NM_022098.4(XPNPEP3):c.*5327A>C
|
rs141571227
|
0.00471
|
NM_022098.4(XPNPEP3):c.*4990A>G
|
rs146033951
|
0.00245
|
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.*4614A>G
|
rs560735914
|
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.*1249T>C
|
rs886057517
|
0.00036
|
NM_022098.4(XPNPEP3):c.*1161C>G
|
rs764840110
|
0.00029
|
NM_022098.4(XPNPEP3):c.*150T>G
|
rs138316056
|
0.00023
|
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.*1394C>T
|
rs570854426
|
0.00015
|
NM_022098.4(XPNPEP3):c.*1830G>A
|
rs950650459
|
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.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.*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.891T>G (p.Ile297Met)
|
rs746834434
|
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.969+5G>A
|
rs764558082
|
0.00001
|
NC_000022.10:g.(?_41264983)_(41729217_?)dup
|
|
|
NC_000022.10:g.(?_41277754)_(41278201_?)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>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.*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.*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.1093C>G (p.Leu365Val)
|
|
|
NM_022098.4(XPNPEP3):c.1140C>T (p.Ser380=)
|
rs886057507
|
|
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
|
|
|
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)
|
|
|
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.1450T>C (p.Ser484Pro)
|
|
|
NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)
|
|
|
NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile)
|
|
|
NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn)
|
rs2146283516
|
|
NM_022098.4(XPNPEP3):c.182-3T>C
|
|
|
NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile)
|
|
|
NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met)
|
|
|
NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile)
|
|
|
NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu)
|
rs2146250280
|
|
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
|
|
|
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
|
|
|
NM_022098.4(XPNPEP3):c.64+5G>C
|
|
|
NM_022098.4(XPNPEP3):c.700C>T (p.Arg234Trp)
|
|
|
NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu)
|
|
|
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)
|
|
|
NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln)
|
|
|
NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)
|
|
|