NM_000388.4(CASR):c.2244= (p.Pro748=)
|
rs1553769059
|
0.99999
|
NM_000388.4(CASR):c.2244G>C (p.Pro748=)
|
rs2036400
|
0.97432
|
NM_004795.4(KL):c.2619T>C (p.Asn873=)
|
rs649964
|
0.97241
|
NM_000388.4(CASR):c.*574C>G
|
rs6438718
|
0.96802
|
NM_004795.4(KL):c.273T>C (p.Asp91=)
|
rs2772364
|
0.94529
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
NM_006580.4(CLDN16):c.*1763T>A
|
rs9844654
|
0.84514
|
NM_004795.4(KL):c.2701+22T>A
|
rs650439
|
0.81086
|
NM_004795.4(KL):c.2247T>C (p.Ala749=)
|
rs648202
|
0.76534
|
NC_000003.12:g.122183002G>A
|
rs6776158
|
0.61708
|
NM_000388.4(CASR):c.1609-89C>T
|
rs4678174
|
0.55250
|
NM_000388.4(CASR):c.*1198T>C
|
rs10190
|
0.54750
|
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)
|
rs2296241
|
0.51337
|
NM_004069.6(AP2S1):c.154-32T>G
|
rs312185
|
0.51023
|
NM_000782.5(CYP24A1):c.*1256_*1257insAT
|
rs10623012
|
0.49683
|
NM_004482.4(GALNT3):c.*281T>A
|
rs13429321
|
0.39072
|
NM_004795.4(KL):c.1767C>T (p.His589=)
|
rs564481
|
0.30857
|
NM_000782.4(CYP24A1):c.*1327G>A
|
rs4811494
|
0.30270
|
NM_000782.5(CYP24A1):c.*140T>C
|
rs4809957
|
0.28683
|
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=)
|
rs2296239
|
0.28667
|
NM_000388.4(CASR):c.*1015A>G
|
rs9740
|
0.27327
|
NM_000782.5(CYP24A1):c.*715C>G
|
rs6022987
|
0.27231
|
NM_003052.5(SLC34A1):c.774T>C (p.His258=)
|
rs5030873
|
0.24542
|
NM_020638.3(FGF23):c.*1429A>T
|
rs11063112
|
0.22976
|
NM_006580.4(CLDN16):c.*794T>C
|
rs2293532
|
0.19740
|
NM_003052.5(SLC34A1):c.389-20C>T
|
rs3812036
|
0.19698
|
NM_006580.4(CLDN16):c.114+10T>C
|
rs1491994
|
0.18734
|
NM_006580.4(CLDN16):c.-45G>C
|
rs3214506
|
0.18663
|
NM_000782.5(CYP24A1):c.*50C>T
|
rs2762934
|
0.17757
|
NM_006580.4(CLDN16):c.*1117G>A
|
rs10470534
|
0.17644
|
NM_000388.4(CASR):c.*1093C>T
|
rs1802757
|
0.17297
|
NM_004795.4(KL):c.1109G>C (p.Cys370Ser)
|
rs9527025
|
0.15805
|
NM_004795.4(KL):c.1155G>A (p.Lys385=)
|
rs9527026
|
0.15795
|
NM_004795.4(KL):c.1054T>G (p.Phe352Val)
|
rs9536314
|
0.15781
|
NM_020638.3(FGF23):c.716C>T (p.Thr239Met)
|
rs7955866
|
0.11385
|
NM_000388.4(CASR):c.1732+16T>C
|
rs2270916
|
0.11379
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_006580.4(CLDN16):c.*842C>T
|
rs77656241
|
0.09613
|
NM_000782.5(CYP24A1):c.744G>A (p.Thr248=)
|
rs6068816
|
0.08737
|
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)
|
rs1042636
|
0.08688
|
NM_000388.4(CASR):c.3031= (p.Glu1011=)
|
rs1801726
|
0.08251
|
NM_000782.5(CYP24A1):c.990+9G>A
|
rs6022993
|
0.07682
|
NM_000782.5(CYP24A1):c.*872C>T
|
rs11907350
|
0.07142
|
NM_000388.4(CASR):c.*1235A>G
|
rs34042920
|
0.06757
|
NM_000782.5(CYP24A1):c.-76C>T
|
rs73913755
|
0.05036
|
NM_000782.5(CYP24A1):c.-400G>A
|
rs73913757
|
0.04441
|
NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=)
|
rs61730999
|
0.04268
|
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr)
|
rs117649834
|
0.03101
|
NM_004795.4(KL):c.1593C>T (p.Tyr531=)
|
rs62637617
|
0.03076
|
NM_000782.5(CYP24A1):c.*438C>T
|
rs16999060
|
0.02867
|
NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr)
|
rs6022990
|
0.02863
|
NM_000782.5(CYP24A1):c.*77T>G
|
rs16999067
|
0.02858
|
NM_004482.4(GALNT3):c.-295T>A
|
rs111425435
|
0.02796
|
NM_004795.4(KL):c.*1286A>G
|
rs41292181
|
0.02431
|
NM_006580.4(CLDN16):c.*907A>G
|
rs116488781
|
0.02277
|
NM_006580.4(CLDN16):c.*1833G>A
|
rs116119310
|
0.02172
|
NM_006580.4(CLDN16):c.*1779A>C
|
rs115514339
|
0.01992
|
NM_000782.5(CYP24A1):c.-94A>G
|
rs74424092
|
0.01798
|
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=)
|
rs61755338
|
0.01605
|
NM_000782.5(CYP24A1):c.-100T>C
|
rs144737632
|
0.01502
|
NM_004795.4(KL):c.1540C>T (p.Pro514Ser)
|
rs3752472
|
0.01461
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_003052.5(SLC34A1):c.389-5C>T
|
rs189794265
|
0.01364
|
NM_006580.4(CLDN16):c.*204C>T
|
rs73053979
|
0.01330
|
NM_004795.4(KL):c.*543G>A
|
rs116819287
|
0.01299
|
NM_006580.4(CLDN16):c.*1453G>C
|
rs13076274
|
0.01276
|
NM_004795.4(KL):c.*510C>T
|
rs77813367
|
0.01271
|
NM_004795.4(KL):c.*1664T>C
|
rs116627995
|
0.01270
|
NM_004795.4(KL):c.*1455A>G
|
rs77174048
|
0.01269
|
NM_004795.4(KL):c.1407T>C (p.Gly469=)
|
rs138916294
|
0.01262
|
NM_020638.3(FGF23):c.*1079A>G
|
rs13312798
|
0.01230
|
NM_004795.4(KL):c.140G>A (p.Arg47Gln)
|
rs201936594
|
0.01179
|
NM_004795.4(KL):c.*407T>C
|
rs75520088
|
0.01175
|
NM_004482.4(GALNT3):c.799G>T (p.Val267Phe)
|
rs114933655
|
0.01135
|
NM_004795.4(KL):c.*722T>C
|
rs183407162
|
0.01088
|
NM_004482.4(GALNT3):c.*783A>G
|
rs115493554
|
0.01034
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_020638.3(FGF23):c.*23T>G
|
rs13312794
|
0.00893
|
NM_004795.4(KL):c.595C>T (p.Arg199Cys)
|
rs200063460
|
0.00849
|
NM_004482.4(GALNT3):c.669G>A (p.Val223=)
|
rs13423840
|
0.00802
|
NM_000782.5(CYP24A1):c.*716G>A
|
rs75213738
|
0.00792
|
NM_004482.4(GALNT3):c.1827T>C (p.Asn609=)
|
rs142136047
|
0.00763
|
NM_004795.4(KL):c.*1619T>C
|
rs114924800
|
0.00745
|
NM_004795.4(KL):c.326T>G (p.Leu109Arg)
|
rs35239775
|
0.00735
|
NM_020638.3(FGF23):c.*388G>A
|
rs13312795
|
0.00731
|
NM_004482.4(GALNT3):c.*515G>A
|
rs144354033
|
0.00728
|
NM_004795.4(KL):c.320C>T (p.Ala107Val)
|
rs115511178
|
0.00702
|
NM_004795.4(KL):c.87C>T (p.Arg29=)
|
rs528826951
|
0.00696
|
NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys)
|
rs35041121
|
0.00671
|
NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile)
|
rs146521644
|
0.00668
|
NM_004795.4(KL):c.607G>T (p.Ala203Ser)
|
rs116289670
|
0.00657
|
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)
|
rs144380633
|
0.00655
|
NM_006580.4(CLDN16):c.*1234A>C
|
rs144651280
|
0.00638
|
NM_004482.4(GALNT3):c.*186C>T
|
rs183674066
|
0.00613
|
NM_006580.4(CLDN16):c.*181C>T
|
rs145675747
|
0.00570
|
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys)
|
rs35328951
|
0.00553
|
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)
|
rs150107667
|
0.00542
|
NM_000782.5(CYP24A1):c.1529C>T (p.Ala510Val)
|
rs116065115
|
0.00529
|
NM_004795.4(KL):c.393C>A (p.Asn131Lys)
|
rs79554512
|
0.00458
|
NM_004795.4(KL):c.327G>C (p.Leu109=)
|
rs116810451
|
0.00457
|
NM_004795.4(KL):c.91C>T (p.Leu31=)
|
rs540806300
|
0.00421
|
NM_020638.3(FGF23):c.*1971T>C
|
rs140798293
|
0.00403
|
NM_020638.3(FGF23):c.*1471C>A
|
rs114125104
|
0.00388
|
NM_020638.3(FGF23):c.*1219C>T
|
rs115582772
|
0.00387
|
NM_020638.3(FGF23):c.*1316C>A
|
rs138576496
|
0.00387
|
NM_020638.3(FGF23):c.*1464T>C
|
rs144700678
|
0.00387
|
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)
|
rs35051736
|
0.00377
|
NM_004482.4(GALNT3):c.407A>G (p.Glu136Gly)
|
rs114745771
|
0.00319
|
NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp)
|
rs139846352
|
0.00314
|
NM_006580.4(CLDN16):c.*1427A>G
|
rs191406701
|
0.00311
|
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)
|
rs13312793
|
0.00310
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
NM_006580.3(CLDN16):c.-41C>T
|
rs192579160
|
0.00298
|
NM_020638.3(FGF23):c.*1772G>A
|
rs13312800
|
0.00298
|
NM_004482.4(GALNT3):c.132A>G (p.Gln44=)
|
rs149809222
|
0.00293
|
NM_020638.3(FGF23):c.423G>T (p.Ala141=)
|
rs13312792
|
0.00290
|
NM_006580.4(CLDN16):c.*243C>T
|
rs142380851
|
0.00278
|
NM_006580.4(CLDN16):c.*2098T>G
|
rs187708101
|
0.00276
|
NM_006580.4(CLDN16):c.*1952C>G
|
rs555889249
|
0.00266
|
NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu)
|
rs149116671
|
0.00248
|
NM_006580.3(CLDN16):c.-3A>T
|
rs200322099
|
0.00238
|
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile)
|
rs143647583
|
0.00222
|
NM_004795.4(KL):c.*1324A>G
|
rs185425841
|
0.00220
|
NM_006580.4(CLDN16):c.*1883T>G
|
rs573815116
|
0.00220
|
NM_000782.5(CYP24A1):c.*1135C>T
|
rs149240951
|
0.00215
|
NM_006580.4(CLDN16):c.165T>C (p.Phe55=)
|
rs144105475
|
0.00208
|
NM_004795.4(KL):c.1371A>C (p.Ala457=)
|
rs150268586
|
0.00202
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_004795.4(KL):c.2626G>A (p.Asp876Asn)
|
rs146235320
|
0.00193
|
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His)
|
rs114579367
|
0.00192
|
NM_004482.4(GALNT3):c.*870A>T
|
rs189290881
|
0.00180
|
NM_006580.4(CLDN16):c.*1491A>G
|
rs113286536
|
0.00177
|
NM_000782.5(CYP24A1):c.-307G>T
|
rs562743240
|
0.00172
|
NM_020638.3(FGF23):c.*1886C>A
|
rs183802802
|
0.00169
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_020638.3(FGF23):c.*553C>A
|
rs80210924
|
0.00163
|
NM_020638.3(FGF23):c.211+19T>C
|
rs141828684
|
0.00162
|
NM_004795.4(KL):c.*1372T>A
|
rs189084711
|
0.00144
|
NM_004795.4(KL):c.*1347C>G
|
rs556051453
|
0.00143
|
NM_020638.3(FGF23):c.*29C>G
|
rs71534281
|
0.00140
|
NM_006580.4(CLDN16):c.532T>C (p.Leu178=)
|
rs143316426
|
0.00135
|
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
|
rs117375173
|
0.00128
|
NM_000782.5(CYP24A1):c.*1091C>T
|
rs531896457
|
0.00116
|
NM_004482.4(GALNT3):c.-252C>T
|
rs540533361
|
0.00115
|
NM_004795.4(KL):c.*380A>G
|
rs191750865
|
0.00112
|
NM_004069.6(AP2S1):c.75T>C (p.Asp25=)
|
rs150080027
|
0.00111
|
NM_004795.4(KL):c.2532G>A (p.Gln844=)
|
rs149775738
|
0.00111
|
NM_003052.5(SLC34A1):c.260-4C>A
|
rs200580283
|
0.00109
|
NM_000782.5(CYP24A1):c.640+15C>G
|
rs117685582
|
0.00103
|
NM_000388.4(CASR):c.-154T>A
|
rs186365367
|
0.00101
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_004795.4(KL):c.15C>T (p.Ala5=)
|
rs934153273
|
0.00098
|
NM_000782.5(CYP24A1):c.*885T>G
|
rs182056037
|
0.00095
|
NM_004482.4(GALNT3):c.507A>G (p.Arg169=)
|
rs150682922
|
0.00092
|
NM_002067.5(GNA11):c.705C>T (p.Tyr235=)
|
rs138168314
|
0.00091
|
NM_004482.4(GALNT3):c.-246A>C
|
rs759149342
|
0.00091
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
NM_020638.3(FGF23):c.*1575T>C
|
rs562433374
|
0.00088
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_006580.4(CLDN16):c.*1872C>A
|
rs563600967
|
0.00079
|
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)
|
rs77922936
|
0.00078
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_004795.4(KL):c.*32A>G
|
rs373955636
|
0.00071
|
NM_004795.4(KL):c.2688C>T (p.Asn896=)
|
rs145682430
|
0.00067
|
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys)
|
rs115260488
|
0.00065
|
NM_002067.5(GNA11):c.885C>T (p.Phe295=)
|
rs147368872
|
0.00065
|
NM_006580.3(CLDN16):c.-136T>C
|
rs534883127
|
0.00065
|
NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met)
|
rs149806586
|
0.00064
|
NM_020638.3(FGF23):c.*235C>T
|
rs566868058
|
0.00064
|
NM_000388.4(CASR):c.906C>T (p.Ser302=)
|
rs201067850
|
0.00063
|
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=)
|
rs116104487
|
0.00062
|
NM_000388.4(CASR):c.*923T>C
|
rs201230484
|
0.00061
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_004795.4(KL):c.537G>C (p.Arg179=)
|
rs769292412
|
0.00060
|
NM_004795.4(KL):c.1188A>G (p.Gln396=)
|
rs139912465
|
0.00053
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_004795.4(KL):c.1419G>A (p.Arg473=)
|
rs144181834
|
0.00052
|
NM_000388.4(CASR):c.915C>A (p.Ile305=)
|
rs200528343
|
0.00051
|
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala)
|
rs201109695
|
0.00051
|
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)
|
rs137909349
|
0.00050
|
NM_000782.5(CYP24A1):c.*748G>A
|
rs371011704
|
0.00048
|
NM_004795.4(KL):c.*1894T>G
|
rs763468774
|
0.00048
|
NM_004795.4(KL):c.2571C>A (p.Asn857Lys)
|
rs140707985
|
0.00048
|
NM_020638.3(FGF23):c.342G>A (p.Arg114=)
|
rs138972495
|
0.00048
|
NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser)
|
rs76747058
|
0.00046
|
NM_000388.4(CASR):c.1733-9A>G
|
rs190731787
|
0.00044
|
NM_004069.6(AP2S1):c.261C>T (p.Phe87=)
|
rs151335841
|
0.00042
|
NM_004795.4(KL):c.*793G>T
|
rs568826729
|
0.00042
|
NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg)
|
rs146404747
|
0.00041
|
NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile)
|
rs114930663
|
0.00041
|
NM_004482.4(GALNT3):c.189G>A (p.Leu63=)
|
rs188814778
|
0.00041
|
NM_000388.4(CASR):c.*1201C>T
|
rs886057837
|
0.00039
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_004795.4(KL):c.1945C>T (p.Arg649Cys)
|
rs199843173
|
0.00037
|
NM_003052.5(SLC34A1):c.1416+5G>A
|
rs202081023
|
0.00036
|
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp)
|
rs143136193
|
0.00036
|
NM_004795.4(KL):c.*934T>A
|
rs151258919
|
0.00036
|
NM_006580.4(CLDN16):c.*1348A>G
|
rs753612393
|
0.00036
|
NM_006580.4(CLDN16):c.562T>C (p.Tyr188His)
|
rs143097871
|
0.00036
|
NM_000388.4(CASR):c.1491C>T (p.Ser497=)
|
rs150337940
|
0.00035
|
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
|
rs76327999
|
0.00034
|
NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile)
|
rs112596218
|
0.00030
|
NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala)
|
rs139655790
|
0.00029
|
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter)
|
rs376963628
|
0.00029
|
NM_006580.3(CLDN16):c.-6C>T
|
rs557493885
|
0.00029
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
NM_020638.3(FGF23):c.*2062A>C
|
rs558079364
|
0.00028
|
NM_000388.4(CASR):c.1110G>A (p.Val370=)
|
rs150412204
|
0.00027
|
NM_006580.4(CLDN16):c.*1812A>G
|
rs138543261
|
0.00027
|
NM_000388.4(CASR):c.885C>T (p.Ala295=)
|
rs147307274
|
0.00026
|
NM_004795.4(KL):c.614G>A (p.Gly205Asp)
|
rs200611452
|
0.00026
|
NM_000782.5(CYP24A1):c.*987T>C
|
rs118099730
|
0.00024
|
NM_000782.5(CYP24A1):c.-135C>T
|
rs556468258
|
0.00024
|
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg)
|
rs147779149
|
0.00024
|
NM_004795.4(KL):c.2298C>G (p.Gly766=)
|
rs141751859
|
0.00024
|
NM_006580.4(CLDN16):c.*586G>T
|
rs560036875
|
0.00024
|
NM_000782.5(CYP24A1):c.*244C>T
|
rs546594298
|
0.00022
|
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile)
|
rs373243941
|
0.00022
|
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=)
|
rs151204685
|
0.00022
|
NM_006580.4(CLDN16):c.*1817T>C
|
rs764222909
|
0.00022
|
NM_020638.3(FGF23):c.*784C>T
|
rs553998728
|
0.00022
|
NM_000388.4(CASR):c.2237C>T (p.Ala746Val)
|
rs139417576
|
0.00021
|
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter)
|
rs137853086
|
0.00021
|
NM_004795.4(KL):c.387C>T (p.Tyr129=)
|
rs373385333
|
0.00021
|
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser)
|
rs201367228
|
0.00021
|
NM_000388.4(CASR):c.*87C>T
|
rs202045621
|
0.00020
|
NM_004795.4(KL):c.1788C>A (p.Ser596=)
|
rs141133607
|
0.00019
|
NM_004795.4(KL):c.967G>A (p.Val323Ile)
|
rs143344388
|
0.00019
|
NM_006580.4(CLDN16):c.114+13C>G
|
rs369250510
|
0.00019
|
NM_020638.3(FGF23):c.*1398T>A
|
rs531815578
|
0.00019
|
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly)
|
rs144925325
|
0.00019
|
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)
|
rs376131751
|
0.00018
|
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)
|
rs376829052
|
0.00018
|
NM_000388.4(CASR):c.*1193C>T
|
rs886057835
|
0.00017
|
NM_000388.4(CASR):c.*1197C>G
|
rs886057836
|
0.00017
|
NM_020638.3(FGF23):c.*998C>G
|
rs71583766
|
0.00017
|
NM_000388.4(CASR):c.*1169C>T
|
rs200652347
|
0.00016
|
NM_000388.4(CASR):c.27C>T (p.Val9=)
|
rs141880581
|
0.00016
|
NM_000388.4(CASR):c.573G>A (p.Glu191=)
|
rs141631116
|
0.00016
|
NM_000782.5(CYP24A1):c.-385G>A
|
rs746437890
|
0.00016
|
NM_004795.4(KL):c.*466A>T
|
rs770665581
|
0.00016
|
NM_006580.4(CLDN16):c.*1313G>A
|
rs565421878
|
0.00016
|
NM_006580.4(CLDN16):c.*541A>G
|
rs186108585
|
0.00016
|
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)
|
rs202179597
|
0.00015
|
NM_004482.4(GALNT3):c.504T>C (p.Thr168=)
|
rs183709224
|
0.00015
|
NM_006580.4(CLDN16):c.*299A>G
|
rs181803078
|
0.00015
|
NM_000388.4(CASR):c.1752G>A (p.Lys584=)
|
rs138638329
|
0.00014
|
NM_000388.4(CASR):c.546T>A (p.Ser182=)
|
rs200545177
|
0.00014
|
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro)
|
rs139763321
|
0.00014
|
NM_002067.5(GNA11):c.570C>T (p.Ile190=)
|
rs201668624
|
0.00014
|
NM_004795.4(KL):c.1764G>T (p.Met588Ile)
|
rs543489938
|
0.00014
|
NM_004795.4(KL):c.738C>T (p.His246=)
|
rs756551415
|
0.00014
|
NM_020638.3(FGF23):c.*1492T>C
|
rs986708682
|
0.00014
|
NM_000388.4(CASR):c.1287C>T (p.His429=)
|
rs746515147
|
0.00013
|
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro)
|
rs201728701
|
0.00013
|
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)
|
rs374121143
|
0.00013
|
NM_004482.4(GALNT3):c.-238C>T
|
rs886055016
|
0.00013
|
NM_004482.4(GALNT3):c.516-2A>T
|
rs761396172
|
0.00013
|
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu)
|
rs146978168
|
0.00013
|
NM_004795.4(KL):c.*1565T>C
|
rs886050127
|
0.00013
|
NM_000388.4(CASR):c.2388G>A (p.Lys796=)
|
rs200701164
|
0.00012
|
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser)
|
rs201328344
|
0.00012
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_002067.5(GNA11):c.501C>T (p.Ile167=)
|
rs756722832
|
0.00012
|
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=)
|
rs561557630
|
0.00012
|
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)
|
rs148575220
|
0.00012
|
NM_004795.4(KL):c.1105C>G (p.Leu369Val)
|
rs142695155
|
0.00012
|
NM_004795.4(KL):c.1882C>T (p.Arg628Cys)
|
rs200940225
|
0.00012
|
NM_004795.4(KL):c.911A>G (p.Asn304Ser)
|
rs745640577
|
0.00012
|
NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr)
|
rs549642537
|
0.00012
|
NM_020638.3(FGF23):c.*1803C>T
|
rs13312801
|
0.00012
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=)
|
rs377533549
|
0.00011
|
NM_002067.5(GNA11):c.476+13G>A
|
rs371755659
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_004482.4(GALNT3):c.1194A>G (p.Val398=)
|
rs150937941
|
0.00011
|
NM_004795.4(KL):c.1858C>T (p.Arg620Cys)
|
rs34292549
|
0.00011
|
NM_004795.4(KL):c.2502C>T (p.Thr834=)
|
rs147748913
|
0.00011
|
NM_004795.4(KL):c.2682C>T (p.Tyr894=)
|
rs144132270
|
0.00011
|
NM_004795.4(KL):c.450C>A (p.Ser150=)
|
rs764992732
|
0.00011
|
NM_004795.4(KL):c.476A>G (p.Asn159Ser)
|
rs200218010
|
0.00011
|
NM_004795.4(KL):c.511C>A (p.Arg171Ser)
|
rs200517420
|
0.00011
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)
|
rs200382161
|
0.00010
|
NM_000782.5(CYP24A1):c.-148T>C
|
rs866472510
|
0.00010
|
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)
|
rs768939354
|
0.00010
|
NM_006580.4(CLDN16):c.*1145A>G
|
rs1022246328
|
0.00010
|
NM_000388.4(CASR):c.-137C>T
|
rs201074178
|
0.00009
|
NM_000388.4(CASR):c.114T>C (p.Phe38=)
|
rs61733590
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000388.4(CASR):c.1788C>T (p.Thr596=)
|
rs142778221
|
0.00009
|
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr)
|
rs201449422
|
0.00009
|
NM_000388.4(CASR):c.2844G>A (p.Leu948=)
|
rs140586950
|
0.00009
|
NM_000782.5(CYP24A1):c.*454G>A
|
rs761330571
|
0.00009
|
NM_000782.5(CYP24A1):c.150C>T (p.Gly50=)
|
rs566481776
|
0.00009
|
NM_000782.5(CYP24A1):c.733-9T>C
|
rs895309596
|
0.00009
|
NM_002067.5(GNA11):c.240C>T (p.Tyr80=)
|
rs145033220
|
0.00009
|
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)
|
rs552176812
|
0.00009
|
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val)
|
rs141770901
|
0.00009
|
NM_004795.4(KL):c.*771C>T
|
rs886050123
|
0.00009
|
NM_004795.4(KL):c.2862G>A (p.Pro954=)
|
rs387907447
|
0.00009
|
NM_004795.4(KL):c.956C>T (p.Ser319Phe)
|
rs138955761
|
0.00009
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_000782.5(CYP24A1):c.*1122A>C
|
rs564857266
|
0.00008
|
NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=)
|
rs373504037
|
0.00008
|
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile)
|
rs770028088
|
0.00008
|
NM_002067.5(GNA11):c.889+14C>T
|
rs369371015
|
0.00008
|
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp)
|
rs146096892
|
0.00008
|
NM_003052.5(SLC34A1):c.937-2A>C
|
rs754825865
|
0.00008
|
NM_004795.4(KL):c.2259G>A (p.Leu753=)
|
rs200040161
|
0.00008
|
NM_000388.4(CASR):c.2356A>G (p.Ile786Val)
|
rs371882068
|
0.00007
|
NM_000388.4(CASR):c.2991C>T (p.Ser997=)
|
rs142305357
|
0.00007
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000388.4(CASR):c.825T>C (p.Asp275=)
|
rs199836910
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000782.5(CYP24A1):c.*525C>T
|
rs922871712
|
0.00007
|
NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe)
|
rs201820243
|
0.00007
|
NM_002067.5(GNA11):c.489C>T (p.Asp163=)
|
rs141926949
|
0.00007
|
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile)
|
rs374713815
|
0.00007
|
NM_004795.4(KL):c.*735G>A
|
rs527723516
|
0.00007
|
NM_004795.4(KL):c.2069C>T (p.Pro690Leu)
|
rs146275953
|
0.00007
|
NM_004795.4(KL):c.2251A>G (p.Arg751Gly)
|
rs373177691
|
0.00007
|
NM_004795.4(KL):c.747C>T (p.Ala249=)
|
rs563017227
|
0.00007
|
NM_006580.4(CLDN16):c.*965G>A
|
rs769075597
|
0.00007
|
NM_006580.4(CLDN16):c.192C>T (p.Tyr64=)
|
rs199651054
|
0.00007
|
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly)
|
rs190841442
|
0.00007
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000388.4(CASR):c.-111C>A
|
rs201098532
|
0.00006
|
NM_000388.4(CASR):c.1044C>A (p.Ala348=)
|
rs753606065
|
0.00006
|
NM_000388.4(CASR):c.1554A>G (p.Gly518=)
|
rs138099808
|
0.00006
|
NM_000388.4(CASR):c.1596G>T (p.Gly532=)
|
rs774666667
|
0.00006
|
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)
|
rs200318708
|
0.00006
|
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)
|
rs150979829
|
0.00006
|
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)
|
rs1060502848
|
0.00006
|
NM_000388.4(CASR):c.762T>C (p.His254=)
|
rs76438850
|
0.00006
|
NM_000782.5(CYP24A1):c.*1014C>T
|
rs886056781
|
0.00006
|
NM_000782.5(CYP24A1):c.*51G>A
|
rs552552032
|
0.00006
|
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met)
|
rs550482750
|
0.00006
|
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=)
|
rs147886742
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr)
|
rs748676671
|
0.00006
|
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg)
|
rs760244872
|
0.00006
|
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala)
|
rs140851407
|
0.00006
|
NM_002067.5(GNA11):c.605+10G>A
|
rs535105766
|
0.00006
|
