NM_006031.6(PCNT):c.8751+23dup
|
rs5844270
|
1.00000
|
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)
|
rs2839223
|
0.88373
|
NM_006031.6(PCNT):c.2556T>C (p.Ala852=)
|
rs8131546
|
0.88316
|
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)
|
rs6518289
|
0.87478
|
NM_006031.6(PCNT):c.2928C>G (p.Leu976=)
|
rs2839228
|
0.87375
|
NM_006031.6(PCNT):c.2610-5C>T
|
rs2839226
|
0.68609
|
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)
|
rs2073376
|
0.67500
|
NM_006031.6(PCNT):c.7914-16C>T
|
rs2839257
|
0.67468
|
NM_006031.6(PCNT):c.720+17T>C
|
rs9982233
|
0.67221
|
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)
|
rs2070426
|
0.48521
|
NM_006031.6(PCNT):c.8996+45C>A
|
rs2236616
|
0.33111
|
NM_006031.6(PCNT):c.721-7G>A
|
rs2839217
|
0.32249
|
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=)
|
rs3737438
|
0.32038
|
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val)
|
rs6518291
|
0.31129
|
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala)
|
rs2839227
|
0.26258
|
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)
|
rs2070425
|
0.24579
|
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser)
|
rs35940413
|
0.22440
|
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg)
|
rs35346764
|
0.18919
|
NM_006031.6(PCNT):c.7913+9G>C
|
rs1023160
|
0.18804
|
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=)
|
rs58559714
|
0.18798
|
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg)
|
rs1044998
|
0.18680
|
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg)
|
rs7277175
|
0.18653
|
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=)
|
rs2839246
|
0.18636
|
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro)
|
rs2839245
|
0.18635
|
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)
|
rs60444527
|
0.18604
|
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr)
|
rs2839256
|
0.18603
|
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro)
|
rs35978208
|
0.18595
|
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=)
|
rs16979162
|
0.18249
|
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)
|
rs2073380
|
0.17969
|
NM_006031.6(PCNT):c.9394-4T>C
|
rs2839260
|
0.14350
|
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=)
|
rs57108405
|
0.13713
|
NM_006031.6(PCNT):c.2415C>G (p.Ala805=)
|
rs61407822
|
0.13635
|
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile)
|
rs2249060
|
0.12572
|
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)
|
rs7279204
|
0.11770
|
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=)
|
rs17371795
|
0.11349
|
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=)
|
rs9983522
|
0.11315
|
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=)
|
rs61735543
|
0.06211
|
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln)
|
rs8131693
|
0.05976
|
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=)
|
rs61735811
|
0.05866
|
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr)
|
rs35147998
|
0.05666
|
NM_006031.6(PCNT):c.-16G>T
|
rs138595914
|
0.05397
|
NM_006031.6(PCNT):c.711T>G (p.His237Gln)
|
rs34500739
|
0.05250
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)
|
rs743346
|
0.04982
|
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=)
|
rs61735818
|
0.04944
|
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=)
|
rs61735815
|
0.04931
|
NM_006031.6(PCNT):c.54+6C>T
|
rs80017051
|
0.04471
|
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=)
|
rs61735817
|
0.04297
|
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)
|
rs61735814
|
0.04295
|
NM_006031.6(PCNT):c.520A>G (p.Ile174Val)
|
rs61735822
|
0.03881
|
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=)
|
rs61738290
|
0.03522
|
NM_006031.6(PCNT):c.498A>G (p.Pro166=)
|
rs61735824
|
0.03505
|
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)
|
rs35044802
|
0.03488
|
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)
|
rs34151633
|
0.03401
|
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)
|
rs61735805
|
0.03082
|
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)
|
rs61735826
|
0.02642
|
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly)
|
rs4818842
|
0.02525
|
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)
|
rs34813667
|
0.02167
|
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=)
|
rs61735821
|
0.02105
|
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)
|
rs60078675
|
0.02025
|
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr)
|
rs61735812
|
0.01575
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=)
|
rs61735810
|
0.01545
|
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=)
|
rs61735820
|
0.01494
|
NM_006031.6(PCNT):c.4962+10G>A
|
rs114474454
|
0.01225
|
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=)
|
rs79359463
|
0.00973
|
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)
|
rs9981448
|
0.00833
|
