NM_022098.4(XPNPEP3):c.*2629G>A
|
rs2899341
|
0.55160
|
NM_022098.4(XPNPEP3):c.*3366C>T
|
rs12168248
|
0.05737
|
NM_022098.4(XPNPEP3):c.*3137C>G
|
rs12168140
|
0.05733
|
NM_022098.4(XPNPEP3):c.*2958G>A
|
rs9623284
|
0.05707
|
NM_022098.4(XPNPEP3):c.*3690G>T
|
rs150218150
|
0.05556
|
NM_022098.4(XPNPEP3):c.*4362C>G
|
rs9623286
|
0.05075
|
NM_022098.4(XPNPEP3):c.*4586G>A
|
rs9619920
|
0.04950
|
NM_022098.4(XPNPEP3):c.*2978G>A
|
rs9623285
|
0.04861
|
NM_022098.4(XPNPEP3):c.*467C>T
|
rs12169203
|
0.04815
|
NM_022098.4(XPNPEP3):c.*6201A>T
|
rs9917
|
0.04498
|
NM_022098.4(XPNPEP3):c.*4561G>A
|
rs9611438
|
0.03353
|
NM_022098.4(XPNPEP3):c.*3351C>T
|
rs9611437
|
0.03348
|
NM_022098.4(XPNPEP3):c.*4702G>A
|
rs5758133
|
0.02338
|
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=)
|
rs1894658
|
0.01750
|
NM_022098.4(XPNPEP3):c.*3003G>A
|
rs8142521
|
0.01676
|
NM_022098.4(XPNPEP3):c.*3411T>C
|
rs115221268
|
0.01309
|
NM_022098.4(XPNPEP3):c.*2762T>C
|
rs181614337
|
0.01298
|
NM_022098.4(XPNPEP3):c.*6055A>C
|
rs73412774
|
0.00955
|
NM_022098.4(XPNPEP3):c.*809C>A
|
rs57486044
|
0.00866
|
NM_022098.4(XPNPEP3):c.*877A>G
|
rs5995966
|
0.00707
|
NM_022098.4(XPNPEP3):c.*5643C>G
|
rs115817476
|
0.00474
|
NM_022098.4(XPNPEP3):c.*5327A>C
|
rs141571227
|
0.00471
|
NM_022098.4(XPNPEP3):c.590-9C>T
|
rs149370388
|
0.00467
|
NM_022098.4(XPNPEP3):c.*3955A>G
|
rs138848856
|
0.00381
|
NM_022098.4(XPNPEP3):c.*2611G>T
|
rs144498602
|
0.00373
|
NM_022098.4(XPNPEP3):c.*6179G>A
|
rs149909864
|
0.00253
|
NM_022098.4(XPNPEP3):c.*4530C>T
|
rs190920816
|
0.00250
|
NM_022098.4(XPNPEP3):c.*4990A>G
|
rs146033951
|
0.00245
|
NM_022098.4(XPNPEP3):c.*5445G>A
|
rs150740494
|
0.00243
|
NM_022098.4(XPNPEP3):c.*1531A>G
|
rs145932052
|
0.00233
|
NM_022098.4(XPNPEP3):c.*5547C>G
|
rs191415641
|
0.00224
|
NM_022098.4(XPNPEP3):c.*531T>G
|
rs564294482
|
0.00197
|
NM_022098.4(XPNPEP3):c.1056-9C>T
|
rs116758113
|
0.00160
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)
|
rs146023695
|
0.00155
|
NM_022098.4(XPNPEP3):c.*5106T>G
|
rs1198807029
|
0.00128
|
NM_022098.4(XPNPEP3):c.*5742A>G
|
rs771253606
|
0.00106
|
NM_022098.4(XPNPEP3):c.*1076C>A
|
rs150795967
|
0.00097
|
NM_022098.4(XPNPEP3):c.*1876A>G
|
rs555560884
|
0.00090
|
NM_022098.4(XPNPEP3):c.*2011A>G
|
rs564396179
|
0.00086
|
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)
|
rs138501598
|
0.00085
|
NM_022098.4(XPNPEP3):c.*3698G>T
|
rs376352212
|
0.00082
|
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=)
|
rs139991468
|
0.00072
|
NM_022098.4(XPNPEP3):c.*4614A>G
|
rs560735914
|
0.00066
|
NM_022098.4(XPNPEP3):c.970-9T>C
|
rs117568682
|
0.00066
|
NM_022098.4(XPNPEP3):c.*1265C>T
|
rs548264406
|
0.00058
|
NM_022098.4(XPNPEP3):c.*2536C>G
|
rs747423050
|
0.00054
|
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln)
|
rs79385822
|
0.00051
|
NM_022098.4(XPNPEP3):c.-23C>T
|
rs149610579
|
0.00038
|
NM_022098.4(XPNPEP3):c.*1249T>C
|
rs886057517
|
0.00036
|
NM_022098.4(XPNPEP3):c.*1161C>G
|
rs764840110
|
0.00029
|
NM_022098.4(XPNPEP3):c.1357+19A>G
|
rs139881907
|
0.00024
|
NM_022098.4(XPNPEP3):c.*150T>G
|
rs138316056
|
0.00023
|
NM_022098.4(XPNPEP3):c.793-18C>T
|
rs201917593
|
0.00021
|
NM_022098.4(XPNPEP3):c.*419A>T