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)
|
rs387907503
|
0.00006
|
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)
|
rs200188041
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_004482.4(GALNT3):c.*143G>A
|
rs771919992
|
0.00006
|
NM_004482.4(GALNT3):c.*318T>G
|
rs886055013
|
0.00006
|
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp)
|
rs756068998
|
0.00006
|
NM_004482.4(GALNT3):c.1524+5G>A
|
rs375879489
|
0.00006
|
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys)
|
rs539221514
|
0.00006
|
NM_004795.4(KL):c.*853T>C
|
rs1426785432
|
0.00006
|
NM_004795.4(KL):c.*8C>T
|
rs773877611
|
0.00006
|
NM_004795.4(KL):c.2557C>T (p.Arg853Cys)
|
rs147992424
|
0.00006
|
NM_006580.4(CLDN16):c.*2014T>C
|
rs945912441
|
0.00006
|
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser)
|
rs758725402
|
0.00006
|
NM_000388.4(CASR):c.*251G>C
|
rs904222689
|
0.00005
|
NM_000388.4(CASR):c.1638C>T (p.Cys546=)
|
rs143047343
|
0.00005
|
NM_000388.4(CASR):c.165G>A (p.Pro55=)
|
rs200018529
|
0.00005
|
NM_000388.4(CASR):c.2070C>G (p.Leu690=)
|
rs1015701331
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_002067.5(GNA11):c.287C>T (p.Thr96Met)
|
rs756991534
|
0.00005
|
NM_002067.5(GNA11):c.322-5C>T
|
rs773020890
|
0.00005
|
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)
|
rs137867155
|
0.00005
|
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr)
|
rs199847351
|
0.00005
|
NM_004795.4(KL):c.2904C>T (p.Thr968=)
|
rs762438505
|
0.00005
|
NM_020638.3(FGF23):c.*181T>C
|
rs886049409
|
0.00005
|
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys)
|
rs765478662
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000388.4(CASR):c.1378-20C>T
|
rs199644797
|
0.00004
|
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys)
|
rs372504955
|
0.00004
|
NM_000388.4(CASR):c.1549A>G (p.Lys517Glu)
|
rs768663095
|
0.00004
|
NM_000388.4(CASR):c.1732+11C>A
|
rs1032023222
|
0.00004
|
NM_000388.4(CASR):c.1733-13G>C
|
rs568934388
|
0.00004
|
NM_000388.4(CASR):c.1827G>A (p.Thr609=)
|
rs200868156
|
0.00004
|
NM_000388.4(CASR):c.186-19C>T
|
rs372080345
|
0.00004
|
NM_000388.4(CASR):c.1913G>A (p.Arg638His)
|
rs201852643
|
0.00004
|
NM_000388.4(CASR):c.1974G>T (p.Leu658=)
|
rs770178952
|
0.00004
|
NM_000388.4(CASR):c.2769A>G (p.Pro923=)
|
rs199508670
|
0.00004
|
NM_000388.4(CASR):c.2955C>T (p.Asn985=)
|
rs199884115
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)
|
rs775066593
|
0.00004
|
NM_000388.4(CASR):c.32T>C (p.Leu11Ser)
|
rs200673016
|
0.00004
|
NM_000388.4(CASR):c.453G>A (p.Thr151=)
|
rs201849172
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000388.4(CASR):c.705C>A (p.Ile235=)
|
rs199887150
|
0.00004
|
NM_000388.4(CASR):c.867G>A (p.Thr289=)
|
rs368612147
|
0.00004
|
NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=)
|
rs77764129
|
0.00004
|
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn)
|
rs140189382
|
0.00004
|
NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu)
|
rs552660376
|
0.00004
|
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)
|
rs387907324
|
0.00004
|
NM_002067.5(GNA11):c.889+4C>T
|
rs375701661
|
0.00004
|
NM_002067.5(GNA11):c.912G>A (p.Ala304=)
|
rs145170690
|
0.00004
|
NM_002067.5(GNA11):c.915G>A (p.Ala305=)
|
rs750757769
|
0.00004
|
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)
|
rs377213972
|
0.00004
|
NM_003052.5(SLC34A1):c.644+1G>A
|
rs201304511
|
0.00004
|
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)
|
rs146812061
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_004069.6(AP2S1):c.111C>T (p.Ala37=)
|
rs368988346
|
0.00004
|
NM_004069.6(AP2S1):c.153+5C>T
|
rs747850028
|
0.00004
|
NM_004069.6(AP2S1):c.387G>A (p.Thr129=)
|
rs762267195
|
0.00004
|
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His)
|
rs143396063
|
0.00004
|
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val)
|
rs146096050
|
0.00004
|
NM_004482.4(GALNT3):c.600G>A (p.Thr200=)
|
rs749981979
|
0.00004
|
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg)
|
rs1204063782
|
0.00004
|
NM_004795.4(KL):c.1860C>A (p.Arg620=)
|
rs995644762
|
0.00004
|
NM_004795.4(KL):c.2057C>T (p.Thr686Met)
|
rs141695559
|
0.00004
|
NM_004795.4(KL):c.2513G>C (p.Trp838Ser)
|
rs199812311
|
0.00004
|
NM_004795.4(KL):c.398T>A (p.Phe133Tyr)
|
rs749356037
|
0.00004
|
NM_004795.4(KL):c.560C>T (p.Pro187Leu)
|
rs761695698
|
0.00004
|
NM_006580.3(CLDN16):c.-5G>A
|
rs777259905
|
0.00004
|
NM_006580.3(CLDN16):c.-82A>G
|
rs886058243
|
0.00004
|
NM_006580.4(CLDN16):c.575-7C>T
|
rs757064470
|
0.00004
|
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)
|
rs201122403
|
0.00004
|
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)
|
rs200178876
|
0.00004
|
NM_020638.3(FGF23):c.*1049C>T
|
rs13312797
|
0.00004
|
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg)
|
rs749770315
|
0.00004
|
NM_000388.4(CASR):c.*103A>C
|
rs199899073
|
0.00003
|
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp)
|
rs760506005
|
0.00003
|
NM_000388.4(CASR):c.1143C>T (p.Gly381=)
|
rs374835228
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1326G>A (p.Gly442=)
|
rs1266818477
|
0.00003
|
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)
|
rs267599574
|
0.00003
|
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr)
|
rs761468327
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.1479C>T (p.Asn493=)
|
rs201076546
|
0.00003
|
NM_000388.4(CASR):c.1668G>A (p.Glu556=)
|
rs186279271
|
0.00003
|
NM_000388.4(CASR):c.1733-4A>G
|
rs911114845
|
0.00003
|
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu)
|
rs757736220
|
0.00003
|
NM_000388.4(CASR):c.2082C>T (p.Cys694=)
|
rs1389988414
|
0.00003
|
NM_000388.4(CASR):c.2104G>A (p.Val702Ile)
|
rs201828974
|
0.00003
|
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp)
|
rs201366240
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)
|
rs121909269
|
0.00003
|
NM_000388.4(CASR):c.2717C>T (p.Thr906Met)
|
rs200357435
|
0.00003
|
NM_000388.4(CASR):c.2919C>T (p.Val973=)
|
rs201569701
|
0.00003
|
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu)
|
rs1007139212
|
0.00003
|
NM_000388.4(CASR):c.3148T>C (p.Leu1050=)
|
rs1201397873
|
0.00003
|
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly)
|
rs185453682
|
0.00003
|
NM_000388.4(CASR):c.493-19T>G
|
rs201735609
|
0.00003
|
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)
|
rs762998933
|
0.00003
|
NM_000388.4(CASR):c.787A>G (p.Thr263Ala)
|
rs1161925579
|
0.00003
|
NM_000782.5(CYP24A1):c.*375A>G
|
rs886056785
|
0.00003
|
NM_000782.5(CYP24A1):c.-118T>C
|
rs886056792
|
0.00003
|
NM_000782.5(CYP24A1):c.-37C>A
|
rs549112129
|
0.00003
|
NM_000782.5(CYP24A1):c.-50C>T
|
rs886056791
|
0.00003
|
NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=)
|
rs764982769
|
0.00003
|
NM_000782.5(CYP24A1):c.1353G>A (p.Ala451=)
|
rs775504814
|
0.00003
|
NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=)
|
rs73135773
|
0.00003
|
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=)
|
rs774042537
|
0.00003
|
NM_002067.5(GNA11):c.462C>T (p.Ser154=)
|
rs200449144
|
0.00003
|
NM_002067.5(GNA11):c.889+7C>T
|
rs201814380
|
0.00003
|
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)
|
rs201331677
|
0.00003
|
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)
|
rs767269039
|
0.00003
|
NM_004482.4(GALNT3):c.*27G>T
|
rs775247455
|
0.00003
|
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys)
|
rs764730691
|
0.00003
|
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn)
|
rs377389049
|
0.00003
|
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)
|
rs137853090
|
0.00003
|
NM_004795.4(KL):c.1005T>C (p.Gly335=)
|
rs749183356
|
0.00003
|
NM_004795.4(KL):c.292C>T (p.Leu98=)
|
rs762177521
|
0.00003
|
NM_004795.4(KL):c.2995C>A (p.Leu999Ile)
|
rs200295310
|
0.00003
|
NM_006580.4(CLDN16):c.*1170G>A
|
rs886058250
|
0.00003
|
NM_006580.4(CLDN16):c.*1559C>A
|
rs886058253
|
0.00003
|
NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala)
|
rs139251569
|
0.00003
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_020638.3(FGF23):c.*1292C>T
|
rs897877189
|
0.00003
|
NM_020638.3(FGF23):c.*1352T>C
|
rs886049398
|
0.00003
|
NM_020638.3(FGF23):c.*182G>A
|
rs563817819
|
0.00003
|
NM_020638.3(FGF23):c.*856C>G
|
rs886049399
|
0.00003
|
NM_020638.3(FGF23):c.-23C>T
|
rs769953313
|
0.00003
|
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe)
|
rs376694108
|
0.00003
|
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn)
|
rs200196962
|
0.00002
|
NM_000388.4(CASR):c.1099C>T (p.Pro367Ser)
|
rs534100808
|
0.00002
|
NM_000388.4(CASR):c.1235C>T (p.Thr412Met)
|
rs1473520699
|
0.00002
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
NM_000388.4(CASR):c.1377G>A (p.Gln459=)
|
rs375297380
|
0.00002
|
NM_000388.4(CASR):c.1456G>T (p.Val486Leu)
|
rs201829972
|
0.00002
|
NM_000388.4(CASR):c.1732+17T>G
|
rs201033132
|
0.00002
|
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp)
|
rs147376568
|
0.00002
|
NM_000388.4(CASR):c.1842C>T (p.Ile614=)
|
rs199513106
|
0.00002
|
NM_000388.4(CASR):c.1860C>T (p.Ala620=)
|
rs141522130
|
0.00002
|
NM_000388.4(CASR):c.1914C>T (p.Arg638=)
|
rs758587851
|
0.00002
|
NM_000388.4(CASR):c.1959C>T (p.Leu653=)
|
rs545549211
|
0.00002
|
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys)
|
rs757302986
|
0.00002
|
NM_000388.4(CASR):c.2145C>T (p.His715=)
|
rs201242061
|
0.00002
|
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)
|
rs942603230
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2211C>A (p.Val737=)
|
rs371784919
|
0.00002
|
NM_000388.4(CASR):c.2298C>T (p.His766=)
|
rs200723499
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)
|
rs763865303
|
0.00002
|
NM_000388.4(CASR):c.2669G>A (p.Arg890His)
|
rs567996888
|
0.00002
|
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
|
rs773552397
|
0.00002
|
NM_000388.4(CASR):c.2761G>A (p.Glu921Lys)
|
rs755629322
|
0.00002
|
NM_000388.4(CASR):c.276G>A (p.Thr92=)
|
rs201013419
|
0.00002
|
NM_000388.4(CASR):c.2802G>A (p.Gln934=)
|
rs201771940
|
0.00002
|
NM_000388.4(CASR):c.2820G>A (p.Gln940=)
|
rs573406193
|
0.00002
|
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile)
|
rs774943243
|
0.00002
|
NM_000388.4(CASR):c.2928A>T (p.Ser976=)
|
rs772563184
|
0.00002
|
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)
|
rs193921082
|
0.00002
|
NM_000388.4(CASR):c.3168G>T (p.Val1056=)
|
rs886057831
|
0.00002
|
NM_000388.4(CASR):c.445G>A (p.Val149Ile)
|
rs749288251
|
0.00002
|
NM_000388.4(CASR):c.57C>T (p.Ala19=)
|
rs761576251
|
0.00002
|
NM_000388.4(CASR):c.613C>T (p.Arg205Cys)
|
rs775751453
|
0.00002
|
NM_000388.4(CASR):c.675A>G (p.Lys225=)
|
rs202226622
|
0.00002
|
NM_000388.4(CASR):c.712G>A (p.Asp238Asn)
|
rs373376842
|
0.00002
|
NM_000388.4(CASR):c.845A>G (p.Glu282Gly)
|
rs751540983
|
0.00002
|
NM_000388.4(CASR):c.873G>C (p.Lys291Asn)
|
rs748306088
|
0.00002
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
NM_000388.4(CASR):c.930C>T (p.Tyr310=)
|
rs201737357
|
0.00002
|
NM_000782.5(CYP24A1):c.*1288A>G
|
rs543296744
|
0.00002
|
NM_000782.5(CYP24A1):c.*317T>C
|
rs181138149
|
0.00002
|
NM_000782.5(CYP24A1):c.1310C>A (p.Pro437His)
|
rs753140812
|
0.00002
|
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)
|
rs988715134
|
0.00002
|
NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala)
|
rs200891772
|
0.00002
|
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)
|
rs781367354
|
0.00002
|
NM_002067.5(GNA11):c.592A>C (p.Asn198His)
|
rs768371546
|
0.00002
|
NM_002067.5(GNA11):c.605+5C>T
|
rs759838121
|
0.00002
|
NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter)
|
rs753244775
|
0.00002
|
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu)
|
rs548844573
|
0.00002
|
NM_004482.3(GALNT3):c.-358C>T
|
rs886055018
|
0.00002
|
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln)
|
rs111875321
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_004795.4(KL):c.1780C>T (p.Arg594Cys)
|
rs138511256
|
0.00002
|
NM_004795.4(KL):c.2572T>A (p.Trp858Arg)
|
rs757603569
|
0.00002
|
NM_004795.4(KL):c.2811C>T (p.Pro937=)
|
rs751273061
|
0.00002
|
NM_004795.4(KL):c.442C>T (p.Arg148Cys)
|
rs868310562
|
0.00002
|
NM_004795.4(KL):c.497A>G (p.Asn166Ser)
|
rs387907444
|
0.00002
|
NM_004795.4(KL):c.944A>G (p.Glu315Gly)
|
rs759972130
|
0.00002
|
NM_006580.4(CLDN16):c.217+5G>A
|
rs751959432
|
0.00002
|
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val)
|
rs145118503
|
0.00002
|
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)
|
rs104893729
|
0.00002
|
NM_006580.4(CLDN16):c.99T>C (p.Ala33=)
|
rs201545856
|
0.00002
|
NM_020638.3(FGF23):c.*944G>A
|
rs561820380
|
0.00002
|
NM_020638.3(FGF23):c.249G>A (p.Val83=)
|
rs753676774
|
0.00002
|
NM_020638.3(FGF23):c.46G>A (p.Val16Ile)
|
rs760118094
|
0.00002
|
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)
|
rs145591298
|
0.00002
|
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser)
|
rs896545456
|
0.00001
|
NM_000388.4(CASR):c.*1298A>G
|
rs1470056406
|
0.00001
|
NM_000388.4(CASR):c.*625G>A
|
rs886057833
|
0.00001
|
NM_000388.4(CASR):c.-10C>T
|
rs753659949
|
0.00001
|
NM_000388.4(CASR):c.1011C>G (p.Val337=)
|
rs201820733
|
0.00001
|
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys)
|
rs768228172
|
0.00001
|
NM_000388.4(CASR):c.1027G>A (p.Val343Ile)
|
rs767003690
|
0.00001
|
NM_000388.4(CASR):c.1028T>C (p.Val343Ala)
|
rs750427763
|
0.00001
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
NM_000388.4(CASR):c.1075C>T (p.His359Tyr)
|
rs1559959592
|
0.00001
|
NM_000388.4(CASR):c.108G>A (p.Gly36=)
|
rs781573002
|
0.00001
|
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)
|
rs200771541
|
0.00001
|
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr)
|
rs1217895146
|
0.00001
|
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn)
|
rs768952710
|
0.00001
|
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys)
|
rs760190284
|
0.00001
|
NM_000388.4(CASR):c.1131C>T (p.His377=)
|
rs766231362
|
0.00001
|
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
|
rs145869851
|
0.00001
|
NM_000388.4(CASR):c.1146C>G (p.Asp382Glu)
|
rs1386553525
|
0.00001
|
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)
|
rs148573275
|
0.00001
|
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)
|
rs377282860
|
0.00001
|
NM_000388.4(CASR):c.1173C>T (p.Phe391=)
|
rs998012311
|
0.00001
|
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln)
|
rs1287075426
|
0.00001
|
NM_000388.4(CASR):c.1179C>G (p.Pro393=)
|
rs1553766873
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000388.4(CASR):c.118A>G (p.Ile40Val)
|
rs1458833527
|
0.00001
|
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)
|
rs202101164
|
0.00001
|
NM_000388.4(CASR):c.1213G>A (p.Glu405Lys)
|
rs868784672
|
0.00001
|
NM_000388.4(CASR):c.123T>C (p.His41=)
|
rs1331565057
|
0.00001
|
NM_000388.4(CASR):c.1281T>C (p.Ile427=)
|
rs771741512
|
0.00001
|
NM_000388.4(CASR):c.1283C>T (p.Ala428Val)
|
rs895543540
|
0.00001
|
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser)
|
rs201520875
|
0.00001
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
NM_000388.4(CASR):c.1320G>A (p.Gly440=)
|
rs200243816
|
0.00001
|
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys)
|
rs1230573005
|
0.00001
|
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn)
|
rs1471887387
|
0.00001
|
NM_000388.4(CASR):c.1338T>C (p.Asn446=)
|
rs762799076
|
0.00001
|
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp)
|
rs141315218
|
0.00001
|
NM_000388.4(CASR):c.1371G>A (p.Ala457=)
|
rs766477389
|
0.00001
|
NM_000388.4(CASR):c.1377+14T>C
|
rs1272240293
|
0.00001
|
NM_000388.4(CASR):c.1377+15T>G
|
rs1343974175
|
0.00001
|
NM_000388.4(CASR):c.1377+5G>T
|
rs2074639584
|
0.00001
|
NM_000388.4(CASR):c.1378-6C>T
|
rs765745520
|
0.00001
|
NM_000388.4(CASR):c.1378G>A (p.Val460Ile)
|
rs753189535
|
0.00001
|
NM_000388.4(CASR):c.1389C>A (p.His463Gln)
|
rs201572629
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.1407T>G (p.Phe469Leu)
|
rs1468055232
|
0.00001
|
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile)
|
rs145042469
|
0.00001
|
NM_000388.4(CASR):c.1423G>A (p.Glu475Lys)
|
rs1406184611
|
0.00001
|
NM_000388.4(CASR):c.1428G>A (p.Gln476=)
|
rs1457255751
|
0.00001
|
NM_000388.4(CASR):c.1431G>C (p.Val477=)
|
rs1160830428
|
0.00001
|
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser)
|
rs774174934
|
0.00001
|
NM_000388.4(CASR):c.1449T>G (p.Gly483=)
|
rs771186654
|
0.00001
|
NM_000388.4(CASR):c.1452C>T (p.Asp484=)
|
rs776775141
|
0.00001
|
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu)
|
rs1206946808
|
0.00001
|
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe)
|
rs202112921
|
0.00001
|
NM_000388.4(CASR):c.1476C>T (p.Ile492=)
|
rs1576870344
|
0.00001
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
NM_000388.4(CASR):c.151C>T (p.Leu51Phe)
|
rs996249687
|
0.00001
|
NM_000388.4(CASR):c.1524C>T (p.Val508=)
|
rs868821997
|
0.00001
|
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)
|
rs193922423
|
0.00001
|
NM_000388.4(CASR):c.1545C>G (p.Ala515=)
|
rs1158039366
|
0.00001
|
NM_000388.4(CASR):c.1548G>A (p.Lys516=)
|
rs1454679281
|
0.00001
|
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu)
|
rs377233360
|
0.00001
|
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys)
|
rs776534485
|
0.00001
|
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys)
|
rs199688157
|
0.00001
|
NM_000388.4(CASR):c.1587G>A (p.Leu529=)
|
rs762899043
|
0.00001
|
NM_000388.4(CASR):c.1608+3A>G
|
rs2074815932
|
0.00001
|
NM_000388.4(CASR):c.1609-27C>T
|
rs4678175
|
0.00001
|
NM_000388.4(CASR):c.1609-6C>G
|
rs1423240738
|
0.00001
|
NM_000388.4(CASR):c.1609G>A (p.Val537Met)
|
rs1250951106
|
0.00001
|
NM_000388.4(CASR):c.1611G>A (p.Val537=)
|
rs1576875688
|
0.00001
|
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)
|
rs886041637
|
0.00001
|
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)
|
rs1358793834
|
0.00001
|
NM_000388.4(CASR):c.172G>C (p.Val58Leu)
|
rs1161795745
|
0.00001
|
NM_000388.4(CASR):c.1732+10C>A
|
rs201859314
|
0.00001
|
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp)
|
rs2074921447
|
0.00001
|
NM_000388.4(CASR):c.177A>G (p.Glu59=)
|
rs200756928
|
0.00001
|
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile)
|
rs1348036340
|
0.00001
|
NM_000388.4(CASR):c.1806G>A (p.Glu602=)
|
rs779467828
|
0.00001
|
NM_000388.4(CASR):c.1809C>A (p.Ile603=)
|
rs1332311514
|
0.00001
|
NM_000388.4(CASR):c.1821G>A (p.Ser607=)
|
rs139515396
|
0.00001
|
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala)
|
rs199761731
|
0.00001
|
NM_000388.4(CASR):c.1826C>T (p.Thr609Met)
|
rs759904153
|
0.00001
|
NM_000388.4(CASR):c.1839G>A (p.Gly613=)
|
rs1173372329
|
0.00001
|
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe)
|
rs201564925
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.185+10G>A
|
rs201869423
|
0.00001
|
NM_000388.4(CASR):c.185+4A>G
|
rs1576852377
|
0.00001
|
NM_000388.4(CASR):c.185+5G>C
|
rs554770681
|
0.00001
|
NM_000388.4(CASR):c.186-14C>A
|
rs201342859
|
0.00001
|
NM_000388.4(CASR):c.1861G>A (p.Val621Met)
|
rs751538967
|
0.00001
|
NM_000388.4(CASR):c.1884C>A (p.Ala628=)
|
rs767444434
|
0.00001
|
NM_000388.4(CASR):c.1887T>C (p.Phe629=)
|
rs750220557
|
0.00001
|
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln)
|
rs779019180
|
0.00001
|
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)
|
rs1185593894
|
0.00001
|
NM_000388.4(CASR):c.1923C>T (p.Pro641=)
|
rs368093724
|
0.00001
|
NM_000388.4(CASR):c.1924A>G (p.Ile642Val)
|
rs894717560
|
0.00001
|
NM_000388.4(CASR):c.1962C>A (p.Leu654=)
|
rs746231094
|
0.00001
|
NM_000388.4(CASR):c.2012A>T (p.Glu671Val)
|
rs199957040
|
0.00001
|
NM_000388.4(CASR):c.2016C>G (p.Pro672=)
|
rs748910237
|
0.00001
|
NM_000388.4(CASR):c.201G>A (p.Gly67=)
|
rs1203051815
|
0.00001
|
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)
|
rs768204447
|
0.00001
|
NM_000388.4(CASR):c.2028G>A (p.Thr676=)
|
rs563112343
|
0.00001
|
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys)
|
rs1196241183
|
0.00001
|
NM_000388.4(CASR):c.2034C>T (p.Arg678=)
|
rs202119951
|
0.00001
|
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)
|
rs767363250
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.2046G>A (p.Pro682=)
|
rs760450976
|
0.00001
|
NM_000388.4(CASR):c.2048C>T (p.Ala683Val)
|
rs1449068520
|
0.00001
|
NM_000388.4(CASR):c.204T>C (p.Phe68=)
|
rs746711010
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2102G>A (p.Arg701His)
|
rs1284532044
|
0.00001
|
NM_000388.4(CASR):c.2106C>T (p.Val702=)
|
rs1353730603
|
0.00001
|
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala)
|
rs1060502844
|
0.00001
|
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn)
|
rs746383651
|
0.00001
|
NM_000388.4(CASR):c.2139C>T (p.Ser713=)
|
rs200384325
|
0.00001
|
NM_000388.4(CASR):c.2142C>T (p.Phe714=)
|
rs780374949
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2151G>A (p.Lys717=)
|
rs747627445
|
0.00001
|
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys)
|
rs771601139
|
0.00001
|
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)
|
rs375468610
|
0.00001
|
NM_000388.4(CASR):c.2230T>C (p.Tyr744His)
|
rs1328499732
|
0.00001
|
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr)
|
rs562364178
|
0.00001
|
NM_000388.4(CASR):c.2239C>T (p.Pro747Ser)
|
rs1576877692
|
0.00001
|
NM_000388.4(CASR):c.2255G>A (p.Arg752His)
|
rs771529256
|
0.00001
|
NM_000388.4(CASR):c.2258A>G (p.Asn753Ser)
|
rs2074934867
|
0.00001
|
NM_000388.4(CASR):c.2295C>T (p.Cys765=)
|
rs1232096655
|
0.00001
|
NM_000388.4(CASR):c.2301G>A (p.Glu767=)
|
rs769706960
|
0.00001
|
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr)
|
rs199508583
|
0.00001
|
NM_000388.4(CASR):c.2317C>T (p.Leu773=)
|
rs1244281080
|
0.00001
|
