NM_014324.5(AMACR):c.-70G>A
|
rs563347179
|
0.00386
|
NM_005989.4(AKR1D1):c.*537T>C
|
rs117215714
|
0.00362
|
NM_005989.4(AKR1D1):c.*1093C>G
|
rs12540340
|
0.00202
|
NM_005989.4(AKR1D1):c.*1288A>C
|
rs554615032
|
0.00150
|
NM_014324.6(AMACR):c.*2044C>A
|
rs529140346
|
0.00135
|
NM_014324.6(AMACR):c.-22C>G
|
rs35448266
|
0.00123
|
NM_014324.6(AMACR):c.*2088A>T
|
rs182361997
|
0.00114
|
NM_005989.4(AKR1D1):c.*710T>C
|
rs187527428
|
0.00093
|
NM_014324.6(AMACR):c.*1942C>T
|
rs543725887
|
0.00092
|
NM_005989.4(AKR1D1):c.*1326C>T
|
rs761355508
|
0.00085
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_014324.6(AMACR):c.*714T>C
|
rs143877467
|
0.00072
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00054
|
NM_014324.6(AMACR):c.*1110G>T
|
rs141969465
|
0.00053
|
NM_005989.4(AKR1D1):c.*1214A>G
|
rs758246977
|
0.00043
|
NM_005989.4(AKR1D1):c.*1185G>A
|
rs551510105
|
0.00042
|
NM_005989.4(AKR1D1):c.*734T>C
|
rs947695035
|
0.00034
|
NM_005989.4(AKR1D1):c.*1352G>A
|
rs567268853
|
0.00031
|
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)
|
rs765322702
|
0.00026
|
NM_014324.6(AMACR):c.*233T>C
|
rs557294515
|
0.00023
|
NM_014324.6(AMACR):c.783G>A (p.Met261Ile)
|
rs9282593
|
0.00022
|
NM_014324.6(AMACR):c.*1032G>C
|
rs550891172
|
0.00021
|
NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val)
|
rs202238711
|
0.00018
|
NM_005989.4(AKR1D1):c.*1124A>G
|
rs2465920
|
0.00017
|
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr)
|
rs138977616
|
0.00016
|
NM_005989.4(AKR1D1):c.*197G>T
|
rs746014627
|
0.00016
|
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)
|
rs755729966
|
0.00014
|
NM_005989.4(AKR1D1):c.*373G>A
|
rs564875098
|
0.00014
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
NM_005989.4(AKR1D1):c.-26T>G
|
rs374681767
|
0.00013
|
NM_014324.6(AMACR):c.*1643T>C
|
rs537161888
|
0.00012
|
NM_014324.6(AMACR):c.*523C>T
|
rs575264685
|
0.00010
|
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys)
|
rs773780945
|
0.00010
|
NM_014324.6(AMACR):c.976C>T (p.Arg326Cys)
|
rs371343345
|
0.00010
|
NM_005989.4(AKR1D1):c.*171T>C
|
rs369864342
|
0.00009
|
NM_014324.6(AMACR):c.518G>A (p.Arg173His)
|
rs201818706
|
0.00009
|
NM_005989.4(AKR1D1):c.*598G>A
|
rs760144602
|
0.00008
|
NM_005989.4(AKR1D1):c.*886T>G
|
rs976591007
|
0.00008
|
NM_014324.6(AMACR):c.662C>T (p.Thr221Met)
|
rs573730345
|
0.00008
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
NM_005989.4(AKR1D1):c.782G>A (p.Arg261His)
|
rs143101649
|
0.00007
|
NM_005989.4(AKR1D1):c.*1343C>T
|
rs150650955
|
0.00006
|
NM_005989.4(AKR1D1):c.*1559A>T
|
rs139772485
|
0.00006
|
NM_005989.4(AKR1D1):c.*944T>C
|
rs886062008
|
0.00006
|
NM_005989.4(AKR1D1):c.261+1G>T
|
rs201988060
|
0.00006
|
NM_014324.6(AMACR):c.*1353G>A
|
rs886060525
|
0.00006
|
NM_014324.6(AMACR):c.*1560G>A
|
rs886060524
|
0.00006
|
NM_014324.6(AMACR):c.247+9G>T
|
rs1361255226
|
0.00006
|
NM_014324.6(AMACR):c.785A>G (p.Asp262Gly)
|
rs141025802
|
0.00006
|
NM_005989.4(AKR1D1):c.*1384T>G
|
rs1459809632
|
0.00005
|
NM_005989.4(AKR1D1):c.*421T>C
|
rs762295047
|
0.00005
|
NM_005989.4(AKR1D1):c.773T>C (p.Ile258Thr)