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=)
|
rs61735806
|
0.00816
|
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=)
|
rs116431741
|
0.00812
|
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)
|
rs34849154
|
0.00771
|
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)
|
rs75024419
|
0.00771
|
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=)
|
rs61735816
|
0.00767
|
NM_006031.6(PCNT):c.7914-4G>A
|
rs76287849
|
0.00764
|
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)
|
rs77075366
|
0.00759
|
NM_006031.6(PCNT):c.8065-19G>A
|
rs78561636
|
0.00750
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)
|
rs115369710
|
0.00703
|
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=)
|
rs114739559
|
0.00679
|
NM_006031.6(PCNT):c.7914-5C>T
|
rs114120845
|
0.00679
|
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)
|
rs35881595
|
0.00647
|
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)
|
rs61735819
|
0.00644
|
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg)
|
rs35848602
|
0.00640
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe)
|
rs141771795
|
0.00596
|
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe)
|
rs140398533
|
0.00585
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
NM_006031.6(PCNT):c.9099+12G>A
|
rs140828051
|
0.00457
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_006031.6(PCNT):c.9623+8C>T
|
rs75758339
|
0.00388
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=)
|
rs141991283
|
0.00331
|
NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
|
rs148444313
|
0.00289
|
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val)
|
rs143028464
|
0.00265
|
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
NM_006031.6(PCNT):c.7495-13A>G
|
rs114588443
|
0.00240
|
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)
|
rs35557109
|
0.00238
|
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val)
|
rs114383833
|
0.00221
|
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=)
|
rs150554265
|
0.00209
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr)
|
rs200426591
|
0.00188
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)
|
rs143289533
|
0.00179
|
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)
|
rs138036524
|
0.00165
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
NM_006031.6(PCNT):c.-25G>C
|
rs202239640
|
0.00159
|
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
|
rs147189224
|
0.00157
|
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His)
|
rs149264703
|
0.00151
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=)
|
rs111389121
|
0.00148
|
NM_006031.6(PCNT):c.467A>G (p.His156Arg)
|
rs61735825
|
0.00146
|
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)
|
rs61735808
|
0.00127
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_006031.6(PCNT):c.7180-8C>T
|
rs143511166
|
0.00108
|
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)
|
rs140424584
|
0.00093
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val)
|
rs201139850
|
0.00085
|
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys)
|
rs548190846
|
0.00077
|
NM_006031.6(PCNT):c.1107T>C (p.His369=)
|
rs113731555
|
0.00076
|
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met)
|
rs139581644
|
0.00076
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu)
|
rs776232288
|
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.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
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.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
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.6579G>A (p.Pro2193=)
|
rs150756913
|
0.00051
|
NM_006031.5(PCNT):c.-75G>A
|
rs747401688
|
0.00050
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys)
|
rs186701249
|
0.00047
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00045
|
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)
|
rs147358856
|
0.00043
|
NM_006031.6(PCNT):c.4563+11G>A
|
rs370423096
|
0.00043
|
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=)
|
rs143671774
|
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.6761G>A (p.Cys2254Tyr)
|
rs141635334
|
0.00041
|
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=)
|
rs138543824
|
0.00040
|
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg)
|
rs201827977
|
0.00039
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_006031.6(PCNT):c.1761+13G>A
|
rs368579694
|
0.00038
|
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)
|
rs138254119
|
0.00038
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
NR_023343.3(RNU4ATAC):n.51G>A
|
rs188343279
|
0.00038
|
NR_023343.3(RNU4ATAC):n.66G>A
|
rs377619732
|
0.00037
|
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln)
|
rs146792192
|
0.00036
|
NM_006031.6(PCNT):c.9099+13C>T
|
rs376185703
|
0.00035
|
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)