NM_000388.4(CASR):c.2328G>A (p.Leu776=)
|
rs750548257
|
0.00001
|
NM_000388.4(CASR):c.232A>G (p.Ile78Val)
|
rs769294626
|
0.00001
|
NM_000388.4(CASR):c.2331C>T (p.Ile777=)
|
rs760608351
|
0.00001
|
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser)
|
rs1479933693
|
0.00001
|
NM_000388.4(CASR):c.2334C>T (p.Gly778=)
|
rs1174997420
|
0.00001
|
NM_000388.4(CASR):c.2355C>T (p.Ala785=)
|
rs1472693542
|
0.00001
|
NM_000388.4(CASR):c.2376C>T (p.Phe792=)
|
rs2074937389
|
0.00001
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser)
|
rs777219967
|
0.00001
|
NM_000388.4(CASR):c.242T>C (p.Ile81Thr)
|
rs2074562857
|
0.00001
|
NM_000388.4(CASR):c.2437A>G (p.Ile813Val)
|
rs746541034
|
0.00001
|
NM_000388.4(CASR):c.2442C>T (p.Phe814=)
|
rs200151175
|
0.00001
|
NM_000388.4(CASR):c.2448C>T (p.Ile816=)
|
rs781343891
|
0.00001
|
NM_000388.4(CASR):c.2499C>T (p.Val833=)
|
rs1240932110
|
0.00001
|
NM_000388.4(CASR):c.249C>G (p.Ser83Arg)
|
rs1262032476
|
0.00001
|
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr)
|
rs1418475623
|
0.00001
|
NM_000388.4(CASR):c.2550G>A (p.Ala850=)
|
rs867061333
|
0.00001
|
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)
|
rs200777304
|
0.00001
|
NM_000388.4(CASR):c.2563A>C (p.Asn855His)
|
rs2074940790
|
0.00001
|
NM_000388.4(CASR):c.256G>T (p.Ala86Ser)
|
rs1275539972
|
0.00001
|
NM_000388.4(CASR):c.2571C>T (p.Ile857=)
|
rs1367231182
|
0.00001
|
NM_000388.4(CASR):c.2597G>A (p.Arg866His)
|
rs387907401
|
0.00001
|
NM_000388.4(CASR):c.2607C>T (p.Ile869=)
|
rs1258806535
|
0.00001
|
NM_000388.4(CASR):c.2613G>A (p.Glu871=)
|
rs1553769147
|
0.00001
|
NM_000388.4(CASR):c.2635C>G (p.His879Asp)
|
rs1553769153
|
0.00001
|
NM_000388.4(CASR):c.2637C>T (p.His879=)
|
rs1576878230
|
0.00001
|
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr)
|
rs763865303
|
0.00001
|
NM_000388.4(CASR):c.2656C>A (p.Arg886=)
|
rs1559969429
|
0.00001
|
NM_000388.4(CASR):c.2668C>T (p.Arg890Cys)
|
rs548127959
|
0.00001
|
NM_000388.4(CASR):c.2672G>A (p.Arg891His)
|
rs533567836
|
0.00001
|
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)
|
rs1392921552
|
0.00001
|
NM_000388.4(CASR):c.2679C>T (p.Asn893=)
|
rs756152178
|
0.00001
|
NM_000388.4(CASR):c.2680G>A (p.Val894Ile)
|
rs200883282
|
0.00001
|
NM_000388.4(CASR):c.2680G>T (p.Val894Phe)
|
rs200883282
|
0.00001
|
NM_000388.4(CASR):c.2686C>G (p.Arg896Gly)
|
rs749125441
|
0.00001
|
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu)
|
rs121909269
|
0.00001
|
NM_000388.4(CASR):c.2695T>C (p.Ser899Pro)
|
rs201919386
|
0.00001
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
NM_000388.4(CASR):c.2718G>A (p.Thr906=)
|
rs1403590168
|
0.00001
|
NM_000388.4(CASR):c.2727C>T (p.Thr909=)
|
rs1259364724
|
0.00001
|
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe)
|
rs1366210816
|
0.00001
|
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe)
|
rs751273631
|
0.00001
|
NM_000388.4(CASR):c.275C>T (p.Thr92Met)
|
rs764023058
|
0.00001
|
NM_000388.4(CASR):c.2760C>G (p.Ser920Arg)
|
rs749958063
|
0.00001
|
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)
|
rs201517907
|
0.00001
|
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln)
|
rs746005172
|
0.00001
|
NM_000388.4(CASR):c.2806C>T (p.Leu936=)
|
rs1396995630
|
0.00001
|
NM_000388.4(CASR):c.2807T>A (p.Leu936Gln)
|
rs1379368670
|
0.00001
|
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)
|
rs1293909274
|
0.00001
|
NM_000388.4(CASR):c.2829G>A (p.Gln943=)
|
rs764614440
|
0.00001
|
NM_000388.4(CASR):c.2838G>A (p.Gln946=)
|
rs774889993
|
0.00001
|
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro)
|
rs750090767
|
0.00001
|
NM_000388.4(CASR):c.2849T>C (p.Leu950Pro)
|
rs753866409
|
0.00001
|
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr)
|
rs4987051
|
0.00001
|
NM_000388.4(CASR):c.2857C>G (p.Gln953Glu)
|
rs542434118
|
0.00001
|
NM_000388.4(CASR):c.2871G>C (p.Gln957His)
|
rs988523065
|
0.00001
|
NM_000388.4(CASR):c.2884T>C (p.Cys962Arg)
|
rs758172766
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.2916G>A (p.Thr972=)
|
rs769047966
|
0.00001
|
NM_000388.4(CASR):c.2934C>T (p.Ser978=)
|
rs773041784
|
0.00001
|
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn)
|
rs1268294939
|
0.00001
|
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly)
|
rs766653315
|
0.00001
|
NM_000388.4(CASR):c.2964C>G (p.Ala988=)
|
rs202014330
|
0.00001
|
NM_000388.4(CASR):c.2978C>T (p.Thr993Met)
|
rs758227966
|
0.00001
|
NM_000388.4(CASR):c.2994G>A (p.Leu998=)
|
rs200260696
|
0.00001
|
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn)
|
rs1436155766
|
0.00001
|
NM_000388.4(CASR):c.3012C>T (p.Ser1004=)
|
rs1249991104
|
0.00001
|
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala)
|
rs1381478610
|
0.00001
|
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)
|
rs748637478
|
0.00001
|
NM_000388.4(CASR):c.3024C>T (p.Thr1008=)
|
rs773737550
|
0.00001
|
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln)
|
rs761030318
|
0.00001
|
NM_000388.4(CASR):c.3045G>A (p.Pro1015=)
|
rs533848602
|
0.00001
|
NM_000388.4(CASR):c.3054C>T (p.Cys1018=)
|
rs371038712
|
0.00001
|
NM_000388.4(CASR):c.3073C>T (p.Leu1025=)
|
rs747388218
|
0.00001
|
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile)
|
rs776184769
|
0.00001
|
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp)
|
rs201739901
|
0.00001
|
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser)
|
rs762383457
|
0.00001
|
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg)
|
rs764032437
|
0.00001
|
NM_000388.4(CASR):c.3129G>A (p.Glu1043=)
|
rs374529579
|
0.00001
|
NM_000388.4(CASR):c.3132G>A (p.Val1044=)
|
rs755277801
|
0.00001
|
NM_000388.4(CASR):c.3156A>C (p.Pro1052=)
|
rs199497544
|
0.00001
|
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)
|
rs769439564
|
0.00001
|
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser)
|
rs557676527
|
0.00001
|
NM_000388.4(CASR):c.3210T>A (p.Thr1070=)
|
rs1260226810
|
0.00001
|
NM_000388.4(CASR):c.3216A>G (p.Thr1072=)
|
rs1259584809
|
0.00001
|
NM_000388.4(CASR):c.333C>T (p.Thr111=)
|
rs758877487
|
0.00001
|
NM_000388.4(CASR):c.363T>A (p.Asp121Glu)
|
rs201923228
|
0.00001
|
NM_000388.4(CASR):c.375T>G (p.Leu125=)
|
rs780725247
|
0.00001
|
NM_000388.4(CASR):c.399G>A (p.Glu133=)
|
rs2074565559
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
NM_000388.4(CASR):c.444C>T (p.Gly148=)
|
rs1189990883
|
0.00001
|
NM_000388.4(CASR):c.455C>T (p.Ala152Val)
|
rs761519187
|
0.00001
|
NM_000388.4(CASR):c.466C>T (p.Leu156=)
|
rs1289582344
|
0.00001
|
NM_000388.4(CASR):c.492+5T>A
|
rs200277155
|
0.00001
|
NM_000388.4(CASR):c.492+6C>A
|
rs765346357
|
0.00001
|
NM_000388.4(CASR):c.492+9G>A
|
rs2074567187
|
0.00001
|
NM_000388.4(CASR):c.492+9del
|
rs762880287
|
0.00001
|
NM_000388.4(CASR):c.493-11G>C
|
rs200769140
|
0.00001
|
NM_000388.4(CASR):c.512G>C (p.Ser171Thr)
|
rs1220477298
|
0.00001
|
NM_000388.4(CASR):c.514A>C (p.Arg172=)
|
rs201851934
|
0.00001
|
NM_000388.4(CASR):c.51C>T (p.Thr17=)
|
rs1483411909
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000388.4(CASR):c.53C>T (p.Ser18Phe)
|
rs749748004
|
0.00001
|
NM_000388.4(CASR):c.548T>C (p.Phe183Ser)
|
rs1064794824
|
0.00001
|
NM_000388.4(CASR):c.553C>A (p.Arg185=)
|
rs104893707
|
0.00001
|
NM_000388.4(CASR):c.572A>G (p.Glu191Gly)
|
rs772067555
|
0.00001
|
NM_000388.4(CASR):c.579G>A (p.Gln193=)
|
rs933291696
|
0.00001
|
NM_000388.4(CASR):c.614G>A (p.Arg205His)
|
rs763162046
|
0.00001
|
NM_000388.4(CASR):c.627G>A (p.Val209=)
|
rs1335382846
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.656G>A (p.Gly219Glu)
|
rs1237913277
|
0.00001
|
NM_000388.4(CASR):c.657G>A (p.Gly219=)
|
rs768101011
|
0.00001
|
NM_000388.4(CASR):c.663G>A (p.Pro221=)
|
rs750830429
|
0.00001
|
NM_000388.4(CASR):c.681A>G (p.Arg227=)
|
rs766844902
|
0.00001
|
NM_000388.4(CASR):c.693G>A (p.Glu231=)
|
rs1348427911
|
0.00001
|
NM_000388.4(CASR):c.732C>T (p.Ser244=)
|
rs1366676707
|
0.00001
|
NM_000388.4(CASR):c.735G>A (p.Gln245=)
|
rs1362875083
|
0.00001
|
NM_000388.4(CASR):c.738C>T (p.Tyr246=)
|
rs895337411
|
0.00001
|
NM_000388.4(CASR):c.752A>G (p.Glu251Gly)
|
rs140418347
|
0.00001
|
NM_000388.4(CASR):c.759G>A (p.Gln253=)
|
rs2074626789
|
0.00001
|
NM_000388.4(CASR):c.780A>G (p.Gln260=)
|
rs1060504734
|
0.00001
|
NM_000388.4(CASR):c.813C>A (p.Ser271=)
|
rs759939185
|
0.00001
|
NM_000388.4(CASR):c.828T>C (p.Leu276=)
|
rs767726621
|
0.00001
|
NM_000388.4(CASR):c.844G>A (p.Glu282Lys)
|
rs1269873145
|
0.00001
|
NM_000388.4(CASR):c.846G>C (p.Glu282Asp)
|
rs199729084
|
0.00001
|
NM_000388.4(CASR):c.852C>A (p.Val284=)
|
rs1489604903
|
0.00001
|
NM_000388.4(CASR):c.857G>A (p.Arg286His)
|
rs922511747
|
0.00001
|
NM_000388.4(CASR):c.866C>T (p.Thr289Met)
|
rs755840531
|
0.00001
|
NM_000388.4(CASR):c.882G>A (p.Leu294=)
|
rs371941718
|
0.00001
|
NM_000388.4(CASR):c.921G>A (p.Met307Ile)
|
rs751095642
|
0.00001
|
NM_000388.4(CASR):c.937G>A (p.Val313Met)
|
rs200838528
|
0.00001
|
NM_000388.4(CASR):c.939G>A (p.Val313=)
|
rs750302987
|
0.00001
|
NM_000388.4(CASR):c.945C>T (p.Gly315=)
|
rs1053891124
|
0.00001
|
NM_000388.4(CASR):c.946G>A (p.Gly316Ser)
|
rs755997016
|
0.00001
|
NM_000388.4(CASR):c.960C>T (p.Phe320=)
|
rs753011255
|
0.00001
|
NM_000388.4(CASR):c.96T>C (p.Ile32=)
|
rs144604474
|
0.00001
|
NM_000388.4(CASR):c.970G>A (p.Ala324Thr)
|
rs758569521
|
0.00001
|
NM_000388.4(CASR):c.974G>A (p.Gly325Glu)
|
rs193922444
|
0.00001
|
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)
|
rs758232331
|
0.00001
|
NM_000782.5(CYP24A1):c.*1095C>G
|
rs886056780
|
0.00001
|
NM_000782.5(CYP24A1):c.*217A>G
|
rs922900713
|
0.00001
|
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)
|
rs777947329
|
0.00001
|
NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu)
|
rs189801930
|
0.00001
|
NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr)
|
rs1475780594
|
0.00001
|
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=)
|
rs761949738
|
0.00001
|
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser)
|
rs776627911
|
0.00001
|
NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser)
|
rs148084028
|
0.00001
|
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile)
|
rs377696502
|
0.00001
|
NM_000782.5(CYP24A1):c.732+7A>T
|
rs532499456
|
0.00001
|
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro)
|
rs373902459
|
0.00001
|
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser)
|
rs1413437455
|
0.00001
|
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe)
|
rs1238041646
|
0.00001
|
NM_000782.5(CYP24A1):c.990+3A>G
|
rs762830804
|
0.00001
|
NM_002067.5(GNA11):c.138C>T (p.Gly46=)
|
rs776843648
|
0.00001
|
NM_002067.5(GNA11):c.161C>T (p.Thr54Met)
|
rs1335558363
|
0.00001
|
NM_002067.5(GNA11):c.477-12G>A
|
rs766787225
|
0.00001
|
NM_002067.5(GNA11):c.606-6T>C
|
rs371052478
|
0.00001
|
NM_002067.5(GNA11):c.805G>A (p.Val269Ile)
|
rs144829732
|
0.00001
|
NM_002067.5(GNA11):c.987G>A (p.Thr329=)
|
rs375856122
|
0.00001
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00001
|
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His)
|
rs750711955
|
0.00001
|
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)
|
rs184668287
|
0.00001
|
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys)
|
rs756685605
|
0.00001
|
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile)
|
rs758639329
|
0.00001
|
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)
|
rs142772770
|
0.00001
|
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=)
|
rs753903046
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met)
|
rs778803636
|
0.00001
|
NM_004482.4(GALNT3):c.*28G>T
|
rs1688303362
|
0.00001
|
NM_004482.4(GALNT3):c.*319A>C
|
rs886055012
|
0.00001
|
NM_004482.4(GALNT3):c.-227C>T
|
rs886055015
|
0.00001
|
NM_004482.4(GALNT3):c.-309G>A
|
rs886055017
|
0.00001
|
NM_004482.4(GALNT3):c.-73C>T
|
rs971726102
|
0.00001
|
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly)
|
rs780631238
|
0.00001
|
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu)
|
rs779573886
|
0.00001
|
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter)
|
rs137853087
|
0.00001
|
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys)
|
rs371697905
|
0.00001
|
NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter)
|
rs775341386
|
0.00001
|
NM_004482.4(GALNT3):c.803dup (p.Thr269fs)
|
rs766750282
|
0.00001
|
NM_004482.4(GALNT3):c.838+10T>C
|
rs201497875
|
0.00001
|
NM_004482.4(GALNT3):c.918T>C (p.Ile306=)
|
rs753659298
|
0.00001
|
NM_004795.4(KL):c.*1486T>C
|
rs1872386469
|
0.00001
|
NM_004795.4(KL):c.*1728A>G
|
rs556620337
|
0.00001
|
NM_004795.4(KL):c.*174A>G
|
rs886050121
|
0.00001
|
NM_004795.4(KL):c.*1750T>C
|
rs886050129
|
0.00001
|
NM_004795.4(KL):c.*17A>G
|
rs1308258377
|
0.00001
|
NM_004795.4(KL):c.*587G>C
|
rs532213166
|
0.00001
|
NM_004795.4(KL):c.1331-3C>A
|
rs748430461
|
0.00001
|
NM_004795.4(KL):c.1331-4G>A
|
rs779243484
|
0.00001
|
NM_004795.4(KL):c.1374G>C (p.Trp458Cys)
|
rs762838530
|
0.00001
|
NM_004795.4(KL):c.1557T>A (p.Phe519Leu)
|
rs750440983
|
0.00001
|
NM_004795.4(KL):c.1626C>T (p.Thr542=)
|
rs746870927
|
0.00001
|
NM_004795.4(KL):c.1811C>A (p.Pro604His)
|
rs751229348
|
0.00001
|
NM_004795.4(KL):c.1848G>A (p.Leu616=)
|
rs1872157300
|
0.00001
|
NM_004795.4(KL):c.2300C>G (p.Ser767Cys)
|
rs1872192864
|
0.00001
|
NM_004795.4(KL):c.254A>G (p.Lys85Arg)
|
rs1190809246
|
0.00001
|
NM_004795.4(KL):c.257G>A (p.Gly86Asp)
|
rs1477759912
|
0.00001
|
NM_004795.4(KL):c.2684T>C (p.Ile895Thr)
|
rs387907441
|
0.00001
|
NM_004795.4(KL):c.2779C>T (p.Leu927Phe)
|
rs777126851
|
0.00001
|
NM_004795.4(KL):c.2874T>G (p.Thr958=)
|
rs746291771
|
0.00001
|
NM_004795.4(KL):c.2959G>A (p.Ala987Thr)
|
rs755999183
|
0.00001
|
NM_004795.4(KL):c.486G>A (p.Ala162=)
|
rs371131557
|
0.00001
|
NM_004795.4(KL):c.535C>T (p.Arg179Trp)
|
rs746435085
|
0.00001
|
NM_004795.4(KL):c.578A>G (p.His193Arg)
|
rs121908423
|
0.00001
|
NM_006580.4(CLDN16):c.*1178C>T
|
rs533709248
|
0.00001
|
NM_006580.4(CLDN16):c.*1333A>G
|
rs886058251
|
0.00001
|
NM_006580.4(CLDN16):c.*249G>A
|
rs886058246
|
0.00001
|
NM_006580.4(CLDN16):c.*74A>G
|
rs886058245
|
0.00001
|
NM_006580.4(CLDN16):c.*761A>G
|
rs886058248
|
0.00001
|
NM_006580.4(CLDN16):c.*768del
|
rs886058249
|
0.00001
|
NM_006580.4(CLDN16):c.*868A>C
|
rs1447125696
|
0.00001
|
NM_006580.4(CLDN16):c.-116G>T
|
rs763354782
|
0.00001
|
NM_006580.4(CLDN16):c.-132G>A
|
rs762405207
|
0.00001
|
NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro)
|
rs761873372
|
0.00001
|
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)
|
rs765256758
|
0.00001
|
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)
|
rs104893731
|
0.00001
|
NM_006580.4(CLDN16):c.437G>A (p.Arg146His)
|
rs772241737
|
0.00001
|
NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg)
|
rs104893721
|
0.00001
|
NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys)
|
rs756192568
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter)
|
rs543007243
|
0.00001
|
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)
|
rs1470207548
|
0.00001
|
NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)
|
rs1290938428
|
0.00001
|
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter)
|
rs767558735
|
0.00001
|
NM_020638.3(FGF23):c.*1134A>T
|
rs1865034354
|
0.00001
|
NM_020638.3(FGF23):c.*1925A>G
|
rs886049397
|
0.00001
|
NM_020638.3(FGF23):c.*614G>A
|
rs886049401
|
0.00001
|
NM_020638.3(FGF23):c.*93G>A
|
rs886049410
|
0.00001
|
NM_020638.3(FGF23):c.138A>G (p.Thr46=)
|
rs368115734
|
0.00001
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala)
|
rs774018822
|
0.00001
|
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu)
|
rs573322878
|
0.00001
|
NM_020638.3(FGF23):c.51C>T (p.Cys17=)
|
rs752187740
|
0.00001
|
NM_020638.3(FGF23):c.57G>A (p.Met19Ile)
|
rs766148024
|
0.00001
|
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
|
|
|
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
|
|
|
GRCh37/hg19 3q28(chr3:190114218-190144769)x1
|
|
|
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
|
|
|
NC_000003.11:g.(?_121489192)_(125313644_?)dup
|
|
|
NC_000003.11:g.(?_121973037)_(121973231_?)dup
|
|
|
NC_000003.11:g.(?_121973037)_(122004038_?)del
|
|
|
NC_000003.11:g.(?_121994639)_(122060414_?)del
|
|
|
NC_000003.12:g.(?_122254180)_(122285201_?)dup
|
|
|
NC_000003.12:g.(?_122282103)_(122285191_?)del
|
|
|
NC_000012.12:g.(1_3750000)_(5250000_9000000)del
|
|
|
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)
|
rs180177161
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)
|
rs779588655
|
|
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr)
|
rs1555466999
|
|
NM_000388.4(CASR):c.*1011T>A
|
rs922763349
|
|
NM_000388.4(CASR):c.*188dup
|
rs33974189
|
|
NM_000388.4(CASR):c.*60A>T
|
rs4677948
|
|
NM_000388.4(CASR):c.*640G>T
|
rs201855028
|
|
NM_000388.4(CASR):c.*790T>C
|
rs886057834
|
|
NM_000388.4(CASR):c.-137C>A
|
rs201074178
|
|
NM_000388.4(CASR):c.-378del
|
rs537119483
|
|
NM_000388.4(CASR):c.1002G>A (p.Leu334=)
|
rs2107632694
|
|
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)
|
rs548403340
|
|
NM_000388.4(CASR):c.1009G>T (p.Val337Phe)
|
rs770237878
|
|
NM_000388.4(CASR):c.1010T>C (p.Val337Ala)
|
rs2107632701
|
|
NM_000388.4(CASR):c.1012C>T (p.His338Tyr)
|
|
|
NM_000388.4(CASR):c.1014T>C (p.His338=)
|
rs1553766831
|
|
NM_000388.4(CASR):c.1016C>T (p.Pro339Leu)
|
rs2074632633
|
|
NM_000388.4(CASR):c.1017C>A (p.Pro339=)
|
rs1465688551
|
|
NM_000388.4(CASR):c.1017C>T (p.Pro339=)
|
rs1465688551
|
|
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly)
|
rs1060502853
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1020G>A (p.Arg340=)
|
|
|
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg)
|
|
|
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro)
|
rs2074632920
|
|
NM_000388.4(CASR):c.1029C>A (p.Val343=)
|
|
|
NM_000388.4(CASR):c.1032C>T (p.His344=)
|
rs2107632776
|
|
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser)
|
|
|
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile)
|
rs1390562571
|
|
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg)
|
|
|
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
|
|
|
NM_000388.4(CASR):c.1043C>T (p.Ala348Val)
|
rs1576858988
|
|
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu)
|
rs2107632802
|
|
NM_000388.4(CASR):c.1044C>T (p.Ala348=)
|
|
|
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu)
|
rs1576859001
|
|
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)
|
|
|
NM_000388.4(CASR):c.104G>A (p.Gly35Glu)
|
|
|
NM_000388.4(CASR):c.1050G>A (p.Glu350=)
|
|
|
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg)
|
rs2107632817
|
|
NM_000388.4(CASR):c.1054del (p.Trp352fs)
|
rs2107632814
|
|
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)
|
rs2107632822
|
|
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)
|
rs193922419
|
|
NM_000388.4(CASR):c.1062A>G (p.Glu354=)
|
|
|
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala)
|
rs1576859014
|
|
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg)
|
|
|
NM_000388.4(CASR):c.1071C>T (p.Asn357=)
|
|
|
NM_000388.4(CASR):c.1074C>T (p.Cys358=)
|
rs886044221
|
|
NM_000388.4(CASR):c.1076A>G (p.His359Arg)
|
rs1576859031
|
|
NM_000388.4(CASR):c.1076A>T (p.His359Leu)
|
rs1576859031
|
|
NM_000388.4(CASR):c.1078C>T (p.Leu360Phe)
|
|
|
NM_000388.4(CASR):c.107G>T (p.Gly36Val)
|
rs1559955372
|
|
NM_000388.4(CASR):c.1080C>A (p.Leu360=)
|
rs2107632855
|
|
NM_000388.4(CASR):c.1080C>G (p.Leu360=)
|
rs2107632855
|
|
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)
|
rs2107632860
|
|
NM_000388.4(CASR):c.1084G>A (p.Glu362Lys)
|
rs2107632864
|
|
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser)
|
rs757475954
|
|
NM_000388.4(CASR):c.1088G>A (p.Gly363Asp)
|
rs2074633801
|
|
NM_000388.4(CASR):c.108del (p.Leu37fs)
|
rs886041823
|
|
NM_000388.4(CASR):c.108dup (p.Leu37fs)
|
rs886041823
|
|
NM_000388.4(CASR):c.1092A>C (p.Ala364=)
|
rs2107632879
|
|
NM_000388.4(CASR):c.1096G>A (p.Gly366Arg)
|
rs2074633882
|
|
NM_000388.4(CASR):c.10T>C (p.Tyr4His)
|
rs1559955224
|
|
NM_000388.4(CASR):c.1100C>A (p.Pro367His)
|
|
|
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu)
|
|
|
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser)
|
rs1576859083
|
|
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)
|
|
|
NM_000388.4(CASR):c.1105C>T (p.Pro369Ser)
|
rs1217895146
|
|
NM_000388.4(CASR):c.1108G>A (p.Val370Met)
|
rs2074634164
|
|
NM_000388.4(CASR):c.1108G>C (p.Val370Leu)
|
|
|
NM_000388.4(CASR):c.1109T>C (p.Val370Ala)
|
|
|
NM_000388.4(CASR):c.110T>C (p.Leu37Pro)
|
|
|
NM_000388.4(CASR):c.1113C>T (p.Asp371=)
|
rs1320065729
|
|
NM_000388.4(CASR):c.1114A>C (p.Thr372Pro)
|
rs571007208
|
|
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
|
|
|
NM_000388.4(CASR):c.1114dup (p.Thr372fs)
|
|
|
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn)
|
rs2074634402
|
|
NM_000388.4(CASR):c.1115C>T (p.Thr372Ile)
|
rs2074634402
|
|
NM_000388.4(CASR):c.1116C>G (p.Thr372=)
|
|
|
NM_000388.4(CASR):c.1116C>T (p.Thr372=)
|
rs539867627
|
|
NM_000388.4(CASR):c.111C>T (p.Leu37=)
|
rs2074530079
|
|
NM_000388.4(CASR):c.1124G>C (p.Arg375Thr)
|
|
|
NM_000388.4(CASR):c.1124G>T (p.Arg375Ile)
|
rs760190284
|
|
NM_000388.4(CASR):c.1126G>A (p.Gly376Ser)
|
rs2107632942
|
|
NM_000388.4(CASR):c.1127G>A (p.Gly376Asp)
|
|
|
NM_000388.4(CASR):c.1127G>T (p.Gly376Val)
|
rs2074634579
|
|
NM_000388.4(CASR):c.112_113insC (p.Phe38fs)
|
rs2107624936
|
|
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)
|
rs201338034
|
|
NM_000388.4(CASR):c.1135G>A (p.Glu379Lys)
|
rs1189291559
|
|
NM_000388.4(CASR):c.1138A>G (p.Ser380Gly)
|
rs2074634758
|
|
NM_000388.4(CASR):c.1143C>A (p.Gly381=)
|
rs374835228
|
|
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr)
|
|
|