|
rs777588106
|
0.00005
|
NM_014324.6(AMACR):c.*1931G>C
|
rs563332854
|
0.00005
|
NM_014324.6(AMACR):c.1082G>A (p.Arg361His)
|
rs374668256
|
0.00005
|
NM_014324.6(AMACR):c.*1862C>T
|
rs1016774406
|
0.00004
|
NM_014324.6(AMACR):c.*540T>C
|
rs146385238
|
0.00004
|
NM_014324.6(AMACR):c.100G>C (p.Val34Leu)
|
rs377618695
|
0.00004
|
NM_014324.6(AMACR):c.514A>G (p.Thr172Ala)
|
rs773084615
|
0.00004
|
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser)
|
rs781463041
|
0.00004
|
NM_014324.6(AMACR):c.857del (p.Ile286fs)
|
rs772921347
|
0.00004
|
NM_014324.6(AMACR):c.874G>A (p.Ala292Thr)
|
rs1253952136
|
0.00004
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys)
|
rs1044499833
|
0.00003
|
NM_005989.4(AKR1D1):c.*655T>C
|
rs140378104
|
0.00003
|
NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His)
|
rs201408607
|
0.00003
|
NM_014324.6(AMACR):c.*1853G>A
|
rs886060522
|
0.00003
|
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile)
|
rs368693738
|
0.00003
|
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu)
|
rs367814719
|
0.00003
|
NM_014324.6(AMACR):c.818A>G (p.Asp273Gly)
|
rs1049451904
|
0.00003
|
NM_014324.6(AMACR):c.848G>C (p.Trp283Ser)
|
rs944463227
|
0.00003
|
NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr)
|
rs113361629
|
0.00003
|
NM_005989.4(AKR1D1):c.*102C>A
|
rs1298100020
|
0.00002
|
NM_005989.4(AKR1D1):c.*1084G>A
|
rs1261468821
|
0.00002
|
NM_005989.4(AKR1D1):c.*1282G>A
|
rs534922267
|
0.00002
|
NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu)
|
rs140421486
|
0.00002
|
NM_005989.4(AKR1D1):c.392T>A (p.Ile131Lys)
|
rs760200311
|
0.00002
|
NM_014324.6(AMACR):c.240C>G (p.Phe80Leu)
|
rs1044437141
|
0.00002
|
NM_014324.6(AMACR):c.265C>T (p.Gln89Ter)
|
rs149566702
|
0.00002
|
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg)
|
rs377130820
|
0.00002
|
NM_014324.6(AMACR):c.635T>C (p.Met212Thr)
|
rs145475619
|
0.00002
|
NM_014324.6(AMACR):c.865G>A (p.Gly289Ser)
|
rs766952450
|
0.00002
|
NM_014324.6(AMACR):c.868A>G (p.Thr290Ala)
|
rs759217337
|
0.00002
|
NM_014324.6(AMACR):c.86C>G (p.Ala29Gly)
|
rs773277129
|
0.00002
|
NM_003500.4(ACOX2):c.149G>A (p.Arg50His)
|
rs763287775
|
0.00001
|
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)
|
rs886063072
|
0.00001
|
NM_005989.4(AKR1D1):c.*1036T>C
|
rs1157240213
|
0.00001
|
NM_005989.4(AKR1D1):c.*1091C>T
|
rs886062009
|
0.00001
|
NM_005989.4(AKR1D1):c.*1298A>G
|
rs886062011
|
0.00001
|
NM_005989.4(AKR1D1):c.*432A>G
|
rs1432820342
|
0.00001
|
NM_005989.4(AKR1D1):c.454G>A (p.Glu152Lys)
|
rs1457496759
|
0.00001
|
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)
|
rs753124330
|
0.00001
|
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)
|
rs1433614577
|
0.00001
|
NM_014324.5(AMACR):c.-40G>A
|
rs553007226
|
0.00001
|
NM_014324.6(AMACR):c.*1181G>A
|
rs886060526
|
0.00001
|
NM_014324.6(AMACR):c.*1367T>C
|
rs752473789
|
0.00001
|
NM_014324.6(AMACR):c.*1622T>C
|
rs886060523
|
0.00001
|
NM_014324.6(AMACR):c.*1875C>T
|
rs1006230629
|
0.00001
|
NM_014324.6(AMACR):c.1045C>G (p.His349Asp)
|
rs779722935
|
0.00001
|
