NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg)
|
rs148384323
|
0.00073
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
|
rs142318247
|
0.00065
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn)
|
rs146728385
|
0.00056
|
NM_006031.6(PCNT):c.8431G>T (p.Val2811Leu)
|
rs144757781
|
0.00055
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)
|
rs147358856
|
0.00043
|
NM_006031.6(PCNT):c.9968-3C>T
|
rs182378192
|
0.00043
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)
|
rs138254119
|
0.00038
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)
|
rs145055342
|
0.00032
|
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val)
|
rs144963695
|
0.00032
|
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp)
|
rs202246527
|
0.00031
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)
|
rs148389745
|
0.00029
|
NM_006031.6(PCNT):c.2154G>A (p.Lys718=)
|
rs147878958
|
0.00028
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_006031.6(PCNT):c.3853C>T (p.Arg1285Cys)
|
rs150564059
|
0.00026
|
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln)
|
rs370021414
|
0.00024
|
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
|
rs141304187
|
0.00024
|
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu)
|
rs781468861
|
0.00022
|
NM_006031.6(PCNT):c.7345T>A (p.Trp2449Arg)
|
rs199778396
|
0.00022
|
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met)
|
rs777841149
|
0.00021
|
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile)
|
rs113208348
|
0.00020
|
NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro)
|
rs149214680
|
0.00019
|
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro)
|
rs113536916
|
0.00019
|
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys)
|
rs376696104
|
0.00019
|
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)
|
rs112231246
|
0.00018
|
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe)
|
rs375312732
|
0.00017
|
NM_006031.6(PCNT):c.8064+6_8064+7del
|
rs768943958
|
0.00017
|
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=)
|
rs1128166
|
0.00017
|
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)
|
rs201176638
|
0.00016
|
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn)
|
rs142402562
|
0.00016
|
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu)
|
rs548287016
|
0.00016
|
NM_006031.6(PCNT):c.7058C>G (p.Pro2353Arg)
|
rs139978398
|
0.00016
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp)
|
rs572076735
|
0.00015
|
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys)
|
rs369586175
|
0.00014
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His)
|
rs201536644
|
0.00014
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
NM_006031.6(PCNT):c.776C>T (p.Thr259Met)
|
rs141575204
|
0.00014
|
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)
|
rs372356069
|
0.00014
|
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met)
|
rs371058544
|
0.00014
|
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)
|
rs149844283
|
0.00014
|
NM_006031.6(PCNT):c.6977G>A (p.Ser2326Asn)
|
rs201728927
|
0.00013
|
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln)
|
rs199661615
|
0.00011
|
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val)
|
rs373238616
|
0.00011
|
NM_006031.6(PCNT):c.5704C>T (p.Arg1902Cys)
|
rs752178247
|
0.00011
|
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His)
|
rs140416280
|
0.00011
|
NM_006031.6(PCNT):c.3730A>G (p.Met1244Val)
|
rs372323744
|
0.00010
|
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
|
rs202005598
|
0.00010
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
NM_006031.6(PCNT):c.947A>T (p.Glu316Val)
|
rs201194745
|
0.00010
|
NM_006031.6(PCNT):c.1490G>A (p.Arg497His)
|
rs150365416
|
0.00009
|
NM_006031.6(PCNT):c.1828T>C (p.Ser610Pro)
|
rs141582787
|
0.00009
|
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)
|
rs143870030
|
0.00009
|
NM_006031.6(PCNT):c.4201G>A (p.Glu1401Lys)
|
rs776308749
|
0.00009
|
NM_006031.6(PCNT):c.4442T>C (p.Met1481Thr)
|
rs376604964
|
0.00009
|
NM_006031.6(PCNT):c.4519C>T (p.Arg1507Cys)
|
rs138898378
|
0.00009
|
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val)
|
rs138175397
|
0.00009
|
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=)
|
rs141860893
|
0.00009
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His)
|
rs199936673
|
0.00009
|