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly)
|
|
|
NM_000388.4(CASR):c.1149G>A (p.Arg383=)
|
|
|
NM_000388.4(CASR):c.114T>A (p.Phe38Leu)
|
|
|
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn)
|
rs1553766867
|
|
NM_000388.4(CASR):c.1155C>A (p.Ser385Arg)
|
|
|
NM_000388.4(CASR):c.1155C>T (p.Ser385=)
|
|
|
NM_000388.4(CASR):c.1156A>C (p.Asn386His)
|
rs2107632989
|
|
NM_000388.4(CASR):c.115C>G (p.Pro39Ala)
|
rs121909262
|
|
NM_000388.4(CASR):c.115C>T (p.Pro39Ser)
|
rs121909262
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.1164G>C (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.1164G>T (p.Ser388=)
|
|
|
NM_000388.4(CASR):c.1165A>G (p.Thr389Ala)
|
|
|
NM_000388.4(CASR):c.1166C>G (p.Thr389Arg)
|
rs2107633014
|
|
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr)
|
rs202228006
|
|
NM_000388.4(CASR):c.1169C>A (p.Ala390Asp)
|
rs757533550
|
|
NM_000388.4(CASR):c.1169C>G (p.Ala390Gly)
|
rs757533550
|
|
NM_000388.4(CASR):c.1170C>T (p.Ala390=)
|
rs1264660850
|
|
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser)
|
rs2074635544
|
|
NM_000388.4(CASR):c.1174C>A (p.Arg392=)
|
rs1559959758
|
|
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)
|
rs1559959758
|
|
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu)
|
rs1287075426
|
|
NM_000388.4(CASR):c.1176A>T (p.Arg392=)
|
rs1576859254
|
|
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr)
|
rs2107633043
|
|
NM_000388.4(CASR):c.1179C>A (p.Pro393=)
|
|
|
NM_000388.4(CASR):c.1179C>T (p.Pro393=)
|
rs1553766873
|
|
NM_000388.4(CASR):c.117T>G (p.Pro39=)
|
|
|
NM_000388.4(CASR):c.1180C>G (p.Leu394Val)
|
rs1559959773
|
|
NM_000388.4(CASR):c.1180C>T (p.Leu394Phe)
|
rs1559959773
|
|
NM_000388.4(CASR):c.1181T>A (p.Leu394His)
|
rs2107633055
|
|
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)
|
rs1057517712
|
|
NM_000388.4(CASR):c.1187C>G (p.Thr396Arg)
|
rs1576859271
|
|
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu)
|
rs1210105383
|
|
NM_000388.4(CASR):c.1191G>A (p.Gly397=)
|
|
|
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr)
|
rs201177696
|
|
NM_000388.4(CASR):c.1193A>T (p.Asp398Val)
|
|
|
NM_000388.4(CASR):c.1198A>G (p.Asn400Asp)
|
|
|
NM_000388.4(CASR):c.1198A>T (p.Asn400Tyr)
|
|
|
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile)
|
rs576643925
|
|
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys)
|
rs1171102282
|
|
NM_000388.4(CASR):c.1204A>G (p.Ser402Gly)
|
|
|
NM_000388.4(CASR):c.1205G>A (p.Ser402Asn)
|
rs2074636407
|
|
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg)
|
rs755403770
|
|
NM_000388.4(CASR):c.1207A>C (p.Ser403Arg)
|
rs779219555
|
|
NM_000388.4(CASR):c.1209T>C (p.Ser403=)
|
rs387907400
|
|
NM_000388.4(CASR):c.1209T>G (p.Ser403Arg)
|
rs387907400
|
|
NM_000388.4(CASR):c.1211T>G (p.Val404Gly)
|
rs2074636577
|
|
NM_000388.4(CASR):c.1212C>G (p.Val404=)
|
rs967661303
|
|
NM_000388.4(CASR):c.1212C>T (p.Val404=)
|
rs967661303
|
|
NM_000388.4(CASR):c.1214A>G (p.Glu405Gly)
|
rs2074636705
|
|
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala)
|
rs977386230
|
|
NM_000388.4(CASR):c.121C>A (p.His41Asn)
|
|
|
NM_000388.4(CASR):c.1224C>T (p.Tyr408=)
|
rs2107633125
|
|
NM_000388.4(CASR):c.1225A>G (p.Ile409Val)
|
rs1576859345
|
|
NM_000388.4(CASR):c.1226T>C (p.Ile409Thr)
|
|
|
NM_000388.4(CASR):c.1231T>A (p.Tyr411Asn)
|
|
|
NM_000388.4(CASR):c.1231T>G (p.Tyr411Asp)
|
|
|
NM_000388.4(CASR):c.1232A>G (p.Tyr411Cys)
|
|
|
NM_000388.4(CASR):c.1233C>T (p.Tyr411=)
|
rs2107633138
|
|
NM_000388.4(CASR):c.1236G>A (p.Thr412=)
|
rs200443784
|
|
NM_000388.4(CASR):c.1236G>T (p.Thr412=)
|
rs200443784
|
|
NM_000388.4(CASR):c.1237C>T (p.His413Tyr)
|
rs2107633148
|
|
NM_000388.4(CASR):c.1238A>T (p.His413Leu)
|
rs1553766896
|
|
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)
|
rs193922421
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1251C>T (p.Ser417=)
|
rs2107633167
|
|
NM_000388.4(CASR):c.1254C>T (p.Tyr418=)
|
rs1325695500
|
|
NM_000388.4(CASR):c.1257T>C (p.Asn419=)
|
rs1350678512
|
|
NM_000388.4(CASR):c.1259T>A (p.Val420Glu)
|
|
|
NM_000388.4(CASR):c.125T>C (p.Phe42Ser)
|
rs1553765909
|
|
NM_000388.4(CASR):c.1260G>A (p.Val420=)
|
|
|
NM_000388.4(CASR):c.1264T>G (p.Leu422Val)
|
|
|
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr)
|
rs2074637455
|
|
NM_000388.4(CASR):c.1268_1270del (p.Ala423del)
|
|
|
NM_000388.4(CASR):c.1278C>T (p.Ser426=)
|
rs748460866
|
|
NM_000388.4(CASR):c.1279A>G (p.Ile427Val)
|
rs2074637558
|
|
NM_000388.4(CASR):c.127G>A (p.Gly43Arg)
|
rs866899753
|
|
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr)
|
rs1553766906
|
|
NM_000388.4(CASR):c.1284C>T (p.Ala428=)
|
rs2107633210
|
|
NM_000388.4(CASR):c.1286A>G (p.His429Arg)
|
|
|
NM_000388.4(CASR):c.1287C>A (p.His429Gln)
|
rs746515147
|
|
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)
|
|
|
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr)
|
rs201520875
|
|
NM_000388.4(CASR):c.1293G>A (p.Leu431=)
|
|
|
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
|
|
|
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr)
|
rs1375250506
|
|
NM_000388.4(CASR):c.1302A>G (p.Ile434Met)
|
rs2074638026
|
|
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)
|
|
|
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe)
|
rs1553766913
|
|
NM_000388.4(CASR):c.1305T>C (p.Tyr435=)
|
rs1553766914
|
|
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
|
rs1553766916
|
|
NM_000388.4(CASR):c.1309T>A (p.Cys437Ser)
|
rs1559959958
|
|
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg)
|
rs1559959958
|
|
NM_000388.4(CASR):c.130G>A (p.Val44Ile)
|
rs2074530467
|
|
NM_000388.4(CASR):c.1311C>T (p.Cys437=)
|
rs2107633255
|
|
NM_000388.4(CASR):c.1312T>C (p.Leu438=)
|
rs1304302853
|
|
NM_000388.4(CASR):c.1316C>A (p.Pro439His)
|
rs2074638314
|
|
NM_000388.4(CASR):c.1317T>C (p.Pro439=)
|
rs765170020
|
|
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg)
|
|
|
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu)
|
|
|
NM_000388.4(CASR):c.131T>A (p.Val44Glu)
|
rs2074530498
|
|
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe)
|
rs267599574
|
|
NM_000388.4(CASR):c.1328T>C (p.Leu443Pro)
|
rs2107633278
|
|
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys)
|
|
|
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro)
|
|
|
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile)
|
rs1471887387
|
|
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser)
|
rs1553766925
|
|
NM_000388.4(CASR):c.1341C>T (p.Gly447=)
|
rs1576859552
|
|
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)
|
|
|
NM_000388.4(CASR):c.134C>A (p.Ala45Glu)
|
rs779995504
|
|
NM_000388.4(CASR):c.134C>T (p.Ala45Val)
|
rs779995504
|
|
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr)
|
rs540006567
|
|
NM_000388.4(CASR):c.1354A>G (p.Ile452Val)
|
rs756206452
|
|
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)
|
|
|
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)
|
|
|
NM_000388.4(CASR):c.1363G>C (p.Val455Leu)
|
rs2107633315
|
|
NM_000388.4(CASR):c.1364T>C (p.Val455Ala)
|
rs2107633318
|
|
NM_000388.4(CASR):c.1370C>T (p.Ala457Val)
|
rs1553766930
|
|
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys)
|
rs2074639368
|
|
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)
|
rs2107633334
|
|
NM_000388.4(CASR):c.1377+13C>T
|
|
|
NM_000388.4(CASR):c.1377+14T>G
|
|
|
NM_000388.4(CASR):c.1377+19T>C
|
rs2074639946
|
|
NM_000388.4(CASR):c.1377+1G>A
|
|
|
NM_000388.4(CASR):c.1377+1G>T
|
rs2074639464
|
|
NM_000388.4(CASR):c.1377+20A>C
|
|
|
NM_000388.4(CASR):c.1377+2T>A
|
rs78925326
|
|
NM_000388.4(CASR):c.1377+3G>A
|
rs199824580
|
|
NM_000388.4(CASR):c.1377+4C>G
|
rs1445251048
|
|
NM_000388.4(CASR):c.1377+4C>T
|
rs1445251048
|
|
NM_000388.4(CASR):c.1377G>T (p.Gln459His)
|
|
|
NM_000388.4(CASR):c.1378-11C>T
|
rs2107643342
|
|
NM_000388.4(CASR):c.1378-16C>A
|
|
|
NM_000388.4(CASR):c.1378-16C>G
|
rs200620953
|
|
NM_000388.4(CASR):c.1378-1G>C
|
rs2074810403
|
|
NM_000388.4(CASR):c.1378-7T>C
|
rs1227939510
|
|
NM_000388.4(CASR):c.1378-9C>T
|
|
|
NM_000388.4(CASR):c.1381C>T (p.Leu461=)
|
rs2107643359
|
|
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln)
|
rs1553768082
|
|
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro)
|
rs1553768082
|
|
NM_000388.4(CASR):c.1386G>A (p.Lys462=)
|
|
|
NM_000388.4(CASR):c.1389C>T (p.His463=)
|
rs201572629
|
|
NM_000388.4(CASR):c.1390C>G (p.Leu464Val)
|
rs778165189
|
|
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg)
|
|
|
NM_000388.4(CASR):c.1392A>G (p.Leu464=)
|
rs2107643383
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)
|
|
|
NM_000388.4(CASR):c.1395G>A (p.Arg465=)
|
rs387907391
|
|
NM_000388.4(CASR):c.1395G>C (p.Arg465=)
|
|
|
NM_000388.4(CASR):c.1398T>C (p.His466=)
|
rs760939658
|
|
NM_000388.4(CASR):c.139A>G (p.Lys47Glu)
|
rs2107624989
|
|
NM_000388.4(CASR):c.1402A>C (p.Asn468His)
|
rs2074810921
|
|
NM_000388.4(CASR):c.1405T>G (p.Phe469Val)
|
|
|
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys)
|
rs1376231303
|
|
NM_000388.4(CASR):c.1408A>T (p.Thr470Ser)
|
rs2074811205
|
|
NM_000388.4(CASR):c.1410A>C (p.Thr470=)
|
rs199886514
|
|
NM_000388.4(CASR):c.1415A>C (p.Asn472Thr)
|
|
|
NM_000388.4(CASR):c.1416T>C (p.Asn472=)
|
rs1576870201
|
|
NM_000388.4(CASR):c.1417A>G (p.Met473Val)
|
rs2074811389
|
|
NM_000388.4(CASR):c.1418T>C (p.Met473Thr)
|
rs2074811449
|
|
NM_000388.4(CASR):c.1418T>G (p.Met473Arg)
|
|
|
NM_000388.4(CASR):c.1419G>A (p.Met473Ile)
|
rs1559965073
|
|
NM_000388.4(CASR):c.141A>C (p.Lys47Asn)
|
rs104893702
|
|
NM_000388.4(CASR):c.1420G>A (p.Gly474Arg)
|
rs2107643437
|
|
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln)
|
rs1406184611
|
|
NM_000388.4(CASR):c.1425G>A (p.Glu475=)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1429G>A (p.Val477Met)
|
rs1416680566
|
|
NM_000388.4(CASR):c.142G>A (p.Asp48Asn)
|
|
|
NM_000388.4(CASR):c.1437T>C (p.Phe479=)
|
rs143360516
|
|
NM_000388.4(CASR):c.1439A>T (p.Asp480Val)
|
rs2074811961
|
|
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu)
|
|
|
NM_000388.4(CASR):c.1443G>A (p.Glu481=)
|
|
|
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg)
|
rs774174934
|
|
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe)
|
|
|
NM_000388.4(CASR):c.1449T>C (p.Gly483=)
|
rs771186654
|
|
NM_000388.4(CASR):c.1453C>T (p.Leu485=)
|
rs2107643506
|
|
NM_000388.4(CASR):c.1455G>A (p.Leu485=)
|
|
|
NM_000388.4(CASR):c.1458G>A (p.Val486=)
|
rs2074812399
|
|
NM_000388.4(CASR):c.145C>G (p.Gln49Glu)
|
rs1553765913
|
|
NM_000388.4(CASR):c.1463A>T (p.Asn488Ile)
|
rs146739893
|
|
NM_000388.4(CASR):c.1464C>T (p.Asn488=)
|
|
|
NM_000388.4(CASR):c.1465T>C (p.Tyr489His)
|
|
|
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
NM_000388.4(CASR):c.1467T>C (p.Tyr489=)
|
rs1576870324
|
|
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr)
|
rs140347078
|
|
NM_000388.4(CASR):c.147A>G (p.Gln49=)
|
|
|
NM_000388.4(CASR):c.1483C>T (p.His495Tyr)
|
|
|
NM_000388.4(CASR):c.1486C>T (p.Leu496Phe)
|
|
|
NM_000388.4(CASR):c.1487T>C (p.Leu496Pro)
|
rs2107643566
|
|
NM_000388.4(CASR):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_000388.4(CASR):c.1491C>A (p.Ser497=)
|
rs150337940
|
|
NM_000388.4(CASR):c.1493C>A (p.Pro498Gln)
|
|
|
NM_000388.4(CASR):c.1495G>A (p.Glu499Lys)
|
rs2107643577
|
|
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala)
|
rs1471885969
|
|
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
|
|
|
NM_000388.4(CASR):c.1497G>C (p.Glu499Asp)
|
rs2074813113
|
|
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)
|
rs1156349993
|
|
NM_000388.4(CASR):c.149A>G (p.Asp50Gly)
|
rs1174370617
|
|
NM_000388.4(CASR):c.149A>T (p.Asp50Val)
|
rs1174370617
|
|
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu)
|
rs200240922
|
|
NM_000388.4(CASR):c.1505C>T (p.Ser502Phe)
|
rs1576870394
|
|
NM_000388.4(CASR):c.1506C>A (p.Ser502=)
|
rs1576870401
|
|
NM_000388.4(CASR):c.1506C>T (p.Ser502=)
|
|
|
NM_000388.4(CASR):c.1507A>G (p.Ile503Val)
|
rs200910001
|
|
NM_000388.4(CASR):c.1507del (p.Ile503fs)
|
|
|
NM_000388.4(CASR):c.1509C>G (p.Ile503Met)
|
rs757499017
|
|
NM_000388.4(CASR):c.1509C>T (p.Ile503=)
|
rs757499017
|
|
NM_000388.4(CASR):c.1510G>C (p.Val504Leu)
|
rs201536450
|
|
NM_000388.4(CASR):c.1512G>A (p.Val504=)
|
rs2074813597
|
|
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)
|
rs193922422
|
|
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu)
|
rs2107643628
|
|
NM_000388.4(CASR):c.1515T>C (p.Phe505=)
|
|
|
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr)
|
rs750090892
|
|
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)
|
rs193922423
|
|
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu)
|
rs1060502845
|
|
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala)
|
|
|
NM_000388.4(CASR):c.1527G>A (p.Gly509=)
|
rs2107643649
|
|
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp)
|
rs1576870447
|
|
NM_000388.4(CASR):c.1536C>T (p.Asn512=)
|
rs887358400
|
|
NM_000388.4(CASR):c.1537G>A (p.Val513Ile)
|
rs866241407
|
|
NM_000388.4(CASR):c.1539C>T (p.Val513=)
|
rs1553768122
|
|
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_000388.4(CASR):c.1542T>C (p.Tyr514=)
|
|
|
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)
|
rs2074814252
|
|
NM_000388.4(CASR):c.154A>G (p.Lys52Glu)
|
|
|
NM_000388.4(CASR):c.1550A>T (p.Lys517Met)
|
rs2107643696
|
|
NM_000388.4(CASR):c.1551G>A (p.Lys517=)
|
|
|
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg)
|
rs2074814547
|
|
NM_000388.4(CASR):c.1557A>G (p.Glu519=)
|
|
|
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs)
|
rs2107643705
|
|
NM_000388.4(CASR):c.155A>G (p.Lys52Arg)
|
rs1553765922
|
|
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
|
|
|
NM_000388.4(CASR):c.1560A>G (p.Arg520=)
|
|
|
NM_000388.4(CASR):c.1561C>G (p.Leu521Val)
|
|
|
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe)
|
|
|
NM_000388.4(CASR):c.1563C>T (p.Leu521=)
|
|
|
NM_000388.4(CASR):c.1564T>G (p.Phe522Val)
|
rs746054548
|
|
NM_000388.4(CASR):c.1565T>C (p.Phe522Ser)
|
|
|
NM_000388.4(CASR):c.1565T>G (p.Phe522Cys)
|
|
|
NM_000388.4(CASR):c.1566C>A (p.Phe522Leu)
|
rs769907714
|
|
NM_000388.4(CASR):c.1566C>T (p.Phe522=)
|
|
|
NM_000388.4(CASR):c.1567A>G (p.Ile523Val)
|
rs2107643730
|
|
NM_000388.4(CASR):c.156A>G (p.Lys52=)
|
rs2107625024
|
|
NM_000388.4(CASR):c.1572C>T (p.Asn524=)
|
rs776534485
|
|
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala)
|
|
|
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly)
|
|
|
NM_000388.4(CASR):c.1575G>A (p.Glu525=)
|
rs898193456
|
|
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys)
|
rs201568219
|
|
NM_000388.4(CASR):c.157T>C (p.Ser53Pro)
|
rs2107625030
|
|
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn)
|
rs1553768128
|
|
NM_000388.4(CASR):c.1592G>A (p.Ser531Asn)
|
rs764669682
|
|
NM_000388.4(CASR):c.1592G>C (p.Ser531Thr)
|
|
|
NM_000388.4(CASR):c.1596G>A (p.Gly532=)
|
rs774666667
|
|
NM_000388.4(CASR):c.1598T>A (p.Phe533Tyr)
|
|
|
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser)
|
rs2107643782
|
|
NM_000388.4(CASR):c.159A>C (p.Ser53=)
|
|
|
NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)
|
|
|
NM_000388.4(CASR):c.1601C>T (p.Ser534Phe)
|
|
|
NM_000388.4(CASR):c.1605G>T (p.Arg535Ser)
|
|
|
NM_000388.4(CASR):c.1606G>A (p.Glu536Lys)
|
|
|
NM_000388.4(CASR):c.1608+10G>A
|
rs2074816255
|
|
NM_000388.4(CASR):c.1608+14A>G
|
rs1350749810
|
|
NM_000388.4(CASR):c.1608+16C>G
|
|
|
NM_000388.4(CASR):c.1608+1G>A
|
|
|
NM_000388.4(CASR):c.1608+2T>C
|
|
|
NM_000388.4(CASR):c.1608+4G>T
|
rs878853974
|
|
NM_000388.4(CASR):c.1608+5G>A
|
rs2107643797
|
|
NM_000388.4(CASR):c.1608+5del
|
rs2074816023
|
|
NM_000388.4(CASR):c.1608+7G>T
|
|
|
NM_000388.4(CASR):c.1608+9T>A
|
rs1407921987
|
|
NM_000388.4(CASR):c.1609-10T>G
|
rs1576875662
|
|
NM_000388.4(CASR):c.1609-11C>G
|
|
|
NM_000388.4(CASR):c.1609-13G>A
|
rs1274123257
|
|
NM_000388.4(CASR):c.1609-2A>G
|
rs761084315
|
|
NM_000388.4(CASR):c.1609-4C>T
|
rs200534176
|
|
NM_000388.4(CASR):c.1609-5T>C
|
|
|
NM_000388.4(CASR):c.1609-7C>T
|
|
|
NM_000388.4(CASR):c.1609G>C (p.Val537Leu)
|
|
|
NM_000388.4(CASR):c.1611G>C (p.Val537=)
|
rs1576875688
|
|
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr)
|
|
|
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe)
|
rs1057518409
|
|
NM_000388.4(CASR):c.1620C>T (p.Ser540=)
|
rs1576875710
|
|
NM_000388.4(CASR):c.1622A>C (p.Asn541Thr)
|
rs201202700
|
|
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)
|
rs201202700
|
|
NM_000388.4(CASR):c.1624_1626del (p.Cys542del)
|
rs1060502846
|
|
NM_000388.4(CASR):c.1626C>T (p.Cys542=)
|
rs1576875732
|
|
NM_000388.4(CASR):c.1628G>C (p.Ser543Thr)
|
rs1576875740
|
|
NM_000388.4(CASR):c.162G>C (p.Arg54Ser)
|
rs2074531100
|
|
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr)
|
rs2107648244
|
|
NM_000388.4(CASR):c.1637G>T (p.Cys546Phe)
|
rs2107648244
|
|
NM_000388.4(CASR):c.1639C>T (p.Leu547=)
|
|
|
NM_000388.4(CASR):c.163C>T (p.Pro55Ser)
|
|
|
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro)
|
rs2074897267
|
|
NM_000388.4(CASR):c.1641G>A (p.Leu547=)
|
|
|
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr)
|
rs200647941
|
|
NM_000388.4(CASR):c.1642G>T (p.Ala548Ser)
|
rs200647941
|
|
NM_000388.4(CASR):c.1643C>A (p.Ala548Glu)
|
|
|
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg)
|
rs2107648261
|
|
NM_000388.4(CASR):c.1646G>A (p.Gly549Glu)
|
rs2107648266
|
|
NM_000388.4(CASR):c.1647G>T (p.Gly549=)
|
rs1553768722
|
|
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)
|
rs886041154
|
|
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)
|
rs1060502847
|
|
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)
|
rs1060502861
|
|
NM_000388.4(CASR):c.1653G>A (p.Arg551=)
|
rs1576875790
|
|
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)
|
rs104893719
|
|
NM_000388.4(CASR):c.1658G>T (p.Gly553Val)
|
rs1576875807
|
|
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe)
|
rs2074897865
|
|
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)
|
rs2074897929
|
|
NM_000388.4(CASR):c.1663A>G (p.Ile555Val)
|
rs777646067
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.1665T>C (p.Ile555=)
|
rs201955278
|
|
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp)
|
rs186279271
|
|
NM_000388.4(CASR):c.1669G>A (p.Gly557Arg)
|
rs2107648307
|
|
NM_000388.4(CASR):c.1669G>T (p.Gly557Trp)
|
|
|
NM_000388.4(CASR):c.166del (p.Glu56fs)
|
rs193922424
|
|
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)
|
rs1576875835
|
|
NM_000388.4(CASR):c.1671G>A (p.Gly557=)
|
|
|
NM_000388.4(CASR):c.1672dup (p.Glu558fs)
|
rs2107648305
|
|
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)
|
rs1553768726
|
|
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs)
|
|
|
NM_000388.4(CASR):c.1676C>A (p.Pro559His)
|
rs193922425
|
|
NM_000388.4(CASR):c.1677C>T (p.Pro559=)
|
|
|
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn)
|
rs768820665
|
|
NM_000388.4(CASR):c.167A>T (p.Glu56Val)
|
rs2107625061
|
|
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly)
|
rs2074898625
|
|
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)
|
|
|
NM_000388.4(CASR):c.1683C>T (p.Cys561=)
|
rs2107648334
|
|
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
|
|
|
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)
|
rs193922426
|
|
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)
|
rs193922427
|
|
NM_000388.4(CASR):c.1686C>T (p.Cys562=)
|
rs193922428
|
|
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu)
|
rs2074898883
|
|
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser)
|
rs1553768731
|
|
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg)
|
rs1559967708
|
|
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly)
|
rs1559967708
|
|
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr)
|
rs1553768736
|
|
NM_000388.4(CASR):c.1698G>A (p.Val566=)
|
rs2074899115
|
|
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys)
|
rs868390788
|
|
NM_000388.4(CASR):c.16T>G (p.Cys6Gly)
|
rs1559955229
|
|
NM_000388.4(CASR):c.1701G>A (p.Glu567=)
|
|
|
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly)
|
rs1060502851
|
|
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr)
|
rs2107648373
|
|
NM_000388.4(CASR):c.1704T>C (p.Cys568=)
|
rs2107648376
|
|
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser)
|
rs1271168512
|
|
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)
|
|
|
NM_000388.4(CASR):c.1711G>T (p.Gly571Trp)
|
|
|
NM_000388.4(CASR):c.1713G>A (p.Gly571=)
|
rs200878919
|
|
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln)
|
rs2107648387
|
|
NM_000388.4(CASR):c.1716G>A (p.Glu572=)
|
rs946945741
|
|
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn)
|
rs2074899710
|
|
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp)
|
rs2074899858
|
|
NM_000388.4(CASR):c.1732+10C>T
|
rs201859314
|
|
NM_000388.4(CASR):c.1732+12C>A
|
|
|
NM_000388.4(CASR):c.1732+12C>T
|
rs1336922681
|
|
NM_000388.4(CASR):c.1732+13C>T
|
|
|
NM_000388.4(CASR):c.1732+15C>T
|
|
|
NM_000388.4(CASR):c.1732+15_1732+16delinsAC
|
rs2107648439
|
|
NM_000388.4(CASR):c.1732+1_1732+10delinsTG
|
rs1064792970
|
|
NM_000388.4(CASR):c.1732+20G>T
|
|
|
NM_000388.4(CASR):c.1732+6G>A
|
|
|
NM_000388.4(CASR):c.1732+6G>T
|
|
|
NM_000388.4(CASR):c.1732+7G>C
|
|
|
NM_000388.4(CASR):c.1732+9A>G
|
rs2074900202
|
|
NM_000388.4(CASR):c.1733-10C>T
|
rs1559968171
|
|
NM_000388.4(CASR):c.1733-12G>A
|
rs2107649328
|
|
NM_000388.4(CASR):c.1733-13G>A
|
|
|
NM_000388.4(CASR):c.1733-16C>T
|
|
|
NM_000388.4(CASR):c.1733-7T>A
|
rs2074920505
|
|
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly)
|
rs2107649336
|
|
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
|
|
|
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)
|
rs2074920676
|
|
