|
NM_006182.4(DDR2):c.1856+32G>T
|
rs1355287
|
0.99589
|
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
|
NM_006182.4(DDR2):c.1504+25T>C
|
rs1780003
|
0.95433
|
|
NM_000077.5(CDKN2A):c.*29G>C
|
rs11515
|
0.85710
|
|
NC_000022.11:g.20273291G>T
|
rs854936
|
0.85441
|
|
NM_004996.4(ABCC1):c.2292+288G>A
|
rs11075295
|
0.83985
|
|
NM_003537.4(H3C2):c.*10C>T
|
rs2213284
|
0.75855
|
|
NM_006206.6(PDGFRA):c.2440-50_2440-49insA
|
rs3830355
|
0.75180
|
|
NM_004996.4(ABCC1):c.1913-617C>T
|
rs35625
|
0.60093
|
|
NM_207103.3(SCIMP):c.99T>C (p.Gly33=)
|
rs2641256
|
0.56955
|
|
NM_003981.4(PRC1):c.1792-828T>C
|
rs12910825
|
0.56832
|
|
NM_003981.4(PRC1):c.1350+35C>G
|
rs12898311
|
0.52787
|
|
NM_000222.3(KIT):c.2484+78T>C
|
rs1008658
|
0.52503
|
|
NM_058195.4(CDKN2A):c.194-3810G>A
|
rs3814960
|
0.49402
|
|
NM_003981.4(PRC1):c.*769A>G
|
rs7601
|
0.46627
|
|
NM_000455.5(STK11):c.375-49G>A
|
rs34928889
|
0.45190
|
|
NM_004996.4(ABCC1):c.1988+357G>T
|
rs35626
|
0.40581
|
|
NM_003981.4(PRC1):c.970+436G>A
|
rs6496742
|
0.39225
|
|
NM_003981.4(PRC1):c.12-2765T>C
|
rs8028856
|
0.38070
|
|
NM_003981.4(PRC1):c.282G>A (p.Thr94=)
|
rs2301826
|
0.37356
|
|
NM_003981.4(PRC1):c.145-81A>T
|
rs8031684
|
0.32249
|
|
NM_000455.5(STK11):c.465-51T>C
|
rs2075606
|
0.29935
|
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
|
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)
|
rs486907
|
0.28062
|
|
NM_002755.4(MAP2K1):c.291+22G>C
|
rs16949924
|
0.27222
|
|
NM_144991.3(TSPEAR):c.303+9076A>G
|
rs452472
|
0.27108
|
|
NM_004304.5(ALK):c.3359+24G>C
|
rs2276550
|
0.26990
|
|
NM_006218.4(PIK3CA):c.352+40A>G
|
rs3729674
|
0.26066
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
|
NM_004304.5(ALK):c.4165-6C>T
|
rs17007646
|
0.20768
|
|
NM_000455.5(STK11):c.374+24G>T
|
rs2075604
|
0.18985
|
|
NM_000141.5(FGFR2):c.1864-43del
|
rs111564057
|
0.17733
|
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
|
NM_003981.4(PRC1):c.268-107G>A
|
rs11857612
|
0.15952
|
|
NM_004996.4(ABCC1):c.1913-718G>T
|
rs35623
|
0.14934
|
|
NM_003981.4(PRC1):c.268-203A>G
|
rs11855081
|
0.12736
|
|
NC_000006.12:g.86822028C>A
|
rs16879870
|
0.12205
|
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
|
NM_003981.4(PRC1):c.1351-3C>T
|
rs17636091
|
0.09389
|
|
NM_001387274.1(DCDC1):c.247G>A (p.Val83Met)
|
rs2761591
|
0.09230
|
|
NM_003981.4(PRC1):c.*627T>C
|
rs14280
|
0.08057
|
|
NM_004996.4(ABCC1):c.1988+219G>T
|
rs4148350
|
0.07631
|
|
NM_003981.4(PRC1):c.*441C>A
|
rs3743450
|
0.05570
|
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
|
NM_003981.4(PRC1):c.1532A>G (p.Tyr511Cys)
|
rs12911192
|
0.04874
|
|
NM_003981.4(PRC1):c.*919G>T
|
rs15172
|
0.04817
|
|
NM_006218.4(PIK3CA):c.1540-55C>T
|
rs45455192
|
0.04697
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_001290208.3(ZNF717):c.1228C>G (p.Leu410Val)
|
rs193921040
|
0.03372
|
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
|
NM_000251.3(MSH2):c.942+4A>T
|
rs749778569
|
0.02181
|
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
|
NM_004360.5(CDH1):c.2440-143G>A
|
rs34238989
|
0.01561
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_004996.4(ABCC1):c.2168G>A (p.Arg723Gln)
|
rs4148356
|
0.01253
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
|
NM_016292.3(TRAP1):c.1604C>G (p.Thr535Ser)
|
rs77440336
|
0.00838
|
|
NM_006182.4(DDR2):c.1505-19G>A
|
rs143729297
|
0.00789
|
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
|
NM_007294.4(BRCA1):c.548-80T>C
|
rs8176143
|
0.00692
|
|
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr)
|
rs72552387
|
0.00667
|
|
NM_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_001040108.2(MLH3):c.*1376C>T
|
rs117160510
|
0.00527
|
|
NM_004360.5(CDH1):c.1321-88C>T
|
rs33934457
|
0.00519
|
|
NM_003981.4(PRC1):c.971-441G>A
|
rs59025289
|
0.00503
|
|
NM_001098794.2(FHIP1B):c.2542C>T (p.Arg848Cys)
|
rs117940741
|
0.00490
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
|
NM_052997.3(ANKRD30A):c.3939_3940del (p.Glu1314fs)
|
rs763931520
|
0.00278
|
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_000222.3(KIT):c.2597-51T>C
|
rs368272654
|
0.00263
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_000639.3(FASLG):c.451+7A>G
|
rs201525996
|
0.00210
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_024529.5(CDC73):c.*3419T>A
|
rs566373225
|
0.00205
|
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
|
NM_001040108.2(MLH3):c.*3206C>T
|
rs188135545
|
0.00201
|
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_002354.3(EPCAM):c.859-6A>G
|
rs150307203
|
0.00191
|
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
|
NM_001040108.2(MLH3):c.*1448G>A
|
rs185975350
|
0.00185
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
|
NM_001040108.2(MLH3):c.*3258T>C
|
rs138812028
|
0.00182
|
|
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
|
rs35746269
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
|
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)
|
rs200735885
|
0.00161
|
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000251.1(MSH2):c.-179C>T
|
rs17224094
|
0.00159
|
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)
|
rs142754204
|
0.00157
|
|
NM_001040108.2(MLH3):c.*1470C>T
|
rs181758061
|
0.00154
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)
|
rs116232047
|
0.00149
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_024529.5(CDC73):c.*1365T>C
|
rs180929933
|
0.00143
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
|
NM_024529.5(CDC73):c.*1472T>G
|
rs576716003
|
0.00117
|
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
|
NM_024529.5(CDC73):c.*2446C>T
|
rs572307472
|
0.00114
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
|
NM_058216.3(RAD51C):c.571+64C>A
|
rs181988623
|
0.00108
|
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
|
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)
|
rs146468845
|
0.00093
|
|
NM_000142.5(FGFR3):c.1266+25C>T
|
rs200827273
|
0.00088
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_001395159.1(UNC79):c.4394C>T (p.Thr1465Met)
|
rs34816083
|
0.00084
|
|
NM_000251.3(MSH2):c.942+4A>G
|
rs749778569
|
0.00082
|
|
NM_004364.5(CEBPA):c.-39C>A
|
rs41434054
|
0.00082
|
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
|
NM_001040108.2(MLH3):c.*1159A>C
|
rs549461634
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NC_000006.12:g.26032121C>G
|
rs184952244
|
0.00080
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
|
rs72650673
|
0.00080
|
|
NM_024529.5(CDC73):c.*1132G>T
|
rs1017988008
|
0.00078
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_007294.4(BRCA1):c.-86C>T
|
rs143160357
|
0.00077
|
|
NM_000245.4(MET):c.*1886T>A
|
rs536185931
|
0.00076
|
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
|
NM_001127511.3(APC):c.-204A>G
|
rs554351451
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
|
NM_024529.5(CDC73):c.*3266A>G
|
rs532839308
|
0.00075
|
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_001166108.2(PALLD):c.*2141A>G
|
rs962914167
|
0.00071
|
|
NM_001166108.2(PALLD):c.*1792T>A
|
rs186567215
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
|
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)
|
rs200769337
|
0.00068
|
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
|
NM_001166108.2(PALLD):c.*2027T>C
|
rs192990293
|
0.00065
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
|
NM_005359.6(SMAD4):c.*202A>G
|
rs765823244
|
0.00064
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_003981.4(PRC1):c.*342A>G
|
rs112187198
|
0.00059
|
|
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
|
NM_024426.6(WT1):c.*513C>T
|
rs575602262
|
0.00059
|
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_000245.4(MET):c.*1636C>T
|
rs186175651
|
0.00057
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
|
NM_004360.5(CDH1):c.*424T>A
|
rs867174076
|
0.00056
|
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
|
NM_003073.5(SMARCB1):c.*159C>G
|
rs1022324232
|
0.00055
|
|
NM_004562.3(PRKN):c.799T>C (p.Tyr267His)
|
rs114696251
|
0.00055
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)
|
rs187912365
|
0.00051
|
|
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)
|
rs368806050
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
|
NM_024426.6(WT1):c.*460C>A
|
rs886048221
|
0.00048
|
|
NM_024426.6(WT1):c.-110C>T
|
rs886048241
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
|
NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_001040108.2(MLH3):c.*2469A>G
|
rs764557856
|
0.00046
|
|
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met)
|
rs139593361
|
0.00046
|
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
|
NM_004360.5(CDH1):c.*346A>T
|
rs754600872
|
0.00045
|
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
|
NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)
|
rs61756416
|
0.00044
|
|
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr)
|
rs146822426
|
0.00044
|
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_001040108.2(MLH3):c.*888C>T
|
rs181069483
|
0.00043
|
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
|
NM_000245.4(MET):c.-64G>T
|
rs866509744
|
0.00042
|
|
NM_000251.3(MSH2):c.*129T>C
|
rs587779059
|
0.00042
|
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
|
NM_024529.5(CDC73):c.*453A>C
|
rs547363180
|
0.00042
|
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
|
NM_001040108.2(MLH3):c.-124A>C
|
rs566279601
|
0.00041
|
|
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)
|
rs148159407
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_004360.5(CDH1):c.*16C>T
|
rs769544370
|
0.00041
|
|
NM_019040.5(ELP4):c.*2716T>C
|
rs549835579
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
|
NM_024704.5(KIF16B):c.1979G>A (p.Arg660His)
|
rs138901840
|
0.00040
|
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
|
NM_001290268.2(RIPOR3):c.67G>A (p.Val23Met)
|
rs141033220
|
0.00039
|
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
|
NM_000044.6(AR):c.173A>T (p.Gln58Leu)
|
rs200185441
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001166108.2(PALLD):c.-83+9G>A
|
rs150719521
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
|
NM_000321.3(RB1):c.*1044T>A
|
rs1043605723
|
0.00036
|
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_024529.5(CDC73):c.*1761T>C
|
rs528066706
|
0.00036
|
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
|
NM_006231.4(POLE):c.2602C>T (p.Leu868=)
|
rs115830215
|
0.00035
|
|
NM_024426.6(WT1):c.*1167T>G
|
rs771770230
|
0.00035
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
|
NM_004360.5(CDH1):c.*623A>G
|
rs142125691
|
0.00034
|
|
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)
|
rs35918369
|
0.00034
|
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
|
NM_001166108.2(PALLD):c.1965-12924C>T
|
rs1048547337
|
0.00032
|
|
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys)
|
rs35009542
|
0.00032
|
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
|
NM_006231.4(POLE):c.3971G>A (p.Arg1324His)
|
rs143981093
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_024426.6(WT1):c.-76T>C
|
rs886048235
|
0.00032
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
|
NM_001040108.2(MLH3):c.*1291G>A
|
rs543186188
|
0.00031
|
|
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)
|
rs138534983
|
0.00031
|
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
|
NM_001040108.2(MLH3):c.2650G>A (p.Glu884Lys)
|
rs61752723
|
0.00030
|
|
NM_001253772.2(SYT6):c.1471G>A (p.Ala491Thr)
|
rs142164979
|
0.00030
|
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
|
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)
|
rs148348158
|
0.00029
|
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
|
NM_004360.5(CDH1):c.1937-25C>A
|
rs201760019
|
0.00029
|
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00029
|
|
NM_005188.3(CBL):c.-122C>T
|
rs886047765
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_024529.5(CDC73):c.*1787A>G
|
rs747621423
|
0.00029
|
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
|
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu)
|
rs373436584
|
0.00028
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
|
NM_001166108.2(PALLD):c.1965-12812C>A
|
rs532961259
|
0.00027
|
|
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)
|
rs137994522
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
|
NM_000245.4(MET):c.*1637G>A
|
rs534514626
|
0.00026
|
|
NM_000245.4(MET):c.*655C>T
|
rs563978117
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_001040108.2(MLH3):c.*1073A>C
|
rs1032410483
|
0.00026
|
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_003981.4(PRC1):c.*733G>A
|
rs112770009
|
0.00025
|
|
NM_000245.4(MET):c.*2079G>A
|
rs757859772
|
0.00024
|
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
|
NM_001166108.2(PALLD):c.-143A>G
|
rs571957605
|
0.00024
|
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
|
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)
|
rs149544601
|
0.00024
|
|
NM_019040.5(ELP4):c.*4571A>G
|
rs1029065786
|
0.00024
|
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
|
NM_024529.5(CDC73):c.*1644C>T
|
rs764317616
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
|
NM_000245.4(MET):c.*1784T>A
|
rs554029534
|
0.00023
|
|
NM_001166108.2(PALLD):c.*1131T>G
|
rs773353973
|
0.00023
|
|
NM_002439.5(MSH3):c.421T>C (p.Cys141Arg)
|
rs143733332
|
0.00023
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
|
NM_020975.6(RET):c.2654G>A (p.Gly885Glu)
|
rs1010091281
|
0.00023
|
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
|
NM_001040108.2(MLH3):c.*889G>A
|
rs886050772
|
0.00022
|
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
|
NM_004360.5(CDH1):c.*1872C>T
|
rs545034372
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
|
NM_024529.5(CDC73):c.*3791T>C
|
rs886045739
|
0.00022
|
|
NM_031485.4(GRWD1):c.593G>A (p.Arg198Gln)
|
rs147327994
|
0.00022
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
|
NM_001040108.2(MLH3):c.4180G>A (p.Ala1394Thr)
|
rs138006166
|
0.00021
|
|
NM_004360.5(CDH1):c.*196T>G
|
rs576484193
|
0.00021
|
|
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)
|
rs919904139
|