NM_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser)
|
rs779546932
|
0.00009
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
NM_006031.6(PCNT):c.5994+4G>A
|
rs781737632
|
0.00008
|
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr)
|
rs769183047
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_006031.6(PCNT):c.6887C>T (p.Pro2296Leu)
|
rs199844366
|
0.00008
|
NM_006031.6(PCNT):c.6904G>A (p.Val2302Met)
|
rs374601017
|
0.00008
|
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile)
|
rs201507947
|
0.00007
|
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln)
|
rs756810982
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)
|
rs774241611
|
0.00007
|
NM_006031.6(PCNT):c.4193C>T (p.Thr1398Met)
|
rs369257031
|
0.00007
|
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys)
|
rs748260212
|
0.00007
|
NM_006031.6(PCNT):c.6425T>C (p.Ile2142Thr)
|
rs373849607
|
0.00007
|
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile)
|
rs754586558
|
0.00007
|
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met)
|
rs372895276
|
0.00007
|
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)
|
rs761540486
|
0.00006
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn)
|
rs775413533
|
0.00006
|
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
|
rs200137805
|
0.00006
|
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser)
|
rs371054707
|
0.00006
|
NM_006031.6(PCNT):c.7558G>A (p.Glu2520Lys)
|
rs375572719
|
0.00006
|
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val)
|
rs150303409
|
0.00006
|
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met)
|
rs780988556
|
0.00006
|
NM_006031.6(PCNT):c.8188G>A (p.Glu2730Lys)
|
rs201840054
|
0.00006
|
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln)
|
rs568559091
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg)
|
rs373681566
|
0.00006
|
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln)
|
rs200148867
|
0.00005
|
NM_006031.6(PCNT):c.389A>G (p.His130Arg)
|
rs57046460
|
0.00005
|
NM_006031.6(PCNT):c.4962+3G>A
|
rs376215188
|
0.00005
|
NM_006031.6(PCNT):c.6922-4A>G
|
rs587784317
|
0.00005
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu)
|
rs769852846
|
0.00005
|
NM_006031.6(PCNT):c.7573C>T (p.Arg2525Cys)
|
rs143367154
|
0.00005
|
NM_006031.6(PCNT):c.7577C>G (p.Ala2526Gly)
|
rs746987536
|
0.00005
|
NM_006031.6(PCNT):c.7913+4C>T
|
rs376736200
|
0.00005
|
NM_006031.6(PCNT):c.7951G>A (p.Ala2651Thr)
|
rs760162051
|
0.00005
|
NM_006031.6(PCNT):c.8209C>T (p.Arg2737Trp)
|
rs369377623
|
0.00005
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_006031.6(PCNT):c.1820C>T (p.Ala607Val)
|
rs146189038
|
0.00004
|
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp)
|
rs768518510
|
0.00004
|
NM_006031.6(PCNT):c.2282G>A (p.Arg761Gln)
|
rs538499651
|
0.00004
|
NM_006031.6(PCNT):c.2872G>A (p.Gly958Ser)
|
rs541135644
|
0.00004
|
NM_006031.6(PCNT):c.3313C>T (p.Leu1105=)
|
rs1029955995
|
0.00004
|
NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu)
|
rs749542536
|
0.00004
|
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys)
|
rs778468425
|
0.00004
|
NM_006031.6(PCNT):c.4424G>A (p.Arg1475His)
|
rs751714492
|
0.00004
|
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly)
|
rs755909353
|
0.00004
|
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)
|
rs746468689
|
0.00004
|
NM_006031.6(PCNT):c.5791C>T (p.Arg1931Cys)
|
rs771047395
|
0.00004
|
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu)
|
rs774248299
|
0.00004
|
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln)
|
rs753398573
|
0.00004
|
NM_006031.6(PCNT):c.591C>G (p.Ile197Met)
|
rs559031201
|
0.00004
|
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser)
|
rs10222114
|
0.00004
|
NM_006031.6(PCNT):c.622C>T (p.Arg208Cys)
|
rs147670433
|
0.00004
|
NM_006031.6(PCNT):c.6404C>T (p.Thr2135Met)
|
rs145710874
|
0.00004
|
NM_006031.6(PCNT):c.685G>A (p.Gly229Ser)
|
rs750556592
|
0.00004
|
NM_006031.6(PCNT):c.7271G>A (p.Arg2424Gln)
|
rs371893416
|
0.00004
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
NM_006031.6(PCNT):c.7690+3G>C
|
rs955395192
|
0.00004
|
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe)
|
rs199981467
|
0.00004
|
NM_006031.6(PCNT):c.8243C>T (p.Ala2748Val)
|
rs569798532
|
0.00004
|
NM_006031.6(PCNT):c.8888C>T (p.Ser2963Leu)
|
rs374903045
|
0.00004
|
NM_006031.6(PCNT):c.9173C>T (p.Ala3058Val)
|