|
rs145055342
|
0.00032
|
NM_006031.6(PCNT):c.506G>A (p.Arg169His)
|
rs61735823
|
0.00032
|
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu)
|
rs147670568
|
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.8835C>T (p.Asp2945=)
|
rs146875945
|
0.00031
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
NM_006031.6(PCNT):c.4584+3G>A
|
rs201042435
|
0.00029
|
NM_006031.6(PCNT):c.4584+9G>T
|
rs202096874
|
0.00029
|
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)
|
rs148389745
|
0.00029
|
NM_006031.6(PCNT):c.9967+18C>T
|
rs369414311
|
0.00029
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=)
|
rs140912550
|
0.00028
|
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=)
|
rs144342729
|
0.00027
|
NM_006031.6(PCNT):c.9099+14G>A
|
rs370266308
|
0.00027
|
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=)
|
rs370099497
|
0.00026
|
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
|
rs141304187
|
0.00024
|
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val)
|
rs142080697
|
0.00023
|
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu)
|
rs781468861
|
0.00022
|
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=)
|
rs146717642
|
0.00022
|
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met)
|
rs777841149
|
0.00021
|
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn)
|
rs200303861
|
0.00020
|
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro)
|
rs113536916
|
0.00019
|
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)
|
rs112231246
|
0.00018
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)
|
rs80166001
|
0.00017
|
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=)
|
rs1128166
|
0.00017
|
NM_006031.6(PCNT):c.*179G>A
|
rs1043813292
|
0.00016
|
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)
|
rs201176638
|
0.00016
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
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.7011T>C (p.Asp2337=)
|
rs138506849
|
0.00016
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg)
|
rs747647379
|
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.9584G>A (p.Arg3195Lys)
|
rs78524660
|
0.00015
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)
|
rs149844283
|
0.00014
|
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=)
|
rs142800774
|
0.00014
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)
|
rs751932532
|
0.00013
|
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr)
|
rs140290722
|
0.00013
|
NR_023343.3(RNU4ATAC):n.37G>A
|
rs756026847
|
0.00013
|
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=)
|
rs141211481
|
0.00012
|
NM_006031.6(PCNT):c.4791+14A>G
|
rs201124068
|
0.00012
|
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val)
|
rs748285536
|
0.00012
|
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=)
|
rs536281306
|
0.00012
|
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=)
|
rs191561981
|
0.00012
|
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser)
|
rs199737174
|
0.00012
|
NM_006031.6(PCNT):c.*234C>T
|
rs868047279
|
0.00011
|
NM_006031.6(PCNT):c.1185T>C (p.Phe395=)
|
rs764314231
|
0.00011
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln)
|
rs199661615
|
0.00011
|
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile)
|
rs766688176
|
0.00011
|
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)
|
rs141276542
|
0.00011
|
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val)
|
rs373238616
|
0.00011
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
NM_006031.6(PCNT):c.*307A>G
|
rs879391669
|
0.00010
|
NM_006031.6(PCNT):c.2784C>T (p.Gly928=)
|
rs201809134
|
0.00010
|
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser)
|
rs886057187
|
0.00010
|
NM_006031.6(PCNT):c.947A>T (p.Glu316Val)
|
rs201194745
|
0.00010
|
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)
|
rs181165794
|
0.00010
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
NM_006031.6(PCNT):c.1590T>C (p.Ala530=)
|
rs200294006
|
0.00009
|
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)
|
rs143870030
|
0.00009
|
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val)
|
rs138175397
|
0.00009
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=)
|
rs375741970
|
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.9235T>C (p.Leu3079=)
|
rs144651746
|
0.00009
|
NM_006031.6(PCNT):c.*421A>G
|
rs886057198
|
0.00008
|
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.721-5C>T
|
rs144683591
|
0.00008
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
NM_006031.6(PCNT):c.1236T>C (p.His412=)
|
rs769637090
|
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.505C>T (p.Arg169Cys)
|
rs748260212
|
0.00007
|
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln)
|
rs149779006
|
0.00007
|
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)
|
rs587784322
|
0.00007
|
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)