0.00021
|
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
|
NM_017763.6(RNF43):c.1114C>T (p.Pro372Ser)
|
rs201204271
|
0.00021
|
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp)
|
rs587778231
|
0.00021
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
|
NM_000245.4(MET):c.*1593G>A
|
rs764929802
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
|
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)
|
rs777286241
|
0.00020
|
|
NM_001040108.2(MLH3):c.2775C>A (p.Asn925Lys)
|
rs144010264
|
0.00020
|
|
NM_001166108.2(PALLD):c.*2184G>A
|
rs769635594
|
0.00020
|
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
|
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)
|
rs189732445
|
0.00020
|
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
|
NM_019040.5(ELP4):c.*2387C>T
|
rs990066045
|
0.00020
|
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
|
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)
|
rs200679164
|
0.00020
|
|
NM_000051.3(ATM):c.-371G>C
|
rs890835455
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly)
|
rs200441272
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
|
NM_001040108.2(MLH3):c.*1235T>C
|
rs189021867
|
0.00019
|
|
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu)
|
rs140360991
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
|
NM_024426.6(WT1):c.*534C>T
|
rs868546165
|
0.00019
|
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
|
NM_000044.6(AR):c.1153G>T (p.Ala385Ser)
|
rs200067740
|
0.00018
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00018
|
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
|
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln)
|
rs201303087
|
0.00018
|
|
NM_001754.5(RUNX1):c.-59-10C>T
|
rs578080277
|
0.00018
|
|
NM_002354.3(EPCAM):c.859-3C>G
|
rs201314303
|
0.00018
|
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
|
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)
|
rs72480423
|
0.00018
|
|
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)
|
rs770428240
|
0.00018
|
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
|
NM_024426.6(WT1):c.*666A>G
|
rs374306749
|
0.00018
|
|
NM_182643.3(DLC1):c.1700C>T (p.Pro567Leu)
|
rs139415835
|
0.00018
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
|
NM_002439.5(MSH3):c.2600T>C (p.Ile867Thr)
|
rs187411724
|
0.00017
|
|
NM_002439.5(MSH3):c.2818G>T (p.Gly940Cys)
|
rs763614470
|
0.00017
|
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
|
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys)
|
rs374954001
|
0.00017
|
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000791.4(DHFR):c.-254G>A
|
rs374904719
|
0.00016
|
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
|
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)
|
rs555329870
|
0.00016
|
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004360.5(CDH1):c.388-21C>A
|
rs769585694
|
0.00016
|
|
NM_004655.4(AXIN2):c.1436C>A (p.Ser479Tyr)
|
rs137933764
|
0.00016
|
|
NM_005228.5(EGFR):c.3271+49del
|
rs17337514
|
0.00016
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
|
NM_024529.5(CDC73):c.-143G>C
|
rs778446879
|
0.00016
|
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
|
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)
|
rs148454691
|
0.00016
|
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000251.2(MSH2):c.-116G>T
|
rs587782786
|
0.00015
|
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
|
NM_001793.6(CDH3):c.235G>A (p.Glu79Lys)
|
rs193921054
|
0.00015
|
|
NM_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
0.00015
|
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
|
rs770636941
|
0.00015
|
|
NM_005373.3(MPL):c.619G>A (p.Asp207Asn)
|
rs201385967
|
0.00015
|
|
NM_005392.4(PHF2):c.2563G>A (p.Asp855Asn)
|
rs193921057
|
0.00015
|
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
|
NM_017763.6(RNF43):c.640C>G (p.Leu214Val)
|
rs200626293
|
0.00015
|
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
|
NM_020975.6(RET):c.2607+4C>T
|
rs200634990
|
0.00015
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_001040108.2(MLH3):c.2327A>T (p.Asn776Ile)
|
rs150742442
|
0.00014
|
|
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys)
|
rs140899869
|
0.00014
|
|
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln)
|
rs201721635
|
0.00014
|
|
NM_001040108.2(MLH3):c.914T>C (p.Ile305Thr)
|
rs150796590
|
0.00014
|
|
NM_001166108.2(PALLD):c.*2171T>C
|
rs548951283
|
0.00014
|
|
NM_001963.6(EGF):c.47G>C (p.Ser16Thr)
|
rs200394315
|
0.00014
|
|
NM_002439.5(MSH3):c.3350A>G (p.Gln1117Arg)
|
rs946137864
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_017551.3(GRID1):c.884C>T (p.Thr295Met)
|
rs143353694
|
0.00014
|
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
|
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)
|
rs116373975
|
0.00013
|
|
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys)
|
rs142496478
|
0.00013
|
|
NM_000179.3(MSH6):c.-56G>T
|
rs886056139
|
0.00013
|
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
|
NM_001126049.2(KLLN):c.-777C>T
|
rs961642255
|
0.00013
|
|
NM_001166108.2(PALLD):c.1965-12907G>A
|
rs780516159
|
0.00013
|
|
NM_002439.5(MSH3):c.2336G>A (p.Arg779His)
|
rs199791286
|
0.00013
|
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
|
NM_004655.4(AXIN2):c.119T>G (p.Val40Gly)
|
rs781560435
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_017763.6(RNF43):c.655C>T (p.Arg219Cys)
|
rs373068965
|
0.00013
|
|
NM_019842.4(KCNQ5):c.2110G>A (p.Ala704Thr)
|
rs148543637
|
0.00013
|
|
NM_024426.6(WT1):c.*239G>A
|
rs886048226
|
0.00013
|
|
NM_024529.5(CDC73):c.*683G>A
|
rs905879297
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_030782.5(CLPTM1L):c.749G>A (p.Arg250His)
|
rs193920801
|
0.00013
|
|
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)
|
rs551818122
|
0.00013
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
|
NM_000321.3(RB1):c.*68A>G
|
rs547352312
|
0.00012
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
|
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr)
|
rs182571219
|
0.00012
|
|
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn)
|
rs367993015
|
0.00012
|
|
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu)
|
rs145657887
|
0.00012
|
|
NM_002439.5(MSH3):c.3072G>C (p.Gln1024His)
|
rs147640909
|
0.00012
|
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_005343.4(HRAS):c.450+35A>C
|
rs749486358
|
0.00012
|
|
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)
|
rs757559474
|
0.00012
|
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
|
NM_024529.5(CDC73):c.*1985T>A
|
rs886045726
|
0.00012
|
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)
|
rs368003279
|
0.00011
|
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
|
NM_001004416.3(UMODL1):c.3655G>A (p.Val1219Ile)
|
rs539189509
|
0.00011
|
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
|
NM_001166108.2(PALLD):c.-115C>G
|
rs189011214
|
0.00011
|
|
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser)
|
rs150764613
|
0.00011
|
|
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)
|
rs146795655
|
0.00011
|
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
|
NM_001242898.2(PPP6R2):c.2350C>T (p.Arg784Trp)
|
rs193920858
|
0.00011
|
|
NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln)
|
rs374122287
|
0.00011
|
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
|
NM_002354.3(EPCAM):c.161A>G (p.Gln54Arg)
|
rs376674068
|
0.00011
|
|
NM_002439.5(MSH3):c.1249C>T (p.Arg417Trp)
|
rs143211109
|
0.00011
|
|
NM_002439.5(MSH3):c.554A>G (p.Asp185Gly)
|
rs144012714
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
0.00011
|
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
|
NM_004360.5(CDH1):c.*1545T>C
|
rs186584057
|
0.00011
|
|
NM_004360.5(CDH1):c.*8G>A
|
rs201223411
|
0.00011
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)
|
rs921077083
|
0.00011
|
|
NM_005612.5(REST):c.2989A>G (p.Met997Val)
|
rs373733071
|
0.00011
|
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
|
NM_019040.5(ELP4):c.*4323G>T
|
rs923696320
|
0.00011
|
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
|
NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln)
|
rs188700676
|
0.00011
|
|
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)
|
rs916583720
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024675.4(PALB2):c.3201+112A>G
|
rs376034945
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)
|
rs367785289
|
0.00011
|
|
NM_032977.4(CASP10):c.922+5G>A
|
rs559244194
|
0.00011
|
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
|
NM_152501.5(PYHIN1):c.602G>A (p.Arg201His)
|
rs193920831
|
0.00011
|
|
NM_152635.3(OIT3):c.1598C>T (p.Thr533Met)
|
rs145480078
|
0.00011
|
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
|
NM_000222.3(KIT):c.101C>T (p.Pro34Leu)
|
rs55755457
|
0.00010
|
|
NM_000245.4(MET):c.-66G>T
|
rs886061941
|
0.00010
|
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
|
NM_000251.3(MSH2):c.*221G>T
|
rs587779060
|
0.00010
|
|
NM_000251.3(MSH2):c.-181G>A
|
rs786201698
|
0.00010
|
|
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)
|
rs149800437
|
0.00010
|
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
|
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)
|
rs757441871
|
0.00010
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
|
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly)
|
rs80358238
|
0.00010
|
|
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val)
|
rs201453923
|
0.00010
|
|
NM_001040108.2(MLH3):c.3367C>T (p.Gln1123Ter)
|
rs151133595
|
0.00010
|
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
|
NM_002439.5(MSH3):c.3188T>C (p.Ile1063Thr)
|
rs758008315
|
0.00010
|
|
NM_002470.4(MYH3):c.118G>A (p.Val40Met)
|
rs148637119
|
0.00010
|
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
|
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)
|
rs918661445
|
0.00010
|
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
|
NM_003073.5(SMARCB1):c.-148T>C
|
rs886057283
|
0.00010
|
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
|
NM_004562.3(PRKN):c.*121A>C
|
rs557142572
|
0.00010
|
|
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)
|
rs141825163
|
0.00010
|
|
NM_017763.6(RNF43):c.667C>T (p.Arg223Cys)
|
rs755478993
|
0.00010
|
|
NM_018303.6(EXOC2):c.1241G>A (p.Arg414His)
|
rs145867129
|
0.00010
|
|
NM_021133.4(RNASEL):c.1260C>T (p.Phe420=)
|
rs540408368
|
0.00010
|
|
NM_024529.5(CDC73):c.*2420A>C
|
rs536960020
|
0.00010
|
|
NM_024529.5(CDC73):c.-30C>T
|
rs770313192
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
|
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile)
|
rs143208167
|
0.00010
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000245.4(MET):c.*1714C>A
|
rs747850853
|
0.00009
|
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
|
NM_000249.3(MLH1):c.-101C>G
|
rs772482820
|
0.00009
|
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
|
NM_000251.3(MSH2):c.-29C>T
|
rs199841800
|
0.00009
|
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
|
NM_000251.3(MSH2):c.1276+11A>G
|
rs189015988
|
0.00009
|
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000321.3(RB1):c.*1022C>T
|
rs886050283
|
0.00009
|
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_001040108.2(MLH3):c.*1110T>C
|
rs774420872
|
0.00009
|
|
NM_001040108.2(MLH3):c.2435G>C (p.Ser812Thr)
|
rs763408801
|
0.00009
|
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
|
NM_001166108.2(PALLD):c.-135A>G
|
rs540285834
|
0.00009
|
|
NM_001166108.2(PALLD):c.1966G>A (p.Gly656Arg)
|
rs149631023
|
0.00009
|
|
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys)
|
rs374741161
|
0.00009
|
|
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys)
|
rs543584983
|
0.00009
|
|
NM_002439.5(MSH3):c.2281G>T (p.Val761Leu)
|
rs376555325
|
0.00009
|
|
NM_002439.5(MSH3):c.3184G>A (p.Gly1062Arg)
|
rs756886395
|
0.00009
|
|
NM_002439.5(MSH3):c.3404T>G (p.Leu1135Arg)
|
rs148947624
|
0.00009
|
|
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)
|
rs199646180
|
0.00009
|
|
NM_002847.5(PTPRN2):c.2339T>C (p.Leu780Pro)
|
rs193920806
|
0.00009
|
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
0.00009
|
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
|
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr)
|
rs758092761
|
0.00009
|
|
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
|
rs3820551
|
0.00009
|
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
|
NM_005560.6(LAMA5):c.2479C>T (p.Arg827Cys)
|
rs193920947
|
0.00009
|
|
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)
|
rs143400546
|
0.00009
|
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
|
NM_017763.6(RNF43):c.1039G>A (p.Gly347Ser)
|
rs780224400
|
0.00009
|
|
NM_017763.6(RNF43):c.1705C>T (p.Pro569Ser)
|
rs62636626
|
0.00009
|
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
|
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)
|
rs778174499
|
0.00009
|
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
|
NM_024529.4(CDC73):c.-190G>C
|
rs886045709
|
0.00009
|
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)
|
rs753645971
|
0.00009
|
|
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)
|
rs141800945
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
|
NM_000245.4(MET):c.2543T>C (p.Val848Ala)
|
rs587782205
|
0.00008
|
|
NM_000245.4(MET):c.280G>C (p.Asp94His)
|
rs899151863
|
0.00008
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
|
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)
|
rs751249745
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
|
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg)
|
rs556775078
|
0.00008
|
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
|
NM_001012967.3(DDX60L):c.1633C>T (p.Arg545Trp)
|
rs201155959
|
0.00008
|
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
|
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys)
|
rs372708613
|
0.00008
|
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
|
NM_003073.5(SMARCB1):c.*113C>T
|
rs886057286
|
0.00008
|
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
|
NM_004655.4(AXIN2):c.917C>T (p.Ala306Val)
|