rs778401682
|
0.00004
|
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys)
|
rs1007600831
|
0.00004
|
NM_006031.6(PCNT):c.9649C>G (p.Gln3217Glu)
|
rs200431921
|
0.00004
|
NM_006031.6(PCNT):c.1032+6C>T
|
rs367920438
|
0.00003
|
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser)
|
rs371296160
|
0.00003
|
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu)
|
rs756261885
|
0.00003
|
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly)
|
rs771897801
|
0.00003
|
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp)
|
rs138361417
|
0.00003
|
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro)
|
rs778900170
|
0.00003
|
NM_006031.6(PCNT):c.5425C>G (p.Gln1809Glu)
|
rs1225828617
|
0.00003
|
NM_006031.6(PCNT):c.5492C>T (p.Ala1831Val)
|
rs761263896
|
0.00003
|
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)
|
rs758705082
|
0.00003
|
NM_006031.6(PCNT):c.6844G>A (p.Val2282Met)
|
rs747273657
|
0.00003
|
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)
|
rs572123043
|
0.00003
|
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu)
|
rs151230453
|
0.00003
|
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys)
|
rs751297741
|
0.00003
|
NM_006031.6(PCNT):c.7236C>T (p.Gly2412=)
|
rs773500833
|
0.00003
|
NM_006031.6(PCNT):c.7252G>A (p.Gly2418Ser)
|
rs201389292
|
0.00003
|
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys)
|
rs778163048
|
0.00003
|
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln)
|
rs149779006
|
0.00003
|
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp)
|
rs761885630
|
0.00003
|
NM_006031.6(PCNT):c.863G>A (p.Arg288His)
|
rs542099749
|
0.00003
|
NM_006031.6(PCNT):c.8884G>A (p.Gly2962Ser)
|
rs542238990
|
0.00003
|
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys)
|
rs775636867
|
0.00003
|
NM_006031.6(PCNT):c.1018G>A (p.Ala340Thr)
|
rs775338231
|
0.00002
|
NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys)
|
rs750239503
|
0.00002
|
NM_006031.6(PCNT):c.1775G>A (p.Arg592His)
|
rs754798472
|
0.00002
|
NM_006031.6(PCNT):c.2522G>A (p.Arg841Gln)
|
rs545597119
|
0.00002
|
NM_006031.6(PCNT):c.2567T>G (p.Val856Gly)
|
rs755388467
|
0.00002
|
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly)
|
rs145451194
|
0.00002
|
NM_006031.6(PCNT):c.3263A>G (p.Lys1088Arg)
|
rs536739614
|
0.00002
|
NM_006031.6(PCNT):c.3557G>A (p.Arg1186His)
|
rs751935483
|
0.00002
|
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)
|
rs761299168
|
0.00002
|
NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)
|
rs751846963
|
0.00002
|
NM_006031.6(PCNT):c.4172G>A (p.Ser1391Asn)
|
rs764095531
|
0.00002
|
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys)
|
rs200606073
|
0.00002
|
NM_006031.6(PCNT):c.545G>A (p.Arg182His)
|
rs193268784
|
0.00002
|
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg)
|
rs775387368
|
0.00002
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
NM_006031.6(PCNT):c.7316C>T (p.Thr2439Met)
|
rs141561546
|
0.00002
|
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys)
|
rs148485670
|
0.00002
|
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His)
|
rs778334017
|
0.00002
|
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln)
|
rs747159043
|
0.00002
|
NM_006031.6(PCNT):c.8953G>C (p.Ala2985Pro)
|
rs188889473
|
0.00002
|
NM_006031.6(PCNT):c.9307A>T (p.Thr3103Ser)
|
rs762519501
|
0.00002
|
NM_006031.6(PCNT):c.9553G>A (p.Glu3185Lys)
|
rs375163327
|
0.00002
|
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg)
|
rs794727685
|
0.00001
|
NM_006031.6(PCNT):c.1069T>C (p.Cys357Arg)
|
rs549300488
|
0.00001
|
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys)
|
rs777707751
|
0.00001
|
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile)
|
rs745322520
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006031.6(PCNT):c.1918T>G (p.Ser640Ala)
|
rs560044100
|
0.00001
|
NM_006031.6(PCNT):c.2645T>G (p.Phe882Cys)
|
rs778799946
|
0.00001
|
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr)
|
rs776133593
|
0.00001
|
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln)
|
rs577883327
|
0.00001
|
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)
|
rs776993806
|
0.00001
|
NM_006031.6(PCNT):c.3130G>A (p.Gly1044Arg)
|
rs771804321
|
0.00001
|
NM_006031.6(PCNT):c.3179_3199dup (p.Leu1066_His1067insArgGluLysLysThrAlaLeu)
|
rs1363262432
|
0.00001
|
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)