|
rs761540486
|
0.00006
|
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met)
|
rs201895762
|
0.00006
|
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg)
|
rs776223654
|
0.00006
|
NM_006031.6(PCNT):c.267+3A>G
|
rs771971500
|
0.00006
|
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)
|
rs61735804
|
0.00006
|
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met)
|
rs193261408
|
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.5724G>A (p.Gln1908=)
|
rs199519762
|
0.00006
|
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val)
|
rs374300652
|
0.00006
|
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser)
|
rs371054707
|
0.00006
|
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met)
|
rs780988556
|
0.00006
|
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln)
|
rs568559091
|
0.00006
|
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=)
|
rs199596313
|
0.00006
|
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg)
|
rs373681566
|
0.00006
|
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr)
|
rs200545088
|
0.00005
|
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln)
|
rs200148867
|
0.00005
|
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His)
|
rs201315836
|
0.00005
|
NM_006031.6(PCNT):c.389A>G (p.His130Arg)
|
rs57046460
|
0.00005
|
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr)
|
rs144612972
|
0.00005
|
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=)
|
rs143064269
|
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.7913+4C>T
|
rs376736200
|
0.00005
|
NR_023343.1:n.30G>A
|
rs374299350
|
0.00005
|
NR_023343.3(RNU4ATAC):n.48G>A
|
rs863225422
|
0.00005
|
NM_006031.6(PCNT):c.*110G>A
|
rs773970145
|
0.00004
|
NM_006031.6(PCNT):c.-33A>G
|
rs755311284
|
0.00004
|
NM_006031.6(PCNT):c.1457-5T>A
|
rs769237607
|
0.00004
|
NM_006031.6(PCNT):c.2376A>C (p.Arg792=)
|
rs759858754
|
0.00004
|
NM_006031.6(PCNT):c.2724C>G (p.His908Gln)
|
rs746750267
|
0.00004
|
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=)
|
rs182694054
|
0.00004
|
NM_006031.6(PCNT):c.4791+8G>A
|
rs769352853
|
0.00004
|
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)
|
rs746468689
|
0.00004
|
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys)
|
rs529740865
|
0.00004
|
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln)
|
rs753398573
|
0.00004
|
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=)
|
rs181294356
|
0.00004
|
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val)
|
rs145119952
|
0.00004
|
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=)
|
rs777489939
|
0.00004
|
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser)
|
rs10222114
|
0.00004
|
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu)
|
rs750958898
|
0.00004
|
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=)
|
rs755956494
|
0.00004
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe)
|
rs199981467
|
0.00004
|
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys)
|
rs886267351
|
0.00004
|
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp)
|
rs764010211
|
0.00004
|
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)
|
rs574728262
|
0.00004
|
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg)
|
rs372024492
|
0.00004
|
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)
|
rs757793925
|
0.00004
|
NR_023343.3(RNU4ATAC):n.124G>A
|
rs544312701
|
0.00004
|
NM_006031.6(PCNT):c.138C>T (p.Val46=)
|
rs762863150
|
0.00003
|
NM_006031.6(PCNT):c.139G>C (p.Asp47His)
|
rs112837071
|
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.336T>C (p.His112=)
|
rs59157477
|
0.00003
|
NM_006031.6(PCNT):c.339T>A (p.Pro113=)
|
rs59662841
|
0.00003
|
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys)
|
rs886057181
|
0.00003
|
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile)
|
rs886057183
|
0.00003
|
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn)
|
rs762126145
|
0.00003
|
NM_006031.6(PCNT):c.481G>A (p.Val161Ile)
|
rs555841008
|
0.00003
|
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys)
|
rs587784309
|
0.00003
|
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln)
|
rs770575971
|
0.00003
|
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=)
|
rs761816773
|
0.00003
|
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)
|
rs758705082
|
0.00003
|
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr)
|
rs587784315
|
0.00003
|
NM_006031.6(PCNT):c.6648C>T (p.Val2216=)
|
rs527590016
|
0.00003
|
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)
|
rs572123043
|
0.00003
|
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val)
|
rs144775948
|
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.7304A>G (p.His2435Arg)
|
rs373432697
|
0.00003
|
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly)
|
rs886057178
|
0.00003
|
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp)