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg)
|
|
|
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)
|
rs104893690
|
|
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe)
|
rs104893690
|
|
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser)
|
rs2074920846
|
|
NM_000388.4(CASR):c.1749C>T (p.Asn583=)
|
|
|
NM_000388.4(CASR):c.1751A>C (p.Lys584Thr)
|
|
|
NM_000388.4(CASR):c.1753T>A (p.Cys585Ser)
|
|
|
NM_000388.4(CASR):c.1755C>G (p.Cys585Trp)
|
|
|
NM_000388.4(CASR):c.1758A>G (p.Pro586=)
|
|
|
NM_000388.4(CASR):c.1759dup (p.Asp587fs)
|
rs2107649366
|
|
NM_000388.4(CASR):c.175G>A (p.Glu59Lys)
|
rs2107625081
|
|
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu)
|
|
|
NM_000388.4(CASR):c.1764C>T (p.Asp588=)
|
|
|
NM_000388.4(CASR):c.1767C>T (p.Phe589=)
|
rs1465788605
|
|
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
|
|
|
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe)
|
|
|
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer)
|
rs2107649385
|
|
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile)
|
|
|
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys)
|
rs2107649392
|
|
NM_000388.4(CASR):c.1782C>T (p.Asn594=)
|
|
|
NM_000388.4(CASR):c.1783del (p.His595fs)
|
rs2107649406
|
|
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
|
|
|
NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del)
|
|
|
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro)
|
rs1553768903
|
|
NM_000388.4(CASR):c.1793G>A (p.Cys598Tyr)
|
rs2107649418
|
|
NM_000388.4(CASR):c.1796T>C (p.Ile599Thr)
|
rs2107649420
|
|
NM_000388.4(CASR):c.179G>T (p.Cys60Phe)
|
rs772906030
|
|
NM_000388.4(CASR):c.1800C>G (p.Ala600=)
|
|
|
NM_000388.4(CASR):c.1802del (p.Lys601fs)
|
rs2107649423
|
|
NM_000388.4(CASR):c.1803G>A (p.Lys601=)
|
rs2074922113
|
|
NM_000388.4(CASR):c.1803G>C (p.Lys601Asn)
|
|
|
NM_000388.4(CASR):c.1809C>T (p.Ile603=)
|
rs1332311514
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro)
|
rs2107649441
|
|
NM_000388.4(CASR):c.1818G>A (p.Leu606=)
|
|
|
NM_000388.4(CASR):c.181A>C (p.Ile61Leu)
|
rs2074531605
|
|
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)
|
|
|
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)
|
rs1052956823
|
|
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg)
|
rs2107649456
|
|
NM_000388.4(CASR):c.1824G>C (p.Trp608Cys)
|
|
|
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys)
|
rs759904153
|
|
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg)
|
rs759904153
|
|
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)
|
|
|
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser)
|
|
|
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)
|
rs104893698
|
|
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg)
|
rs1060502842
|
|
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
|
|
|
NM_000388.4(CASR):c.183C>T (p.Ile61=)
|
rs2074531684
|
|
NM_000388.4(CASR):c.1842C>G (p.Ile614Met)
|
rs199513106
|
|
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
|
|
|
NM_000388.4(CASR):c.1843G>T (p.Ala615Ser)
|
|
|
NM_000388.4(CASR):c.1844C>T (p.Ala615Val)
|
|
|
NM_000388.4(CASR):c.1846C>G (p.Leu616Val)
|
rs104893703
|
|
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)
|
|
|
NM_000388.4(CASR):c.1848C>A (p.Leu616=)
|
rs2107649505
|
|
NM_000388.4(CASR):c.184A>C (p.Arg62=)
|
|
|
NM_000388.4(CASR):c.185+10G>T
|
rs201869423
|
|
NM_000388.4(CASR):c.185+11G>A
|
|
|
NM_000388.4(CASR):c.185+12G>A
|
|
|
NM_000388.4(CASR):c.185+13G>A
|
|
|
NM_000388.4(CASR):c.185+15C>A
|
rs199849269
|
|
NM_000388.4(CASR):c.185+15C>G
|
rs199849269
|
|
NM_000388.4(CASR):c.185+15C>T
|
|
|
NM_000388.4(CASR):c.185+17A>G
|
rs2107625126
|
|
NM_000388.4(CASR):c.185+1G>A
|
|
|
NM_000388.4(CASR):c.185+20C>T
|
|
|
NM_000388.4(CASR):c.185+5_185+18del
|
rs1576852370
|
|
NM_000388.4(CASR):c.185+7_185+9del
|
rs1576852373
|
|
NM_000388.4(CASR):c.185+9_185+10del
|
rs2107625112
|
|
NM_000388.4(CASR):c.1851C>A (p.Thr617=)
|
rs1553768940
|
|
NM_000388.4(CASR):c.1852C>G (p.Leu618Val)
|
rs2074923685
|
|
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe)
|
|
|
NM_000388.4(CASR):c.1852del (p.Leu618fs)
|
rs2107649518
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
NM_000388.4(CASR):c.1854C>T (p.Leu618=)
|
rs1553768941
|
|
NM_000388.4(CASR):c.185G>A (p.Arg62Lys)
|
|
|
NM_000388.4(CASR):c.185G>T (p.Arg62Met)
|
rs121909265
|
|
NM_000388.4(CASR):c.186-10T>C
|
rs2107627405
|
|
NM_000388.4(CASR):c.186-13T>G
|
|
|
NM_000388.4(CASR):c.186-15T>C
|
|
|
NM_000388.4(CASR):c.186-16T>G
|
rs2107627398
|
|
NM_000388.4(CASR):c.186-17CTT[2]
|
rs769243052
|
|
NM_000388.4(CASR):c.186-18A>G
|
|
|
NM_000388.4(CASR):c.186-1G>A
|
|
|
NM_000388.4(CASR):c.186-1G>C
|
|
|
NM_000388.4(CASR):c.186-1G>T
|
rs797044441
|
|
NM_000388.4(CASR):c.186-2A>G
|
rs1350886416
|
|
NM_000388.4(CASR):c.186-3C>T
|
|
|
NM_000388.4(CASR):c.186-4C>A
|
|
|
NM_000388.4(CASR):c.186-8T>C
|
rs2107627408
|
|
NM_000388.4(CASR):c.1860C>G (p.Ala620=)
|
rs141522130
|
|
NM_000388.4(CASR):c.1861G>C (p.Val621Leu)
|
|
|
NM_000388.4(CASR):c.1864C>T (p.Leu622=)
|
|
|
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp)
|
rs2107649545
|
|
NM_000388.4(CASR):c.1868G>C (p.Gly623Ala)
|
rs2107649545
|
|
NM_000388.4(CASR):c.1868del (p.Gly623fs)
|
rs2074923990
|
|
NM_000388.4(CASR):c.186G>A (p.Arg62=)
|
rs1414007336
|
|
NM_000388.4(CASR):c.1876C>A (p.Leu626Met)
|
rs2107649551
|
|
NM_000388.4(CASR):c.1878G>A (p.Leu626=)
|
|
|
NM_000388.4(CASR):c.1880C>A (p.Thr627Lys)
|
rs2074924073
|
|
NM_000388.4(CASR):c.1880C>T (p.Thr627Ile)
|
rs2074924073
|
|
NM_000388.4(CASR):c.1884C>T (p.Ala628=)
|
|
|
NM_000388.4(CASR):c.1884del (p.Phe629fs)
|
rs193922429
|
|
NM_000388.4(CASR):c.1888G>A (p.Val630Met)
|
rs1559968392
|
|
NM_000388.4(CASR):c.1888G>C (p.Val630Leu)
|
rs1559968392
|
|
NM_000388.4(CASR):c.1888G>T (p.Val630Leu)
|
|
|
NM_000388.4(CASR):c.188A>G (p.Tyr63Cys)
|
rs1291192328
|
|
NM_000388.4(CASR):c.1891C>G (p.Leu631Val)
|
rs755874864
|
|
NM_000388.4(CASR):c.1891C>T (p.Leu631=)
|
|
|
NM_000388.4(CASR):c.1893G>A (p.Leu631=)
|
rs2107649583
|
|
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser)
|
rs2074924501
|
|
NM_000388.4(CASR):c.1898T>A (p.Val633Glu)
|
|
|
NM_000388.4(CASR):c.1898T>G (p.Val633Gly)
|
|
|
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)
|
rs2074924614
|
|
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)
|
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.1902dup (p.Ile635fs)
|
|
|
NM_000388.4(CASR):c.1903A>C (p.Ile635Leu)
|
rs2074924739
|
|
NM_000388.4(CASR):c.1903A>G (p.Ile635Val)
|
rs2074924739
|
|
NM_000388.4(CASR):c.1906A>T (p.Lys636Ter)
|
|
|
NM_000388.4(CASR):c.1908G>A (p.Lys636=)
|
|
|
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)
|
rs2107627423
|
|
NM_000388.4(CASR):c.1911C>G (p.Phe637Leu)
|
rs2074924937
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
NM_000388.4(CASR):c.1914C>A (p.Arg638=)
|
|
|
NM_000388.4(CASR):c.1916A>G (p.Asn639Ser)
|
rs1559968444
|
|
NM_000388.4(CASR):c.1916A>T (p.Asn639Ile)
|
|
|
NM_000388.4(CASR):c.1918A>G (p.Thr640Ala)
|
|
|
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys)
|
rs1559968450
|
|
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile)
|
rs1559968450
|
|
NM_000388.4(CASR):c.1925T>C (p.Ile642Thr)
|
rs2107649633
|
|
NM_000388.4(CASR):c.1927G>A (p.Val643Ile)
|
|
|
NM_000388.4(CASR):c.192T>C (p.Asn64=)
|
|
|
NM_000388.4(CASR):c.1932G>A (p.Lys644=)
|
|
|
NM_000388.4(CASR):c.1935C>T (p.Ala645=)
|
|
|
NM_000388.4(CASR):c.1936A>G (p.Thr646Ala)
|
rs200113544
|
|
NM_000388.4(CASR):c.193T>A (p.Phe65Ile)
|
|
|
NM_000388.4(CASR):c.1941C>A (p.Asn647Lys)
|
|
|
NM_000388.4(CASR):c.1941C>T (p.Asn647=)
|
|
|
NM_000388.4(CASR):c.1942C>A (p.Arg648=)
|
rs104893705
|
|
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly)
|
|
|
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
|
rs104893705
|
|
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln)
|
rs757736220
|
|
NM_000388.4(CASR):c.1944A>C (p.Arg648=)
|
rs2074925850
|
|
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe)
|
rs1553768963
|
|
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro)
|
rs2107649656
|
|
NM_000388.4(CASR):c.1951T>C (p.Ser651Pro)
|
rs2074926028
|
|
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr)
|
rs2074926080
|
|
NM_000388.4(CASR):c.1952C>T (p.Ser651Phe)
|
rs2074926080
|
|
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe)
|
rs1553768964
|
|
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe)
|
rs1553768966
|
|
NM_000388.4(CASR):c.1962C>T (p.Leu654=)
|
rs746231094
|
|
NM_000388.4(CASR):c.1963C>G (p.Leu655Val)
|
|
|
NM_000388.4(CASR):c.1965C>G (p.Leu655=)
|
rs1339304346
|
|
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu)
|
rs2074926557
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
NM_000388.4(CASR):c.1972C>A (p.Leu658Met)
|
rs201609857
|
|
NM_000388.4(CASR):c.1972C>T (p.Leu658=)
|
|
|
NM_000388.4(CASR):c.1972del (p.Leu658fs)
|
rs1553768972
|
|
NM_000388.4(CASR):c.1974G>A (p.Leu658=)
|
|
|
NM_000388.4(CASR):c.1977C>G (p.Leu659=)
|
rs1576877263
|
|
NM_000388.4(CASR):c.1977C>T (p.Leu659=)
|
rs1576877263
|
|
NM_000388.4(CASR):c.197G>A (p.Arg66His)
|
rs1276839362
|
|
NM_000388.4(CASR):c.197G>T (p.Arg66Leu)
|
rs1276839362
|
|
NM_000388.4(CASR):c.1981T>A (p.Cys661Ser)
|
rs2107649710
|
|
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)
|
rs2074926931
|
|
NM_000388.4(CASR):c.1984T>G (p.Phe662Val)
|
|
|
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr)
|
rs2074927053
|
|
NM_000388.4(CASR):c.1998G>C (p.Leu666=)
|
|
|
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu)
|
rs1576877276
|
|
NM_000388.4(CASR):c.1999TTC[1] (p.Phe668del)
|
rs2074927295
|
|
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)
|
rs1559956508
|
|
NM_000388.4(CASR):c.1A>G (p.Met1Val)
|
rs2107624704
|
|
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser)
|
rs2074927361
|
|
NM_000388.4(CASR):c.2004C>T (p.Phe668=)
|
rs2107649757
|
|
NM_000388.4(CASR):c.2005A>C (p.Ile669Leu)
|
rs1576877284
|
|
NM_000388.4(CASR):c.2005A>G (p.Ile669Val)
|
rs1576877284
|
|
NM_000388.4(CASR):c.2006T>C (p.Ile669Thr)
|
rs2107649763
|
|
NM_000388.4(CASR):c.2007C>T (p.Ile669=)
|
rs967478601
|
|
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)
|
rs2074927550
|
|
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)
|
rs2074927550
|
|
NM_000388.4(CASR):c.2009G>T (p.Gly670Val)
|
rs104893700
|
|
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs)
|
rs2074927630
|
|
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)
|
rs193922431
|
|
NM_000388.4(CASR):c.2014C>T (p.Pro672Ser)
|
rs193922431
|
|
NM_000388.4(CASR):c.2015C>G (p.Pro672Arg)
|
rs2107649789
|
|
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
|
|
|
NM_000388.4(CASR):c.2018A>G (p.Gln673Arg)
|
rs1576877306
|
|
NM_000388.4(CASR):c.2019G>C (p.Gln673His)
|
rs2107649800
|
|
NM_000388.4(CASR):c.2021A>T (p.Asp674Val)
|
rs2107649801
|
|
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu)
|
rs1576877311
|
|
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg)
|
rs2107649805
|
|
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter)
|
|
|
NM_000388.4(CASR):c.2026A>T (p.Thr676Ser)
|
rs2074927990
|
|
NM_000388.4(CASR):c.2027C>T (p.Thr676Met)
|
rs768204447
|
|
NM_000388.4(CASR):c.2028G>C (p.Thr676=)
|
|
|
NM_000388.4(CASR):c.2030del (p.Cys677fs)
|
rs2107649818
|
|
NM_000388.4(CASR):c.2033G>A (p.Arg678His)
|
rs1278025825
|
|
NM_000388.4(CASR):c.2036T>C (p.Leu679Pro)
|
rs1553768983
|
|
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)
|
rs1553768983
|
|
NM_000388.4(CASR):c.2043G>T (p.Gln681His)
|
rs121909261
|
|
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)
|
rs1553768989
|
|
NM_000388.4(CASR):c.2045del (p.Pro682fs)
|
|
|
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)
|
|
|
NM_000388.4(CASR):c.2049C>A (p.Ala683=)
|
|
|
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000388.4(CASR):c.2054G>C (p.Gly685Ala)
|
rs1576877377
|
|
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)
|
rs753013993
|
|
NM_000388.4(CASR):c.2058C>T (p.Ile686=)
|
rs2107649875
|
|
NM_000388.4(CASR):c.205C>T (p.Arg69Cys)
|
rs1313627454
|
|
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg)
|
rs2074930161
|
|
NM_000388.4(CASR):c.2063T>C (p.Phe688Ser)
|
|
|
NM_000388.4(CASR):c.2063T>G (p.Phe688Cys)
|
|
|
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu)
|
rs150869744
|
|
NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met)
|
|
|
NM_000388.4(CASR):c.2065G>A (p.Val689Met)
|
rs2107649885
|
|
NM_000388.4(CASR):c.2068C>T (p.Leu690Phe)
|
rs1467832380
|
|
NM_000388.4(CASR):c.2072G>C (p.Cys691Ser)
|
|
|
NM_000388.4(CASR):c.2074A>G (p.Ile692Val)
|
|
|
NM_000388.4(CASR):c.2076C>T (p.Ile692=)
|
rs1553768999
|
|
NM_000388.4(CASR):c.2079A>C (p.Ser693=)
|
|
|
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup)
|
rs1553769002
|
|
NM_000388.4(CASR):c.2084T>C (p.Ile695Thr)
|
rs2107649915
|
|
NM_000388.4(CASR):c.2085C>G (p.Ile695Met)
|
rs2074930623
|
|
NM_000388.4(CASR):c.2087T>A (p.Leu696Gln)
|
rs2107649925
|
|
NM_000388.4(CASR):c.2095A>C (p.Thr699Pro)
|
|
|
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile)
|
rs2107649929
|
|
NM_000388.4(CASR):c.2097C>T (p.Thr699=)
|
rs1576877434
|
|
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser)
|
rs1576877437
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
NM_000388.4(CASR):c.209G>C (p.Trp70Ser)
|
|
|
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr)
|
rs2074528024
|
|
NM_000388.4(CASR):c.20G>C (p.Cys7Ser)
|
rs2074528024
|
|
NM_000388.4(CASR):c.20G>T (p.Cys7Phe)
|
rs2074528024
|
|
NM_000388.4(CASR):c.2100C>T (p.Asn700=)
|
|
|
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)
|
rs757302986
|
|
NM_000388.4(CASR):c.2105T>C (p.Val702Ala)
|
rs1559968643
|
|
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro)
|
rs886043656
|
|
NM_000388.4(CASR):c.2109C>G (p.Leu703=)
|
|
|
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)
|
rs1559968657
|
|
NM_000388.4(CASR):c.2113_2115del (p.Val705del)
|
|
|
NM_000388.4(CASR):c.2114T>C (p.Val705Ala)
|
|
|
NM_000388.4(CASR):c.2114_2122del (p.Val705_Glu707del)
|
|
|
NM_000388.4(CASR):c.2118T>C (p.Phe706=)
|
|
|
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr)
|
rs2074931493
|
|
NM_000388.4(CASR):c.2127G>A (p.Lys709=)
|
|
|
NM_000388.4(CASR):c.2130C>A (p.Ile710=)
|
|
|
NM_000388.4(CASR):c.2130C>T (p.Ile710=)
|
rs2107649987
|
|
NM_000388.4(CASR):c.2130_2131delinsAA (p.Pro711Thr)
|
rs2074931664
|
|
NM_000388.4(CASR):c.2131C>T (p.Pro711Ser)
|
|
|
NM_000388.4(CASR):c.2135C>G (p.Thr712Ser)
|
rs746383651
|
|
NM_000388.4(CASR):c.213A>G (p.Leu71=)
|
|
|
NM_000388.4(CASR):c.2143C>A (p.His715Asn)
|
rs2074932182
|
|
NM_000388.4(CASR):c.2143C>T (p.His715Tyr)
|
rs2074932182
|
|
NM_000388.4(CASR):c.2146C>G (p.Arg716Gly)
|
rs768333005
|
|
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys)
|
rs768333005
|
|
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro)
|
rs201670662
|
|
NM_000388.4(CASR):c.2148C>T (p.Arg716=)
|
rs2107650027
|
|
NM_000388.4(CASR):c.2148dup (p.Lys717fs)
|
rs2107650029
|
|
NM_000388.4(CASR):c.2151G>C (p.Lys717Asn)
|
|
|
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu)
|
rs961879608
|
|
NM_000388.4(CASR):c.2154G>C (p.Trp718Cys)
|
rs2074932551
|
|
NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)
|
rs2107650046
|
|
NM_000388.4(CASR):c.2158G>A (p.Gly720Arg)
|
rs2074932631
|
|
NM_000388.4(CASR):c.2159G>A (p.Gly720Glu)
|
|
|
NM_000388.4(CASR):c.2160G>A (p.Gly720=)
|
rs1447996348
|
|
NM_000388.4(CASR):c.2163C>T (p.Leu721=)
|
rs1427860271
|
|
NM_000388.4(CASR):c.2167C>T (p.Leu723=)
|
rs2107650065
|
|
NM_000388.4(CASR):c.2168T>G (p.Leu723Arg)
|
rs2107650069
|
|
NM_000388.4(CASR):c.2179C>T (p.Leu727=)
|
rs1177992998
|
|
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)
|
rs104893718
|
|
NM_000388.4(CASR):c.2181G>A (p.Leu727=)
|
|
|
NM_000388.4(CASR):c.2182G>A (p.Val728Ile)
|
rs1576877587
|
|
NM_000388.4(CASR):c.2182G>C (p.Val728Leu)
|
rs1576877587
|
|
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
|
|
|
NM_000388.4(CASR):c.2184T>A (p.Val728=)
|
|
|
NM_000388.4(CASR):c.2185T>C (p.Phe729Leu)
|
|
|
NM_000388.4(CASR):c.2187C>T (p.Phe729=)
|
|
|
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe)
|
|
|
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser)
|
|
|
NM_000388.4(CASR):c.2193C>T (p.Cys731=)
|
|
|
NM_000388.4(CASR):c.2194A>G (p.Thr732Ala)
|
rs1576877607
|
|
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu)
|
rs1576877611
|
|
NM_000388.4(CASR):c.21C>T (p.Cys7=)
|
rs1381043518
|
|
NM_000388.4(CASR):c.2200A>T (p.Met734Leu)
|
rs1286818613
|
|
NM_000388.4(CASR):c.2202G>A (p.Met734Ile)
|
rs542541990
|
|
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)
|
rs1553769052
|
|
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro)
|
|
|
NM_000388.4(CASR):c.220A>G (p.Met74Val)
|
rs745377913
|
|
NM_000388.4(CASR):c.2211C>T (p.Val737=)
|
|
|
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)
|
rs759337909
|
|
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser)
|
rs375468610
|
|
NM_000388.4(CASR):c.2229C>G (p.Leu743=)
|
rs372578790
|
|
NM_000388.4(CASR):c.2229C>T (p.Leu743=)
|
rs372578790
|
|
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe)
|
rs751816764
|
|
NM_000388.4(CASR):c.2235C>G (p.Thr745=)
|
rs201702964
|
|
NM_000388.4(CASR):c.2235C>T (p.Thr745=)
|
rs201702964
|
|
NM_000388.4(CASR):c.2238G>A (p.Ala746=)
|
rs149557554
|
|
NM_000388.4(CASR):c.2238G>T (p.Ala746=)
|
rs149557554
|
|
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala)
|
rs1576877692
|
|
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
|
|
|
NM_000388.4(CASR):c.2241C>G (p.Pro747=)
|
rs1559968833
|
|
NM_000388.4(CASR):c.2242C>T (p.Pro748Ser)
|
rs2074934184
|
|
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)
|
rs193922433
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu)
|
rs193922433
|
|
NM_000388.4(CASR):c.2244G>A (p.Pro748=)
|
rs2036400
|
|
NM_000388.4(CASR):c.2244G>T (p.Pro748=)
|
rs2036400
|
|
NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala)
|
rs2107650178
|
|
NM_000388.4(CASR):c.2244del (p.Ser749fs)
|
|
|
NM_000388.4(CASR):c.2247A>C (p.Ser749=)
|
|
|
NM_000388.4(CASR):c.2248A>G (p.Ser750Gly)
|
|
|
NM_000388.4(CASR):c.224T>C (p.Ile75Thr)
|
rs2107627470
|
|
NM_000388.4(CASR):c.2250C>A (p.Ser750Arg)
|
rs1559968879
|
|
NM_000388.4(CASR):c.2253C>T (p.Tyr751=)
|
|
|
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser)
|
rs193922434
|
|
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly)
|
rs193922434
|
|
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys)
|
rs193922434
|
|
NM_000388.4(CASR):c.2254del (p.Arg752fs)
|
rs2107650195
|
|
NM_000388.4(CASR):c.2255G>C (p.Arg752Pro)
|
rs771529256
|
|
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro)
|
rs777361297
|
|
NM_000388.4(CASR):c.2262G>A (p.Gln754=)
|
rs1487359017
|
|
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly)
|
rs2074935054
|
|
NM_000388.4(CASR):c.2265G>A (p.Glu755=)
|
rs201366240
|
|
NM_000388.4(CASR):c.2268G>A (p.Leu756=)
|
rs2107650239
|
|
NM_000388.4(CASR):c.2269G>A (p.Glu757Lys)
|
rs2074935149
|
|
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn)
|
|
|
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys)
|
|
|
NM_000388.4(CASR):c.2278A>G (p.Ile760Val)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2280C>A (p.Ile760=)
|
rs1553769074
|
|
NM_000388.4(CASR):c.2280C>G (p.Ile760Met)
|
rs1553769074
|
|
NM_000388.4(CASR):c.2281A>C (p.Ile761Leu)
|
|
|
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)
|
|
|
NM_000388.4(CASR):c.2282T>C (p.Ile761Thr)
|
|
|
NM_000388.4(CASR):c.2287A>C (p.Ile763Leu)
|
|
|
NM_000388.4(CASR):c.2288T>G (p.Ile763Ser)
|
|
|
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro)
|
rs2074935297
|
|
NM_000388.4(CASR):c.2291C>T (p.Thr764Met)
|
|
|
NM_000388.4(CASR):c.2292G>A (p.Thr764=)
|
rs199615189
|
|
NM_000388.4(CASR):c.2292G>C (p.Thr764=)
|
rs199615189
|
|
NM_000388.4(CASR):c.2292G>T (p.Thr764=)
|
|
|
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg)
|
rs1363412937
|
|
NM_000388.4(CASR):c.2296C>A (p.His766Asn)
|
rs776652154
|
|
NM_000388.4(CASR):c.2296C>T (p.His766Tyr)
|
rs776652154
|
|
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs)
|
rs2107650280
|
|
NM_000388.4(CASR):c.2298C>G (p.His766Gln)
|
|
|
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)
|
rs2074935748
|
|
NM_000388.4(CASR):c.229G>T (p.Ala77Ser)
|
rs2074562595
|
|
NM_000388.4(CASR):c.2300A>C (p.Glu767Ala)
|
rs2107650290
|
|
NM_000388.4(CASR):c.2304C>G (p.Gly768=)
|
rs1576877799
|
|
NM_000388.4(CASR):c.2315C>T (p.Ala772Val)
|
rs1336598166
|
|
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)
|
rs104893699
|
|
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
|
|
|
NM_000388.4(CASR):c.2322C>A (p.Gly774=)
|
|
|
NM_000388.4(CASR):c.2323T>G (p.Phe775Val)
|
|
|
NM_000388.4(CASR):c.2324T>C (p.Phe775Ser)
|
|
|
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu)
|
rs767586088
|
|
NM_000388.4(CASR):c.2326C>T (p.Leu776=)
|
|
|
NM_000388.4(CASR):c.2329A>C (p.Ile777Leu)
|
rs2074936383
|
|
NM_000388.4(CASR):c.2330T>C (p.Ile777Thr)
|
|
|
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg)
|
rs1479933693
|
|
NM_000388.4(CASR):c.2332G>T (p.Gly778Cys)
|
|
|
NM_000388.4(CASR):c.2333G>A (p.Gly778Asp)
|
rs2074936560
|
|
NM_000388.4(CASR):c.2337C>T (p.Tyr779=)
|
|
|
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn)
|
rs754332943
|
|
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser)
|
rs754332943
|
|
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile)
|
rs754332943
|
|
NM_000388.4(CASR):c.233T>C (p.Ile78Thr)
|
rs2074562667
|
|
NM_000388.4(CASR):c.2341T>A (p.Cys781Ser)
|
rs2107650358
|
|