|
rs762148129
|
0.00001
|
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala)
|
rs1389951479
|
0.00001
|
NM_006031.6(PCNT):c.3854G>A (p.Arg1285His)
|
rs749730475
|
0.00001
|
NM_006031.6(PCNT):c.4264A>G (p.Arg1422Gly)
|
rs752416084
|
0.00001
|
NM_006031.6(PCNT):c.4459G>A (p.Glu1487Lys)
|
rs368525476
|
0.00001
|
NM_006031.6(PCNT):c.4535C>T (p.Pro1512Leu)
|
rs916821322
|
0.00001
|
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn)
|
rs886042852
|
0.00001
|
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val)
|
rs766280665
|
0.00001
|
NM_006031.6(PCNT):c.4684G>C (p.Glu1562Gln)
|
rs981076771
|
0.00001
|
NM_006031.6(PCNT):c.4821G>T (p.Met1607Ile)
|
rs147398973
|
0.00001
|
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu)
|
rs775246257
|
0.00001
|
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala)
|
rs535358423
|
0.00001
|
NM_006031.6(PCNT):c.5350C>T (p.Arg1784Cys)
|
rs776352984
|
0.00001
|
NM_006031.6(PCNT):c.5432G>A (p.Arg1811His)
|
rs769452431
|
0.00001
|
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly)
|
rs201943167
|
0.00001
|
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met)
|
rs775982969
|
0.00001
|
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly)
|
rs1352792544
|
0.00001
|
NM_006031.6(PCNT):c.5737G>A (p.Gly1913Arg)
|
rs776924524
|
0.00001
|
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)
|
rs758977418
|
0.00001
|
NM_006031.6(PCNT):c.6044A>G (p.Lys2015Arg)
|
rs1297236046
|
0.00001
|
NM_006031.6(PCNT):c.6124C>T (p.Arg2042Cys)
|
rs751776662
|
0.00001
|
NM_006031.6(PCNT):c.6150+6G>A
|
rs369584693
|
0.00001
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu)
|
rs747212974
|
0.00001
|
NM_006031.6(PCNT):c.7111A>G (p.Ile2371Val)
|
rs770416863
|
0.00001
|
NM_006031.6(PCNT):c.7255G>A (p.Glu2419Lys)
|
rs750214590
|
0.00001
|
NM_006031.6(PCNT):c.7528C>T (p.Arg2510Cys)
|
rs146486696
|
0.00001
|
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His)
|
rs940897400
|
0.00001
|
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln)
|
rs981766239
|
0.00001
|
NM_006031.6(PCNT):c.8106T>A (p.Ser2702Arg)
|
rs752649239
|
0.00001
|
NM_006031.6(PCNT):c.8679G>C (p.Arg2893Ser)
|
rs748806254
|
0.00001
|
NM_006031.6(PCNT):c.874C>G (p.Leu292Val)
|
rs762961416
|
0.00001
|
NM_006031.6(PCNT):c.8770C>T (p.Arg2924Cys)
|
rs559208618
|
0.00001
|
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His)
|
rs139830890
|
0.00001
|
NM_006031.6(PCNT):c.8957C>T (p.Ala2986Val)
|
rs201069257
|
0.00001
|
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met)
|
rs781469305
|
0.00001
|
NM_006031.6(PCNT):c.9212G>A (p.Arg3071Lys)
|
rs1455899311
|
0.00001
|
NM_006031.6(PCNT):c.9539T>G (p.Phe3180Cys)
|
rs1343505317
|
0.00001
|
NM_006031.6(PCNT):c.9593C>T (p.Thr3198Met)
|
rs543002268
|
0.00001
|
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys)
|
rs374027088
|
0.00001
|
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys)
|
rs537151957
|
0.00001
|
NM_006031.6(PCNT):c.976+4C>G
|
rs1380660060
|
0.00001
|
NM_006031.6(PCNT):c.9842C>T (p.Ala3281Val)
|
rs988693930
|
0.00001
|
NC_000021.8:g.(?_47831083)_(47842058_?)dup
|
|
|
NC_000021.8:g.(?_47848289)_(47865240_?)dup
|
|
|
NM_006031.6(PCNT):c.1000T>A (p.Ser334Thr)
|
rs772659788
|
|
NM_006031.6(PCNT):c.1169A>G (p.Glu390Gly)
|
|
|
NM_006031.6(PCNT):c.1180A>G (p.Ile394Val)
|
rs2146590047
|
|
NM_006031.6(PCNT):c.1229G>A (p.Ser410Asn)
|
|
|
NM_006031.6(PCNT):c.1241C>T (p.Ala414Val)
|
rs2084199246
|
|
NM_006031.6(PCNT):c.1259G>A (p.Arg420His)
|
|
|
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys)
|
rs1555953206
|
|
NM_006031.6(PCNT):c.1447G>A (p.Glu483Lys)
|
|
|
NM_006031.6(PCNT):c.1480C>T (p.Arg494Cys)
|
|
|
NM_006031.6(PCNT):c.1481G>C (p.Arg494Pro)
|
|
|
NM_006031.6(PCNT):c.1538A>T (p.Glu513Val)
|
rs2146654182
|
|
NM_006031.6(PCNT):c.1552C>A (p.Gln518Lys)
|
|
|
NM_006031.6(PCNT):c.1584G>C (p.Arg528Ser)
|
|
|
NM_006031.6(PCNT):c.1585G>C (p.Asp529His)
|
|
|
NM_006031.6(PCNT):c.1680G>A (p.Gly560=)
|
|
|
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1727A>T (p.Asp576Val)
|
|
|
NM_006031.6(PCNT):c.1729C>T (p.His577Tyr)
|
|
|
NM_006031.6(PCNT):c.1762-14_1762-13insTAGT
|
rs771981795
|
|
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val)
|
rs2084439675
|
|
NM_006031.6(PCNT):c.1900G>A (p.Glu634Lys)
|
|
|
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu)
|