|
rs749468351
|
0.00020
|
NM_022098.4(XPNPEP3):c.*6105G>A
|
rs183787483
|
0.00019
|
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)
|
rs151167805
|
0.00019
|
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=)
|
rs201469402
|
0.00017
|
NM_022098.4(XPNPEP3):c.*1394C>T
|
rs570854426
|
0.00015
|
NM_022098.4(XPNPEP3):c.*1830G>A
|
rs950650459
|
0.00014
|
NM_022098.4(XPNPEP3):c.*2649A>G
|
rs554227485
|
0.00014
|
NM_022098.4(XPNPEP3):c.*4216C>T
|
rs189664696
|
0.00014
|
NM_022098.4(XPNPEP3):c.*1696G>A
|
rs886057521
|
0.00013
|
NM_022098.4(XPNPEP3):c.*2779C>T
|
rs886057532
|
0.00012
|
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr)
|
rs139592817
|
0.00012
|
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
|
rs137859412
|
0.00012
|
NM_022098.4(XPNPEP3):c.*1162G>A
|
rs1411643653
|
0.00011
|
NM_022098.4(XPNPEP3):c.*3112T>C
|
rs754930334
|
0.00011
|
NM_022098.4(XPNPEP3):c.*700G>A
|
rs576978422
|
0.00011
|
NM_022098.4(XPNPEP3):c.*2406C>T
|
rs189640184
|
0.00010
|
NM_022098.4(XPNPEP3):c.*5410G>A
|
rs886057544
|
0.00010
|
NM_022098.4(XPNPEP3):c.*1964G>T
|
rs184334715
|
0.00009
|
NM_022098.4(XPNPEP3):c.1173G>C (p.Leu391=)
|
rs374128745
|
0.00009
|
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)
|
rs199693203
|
0.00009
|
NM_022098.4(XPNPEP3):c.792+13T>C
|
rs376777685
|
0.00009
|
NM_022098.4(XPNPEP3):c.*4198G>A
|
rs888693742
|
0.00008
|
NM_022098.4(XPNPEP3):c.*637C>T
|
rs886057512
|
0.00008
|
NM_022098.4(XPNPEP3):c.*1798C>T
|
rs886057524
|
0.00007
|
NM_022098.4(XPNPEP3):c.*2860G>A
|
rs886057533
|
0.00007
|
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His)
|
rs766361465
|
0.00007
|
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg)
|
rs753043524
|
0.00007
|
NM_022098.4(XPNPEP3):c.*1452A>G
|
rs553717950
|
0.00006
|
NM_022098.4(XPNPEP3):c.*4227C>T
|
rs574241355
|
0.00006
|
NM_022098.4(XPNPEP3):c.*3194G>A
|
rs1013043091
|
0.00005
|
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys)
|
rs761750025
|
0.00005
|
NM_022098.4(XPNPEP3):c.856-2A>G
|
rs149609214
|
0.00005
|
NM_022098.4(XPNPEP3):c.*3238A>G
|
rs886057536
|
0.00004
|
NM_022098.4(XPNPEP3):c.*3756A>G
|
rs924527994
|
0.00004
|
NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser)
|
rs768828532
|
0.00004
|
NM_022098.4(XPNPEP3):c.*1205C>T
|
rs886057514
|
0.00003
|
NM_022098.4(XPNPEP3):c.*1376C>G
|
rs891838286
|
0.00003
|
NM_022098.4(XPNPEP3):c.*3542A>G
|
rs766458439
|
0.00003
|
NM_022098.4(XPNPEP3):c.*5508T>G
|
rs886057545
|
0.00003
|
NM_022098.4(XPNPEP3):c.*5649C>T
|
rs886057547
|
0.00003
|
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
|
rs146309087
|
0.00003
|
NM_022098.4(XPNPEP3):c.969+6T>C
|
rs371875441
|
0.00003
|
NM_022098.4(XPNPEP3):c.*1427G>A
|
rs886057518
|
0.00002
|
NM_022098.4(XPNPEP3):c.*1449A>G
|
rs886057519
|
0.00002
|
NM_022098.4(XPNPEP3):c.*3840G>A
|
rs886057540
|
0.00002
|
NM_022098.4(XPNPEP3):c.*4158A>G
|
rs1244245399
|
0.00002
|
NM_022098.4(XPNPEP3):c.612T>C (p.Tyr204=)
|
rs752306590
|
0.00002
|
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met)
|
rs746834434
|
0.00002
|
NM_022098.4(XPNPEP3):c.933C>T (p.Asn311=)
|
rs763093642
|
0.00002
|
NM_022098.4(XPNPEP3):c.963C>T (p.Leu321=)
|
rs759612541
|