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys)
|
rs761488582
|
0.00001
|
NM_014324.6(AMACR):c.106C>T (p.Arg36Trp)
|
rs769044213
|
0.00001
|
NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys)
|
rs774406448
|
0.00001
|
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly)
|
rs200270822
|
0.00001
|
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn)
|
rs1484335138
|
0.00001
|
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter)
|
rs1561047456
|
0.00001
|
NM_014324.6(AMACR):c.235C>G (p.Pro79Ala)
|
rs938653823
|
0.00001
|
NM_014324.6(AMACR):c.254T>C (p.Met85Thr)
|
rs936948409
|
0.00001
|
NM_014324.6(AMACR):c.317G>A (p.Arg106Lys)
|
rs752862912
|
0.00001
|
NM_014324.6(AMACR):c.319C>A (p.Leu107Met)
|
rs1376599461
|
0.00001
|
NM_014324.6(AMACR):c.364C>T (p.His122Tyr)
|
rs1279600909
|
0.00001
|
NM_014324.6(AMACR):c.366C>T (p.His122=)
|
rs775128044
|
0.00001
|
NM_014324.6(AMACR):c.367G>A (p.Asp123Asn)
|
rs771615304
|
0.00001
|
NM_014324.6(AMACR):c.387G>C (p.Leu129Phe)
|
rs917667584
|
0.00001
|
NM_014324.6(AMACR):c.407T>C (p.Ile136Thr)
|
rs1753921208
|
0.00001
|
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp)
|
rs777768049
|
0.00001
|
NM_014324.6(AMACR):c.423G>C (p.Glu141Asp)
|
rs748131178
|
0.00001
|
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile)
|
rs1057520170
|
0.00001
|
NM_014324.6(AMACR):c.48G>A (p.Pro16=)
|
rs144271819
|
0.00001
|
NM_014324.6(AMACR):c.512G>A (p.Arg171His)
|
rs770694101
|
0.00001
|
NM_014324.6(AMACR):c.553-3A>G
|
rs775486138
|
0.00001
|
NM_014324.6(AMACR):c.670A>G (p.Arg224Gly)
|
rs1348790589
|
0.00001
|
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly)
|
rs553965377
|
0.00001
|
NM_014324.6(AMACR):c.749T>G (p.Leu250Arg)
|
rs1464991426
|
0.00001
|
NM_014324.6(AMACR):c.806A>T (p.Lys269Met)
|
rs142887272
|
0.00001
|
NM_014324.6(AMACR):c.826G>C (p.Ala276Pro)
|
rs200687238
|
0.00001
|
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro)
|
rs371707295
|
0.00001
|
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu)
|
rs774180397
|
0.00001
|
NM_014324.6(AMACR):c.934C>T (p.Arg312Trp)
|
rs201507169
|
0.00001
|
NM_014324.6(AMACR):c.965A>T (p.Asp322Val)
|
rs575263204
|
0.00001
|
NM_014324.6(AMACR):c.994T>G (p.Leu332Val)
|
rs1265714665
|
0.00001
|
NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys)
|
rs907386068
|
0.00001
|
NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met)
|
rs141929596
|
0.00001
|
NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp)
|
rs746884533
|
0.00001
|
NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys)
|
rs1020519659
|
0.00001
|
NC_000005.9:g.(?_33944753)_(35089722_?)dup
|
|
|
NC_000005.9:g.(?_33986409)_(33989627_?)dup
|
|
|
NC_000005.9:g.(?_34007858)_(34008124_?)del
|
|
|
NC_000005.9:g.(?_34007858)_(34935958_?)dup
|
|
|
NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)
|
|
|
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)
|
rs1453813439
|
|
NM_004820.5(CYP7B1):c.1109G>A (p.Arg370His)
|
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
NM_005989.4(AKR1D1):c.*1086G>A
|
rs1043343454
|
|
NM_005989.4(AKR1D1):c.*1139G>T
|
rs566511122
|
