NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=)
|
rs1894658
|
0.01750
|
NM_022098.4(XPNPEP3):c.590-9C>T
|
rs149370388
|
0.00467
|
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.817A>G (p.Ser273Gly)
|
rs138501598
|
0.00085
|
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=)
|
rs139991468
|
0.00072
|
NM_022098.4(XPNPEP3):c.970-9T>C
|
rs117568682
|
0.00066
|
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln)
|
rs79385822
|
0.00051
|
NM_022098.4(XPNPEP3):c.1357+19A>G
|
rs139881907
|
0.00024
|
NM_022098.4(XPNPEP3):c.793-18C>T
|
rs201917593
|
0.00021
|
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.1516G>A (p.Ala506Thr)
|
rs139592817
|
0.00012
|
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
|
rs137859412
|
0.00012
|
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.1313G>A (p.Arg438His)
|
rs766361465
|
0.00007
|
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg)
|
rs753043524
|
0.00007
|
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.1049A>G (p.Asn350Ser)
|
rs768828532
|
0.00004
|
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
|
rs146309087
|
0.00003
|
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.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
|
|
|
NC_000022.10:g.(?_41282297)_(41282539_?)del
|
|
|
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.1182G>A (p.Gln394=)
|
|
|
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
|
|
|
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.1363T>C (p.Tyr455His)
|
|
|
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)
|
|
|
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.183G>A (p.Gly61=)
|
rs2146250112
|
|
NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)
|
|
|
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.297G>A (p.Val99=)
|
rs1234430672
|
|
NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu)
|
rs2146250280
|
|
NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=)
|
|
|
NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=)
|
|
|
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
|
|
|
NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=)
|
|
|
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
|
|
|
NM_022098.4(XPNPEP3):c.51C>T (p.Val17=)
|
|
|
NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=)
|
|
|
NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)
|
|
|
NM_022098.4(XPNPEP3):c.64+5G>C
|
|
|
NM_022098.4(XPNPEP3):c.64+9C>A
|
|
|
NM_022098.4(XPNPEP3):c.65-10C>T
|
|
|
NM_022098.4(XPNPEP3):c.65-17C>T
|
|
|
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.761G>T (p.Arg254Leu)
|
|
|
NM_022098.4(XPNPEP3):c.774T>C (p.Ala258=)
|
|
|
NM_022098.4(XPNPEP3):c.792+19A>G
|
|
|
NM_022098.4(XPNPEP3):c.793-19T>G
|
|
|
NM_022098.4(XPNPEP3):c.855+11G>A
|
|
|
NM_022098.4(XPNPEP3):c.856-14G>A
|
|
|
NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)
|
rs373917063
|
|
NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=)
|
|
|
NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)
|
|
|
NM_022098.4(XPNPEP3):c.969+13C>G
|
|
|
NM_022098.4(XPNPEP3):c.969+17C>T
|
|
|
NM_022098.4(XPNPEP3):c.970-18T>A
|
|
|
NM_022098.4(XPNPEP3):c.970-8T>C
|
rs547747361
|
|