rs150892737
|
|
NM_006031.6(PCNT):c.1996C>T (p.Arg666Trp)
|
rs774325418
|
|
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala)
|
|
|
NM_006031.6(PCNT):c.207T>G (p.Ile69Met)
|
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.2119C>G (p.Gln707Glu)
|
rs2084508666
|
|
NM_006031.6(PCNT):c.2132G>A (p.Arg711His)
|
|
|
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val)
|
rs483352730
|
|
NM_006031.6(PCNT):c.2207A>G (p.Gln736Arg)
|
|
|
NM_006031.6(PCNT):c.2273A>G (p.Glu758Gly)
|
|
|
NM_006031.6(PCNT):c.2451G>T (p.Gln817His)
|
rs771463564
|
|
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg)
|
rs886042361
|
|
NM_006031.6(PCNT):c.2488T>A (p.Ser830Thr)
|
rs1268691558
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.2516G>T (p.Cys839Phe)
|
rs1189857776
|
|
NM_006031.6(PCNT):c.2521C>T (p.Arg841Trp)
|
|
|
NM_006031.6(PCNT):c.2556_2559delinsCTTT (p.Ala853Phe)
|
rs2146858439
|
|
NM_006031.6(PCNT):c.2597T>A (p.Leu866Gln)
|
|
|
NM_006031.6(PCNT):c.2603G>A (p.Arg868Gln)
|
|
|
NM_006031.6(PCNT):c.2609+4G>A
|
|
|
NM_006031.6(PCNT):c.2615T>C (p.Leu872Ser)
|
rs2084937959
|
|
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr)
|
rs768342760
|
|
NM_006031.6(PCNT):c.2638G>A (p.Glu880Lys)
|
|
|
NM_006031.6(PCNT):c.2661T>A (p.Asp887Glu)
|
|
|
NM_006031.6(PCNT):c.2663C>T (p.Ala888Val)
|
|
|
NM_006031.6(PCNT):c.2695C>T (p.Arg899Cys)
|
|
|
NM_006031.6(PCNT):c.2716G>A (p.Glu906Lys)
|
rs2146921088
|
|
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val)
|
rs763541418
|
|
NM_006031.6(PCNT):c.2782G>C (p.Gly928Arg)
|
|
|
NM_006031.6(PCNT):c.2785G>A (p.Glu929Lys)
|
|
|
NM_006031.6(PCNT):c.2834G>A (p.Arg945His)
|
rs183691508
|
|
NM_006031.6(PCNT):c.2852C>A (p.Thr951Lys)
|
|
|
NM_006031.6(PCNT):c.2881G>C (p.Glu961Gln)
|
|
|
NM_006031.6(PCNT):c.2945T>C (p.Ile982Thr)
|
|
|
NM_006031.6(PCNT):c.2964G>T (p.Gln988His)
|
|
|
NM_006031.6(PCNT):c.298G>A (p.Asp100Asn)
|
|
|
NM_006031.6(PCNT):c.3064A>G (p.Lys1022Glu)
|
|
|
NM_006031.6(PCNT):c.3083A>G (p.Gln1028Arg)
|
|
|
NM_006031.6(PCNT):c.3085T>C (p.Ser1029Pro)
|
rs1054600402
|
|
NM_006031.6(PCNT):c.3086C>G (p.Ser1029Cys)
|
|
|
NM_006031.6(PCNT):c.3091C>G (p.Arg1031Gly)
|
rs766301934
|
|
NM_006031.6(PCNT):c.3104G>A (p.Arg1035Gln)
|
|
|
NM_006031.6(PCNT):c.3118A>G (p.Thr1040Ala)
|
|
|
NM_006031.6(PCNT):c.3133A>G (p.Thr1045Ala)
|
rs1251042241
|
|
NM_006031.6(PCNT):c.3157G>A (p.Val1053Met)
|
rs2146927861
|
|
NM_006031.6(PCNT):c.3175G>A (p.Gly1059Arg)
|
|
|
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)
|
rs138834119
|
|
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His)
|
rs986050062
|
|
NM_006031.6(PCNT):c.3336A>C (p.Leu1112Phe)
|
|
|
NM_006031.6(PCNT):c.3339T>G (p.Ser1113Arg)
|
rs61735805
|
|
NM_006031.6(PCNT):c.3340C>T (p.His1114Tyr)
|
|
|
NM_006031.6(PCNT):c.3358C>T (p.Arg1120Cys)
|
rs375135272
|
|
NM_006031.6(PCNT):c.335A>G (p.His112Arg)
|
|
|
NM_006031.6(PCNT):c.3367_3372del (p.Leu1123_Glu1124del)
|
|
|
NM_006031.6(PCNT):c.3428T>C (p.Met1143Thr)
|
rs746010044
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
NM_006031.6(PCNT):c.3442G>A (p.Val1148Ile)
|
|
|
NM_006031.6(PCNT):c.3463A>C (p.Arg1155=)
|
rs775021770
|
|
NM_006031.6(PCNT):c.3464+4A>T
|
rs1555971930
|
|
NM_006031.6(PCNT):c.3478G>C (p.Asp1160His)
|
|
|
NM_006031.6(PCNT):c.3481G>A (p.Ala1161Thr)
|
rs150279909
|
|
NM_006031.6(PCNT):c.3481G>T (p.Ala1161Ser)
|
rs150279909
|
|
NM_006031.6(PCNT):c.3544C>T (p.Arg1182Trp)
|
|
|
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg)
|
rs752738005
|
|
NM_006031.6(PCNT):c.3586G>A (p.Ala1196Thr)
|
|
|
NM_006031.6(PCNT):c.3608-20G>A
|
|
|
NM_006031.6(PCNT):c.3617T>G (p.Leu1206Arg)
|
rs1430261995
|
|
NM_006031.6(PCNT):c.362C>T (p.Thr121Ile)
|
|
|
NM_006031.6(PCNT):c.3740A>G (p.Glu1247Gly)
|
rs779953366
|
|
NM_006031.6(PCNT):c.3813G>A (p.Met1271Ile)
|
|
|
NM_006031.6(PCNT):c.3851C>T (p.Ala1284Val)
|
|
|
NM_006031.6(PCNT):c.3857A>G (p.Gln1286Arg)
|
rs2086002722
|
|
NM_006031.6(PCNT):c.3897T>A (p.Asn1299Lys)
|
rs1601936257
|
|
NM_006031.6(PCNT):c.3971C>T (p.Ala1324Val)
|
rs2147300447
|
|
NM_006031.6(PCNT):c.397T>A (p.Phe133Ile)
|
|
|
NM_006031.6(PCNT):c.4004-14T>G
|
|
|
NM_006031.6(PCNT):c.403G>A (p.Val135Ile)
|
|
|
NM_006031.6(PCNT):c.4045G>A (p.Glu1349Lys)
|
rs2147306221
|
|
NM_006031.6(PCNT):c.406_444del (p.Gly136_Val148del)
|
rs748692891
|
|
NM_006031.6(PCNT):c.406_444dup (p.Val148_Ser149insGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