NM_000388.4(CASR):c.2343C>T (p.Cys781=)
|
rs1553769084
|
|
NM_000388.4(CASR):c.2346G>C (p.Leu782=)
|
|
|
NM_000388.4(CASR):c.2347C>T (p.Leu783=)
|
|
|
NM_000388.4(CASR):c.2349G>A (p.Leu783=)
|
rs2074937009
|
|
NM_000388.4(CASR):c.2358C>T (p.Ile786=)
|
rs2107650380
|
|
NM_000388.4(CASR):c.235G>A (p.Glu79Lys)
|
rs2074562715
|
|
NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)
|
|
|
NM_000388.4(CASR):c.2361C>T (p.Cys787=)
|
rs1211380440
|
|
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)
|
rs104893711
|
|
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser)
|
|
|
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)
|
rs104893701
|
|
NM_000388.4(CASR):c.2366T>C (p.Phe789Ser)
|
|
|
NM_000388.4(CASR):c.2368T>C (p.Phe790Leu)
|
|
|
NM_000388.4(CASR):c.2369T>G (p.Phe790Cys)
|
|
|
NM_000388.4(CASR):c.2370T>G (p.Phe790Leu)
|
|
|
NM_000388.4(CASR):c.2373C>T (p.Ala791=)
|
rs1553769095
|
|
NM_000388.4(CASR):c.2378A>T (p.Lys793Met)
|
|
|
NM_000388.4(CASR):c.2379G>A (p.Lys793=)
|
rs2107650412
|
|
NM_000388.4(CASR):c.237G>A (p.Glu79=)
|
rs2074562746
|
|
NM_000388.4(CASR):c.237G>C (p.Glu79Asp)
|
rs2074562746
|
|
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)
|
|
|
NM_000388.4(CASR):c.2382C>T (p.Ser794=)
|
|
|
NM_000388.4(CASR):c.2383C>G (p.Arg795Gly)
|
rs121909258
|
|
NM_000388.4(CASR):c.2384G>A (p.Arg795Gln)
|
|
|
NM_000388.4(CASR):c.2384G>C (p.Arg795Pro)
|
|
|
NM_000388.4(CASR):c.2384G>T (p.Arg795Leu)
|
rs549975115
|
|
NM_000388.4(CASR):c.2389C>A (p.Leu797Met)
|
rs866506433
|
|
NM_000388.4(CASR):c.2389C>T (p.Leu797=)
|
|
|
NM_000388.4(CASR):c.238G>C (p.Glu80Gln)
|
|
|
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg)
|
rs1060502856
|
|
NM_000388.4(CASR):c.2394G>A (p.Pro798=)
|
rs1353910174
|
|
NM_000388.4(CASR):c.2397G>A (p.Glu799=)
|
|
|
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp)
|
rs752953216
|
|
NM_000388.4(CASR):c.239A>C (p.Glu80Ala)
|
rs1576854303
|
|
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp)
|
rs2074937924
|
|
NM_000388.4(CASR):c.2406T>C (p.Asn802=)
|
|
|
NM_000388.4(CASR):c.2409A>G (p.Glu803=)
|
|
|
NM_000388.4(CASR):c.2410G>A (p.Ala804Thr)
|
rs777219967
|
|
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg)
|
|
|
NM_000388.4(CASR):c.2415G>A (p.Lys805=)
|
rs1467118491
|
|
NM_000388.4(CASR):c.2415del (p.Lys805fs)
|
rs2107650472
|
|
NM_000388.4(CASR):c.2417T>A (p.Phe806Tyr)
|
rs104893693
|
|
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)
|
rs104893693
|
|
NM_000388.4(CASR):c.2417T>G (p.Phe806Cys)
|
rs104893693
|
|
NM_000388.4(CASR):c.2418C>T (p.Phe806=)
|
rs2107650480
|
|
NM_000388.4(CASR):c.2421C>T (p.Ile807=)
|
rs1559969145
|
|
NM_000388.4(CASR):c.2425T>A (p.Phe809Ile)
|
rs2074938402
|
|
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)
|
rs2074938472
|
|
NM_000388.4(CASR):c.2429G>C (p.Ser810Thr)
|
|
|
NM_000388.4(CASR):c.2431A>G (p.Met811Val)
|
rs1057521129
|
|
NM_000388.4(CASR):c.2434C>T (p.Leu812Phe)
|
rs1385228926
|
|
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)
|
rs193922435
|
|
NM_000388.4(CASR):c.2436C>G (p.Leu812=)
|
|
|
NM_000388.4(CASR):c.2439C>A (p.Ile813=)
|
|
|
NM_000388.4(CASR):c.2439C>T (p.Ile813=)
|
rs1228810304
|
|
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
|
|
|
NM_000388.4(CASR):c.2444T>C (p.Phe815Ser)
|
|
|
NM_000388.4(CASR):c.2446A>G (p.Ile816Val)
|
rs2107650518
|
|
NM_000388.4(CASR):c.2448C>A (p.Ile816=)
|
rs781343891
|
|
NM_000388.4(CASR):c.2448C>G (p.Ile816Met)
|
rs781343891
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2449G>C (p.Val817Leu)
|
rs1057518933
|
|
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
|
|
|
NM_000388.4(CASR):c.2451C>T (p.Val817=)
|
|
|
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys)
|
|
|
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala)
|
rs2074939020
|
|
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)
|
rs104893710
|
|
NM_000388.4(CASR):c.2460C>T (p.Ser820=)
|
|
|
NM_000388.4(CASR):c.2461T>G (p.Phe821Val)
|
rs2074939089
|
|
NM_000388.4(CASR):c.2464A>G (p.Ile822Val)
|
rs2074939118
|
|
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr)
|
rs1553769120
|
|
NM_000388.4(CASR):c.2466T>C (p.Ile822=)
|
|
|
NM_000388.4(CASR):c.246C>G (p.Asn82Lys)
|
|
|
NM_000388.4(CASR):c.2470G>A (p.Ala824Thr)
|
rs2107650576
|
|
NM_000388.4(CASR):c.2470G>C (p.Ala824Pro)
|
|
|
NM_000388.4(CASR):c.2471C>G (p.Ala824Gly)
|
rs2074939274
|
|
NM_000388.4(CASR):c.2471C>T (p.Ala824Val)
|
rs2074939274
|
|
NM_000388.4(CASR):c.2472C>T (p.Ala824=)
|
rs2107650582
|
|
NM_000388.4(CASR):c.2475T>C (p.Tyr825=)
|
|
|
NM_000388.4(CASR):c.2477C>G (p.Ala826Gly)
|
rs2074939465
|
|
NM_000388.4(CASR):c.2477C>T (p.Ala826Val)
|
rs2074939465
|
|
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)
|
rs794729230
|
|
NM_000388.4(CASR):c.2484C>A (p.Thr828=)
|
|
|
NM_000388.4(CASR):c.2487T>C (p.Tyr829=)
|
rs2107650596
|
|
NM_000388.4(CASR):c.2490C>A (p.Gly830=)
|
|
|
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser)
|
rs2107650603
|
|
NM_000388.4(CASR):c.2496T>C (p.Phe832=)
|
rs2074939583
|
|
NM_000388.4(CASR):c.2497G>C (p.Val833Leu)
|
rs1187496835
|
|
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)
|
rs2074939751
|
|
NM_000388.4(CASR):c.2503G>C (p.Ala835Pro)
|
rs2074939751
|
|
NM_000388.4(CASR):c.2505C>A (p.Ala835=)
|
|
|
NM_000388.4(CASR):c.2506G>A (p.Val836Ile)
|
|
|
NM_000388.4(CASR):c.2506G>C (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2508A>G (p.Val836=)
|
|
|
NM_000388.4(CASR):c.2509G>A (p.Glu837Lys)
|
|
|
NM_000388.4(CASR):c.250A>C (p.Ser84Arg)
|
rs1559956545
|
|
NM_000388.4(CASR):c.2511G>A (p.Glu837=)
|
rs2107650636
|
|
NM_000388.4(CASR):c.2511G>T (p.Glu837Asp)
|
|
|
NM_000388.4(CASR):c.2513T>C (p.Val838Ala)
|
|
|
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)
|
rs2107650645
|
|
NM_000388.4(CASR):c.2518del (p.Ala840fs)
|
|
|
NM_000388.4(CASR):c.2519C>T (p.Ala840Val)
|
rs1553769127
|
|
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe)
|
|
|
NM_000388.4(CASR):c.2525T>C (p.Leu842Pro)
|
|
|
NM_000388.4(CASR):c.2526G>A (p.Leu842=)
|
rs1457253066
|
|
NM_000388.4(CASR):c.2526G>T (p.Leu842=)
|
|
|
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)
|
rs104893706
|
|
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr)
|
|
|
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg)
|
rs1576878096
|
|
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs)
|
rs2107650671
|
|
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn)
|
|
|
NM_000388.4(CASR):c.2535C>T (p.Ser845=)
|
|
|
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser)
|
|
|
NM_000388.4(CASR):c.2545C>T (p.Leu849=)
|
|
|
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
|
|
|
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro)
|
rs2074940343
|
|
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu)
|
rs373819680
|
|
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
|
rs373819680
|
|
NM_000388.4(CASR):c.2549C>T (p.Ala850Val)
|
|
|
NM_000388.4(CASR):c.254C>T (p.Pro85Leu)
|
|
|
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
|
|
|
NM_000388.4(CASR):c.2556C>T (p.Ile852=)
|
rs1172993116
|
|
NM_000388.4(CASR):c.2559C>G (p.Phe853Leu)
|
rs2074940685
|
|
NM_000388.4(CASR):c.2560T>A (p.Phe854Ile)
|
rs565491972
|
|
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser)
|
rs2074940832
|
|
NM_000388.4(CASR):c.2565C>G (p.Asn855Lys)
|
|
|
NM_000388.4(CASR):c.2565C>T (p.Asn855=)
|
rs760806852
|
|
NM_000388.4(CASR):c.2568G>A (p.Lys856=)
|
|
|
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
|
rs766445416
|
|
NM_000388.4(CASR):c.2570T>G (p.Ile857Ser)
|
rs766445416
|
|
NM_000388.4(CASR):c.2575A>C (p.Ile859Leu)
|
rs1576878156
|
|
NM_000388.4(CASR):c.2575A>G (p.Ile859Val)
|
|
|
NM_000388.4(CASR):c.2576T>A (p.Ile859Asn)
|
rs2107650756
|
|
NM_000388.4(CASR):c.2581C>G (p.Leu861Val)
|
rs2074941334
|
|
NM_000388.4(CASR):c.2582T>C (p.Leu861Pro)
|
|
|
NM_000388.4(CASR):c.2583C>T (p.Leu861=)
|
rs2107650764
|
|
NM_000388.4(CASR):c.2589G>A (p.Lys863=)
|
|
|
NM_000388.4(CASR):c.258C>A (p.Ala86=)
|
rs1060504736
|
|
NM_000388.4(CASR):c.2592A>G (p.Pro864=)
|
|
|
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys)
|
rs2074941438
|
|
NM_000388.4(CASR):c.2594C>T (p.Ser865Phe)
|
rs2074941438
|
|
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys)
|
rs1576878170
|
|
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro)
|
rs387907401
|
|
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu)
|
rs387907401
|
|
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu)
|
rs1553769144
|
|
NM_000388.4(CASR):c.2598C>T (p.Arg866=)
|
rs2107650803
|
|
NM_000388.4(CASR):c.25G>T (p.Val9Phe)
|
|
|
NM_000388.4(CASR):c.2604C>G (p.Thr868=)
|
rs957447440
|
|
NM_000388.4(CASR):c.2604C>T (p.Thr868=)
|
rs957447440
|
|
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
|
|
|
NM_000388.4(CASR):c.2614G>A (p.Val872Met)
|
|
|
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys)
|
rs2074941878
|
|
NM_000388.4(CASR):c.2618G>A (p.Arg873His)
|
|
|
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro)
|
rs2107650838
|
|
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg)
|
rs2107650843
|
|
NM_000388.4(CASR):c.2625C>T (p.Ser875=)
|
rs1313041878
|
|
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs)
|
|
|
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile)
|
rs1576878212
|
|
NM_000388.4(CASR):c.2628C>A (p.Thr876=)
|
|
|
NM_000388.4(CASR):c.2628C>G (p.Thr876=)
|
|
|
NM_000388.4(CASR):c.2628C>T (p.Thr876=)
|
rs758631679
|
|
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr)
|
rs2107650865
|
|
NM_000388.4(CASR):c.2631A>C (p.Ala877=)
|
|
|
NM_000388.4(CASR):c.2637C>A (p.His879Gln)
|
rs1576878230
|
|
NM_000388.4(CASR):c.2637C>G (p.His879Gln)
|
rs1576878230
|
|
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro)
|
rs763865303
|
|
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)
|
rs104893704
|
|
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)
|
rs193922437
|
|
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg)
|
rs1553769162
|
|
NM_000388.4(CASR):c.264T>C (p.Leu88=)
|
rs2107627524
|
|
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser)
|
|
|
NM_000388.4(CASR):c.2651del (p.Ala884fs)
|
|
|
NM_000388.4(CASR):c.2652T>G (p.Ala884=)
|
|
|
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
|
|
|
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)
|
rs1559969429
|
|
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln)
|
rs1057520791
|
|
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)
|
rs1057520791
|
|
NM_000388.4(CASR):c.2658G>A (p.Arg886=)
|
rs2074942754
|
|
NM_000388.4(CASR):c.2658G>T (p.Arg886=)
|
|
|
NM_000388.4(CASR):c.2659G>A (p.Ala887Thr)
|
|
|
NM_000388.4(CASR):c.265C>A (p.Pro89Thr)
|
rs2074563203
|
|
NM_000388.4(CASR):c.2660C>A (p.Ala887Asp)
|
|
|
NM_000388.4(CASR):c.2663C>T (p.Thr888Met)
|
|
|
NM_000388.4(CASR):c.2664G>A (p.Thr888=)
|
rs751165754
|
|
NM_000388.4(CASR):c.2664G>C (p.Thr888=)
|
rs751165754
|
|
NM_000388.4(CASR):c.2664G>T (p.Thr888=)
|
rs751165754
|
|
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs)
|
rs1576878270
|
|
NM_000388.4(CASR):c.266C>G (p.Pro89Arg)
|
|
|
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys)
|
rs1360294910
|
|
NM_000388.4(CASR):c.267C>T (p.Pro89=)
|
rs2107627535
|
|
NM_000388.4(CASR):c.2680G>C (p.Val894Leu)
|
rs200883282
|
|
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)
|
rs1553769169
|
|
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys)
|
rs1553769171
|
|
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)
|
rs749125441
|
|
NM_000388.4(CASR):c.2686del (p.Arg896fs)
|
rs193922438
|
|
NM_000388.4(CASR):c.2688C>A (p.Arg896=)
|
rs1037117955
|
|
NM_000388.4(CASR):c.2692C>T (p.Arg898Trp)
|
rs747205055
|
|
NM_000388.4(CASR):c.2696C>G (p.Ser899Cys)
|
rs2107651026
|
|
NM_000388.4(CASR):c.269A>G (p.Asn90Ser)
|
|
|
NM_000388.4(CASR):c.26T>A (p.Val9Asp)
|
|
|
NM_000388.4(CASR):c.2702G>A (p.Ser901Asn)
|
|
|
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg)
|
|
|
NM_000388.4(CASR):c.2709A>G (p.Gly903=)
|
rs1576878358
|
|
NM_000388.4(CASR):c.270C>T (p.Asn90=)
|
rs201944670
|
|
NM_000388.4(CASR):c.2712C>T (p.Gly904=)
|
rs1027208202
|
|
NM_000388.4(CASR):c.2713T>C (p.Ser905Pro)
|
rs2107651054
|
|
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe)
|
rs1559969541
|
|
NM_000388.4(CASR):c.2717C>A (p.Thr906Lys)
|
rs200357435
|
|
NM_000388.4(CASR):c.271T>C (p.Leu91=)
|
rs200375728
|
|
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala)
|
rs1559969557
|
|
NM_000388.4(CASR):c.2726C>A (p.Thr909Asn)
|
rs201067523
|
|
NM_000388.4(CASR):c.2726C>G (p.Thr909Ser)
|
|
|
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile)
|
|
|
NM_000388.4(CASR):c.2727C>G (p.Thr909=)
|
|
|
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg)
|
rs1219288084
|
|
NM_000388.4(CASR):c.2730C>T (p.Pro910=)
|
rs34200949
|
|
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer)
|
|
|
NM_000388.4(CASR):c.2736C>T (p.Ser912=)
|
rs764332910
|
|
NM_000388.4(CASR):c.2739C>A (p.Ser913=)
|
rs2074944827
|
|
NM_000388.4(CASR):c.2739C>T (p.Ser913=)
|
rs2074944827
|
|
NM_000388.4(CASR):c.273G>A (p.Leu91=)
|
|
|
NM_000388.4(CASR):c.273G>C (p.Leu91Phe)
|
rs2107627555
|
|
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn)
|
|
|
NM_000388.4(CASR):c.2741T>C (p.Ile914Thr)
|
rs2074944863
|
|
NM_000388.4(CASR):c.2742C>T (p.Ile914=)
|
rs539528196
|
|
NM_000388.4(CASR):c.2744G>C (p.Ser915Thr)
|
rs2107651117
|
|
NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer)
|
|
|
NM_000388.4(CASR):c.2749A>G (p.Lys917Glu)
|
|
|
NM_000388.4(CASR):c.2750A>G (p.Lys917Arg)
|
|
|
NM_000388.4(CASR):c.2759G>A (p.Ser920Asn)
|
rs767241288
|
|
NM_000388.4(CASR):c.2760C>T (p.Ser920=)
|
rs749958063
|
|
NM_000388.4(CASR):c.2763A>G (p.Glu921=)
|
|
|
NM_000388.4(CASR):c.276G>T (p.Thr92=)
|
rs201013419
|
|
NM_000388.4(CASR):c.2770T>C (p.Phe924Leu)
|
rs778591886
|
|
NM_000388.4(CASR):c.2770T>G (p.Phe924Val)
|
|
|
NM_000388.4(CASR):c.2771T>C (p.Phe924Ser)
|
|
|
NM_000388.4(CASR):c.2772C>T (p.Phe924=)
|
|
|
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter)
|
rs2107651172
|
|
NM_000388.4(CASR):c.277C>T (p.Leu93=)
|
rs201153680
|
|
NM_000388.4(CASR):c.2780C>T (p.Pro927Leu)
|
|
|
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup)
|
rs1576878469
|
|
NM_000388.4(CASR):c.2781C>G (p.Pro927=)
|
rs771142444
|
|
NM_000388.4(CASR):c.2781C>T (p.Pro927=)
|
|
|
NM_000388.4(CASR):c.2783A>G (p.Glu928Gly)
|
|
|
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp)
|
|
|
NM_000388.4(CASR):c.2785A>G (p.Arg929Gly)
|
|
|
NM_000388.4(CASR):c.2788C>G (p.Gln930Glu)
|
rs2074945839
|
|
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
|
|
|
NM_000388.4(CASR):c.2792AGC[6] (p.Gln934_Pro935insGlnGln)
|
|
|
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu)
|
rs2107651215
|
|
NM_000388.4(CASR):c.2795A>C (p.Gln932Pro)
|
|
|
NM_000388.4(CASR):c.2801A>C (p.Gln934Pro)
|
|
|
NM_000388.4(CASR):c.2803C>T (p.Pro935Ser)
|
|
|
NM_000388.4(CASR):c.2804C>T (p.Pro935Leu)
|
rs201950717
|
|
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)
|
rs2074946020
|
|
NM_000388.4(CASR):c.2805G>A (p.Pro935=)
|
rs1358539214
|
|
NM_000388.4(CASR):c.2805G>C (p.Pro935=)
|
|
|
NM_000388.4(CASR):c.2810C>T (p.Ala937Val)
|
|
|
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile)
|
rs2074946372
|
|
NM_000388.4(CASR):c.2814A>C (p.Leu938=)
|
rs2107651263
|
|
NM_000388.4(CASR):c.2817C>T (p.Thr939=)
|
rs1576878565
|
|
NM_000388.4(CASR):c.2818C>T (p.Gln940Ter)
|
rs1576878568
|
|
NM_000388.4(CASR):c.281G>A (p.Gly94Glu)
|
rs1576854356
|
|
NM_000388.4(CASR):c.2821C>G (p.Gln941Glu)
|
rs2107651279
|
|
NM_000388.4(CASR):c.2825AGC[4] (p.Gln946del)
|
|
|
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup)
|
rs747740545
|
|
NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln)
|
|
|
NM_000388.4(CASR):c.2826G>A (p.Glu942=)
|
rs2107651299
|
|
NM_000388.4(CASR):c.2826G>T (p.Glu942Asp)
|
rs2107651299
|
|
NM_000388.4(CASR):c.282A>G (p.Gly94=)
|
|
|
NM_000388.4(CASR):c.282A>T (p.Gly94=)
|
|
|
NM_000388.4(CASR):c.2830C>A (p.Gln944Lys)
|
rs2107651308
|
|
NM_000388.4(CASR):c.2830C>T (p.Gln944Ter)
|
|
|
NM_000388.4(CASR):c.2831A>G (p.Gln944Arg)
|
|
|
NM_000388.4(CASR):c.2833C>A (p.Gln945Lys)
|
rs2107651317
|
|
NM_000388.4(CASR):c.2840C>A (p.Pro947His)
|
rs767292478
|
|
NM_000388.4(CASR):c.2840_2860dup (p.Pro947_Gln953dup)
|
rs2074946815
|
|
NM_000388.4(CASR):c.2841C>G (p.Pro947=)
|
rs1553769221
|
|
NM_000388.4(CASR):c.2842_2880dup (p.Leu948_Pro960dup)
|
rs1559969726
|
|
NM_000388.4(CASR):c.2844G>C (p.Leu948=)
|
rs140586950
|
|
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala)
|
|
|
NM_000388.4(CASR):c.2846C>A (p.Thr949Asn)
|
|
|
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys)
|
rs1060502850
|
|
NM_000388.4(CASR):c.2852C>G (p.Pro951Arg)
|
|
|
NM_000388.4(CASR):c.2852C>T (p.Pro951Leu)
|
|
|
NM_000388.4(CASR):c.2853A>G (p.Pro951=)
|
|
|
NM_000388.4(CASR):c.2856G>A (p.Gln952=)
|
rs2074947335
|
|
NM_000388.4(CASR):c.2863C>T (p.Arg955Ter)
|
rs2074947445
|
|
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln)
|
rs866599196
|
|
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala)
|
rs1559969778
|
|
NM_000388.4(CASR):c.2867C>A (p.Ser956Tyr)
|
rs2074947543
|
|
NM_000388.4(CASR):c.286A>C (p.Arg96=)
|
rs2107627583
|
|
NM_000388.4(CASR):c.2870AGC[2] (p.Gln959del)
|
rs2107651405
|
|
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys)
|
rs2074947724
|
|
NM_000388.4(CASR):c.2874G>A (p.Gln958=)
|
rs2074947758
|
|
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys)
|
rs2107651420
|
|
NM_000388.4(CASR):c.2877del (p.Gln959fs)
|
rs2107651423
|
|
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser)
|
rs1352202616
|
|
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)
|
|
|
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly)
|
rs2074947830
|
|
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg)
|
|
|
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs)
|
|
|
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn)
|
rs1060502859
|
|
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn)
|
|
|
NM_000388.4(CASR):c.288G>A (p.Arg96=)
|
rs375151193
|
|
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu)
|
rs2074948026
|
|
NM_000388.4(CASR):c.2895G>A (p.Lys965=)
|
rs1251254766
|
|
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn)
|
rs1251254766
|
|
NM_000388.4(CASR):c.2898C>T (p.Val966=)
|
rs1576878768
|
|
NM_000388.4(CASR):c.28C>A (p.Leu10Ile)
|
rs1327682547
|
|
NM_000388.4(CASR):c.28C>T (p.Leu10Phe)
|
rs1327682547
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
NM_000388.4(CASR):c.2901C>T (p.Ile967=)
|
rs199594582
|
|
NM_000388.4(CASR):c.2903T>C (p.Phe968Ser)
|
rs2107651496
|
|
NM_000388.4(CASR):c.2904T>C (p.Phe968=)
|
rs769965955
|
|
NM_000388.4(CASR):c.2904T>G (p.Phe968Leu)
|
|
|
NM_000388.4(CASR):c.2904_2924del (p.Gly969_Phe975del)
|
rs2074948607
|
|
NM_000388.4(CASR):c.2905G>A (p.Gly969Ser)
|
|
|
NM_000388.4(CASR):c.2909G>A (p.Ser970Asn)
|
|
|
NM_000388.4(CASR):c.2910C>T (p.Ser970=)
|
rs200686461
|
|
NM_000388.4(CASR):c.2912_2913delinsTT (p.Gly971Val)
|
|
|
NM_000388.4(CASR):c.2915C>G (p.Thr972Arg)
|
|
|
NM_000388.4(CASR):c.2919C>A (p.Val973=)
|
|
|
NM_000388.4(CASR):c.291A>G (p.Ile97Met)
|
rs1370844938
|
|
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr)
|
rs2074563967
|
|
NM_000388.4(CASR):c.293T>C (p.Phe98Ser)
|
rs2074563967
|
|
NM_000388.4(CASR):c.2942A>T (p.Glu981Val)
|
rs766653315
|
|
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr)
|
rs387907395
|
|
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg)
|
|
|
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg)
|
rs878853975
|
|
NM_000388.4(CASR):c.2949G>A (p.Gln983=)
|
|
|
NM_000388.4(CASR):c.2949GAA[1] (p.Lys984del)
|
|
|
NM_000388.4(CASR):c.294T>G (p.Phe98Leu)
|
rs878853976
|
|
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg)
|
rs1553769261
|
|
NM_000388.4(CASR):c.2952G>A (p.Lys984=)
|
rs2107651573
|
|
NM_000388.4(CASR):c.2952G>C (p.Lys984Asn)
|
|
|
NM_000388.4(CASR):c.2955_2956delinsTT (p.Ala986Ser)
|
rs2107651579
|
|
NM_000388.4(CASR):c.2956G>A (p.Ala986Thr)
|
rs1801725
|
|
NM_000388.4(CASR):c.2957C>A (p.Ala986Asp)
|
rs1268409560
|
|
NM_000388.4(CASR):c.2959A>G (p.Met987Val)
|
rs2107651596
|
|
NM_000388.4(CASR):c.2960T>G (p.Met987Arg)
|
rs2074949750
|
|
NM_000388.4(CASR):c.2961G>A (p.Met987Ile)
|
|
|
NM_000388.4(CASR):c.2963C>T (p.Ala988Val)
|
|
|
NM_000388.4(CASR):c.296A>T (p.Asp99Val)
|
rs2107627605
|
|
NM_000388.4(CASR):c.2971A>C (p.Asn991His)
|
rs1553769276
|
|
NM_000388.4(CASR):c.2973T>A (p.Asn991Lys)
|
|
|
NM_000388.4(CASR):c.2973T>C (p.Asn991=)
|
rs1257108488
|
|
NM_000388.4(CASR):c.2976T>C (p.Ser992=)
|
rs2107651635
|
|
NM_000388.4(CASR):c.2979G>A (p.Thr993=)
|
rs917914806
|
|
NM_000388.4(CASR):c.2979G>C (p.Thr993=)
|
|
|
NM_000388.4(CASR):c.2980C>T (p.His994Tyr)
|
rs1559969980
|
|
NM_000388.4(CASR):c.2981A>C (p.His994Pro)
|
|
|
NM_000388.4(CASR):c.2983C>A (p.Gln995Lys)
|
|
|
NM_000388.4(CASR):c.2985G>C (p.Gln995His)
|
rs201341173
|
|
NM_000388.4(CASR):c.2986A>C (p.Asn996His)
|
rs2074950435
|
|
NM_000388.4(CASR):c.298A>T (p.Thr100Ser)
|
rs1433686492
|
|
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)
|
rs1244383237
|
|
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys)
|
rs1244383237
|
|
NM_000388.4(CASR):c.2990C>T (p.Ser997Phe)
|
|
|
NM_000388.4(CASR):c.2993T>A (p.Leu998Gln)
|
|
|
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys)
|
rs2074950648
|
|
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala)
|
rs201052958
|
|
NM_000388.4(CASR):c.2996A>G (p.Glu999Gly)
|
rs201052958
|
|
NM_000388.4(CASR):c.2996A>T (p.Glu999Val)
|
rs201052958
|
|
NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr)