rs151247101
|
0.00008
|
|
NM_005228.5(EGFR):c.3139G>A (p.Val1047Met)
|
rs142442994
|
0.00008
|
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
|
NM_019040.5(ELP4):c.*2845T>C
|
rs1006923180
|
0.00008
|
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)
|
rs369437807
|
0.00007
|
|
NM_000141.5(FGFR2):c.182G>A (p.Arg61His)
|
rs199575491
|
0.00007
|
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
|
NM_000245.4(MET):c.*1878A>G
|
rs770910579
|
0.00007
|
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
|
NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly)
|
rs141351035
|
0.00007
|
|
NM_000465.4(BARD1):c.946T>G (p.Leu316Val)
|
rs587782325
|
0.00007
|
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
|
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln)
|
rs371682056
|
0.00007
|
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_001007228.2(SPOP):c.353-11C>T
|
rs778981076
|
0.00007
|
|
NM_001040108.2(MLH3):c.*1447C>T
|
rs1351576949
|
0.00007
|
|
NM_001040108.2(MLH3):c.*646G>A
|
rs754358704
|
0.00007
|
|
NM_001040108.2(MLH3):c.3101C>G (p.Thr1034Ser)
|
rs557921152
|
0.00007
|
|
NM_001040108.2(MLH3):c.3248C>A (p.Thr1083Lys)
|
rs561184221
|
0.00007
|
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
|
NM_001040108.2(MLH3):c.4268G>A (p.Arg1423His)
|
rs752635498
|
0.00007
|
|
NM_001040108.2(MLH3):c.82G>T (p.Glu28Ter)
|
rs780501758
|
0.00007
|
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
|
NM_001166108.2(PALLD):c.1965-12748G>C
|
rs551131343
|
0.00007
|
|
NM_001166108.2(PALLD):c.1975A>G (p.Lys659Glu)
|
rs370768506
|
0.00007
|
|
NM_001166108.2(PALLD):c.2627G>A (p.Arg876His)
|
rs115274645
|
0.00007
|
|
NM_002439.5(MSH3):c.1122T>G (p.Asn374Lys)
|
rs146703236
|
0.00007
|
|
NM_002439.5(MSH3):c.1295T>G (p.Leu432Trp)
|
rs770687133
|
0.00007
|
|
NM_002439.5(MSH3):c.2695A>G (p.Met899Val)
|
rs756956247
|
0.00007
|
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
0.00007
|
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
|
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr)
|
rs141260153
|
0.00007
|
|
NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr)
|
rs371114444
|
0.00007
|
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
|
NM_017763.6(RNF43):c.1027C>T (p.Arg343Cys)
|
rs369745984
|
0.00007
|
|
NM_017763.6(RNF43):c.343G>T (p.Ala115Ser)
|
rs201364571
|
0.00007
|
|
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)
|
rs762471494
|
0.00007
|
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
|
NM_020975.6(RET):c.3026T>C (p.Met1009Thr)
|
rs375213011
|
0.00007
|
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
|
NM_024426.6(WT1):c.*159G>C
|
rs746218880
|
0.00007
|
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
|
NM_024529.5(CDC73):c.*2625A>G
|
rs531872328
|
0.00007
|
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
|
NM_024529.5(CDC73):c.648T>A (p.Ala216=)
|
rs143149579
|
0.00007
|
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu)
|
rs372912472
|
0.00007
|
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
|
NM_000044.6(AR):c.188A>T (p.Gln63Leu)
|
rs62636527
|
0.00006
|
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)
|
rs770386388
|
0.00006
|
|
NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)
|
rs786204127
|
0.00006
|
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
|
NM_000179.3(MSH6):c.197C>T (p.Pro66Leu)
|
rs730881812
|
0.00006
|
|
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)
|
rs63749919
|
0.00006
|
|
NM_000179.3(MSH6):c.3191C>T (p.Ala1064Val)
|
rs369042519
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
|
NM_000179.3(MSH6):c.733A>G (p.Ile245Val)
|
rs762168786
|
0.00006
|
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
|
NM_000245.4(MET):c.*803T>A
|
rs1001801655
|
0.00006
|
|
NM_000245.4(MET):c.3811G>A (p.Val1271Met)
|
rs751186512
|
0.00006
|
|
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)
|
rs752669237
|
0.00006
|
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)
|
rs63751069
|
0.00006
|
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
|
NM_000251.1(MSH2):c.-182C>T
|
rs876658327
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
|
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)
|
rs63750902
|
0.00006
|
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000465.4(BARD1):c.-114A>G
|
rs778519204
|
0.00006
|
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00006
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00006
|
|
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)
|
rs752871324
|
0.00006
|
|
NM_000465.4(BARD1):c.1479A>C (p.Gln493His)
|
rs375029767
|
0.00006
|
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
|
NM_000465.4(BARD1):c.2183C>T (p.Ser728Phe)
|
rs13389423
|
0.00006
|
|
NM_000465.4(BARD1):c.665C>T (p.Ala222Val)
|
rs142086060
|
0.00006
|
|
NM_000465.4(BARD1):c.690C>G (p.Asp230Glu)
|
rs587780034
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000465.4(BARD1):c.907G>C (p.Val303Leu)
|
rs375048835
|
0.00006
|
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
|
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp)
|
rs587780040
|
0.00006
|
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
|
NM_001010903.5(BNIP5):c.1447C>T (p.Arg483Trp)
|
rs193920980
|
0.00006
|
|
NM_001040105.2(MUC17):c.8950G>A (p.Glu2984Lys)
|
rs193920784
|
0.00006
|
|
NM_001040108.2(MLH3):c.1651C>T (p.Pro551Ser)
|
rs902755970
|
0.00006
|
|
NM_001040108.2(MLH3):c.2224C>T (p.Arg742Cys)
|
rs774817891
|
0.00006
|
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
|
NM_001040108.2(MLH3):c.3197C>T (p.Thr1066Ile)
|
rs41564213
|
0.00006
|
|
NM_001040108.2(MLH3):c.3455G>A (p.Arg1152His)
|
rs374041909
|
0.00006
|
|
NM_001040108.2(MLH3):c.3466G>A (p.Val1156Ile)
|
rs184741686
|
0.00006
|
|
NM_001040108.2(MLH3):c.617A>G (p.Asp206Gly)
|
rs764643218
|
0.00006
|
|
NM_001040108.2(MLH3):c.728C>T (p.Ala243Val)
|
rs200344425
|
0.00006
|
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
|
NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser)
|
rs369973885
|
0.00006
|
|
NM_001166108.2(PALLD):c.*108C>T
|
rs863224704
|
0.00006
|
|
NM_001166108.2(PALLD):c.*2070G>C
|
rs886059217
|
0.00006
|
|
NM_001166108.2(PALLD):c.1965-12705C>T
|
rs774034818
|
0.00006
|
|
NM_001166108.2(PALLD):c.2635T>G (p.Cys879Gly)
|
rs368472947
|
0.00006
|
|
NM_001166108.2(PALLD):c.3134G>A (p.Arg1045Gln)
|
rs758408204
|
0.00006
|
|
NM_001166108.2(PALLD):c.428G>A (p.Arg143His)
|
rs149345491
|
0.00006
|
|
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)
|
rs193921046
|
0.00006
|
|
NM_001351264.2(C17orf80):c.973C>T (p.Arg325Trp)
|
rs776418014
|
0.00006
|
|
NM_001368894.2(PAX6):c.*90A>C
|
rs572377074
|
0.00006
|
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
|
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)
|
rs200261147
|
0.00006
|
|
NM_001618.4(PARP1):c.370A>G (p.Thr124Ala)
|
rs139924814
|
0.00006
|
|
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)
|
rs749004431
|
0.00006
|
|
NM_001754.5(RUNX1):c.917G>A (p.Arg306His)
|
rs139336358
|
0.00006
|
|
NM_002253.4(KDR):c.2360G>A (p.Arg787Gln)
|
rs193921127
|
0.00006
|
|
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)
|
rs147494515
|
0.00006
|
|
NM_002439.5(MSH3):c.1296G>T (p.Leu432Phe)
|
rs373680329
|
0.00006
|
|
NM_002439.5(MSH3):c.2384T>A (p.Leu795His)
|
rs1210674099
|
0.00006
|
|
NM_002439.5(MSH3):c.3364T>C (p.Trp1122Arg)
|
rs1037707651
|
0.00006
|
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)
|
rs756474511
|
0.00006
|
|
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)
|
rs563079629
|
0.00006
|
|
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)
|
rs762023872
|
0.00006
|
|
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu)
|
rs778856307
|
0.00006
|
|
NM_003072.5(SMARCA4):c.79A>G (p.Met27Val)
|
rs768328175
|
0.00006
|
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
|
NM_004360.5(CDH1):c.*1076T>C
|
rs541517386
|
0.00006
|
|
NM_004360.5(CDH1):c.*192C>T
|
rs576309125
|
0.00006
|
|
NM_004360.5(CDH1):c.*575A>C
|
rs886052242
|
0.00006
|
|
NM_004360.5(CDH1):c.*615G>A
|
rs148655354
|
0.00006
|
|
NM_004360.5(CDH1):c.*959C>A
|
rs886052243
|
0.00006
|
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
|
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)
|
rs375833261
|
0.00006
|
|
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)
|
rs372931505
|
0.00006
|
|
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg)
|
rs201061067
|
0.00006
|
|
NM_004385.5(VCAN):c.8053G>A (p.Val2685Ile)
|
rs59948995
|
0.00006
|
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
0.00006
|
|
NM_006361.6(HOXB13):c.140A>G (p.Asn47Ser)
|
rs748333323
|
0.00006
|
|
NM_006774.5(INMT):c.625C>T (p.Arg209Cys)
|
rs193920790
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_017763.6(RNF43):c.1969C>T (p.Arg657Trp)
|
rs766439784
|
0.00006
|
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
|
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser)
|
rs1217149676
|
0.00006
|
|
NM_019040.5(ELP4):c.*4441T>C
|
rs1452069622
|
0.00006
|
|
NM_020731.4(AHRR):c.1472G>A (p.Arg491Gln)
|
rs769781351
|
0.00006
|
|
NM_020923.3(ZDBF2):c.5795G>A (p.Arg1932His)
|
rs763186071
|
0.00006
|
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
|
NM_020975.6(RET):c.1150C>G (p.Pro384Ala)
|
rs536298339
|
0.00006
|
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
|
NM_020975.6(RET):c.1343A>G (p.Asn448Ser)
|
rs760832715
|
0.00006
|
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
|
NM_020975.6(RET):c.175G>A (p.Ala59Thr)
|
rs376565365
|
0.00006
|
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
|
NM_020975.6(RET):c.224C>T (p.Thr75Met)
|
rs142641173
|
0.00006
|
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
|
NM_020975.6(RET):c.2607+3G>A
|
rs752538741
|
0.00006
|
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
|
NM_020975.6(RET):c.736C>A (p.His246Asn)
|
rs780756440
|
0.00006
|
|
NM_024426.6(WT1):c.-140C>T
|
rs886048244
|
0.00006
|
|
NM_024426.6(WT1):c.121C>T (p.Pro41Ser)
|
rs926668379
|
0.00006
|
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
|
NM_024426.6(WT1):c.29C>T (p.Ala10Val)
|
rs997104313
|
0.00006
|
|
NM_024426.6(WT1):c.689C>T (p.Thr230Met)
|
rs777166391
|
0.00006
|
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
|
NM_024529.5(CDC73):c.*1599A>G
|
rs543573271
|
0.00006
|
|
NM_024529.5(CDC73):c.*2801A>G
|
rs999015399
|
0.00006
|
|
NM_024529.5(CDC73):c.*2962T>C
|
rs147904515
|
0.00006
|
|
NM_024529.5(CDC73):c.*948C>T
|
rs761544591
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
|
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys)
|
rs1219715328
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
|
NM_024704.5(KIF16B):c.1588G>A (p.Val530Met)
|
rs193920855
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)
|
rs146554939
|
0.00006
|
|
NM_033427.3(CTTNBP2):c.3823G>A (p.Glu1275Lys)
|
rs750789291
|
0.00006
|
|
NM_052918.5(SORCS1):c.3371+126C>T
|
rs193920991
|
0.00006
|
|
NM_078471.4(MYO18A):c.40G>A (p.Gly14Arg)
|
rs755153578
|
0.00006
|
|
NM_138778.5(DPH7):c.932A>G (p.Asn311Ser)
|
rs193920785
|
0.00006
|
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
|
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys)
|
rs373646414
|
0.00006
|
|
NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg)
|
rs752116341
|
0.00006
|
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
|
NM_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
|
NM_000043.6(FAS):c.667A>C (p.Asn223His)
|
rs143318339
|
0.00005
|
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys)
|
rs116431130
|
0.00005
|
|
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)
|
rs375181157
|
0.00005
|
|
NM_000124.4(ERCC6):c.3983+4A>G
|
rs370938370
|
0.00005
|
|
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)
|
rs141724446
|
0.00005
|
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
|
NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)
|
rs200944853
|
0.00005
|
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)
|
rs63751121
|
0.00005
|
|
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)
|
rs373721483
|
0.00005
|
|
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)
|
rs759048538
|
0.00005
|
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
|
NM_000179.3(MSH6):c.3537C>G (p.Ala1179=)
|
rs200120044
|
0.00005
|
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
|
NM_000245.4(MET):c.2674G>A (p.Val892Ile)
|
rs761243391
|
0.00005
|
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)
|
rs1064795039
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)
|
rs749383704
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr)
|
rs554708247
|
0.00005
|
|
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser)
|
rs767584985
|
0.00005
|
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
|
NM_001040108.2(MLH3):c.*772T>A
|
rs182733472
|
0.00005
|
|
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His)
|
rs377022215
|
0.00005
|
|
NM_001040108.2(MLH3):c.3694C>T (p.Arg1232Cys)
|
rs550698696
|
0.00005
|
|
NM_001040108.2(MLH3):c.3980T>C (p.Ile1327Thr)
|
rs757266275
|
0.00005
|
|
NM_001040108.2(MLH3):c.638A>C (p.Gln213Pro)
|
rs370194355
|
0.00005
|
|
NM_001040108.2(MLH3):c.679A>C (p.Ser227Arg)
|
rs368947441
|
0.00005
|
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
|
NM_001166108.2(PALLD):c.*439T>C
|
rs972893704
|
0.00005
|
|
NM_001166108.2(PALLD):c.2645G>A (p.Arg882Gln)
|
rs780692056
|
0.00005
|
|
NM_001754.5(RUNX1):c.749G>A (p.Arg250His)
|
rs771614642
|
0.00005
|
|
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)
|
rs587780763
|
0.00005
|
|
NM_002354.3(EPCAM):c.298G>A (p.Asp100Asn)
|
rs149274310
|
0.00005
|
|
NM_002354.3(EPCAM):c.450C>G (p.His150Gln)
|
rs864622724
|
0.00005
|
|
NM_002439.5(MSH3):c.2069A>G (p.Asn690Ser)
|
rs575779178
|
0.00005
|
|
NM_002439.5(MSH3):c.2125T>C (p.Phe709Leu)
|
rs1805354
|
0.00005
|
|
NM_002439.5(MSH3):c.2176A>C (p.Ile726Leu)
|
rs752400305
|
0.00005
|
|
NM_002439.5(MSH3):c.2290A>T (p.Ile764Leu)
|
rs146657445
|
0.00005
|
|
NM_002439.5(MSH3):c.2780C>T (p.Ala927Val)
|
rs766261257
|
0.00005
|
|
NM_002439.5(MSH3):c.331_333del (p.Ser111del)
|
rs753775000
|
0.00005
|
|