|
NM_005989.4(AKR1D1):c.*1153C>T
|
rs112833888
|
|
NM_005989.4(AKR1D1):c.*1173A>C
|
rs111628978
|
|
NM_005989.4(AKR1D1):c.*1173A>T
|
rs111628978
|
|
NM_005989.4(AKR1D1):c.*1199T>A
|
rs886062010
|
|
NM_005989.4(AKR1D1):c.*1218G>A
|
rs913668617
|
|
NM_005989.4(AKR1D1):c.*1229G>C
|
rs564962238
|
|
NM_005989.4(AKR1D1):c.*1305C>A
|
rs143946931
|
|
NM_005989.4(AKR1D1):c.*1372dup
|
rs199524592
|
|
NM_005989.4(AKR1D1):c.*1435G>A
|
rs571386408
|
|
NM_005989.4(AKR1D1):c.*1631A>C
|
rs1794680646
|
|
NM_005989.4(AKR1D1):c.*294C>A
|
rs886062005
|
|
NM_005989.4(AKR1D1):c.*298A>G
|
rs886062006
|
|
NM_005989.4(AKR1D1):c.*375A>G
|
rs1794647761
|
|
NM_005989.4(AKR1D1):c.*667C>T
|
rs911290733
|
|
NM_005989.4(AKR1D1):c.*748C>T
|
rs146490110
|
|
NM_005989.4(AKR1D1):c.*834T>G
|
rs1794657409
|
|
NM_005989.4(AKR1D1):c.*897T>C
|
rs886062007
|
|
NM_005989.4(AKR1D1):c.*914C>T
|
rs541055311
|
|
NM_005989.4(AKR1D1):c.*933T>C
|
rs951288773
|
|
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)
|
|
|
NM_005989.4(AKR1D1):c.195G>A (p.Gly65=)
|
rs1793989572
|
|
NM_005989.4(AKR1D1):c.21T>G (p.Ser7Arg)
|
rs769312349
|
|
NM_005989.4(AKR1D1):c.297C>T (p.Arg99=)
|
rs1794085311
|
|
NM_005989.4(AKR1D1):c.346C>G (p.Leu116Val)
|
rs886062004
|
|
NM_005989.4(AKR1D1):c.642T>C (p.Ile214=)
|
rs1585738925
|
|
NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr)
|
rs1794440472
|
|
NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)
|
|
|
NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg)
|
rs1562937700
|
|
NM_005989.4(AKR1D1):c.689+1G>T
|
rs575025641
|
|
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)
|
rs1315777461
|
|
NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr)
|
|
|
NM_014324.6(AMACR):c.*1178G>A
|
rs886060527
|
|
NM_014324.6(AMACR):c.*1764A>C
|
rs1383745386
|
|
NM_014324.6(AMACR):c.*1985G>A
|
rs971469605
|
|
NM_014324.6(AMACR):c.*2093A>G
|
rs886060521
|
|
NM_014324.6(AMACR):c.*439A>G
|
rs533094975
|
|
NM_014324.6(AMACR):c.*573dup
|
rs886060528
|
|
NM_014324.6(AMACR):c.*805C>A
|
rs367582757
|
|
NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser)
|
|
|
NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)
|
|
|
NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)
|
|
|
NM_014324.6(AMACR):c.1040dup (p.Glu348fs)
|
rs1255254263
|
|
NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)
|
|
|
NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)
|
|
|
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg)
|
rs773780297
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
NM_014324.6(AMACR):c.1108G>C (p.Asp370His)
|
|
|
NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly)
|
rs2112032028
|
|
NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)
|
|
|
NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)
|
|
|
NM_014324.6(AMACR):c.116C>T (p.Ser39Phe)
|
rs2112078262
|
|
NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)
|
|
|
NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)
|
|
|
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)
|
rs1554006390
|
|
NM_014324.6(AMACR):c.137T>G (p.Leu46Trp)
|
rs1396372839
|
|