|
rs761885630
|
0.00003
|
NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln)
|
rs372871511
|
0.00003
|
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys)
|
rs775636867
|
0.00003
|
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu)
|
rs138860570
|
0.00003
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
NM_006031.6(PCNT):c.2865C>T (p.Ala955=)
|
rs540548340
|
0.00002
|
NM_006031.6(PCNT):c.3312+14G>A
|
rs371666981
|
0.00002
|
NM_006031.6(PCNT):c.3465-1G>A
|
rs755084205
|
0.00002
|
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)
|
rs761299168
|
0.00002
|
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter)
|
rs1359618876
|
0.00002
|
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys)
|
rs200606073
|
0.00002
|
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=)
|
rs61735807
|
0.00002
|
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys)
|
rs764560918
|
0.00002
|
NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg)
|
rs768872502
|
0.00002
|
NM_006031.6(PCNT):c.545G>A (p.Arg182His)
|
rs193268784
|
0.00002
|
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro)
|
rs150001244
|
0.00002
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
NM_006031.6(PCNT):c.5994+17G>A
|
rs570628453
|
0.00002
|
NM_006031.6(PCNT):c.5995-2A>C
|
rs1174601545
|
0.00002
|
NM_006031.6(PCNT):c.6150+10G>C
|
rs886057186
|
0.00002
|
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile)
|
rs886057188
|
0.00002
|
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp)
|
rs137977081
|
0.00002
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)
|
rs745406750
|
0.00002
|
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys)
|
rs148485670
|
0.00002
|
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys)
|
rs772107252
|
0.00002
|
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile)
|
rs372282731
|
0.00002
|
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val)
|
rs200044004
|
0.00002
|
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln)
|
rs747159043
|
0.00002
|
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)
|
rs554275370
|
0.00002
|
NR_023343.3(RNU4ATAC):n.118T>C
|
rs863225423
|
0.00002
|
NM_006031.6(PCNT):c.*126A>G
|
rs2053728715
|
0.00001
|
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly)
|
rs753659648
|
0.00001
|
NM_006031.6(PCNT):c.1335A>G (p.Lys445=)
|
rs771882821
|
0.00001
|
NM_006031.6(PCNT):c.1479G>A (p.Ala493=)
|
rs199864153
|
0.00001
|
NM_006031.6(PCNT):c.1737T>C (p.Asp579=)
|
rs1170990391
|
0.00001
|
NM_006031.6(PCNT):c.2610-7G>A
|
rs753811883
|
0.00001
|
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr)
|
rs776133593
|
0.00001
|
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)
|
rs869312917
|
0.00001
|
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys)
|
rs752300035
|
0.00001
|
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)
|
rs752831769
|
0.00001
|
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln)
|
rs544000220
|
0.00001
|
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)
|
rs762148129
|
0.00001
|
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)
|
rs869312929
|
0.00001
|
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile)
|
rs772421309
|
0.00001
|
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala)
|
rs199787861
|
0.00001
|
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His)
|
rs1569239749
|
0.00001
|
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg)
|
rs34012939
|
0.00001
|
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln)
|
rs587784304
|
0.00001
|
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=)
|
rs767908478
|
0.00001
|
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp)
|
rs371945746
|
0.00001
|
NM_006031.6(PCNT):c.4563+15C>T
|
rs1234384421
|
0.00001
|
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val)
|
rs766280665
|
0.00001
|
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys)
|
rs781526777
|
0.00001
|
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His)
|
rs776095839
|
0.00001
|
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln)
|
rs982539653
|
0.00001
|
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=)
|
rs760142269
|
0.00001
|
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met)
|
rs768063203
|
0.00001
|
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala)
|
rs535358423
|
0.00001
|
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp)
|
rs759289691
|
0.00001
|
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly)
|
rs201943167
|
0.00001
|
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
|
rs119479062
|
0.00001
|
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=)
|
rs752349556
|
0.00001
|
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)
|
rs758977418
|
0.00001
|
NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu)
|
rs376147151