|
|
NM_006031.6(PCNT):c.406_483del (p.Gly136_Val161del)
|
rs2146357648
|
|
NM_006031.6(PCNT):c.4132G>A (p.Glu1378Lys)
|
|
|
NM_006031.6(PCNT):c.4177G>A (p.Gly1393Arg)
|
rs753662756
|
|
NM_006031.6(PCNT):c.419C>T (p.Pro140Leu)
|
|
|
NM_006031.6(PCNT):c.4250A>G (p.Glu1417Gly)
|
|
|
NM_006031.6(PCNT):c.4276G>A (p.Glu1426Lys)
|
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
NM_006031.6(PCNT):c.428_466del (p.Arg143_Gln155del)
|
|
|
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup)
|
rs759009997
|
|
NM_006031.6(PCNT):c.4305G>C (p.Gln1435His)
|
|
|
NM_006031.6(PCNT):c.4309A>C (p.Lys1437Gln)
|
rs2147401506
|
|
NM_006031.6(PCNT):c.430G>A (p.Gly144Arg)
|
rs761827077
|
|
NM_006031.6(PCNT):c.4336C>G (p.Gln1446Glu)
|
|
|
NM_006031.6(PCNT):c.4352G>A (p.Arg1451His)
|
|
|
NM_006031.6(PCNT):c.4436A>C (p.Gln1479Pro)
|
|
|
NM_006031.6(PCNT):c.4441A>G (p.Met1481Val)
|
|
|
NM_006031.6(PCNT):c.444_445insTGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val148_Ser149insCysAspHisProProGluGlnHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
|
|
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly)
|
rs111737555
|
|
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys)
|
rs111737555
|
|
NM_006031.6(PCNT):c.4477G>A (p.Glu1493Lys)
|
|
|
NM_006031.6(PCNT):c.4484T>C (p.Phe1495Ser)
|
|
|
NM_006031.6(PCNT):c.4498C>A (p.Gln1500Lys)
|
|
|
NM_006031.6(PCNT):c.451_452insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.His151delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerAsn)
|
rs2146360015
|
|
NM_006031.6(PCNT):c.4571C>T (p.Pro1524Leu)
|
rs35513449
|
|
NM_006031.6(PCNT):c.4597C>A (p.Gln1533Lys)
|
|
|
NM_006031.6(PCNT):c.459_536del (p.His156_Gln181del)
|
|
|
NM_006031.6(PCNT):c.466_467insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCG (p.His156delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerValGlyCysSerGlnSerValThrThrAsnArgAsnSerAsp)
|
|
|
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup)
|
rs1555945598
|
|
NM_006031.6(PCNT):c.4687G>A (p.Glu1563Lys)
|
|
|
NM_006031.6(PCNT):c.468T>A (p.His156Gln)
|
rs1333048694
|
|
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg)
|
rs1555945637
|
|
NM_006031.6(PCNT):c.4731A>T (p.Lys1577Asn)
|
|
|
NM_006031.6(PCNT):c.4791+5A>G
|
|
|
NM_006031.6(PCNT):c.4810A>G (p.Lys1604Glu)
|
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
NM_006031.6(PCNT):c.483_484insGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val161_Ser162insGlyAspHisProProGluGlnArgGlyMetPheThrVal)
|
rs2146360513
|
|
NM_006031.6(PCNT):c.4882C>T (p.Pro1628Ser)
|
|
|
NM_006031.6(PCNT):c.5038A>T (p.Asn1680Tyr)
|
rs2147504560
|
|
NM_006031.6(PCNT):c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC (p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValSerAspHisProProGluGln)
|
rs1569163275
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala)
|
rs761232554
|
|
NM_006031.6(PCNT):c.5116-3C>T
|
|
|
NM_006031.6(PCNT):c.5147A>C (p.Glu1716Ala)
|
|
|
NM_006031.6(PCNT):c.5167A>G (p.Asn1723Asp)
|
|
|
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly)
|
rs1555984919
|
|
NM_006031.6(PCNT):c.5189G>A (p.Arg1730Gln)
|
|
|
NM_006031.6(PCNT):c.5192T>C (p.Leu1731Ser)
|
|
|
NM_006031.6(PCNT):c.5330G>C (p.Cys1777Ser)
|
|
|
NM_006031.6(PCNT):c.536C>T (p.Pro179Leu)
|
|
|
NM_006031.6(PCNT):c.5371G>A (p.Glu1791Lys)
|
|
|
NM_006031.6(PCNT):c.5392G>A (p.Ala1798Thr)
|
rs1484070171
|
|
NM_006031.6(PCNT):c.5410C>T (p.Arg1804Trp)
|
|
|
NM_006031.6(PCNT):c.5424_5510del (p.Asp1808_Ala1836del)
|
|
|
NM_006031.6(PCNT):c.5431C>A (p.Arg1811Ser)
|
|
|
NM_006031.6(PCNT):c.5479G>A (p.Ala1827Thr)
|
|
|
NM_006031.6(PCNT):c.5479G>T (p.Ala1827Ser)
|
|
|
NM_006031.6(PCNT):c.550A>G (p.Met184Val)
|
|
|
NM_006031.6(PCNT):c.5518C>T (p.Arg1840Cys)
|
|
|
NM_006031.6(PCNT):c.5519G>A (p.Arg1840His)
|
rs200559632
|
|
NM_006031.6(PCNT):c.5548G>A (p.Glu1850Lys)
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5578G>A (p.Glu1860Lys)
|
rs369195346
|
|
NM_006031.6(PCNT):c.559_636del (p.Val187_Thr212del)
|
|
|
NM_006031.6(PCNT):c.5612_5629del (p.Ala1871_Ile1877delinsVal)
|
|
|
NM_006031.6(PCNT):c.5627A>T (p.Glu1876Val)
|
|
|
NM_006031.6(PCNT):c.5632G>A (p.Asp1878Asn)
|
|
|
NM_006031.6(PCNT):c.565G>T (p.Asp189Tyr)
|
rs2146362311
|
|
NM_006031.6(PCNT):c.5666C>G (p.Ala1889Gly)
|
rs2086791746
|
|
NM_006031.6(PCNT):c.5668G>C (p.Glu1890Gln)