0.00002
|
NM_022098.4(XPNPEP3):c.970-4C>T
|
rs752602313
|
0.00002
|
NM_022098.4(XPNPEP3):c.*1996T>G
|
rs1035521302
|
0.00001
|
NM_022098.4(XPNPEP3):c.*2627C>T
|
rs886057527
|
0.00001
|
NM_022098.4(XPNPEP3):c.*2768T>C
|
rs886057531
|
0.00001
|
NM_022098.4(XPNPEP3):c.*3706T>G
|
rs2058249701
|
0.00001
|
NM_022098.4(XPNPEP3):c.*3973C>T
|
rs1037261895
|
0.00001
|
NM_022098.4(XPNPEP3):c.*4260T>A
|
rs886057542
|
0.00001
|
NM_022098.4(XPNPEP3):c.*4588A>G
|
rs778774318
|
0.00001
|
NM_022098.4(XPNPEP3):c.*5641T>C
|
rs530025506
|
0.00001
|
NM_022098.4(XPNPEP3):c.1085A>C (p.Glu362Ala)
|
rs147185156
|
0.00001
|
NM_022098.4(XPNPEP3):c.112G>A (p.Glu38Lys)
|
rs1471773793
|
0.00001
|
NM_022098.4(XPNPEP3):c.1236+9C>T
|
rs778161054
|
0.00001
|
NM_022098.4(XPNPEP3):c.1259A>G (p.His420Arg)
|
rs952458657
|
0.00001
|
NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val)
|
rs747953049
|
0.00001
|
NM_022098.4(XPNPEP3):c.271A>G (p.Ser91Gly)
|
rs761097517
|
0.00001
|
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn)
|
rs1017989325
|
0.00001
|
NM_022098.4(XPNPEP3):c.47A>T (p.Asn16Ile)
|
rs893424638
|
0.00001
|
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)
|
rs751910922
|
0.00001
|
NM_022098.4(XPNPEP3):c.969+5G>A
|
rs764558082
|
0.00001
|
NC_000022.10:g.(?_41264983)_(41729217_?)dup
|
|
|
NC_000022.10:g.(?_41277754)_(41278201_?)del
|
|
|
NC_000022.10:g.(?_41282297)_(41282539_?)del
|
|
|
NM_022098.4(XPNPEP3):c.*1246G>A
|
rs886057516
|
|
NM_022098.4(XPNPEP3):c.*1301G>A
|
rs185173339
|
|
NM_022098.4(XPNPEP3):c.*1439C>A
|
rs897284135
|
|
NM_022098.4(XPNPEP3):c.*1458G>A
|
rs886057520
|
|
NM_022098.4(XPNPEP3):c.*1470A>C
|
rs530322352
|
|
NM_022098.4(XPNPEP3):c.*1557C>G
|
rs1054673055
|
|
NM_022098.4(XPNPEP3):c.*2042G>A
|
rs886057526
|
|
NM_022098.4(XPNPEP3):c.*2175C>T
|
rs1569035427
|
|
NM_022098.4(XPNPEP3):c.*2312G>A
|
rs2058244420
|
|
NM_022098.4(XPNPEP3):c.*2630C>T
|
rs886057528
|
|
NM_022098.4(XPNPEP3):c.*2881C>G
|
rs9623283
|
|
NM_022098.4(XPNPEP3):c.*2881C>T
|
rs9623283
|
|
NM_022098.4(XPNPEP3):c.*2C>T
|
rs149716028
|
|
NM_022098.4(XPNPEP3):c.*3046G>A
|
rs886057535
|
|
NM_022098.4(XPNPEP3):c.*3298C>T
|
rs886057537
|
|
NM_022098.4(XPNPEP3):c.*3618A>G
|
rs747079119
|
|
NM_022098.4(XPNPEP3):c.*37T>C
|
rs2058235224
|
|
NM_022098.4(XPNPEP3):c.*390A>G
|
rs142395135
|
|
NM_022098.4(XPNPEP3):c.*4166A>G
|
rs1291419529
|
|
NM_022098.4(XPNPEP3):c.*4645C>G
|
rs183511610
|
|
NM_022098.4(XPNPEP3):c.*4789C>T
|
rs2058253616
|
|
NM_022098.4(XPNPEP3):c.*5096T>G
|
rs886057543
|
|
NM_022098.4(XPNPEP3):c.*5162C>G
|
rs2058254905
|
|
NM_022098.4(XPNPEP3):c.*5294C>T
|
rs2058255381
|
|
NM_022098.4(XPNPEP3):c.*5631C>T
|
rs886057546
|
|
NM_022098.4(XPNPEP3):c.*5656G>A
|
rs2058256756
|
|
NM_022098.4(XPNPEP3):c.*5729A>G
|
rs1470774653
|
|
NM_022098.4(XPNPEP3):c.*6164G>C
|
rs886057549
|
|
NM_022098.4(XPNPEP3):c.*6178C>G
|
rs193116004
|
|
NM_022098.4(XPNPEP3):c.*635C>T
|
rs886057511
|
|
NM_022098.4(XPNPEP3):c.*85G>T
|
rs886057509
|
|
NM_022098.4(XPNPEP3):c.*869T>A
|
rs2058237749
|
|
NM_022098.4(XPNPEP3):c.*995T>C
|
rs2058238193
|
|
NM_022098.4(XPNPEP3):c.-28C>G
|
rs369687517
|
|
NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter)
|
rs2058187525
|
|