NM_014324.6(AMACR):c.139G>T (p.Gly47Cys)
|
rs2112078140
|
|
NM_014324.6(AMACR):c.13G>A (p.Gly5Ser)
|
rs1192420459
|
|
NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)
|
|
|
NM_014324.6(AMACR):c.149A>G (p.Lys50Arg)
|
|
|
NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)
|
|
|
NM_014324.6(AMACR):c.160G>C (p.Val54Leu)
|
|
|
NM_014324.6(AMACR):c.179C>T (p.Pro60Leu)
|
|
|
NM_014324.6(AMACR):c.184G>T (p.Gly62Ter)
|
rs891858540
|
|
NM_014324.6(AMACR):c.187G>A (p.Ala63Thr)
|
|
|
NM_014324.6(AMACR):c.193G>A (p.Val65Met)
|
rs1306513083
|
|
NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)
|
|
|
NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)
|
|
|
NM_014324.6(AMACR):c.203G>T (p.Arg68Leu)
|
rs2112077728
|
|
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro)
|
rs915168123
|
|
NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)
|
|
|
NM_014324.6(AMACR):c.223G>C (p.Val75Leu)
|
|
|
NM_014324.6(AMACR):c.253A>G (p.Met85Val)
|
rs746627394
|
|
NM_014324.6(AMACR):c.255G>A (p.Met85Ile)
|
|
|
NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)
|
|
|
NM_014324.6(AMACR):c.275del (p.Pro92fs)
|
|
|
NM_014324.6(AMACR):c.27G>A (p.Val9=)
|
rs780679627
|
|
NM_014324.6(AMACR):c.283C>G (p.Leu95Val)
|
rs2112072698
|
|
NM_014324.6(AMACR):c.289C>A (p.Arg97=)
|
rs757072374
|
|
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp)
|
rs757072374
|
|
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro)
|
rs139273474
|
|
NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)
|
|
|
NM_014324.6(AMACR):c.31C>G (p.Leu11Val)
|
rs1032174171
|
|
NM_014324.6(AMACR):c.323G>C (p.Ser108Thr)
|
|
|
NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)
|
|
|
NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)
|
|
|
NM_014324.6(AMACR):c.352C>T (p.Arg118Trp)
|
|
|
NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe)
|
|
|
NM_014324.6(AMACR):c.370A>G (p.Ile124Val)
|
rs1477299437
|
|
NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)
|
|
|
NM_014324.6(AMACR):c.38G>T (p.Gly13Val)
|
|
|
NM_014324.6(AMACR):c.391+3A>G
|
rs1753952875
|
|
NM_014324.6(AMACR):c.391+4T>A
|
|
|
NM_014324.6(AMACR):c.394G>A (p.Val132Ile)
|
|
|
NM_014324.6(AMACR):c.419G>A (p.Gly140Asp)
|
rs2112070079
|
|
NM_014324.6(AMACR):c.421G>A (p.Glu141Lys)
|
rs2112070061
|
|
NM_014324.6(AMACR):c.422A>C (p.Glu141Ala)
|
rs2112070052
|
|
NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)
|
|
|
NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)
|
|
|
NM_014324.6(AMACR):c.43del (p.Ala15fs)
|
|
|
NM_014324.6(AMACR):c.476T>C (p.Met159Thr)
|
|
|
NM_014324.6(AMACR):c.496A>G (p.Met166Val)
|
|
|
NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)
|
|
|
NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)
|
|
|
NM_014324.6(AMACR):c.517C>T (p.Arg173Cys)
|
|
|
NM_014324.6(AMACR):c.538A>G (p.Ile180Val)
|
|
|
NM_014324.6(AMACR):c.544G>A (p.Ala182Thr)
|
rs2112069628
|
|
NM_014324.6(AMACR):c.547A>G (p.Asn183Asp)
|
rs2112069615
|
|
NM_014324.6(AMACR):c.552+3A>T
|
|
|
NM_014324.6(AMACR):c.552+4A>T
|
|
|
NM_014324.6(AMACR):c.553-1G>A
|
|
|
NM_014324.6(AMACR):c.553-5C>A