|
|
|
NM_006031.6(PCNT):c.5698C>G (p.Arg1900Gly)
|
|
|
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe)
|
rs2147674617
|
|
NM_006031.6(PCNT):c.5708G>A (p.Arg1903His)
|
rs776232288
|
|
NM_006031.6(PCNT):c.5710G>T (p.Ala1904Ser)
|
rs200426591
|
|
NM_006031.6(PCNT):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_006031.6(PCNT):c.5768G>A (p.Arg1923Gln)
|
|
|
NM_006031.6(PCNT):c.5810_5811inv (p.His1937Arg)
|
|
|
NM_006031.6(PCNT):c.5819T>C (p.Phe1940Ser)
|
rs1460538855
|
|
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys)
|
rs199564971
|
|
NM_006031.6(PCNT):c.5879_5902del (p.Arg1960_Gln1967del)
|
|
|
NM_006031.6(PCNT):c.5890G>A (p.Ala1964Thr)
|
|
|
NM_006031.6(PCNT):c.591_629del (p.Ile197_Gly209del)
|
rs761716576
|
|
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup)
|
rs2147680118
|
|
NM_006031.6(PCNT):c.5995-12_5995-4del
|
rs759946797
|
|
NM_006031.6(PCNT):c.6055G>A (p.Val2019Met)
|
|
|
NM_006031.6(PCNT):c.6064G>A (p.Val2022Met)
|
rs2147696428
|
|
NM_006031.6(PCNT):c.6073G>A (p.Val2025Ile)
|
|
|
NM_006031.6(PCNT):c.6077G>A (p.Cys2026Tyr)
|
rs2147696688
|
|
NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu)
|
|
|
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
|
|
|
NM_006031.6(PCNT):c.6150+10_6150+11insCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG
|
|
|
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
|
|
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
|
|
NM_006031.6(PCNT):c.6193G>A (p.Asp2065Asn)
|
|
|
NM_006031.6(PCNT):c.6203C>G (p.Ala2068Gly)
|
rs2147769466
|
|
NM_006031.6(PCNT):c.6205C>G (p.Gln2069Glu)
|
|
|
NM_006031.6(PCNT):c.6235C>T (p.Arg2079Cys)
|
|
|
NM_006031.6(PCNT):c.6250A>G (p.Met2084Val)
|
|
|
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu)
|
|
|
NM_006031.6(PCNT):c.6262A>C (p.Asn2088His)
|
|
|
NM_006031.6(PCNT):c.6341C>G (p.Ser2114Cys)
|
|
|
NM_006031.6(PCNT):c.6344G>C (p.Cys2115Ser)
|
|
|
NM_006031.6(PCNT):c.6353A>G (p.Glu2118Gly)
|
rs1602028010
|
|
NM_006031.6(PCNT):c.6379G>A (p.Asp2127Asn)
|
|
|
NM_006031.6(PCNT):c.6383_6384insGTGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGC (p.Thr2154_Thr2155insAlaThrGlyGlyValThrAspValIleLysAsnGlnAlaIleAspAlaCysAspAlaAsnThr)
|
|
|
NM_006031.6(PCNT):c.6412G>A (p.Val2138Ile)
|
rs770179351
|
|
NM_006031.6(PCNT):c.6421G>T (p.Val2141Phe)
|
rs774154341
|
|
NM_006031.6(PCNT):c.6433_6495del (p.Gln2145_Asn2165del)
|
|
|
NM_006031.6(PCNT):c.6494A>G (p.Asn2165Ser)
|
|
|
NM_006031.6(PCNT):c.6496T>G (p.Trp2166Gly)
|
|
|
NM_006031.6(PCNT):c.6512C>T (p.Pro2171Leu)
|
|
|
NM_006031.6(PCNT):c.6515A>G (p.Asp2172Gly)
|
|
|
NM_006031.6(PCNT):c.6559G>T (p.Asp2187Tyr)
|
|
|
NM_006031.6(PCNT):c.6578_6579delinsGA (p.Pro2193Arg)
|
|
|
NM_006031.6(PCNT):c.6601C>T (p.Arg2201Cys)
|
|
|
NM_006031.6(PCNT):c.6643C>G (p.Pro2215Ala)
|
|
|
NM_006031.6(PCNT):c.671C>G (p.Thr224Ser)
|
|
|
NM_006031.6(PCNT):c.6730G>A (p.Val2244Met)
|
rs770515274
|
|
NM_006031.6(PCNT):c.6733A>T (p.Thr2245Ser)
|
rs773757779
|
|
NM_006031.6(PCNT):c.6769G>A (p.Asp2257Asn)
|
|
|
NM_006031.6(PCNT):c.6770A>G (p.Asp2257Gly)
|
|
|
NM_006031.6(PCNT):c.6782G>A (p.Gly2261Glu)
|
|
|
NM_006031.6(PCNT):c.6799T>C (p.Ser2267Pro)
|
|
|
NM_006031.6(PCNT):c.6810G>C (p.Gln2270His)
|
|
|
NM_006031.6(PCNT):c.6856G>A (p.Ala2286Thr)
|
|
|
NM_006031.6(PCNT):c.6890C>T (p.Ala2297Val)
|
|
|
NM_006031.6(PCNT):c.6914C>A (p.Thr2305Lys)
|
|
|
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met)
|
rs770226991
|
|
NM_006031.6(PCNT):c.6922-4_6922-2del
|
|
|
NM_006031.6(PCNT):c.6922-5A>G
|
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA
|
rs59957960
|
|
NM_006031.6(PCNT):c.6935A>C (p.Glu2312Ala)
|
rs2147796645
|
|
NM_006031.6(PCNT):c.7016G>A (p.Ser2339Asn)
|
rs1306140699
|
|
NM_006031.6(PCNT):c.7034C>T (p.Ser2345Leu)
|
|
|
NM_006031.6(PCNT):c.7066G>C (p.Gly2356Arg)
|
|
|
NM_006031.6(PCNT):c.7151A>G (p.Glu2384Gly)
|
rs2147851642
|
|
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys)
|
rs201562329
|
|
NM_006031.6(PCNT):c.7163G>A (p.Arg2388His)
|
|
|
NM_006031.6(PCNT):c.7174G>A (p.Val2392Met)
|
|
|
NM_006031.6(PCNT):c.7204G>A (p.Glu2402Lys)
|
|
|
NM_006031.6(PCNT):c.7246C>A (p.Pro2416Thr)
|
|
|
NM_006031.6(PCNT):c.7460T>G (p.Leu2487Arg)
|
|
|
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=)
|
rs572321857
|
|
NM_006031.6(PCNT):c.7477A>G (p.Lys2493Glu)
|
rs2087570845
|
|
NM_006031.6(PCNT):c.7482C>G (p.Ile2494Met)