|
0.00001
|
NM_006031.6(PCNT):c.6192C>T (p.Val2064=)
|
rs1229663143
|
0.00001
|
NM_006031.6(PCNT):c.6412dup (p.Val2138fs)
|
rs746584417
|
0.00001
|
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile)
|
rs375143479
|
0.00001
|
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro)
|
rs369420036
|
0.00001
|
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly)
|
rs886057190
|
0.00001
|
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu)
|
rs747212974
|
0.00001
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg)
|
rs758228005
|
0.00001
|
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=)
|
rs1292668105
|
0.00001
|
NM_006031.6(PCNT):c.7321-10C>T
|
rs587784318
|
0.00001
|
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val)
|
rs749686283
|
0.00001
|
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=)
|
rs372531708
|
0.00001
|
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=)
|
rs766025734
|
0.00001
|
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=)
|
rs757858684
|
0.00001
|
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=)
|
rs776706307
|
0.00001
|
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys)
|
rs781317079
|
0.00001
|
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp)
|
rs766529116
|
0.00001
|
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter)
|
rs119479064
|
0.00001
|
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His)
|
rs139830890
|
0.00001
|
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs)
|
rs587784320
|
0.00001
|
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)
|
rs587784321
|
0.00001
|
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val)
|
rs760545245
|
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
|
NC_000002.12:g.121530929G>C
|
rs181195449
|
|
NC_000002.12:g.121530945G>C
|
rs377619732
|
|
NC_000002.12:g.121530990G>A
|
rs763500364
|
|
NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]
|
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001395891.1(CLASP1):c.196-589T>G
|
|
|
NM_001395891.1(CLASP1):c.196-607G>A
|
rs180755563
|
|
NM_001395891.1(CLASP1):c.196-679dup
|
rs542752836
|
|
NM_006031.5(PCNT):c.*451G>A
|
rs897212255
|
|
NM_006031.5(PCNT):c.-100delG
|
rs397802954
|
|
NM_006031.5(PCNT):c.-100dup
|
rs397802954
|
|
NM_006031.6(PCNT):c.*101T>G
|
rs138450666
|
|
NM_006031.6(PCNT):c.*221C>G
|
rs1013799749
|
|
NM_006031.6(PCNT):c.*225G>A
|
rs528999705
|
|
NM_006031.6(PCNT):c.*22del
|
rs777390900
|
|
NM_006031.6(PCNT):c.*318A>G
|
rs1242193691
|
|
NM_006031.6(PCNT):c.*343_*346del
|
rs145379994
|
|
NM_006031.6(PCNT):c.*391_*396del
|
rs377311069
|
|
NM_006031.6(PCNT):c.-35T>A
|
rs886057177
|
|
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
|
|
|
NM_006031.6(PCNT):c.1032+1G>A
|
rs1569178877
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
|
|
|
NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs)
|
|
|
NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)
|
|
|
NM_006031.6(PCNT):c.1344+2T>C
|
|
|
NM_006031.6(PCNT):c.1345-1G>T
|
|
|
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys)
|
rs2084269624
|
|
NM_006031.6(PCNT):c.1435del (p.Thr479fs)
|
rs2084270803
|
|
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
|
|
|
NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter)
|
rs2146626308
|
|
NM_006031.6(PCNT):c.1457-12G>A
|
rs756968448
|
|
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala)
|
rs2084338403
|
|
NM_006031.6(PCNT):c.1528dup (p.Thr510fs)
|
rs1369869782
|
|
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1542C>T (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly)
|
rs2084341884
|
|
NM_006031.6(PCNT):c.1680-1G>C
|
|
|
NM_006031.6(PCNT):c.1680-2A>G
|
rs1555954786
|
|
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)
|
rs797045875
|
|
NM_006031.6(PCNT):c.1716A>G (p.Lys572=)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val)
|
rs2084439675
|
|
NM_006031.6(PCNT):c.1887del (p.Ala630fs)
|
rs397509366
|
|
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)
|
rs587779355
|
|
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu)
|
rs150892737
|
|
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
|
|
|
NM_006031.6(PCNT):c.1975dup (p.Asp659fs)
|
rs1555956600
|
|
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
|
|
|
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr)
|
rs886057179
|
|
NM_006031.6(PCNT):c.2154+7C>A
|
rs376236418
|
|
NM_006031.6(PCNT):c.2155-21_2186del
|
rs1555959737
|
|
NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)
|
|
|
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
|
rs151020551
|
|
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter)
|
rs1569201595
|
|
NM_006031.6(PCNT):c.2470C>T (p.Leu824=)
|
rs61735803
|
|
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp)
|
rs776223654
|
|
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr)
|