|
|
|
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
|
|
|
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
|
|
|
NM_000388.4(CASR):c.3000C>G (p.Ala1000=)
|
rs2107651678
|
|
NM_000388.4(CASR):c.3001C>G (p.Gln1001Glu)
|
rs756322971
|
|
NM_000388.4(CASR):c.3001C>T (p.Gln1001Ter)
|
|
|
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro)
|
rs1176923284
|
|
NM_000388.4(CASR):c.3004A>C (p.Lys1002Gln)
|
rs1467916973
|
|
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu)
|
rs1467916973
|
|
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn)
|
rs2074950882
|
|
NM_000388.4(CASR):c.300T>G (p.Thr100=)
|
rs2107627615
|
|
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg)
|
rs780255825
|
|
NM_000388.4(CASR):c.3010A>T (p.Ser1004Cys)
|
rs780255825
|
|
NM_000388.4(CASR):c.3013G>C (p.Asp1005His)
|
rs201990892
|
|
NM_000388.4(CASR):c.3018G>T (p.Thr1006=)
|
rs748637478
|
|
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln)
|
rs200238591
|
|
NM_000388.4(CASR):c.3021G>T (p.Leu1007=)
|
|
|
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)
|
|
|
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly)
|
rs1256856876
|
|
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)
|
rs1256856876
|
|
NM_000388.4(CASR):c.3029A>G (p.His1010Arg)
|
rs547957679
|
|
NM_000388.4(CASR):c.302G>C (p.Cys101Ser)
|
|
|
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln)
|
rs386665242
|
|
NM_000388.4(CASR):c.3033G>A (p.Glu1011=)
|
|
|
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr)
|
rs763977493
|
|
NM_000388.4(CASR):c.3034C>G (p.Pro1012Ala)
|
|
|
NM_000388.4(CASR):c.3035C>A (p.Pro1012Gln)
|
rs1576879134
|
|
NM_000388.4(CASR):c.3036A>G (p.Pro1012=)
|
|
|
NM_000388.4(CASR):c.303C>A (p.Cys101Ter)
|
|
|
NM_000388.4(CASR):c.303C>T (p.Cys101=)
|
rs754033243
|
|
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile)
|
rs202219108
|
|
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
|
rs202219108
|
|
NM_000388.4(CASR):c.3042C>A (p.Leu1014=)
|
rs1576879144
|
|
NM_000388.4(CASR):c.3042C>G (p.Leu1014=)
|
rs1576879144
|
|
NM_000388.4(CASR):c.3042C>T (p.Leu1014=)
|
rs1576879144
|
|
NM_000388.4(CASR):c.3044del (p.Pro1015fs)
|
rs2074952162
|
|
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro)
|
rs755151413
|
|
NM_000388.4(CASR):c.3048G>A (p.Leu1016=)
|
|
|
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro)
|
rs779116209
|
|
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
|
|
|
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly)
|
|
|
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu)
|
|
|
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln)
|
rs1060502858
|
|
NM_000388.4(CASR):c.3058del (p.Glu1020fs)
|
|
|
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys)
|
rs759009566
|
|
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg)
|
rs759009566
|
|
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met)
|
rs759009566
|
|
NM_000388.4(CASR):c.3063G>A (p.Thr1021=)
|
rs193922440
|
|
NM_000388.4(CASR):c.3063G>C (p.Thr1021=)
|
rs193922440
|
|
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn)
|
rs2107651862
|
|
NM_000388.4(CASR):c.3069A>G (p.Leu1023=)
|
|
|
NM_000388.4(CASR):c.306C>T (p.Asn102=)
|
|
|
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr)
|
rs2107651875
|
|
NM_000388.4(CASR):c.3072T>C (p.Asp1024=)
|
|
|
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val)
|
|
|
NM_000388.4(CASR):c.3078C>A (p.Thr1026=)
|
rs771319302
|
|
NM_000388.4(CASR):c.3082C>T (p.Gln1028Ter)
|
rs1290267062
|
|
NM_000388.4(CASR):c.3082del (p.Gln1028fs)
|
rs2107651889
|
|
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg)
|
rs2074953171
|
|
NM_000388.4(CASR):c.3085G>A (p.Glu1029Lys)
|
rs2107651900
|
|
NM_000388.4(CASR):c.3086A>C (p.Glu1029Ala)
|
rs2107651904
|
|
NM_000388.4(CASR):c.3086A>G (p.Glu1029Gly)
|
|
|
NM_000388.4(CASR):c.3087A>T (p.Glu1029Asp)
|
rs200786703
|
|
NM_000388.4(CASR):c.3088A>G (p.Thr1030Ala)
|
rs2074953253
|
|
NM_000388.4(CASR):c.3088dup (p.Thr1030fs)
|
rs2107651905
|
|
NM_000388.4(CASR):c.3089C>G (p.Thr1030Arg)
|
rs2107651914
|
|
NM_000388.4(CASR):c.3089C>T (p.Thr1030Ile)
|
|
|
NM_000388.4(CASR):c.3090A>G (p.Thr1030=)
|
|
|
NM_000388.4(CASR):c.3093T>A (p.Gly1031=)
|
|
|
NM_000388.4(CASR):c.3093T>C (p.Gly1031=)
|
rs1576879215
|
|
NM_000388.4(CASR):c.3096G>A (p.Leu1032=)
|
|
|
NM_000388.4(CASR):c.3096G>T (p.Leu1032=)
|
rs2107651933
|
|
NM_000388.4(CASR):c.309C>G (p.Thr103=)
|
|
|
NM_000388.4(CASR):c.309C>T (p.Thr103=)
|
rs373057548
|
|
NM_000388.4(CASR):c.3100G>A (p.Gly1034Arg)
|
|
|
NM_000388.4(CASR):c.3104C>A (p.Pro1035His)
|
|
|
NM_000388.4(CASR):c.3106G>A (p.Val1036Met)
|
|
|
NM_000388.4(CASR):c.310G>A (p.Val104Ile)
|
rs2074564250
|
|
NM_000388.4(CASR):c.3112G>T (p.Gly1038Ter)
|
rs764032437
|
|
NM_000388.4(CASR):c.3114A>G (p.Gly1038=)
|
rs2107651950
|
|
NM_000388.4(CASR):c.3118C>T (p.Gln1040Ter)
|
rs1007139212
|
|
NM_000388.4(CASR):c.3120G>A (p.Gln1040=)
|
|
|
NM_000388.4(CASR):c.3120G>T (p.Gln1040His)
|
rs2107651962
|
|
NM_000388.4(CASR):c.3121C>A (p.Arg1041=)
|
rs193921082
|
|
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln)
|
rs761580803
|
|
NM_000388.4(CASR):c.3124C>G (p.Pro1042Ala)
|
rs2074953862
|
|
NM_000388.4(CASR):c.3124C>T (p.Pro1042Ser)
|
rs2074953862
|
|
NM_000388.4(CASR):c.3133G>A (p.Glu1045Lys)
|
rs2074954067
|
|
NM_000388.4(CASR):c.3135G>A (p.Glu1045=)
|
|
|
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp)
|
rs765519865
|
|
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu)
|
rs878853977
|
|
NM_000388.4(CASR):c.3138C>T (p.Asp1046=)
|
rs878853977
|
|
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys)
|
rs758535387
|
|
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter)
|
rs2107652017
|
|
NM_000388.4(CASR):c.3150G>A (p.Leu1050=)
|
|
|
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe)
|
rs2107652019
|
|
NM_000388.4(CASR):c.3153C>T (p.Ser1051=)
|
rs1576879292
|
|
NM_000388.4(CASR):c.315T>C (p.Ser105=)
|
rs2107627628
|
|
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile)
|
rs1245761983
|
|
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu)
|
rs2074954670
|
|
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala)
|
|
|
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr)
|
rs1553769334
|
|
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro)
|
|
|
NM_000388.4(CASR):c.316A>G (p.Lys106Glu)
|
|
|
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly)
|
rs2074954886
|
|
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
|
|
|
NM_000388.4(CASR):c.3180G>C (p.Gln1060His)
|
rs2107652073
|
|
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn)
|
rs2074954983
|
|
NM_000388.4(CASR):c.318G>A (p.Lys106=)
|
|
|
NM_000388.4(CASR):c.3190A>G (p.Ile1064Val)
|
rs2107652087
|
|
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn)
|
rs999978032
|
|
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val)
|
rs769439564
|
|
NM_000388.4(CASR):c.3199G>A (p.Gly1067Arg)
|
|
|
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
|
|
|
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu)
|
rs2107652105
|
|
NM_000388.4(CASR):c.3201A>G (p.Gly1067=)
|
rs146918302
|
|
NM_000388.4(CASR):c.3203G>A (p.Gly1068Asp)
|
rs1193543664
|
|
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)
|
|
|
NM_000388.4(CASR):c.3204C>G (p.Gly1068=)
|
rs373902031
|
|
NM_000388.4(CASR):c.3204C>T (p.Gly1068=)
|
rs373902031
|
|
NM_000388.4(CASR):c.3207del (p.Ser1069fs)
|
rs2107652125
|
|
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile)
|
rs1576879357
|
|
NM_000388.4(CASR):c.3215C>T (p.Thr1072Ile)
|
rs2107652135
|
|
NM_000388.4(CASR):c.3216A>C (p.Thr1072=)
|
rs1259584809
|
|
NM_000388.4(CASR):c.321C>T (p.Ala107=)
|
|
|
NM_000388.4(CASR):c.3221del (p.Asn1074fs)
|
rs2074955500
|
|
NM_000388.4(CASR):c.3222C>T (p.Asn1074=)
|
|
|
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile)
|
rs748855270
|
|
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)
|
rs748855270
|
|
NM_000388.4(CASR):c.3224T>C (p.Val1075Ala)
|
rs2107652158
|
|
NM_000388.4(CASR):c.322T>C (p.Leu108=)
|
rs1553766241
|
|
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.3236A>G (p.Ter1079=)
|
rs1060504735
|
|
NM_000388.4(CASR):c.323T>C (p.Leu108Ser)
|
rs1553766242
|
|
NM_000388.4(CASR):c.328G>C (p.Ala110Pro)
|
|
|
NM_000388.4(CASR):c.329C>A (p.Ala110Asp)
|
rs1559956624
|
|
NM_000388.4(CASR):c.329C>T (p.Ala110Val)
|
|
|
NM_000388.4(CASR):c.335T>C (p.Leu112Pro)
|
rs2107627647
|
|
NM_000388.4(CASR):c.33G>A (p.Leu11=)
|
rs1302047092
|
|
NM_000388.4(CASR):c.341T>C (p.Phe114Ser)
|
rs1553766245
|
|
NM_000388.4(CASR):c.345T>C (p.Val115=)
|
|
|
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)
|
rs104893691
|
|
NM_000388.4(CASR):c.347C>G (p.Ala116Gly)
|
|
|
NM_000388.4(CASR):c.349C>T (p.Gln117Ter)
|
rs2107627659
|
|
NM_000388.4(CASR):c.350A>C (p.Gln117Pro)
|
rs2074564685
|
|
NM_000388.4(CASR):c.352A>G (p.Asn118Asp)
|
|
|
NM_000388.4(CASR):c.354C>A (p.Asn118Lys)
|
rs104893695
|
|
NM_000388.4(CASR):c.354C>T (p.Asn118=)
|
rs104893695
|
|
NM_000388.4(CASR):c.357_358del (p.Lys119fs)
|
rs2107627671
|
|
NM_000388.4(CASR):c.360T>G (p.Ile120Met)
|
rs1576854465
|
|
NM_000388.4(CASR):c.361G>C (p.Asp121His)
|
rs2074564785
|
|
NM_000388.4(CASR):c.363T>C (p.Asp121=)
|
|
|
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr)
|
rs778201006
|
|
NM_000388.4(CASR):c.365C>T (p.Ser122Phe)
|
|
|
NM_000388.4(CASR):c.367T>A (p.Leu123Met)
|
rs2107627702
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
|
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.375TGA[1] (p.Asp126del)
|
|
|
NM_000388.4(CASR):c.377A>T (p.Asp126Val)
|
rs1553766257
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
|
rs121909260
|
|
NM_000388.4(CASR):c.380A>G (p.Glu127Gly)
|
rs121909260
|
|
NM_000388.4(CASR):c.381G>A (p.Glu127=)
|
rs2074565277
|
|
NM_000388.4(CASR):c.382T>A (p.Phe128Ile)
|
rs104893696
|
|
NM_000388.4(CASR):c.382T>C (p.Phe128Leu)
|
rs104893696
|
|
NM_000388.4(CASR):c.384C>G (p.Phe128Leu)
|
rs1553766262
|
|
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)
|
rs2074565392
|
|
NM_000388.4(CASR):c.38T>C (p.Leu13Pro)
|
rs104893717
|
|
NM_000388.4(CASR):c.394T>A (p.Ser132Thr)
|
|
|
NM_000388.4(CASR):c.395C>T (p.Ser132Leu)
|
rs1060502857
|
|
NM_000388.4(CASR):c.396A>G (p.Ser132=)
|
rs1060504737
|
|
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)
|
rs1559956683
|
|
NM_000388.4(CASR):c.399G>C (p.Glu133Asp)
|
|
|
NM_000388.4(CASR):c.400C>T (p.His134Tyr)
|
rs2074565597
|
|
NM_000388.4(CASR):c.402C>T (p.His134=)
|
|
|
NM_000388.4(CASR):c.408C>T (p.Pro136=)
|
|
|
NM_000388.4(CASR):c.411T>C (p.Ser137=)
|
|
|
NM_000388.4(CASR):c.412A>G (p.Thr138Ala)
|
|
|
NM_000388.4(CASR):c.413C>G (p.Thr138Arg)
|
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.414G>A (p.Thr138=)
|
rs984531247
|
|
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)
|
rs1060502860
|
|
NM_000388.4(CASR):c.41C>A (p.Thr14Asn)
|
rs1235999733
|
|
NM_000388.4(CASR):c.41C>T (p.Thr14Ile)
|
rs1235999733
|
|
NM_000388.4(CASR):c.420T>C (p.Ala140=)
|
rs2107627779
|
|
NM_000388.4(CASR):c.421G>A (p.Val141Met)
|
|
|
NM_000388.4(CASR):c.423G>A (p.Val141=)
|
rs2074565871
|
|
NM_000388.4(CASR):c.426G>A (p.Val142=)
|
rs201839033
|
|
NM_000388.4(CASR):c.426G>C (p.Val142=)
|
rs201839033
|
|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)
|
rs121909264
|
|
NM_000388.4(CASR):c.42C>T (p.Thr14=)
|
rs2107624779
|
|
NM_000388.4(CASR):c.42_48del (p.Trp15fs)
|
|
|
NM_000388.4(CASR):c.434C>T (p.Thr145Ile)
|
|
|
NM_000388.4(CASR):c.437G>A (p.Gly146Asp)
|
rs2107627807
|
|
NM_000388.4(CASR):c.441A>G (p.Ser147=)
|
rs908914926
|
|
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
|
|
|
NM_000388.4(CASR):c.446T>C (p.Val149Ala)
|
|
|
NM_000388.4(CASR):c.448_449dup (p.Thr151fs)
|
rs1576854561
|
|
NM_000388.4(CASR):c.449C>T (p.Ser150Phe)
|
rs1559956735
|
|
NM_000388.4(CASR):c.450C>T (p.Ser150=)
|
|
|
NM_000388.4(CASR):c.452C>T (p.Thr151Met)
|
rs104893694
|
|
NM_000388.4(CASR):c.456A>G (p.Ala152=)
|
rs201137966
|
|
NM_000388.4(CASR):c.457G>A (p.Val153Met)
|
|
|
NM_000388.4(CASR):c.458T>A (p.Val153Glu)
|
|
|
NM_000388.4(CASR):c.459G>C (p.Val153=)
|
rs2107627855
|
|
NM_000388.4(CASR):c.460G>A (p.Ala154Thr)
|
|
|
NM_000388.4(CASR):c.460G>C (p.Ala154Pro)
|
rs1559956753
|
|
NM_000388.4(CASR):c.462A>T (p.Ala154=)
|
|
|
NM_000388.4(CASR):c.463A>G (p.Asn155Asp)
|
rs1553766282
|
|
NM_000388.4(CASR):c.464A>T (p.Asn155Ile)
|
|
|
NM_000388.4(CASR):c.465T>C (p.Asn155=)
|
rs2074566629
|
|
NM_000388.4(CASR):c.467T>C (p.Leu156Pro)
|
rs2107627878
|
|
NM_000388.4(CASR):c.46C>T (p.His16Tyr)
|
|
|
NM_000388.4(CASR):c.473G>A (p.Gly158Glu)
|
rs2074566747
|
|
NM_000388.4(CASR):c.474G>C (p.Gly158=)
|
rs892809123
|
|
NM_000388.4(CASR):c.474G>T (p.Gly158=)
|
rs892809123
|
|
NM_000388.4(CASR):c.475C>G (p.Leu159Val)
|
rs767329910
|
|
NM_000388.4(CASR):c.479T>C (p.Phe160Ser)
|
rs2074566896
|
|
NM_000388.4(CASR):c.484A>G (p.Ile162Val)
|
|
|
NM_000388.4(CASR):c.486T>C (p.Ile162=)
|
rs776784152
|
|
NM_000388.4(CASR):c.489C>T (p.Pro163=)
|
|
|
NM_000388.4(CASR):c.491A>G (p.Gln164Arg)
|
rs2074567065
|
|
NM_000388.4(CASR):c.492+10C>T
|
rs906977634
|
|
NM_000388.4(CASR):c.492+13T>G
|
rs148131335
|
|
NM_000388.4(CASR):c.492+18_492+19delinsCA
|
rs2107627947
|
|
NM_000388.4(CASR):c.492+19_492+20delinsAA
|
rs2107627953
|
|
NM_000388.4(CASR):c.492+19_492+20delinsAG
|
rs2107627953
|
|
NM_000388.4(CASR):c.492+19_492+20delinsAT
|
rs2107627953
|
|
NM_000388.4(CASR):c.492+2T>C
|
|
|
NM_000388.4(CASR):c.492+4C>T
|
|
|
NM_000388.4(CASR):c.492+6C>T
|
rs765346357
|
|
NM_000388.4(CASR):c.492+8A>C
|
|
|
NM_000388.4(CASR):c.492+8A>G
|
|
|
NM_000388.4(CASR):c.492G>A (p.Gln164=)
|
rs2107627922
|
|
NM_000388.4(CASR):c.493-10T>C
|
|
|
NM_000388.4(CASR):c.493-12G>A
|
rs199514129
|
|
NM_000388.4(CASR):c.493-12G>T
|
rs199514129
|
|
NM_000388.4(CASR):c.493-17T>G
|
rs2107631652
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
NM_000388.4(CASR):c.493-2A>G
|
rs1576857818
|
|
NM_000388.4(CASR):c.493-4C>T
|
rs2107631674
|
|
NM_000388.4(CASR):c.493G>A (p.Val165Ile)
|
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.495C>T (p.Val165=)
|
|
|
NM_000388.4(CASR):c.496A>C (p.Ser166Arg)
|
rs193922441
|
|
NM_000388.4(CASR):c.496A>G (p.Ser166Gly)
|
rs193922441
|
|
NM_000388.4(CASR):c.497G>A (p.Ser166Asn)
|
|
|
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp)
|
rs1064795096
|
|
NM_000388.4(CASR):c.501T>A (p.Tyr167Ter)
|
rs387907394
|
|
NM_000388.4(CASR):c.501T>C (p.Tyr167=)
|
rs387907394
|
|
NM_000388.4(CASR):c.502G>T (p.Ala168Ser)
|
rs1471755600
|
|
NM_000388.4(CASR):c.503C>A (p.Ala168Asp)
|
rs1576857840
|
|
NM_000388.4(CASR):c.503C>T (p.Ala168Val)
|
rs1576857840
|
|
NM_000388.4(CASR):c.505T>C (p.Ser169Pro)
|
rs1553766709
|
|
NM_000388.4(CASR):c.507C>G (p.Ser169=)
|
rs2107631712
|
|
NM_000388.4(CASR):c.507C>T (p.Ser169=)
|
rs2107631712
|
|
NM_000388.4(CASR):c.508T>C (p.Ser170Pro)
|
rs1060502862
|
|
NM_000388.4(CASR):c.50C>T (p.Thr17Ile)
|
rs1424489717
|
|
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
|
|
|
NM_000388.4(CASR):c.513C>A (p.Ser171Arg)
|
rs764149433
|
|
NM_000388.4(CASR):c.513C>T (p.Ser171=)
|
|
|
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)
|
rs201851934
|
|
NM_000388.4(CASR):c.516A>T (p.Arg172Ser)
|
rs1114167368
|
|
NM_000388.4(CASR):c.519C>T (p.Leu173=)
|
|
|
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
|
|
|
NM_000388.4(CASR):c.522C>G (p.Leu174=)
|
rs2107631739
|
|
NM_000388.4(CASR):c.523A>G (p.Ser175Gly)
|
rs2107631742
|
|
NM_000388.4(CASR):c.524G>A (p.Ser175Asn)
|
|
|
NM_000388.4(CASR):c.527A>G (p.Asn176Ser)
|
rs1060502849
|
|
NM_000388.4(CASR):c.528C>A (p.Asn176Lys)
|
rs762352492
|
|
NM_000388.4(CASR):c.528C>T (p.Asn176=)
|
rs762352492
|
|
NM_000388.4(CASR):c.528del (p.Asn176fs)
|
rs2107631756
|
|
NM_000388.4(CASR):c.531G>T (p.Lys177Asn)
|
rs2074621897
|
|
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)
|
rs1060502855
|
|
NM_000388.4(CASR):c.532A>T (p.Asn178Tyr)
|
rs1060502855
|
|
NM_000388.4(CASR):c.534T>A (p.Asn178Lys)
|
|
|
NM_000388.4(CASR):c.536A>G (p.Gln179Arg)
|
rs878928634
|
|
NM_000388.4(CASR):c.539T>G (p.Phe180Cys)
|
rs121909268
|
|
NM_000388.4(CASR):c.540C>T (p.Phe180=)
|
|
|
NM_000388.4(CASR):c.543G>A (p.Lys181=)
|
rs2074622150
|
|
NM_000388.4(CASR):c.545C>G (p.Ser182Cys)
|
|
|
NM_000388.4(CASR):c.545C>T (p.Ser182Phe)
|
rs1576857952
|
|
NM_000388.4(CASR):c.547_548del (p.Phe183fs)
|
rs2107631801
|
|
NM_000388.4(CASR):c.549C>G (p.Phe183Leu)
|
rs779857648
|
|
NM_000388.4(CASR):c.549C>T (p.Phe183=)
|
|
|
NM_000388.4(CASR):c.54T>G (p.Ser18=)
|
rs558522564
|
|
NM_000388.4(CASR):c.550C>G (p.Leu184Val)
|
rs1576857982
|
|
NM_000388.4(CASR):c.550C>T (p.Leu184Phe)
|
rs1576857982
|
|
NM_000388.4(CASR):c.551T>G (p.Leu184Arg)
|
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)
|
rs104893689
|
|
NM_000388.4(CASR):c.554del (p.Arg185fs)
|
rs193922442
|
|
NM_000388.4(CASR):c.555A>T (p.Arg185=)
|
rs1576858013
|
|
NM_000388.4(CASR):c.558C>A (p.Thr186=)
|
|
|
NM_000388.4(CASR):c.558C>T (p.Thr186=)
|
|
|
NM_000388.4(CASR):c.55G>C (p.Ala19Pro)
|
rs2074528751
|
|
NM_000388.4(CASR):c.560T>A (p.Ile187Asn)
|
|
|
NM_000388.4(CASR):c.560T>C (p.Ile187Thr)
|
|
|
NM_000388.4(CASR):c.562C>A (p.Pro188Thr)
|
rs778535491
|
|
NM_000388.4(CASR):c.564C>A (p.Pro188=)
|
|
|
NM_000388.4(CASR):c.565A>C (p.Asn189His)
|
rs2107631843
|
|
NM_000388.4(CASR):c.566A>T (p.Asn189Ile)
|
rs762998933
|
|
NM_000388.4(CASR):c.566_567delinsTC (p.Asn189Ile)
|
|
|
NM_000388.4(CASR):c.567T>C (p.Asn189=)
|
rs2074622837
|
|
NM_000388.4(CASR):c.568G>A (p.Asp190Asn)
|
|
|
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)
|
|
|
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)
|
rs104893697
|
|
NM_000388.4(CASR):c.574C>A (p.His192Asn)
|
rs2107631878
|
|
NM_000388.4(CASR):c.576C>G (p.His192Gln)
|
|
|
NM_000388.4(CASR):c.577C>A (p.Gln193Lys)
|
|
|
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)
|
rs1064793992
|
|
NM_000388.4(CASR):c.587C>T (p.Ala196Val)
|
rs1553766728
|
|
NM_000388.4(CASR):c.589A>C (p.Met197Leu)
|
|
|
NM_000388.4(CASR):c.590T>A (p.Met197Lys)
|
rs774235352
|
|
NM_000388.4(CASR):c.590T>G (p.Met197Arg)
|
rs774235352
|
|
NM_000388.4(CASR):c.591G>A (p.Met197Ile)
|
|
|
NM_000388.4(CASR):c.594A>G (p.Ala198=)
|
rs1369140529
|
|
NM_000388.4(CASR):c.597C>T (p.Asp199=)
|
|
|
NM_000388.4(CASR):c.603C>T (p.Ile201=)
|
rs770651757
|
|
NM_000388.4(CASR):c.604G>A (p.Glu202Lys)
|
rs1430623191
|
|
NM_000388.4(CASR):c.610T>A (p.Phe204Ile)
|
rs1060499700
|
|
NM_000388.4(CASR):c.610T>C (p.Phe204Leu)
|
rs1060499700
|
|
NM_000388.4(CASR):c.613C>G (p.Arg205Gly)
|
rs775751453
|
|
NM_000388.4(CASR):c.614G>C (p.Arg205Pro)
|
rs763162046
|
|
NM_000388.4(CASR):c.614G>T (p.Arg205Leu)
|
rs763162046
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000388.4(CASR):c.621C>T (p.Asn207=)
|
rs2107631955
|
|
NM_000388.4(CASR):c.621del (p.Trp208fs)
|
|
|
NM_000388.4(CASR):c.623G>C (p.Trp208Ser)
|
rs2074623917
|
|
NM_000388.4(CASR):c.626T>C (p.Val209Ala)
|
|
|
NM_000388.4(CASR):c.628G>T (p.Gly210Cys)
|
rs2107631971
|
|
NM_000388.4(CASR):c.630C>G (p.Gly210=)
|
rs1340558108
|
|
NM_000388.4(CASR):c.632C>T (p.Thr211Ile)
|
rs2074624103
|
|
NM_000388.4(CASR):c.633A>G (p.Thr211=)
|
rs2107631986
|
|
NM_000388.4(CASR):c.634A>G (p.Ile212Val)
|
rs2074624132
|
|
NM_000388.4(CASR):c.635T>C (p.Ile212Thr)
|
rs1576858127
|
|
NM_000388.4(CASR):c.636T>C (p.Ile212=)
|
rs1226146501
|
|
NM_000388.4(CASR):c.638C>T (p.Ala213Val)
|
rs1559958979
|
|
NM_000388.4(CASR):c.63G>A (p.Gly21=)
|
rs966820424
|
|
NM_000388.4(CASR):c.63G>C (p.Gly21=)
|
rs966820424
|
|
NM_000388.4(CASR):c.641C>G (p.Ala214Gly)
|
|
|
NM_000388.4(CASR):c.643G>A (p.Asp215Asn)
|
|
|
NM_000388.4(CASR):c.643G>C (p.Asp215His)
|
rs1553731681
|
|
NM_000388.4(CASR):c.646G>A (p.Asp216Asn)
|
rs768766649
|
|
NM_000388.4(CASR):c.648C>T (p.Asp216=)
|
rs774470582
|
|
NM_000388.4(CASR):c.652T>A (p.Tyr218Asn)
|
|
|
NM_000388.4(CASR):c.652T>C (p.Tyr218His)
|
rs1057520583
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.654T>C (p.Tyr218=)
|
rs1576858172
|
|
NM_000388.4(CASR):c.655G>T (p.Gly219Trp)
|
rs2107632049
|
|
NM_000388.4(CASR):c.658C>A (p.Arg220=)
|
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)
|
rs1202110240
|
|
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)
|
|
|
NM_000388.4(CASR):c.660G>T (p.Arg220=)
|
|
|
NM_000388.4(CASR):c.662C>A (p.Pro221Gln)
|
rs397514728
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.665G>A (p.Gly222Glu)
|
|
|
NM_000388.4(CASR):c.666G>A (p.Gly222=)
|
rs2107632070
|
|
NM_000388.4(CASR):c.666del (p.Ile223fs)
|
rs2107632061
|
|
NM_000388.4(CASR):c.66A>G (p.Pro22=)
|
rs2107624825
|
|
NM_000388.4(CASR):c.672G>C (p.Glu224Asp)
|
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.67G>A (p.Asp23Asn)
|
rs2107624826
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000388.4(CASR):c.684G>A (p.Glu228=)
|
rs1173197457
|
|
NM_000388.4(CASR):c.686A>C (p.Glu229Ala)
|
rs2074625376
|
|
NM_000388.4(CASR):c.688G>A (p.Ala230Thr)
|
|
|
NM_000388.4(CASR):c.689C>T (p.Ala230Val)
|
rs2107632113
|
|
NM_000388.4(CASR):c.699G>A (p.Arg233=)
|
|
|
NM_000388.4(CASR):c.703A>G (p.Ile235Val)
|
rs2107632125
|
|
NM_000388.4(CASR):c.706T>A (p.Cys236Ser)
|
|
|
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr)
|
rs1057518616
|
|
NM_000388.4(CASR):c.707G>T (p.Cys236Phe)
|
rs1057518616
|
|
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)
|
|
|
NM_000388.4(CASR):c.711C>T (p.Ile237=)
|
|
|
NM_000388.4(CASR):c.712G>C (p.Asp238His)
|
rs373376842
|
|
NM_000388.4(CASR):c.714C>T (p.Asp238=)
|
|
|
NM_000388.4(CASR):c.715T>G (p.Phe239Val)
|
|
|
NM_000388.4(CASR):c.717C>T (p.Phe239=)
|
rs2107632147
|
|
NM_000388.4(CASR):c.718A>G (p.Ser240Gly)
|
rs200878437
|
|
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