|
|
|
NM_006031.6(PCNT):c.7540C>T (p.Arg2514Trp)
|
|
|
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr)
|
rs1415348820
|
|
NM_006031.6(PCNT):c.7567G>A (p.Ala2523Thr)
|
|
|
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)
|
|
|
NM_006031.6(PCNT):c.7657G>C (p.Gly2553Arg)
|
rs772478708
|
|
NM_006031.6(PCNT):c.767A>G (p.Asn256Ser)
|
rs559025459
|
|
NM_006031.6(PCNT):c.7682G>T (p.Arg2561Leu)
|
|
|
NM_006031.6(PCNT):c.7714G>A (p.Glu2572Lys)
|
|
|
NM_006031.6(PCNT):c.7725G>C (p.Lys2575Asn)
|
|
|
NM_006031.6(PCNT):c.7727G>A (p.Cys2576Tyr)
|
rs2147962858
|
|
NM_006031.6(PCNT):c.7772A>G (p.Lys2591Arg)
|
|
|
NM_006031.6(PCNT):c.7800_7801inv (p.Ala2601Pro)
|
|
|
NM_006031.6(PCNT):c.7883G>T (p.Cys2628Phe)
|
|
|
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe)
|
rs372068143
|
|
NM_006031.6(PCNT):c.7925G>A (p.Ser2642Asn)
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
NM_006031.6(PCNT):c.8023C>G (p.Arg2675Gly)
|
|
|
NM_006031.6(PCNT):c.8023C>T (p.Arg2675Trp)
|
|
|
NM_006031.6(PCNT):c.8071C>T (p.Arg2691Trp)
|
rs112087468
|
|
NM_006031.6(PCNT):c.8075C>T (p.Ala2692Val)
|
|
|
NM_006031.6(PCNT):c.8168G>A (p.Arg2723His)
|
|
|
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
|
|
|
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val)
|
|
|
NM_006031.6(PCNT):c.8231A>T (p.Gln2744Leu)
|
|
|
NM_006031.6(PCNT):c.8260A>G (p.Thr2754Ala)
|
|
|
NM_006031.6(PCNT):c.8285G>A (p.Arg2762Gln)
|
|
|
NM_006031.6(PCNT):c.8350A>G (p.Thr2784Ala)
|
|
|
NM_006031.6(PCNT):c.8386GAG[1] (p.Glu2797del)
|
rs760927489
|
|
NM_006031.6(PCNT):c.8398C>G (p.Arg2800Gly)
|
rs142608069
|
|
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp)
|
rs142608069
|
|
NM_006031.6(PCNT):c.8422C>A (p.Leu2808Ile)
|
|
|
NM_006031.6(PCNT):c.8434C>G (p.Gln2812Glu)
|
|
|
NM_006031.6(PCNT):c.8453C>A (p.Ser2818Tyr)
|
rs200878443
|
|
NM_006031.6(PCNT):c.8578T>C (p.Ser2860Pro)
|
rs2147987435
|
|
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
|
|
|
NM_006031.6(PCNT):c.8622A>C (p.Glu2874Asp)
|
rs774517427
|
|
NM_006031.6(PCNT):c.8711C>T (p.Ala2904Val)
|
rs2087795393
|
|
NM_006031.6(PCNT):c.8792T>C (p.Ile2931Thr)
|
|
|
NM_006031.6(PCNT):c.8813T>C (p.Val2938Ala)
|
|
|
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)
|
rs562568796
|
|
NM_006031.6(PCNT):c.8834A>G (p.Asp2945Gly)
|
|
|
NM_006031.6(PCNT):c.8851C>T (p.Arg2951Cys)
|
|
|
NM_006031.6(PCNT):c.8852G>A (p.Arg2951His)
|
|
|
NM_006031.6(PCNT):c.8872C>T (p.Arg2958Cys)
|
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006031.6(PCNT):c.8905C>T (p.Arg2969Trp)
|
rs201154205
|
|
NM_006031.6(PCNT):c.8939A>G (p.Gln2980Arg)
|
|
|
NM_006031.6(PCNT):c.8941C>T (p.Arg2981Trp)
|
|
|
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr)
|
rs201877661
|
|
NM_006031.6(PCNT):c.8960G>A (p.Arg2987Gln)
|
|
|
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys)
|
|
|
NM_006031.6(PCNT):c.9041C>T (p.Ser3014Phe)
|
|
|
NM_006031.6(PCNT):c.9133G>T (p.Val3045Leu)
|
rs925637422
|
|
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro)
|
rs794727667
|
|
NM_006031.6(PCNT):c.9179G>A (p.Ser3060Asn)
|
|
|
NM_006031.6(PCNT):c.924G>C (p.Glu308Asp)
|
rs146178359
|
|
NM_006031.6(PCNT):c.9263G>A (p.Cys3088Tyr)
|
rs2148062115
|
|
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp)
|
rs374857206
|
|
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu)
|
rs374857206
|
|
NM_006031.6(PCNT):c.930C>G (p.His310Gln)
|
|
|
NM_006031.6(PCNT):c.9347G>A (p.Arg3116Gln)
|
|
|
NM_006031.6(PCNT):c.948G>C (p.Glu316Asp)
|
rs369860393
|
|
NM_006031.6(PCNT):c.9517A>G (p.Met3173Val)
|
|
|
NM_006031.6(PCNT):c.9554A>G (p.Glu3185Gly)
|
|
|
NM_006031.6(PCNT):c.9556C>T (p.Arg3186Trp)
|
|
|
NM_006031.6(PCNT):c.9569C>A (p.Ser3190Tyr)
|
|
|
NM_006031.6(PCNT):c.9710C>A (p.Ala3237Glu)
|
|
|
NM_006031.6(PCNT):c.9751C>T (p.Pro3251Ser)
|
rs201526605
|
|
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
|
|
|
NM_006031.6(PCNT):c.9758G>C (p.Arg3253Pro)
|
rs559836256
|
|
NM_006031.6(PCNT):c.9799C>T (p.Arg3267Cys)
|
|
|
NM_006031.6(PCNT):c.9820T>A (p.Ser3274Thr)
|
|
|
NM_006031.6(PCNT):c.9838A>G (p.Arg3280Gly)
|
rs2148130857
|
|
NM_006031.6(PCNT):c.9839+6T>C
|
|
|
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro)
|
rs752708321
|
|
NM_006031.6(PCNT):c.9905C>T (p.Ser3302Phe)
|
rs2148140916
|
|
NM_006031.6(PCNT):c.9980del (p.Lys3327fs)
|
|
|
NM_006031.6(PCNT):c.9994C>G (p.Pro3332Ala)
|
|
|