NM_002439.5(MSH3):c.353A>T (p.Asn118Ile)
|
rs372970933
|
0.00005
|
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
|
NM_003243.5(TGFBR3):c.2519C>T (p.Thr840Met)
|
rs193920827
|
0.00005
|
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
|
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)
|
rs201481342
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_004360.5(CDH1):c.2363C>T (p.Ala788Val)
|
rs139096339
|
0.00005
|
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
|
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser)
|
rs1455462308
|
0.00005
|
|
NM_004655.4(AXIN2):c.2249C>T (p.Pro750Leu)
|
rs772888193
|
0.00005
|
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
|
NM_005228.5(EGFR):c.3092G>A (p.Arg1031Gln)
|
rs570295933
|
0.00005
|
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
|
NM_017763.6(RNF43):c.686C>T (p.Pro229Leu)
|
rs763974538
|
0.00005
|
|
NM_017763.6(RNF43):c.79C>T (p.Arg27Cys)
|
rs138226300
|
0.00005
|
|
NM_020975.6(RET):c.1250G>A (p.Arg417His)
|
rs201030628
|
0.00005
|
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
|
NM_020975.6(RET):c.1441C>G (p.Leu481Val)
|
rs767210575
|
0.00005
|
|
NM_020975.6(RET):c.230G>A (p.Arg77His)
|
rs570176656
|
0.00005
|
|
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)
|
rs372191563
|
0.00005
|
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
|
NM_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
|
NM_024426.6(WT1):c.730T>A (p.Phe244Ile)
|
rs771455202
|
0.00005
|
|
NM_024529.5(CDC73):c.*1251A>G
|
rs550417983
|
0.00005
|
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
rs577651839
|
0.00005
|
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
|
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)
|
rs150051278
|
0.00005
|
|
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)
|
rs756787389
|
0.00005
|
|
NM_177438.3(DICER1):c.*1395_*1396del
|
rs756671135
|
0.00005
|
|
NM_182643.3(DLC1):c.857A>G (p.Asn286Ser)
|
rs374190119
|
0.00005
|
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
|
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
|
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
|
NM_206937.2(LIG4):c.381G>C (p.Met127Ile)
|
rs61752350
|
0.00005
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.476-3C>A
|
rs371431745
|
0.00004
|
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
|
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)
|
rs373277796
|
0.00004
|
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
|
NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala)
|
rs377356882
|
0.00004
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
|
NM_000179.3(MSH6):c.2974G>A (p.Glu992Lys)
|
rs774755404
|
0.00004
|
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00004
|
|
NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu)
|
rs780345806
|
0.00004
|
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
|
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)
|
rs768042560
|
0.00004
|
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
|
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)
|
rs768847037
|
0.00004
|
|
NM_000245.4(MET):c.*221G>A
|
rs886061946
|
0.00004
|
|
NM_000245.4(MET):c.*76C>T
|
rs527496385
|
0.00004
|
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
0.00004
|
|
NM_000245.4(MET):c.1320A>G (p.Thr440=)
|
rs763726060
|
0.00004
|
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
|
NM_000245.4(MET):c.2113A>G (p.Ser705Gly)
|
rs781110968
|
0.00004
|
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
|
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro)
|
rs771328219
|
0.00004
|
|
NM_000245.4(MET):c.341A>T (p.Asp114Val)
|
rs773659883
|
0.00004
|
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00004
|
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
|
NM_000245.4(MET):c.428G>A (p.Arg143Gln)
|
rs35469582
|
0.00004
|
|
NM_000245.4(MET):c.510C>G (p.Ser170Arg)
|
rs587778442
|
0.00004
|
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
|
NM_000249.4(MLH1):c.1227G>C (p.Gln409His)
|
rs775776362
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
|
NM_000249.4(MLH1):c.237G>T (p.Arg79Ser)
|
rs752850761
|
0.00004
|
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
|
NM_000251.1(MSH2):c.-225G>C
|
rs138068023
|
0.00004
|
|
NM_000251.2(MSH2):c.-76G>A
|
rs34355730
|
0.00004
|
|
NM_000251.3(MSH2):c.*32G>C
|
rs192502889
|
0.00004
|
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
|
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)
|
rs587779962
|
0.00004
|
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00004
|
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
|
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)
|
rs551236465
|
0.00004
|
|
NM_000251.3(MSH2):c.928C>G (p.Leu310Val)
|
rs750866402
|
0.00004
|
|
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)
|
rs368982417
|
0.00004
|
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
|
NM_000321.3(RB1):c.*1707C>T
|
rs755984043
|
0.00004
|
|
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)
|
rs587778640
|
0.00004
|
|
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)
|
rs769696726
|
0.00004
|
|
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys)
|
rs529366765
|
0.00004
|
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
|
NM_000321.3(RB1):c.941T>A (p.Val314Asp)
|
rs780006952
|
0.00004
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
|
NM_000465.4(BARD1):c.*38C>T
|
rs751500588
|
0.00004
|
|
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe)
|
rs185164724
|
0.00004
|
|
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr)
|
rs587782040
|
0.00004
|
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
|
NM_000465.4(BARD1):c.1646A>G (p.Asn549Ser)
|
rs755346126
|
0.00004
|
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
|
NM_000465.4(BARD1):c.1904-3C>G
|
rs876660360
|
0.00004
|
|
NM_000465.4(BARD1):c.2172G>T (p.Ala724=)
|
rs143331809
|
0.00004
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
|
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr)
|
rs199780731
|
0.00004
|
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.61C>G (p.Arg21Gly)
|
rs864622206
|
0.00004
|
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
|
NM_000465.4(BARD1):c.692C>T (p.Ser231Phe)
|
rs758140052
|
0.00004
|
|
NM_000465.4(BARD1):c.737C>A (p.Pro246Gln)
|
rs151325889
|
0.00004
|
|
NM_000465.4(BARD1):c.76A>G (p.Met26Val)
|
rs587781570
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
|
NM_000535.6(PMS2):c.-46T>A
|
rs765248325
|
0.00004
|
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
|
NM_000535.7(PMS2):c.1239A>G (p.Lys413=)
|
rs1244752544
|
0.00004
|
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
0.00004
|
|
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)
|
rs749826312
|
0.00004
|
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
|
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala)
|
rs376931673
|
0.00004
|
|
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg)
|
rs876660161
|
0.00004
|
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00004
|
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
|
NM_000696.4(ALDH9A1):c.265T>C (p.Trp89Arg)
|
rs140581841
|
0.00004
|
|
NM_001040108.2(MLH3):c.-149G>C
|
rs886050783
|
0.00004
|
|
NM_001040108.2(MLH3):c.1082A>G (p.Asp361Gly)
|
rs749840648
|
0.00004
|
|
NM_001040108.2(MLH3):c.1388G>A (p.Ser463Asn)
|
rs144313410
|
0.00004
|
|
NM_001040108.2(MLH3):c.1724A>G (p.His575Arg)
|
rs141572255
|
0.00004
|
|
NM_001040108.2(MLH3):c.1827A>G (p.Ile609Met)
|
rs374951352
|
0.00004
|
|
NM_001040108.2(MLH3):c.1925T>C (p.Phe642Ser)
|
rs777245092
|
0.00004
|
|
NM_001040108.2(MLH3):c.2000G>C (p.Gly667Ala)
|
rs200093225
|
0.00004
|
|
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg)
|
rs148876417
|
0.00004
|
|
NM_001040108.2(MLH3):c.2126T>C (p.Ile709Thr)
|
rs750178172
|
0.00004
|
|
NM_001040108.2(MLH3):c.2336C>A (p.Thr779Asn)
|
rs757053892
|
0.00004
|
|
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=)
|
rs764724825
|
0.00004
|
|
NM_001040108.2(MLH3):c.2548C>G (p.Pro850Ala)
|
rs575583330
|
0.00004
|
|
NM_001040108.2(MLH3):c.2752G>T (p.Asp918Tyr)
|
rs762167939
|
0.00004
|
|
NM_001040108.2(MLH3):c.3053G>A (p.Gly1018Glu)
|
rs147325766
|
0.00004
|
|
NM_001040108.2(MLH3):c.3325C>T (p.Pro1109Ser)
|
rs140997957
|
0.00004
|
|
NM_001040108.2(MLH3):c.3356C>T (p.Thr1119Ile)
|
rs140127407
|
0.00004
|
|
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys)
|
rs113490514
|
0.00004
|
|
NM_001040108.2(MLH3):c.3565A>C (p.Met1189Leu)
|
rs557233869
|
0.00004
|
|
NM_001040108.2(MLH3):c.3688C>T (p.Arg1230Cys)
|
rs746431837
|
0.00004
|
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
|
NM_001040108.2(MLH3):c.449A>G (p.Asn150Ser)
|
rs141079562
|
0.00004
|
|
NM_001040108.2(MLH3):c.598C>T (p.Gln200Ter)
|
rs1039843487
|
0.00004
|
|
NM_001040108.2(MLH3):c.629G>A (p.Arg210Gln)
|
rs143631202
|
0.00004
|
|
NM_001040108.2(MLH3):c.884G>A (p.Arg295Gln)
|
rs774323111
|
0.00004
|
|
NM_001040108.2(MLH3):c.890G>A (p.Arg297Gln)
|
rs374212925
|
0.00004
|
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)
|
rs200229669
|
0.00004
|
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
|
NM_001127511.3(APC):c.-167G>A
|
rs1278244063
|
0.00004
|
|
NM_001161630.1(KDM4E):c.1493A>G (p.Asn498Ser)
|
rs869025228
|
0.00004
|
|
NM_001166108.2(PALLD):c.*2022A>G
|
rs886059216
|
0.00004
|
|
NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu)
|
rs201816881
|
0.00004
|
|
NM_001166108.2(PALLD):c.1965-12673C>T
|
rs925242863
|
0.00004
|
|
NM_001166108.2(PALLD):c.1965-12777C>T
|
rs864622140
|
0.00004
|
|
NM_001166108.2(PALLD):c.1965-12795C>T
|
rs587780759
|
0.00004
|
|
NM_001166108.2(PALLD):c.1965-12928G>A
|
rs587780753
|
0.00004
|
|
NM_001166108.2(PALLD):c.2072A>G (p.Lys691Arg)
|
rs144380526
|
0.00004
|
|
NM_001166108.2(PALLD):c.2092G>T (p.Gly698Cys)
|
rs143417961
|
0.00004
|
|
NM_001166108.2(PALLD):c.2356G>A (p.Val786Met)
|
rs587780197
|
0.00004
|
|
NM_001166108.2(PALLD):c.2719C>G (p.Pro907Ala)
|
rs141155457
|
0.00004
|
|
NM_001166108.2(PALLD):c.2894G>A (p.Gly965Glu)
|
rs760392120
|
0.00004
|
|
NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys)
|
rs151071844
|
0.00004
|
|
NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln)
|
rs376394488
|
0.00004
|
|
NM_001166108.2(PALLD):c.3269G>A (p.Gly1090Glu)
|
rs587780756
|
0.00004
|
|
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)
|
rs373256667
|
0.00004
|
|
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)
|
rs747886467
|
0.00004
|
|
NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg)
|
rs193920995
|
0.00004
|
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
0.00004
|
|
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)
|
rs2056451758
|
0.00004
|
|
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)
|
rs759078185
|
0.00004
|
|
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile)
|
rs757570529
|
0.00004
|
|
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser)
|
rs752288830
|
0.00004
|
|
NM_002337.4(LRPAP1):c.347A>G (p.Asn116Ser)
|
rs34897511
|
0.00004
|
|
NM_002354.3(EPCAM):c.-79C>T
|
rs886056131
|
0.00004
|
|
NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser)
|
rs587780764
|
0.00004
|
|
NM_002354.3(EPCAM):c.533C>T (p.Pro178Leu)
|
rs772471530
|
0.00004
|
|
NM_002439.5(MSH3):c.1001A>T (p.Tyr334Phe)
|
rs774838967
|
0.00004
|
|
NM_002439.5(MSH3):c.143A>C (p.Asp48Ala)
|
rs773388641
|
0.00004
|
|
NM_002439.5(MSH3):c.1655C>T (p.Thr552Ile)
|
rs749862056
|
0.00004
|
|
NM_002439.5(MSH3):c.1858G>A (p.Asp620Asn)
|
rs200337887
|
0.00004
|
|
NM_002439.5(MSH3):c.2194G>A (p.Glu732Lys)
|
rs369843843
|
0.00004
|
|
NM_002439.5(MSH3):c.2557G>C (p.Glu853Gln)
|
rs200185323
|
0.00004
|
|
NM_002439.5(MSH3):c.3290T>C (p.Ile1097Thr)
|
rs377191897
|
0.00004
|
|
NM_002439.5(MSH3):c.439C>T (p.Pro147Ser)
|
rs977366961
|
0.00004
|
|
NM_002439.5(MSH3):c.692C>T (p.Pro231Leu)
|
rs201748817
|
0.00004
|
|
NM_002439.5(MSH3):c.845C>T (p.Thr282Ile)
|
rs202184623
|
0.00004
|
|
NM_002439.5(MSH3):c.982C>T (p.Arg328Trp)
|
rs745412081
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met)
|
rs145081333
|
0.00004
|
|
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)
|
rs757031354
|
0.00004
|
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
|
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys)
|
rs778049192
|
0.00004
|
|
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)
|
rs767638396
|
0.00004
|
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
|
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)
|
rs777647740
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser)
|
rs373590049
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4119C>G (p.His1373Gln)
|
rs751704331
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4585G>A (p.Val1529Ile)
|
rs777829717
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp)
|
rs766797299
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
|
NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg)
|
rs759754994
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)
|
rs376302558
|
0.00004
|
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
|
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)
|
rs923739321
|
0.00004
|
|
NM_004360.4(CDH1):c.-288del
|
rs5030658
|
0.00004
|
|
NM_004360.5(CDH1):c.*1049A>C
|
rs886052244
|
0.00004
|
|
NM_004360.5(CDH1):c.*1285T>C
|
rs369689471
|
0.00004
|
|
NM_004360.5(CDH1):c.*193G>C
|
rs886052238
|
0.00004
|
|
NM_004360.5(CDH1):c.-41C>A
|
rs730881658
|
0.00004
|
|
NM_004360.5(CDH1):c.-44G>A
|
rs886041159
|
0.00004
|
|
NM_004360.5(CDH1):c.-63C>A
|
rs572272864
|
0.00004
|
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
|
NM_004360.5(CDH1):c.1687G>T (p.Ala563Ser)
|
rs587782044
|
0.00004
|
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2249A>G (p.Asp750Gly)
|
rs759608783
|
0.00004
|
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2348C>T (p.Thr783Ile)
|
rs876658467
|
0.00004
|
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
|
NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)
|
rs772173832
|
0.00004
|
|