NM_022098.4(XPNPEP3):c.1055+15G>A
|
rs5995965
|
|
NM_022098.4(XPNPEP3):c.1055+2T>G
|
rs769010051
|
|
NM_022098.4(XPNPEP3):c.1056-5C>G
|
|
|
NM_022098.4(XPNPEP3):c.1056-8G>A
|
|
|
NM_022098.4(XPNPEP3):c.1077A>G (p.Glu359=)
|
|
|
NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val)
|
|
|
NM_022098.4(XPNPEP3):c.1122C>T (p.Leu374=)
|
rs761504767
|
|
NM_022098.4(XPNPEP3):c.1140C>T (p.Ser380=)
|
rs886057507
|
|
NM_022098.4(XPNPEP3):c.1182G>A (p.Gln394=)
|
|
|
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
|
|
|
NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs)
|
|
|
NM_022098.4(XPNPEP3):c.1236+8_1236+12del
|
rs759227329
|
|
NM_022098.4(XPNPEP3):c.1237-10T>C
|
|
|
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)
|
|
|
NM_022098.4(XPNPEP3):c.1296C>T (p.Asp432=)
|
rs1601522952
|
|
NM_022098.4(XPNPEP3):c.1314T>A (p.Arg438=)
|
|
|
NM_022098.4(XPNPEP3):c.1345A>G (p.Thr449Ala)
|
|
|
NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys)
|
rs267607179
|
|
NM_022098.4(XPNPEP3):c.1363T>C (p.Tyr455His)
|
|
|
NM_022098.4(XPNPEP3):c.1376A>G (p.Asp459Gly)
|
rs1715106644
|
|
NM_022098.4(XPNPEP3):c.1379A>G (p.Asp460Gly)
|
|
|
NM_022098.4(XPNPEP3):c.1402C>T (p.Arg468Trp)
|
|
|
NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala)
|
|
|
NM_022098.4(XPNPEP3):c.1449C>T (p.Asp483=)
|
|
|
NM_022098.4(XPNPEP3):c.1450T>C (p.Ser484Pro)
|
|
|
NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)
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NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile)
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NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn)
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rs2146283516
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NM_022098.4(XPNPEP3):c.182-3T>C
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NM_022098.4(XPNPEP3):c.183G>A (p.Gly61=)
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rs2146250112
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NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)
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NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile)
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NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met)
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NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile)
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NM_022098.4(XPNPEP3):c.297G>A (p.Val99=)
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rs1234430672
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NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu)
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rs2146250280
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NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=)
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NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=)
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NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
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NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=)
