NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_000282.4(PCCA):c.1644-31A>G
|
rs9518061
|
0.66246
|
NM_000282.4(PCCA):c.2118+191G>C
|
rs837335
|
0.61718
|
NM_000282.4(PCCA):c.2119-204A>G
|
rs857294
|
0.57972
|
NM_000282.4(PCCA):c.105+273G>A
|
rs7984311
|
0.43949
|
NM_000282.4(PCCA):c.184-305T>C
|
rs4772265
|
0.33019
|
NM_000282.4(PCCA):c.2040+172C>T
|
rs837286
|
0.32064
|
NM_000282.4(PCCA):c.2040+242G>T
|
rs61614293
|
0.27240
|
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_000282.4(PCCA):c.300+300T>C
|
rs73570922
|
0.16052
|
NM_000282.4(PCCA):c.469-324C>T
|
rs17196604
|
0.15791
|
NM_000282.4(PCCA):c.468+211A>G
|
rs1556800
|
0.14260
|
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.1746+98T>A
|
rs10508043
|
0.11075
|
NM_000282.4(PCCA):c.1747-161C>T
|
rs75527610
|
0.09557
|
NM_000282.4(PCCA):c.1747-113G>A
|
rs62619988
|
0.05240
|
NM_000282.4(PCCA):c.601-91G>A
|
rs7319215
|
0.04363
|
NM_000282.4(PCCA):c.1747-276del
|
rs35930661
|
0.04340
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_000282.4(PCCA):c.106-301C>T
|
rs9300586
|
0.03938
|
NM_000282.4(PCCA):c.820-96A>G
|
rs79631831
|
0.03663
|
NM_000282.4(PCCA):c.600+325T>A
|
rs113566641
|
0.03442
|
NM_000282.4(PCCA):c.1644-101A>T
|
rs9585419
|
0.03318
|
NM_000282.4(PCCA):c.1644-84T>C
|
rs16957348
|
0.03313
|
NM_000282.4(PCCA):c.1746+248G>A
|
rs78735612
|
0.03313
|
NM_000282.4(PCCA):c.415-132T>A
|
rs111596243
|
0.01869
|
NM_000282.4(PCCA):c.414+276G>T
|
rs77110421
|
0.01860
|
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)
|
rs16957356
|
0.01499
|
NM_000282.4(PCCA):c.819+251T>A
|
rs115019877
|
0.01480
|
NM_000282.4(PCCA):c.1285-1674C>T
|
rs73573293
|
0.01208
|
NM_000282.4(PCCA):c.1846-43G>C
|
rs1283293
|
0.00966
|
NM_000282.4(PCCA):c.106-210C>T
|
rs117350137
|
0.00769
|
NM_000282.4(PCCA):c.2119-43T>C
|
rs150390822
|
0.00754
|
NM_000282.4(PCCA):c.2041-223A>G
|
rs113703781
|
0.00752
|
NM_000282.4(PCCA):c.1846-273A>G
|
rs139759394
|
0.00626
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_000282.4(PCCA):c.2119-63C>T
|
rs58234976
|
0.00582
|
NM_000282.4(PCCA):c.2118+187C>T
|
rs114155597
|
0.00575
|
NM_000282.4(PCCA):c.2118+50C>T
|
rs72661023
|
0.00559
|
NM_000282.4(PCCA):c.1429+60G>T
|
rs144741192
|
0.00396
|
NM_000282.4(PCCA):c.1285-1160G>C
|
rs139574237
|
0.00395
|
NM_000282.4(PCCA):c.1285-90T>C
|
rs116097588
|
0.00395
|
NM_000282.4(PCCA):c.914+58T>A
|
rs536059838
|
0.00368
|
NM_000282.4(PCCA):c.1285-63G>A
|
rs183060638
|
0.00337
|
NC_000013.11:g.100089052T>G
|
rs368695107
|
0.00321
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
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.469-43C>T
|
rs142134673
|
0.00205
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
NM_000282.4(PCCA):c.300+3930C>T
|
rs767934206
|
0.00105
|
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_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_000282.4(PCCA):c.1131T>G (p.Ala377=)
|
rs754991015
|
0.00019
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000282.4(PCCA):c.24A>G (p.Thr8=)
|
rs117397004
|
0.00013
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000282.4(PCCA):c.2118+988G>A
|
rs556040424
|
0.00004
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
NM_000282.4(PCCA):c.415-9A>G
|
rs1057520932
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
NM_000282.4(PCCA):c.1747-3C>G
|
rs1555455109
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
GRCh37/hg19 13q32.3(chr13:100825782-100942854)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100893208-101016939)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100909075-101043671)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100934274-101067851)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100934274-101069066)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100955214-101068723)x1
|
|
|
GRCh37/hg19 13q32.3(chr13:100964141-100996801)x1
|
|
|
NM_000282.4(PCCA):c.1003G>A (p.Val335Met)
|
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1129G>A (p.Ala377Thr)
|
|
|
NM_000282.4(PCCA):c.1136G>T (p.Gly379Val)
|
rs794727087
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
NM_000282.4(PCCA):c.1241T>C (p.Ile414Thr)
|
|
|
NM_000282.4(PCCA):c.1285-13_1285-6del
|
rs535982202
|
|
NM_000282.4(PCCA):c.1354-88T>G
|
rs181511046
|
|
NM_000282.4(PCCA):c.1354-8G>T
|
rs1375878402
|
|
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)
|
rs2152697481
|
|
NM_000282.4(PCCA):c.1558A>G (p.Ser520Gly)
|
rs112237881
|
|
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer)
|
rs1555425572
|
|
NM_000282.4(PCCA):c.1643+1155C>A
|
|
|
NM_000282.4(PCCA):c.183+274_183+277del
|
rs140795575
|
|
NM_000282.4(PCCA):c.1846-38_1846-35dup
|
rs200232606
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2040+114G>C
|
rs837285
|
|
NM_000282.4(PCCA):c.2040+118C>T
|
rs36103425
|
|
NM_000282.4(PCCA):c.2040+234G>T
|
rs75185727
|
|
NM_000282.4(PCCA):c.2041-187A>T
|
rs112558130
|
|
NM_000282.4(PCCA):c.2118+1G>A
|
rs886043045
|
|
NM_000282.4(PCCA):c.2118G>C (p.Thr706=)
|
rs758468297
|
|
NM_000282.4(PCCA):c.2119-140GGTGG[2]
|
rs3059677
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
NM_000282.4(PCCA):c.2133C>G (p.His711Gln)
|
|
|
NM_000282.4(PCCA):c.232-9T>C
|
|
|
NM_000282.4(PCCA):c.301-109_301-108del
|
rs139768303
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.414+104C>T
|
rs9585366
|
|
NM_000282.4(PCCA):c.414+81dup
|
rs3215976
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.468+148G>T
|
rs77295050
|
|
NM_000282.4(PCCA):c.600+97AC[9]
|
rs34598548
|
|
NM_000282.4(PCCA):c.638-207dup
|
rs75177113
|
|
NM_000282.4(PCCA):c.686T>A (p.Met229Lys)
|
rs375628794
|
|
NM_000282.4(PCCA):c.717-280A>T
|
rs117888540
|
|
NM_000282.4(PCCA):c.717-323dup
|
rs573486449
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
NM_000282.4(PCCA):c.806A>G (p.His269Arg)
|
rs886039751
|
|
NM_000282.4(PCCA):c.914+46TTCA[3]
|
rs113891803
|
|
NM_000282.4(PCCA):c.914+46TTCA[7]
|
rs113891803
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|