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val)
|
rs587782024
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004360.5(CDH1):c.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
|
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)
|
rs746522150
|
0.00004
|
|
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
|
rs892805896
|
0.00004
|
|
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro)
|
rs936973108
|
0.00004
|
|
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser)
|
rs1027991203
|
0.00004
|
|
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe)
|
rs1300977671
|
0.00004
|
|
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala)
|
rs1250168874
|
0.00004
|
|
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
|
rs1306818311
|
0.00004
|
|
NM_004484.4(GPC3):c.293T>C (p.Met98Thr)
|
rs1007159317
|
0.00004
|
|
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)
|
rs144001694
|
0.00004
|
|
NM_004655.4(AXIN2):c.1058C>T (p.Pro353Leu)
|
rs771677461
|
0.00004
|
|
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys)
|
rs749846538
|
0.00004
|
|
NM_004655.4(AXIN2):c.1411C>T (p.His471Tyr)
|
rs544255284
|
0.00004
|
|
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys)
|
rs368289818
|
0.00004
|
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
|
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser)
|
rs547630327
|
0.00004
|
|
NM_004655.4(AXIN2):c.544A>G (p.Met182Val)
|
rs976524379
|
0.00004
|
|
NM_004655.4(AXIN2):c.955G>A (p.Val319Ile)
|
rs913060347
|
0.00004
|
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
|
NM_005228.5(EGFR):c.1936A>C (p.Ile646Leu)
|
rs140516819
|
0.00004
|
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
|
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
|
rs137952228
|
0.00004
|
|
NM_005612.5(REST):c.1344A>G (p.Ile448Met)
|
rs778247936
|
0.00004
|
|
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile)
|
rs367925756
|
0.00004
|
|
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)
|
rs748377319
|
0.00004
|
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
|
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)
|
rs748008084
|
0.00004
|
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)
|
rs587780178
|
0.00004
|
|
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe)
|
rs765799649
|
0.00004
|
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
|
NM_007194.4(CHEK2):c.910A>G (p.Met304Val)
|
rs769436449
|
0.00004
|
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
|
NM_017763.6(RNF43):c.2090A>G (p.His697Arg)
|
rs562828978
|
0.00004
|
|
NM_017763.6(RNF43):c.443C>G (p.Ala148Gly)
|
rs142178517
|
0.00004
|
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
|
NM_018310.4(BRF2):c.277G>A (p.Ala93Thr)
|
rs142395337
|
0.00004
|
|
NM_019040.5(ELP4):c.*3207T>C
|
rs1010978990
|
0.00004
|
|
NM_020975.6(RET):c.-37G>C
|
rs751005619
|
0.00004
|
|
NM_020975.6(RET):c.1088C>T (p.Ser363Phe)
|
rs766881522
|
0.00004
|
|
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)
|
rs763670106
|
0.00004
|
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
|
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
|
NM_020975.6(RET):c.1724C>T (p.Thr575Ile)
|
rs587780808
|
0.00004
|
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
|
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)
|
rs748799148
|
0.00004
|
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
|
NM_020975.6(RET):c.2498G>A (p.Arg833His)
|
rs587782636
|
0.00004
|
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
|
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)
|
rs758800351
|
0.00004
|
|
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)
|
rs757373375
|
0.00004
|
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
|
NM_020975.6(RET):c.509C>T (p.Thr170Ile)
|
rs200547906
|
0.00004
|
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
|
NM_021008.4(DEAF1):c.1526G>A (p.Arg509Gln)
|
rs193920740
|
0.00004
|
|
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)
|
rs559896573
|
0.00004
|
|
NM_024045.2(DDX50):c.122C>T (p.Ser41Leu)
|
rs374203626
|
0.00004
|
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
|
NM_024426.6(WT1):c.70C>T (p.Arg24Cys)
|
rs878855086
|
0.00004
|
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
|
NM_024426.6(WT1):c.925A>G (p.Met309Val)
|
rs754336808
|
0.00004
|
|
NM_024529.5(CDC73):c.*1074A>T
|
rs886045718
|
0.00004
|
|
NM_024529.5(CDC73):c.*1092A>G
|
rs886045720
|
0.00004
|
|
NM_024529.5(CDC73):c.*2455C>T
|
rs886045729
|
0.00004
|
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00004
|
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
|
NM_024870.4(PREX2):c.1444-4G>A
|
rs193920825
|
0.00004
|
|
NM_025113.5(RUBCNL):c.1141C>T (p.Arg381Ter)
|
rs193920942
|
0.00004
|
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly)
|
rs1170174893
|
0.00004
|
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu)
|
rs781161922
|
0.00004
|
|
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)
|
rs746362966
|
0.00004
|
|
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)
|
rs1194767470
|
0.00004
|
|
NM_144997.7(FLCN):c.716G>A (p.Arg239His)
|
rs753948488
|
0.00004
|
|
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)
|
rs749758787
|
0.00004
|
|
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)
|
rs55860727
|
0.00004
|
|
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp)
|
rs774271782
|
0.00004
|
|
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val)
|
rs564224919
|
0.00004
|
|
NM_177438.3(DICER1):c.3422C>T (p.Ser1141Phe)
|
rs780815020
|
0.00004
|
|
NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu)
|
rs193920826
|
0.00004
|
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
|
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)
|
rs730881239
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
|
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)
|
rs587779807
|
0.00003
|
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
|
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)
|
rs876659240
|
0.00003
|
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
|
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)
|
rs761251711
|
0.00003
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
|
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)
|
rs587779850
|
0.00003
|
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
|
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)
|
rs776227830
|
0.00003
|
|
NM_000051.4(ATM):c.7213A>G (p.Met2405Val)
|
rs587781323
|
0.00003
|
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
0.00003
|
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
|
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)
|
rs776196396
|
0.00003
|
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
|
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)
|
rs276174886
|
0.00003
|
|
NM_000059.4(BRCA2):c.7270A>G (p.Arg2424Gly)
|
rs786202621
|
0.00003
|
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
rs80358954
|
0.00003
|
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
rs80359244
|
0.00003
|
|
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)
|
rs116715649
|
0.00003
|
|
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)
|
rs745352643
|
0.00003
|
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
|
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr)
|
rs748322657
|
0.00003
|
|
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)
|
rs747171741
|
0.00003
|
|
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)
|
rs745848425
|
0.00003
|
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1025C>G (p.Ala342Gly)
|
rs753617680
|
0.00003
|
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
|
NM_000179.3(MSH6):c.115G>A (p.Gly39Arg)
|
rs751838296
|
0.00003
|
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
|
NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile)
|
rs587781657
|
0.00003
|
|
NM_000179.3(MSH6):c.1403G>C (p.Arg468Pro)
|
rs41295268
|
0.00003
|
|
NM_000179.3(MSH6):c.1525G>C (p.Val509Leu)
|
rs876660317
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
|
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)
|
rs373418713
|
0.00003
|
|
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)
|
rs537604099
|
0.00003
|
|
NM_000179.3(MSH6):c.2195G>C (p.Arg732Pro)
|
rs749746725
|
0.00003
|
|
NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)
|
rs745442468
|
0.00003
|
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
|
NM_000179.3(MSH6):c.2569G>A (p.Asp857Asn)
|
rs368437140
|
0.00003
|
|
NM_000179.3(MSH6):c.2584C>G (p.Leu862Val)
|
rs1187393388
|
0.00003
|
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
|
NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser)
|
rs772978164
|
0.00003
|
|
NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)
|
rs587781593
|
0.00003
|
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
|
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)
|
rs587779930
|
0.00003
|
|
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)
|
rs372103816
|
0.00003
|
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
|
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)
|
rs369778514
|
0.00003
|
|
NM_000179.3(MSH6):c.362G>A (p.Arg121His)
|
rs769279475
|
0.00003
|
|
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)
|
rs876661084
|
0.00003
|
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
|
NM_000179.3(MSH6):c.3845C>A (p.Thr1282Asn)
|
rs876660361
|
0.00003
|
|
NM_000179.3(MSH6):c.389A>G (p.His130Arg)
|
rs1064793184
|
0.00003
|
|
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)
|
rs267608129
|
0.00003
|
|
NM_000179.3(MSH6):c.3968T>C (p.Phe1323Ser)
|
rs1051564593
|
0.00003
|
|
NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg)
|
rs876658189
|
0.00003
|
|
NM_000179.3(MSH6):c.3978G>A (p.Met1326Ile)
|
rs141464646
|
0.00003
|
|
NM_000179.3(MSH6):c.3979A>T (p.Asn1327Tyr)
|
rs756216566
|
0.00003
|
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
|
NM_000179.3(MSH6):c.627G>A (p.Glu209=)
|
rs769312569
|
0.00003
|
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00003
|
|
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)
|
rs773828910
|
0.00003
|
|
NM_000245.4(MET):c.*2051C>T
|
rs886061951
|
0.00003
|
|
NM_000245.4(MET):c.*296G>C
|
rs1237383281
|
0.00003
|
|
NM_000245.4(MET):c.1235G>A (p.Arg412His)
|
rs371463233
|
0.00003
|
|
NM_000245.4(MET):c.1279G>A (p.Val427Ile)
|
rs376364468
|
0.00003
|
|
NM_000245.4(MET):c.1291A>G (p.Met431Val)
|
rs766929091
|
0.00003
|
|
NM_000245.4(MET):c.1408T>A (p.Ser470Thr)
|
rs1484724510
|
0.00003
|
|
NM_000245.4(MET):c.1510G>T (p.Val504Phe)
|
rs587780735
|
0.00003
|
|
NM_000245.4(MET):c.1643C>T (p.Ser548Leu)
|
rs767715328
|
0.00003
|
|
NM_000245.4(MET):c.1972G>A (p.Val658Ile)
|
rs587778446
|
0.00003
|
|
NM_000245.4(MET):c.2325G>T (p.Met775Ile)
|
rs748086754
|
0.00003
|
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
rs768678989
|
0.00003
|
|
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)
|
rs752641437
|
0.00003
|
|
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr)
|
rs1177400289
|
0.00003
|
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
|
NM_000245.4(MET):c.37G>A (p.Val13Met)
|
rs781777052
|
0.00003
|
|
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)
|
rs747239403
|
0.00003
|
|
NM_000245.4(MET):c.682T>C (p.Phe228Leu)
|
rs921083171
|
0.00003
|
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
|
NM_000245.4(MET):c.788C>T (p.Thr263Met)
|
rs764052874
|
0.00003
|
|
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)
|
rs1437454428
|
0.00003
|
|
NM_000249.4(MLH1):c.1067C>T (p.Ser356Phe)
|
rs749334262
|
0.00003
|
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
|
NM_000249.4(MLH1):c.1268G>C (p.Arg423Thr)
|
rs370687064
|
0.00003
|
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
|
NM_000249.4(MLH1):c.1562T>A (p.Leu521His)
|
rs1258738224
|
0.00003
|
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00003
|
|
NM_000249.4(MLH1):c.371G>A (p.Cys124Tyr)
|
rs730881736
|
0.00003
|
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
|
NM_000249.4(MLH1):c.409G>A (p.Ala137Thr)
|
rs756888142
|
0.00003
|
|
NM_000249.4(MLH1):c.453+14A>G
|
rs372525243
|
0.00003
|
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
|
NM_000249.4(MLH1):c.587A>C (p.Lys196Thr)
|
rs876659860
|
0.00003
|
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
|
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
|
rs749671520
|
0.00003
|
|
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly)
|
rs730882127
|
0.00003
|
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
|
NM_000251.3(MSH2):c.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.1511G>T (p.Gly504Val)
|
rs1191742655
|
0.00003
|
|
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)
|
rs755931648
|
0.00003
|
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.763A>C (p.Ser255Arg)
|
rs761529282
|
0.00003
|
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
|
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)
|
rs104895022
|
0.00003
|
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000321.3(RB1):c.*162T>G
|
rs886050273
|
0.00003
|
|
NM_000321.3(RB1):c.1745C>G (p.Pro582Arg)
|
rs757198343
|
0.00003
|
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
|
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)
|
rs554834063
|
0.00003
|
|
NM_000321.3(RB1):c.1922C>A (p.Pro641Gln)
|
rs1249069450
|
0.00003
|
|
NM_000321.3(RB1):c.2344A>G (p.Ile782Val)
|
rs1283644725
|
0.00003
|
|
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys)
|
rs143105337
|
0.00003
|
|
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
|
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)
|
rs767208122
|
0.00003
|
|
NM_000465.4(BARD1):c.1148T>A (p.Met383Lys)
|
rs763596413
|
0.00003
|
|
NM_000465.4(BARD1):c.1163T>C (p.Ile388Thr)
|
rs748322604
|
0.00003
|
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
|
NM_000465.4(BARD1):c.1622C>T (p.Ser541Leu)
|
rs777937955
|
0.00003
|
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
|
NM_000465.4(BARD1):c.1735T>G (p.Ser579Ala)
|
rs1553615143