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NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
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NM_022098.4(XPNPEP3):c.51C>T (p.Val17=)
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NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=)
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NM_022098.4(XPNPEP3):c.577C>T (p.Pro193Ser)
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NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)
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NM_022098.4(XPNPEP3):c.64+5G>C
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NM_022098.4(XPNPEP3):c.64+9C>A
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NM_022098.4(XPNPEP3):c.65-10C>T
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NM_022098.4(XPNPEP3):c.65-17C>T
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NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter)
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NM_022098.4(XPNPEP3):c.700C>T (p.Arg234Trp)
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NM_022098.4(XPNPEP3):c.720dup (p.Gln241fs)
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rs2146254238
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NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu)
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NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)
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NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln)
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NM_022098.4(XPNPEP3):c.761G>T (p.Arg254Leu)
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NM_022098.4(XPNPEP3):c.774T>C (p.Ala258=)
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NM_022098.4(XPNPEP3):c.792+19A>G
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NM_022098.4(XPNPEP3):c.793-19T>G
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NM_022098.4(XPNPEP3):c.855+11G>A
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NM_022098.4(XPNPEP3):c.856-14G>A
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NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)
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rs373917063
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NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=)
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NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)
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NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs)
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rs2146270895
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NM_022098.4(XPNPEP3):c.969+13C>G
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NM_022098.4(XPNPEP3):c.969+17C>T
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NM_022098.4(XPNPEP3):c.970-18T>A
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NM_022098.4(XPNPEP3):c.970-8T>C
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rs547747361
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Single allele
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