rs768342760
|
|
NM_006031.6(PCNT):c.2742A>G (p.Ser914=)
|
rs587784301
|
|
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val)
|
rs763541418
|
|
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
|
|
|
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)
|
rs587784302
|
|
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)
|
rs1555962301
|
|
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter)
|
rs119479063
|
|
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg)
|
rs886057180
|
|
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.3233C>A (p.Ala1078Glu)
|
rs587784303
|
|
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His)
|
rs78484478
|
|
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=)
|
rs2085811037
|
|
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del)
|
rs759470656
|
|
NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
|
rs2085816295
|
|
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter)
|
rs387906928
|
|
NM_006031.6(PCNT):c.3465-1G>C
|
rs755084205
|
|
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs)
|
rs397514033
|
|
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
|
|
|
NM_006031.6(PCNT):c.366_369del (p.Ser123fs)
|
rs1569162602
|
|
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val)
|
rs886057182
|
|
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=)
|
rs886057184
|
|
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala)
|
rs139106698
|
|
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg)
|
rs1484681697
|
|
NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)
|
|
|
NM_006031.6(PCNT):c.398del (p.Phe133fs)
|
rs1131691484
|
|
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp)
|
rs753662756
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup)
|
rs759009997
|
|
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter)
|
rs1569249386
|
|
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp)
|
rs549834885
|
|
NM_006031.6(PCNT):c.4448_4791+1del
|
|
|
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.4551T>C (p.Pro1517=)
|
rs762692764
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.4584+11G>A
|
rs752879780
|
|
NM_006031.6(PCNT):c.4584+11G>C
|
rs752879780
|
|
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter)
|
rs915028258
|
|
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)
|
rs587784306
|
|
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)
|
rs587784306
|
|
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser)
|
rs587784307
|
|
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs)
|
rs797045879
|
|
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs)
|
rs2147503631
|
|
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)
|
rs587784308
|
|
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr)
|
rs1296247151
|
|
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
|
|
|
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs)
|
rs2147504920
|
|
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala)
|
rs761232554
|
|
NM_006031.6(PCNT):c.513G>C (p.Met171Ile)
|
rs142422937
|
|
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=)
|
rs886057185
|
|
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln)
|
rs201709021
|
|
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)
|
rs200285580
|
|
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser)
|
rs61735809
|
|
NM_006031.6(PCNT):c.537G>A (p.Pro179=)
|
rs754732068
|
|
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)
|
rs750764149
|
|
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
|
|
|
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe)
|
rs1602005527
|
|
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter)
|
rs1315359733
|
|
NM_006031.6(PCNT):c.55-5C>T
|
rs587784310
|
|
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)
|
rs369195346
|
|
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
|
|
|
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser)
|
rs587784311
|
|
NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter)
|
rs2086794191
|
|
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs)
|
rs587784312
|
|
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro)
|
rs587784313
|
|
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His)
|
rs776640595
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro)
|
rs2086799208
|
|
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys)
|
rs199564971
|
|
NM_006031.6(PCNT):c.5874C>T (p.His1958=)
|
rs2086801367
|
|
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
|
|
|
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
|
|
|
NM_006031.6(PCNT):c.5982C>G (p.Val1994=)
|
rs552463011
|
|
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
|
|
|
NM_006031.6(PCNT):c.607del (p.His203fs)
|
rs767416279
|
|
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=)
|
rs2086841170
|
|
NM_006031.6(PCNT):c.6150+11G>C