|
0.00003
|
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
|
NM_000465.4(BARD1):c.1952A>G (p.Tyr651Cys)
|
rs1372548495
|
0.00003
|
|
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)
|
rs1064793959
|
0.00003
|
|
NM_000465.4(BARD1):c.2137G>A (p.Val713Met)
|
rs546077003
|
0.00003
|
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
|
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)
|
rs587782246
|
0.00003
|
|
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu)
|
rs780241203
|
0.00003
|
|
NM_000465.4(BARD1):c.281A>C (p.Asp94Ala)
|
rs757569689
|
0.00003
|
|
NM_000465.4(BARD1):c.44G>A (p.Arg15His)
|
rs545107676
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000465.4(BARD1):c.77T>G (p.Met26Arg)
|
rs759957629
|
0.00003
|
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
|
NM_000535.7(PMS2):c.120G>C (p.Lys40Asn)
|
rs1060504843
|
0.00003
|
|
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys)
|
rs748698776
|
0.00003
|
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
|
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)
|
rs138222146
|
0.00003
|
|
NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg)
|
rs751153838
|
0.00003
|
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
|
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln)
|
rs63751230
|
0.00003
|
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
0.00003
|
|
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)
|
rs748927376
|
0.00003
|
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000535.7(PMS2):c.2167C>T (p.Leu723Phe)
|
rs1456057054
|
0.00003
|
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
|
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr)
|
rs1064796041
|
0.00003
|
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
|
NM_000535.7(PMS2):c.408G>A (p.Met136Ile)
|
rs1064794077
|
0.00003
|
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
|
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser)
|
rs375553553
|
0.00003
|
|
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys)
|
rs141577476
|
0.00003
|
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
|
NM_001004459.2(OR1S2):c.463A>G (p.Ile155Val)
|
rs193921006
|
0.00003
|
|
NM_001029884.3(PLEKHG1):c.2293C>T (p.Arg765Trp)
|
rs193920959
|
0.00003
|
|
NM_001040108.2(MLH3):c.*1990T>A
|
rs886050769
|
0.00003
|
|
NM_001040108.2(MLH3):c.*2679A>G
|
rs1018604766
|
0.00003
|
|
NM_001040108.2(MLH3):c.*3105C>G
|
rs543449865
|
0.00003
|
|
NM_001040108.2(MLH3):c.1156G>A (p.Glu386Lys)
|
rs142081869
|
0.00003
|
|
NM_001040108.2(MLH3):c.1585A>C (p.Lys529Gln)
|
rs1004546185
|
0.00003
|
|
NM_001040108.2(MLH3):c.1619A>G (p.Asn540Ser)
|
rs768855148
|
0.00003
|
|
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)
|
rs61755653
|
0.00003
|
|
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His)
|
rs186838169
|
0.00003
|
|
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser)
|
rs377337763
|
0.00003
|
|
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys)
|
rs143865811
|
0.00003
|
|
NM_001040108.2(MLH3):c.3136C>T (p.Arg1046Trp)
|
rs765313787
|
0.00003
|
|
NM_001040108.2(MLH3):c.3235A>G (p.Thr1079Ala)
|
rs200350079
|
0.00003
|
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
|
NM_001040108.2(MLH3):c.3676G>A (p.Ala1226Thr)
|
rs747817741
|
0.00003
|
|
NM_001040108.2(MLH3):c.405del (p.Asp136fs)
|
rs1892496921
|
0.00003
|
|
NM_001040108.2(MLH3):c.4097T>C (p.Ile1366Thr)
|
rs61752724
|
0.00003
|
|
NM_001040108.2(MLH3):c.4186G>T (p.Gly1396Trp)
|
rs368876363
|
0.00003
|
|
NM_001040108.2(MLH3):c.443T>C (p.Val148Ala)
|
rs1484161045
|
0.00003
|
|
NM_001040108.2(MLH3):c.806A>G (p.Asp269Gly)
|
rs761744465
|
0.00003
|
|
NM_001040108.2(MLH3):c.958T>G (p.Cys320Gly)
|
rs1334932761
|
0.00003
|
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
|
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
|
rs771641237
|
0.00003
|
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
|
NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn)
|
rs193920904
|
0.00003
|
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
|
NM_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
|
NM_001127511.3(APC):c.-32C>T
|
rs1015952631
|
0.00003
|
|
NM_001127511.3(APC):c.-88T>G
|
rs531931776
|
0.00003
|
|
NM_001127511.3(APC):c.1A>G (p.Met1Val)
|
rs189807660
|
0.00003
|
|
NM_001134658.3(SLC35G1):c.427G>A (p.Ala143Thr)
|
rs144043787
|
0.00003
|
|
NM_001166108.2(PALLD):c.*1655A>T
|
rs976050795
|
0.00003
|
|
NM_001166108.2(PALLD):c.*1808C>T
|
rs539762995
|
0.00003
|
|
NM_001166108.2(PALLD):c.*908A>G
|
rs886059212
|
0.00003
|
|
NM_001166108.2(PALLD):c.1965-12637C>G
|
rs878854264
|
0.00003
|
|
NM_001166108.2(PALLD):c.1965-12692_1965-12681dup
|
rs778313832
|
0.00003
|
|
NM_001166108.2(PALLD):c.1965-12903C>G
|
rs1476099718
|
0.00003
|
|
NM_001166108.2(PALLD):c.1965-12913A>C
|
rs864622422
|
0.00003
|
|
NM_001166108.2(PALLD):c.2326G>C (p.Glu776Gln)
|
rs559000839
|
0.00003
|
|
NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr)
|
rs587780200
|
0.00003
|
|
NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu)
|
rs370652817
|
0.00003
|
|
NM_001166108.2(PALLD):c.2944G>A (p.Gly982Arg)
|
rs115988233
|
0.00003
|
|
NM_001166108.2(PALLD):c.3229C>T (p.His1077Tyr)
|
rs778210310
|
0.00003
|
|
NM_001166108.2(PALLD):c.3244G>A (p.Gly1082Ser)
|
rs745362518
|
0.00003
|
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
0.00003
|
|
NM_001323032.3(SV2B):c.1537C>T (p.Arg513Trp)
|
rs193920952
|
0.00003
|
|
NM_001346516.2(LCOR):c.2564G>A (p.Arg855His)
|
rs746615879
|
0.00003
|
|
NM_001387283.1(SMARCA4):c.4190T>G (p.Ile1397Ser)
|
rs534766933
|
0.00003
|
|
NM_001612.6(ACRV1):c.623C>T (p.Thr208Ile)
|
rs193921098
|
0.00003
|
|
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)
|
rs922736848
|
0.00003
|
|
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)
|
rs370315332
|
0.00003
|
|
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)
|
rs758682659
|
0.00003
|
|
NM_002354.3(EPCAM):c.194A>C (p.Lys65Thr)
|
rs864622746
|
0.00003
|
|
NM_002354.3(EPCAM):c.517C>T (p.Arg173Cys)
|
rs747286107
|
0.00003
|
|
NM_002354.3(EPCAM):c.518G>A (p.Arg173His)
|
rs771569331
|
0.00003
|
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
|
NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser)
|
rs587780769
|
0.00003
|
|
NM_002354.3(EPCAM):c.658-6A>G
|
rs768723264
|
0.00003
|
|
NM_002439.5(MSH3):c.1396A>G (p.Ser466Gly)
|
rs766948921
|
0.00003
|
|
NM_002439.5(MSH3):c.145C>T (p.Pro49Ser)
|
rs775307118
|
0.00003
|
|
NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln)
|
rs776668872
|
0.00003
|
|
NM_002439.5(MSH3):c.1910A>C (p.Glu637Ala)
|
rs376488647
|
0.00003
|
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
|
NM_002439.5(MSH3):c.2542A>G (p.Arg848Gly)
|
rs371547241
|
0.00003
|
|
NM_002439.5(MSH3):c.2623G>A (p.Asp875Asn)
|
rs146185367
|
0.00003
|
|
NM_002439.5(MSH3):c.2762A>G (p.Tyr921Cys)
|
rs190723980
|
0.00003
|
|
NM_002439.5(MSH3):c.2876C>G (p.Thr959Arg)
|
rs778941230
|
0.00003
|
|
NM_002439.5(MSH3):c.3166C>T (p.Leu1056Phe)
|
rs188074706
|
0.00003
|
|
NM_002439.5(MSH3):c.923A>T (p.Lys308Met)
|
rs746243211
|
0.00003
|
|
NM_002485.5(NBN):c.139G>A (p.Val47Met)
|
rs876658446
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr)
|
rs764737760
|
0.00003
|
|
NM_002829.4(PTPN3):c.632C>T (p.Ala211Val)
|
rs193920798
|
0.00003
|
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)
|
rs111491424
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1090G>A (p.Val364Met)
|
rs1020163987
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1420-3C>T
|
rs777295398
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)
|
rs1043517699
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2020C>A (p.Pro674Thr)
|
rs780569107
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)
|
rs776672640
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)
|
rs765989895
|
0.00003
|
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4211T>C (p.Val1404Ala)
|
rs1240862092
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly)
|
rs373390083
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4294G>A (p.Asp1432Asn)
|
rs755295556
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4673C>T (p.Thr1558Ile)
|
rs765873407
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4682G>A (p.Arg1561Gln)
|
rs201258822
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
|
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)
|
rs1368858108
|
0.00003
|
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
|
NM_003739.6(AKR1C3):c.27G>T (p.Lys9Asn)
|
rs193920842
|
0.00003
|
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
|
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)
|
rs555976452
|
0.00003
|
|
NM_004360.5(CDH1):c.*409T>A
|
rs778711236
|
0.00003
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1318A>G (p.Lys440Glu)
|
rs778212100
|
0.00003
|
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)
|
rs730881666
|
0.00003
|
|
NM_004360.5(CDH1):c.1585A>C (p.Thr529Pro)
|
rs776890776
|
0.00003
|
|
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly)
|
rs587781329
|
0.00003
|
|
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser)
|
rs587782061
|
0.00003
|
|
NM_004360.5(CDH1):c.1783C>T (p.Pro595Ser)
|
rs755622441
|
0.00003
|
|
NM_004360.5(CDH1):c.1796C>T (p.Thr599Ile)
|
rs377302798
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.2052C>T (p.Ser684=)
|
rs764379691
|
0.00003
|
|
NM_004360.5(CDH1):c.2072C>A (p.Ala691Asp)
|
rs569086883
|
0.00003
|
|
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)
|
rs376854556
|
0.00003
|
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
|
NM_004360.5(CDH1):c.2350C>T (p.Arg784Cys)
|
rs775922721
|
0.00003
|
|
NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp)
|
rs777363517
|
0.00003
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.61C>G (p.Leu21Val)
|
rs863224729
|
0.00003
|
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
|
NM_004360.5(CDH1):c.832+17G>C
|
rs373179391
|
0.00003
|
|
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)
|
rs587778192
|
0.00003
|
|
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)
|
rs775099224
|
0.00003
|
|
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)
|
rs1060502122
|
0.00003
|
|
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp)
|
rs1555742243
|
0.00003
|
|
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)
|
rs1311096326
|
0.00003
|
|
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)
|
rs1328994773
|
0.00003
|
|
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys)
|
rs1408671093
|
0.00003
|
|
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val)
|
rs957167825
|
0.00003
|
|
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
|
rs867463920
|
0.00003
|
|
NM_004484.4(GPC3):c.257G>A (p.Arg86Gln)
|
rs1158430569
|
0.00003
|
|
NM_004484.4(GPC3):c.607C>T (p.Arg203Cys)
|
rs756480292
|
0.00003
|
|
NM_004484.4(GPC3):c.856A>G (p.Met286Val)
|
rs763327506
|
0.00003
|
|
NM_004562.3(PRKN):c.1001G>A (p.Arg334His)
|
rs746215864
|
0.00003
|
|
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met)
|
rs761901627
|
0.00003
|
|
NM_004655.4(AXIN2):c.1179G>C (p.Glu393Asp)
|
rs922684515
|
0.00003
|
|
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala)
|
rs779863826
|
0.00003
|
|
NM_004655.4(AXIN2):c.1478C>G (p.Ser493Trp)
|
rs367697282
|
0.00003
|
|
NM_004655.4(AXIN2):c.1594G>A (p.Glu532Lys)
|
rs755551294
|
0.00003
|
|
NM_004655.4(AXIN2):c.1714G>A (p.Gly572Ser)
|
rs753824435
|
0.00003
|
|
NM_004655.4(AXIN2):c.1904A>G (p.His635Arg)
|
rs775207779
|
0.00003
|
|
NM_004655.4(AXIN2):c.2240A>G (p.His747Arg)
|
rs62640031
|
0.00003
|
|
NM_004655.4(AXIN2):c.607G>A (p.Gly203Arg)
|
rs62640027
|
0.00003
|
|
NM_004655.4(AXIN2):c.976C>T (p.Arg326Cys)
|
rs201387209
|
0.00003
|
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
|
NM_005373.3(MPL):c.22A>G (p.Met8Val)
|
rs572208458
|
0.00003
|
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
|
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
|
rs776753502
|
0.00003
|
|
NM_005431.2(XRCC2):c.641G>A (p.Arg214Gln)
|
rs368445278
|
0.00003
|
|
NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg)
|
rs147833197
|
0.00003
|
|
NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter)
|
rs727502865
|
0.00003
|
|
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)
|
rs773846607
|
0.00003
|
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile)
|
rs548796284
|
0.00003
|
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
|
NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys)
|
rs752624544
|
0.00003
|
|
NM_007294.4(BRCA1):c.4987-33C>T
|
rs367645566
|
0.00003
|
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
|
NM_012397.4(SERPINB13):c.893C>T (p.Ala298Val)
|
rs864622008
|
0.00003
|
|
NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)
|
rs779943666
|
0.00003
|
|
NM_014708.6(KNTC1):c.6626C>T (p.Ser2209Leu)
|
rs772156434
|
0.00003
|
|
NM_015062.5(PPRC1):c.904A>G (p.Ile302Val)
|
rs193920990
|
0.00003
|
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
|
NM_016373.4(WWOX):c.746G>A (p.Arg249His)
|
rs756703833
|
0.00003
|
|
NM_017763.6(RNF43):c.1157G>A (p.Arg386Gln)
|
rs769498996
|
0.00003
|
|
NM_017763.6(RNF43):c.1210C>T (p.Arg404Cys)
|
rs767761157
|
0.00003
|
|
NM_017763.6(RNF43):c.1310G>A (p.Arg437Gln)
|
rs140873038
|
0.00003
|
|
NM_017763.6(RNF43):c.1697G>A (p.Gly566Asp)
|
rs754444325
|
0.00003
|
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
|
NM_018023.5(YEATS2):c.3131C>T (p.Pro1044Leu)
|
rs376025260
|
0.00003
|
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
|
NM_019040.5(ELP4):c.*3303G>A
|
rs994285025
|
0.00003
|
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
|
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)
|
rs377767433
|
0.00003
|
|
NM_020975.6(RET):c.1018G>T (p.Val340Phe)
|
rs367737920
|
0.00003
|
|
NM_020975.6(RET):c.1063A>G (p.Arg355Gly)
|
rs145402131
|
0.00003
|
|
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)
|
rs770587835
|
0.00003
|
|
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)
|
rs140638866
|
0.00003
|
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
|