|
rs1753722683
|
|
NM_014324.6(AMACR):c.563C>G (p.Thr188Arg)
|
|
|
NM_014324.6(AMACR):c.566C>T (p.Ala189Val)
|
|
|
NM_014324.6(AMACR):c.572T>A (p.Leu191Ter)
|
rs2112054992
|
|
NM_014324.6(AMACR):c.580T>C (p.Phe194Leu)
|
rs2112054973
|
|
NM_014324.6(AMACR):c.602T>G (p.Leu201Trp)
|
rs2287939
|
|
NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)
|
|
|
NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)
|
|
|
NM_014324.6(AMACR):c.61G>T (p.Ala21Ser)
|
rs2112078509
|
|
NM_014324.6(AMACR):c.623G>A (p.Arg208Gln)
|
rs975712828
|
|
NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)
|
|
|
NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)
|
|
|
NM_014324.6(AMACR):c.698T>C (p.Val233Ala)
|
rs76184600
|
|
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu)
|
rs778295213
|
|
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
|
|
|
NM_014324.6(AMACR):c.728T>G (p.Leu243Arg)
|
rs2112054267
|
|
NM_014324.6(AMACR):c.737A>G (p.Lys246Arg)
|
rs2112054224
|
|
NM_014324.6(AMACR):c.739+3A>C
|
|
|
NM_014324.6(AMACR):c.740-2del
|
rs2112033441
|
|
NM_014324.6(AMACR):c.740-3C>T
|
|
|
NM_014324.6(AMACR):c.740-5C>G
|
rs770927461
|
|
NM_014324.6(AMACR):c.740-8_740-6delinsGGA
|
rs2112033482
|
|
NM_014324.6(AMACR):c.755C>T (p.Ser252Phe)
|
|
|
NM_014324.6(AMACR):c.774G>C (p.Gln258His)
|
rs1753409460
|
|
NM_014324.6(AMACR):c.775A>G (p.Met259Val)
|
rs2112033298
|
|
NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)
|
|
|
NM_014324.6(AMACR):c.781A>T (p.Met261Leu)
|
rs878852990
|
|
NM_014324.6(AMACR):c.793C>A (p.Pro265Thr)
|
rs2112033195
|
|
NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)
|
|
|
NM_014324.6(AMACR):c.803A>T (p.Lys268Met)
|
rs151086469
|
|
NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)
|
|
|
NM_014324.6(AMACR):c.820G>A (p.Val274Ile)
|
rs769669689
|
|
NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)
|
|
|
NM_014324.6(AMACR):c.849G>A (p.Trp283Ter)
|
rs2112032937
|
|
NM_014324.6(AMACR):c.856A>G (p.Ile286Val)
|
|
|
NM_014324.6(AMACR):c.884C>T (p.Thr295Ile)
|
rs2112032792
|
|
NM_014324.6(AMACR):c.889G>A (p.Val297Ile)
|
rs886060530
|
|
NM_014324.6(AMACR):c.89G>A (p.Arg30His)
|
rs1370754918
|
|
NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu)
|
rs2112032750
|
|
NM_014324.6(AMACR):c.913C>T (p.His305Tyr)
|
|
|
NM_014324.6(AMACR):c.914A>T (p.His305Leu)
|
|
|
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser)
|
rs886060529
|
|
NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)
|
|
|
NM_014324.6(AMACR):c.941C>T (p.Ser314Leu)
|
rs747129541
|
|
NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)
|
|
|
NM_014324.6(AMACR):c.94G>A (p.Val32Ile)
|
rs762048386
|
|
NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)
|
|
|
NM_014324.6(AMACR):c.967G>A (p.Val323Met)
|
|
|
NM_014324.6(AMACR):c.967G>T (p.Val323Leu)
|
|
|
NM_014324.6(AMACR):c.976dup (p.Arg326fs)
|
rs1266524888
|
|
NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)
|
|
|
NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg)
|
|
|
NM_025193.4(HSD3B7):c.569G>A (p.Arg190His)
|
|
|
NM_025193.4(HSD3B7):c.968C>T (p.Thr323Met)
|
|
|