|
rs10222116
|
|
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
|
|
|
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs)
|
rs1064793985
|
|
NM_006031.6(PCNT):c.6410dup (p.Val2138fs)
|
rs1173590566
|
|
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=)
|
rs886057189
|
|
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
|
|
|
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=)
|
rs372022297
|
|
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)
|
rs119479061
|
|
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=)
|
rs587784316
|
|
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr)
|
rs771286324
|
|
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met)
|
rs770226991
|
|
NM_006031.6(PCNT):c.6922-4A>T
|
rs587784317
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA
|
rs59957960
|
|
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter)
|
rs1555993038
|
|
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
|
|
|
NM_006031.6(PCNT):c.721-7G>T
|
rs2839217
|
|
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser)
|
rs576796827
|
|
NM_006031.6(PCNT):c.7511del (p.Lys2504fs)
|
rs2147940284
|
|
NM_006031.6(PCNT):c.7585C>T (p.Arg2529Cys)
|
|
|
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
|
|
|
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys)
|
rs71326327
|
|
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly)
|
rs751345838
|
|
NM_006031.6(PCNT):c.7690+5G>A
|
rs754618153
|
|
NM_006031.6(PCNT):c.7796del (p.Leu2599fs)
|
rs587784319
|
|
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter)
|
rs1555999948
|
|
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe)
|
rs372068143
|
|
NM_006031.6(PCNT):c.7G>C (p.Val3Leu)
|
rs1175937762
|
|
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
|
|
|
NM_006031.6(PCNT):c.8028C>T (p.His2676=)
|
rs886057191
|
|
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys)
|
rs1211566024
|
|
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter)
|
rs758298374
|
|
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
|
|
|
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
|
|
|
NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs)
|
rs2087769756
|
|
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp)
|
rs142608069
|
|
NM_006031.6(PCNT):c.844dup (p.Glu282fs)
|
rs1601795448
|
|
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
|
|
|
NM_006031.6(PCNT):c.8680_8689del (p.Ser2894fs)
|
|
|
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
|
|
|
NM_006031.6(PCNT):c.8752-2A>C
|
rs1394951912
|
|
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
|
|
|
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs)
|
rs1214290914
|
|
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=)
|
rs773483379
|
|
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)
|
rs562568796
|
|
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
|
|
|
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val)
|
rs372356069
|
|
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr)
|
rs201877661
|
|
NM_006031.6(PCNT):c.8996+10C>G
|
rs748036380
|
|
NM_006031.6(PCNT):c.8996+5G>A
|
rs886057193
|
|
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs)
|
rs1569308924
|
|
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly)
|
rs886057194
|
|
NM_006031.6(PCNT):c.924G>A (p.Glu308=)
|
rs146178359
|
|
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.9280G>C (p.Glu3094Gln)
|
rs1404639711
|
|
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr)
|
rs140196457
|
|
NM_006031.6(PCNT):c.9393+1G>A
|
|
|
NM_006031.6(PCNT):c.9394-3T>C
|
rs545618955
|
|
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter)
|
rs2148093265
|
|
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del)
|
rs2148093442
|
|
NM_006031.6(PCNT):c.9535dup (p.Val3179fs)
|
rs747058622
|
|
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=)
|
rs201798996
|
|
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
|
|
|
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys)
|
rs559822257
|
|
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
|
|
|
NM_006031.6(PCNT):c.9700+1G>A
|
rs2148115298
|
|
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter)
|
rs1474939581
|
|
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys)
|
rs587784323
|
|
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
|
|
|
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala)
|
rs144044246
|
|
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
|
|
|
NM_023343.1:c.55G>A
|
|
|
NR_023343.3(RNU4ATAC):n.29T>G
|
|
|
NR_023343.3(RNU4ATAC):n.40C>T
|
rs139495292
|
|
NR_023343.3(RNU4ATAC):n.46G>T
|
|
|
NR_023343.3(RNU4ATAC):n.47T>G
|
rs767236617
|
|
NR_023343.3(RNU4ATAC):n.50G>A
|
rs181195449
|
|
NR_023343.3(RNU4ATAC):n.53C>G
|
rs180755563
|
|
NR_023343.3(RNU4ATAC):n.55G>A
|
rs575472572
|
|
PCNT, 486-BP DEL, NT84
|
|
|