NM_020975.6(RET):c.1717G>A (p.Val573Met)
|
rs758766818
|
0.00003
|
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
|
NM_020975.6(RET):c.1771G>A (p.Val591Ile)
|
rs776013456
|
0.00003
|
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
|
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)
|
rs377767402
|
0.00003
|
|
NM_020975.6(RET):c.1878G>A (p.Gln626=)
|
rs147692872
|
0.00003
|
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
|
NM_020975.6(RET):c.2060A>G (p.Tyr687Cys)
|
rs778793244
|
0.00003
|
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
|
NM_020975.6(RET):c.2285-4T>G
|
rs376601566
|
0.00003
|
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
|
NM_020975.6(RET):c.2392+19T>C
|
rs778745375
|
0.00003
|
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
|
NM_020975.6(RET):c.2656C>T (p.Arg886Trp)
|
rs146838520
|
0.00003
|
|
NM_020975.6(RET):c.308A>G (p.His103Arg)
|
rs375390467
|
0.00003
|
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
|
NM_020975.6(RET):c.529C>T (p.Arg177Trp)
|
rs765654609
|
0.00003
|
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
|
NM_020975.6(RET):c.754G>A (p.Glu252Lys)
|
rs950977184
|
0.00003
|
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
|
NM_021186.5(ZP4):c.214G>A (p.Asp72Asn)
|
rs193920872
|
0.00003
|
|
NM_022055.2(KCNK12):c.*8525G>C
|
rs758564047
|
0.00003
|
|
NM_022481.6(ARAP3):c.2806C>T (p.Arg936Trp)
|
rs145752053
|
0.00003
|
|
NM_024426.6(WT1):c.*614A>C
|
rs886048219
|
0.00003
|
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00003
|
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
|
NM_024426.6(WT1):c.397C>A (p.Pro133Thr)
|
rs1202603651
|
0.00003
|
|
NM_024426.6(WT1):c.419C>T (p.Pro140Leu)
|
rs1164390603
|
0.00003
|
|
NM_024426.6(WT1):c.475G>A (p.Glu159Lys)
|
rs768165877
|
0.00003
|
|
NM_024426.6(WT1):c.661+6T>C
|
rs557166021
|
0.00003
|
|
NM_024529.5(CDC73):c.*2963A>G
|
rs886045731
|
0.00003
|
|
NM_024529.5(CDC73):c.*2982T>C
|
rs886045732
|
0.00003
|
|
NM_024529.5(CDC73):c.*463A>G
|
rs879039427
|
0.00003
|
|
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)
|
rs202209013
|
0.00003
|
|
NM_024529.5(CDC73):c.305C>T (p.Ala102Val)
|
rs778134705
|
0.00003
|
|
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)
|
rs145694828
|
0.00003
|
|
NM_024675.4(PALB2):c.109C>G (p.Arg37Gly)
|
rs200048921
|
0.00003
|
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
|
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg)
|
rs1060502789
|
0.00003
|
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
rs747842085
|
0.00003
|
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
|
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)
|
rs267604470
|
0.00003
|
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
rs541028076
|
0.00003
|
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
|
NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser)
|
rs766315705
|
0.00003
|
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
|
NM_024675.4(PALB2):c.2748+15C>T
|
rs749756493
|
0.00003
|
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.3311G>A (p.Gly1104Asp)
|
rs1060502798
|
0.00003
|
|
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)
|
rs755609496
|
0.00003
|
|
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)
|
rs45505500
|
0.00003
|
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
rs587782217
|
0.00003
|
|
NM_024675.4(PALB2):c.445A>C (p.Lys149Gln)
|
rs770680919
|
0.00003
|
|
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)
|
rs745553724
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
|
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met)
|
rs748001678
|
0.00003
|
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
|
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)
|
rs745367580
|
0.00003
|
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
|
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu)
|
rs773347072
|
0.00003
|
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
|
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys)
|
rs754280048
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile)
|
rs201672040
|
0.00003
|
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
|
NM_080746.3(RPL10L):c.94C>T (p.Arg32Cys)
|
rs193920822
|
0.00003
|
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
0.00003
|
|
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)
|
rs556510460
|
0.00003
|
|
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)
|
rs150439088
|
0.00003
|
|
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)
|
rs369115472
|
0.00003
|
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
|
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)
|
rs369906553
|
0.00003
|
|
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)
|
rs774491699
|
0.00003
|
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
|
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)
|
rs769250170
|
0.00003
|
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
|
NM_152792.4(ASPRV1):c.-158C>T
|
rs184561703
|
0.00003
|
|
NM_177438.3(DICER1):c.359A>T (p.Lys120Met)
|
rs1060503608
|
0.00003
|
|
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser)
|
rs746659265
|
0.00003
|
|
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)
|
rs758110675
|
0.00003
|
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
|
NM_198253.3(TERT):c.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
|
NM_207361.6(FREM2):c.3497G>A (p.Arg1166His)
|
rs193921142
|
0.00003
|
|
NM_000038.6(APC):c.1396A>G (p.Met466Val)
|
rs781364007
|
0.00002
|
|
NM_000038.6(APC):c.1538T>C (p.Val513Ala)
|
rs876658167
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.3437G>A (p.Arg1146His)
|
rs763486328
|
0.00002
|
|
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)
|
rs760999992
|
0.00002
|
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
|
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)
|
rs529543591
|
0.00002
|
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
|
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)
|
rs747797803
|
0.00002
|
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
|
NM_000044.6(AR):c.1885+3718A>G
|
rs889696386
|
0.00002
|
|
NM_000044.6(AR):c.7G>A (p.Val3Met)
|
rs778912582
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
|
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00002
|
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
|
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)
|
rs587781595
|
0.00002
|
|
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)
|
rs587780619
|
0.00002
|
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
|
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn)
|
rs764564211
|
0.00002
|
|
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)
|
rs750771205
|
0.00002
|
|
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg)
|
rs758180727
|
0.00002
|
|
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)
|
rs755618506
|
0.00002
|
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)
|
rs1341457041
|
0.00002
|
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00002
|
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
|
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)
|
rs730881375
|
0.00002
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
0.00002
|
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
|
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)
|
rs756951335
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
rs80358812
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
rs144784912
|
0.00002
|
|
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His)
|
rs80358910
|
0.00002
|
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
rs764248927
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
rs758884639
|
0.00002
|
|
NM_000059.4(BRCA2):c.8603A>G (p.Lys2868Arg)
|
rs759784406
|
0.00002
|
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00002
|
|
NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)
|
rs876661266
|
0.00002
|
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
|
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)
|
rs757846343
|
0.00002
|
|
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu)
|
rs372348666
|
0.00002
|
|
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu)
|
rs757125418
|
0.00002
|
|
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)
|
rs536181987
|
0.00002
|
|
NM_000141.5(FGFR2):c.1561+6C>T
|
rs781352732
|
0.00002
|
|
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)
|
rs1256546303
|
0.00002
|
|
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)
|
rs764892330
|
0.00002
|
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
|
NM_000179.3(MSH6):c.*6C>T
|
rs758445380
|
0.00002
|
|
NM_000179.3(MSH6):c.1007C>G (p.Thr336Ser)
|
rs587782102
|
0.00002
|
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
|
NM_000179.3(MSH6):c.1141G>A (p.Glu381Lys)
|
rs142111387
|
0.00002
|
|
NM_000179.3(MSH6):c.1159G>C (p.Asp387His)
|
rs746532720
|
0.00002
|
|
NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)
|
rs147136417
|
0.00002
|
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00002
|
|
NM_000179.3(MSH6):c.166_171dup (p.54GP[3])
|
rs786201776
|
0.00002
|
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
|
NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)
|
rs587779921
|
0.00002
|
|
NM_000179.3(MSH6):c.2032G>C (p.Glu678Gln)
|
rs751778243
|
0.00002
|
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
|
NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)
|
rs759403696
|
0.00002
|
|
NM_000179.3(MSH6):c.2258C>G (p.Ser753Cys)
|
rs876660934
|
0.00002
|
|
NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)
|
rs63750725
|
0.00002
|
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
|
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)
|
rs41294986
|
0.00002
|
|
NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)
|
rs749508276
|
0.00002
|
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
|
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)
|
rs772514245
|
0.00002
|
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
|
NM_000179.3(MSH6):c.2889C>T (p.Gly963=)
|
rs771726914
|
0.00002
|
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
|
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)
|
rs587779254
|
0.00002
|
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
|
NM_000179.3(MSH6):c.3524C>T (p.Thr1175Ile)
|
rs369583604
|
0.00002
|
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
|
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)
|
rs587781482
|
0.00002
|
|
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)
|
rs765247025
|
0.00002
|
|
NM_000179.3(MSH6):c.3698A>C (p.Lys1233Thr)
|
rs766557450
|
0.00002
|
|
NM_000179.3(MSH6):c.373A>G (p.Lys125Glu)
|
rs372352774
|
0.00002
|
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
|
NM_000179.3(MSH6):c.3965A>T (p.Glu1322Val)
|
rs763608368
|
0.00002
|
|
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp)
|
rs587779938
|
0.00002
|
|
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)
|
rs756216566
|
0.00002
|
|
NM_000179.3(MSH6):c.4000_4001+17dup
|
rs1064794929
|
0.00002
|
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
|
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)
|
rs863225420
|
0.00002
|
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00002
|
|
NM_000179.3(MSH6):c.541G>A (p.Glu181Lys)
|
rs569728764
|
0.00002
|
|
NM_000179.3(MSH6):c.628-8C>T
|
rs767991179
|
0.00002
|
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
|
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)
|
rs554884560
|
0.00002
|
|
NM_000179.3(MSH6):c.852T>C (p.Asp284=)
|
rs1057520320
|
0.00002
|
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
|
NM_000222.3(KIT):c.2057G>A (p.Arg686His)
|
rs143772138
|
0.00002
|
|
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)
|
rs139000082
|
0.00002
|
|
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)
|
rs587778433
|
0.00002
|
|
NM_000245.4(MET):c.*530G>A
|
rs185897782
|
0.00002
|
|
NM_000245.4(MET):c.1027T>C (p.Phe343Leu)
|
rs774022115
|
0.00002
|
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
|
NM_000245.4(MET):c.1343G>A (p.Gly448Glu)
|
rs750256779
|
0.00002
|
|
NM_000245.4(MET):c.1382G>A (p.Arg461His)
|
rs544274181
|
0.00002
|
|
NM_000245.4(MET):c.13G>A (p.Ala5Thr)
|
rs765444467
|
0.00002
|
|
NM_000245.4(MET):c.1532C>T (p.Thr511Met)
|
rs371124109
|
0.00002
|
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
|
NM_000245.4(MET):c.1749A>G (p.Ile583Met)
|
rs776805376
|
0.00002
|
|
NM_000245.4(MET):c.1766G>T (p.Gly589Val)
|
rs943753621
|
0.00002
|
|
NM_000245.4(MET):c.1906A>G (p.Met636Val)
|
rs761183186
|
0.00002
|
|
NM_000245.4(MET):c.2215C>T (p.Arg739Cys)
|
rs45587940
|
0.00002
|
|
NM_000245.4(MET):c.2326G>C (p.Val776Leu)
|
rs771976817
|
0.00002
|
|
NM_000245.4(MET):c.232C>T (p.Leu78Phe)
|
rs766815155
|
0.00002
|
|
NM_000245.4(MET):c.2344G>A (p.Ala782Thr)
|
rs1262601648
|
0.00002
|
|
NM_000245.4(MET):c.2377C>T (p.Arg793Cys)
|
rs45440991
|
0.00002
|
|
NM_000245.4(MET):c.2437C>A (p.Leu813Ile)
|
rs745345346
|
0.00002
|
|
NM_000245.4(MET):c.2455G>A (p.Ala819Thr)
|
rs786203672
|
0.00002
|
|
NM_000245.4(MET):c.2585G>C (p.Gly862Ala)
|
rs1394626435
|
0.00002
|
|
NM_000245.4(MET):c.2702T>C (p.Leu901Pro)
|
rs755194593
|
0.00002
|
|
NM_000245.4(MET):c.2723A>G (p.Asn908Ser)
|
rs1478309975
|
0.00002
|
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
|
NM_000245.4(MET):c.2787G>C (p.Gln929His)
|
rs908653562
|
0.00002
|
|
NM_000245.4(MET):c.3034T>C (p.Phe1012Leu)
|
rs376243090
|
0.00002
|
|
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly)
|
rs780431412
|
0.00002
|
|
NM_000245.4(MET):c.3355G>A (p.Gly1119Arg)
|
rs1191752014
|
0.00002
|
|
NM_000245.4(MET):c.3451G>A (p.Gly1151Arg)
|
rs534974144
|
0.00002
|
|
NM_000245.4(MET):c.3880G>A (p.Val1294Ile)
|
rs1263785859
|
0.00002
|
|
NM_000245.4(MET):c.4011A>G (p.Ile1337Met)
|
rs376418811
|
0.00002
|
|
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp)
|
rs374383028
|
0.00002
|
|
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr)
|
rs761522694
