs1195573163
|
|
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.231C>G (p.Gly77=)
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
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.27G>C (p.Ala9=)
|
rs1402404407
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
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+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.304-20T>C
|
|
|
NM_000532.5(PCCB):c.304-20T>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.304-9T>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.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.336C>T (p.Gly112=)
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
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.373-17T>A
|
|
|
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.387T>C (p.Phe129=)
|
rs1576405957
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
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+20A>G
|
rs1282306131
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
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.430-14C>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.430-9C>T
|
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
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.459T>A (p.Ala153=)
|
rs2108146658
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
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.528T>C (p.Tyr176=)
|
rs2108146812
|
|
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+8A>G
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
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.594C>G (p.Gly198=)
|
rs1933215700
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
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+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.655-7del
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
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.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.711G>A (p.Glu237=)
|
|
|
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.750C>T (p.His250=)
|
rs1255224715
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
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.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.774C>T (p.His258=)
|
rs141615209
|
|
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.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.828C>T (p.Asn276=)
|
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
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.876C>T (p.His292=)
|
rs776893713
|
|
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+8G>A
|
rs187345727
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
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+20G>T
|
|
|
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.967-4G>T
|
rs2108226511
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
NM_000532.5(PCCB):c.967-7C>T
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NM_000532.5(PCCB):c.967-8dup
|
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NM_000532.5(PCCB):c.96C>A (p.Ala32=)
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rs2108127912
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NM_000532.5(PCCB):c.96C>T (p.Ala32=)
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rs2108127912
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NM_000532.5(PCCB):c.980G>A (p.Arg327His)
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NM_000532.5(PCCB):c.99C>G (p.Thr33=)
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NM_000532.5(PCCB):c.99C>T (p.Thr33=)
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NM_000532.5(PCCB):c.9G>A (p.Ala3=)
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rs763025114
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