|
|
|
NM_000388.4(CASR):c.721G>A (p.Glu241Lys)
|
rs2107632158
|
|
NM_000388.4(CASR):c.721del (p.Glu241fs)
|
|
|
NM_000388.4(CASR):c.725T>C (p.Leu242Pro)
|
rs1064794676
|
|
NM_000388.4(CASR):c.726C>T (p.Leu242=)
|
rs1433483919
|
|
NM_000388.4(CASR):c.727A>G (p.Ile243Val)
|
|
|
NM_000388.4(CASR):c.729C>G (p.Ile243Met)
|
|
|
NM_000388.4(CASR):c.729C>T (p.Ile243=)
|
rs2107632173
|
|
NM_000388.4(CASR):c.733C>T (p.Gln245Ter)
|
rs1553766768
|
|
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
|
|
|
NM_000388.4(CASR):c.746A>T (p.Glu249Val)
|
|
|
NM_000388.4(CASR):c.747_749del (p.Glu251del)
|
|
|
NM_000388.4(CASR):c.749A>G (p.Glu250Gly)
|
rs1256348744
|
|
NM_000388.4(CASR):c.74G>A (p.Arg25Gln)
|
rs568902441
|
|
NM_000388.4(CASR):c.74G>T (p.Arg25Leu)
|
rs568902441
|
|
NM_000388.4(CASR):c.751G>C (p.Glu251Gln)
|
rs1060502854
|
|
NM_000388.4(CASR):c.753G>C (p.Glu251Asp)
|
rs2074626568
|
|
NM_000388.4(CASR):c.754A>G (p.Ile252Val)
|
rs2107632219
|
|
NM_000388.4(CASR):c.755T>A (p.Ile252Asn)
|
|
|
NM_000388.4(CASR):c.756C>A (p.Ile252=)
|
rs201948422
|
|
NM_000388.4(CASR):c.756C>G (p.Ile252Met)
|
|
|
NM_000388.4(CASR):c.75A>C (p.Arg25=)
|
rs199869938
|
|
NM_000388.4(CASR):c.765G>A (p.Val255=)
|
rs2107632240
|
|
NM_000388.4(CASR):c.766G>A (p.Val256Ile)
|
|
|
NM_000388.4(CASR):c.767T>C (p.Val256Ala)
|
rs2074626876
|
|
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs)
|
|
|
NM_000388.4(CASR):c.776T>C (p.Ile259Thr)
|
rs1200068518
|
|
NM_000388.4(CASR):c.778C>G (p.Gln260Glu)
|
rs2074627053
|
|
NM_000388.4(CASR):c.782A>C (p.Asn261Thr)
|
rs2074627203
|
|
NM_000388.4(CASR):c.783T>C (p.Asn261=)
|
rs1576858386
|
|
NM_000388.4(CASR):c.788C>T (p.Thr263Met)
|
rs201456938
|
|
NM_000388.4(CASR):c.789G>A (p.Thr263=)
|
rs369124816
|
|
NM_000388.4(CASR):c.78C>A (p.Ala26=)
|
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.78C>T (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.791C>T (p.Ala264Val)
|
|
|
NM_000388.4(CASR):c.795A>G (p.Lys265=)
|
rs2107632283
|
|
NM_000388.4(CASR):c.796G>A (p.Val266Ile)
|
rs2074627422
|
|
NM_000388.4(CASR):c.797T>G (p.Val266Gly)
|
|
|
NM_000388.4(CASR):c.801C>A (p.Ile267=)
|
rs148721982
|
|
NM_000388.4(CASR):c.801C>T (p.Ile267=)
|
rs148721982
|
|
NM_000388.4(CASR):c.802G>A (p.Val268Met)
|
rs2074627507
|
|
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
|
|
|
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
|
|
|
NM_000388.4(CASR):c.815G>A (p.Ser272Asn)
|
rs1576858432
|
|
NM_000388.4(CASR):c.816T>A (p.Ser272Arg)
|
rs2107632311
|
|
NM_000388.4(CASR):c.818G>C (p.Gly273Ala)
|
rs2074627937
|
|
NM_000388.4(CASR):c.819C>T (p.Gly273=)
|
rs2107632323
|
|
NM_000388.4(CASR):c.81A>G (p.Gln27=)
|
|
|
NM_000388.4(CASR):c.820C>G (p.Pro274Ala)
|
|
|
NM_000388.4(CASR):c.820C>T (p.Pro274Ser)
|
|
|
NM_000388.4(CASR):c.821C>T (p.Pro274Leu)
|
rs1005301601
|
|
NM_000388.4(CASR):c.826C>A (p.Leu276Ile)
|
|
|
NM_000388.4(CASR):c.831G>A (p.Glu277=)
|
rs2107632344
|
|
NM_000388.4(CASR):c.831G>C (p.Glu277Asp)
|
|
|
NM_000388.4(CASR):c.832C>G (p.Pro278Ala)
|
|
|
NM_000388.4(CASR):c.833C>T (p.Pro278Leu)
|
|
|
NM_000388.4(CASR):c.834C>T (p.Pro278=)
|
|
|
NM_000388.4(CASR):c.835C>T (p.Leu279Phe)
|
|
|
NM_000388.4(CASR):c.836T>G (p.Leu279Arg)
|
rs1553766796
|
|
NM_000388.4(CASR):c.839T>A (p.Ile280Asn)
|
rs1559959234
|
|
NM_000388.4(CASR):c.840C>T (p.Ile280=)
|
rs201366476
|
|
NM_000388.4(CASR):c.846G>A (p.Glu282=)
|
|
|
NM_000388.4(CASR):c.849T>C (p.Ile283=)
|
rs1576858514
|
|
NM_000388.4(CASR):c.850G>A (p.Val284Ile)
|
|
|
NM_000388.4(CASR):c.853C>T (p.Arg285Trp)
|
rs1553766800
|
|
NM_000388.4(CASR):c.855G>A (p.Arg285=)
|
rs1250270901
|
|
NM_000388.4(CASR):c.855G>T (p.Arg285=)
|
|
|
NM_000388.4(CASR):c.856C>A (p.Arg286Ser)
|
|
|
NM_000388.4(CASR):c.856C>T (p.Arg286Cys)
|
rs1060502843
|
|
NM_000388.4(CASR):c.857G>C (p.Arg286Pro)
|
rs922511747
|
|
NM_000388.4(CASR):c.858C>T (p.Arg286=)
|
rs2107632406
|
|
NM_000388.4(CASR):c.859A>C (p.Asn287His)
|
rs2107632409
|
|
NM_000388.4(CASR):c.860A>G (p.Asn287Ser)
|
rs2074629436
|
|
NM_000388.4(CASR):c.862A>G (p.Ile288Val)
|
rs2107632419
|
|
NM_000388.4(CASR):c.864C>T (p.Ile288=)
|
rs1553766801
|
|
NM_000388.4(CASR):c.865A>G (p.Thr289Ala)
|
rs1559959294
|
|
NM_000388.4(CASR):c.866C>G (p.Thr289Arg)
|
rs755840531
|
|
NM_000388.4(CASR):c.867G>T (p.Thr289=)
|
|
|
NM_000388.4(CASR):c.869G>A (p.Gly290Asp)
|
|
|
NM_000388.4(CASR):c.870C>T (p.Gly290=)
|
rs1576858604
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)
|
|
|
NM_000388.4(CASR):c.87G>A (p.Lys29=)
|
rs868678822
|
|
NM_000388.4(CASR):c.883G>A (p.Ala295Thr)
|
rs1289972038
|
|
NM_000388.4(CASR):c.884C>G (p.Ala295Gly)
|
rs1559959332
|
|
NM_000388.4(CASR):c.884C>T (p.Ala295Val)
|
|
|
NM_000388.4(CASR):c.888C>T (p.Ser296=)
|
rs759988398
|
|
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)
|
rs121909259
|
|
NM_000388.4(CASR):c.889G>C (p.Glu297Gln)
|
rs121909259
|
|
NM_000388.4(CASR):c.88G>C (p.Gly30Arg)
|
|
|
NM_000388.4(CASR):c.891G>T (p.Glu297Asp)
|
rs1559959353
|
|
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
|
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
NM_000388.4(CASR):c.894C>G (p.Ala298=)
|
|
|
NM_000388.4(CASR):c.89G>A (p.Gly30Glu)
|
rs1553765889
|
|
NM_000388.4(CASR):c.900C>G (p.Ala300=)
|
rs2107632507
|
|
NM_000388.4(CASR):c.903C>T (p.Ser301=)
|
rs2107632513
|
|
NM_000388.4(CASR):c.904T>A (p.Ser302Thr)
|
rs2074630497
|
|
NM_000388.4(CASR):c.905C>A (p.Ser302Tyr)
|
rs2107632520
|
|
NM_000388.4(CASR):c.905C>G (p.Ser302Cys)
|
|
|
NM_000388.4(CASR):c.906C>A (p.Ser302=)
|
|
|
NM_000388.4(CASR):c.90G>A (p.Gly30=)
|
rs1055397172
|
|
NM_000388.4(CASR):c.90G>T (p.Gly30=)
|
rs1055397172
|
|
NM_000388.4(CASR):c.910C>T (p.Leu304=)
|
|
|
NM_000388.4(CASR):c.915C>T (p.Ile305=)
|
rs200528343
|
|
NM_000388.4(CASR):c.916G>C (p.Ala306Pro)
|
|
|
NM_000388.4(CASR):c.916G>T (p.Ala306Ser)
|
rs2074630775
|
|
NM_000388.4(CASR):c.919A>G (p.Met307Val)
|
|
|
NM_000388.4(CASR):c.91G>C (p.Asp31His)
|
|
|
NM_000388.4(CASR):c.91dup (p.Asp31fs)
|
rs2107624870
|
|
NM_000388.4(CASR):c.920T>C (p.Met307Thr)
|
rs387907397
|
|
NM_000388.4(CASR):c.924_925dup (p.Gln309fs)
|
rs2107632553
|
|
NM_000388.4(CASR):c.926A>C (p.Gln309Pro)
|
rs1576858741
|
|
NM_000388.4(CASR):c.926A>T (p.Gln309Leu)
|
rs1576858741
|
|
NM_000388.4(CASR):c.931T>G (p.Phe311Val)
|
rs2107632568
|
|
NM_000388.4(CASR):c.936C>G (p.His312Gln)
|
rs1356911586
|
|
NM_000388.4(CASR):c.936C>T (p.His312=)
|
|
|
NM_000388.4(CASR):c.938T>A (p.Val313Glu)
|
|
|
NM_000388.4(CASR):c.938T>C (p.Val313Ala)
|
|
|
NM_000388.4(CASR):c.942T>C (p.Val314=)
|
rs2107632581
|
|
NM_000388.4(CASR):c.944G>A (p.Gly315Asp)
|
rs1389231880
|
|
NM_000388.4(CASR):c.945C>A (p.Gly315=)
|
|
|
NM_000388.4(CASR):c.948C>T (p.Gly316=)
|
rs2107632595
|
|
NM_000388.4(CASR):c.94A>G (p.Ile32Val)
|
rs2074529687
|
|
NM_000388.4(CASR):c.94A>T (p.Ile32Phe)
|
rs2074529687
|
|
NM_000388.4(CASR):c.951C>T (p.Thr317=)
|
|
|
NM_000388.4(CASR):c.952A>G (p.Ile318Val)
|
rs779711318
|
|
NM_000388.4(CASR):c.953T>C (p.Ile318Thr)
|
rs2107632605
|
|
NM_000388.4(CASR):c.955G>A (p.Gly319Arg)
|
|
|
NM_000388.4(CASR):c.956G>A (p.Gly319Glu)
|
rs2107632608
|
|
NM_000388.4(CASR):c.957A>C (p.Gly319=)
|
|
|
NM_000388.4(CASR):c.961G>A (p.Ala321Thr)
|
rs2074631702
|
|
NM_000388.4(CASR):c.961G>T (p.Ala321Ser)
|
|
|
NM_000388.4(CASR):c.961_962del (p.Ala321fs)
|
rs2107632620
|
|
NM_000388.4(CASR):c.964C>T (p.Leu322=)
|
rs2107632631
|
|
NM_000388.4(CASR):c.968A>C (p.Lys323Thr)
|
rs1382062409
|
|
NM_000388.4(CASR):c.969G>A (p.Lys323=)
|
rs1559959462
|
|
NM_000388.4(CASR):c.970G>C (p.Ala324Pro)
|
|
|
NM_000388.4(CASR):c.971C>A (p.Ala324Asp)
|
|
|
NM_000388.4(CASR):c.971C>G (p.Ala324Gly)
|
|
|
NM_000388.4(CASR):c.973G>C (p.Gly325Arg)
|
rs778100486
|
|
NM_000388.4(CASR):c.975G>A (p.Gly325=)
|
|
|
NM_000388.4(CASR):c.977A>T (p.Gln326Leu)
|
|
|
NM_000388.4(CASR):c.978G>A (p.Gln326=)
|
rs916694180
|
|
NM_000388.4(CASR):c.97_98del (p.Ile33fs)
|
|
|
NM_000388.4(CASR):c.981C>G (p.Ile327Met)
|
rs1240483254
|
|
NM_000388.4(CASR):c.986_994del (p.Gly329_Arg331del)
|
rs2107632671
|
|
NM_000388.4(CASR):c.987C>T (p.Gly329=)
|
rs1576858879
|
|
NM_000388.4(CASR):c.991C>T (p.Arg331Trp)
|
rs2074632178
|
|
NM_000388.4(CASR):c.992G>A (p.Arg331Gln)
|
rs747090029
|
|
NM_000388.4(CASR):c.992G>C (p.Arg331Pro)
|
rs747090029
|
|
NM_000388.4(CASR):c.992G>T (p.Arg331Leu)
|
|
|
NM_000388.4(CASR):c.994G>A (p.Glu332Lys)
|
|
|
NM_000388.4(CASR):c.994del (p.Glu332fs)
|
|
|
NM_000388.4(CASR):c.995A>G (p.Glu332Gly)
|
|
|
NM_000388.4(CASR):c.99C>T (p.Ile33=)
|
rs387907398
|
|
NM_000388.4(CASR):c.9T>G (p.Phe3Leu)
|
rs764556468
|
|
NM_000388.4:c.2628_2629insAlu
|
|
|
NM_000388.4:c.2643_2644insAlu
|
|
|
NM_000782.5(CYP24A1):c.*518A>G
|
rs886056784
|
|
NM_000782.5(CYP24A1):c.*549A>T
|
rs2092618847
|
|
NM_000782.5(CYP24A1):c.*688GT[7]
|
rs147124541
|
|
NM_000782.5(CYP24A1):c.*702GT[5]
|
rs372687331
|
|
NM_000782.5(CYP24A1):c.*80A>G
|
rs560443324
|
|
NM_000782.5(CYP24A1):c.*838T>G
|
rs886056782
|
|
NM_000782.5(CYP24A1):c.-112T>C
|
rs2092703674
|
|
NM_000782.5(CYP24A1):c.-154T>G
|
rs75209626
|
|
NM_000782.5(CYP24A1):c.-17C>T
|
rs886056790
|
|
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu)
|
rs1227845728
|
|
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=)
|
rs61749689
|
|
NM_000782.5(CYP24A1):c.1254T>C (p.Asn418=)
|
rs2092633894
|
|
NM_000782.5(CYP24A1):c.1268G>T (p.Gly423Val)
|
rs2146464297
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu)
|
rs886056786
|
|
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs)
|
rs876657376
|
|
NM_000782.5(CYP24A1):c.1513C>G (p.Arg505Gly)
|
rs773181675
|
|
NM_000782.5(CYP24A1):c.1518A>T (p.Glu506Asp)
|
rs775698372
|
|
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
|
|
|
NM_000782.5(CYP24A1):c.259-5T>C
|
rs372360343
|
|
NM_000782.5(CYP24A1):c.295A>G (p.Met99Val)
|
rs886056789
|
|
NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu)
|
rs114476330
|
|
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
|
|
|
NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)
|
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_000782.5(CYP24A1):c.449+2dup
|
rs2092698761
|
|
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter)
|
rs387907323
|
|
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=)
|
rs35873579
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)
|
rs387907322
|
|
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)
|
rs774432244
|
|
NM_000782.5(CYP24A1):c.641-1G>A
|
|
|
NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter)
|
rs2146489987
|
|
NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr)
|
rs2092663565
|
|
NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu)
|
rs886056788
|
|
NM_000782.5(CYP24A1):c.948G>T (p.Leu316Phe)
|
|
|
NM_000782.5(CYP24A1):c.991-9G>A
|
rs886056787
|
|
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
|
|
|
NM_001692.4(ATP6V1B1):c.175-1G>C
|
rs1572919267
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu)
|
rs140749796
|
|
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys)
|
rs587777021
|
|
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)
|
rs587777707
|
|
NM_002067.5(GNA11):c.322-10G>A
|
rs368874580
|
|
NM_002067.5(GNA11):c.404T>A (p.Leu135Gln)
|
rs587777019
|
|
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln)
|
rs587777020
|
|
NM_002067.5(GNA11):c.595ATC[1] (p.Ile200del)
|
rs672601249
|
|
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp)
|
rs587777022
|
|
NM_002067.5(GNA11):c.889+5G>A
|
rs768590899
|
|
NM_002067.5(GNA11):c.95A>G (p.Asp32Gly)
|
rs200234790
|
|
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly)
|
rs876661338
|
|
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)
|
rs73336286
|
|
NM_003052.5(SLC34A1):c.1175-3C>A
|
rs2127355139
|
|
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)
|
rs1581648732
|
|
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)
|
rs145542852
|
|
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
|
|
|
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met)
|
rs765774780
|
|
NM_003052.5(SLC34A1):c.1432TTC[2] (p.Phe480del)
|
|
|
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr)
|
rs144700897
|
|
NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)
|
rs1174958403
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del)
|
rs758233945
|
|
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup)
|
rs777543926
|
|
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.527_528del (p.Ser176fs)
|
|
|
NM_003052.5(SLC34A1):c.532+2T>C
|
rs1762582225
|
|
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)
|
rs370983881
|
|
NM_003052.5(SLC34A1):c.644+5G>A
|
|
|
NM_003052.5(SLC34A1):c.644+5G>C
|
|
|
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=)
|
rs150592440
|
|
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala)
|
rs1554095500
|
|
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)
|
rs1064795235
|
|
NM_004069.6(AP2S1):c.4-14_4-12del
|
rs373163721
|
|
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)
|
rs397514498
|
|
NM_004069.6(AP2S1):c.44G>A (p.Arg15His)
|
rs397514499
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004482.3(GALNT3):c.-346G>A
|
rs1683418237
|
|
NM_004482.3(GALNT3):c.-370_-366delGCCTC
|
rs886055019
|
|
NM_004482.4(GALNT3):c.*308TA[7]
|
rs140333197
|
|
NM_004482.4(GALNT3):c.*806G>A
|
rs1688290292
|
|
NM_004482.4(GALNT3):c.*897T>C
|
rs886055010
|
|
NM_004482.4(GALNT3):c.*934dup
|
rs144647329
|
|
NM_004482.4(GALNT3):c.*937C>T
|
rs886055009
|
|
NM_004482.4(GALNT3):c.-138T>C
|
rs1683412634
|
|
NM_004482.4(GALNT3):c.-191C>A
|
rs1683414225
|
|
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys)
|
rs137853091
|
|
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter)
|
rs137853089
|
|
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr)
|
rs886055014
|
|
NM_004482.4(GALNT3):c.1524+1G>A
|
rs745655924
|
|
NM_004482.4(GALNT3):c.1626+1G>A
|
rs760830864
|
|
NM_004482.4(GALNT3):c.1626+6C>T
|
rs774391241
|
|
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val)
|
rs377579661
|
|
NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)
|
|
|
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly)
|
rs267606841
|
|
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile)
|
rs1688323295
|
|
NM_004482.4(GALNT3):c.516-2A>G
|
|
|
NM_004482.4(GALNT3):c.549C>A (p.Pro183=)
|
rs144776270
|
|
NM_004482.4(GALNT3):c.677del (p.Ala226fs)
|
rs786205250
|
|
NM_004482.4(GALNT3):c.897G>T (p.Thr299=)
|
rs75931918
|
|
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter)
|
rs137853088
|
|
NM_004795.4(KL):c.*1007T>C
|
rs886050124
|
|
NM_004795.4(KL):c.*1182T>C
|
rs886050125
|
|
NM_004795.4(KL):c.*1509T>G
|
rs886050126
|
|
NM_004795.4(KL):c.*1603C>A
|
rs886050128
|
|
NM_004795.4(KL):c.*1766T>G
|
rs568662502
|
|
NM_004795.4(KL):c.*1870G>A
|
rs1000445864
|
|
NM_004795.4(KL):c.*1950C>A
|
rs886050130
|
|
NM_004795.4(KL):c.*202_*205del
|
rs886050122
|
|
NM_004795.4(KL):c.*203G>T
|
rs763269257
|
|
NM_004795.4(KL):c.*218G>A
|
rs947191941
|
|
NM_004795.4(KL):c.*263A>G
|
rs1872331863
|
|
NM_004795.4(KL):c.*26T>G
|
rs886050120
|
|
NM_004795.4(KL):c.*810G>A
|
rs535918609
|
|
NM_004795.4(KL):c.*93A>C
|
rs1872326031
|
|
NM_004795.4(KL):c.1014C>A (p.Pro338=)
|
rs547049483
|
|
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del)
|
rs777919048
|
|
NM_004795.4(KL):c.1599+14C>G
|
rs886050119
|
|
NM_004795.4(KL):c.1718T>C (p.Val573Ala)
|
rs1872148254
|
|
NM_004795.4(KL):c.1873G>A (p.Glu625Lys)
|
rs150287359
|
|
NM_004795.4(KL):c.191G>A (p.Gly64Asp)
|
rs749006234
|
|
NM_004795.4(KL):c.2226C>T (p.Ser742=)
|
rs201355613
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
NM_004795.4(KL):c.2296G>C (p.Gly766Arg)
|
rs114752661
|
|
NM_004795.4(KL):c.2702-1G>C
|
rs1566510826
|
|
NM_004795.4(KL):c.2702-59dup
|
rs34137141
|
|
NM_004795.4(KL):c.426C>G (p.Leu142=)
|
rs771447026
|
|
NM_004795.4(KL):c.4C>T (p.Pro2Ser)
|
rs1425467064
|
|
NM_004795.4(KL):c.611A>G (p.Tyr204Cys)
|
rs1870383915
|
|
NM_004795.4(KL):c.656A>T (p.Tyr219Phe)
|
rs1870387959
|
|
NM_004795.4(KL):c.721dup (p.Tyr241fs)
|
rs2138184030
|
|
NM_004795.4(KL):c.764C>T (p.Pro255Leu)
|
rs1870396175
|
|
NM_004795.4(KL):c.802G>A (p.Ala268Thr)
|
rs1271557554
|
|
NM_004795.4(KL):c.974G>T (p.Gly325Val)
|
rs1453773670
|
|
NM_006580.3(CLDN16):c.-155C>T
|
rs1718547006
|
|
NM_006580.3(CLDN16):c.-206G>T
|
rs1718545875
|
|
NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs)
|
rs886058244
|
|
NM_006580.4(CLDN16):c.*1022G>A
|
rs556567304
|
|
NM_006580.4(CLDN16):c.*1156G>A
|
rs1719277419
|
|
NM_006580.4(CLDN16):c.*1377T>A
|
rs886058252
|
|
NM_006580.4(CLDN16):c.*1552T>G
|
rs577574442
|
|
NM_006580.4(CLDN16):c.*1733A>G
|
rs886058254
|
|
NM_006580.4(CLDN16):c.*1793G>C
|
rs942417865
|
|
NM_006580.4(CLDN16):c.*493T>C
|
rs1719249633
|
|
NM_006580.4(CLDN16):c.*495A>T
|
rs901678187
|
|
NM_006580.4(CLDN16):c.*724A>C
|
rs886058247
|
|
NM_006580.4(CLDN16):c.*769A>C
|
rs1719257555
|
|
NM_006580.4(CLDN16):c.-45del
|
rs368234054
|
|
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn)
|
rs2108658339
|
|
NM_006580.4(CLDN16):c.117G>A (p.Val39=)
|
rs528344809
|
|
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro)
|
rs2108670592
|
|
NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter)
|
rs104893732
|
|
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly)
|
rs1430185772
|
|
NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro)
|
rs867514971
|
|
NM_006580.4(CLDN16):c.218-10G>A
|
rs1719047633
|
|
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)
|
rs104893720
|
|
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln)
|
rs968906940
|
|
NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp)
|
rs104893730
|
|
NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs)
|
rs1719051110
|
|
NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro)
|
rs104893725
|
|
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr)
|
rs104893724
|
|
NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)
|
rs104893724
|
|
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)
|
rs1253995767
|
|
NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg)
|
rs104893722
|
|
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)
|
rs1577430815
|
|
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)
|
rs104893723
|
|
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu)
|
rs138308105
|
|
NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe)
|
|
|
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile)
|
rs1170178042
|
|
NM_006580.4(CLDN16):c.468del (p.Gly157fs)
|
rs1553809654
|
|
NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)
|
|
|
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)
|
rs104893726
|
|
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)
|
rs1577432872
|
|
NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp)
|
rs104893727
|
|
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr)
|
rs104893728
|
|
NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe)
|
rs104893728
|
|
NM_006580.4(CLDN16):c.564T>C (p.Tyr188=)
|
rs1719164774
|
|
NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys)
|
rs1719228589
|
|
NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter)
|
rs387906880
|
|
NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter)
|
rs121908543
|
|
NM_006580.4:c.(?_598)_(900_?)del
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp)
|
rs1455883160
|
|
NM_017654.4(SAMD9):c.132del (p.Val45fs)
|
rs1554337424
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)
|
rs181767582
|
|
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)
|
rs778749748
|
|
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)
|
rs1554337029
|
|
NM_017654.4(SAMD9):c.29del (p.Asn10fs)
|
rs1356051307
|
|
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)
|
rs1554336918
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)
|
rs755666547
|
|
NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile)
|
rs978197631
|
|
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)
|
rs121918554
|
|
NM_017654.4(SAMD9):c.95del (p.His32fs)
|
rs1085307093
|
|
NM_020638.3(FGF23):c.*1380TTC[1]
|
rs550329870
|
|
NM_020638.3(FGF23):c.*1548T>G
|
rs762018989
|
|
NM_020638.3(FGF23):c.*278G>C
|
rs886049408
|
|
NM_020638.3(FGF23):c.*28C>G
|
rs886049411
|
|
NM_020638.3(FGF23):c.*337_*340del
|
rs886049407
|
|
NM_020638.3(FGF23):c.*340_*344del
|
rs886049406
|
|
NM_020638.3(FGF23):c.*367_*372del
|
rs58735464
|
|
NM_020638.3(FGF23):c.*368_*373del
|
rs886049403
|
|
NM_020638.3(FGF23):c.*369_*372del
|
rs58735464
|
|
NM_020638.3(FGF23):c.*372_*377del
|
rs886049402
|
|
NM_020638.3(FGF23):c.*460A>T
|
rs775907152
|
|
NM_020638.3(FGF23):c.*664A>T
|
rs886049400
|
|
NM_020638.3(FGF23):c.-111C>T
|
rs1865158291
|
|
NM_020638.3(FGF23):c.-53C>G
|
rs187035769
|
|
NM_020638.3(FGF23):c.-55C>A
|
rs760895385
|
|
NM_020638.3(FGF23):c.211+12T>G
|
rs1865152731
|
|
NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)
|
rs863224872
|
|
NM_020638.3(FGF23):c.287T>C (p.Met96Thr)
|
rs104894343
|
|
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr)
|
rs1865075955
|
|
NM_020638.3(FGF23):c.315+15del
|
rs771309899
|
|
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)
|
rs1220533001
|
|
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)
|
rs1555096583
|
|
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe)
|
rs104894344
|
|
NM_020638.3(FGF23):c.414G>C (p.Leu138=)
|
rs1865054870
|
|
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)
|
rs193922702
|
|
NM_020638.3(FGF23):c.555G>A (p.Ser185=)
|
rs115283398
|
|
NM_020638.3(FGF23):c.555G>C (p.Ser185=)
|
rs115283398
|
|
NM_020638.3(FGF23):c.60C>T (p.Ser20=)
|
rs763114180
|
|
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp)
|
rs1033823201
|
|