|
0.00002
|
|
NM_000245.4(MET):c.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
|
NM_000245.4(MET):c.4127A>C (p.Asp1376Ala)
|
rs760339018
|
0.00002
|
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
|
NM_000245.4(MET):c.535G>A (p.Ala179Thr)
|
rs753697730
|
0.00002
|
|
NM_000245.4(MET):c.623A>G (p.Asp208Gly)
|
rs587782086
|
0.00002
|
|
NM_000245.4(MET):c.781T>C (p.Phe261Leu)
|
rs765061513
|
0.00002
|
|
NM_000245.4(MET):c.852A>G (p.Ile284Met)
|
rs759227622
|
0.00002
|
|
NM_000249.4(MLH1):c.1039-10T>A
|
rs1353365805
|
0.00002
|
|
NM_000249.4(MLH1):c.1039A>C (p.Thr347Pro)
|
rs1191787581
|
0.00002
|
|
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)
|
rs377484262
|
0.00002
|
|
NM_000249.4(MLH1):c.145G>A (p.Val49Met)
|
rs760185532
|
0.00002
|
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
|
NM_000249.4(MLH1):c.1577A>G (p.His526Arg)
|
rs1304802474
|
0.00002
|
|
NM_000249.4(MLH1):c.1642T>C (p.Tyr548His)
|
rs780317287
|
0.00002
|
|
NM_000249.4(MLH1):c.1732-3T>C
|
rs1207710123
|
0.00002
|
|
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met)
|
rs774878438
|
0.00002
|
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
|
NM_000249.4(MLH1):c.482C>T (p.Thr161Met)
|
rs763992299
|
0.00002
|
|
NM_000249.4(MLH1):c.530T>C (p.Leu177Ser)
|
rs758040210
|
0.00002
|
|
NM_000249.4(MLH1):c.545+4C>T
|
rs755275241
|
0.00002
|
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
|
NM_000249.4(MLH1):c.668C>T (p.Ala223Val)
|
rs756045117
|
0.00002
|
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
|
NM_000249.4(MLH1):c.857A>G (p.Lys286Arg)
|
rs775368585
|
0.00002
|
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00002
|
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
|
NM_000251.3(MSH2):c.1014A>C (p.Gly338=)
|
rs774083607
|
0.00002
|
|
NM_000251.3(MSH2):c.1032G>C (p.Gln344His)
|
rs375799148
|
0.00002
|
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
|
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)
|
rs587782759
|
0.00002
|
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
|
NM_000251.3(MSH2):c.1510+11G>C
|
rs370675562
|
0.00002
|
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
|
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp)
|
rs376044376
|
0.00002
|
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00002
|
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
|
NM_000251.3(MSH2):c.2277A>G (p.Gly759=)
|
rs1057520316
|
0.00002
|
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
|
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)
|
rs730881769
|
0.00002
|
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
|
NM_000251.3(MSH2):c.2393A>C (p.Asn798Thr)
|
rs786204073
|
0.00002
|
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
|
NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe)
|
rs774732579
|
0.00002
|
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
|
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)
|
rs730881767
|
0.00002
|
|
NM_000251.3(MSH2):c.503C>T (p.Ser168Phe)
|
rs1244537662
|
0.00002
|
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00002
|
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
|
NM_000251.3(MSH2):c.646A>G (p.Ile216Val)
|
rs63749936
|
0.00002
|
|
NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)
|
rs749442037
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000251.3(MSH2):c.808C>G (p.Leu270Val)
|
rs758403441
|
0.00002
|
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00002
|
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
|
NM_000264.5(PTCH1):c.68C>T (p.Ala23Val)
|
rs761204245
|
0.00002
|
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
|
NM_000321.3(RB1):c.-1C>T
|
rs754354560
|
0.00002
|
|
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys)
|
rs976503237
|
0.00002
|
|
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)
|
rs974956317
|
0.00002
|
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
|
NM_000321.3(RB1):c.2461A>G (p.Thr821Ala)
|
rs761015353
|
0.00002
|
|
NM_000321.3(RB1):c.2489+3G>T
|
rs1057505320
|
0.00002
|
|
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)
|
rs761068783
|
0.00002
|
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
|
NM_000321.3(RB1):c.2778A>C (p.Glu926Asp)
|
rs1433767914
|
0.00002
|
|
NM_000321.3(RB1):c.316G>T (p.Ala106Ser)
|
rs1210328667
|
0.00002
|
|
NM_000321.3(RB1):c.354T>A (p.Thr118=)
|
rs951251256
|
0.00002
|
|
NM_000321.3(RB1):c.608-7T>G
|
rs746360576
|
0.00002
|
|
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00002
|
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
|
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)
|
rs772362181
|
0.00002
|
|
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)
|
rs193921082
|
0.00002
|
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
|
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)
|
rs587781596
|
0.00002
|
|
NM_000465.4(BARD1):c.116C>T (p.Ala39Val)
|
rs779885670
|
0.00002
|
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
|
NM_000465.4(BARD1):c.1228A>T (p.Ser410Cys)
|
rs1064795260
|
0.00002
|
|
NM_000465.4(BARD1):c.1439T>C (p.Leu480Ser)
|
rs149839922
|
0.00002
|
|
NM_000465.4(BARD1):c.1553C>T (p.Ala518Val)
|
rs758139986
|
0.00002
|
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
|
NM_000465.4(BARD1):c.1801G>A (p.Asp601Asn)
|
rs753752419
|
0.00002
|
|
NM_000465.4(BARD1):c.1838C>A (p.Ala613Glu)
|
rs146629794
|
0.00002
|
|
NM_000465.4(BARD1):c.1988A>G (p.Asn663Ser)
|
rs187590361
|
0.00002
|
|
NM_000465.4(BARD1):c.2001+6T>C
|
rs775009517
|
0.00002
|
|
NM_000465.4(BARD1):c.2051A>G (p.Lys684Arg)
|
rs780161956
|
0.00002
|
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00002
|
|
NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)
|
rs730881425
|
0.00002
|
|
NM_000465.4(BARD1):c.245G>T (p.Gly82Val)
|
rs886055600
|
0.00002
|
|
NM_000465.4(BARD1):c.310A>G (p.Met104Val)
|
rs1401565860
|
0.00002
|
|
NM_000465.4(BARD1):c.31_45dup (p.Gln11_Arg15dup)
|
rs876659262
|
0.00002
|
|
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)
|
rs1220764138
|
0.00002
|
|
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)
|
rs786203226
|
0.00002
|
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
|
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)
|
rs587780036
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000465.4(BARD1):c.82C>A (p.Pro28Thr)
|
rs770702450
|
0.00002
|
|
NM_000465.4(BARD1):c.977A>G (p.Asn326Ser)
|
rs779960429
|
0.00002
|
|
NM_000465.4(BARD1):c.994A>C (p.Ile332Leu)
|
rs543606863
|
0.00002
|
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
|
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser)
|
rs777814445
|
0.00002
|
|
NM_000535.7(PMS2):c.1111A>G (p.Asn371Asp)
|
rs1217473969
|
0.00002
|
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00002
|
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
|
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala)
|
rs762894051
|
0.00002
|
|
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp)
|
rs1402531091
|
0.00002
|
|
NM_000535.7(PMS2):c.1357A>G (p.Met453Val)
|
rs587780722
|
0.00002
|
|
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)
|
rs779306532
|
0.00002
|
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
|
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)
|
rs587782500
|
0.00002
|
|
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys)
|
rs375905814
|
0.00002
|
|
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
|
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala)
|
rs1365849986
|
0.00002
|
|
NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu)
|
rs754339271
|
0.00002
|
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu)
|
rs1060503140
|
0.00002
|
|
NM_000535.7(PMS2):c.2453T>C (p.Ile818Thr)
|
rs786202876
|
0.00002
|
|
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr)
|
rs777470381
|
0.00002
|
|
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)
|
rs574371474
|
0.00002
|
|
NM_000535.7(PMS2):c.290A>G (p.Asp97Gly)
|
rs1175866554
|
0.00002
|
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
|
NM_000535.7(PMS2):c.592A>G (p.Ile198Val)
|
rs774629715
|
0.00002
|
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
|
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp)
|
rs762387250
|
0.00002
|
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
|
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu)
|
rs757409701
|
0.00002
|
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
|
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys)
|
rs182085259
|
0.00002
|
|
NM_000535.7(PMS2):c.988+10A>G
|
rs372554253
|
0.00002
|
|
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
|
rs761913816
|
0.00002
|
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)
|
rs1236604706
|
0.00002
|
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
|
NM_000845.3(GRM8):c.2554C>T (p.Arg852Cys)
|
rs139289550
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys)
|
rs193921002
|
0.00002
|
|
NM_001033578.3(SGK3):c.782A>G (p.His261Arg)
|
rs193920898
|
0.00002
|
|
NM_001039372.4(HEPACAM2):c.80-41G>A
|
rs193921119
|
0.00002
|
|
NM_001040108.2(MLH3):c.*1312G>A
|
rs559234350
|
0.00002
|
|
NM_001040108.2(MLH3):c.1004C>T (p.Thr335Ile)
|
rs762823997
|
0.00002
|
|
NM_001040108.2(MLH3):c.1109G>C (p.Gly370Ala)
|
rs575329147
|
0.00002
|
|
NM_001040108.2(MLH3):c.1142G>A (p.Arg381His)
|
rs751375245
|
0.00002
|
|
NM_001040108.2(MLH3):c.124G>A (p.Ala42Thr)
|
rs748676497
|
0.00002
|
|
NM_001040108.2(MLH3):c.1739A>G (p.Glu580Gly)
|
rs768009140
|
0.00002
|
|
NM_001040108.2(MLH3):c.1835T>C (p.Val612Ala)
|
rs767938226
|
0.00002
|
|
NM_001040108.2(MLH3):c.1943A>G (p.His648Arg)
|
rs746239378
|
0.00002
|
|
NM_001040108.2(MLH3):c.2079G>A (p.Met693Ile)
|
rs779177358
|
0.00002
|
|
NM_001040108.2(MLH3):c.2330G>A (p.Gly777Glu)
|
rs1027700572
|
0.00002
|
|
NM_001040108.2(MLH3):c.2568A>C (p.Leu856Phe)
|
rs191623874
|
0.00002
|
|
NM_001040108.2(MLH3):c.278G>A (p.Arg93Gln)
|
rs781779034
|
0.00002
|
|
NM_001040108.2(MLH3):c.2819C>T (p.Ser940Phe)
|
rs746725349
|
0.00002
|
|
NM_001040108.2(MLH3):c.2932A>G (p.Lys978Glu)
|
rs201276317
|
0.00002
|
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
|
NM_001040108.2(MLH3):c.3160A>G (p.Arg1054Gly)
|
rs890485767
|
0.00002
|
|
NM_001040108.2(MLH3):c.3241G>C (p.Asp1081His)
|
rs778369841
|
0.00002
|
|
NM_001040108.2(MLH3):c.3313G>A (p.Asp1105Asn)
|
rs138589933
|
0.00002
|
|
NM_001040108.2(MLH3):c.338A>G (p.Lys113Arg)
|
rs755961343
|
0.00002
|
|
NM_001040108.2(MLH3):c.3568C>A (p.Gln1190Lys)
|
rs779651509
|
0.00002
|
|
NM_001040108.2(MLH3):c.3724G>A (p.Glu1242Lys)
|
rs116061019
|
0.00002
|
|
NM_001040108.2(MLH3):c.3887A>G (p.Asp1296Gly)
|
rs373332183
|
0.00002
|
|
NM_001040108.2(MLH3):c.3941A>G (p.Asn1314Ser)
|
rs200444835
|
0.00002
|
|
NM_001040108.2(MLH3):c.4135C>T (p.Arg1379Cys)
|
rs376224686
|
0.00002
|
|
NM_001040108.2(MLH3):c.4136G>A (p.Arg1379His)
|
rs199974481
|
0.00002
|
|
NM_001040108.2(MLH3):c.4234G>C (p.Glu1412Gln)
|
rs376301349
|
0.00002
|
|
NM_001040108.2(MLH3):c.4289G>A (p.Arg1430His)
|
rs760305520
|
0.00002
|
|
NM_001040108.2(MLH3):c.628C>T (p.Arg210Ter)
|
rs770668994
|
0.00002
|
|
NM_001040108.2(MLH3):c.70C>G (p.Gln24Glu)
|
rs28937870
|
0.00002
|
|
NM_001040108.2(MLH3):c.808T>G (p.Phe270Val)
|
rs931639997
|
0.00002
|
|
NM_001040108.2(MLH3):c.962T>C (p.Met321Thr)
|
rs1004768761
|
0.00002
|
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
|
NM_001042492.3(NF1):c.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)
|
rs373803765
|
0.00002
|
|
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)
|
rs587782837
|
0.00002
|
|
NM_001166108.2(PALLD):c.*153A>G
|
rs535118290
|
0.00002
|
|
NM_001166108.2(PALLD):c.*400T>C
|
rs748402946
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12535A>C
|
rs878854266
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12552G>C
|
rs557697540
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12639C>G
|
rs1313429903
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12724C>T
|
rs1311193979
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12870T>C
|
rs1474793366
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12918A>G
|
rs888513189
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-12937C>T
|
rs863224705
|
0.00002
|
|
NM_001166108.2(PALLD):c.1965-13000G>T
|
rs370602081
|
0.00002
|
|
NM_001166108.2(PALLD):c.2066G>A (p.Arg689His)
|
rs758090588
|
0.00002
|
|
NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr)
|
rs757164572
|
0.00002
|
|
NM_001166108.2(PALLD):c.2294T>C (p.Ile765Thr)
|
rs749391847
|
0.00002
|
|
NM_001166108.2(PALLD):c.2303G>A (p.Arg768Lys)
|
rs1385898569
|
0.00002
|
|
NM_001166108.2(PALLD):c.2312G>A (p.Arg771Lys)
|
rs201707558
|
0.00002
|
|
NM_001166108.2(PALLD):c.2482T>C (p.Phe828Leu)
|
rs1160463247
|
0.00002
|
|
NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg)
|
rs761530979
|
0.00002
|
|
NM_001166108.2(PALLD):c.2797G>A (p.Ala933Thr)
|
rs755556663
|
0.00002
|
|
NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu)
|
rs756934356
|
0.00002
|
|
NM_001166108.2(PALLD):c.2815G>C (p.Val939Leu)
|
rs778471055
|
0.00002
|
|
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala)
|
rs750112132
|
0.00002
|
|
NM_001166108.2(PALLD):c.2935C>T (p.Arg979Cys)
|
rs367575623
|
0.00002
|
|
NM_001166108.2(PALLD):c.2999C>T (p.Thr1000Ile)
|
rs201412478
|
0.00002
|
|
NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr)
|
rs774078101
|
0.00002
|
|
NM_001166108.2(PALLD):c.3133C>T (p.Arg1045Trp)
|
rs753881003
|
0.00002
|
|
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=)
|
rs757791701
|
0.00002
|
|
NM_001166108.2(PALLD):c.860G>A (p.Arg287Gln)
|
rs141283998
|
0.00002
|
|
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)
|
rs28989181
|
0.00002
|
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
|
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
|
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro)
|
rs1408720761
|
0.00002
|
|
NM_002253.4(KDR):c.3405-4C>T
|
rs370501217
|
0.00002
|
|
NM_002332.3(LRP1):c.2309G>A (p.Arg770Gln)
|
rs769851229
|
0.00002
|
|
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser)
|
rs587780766
|
0.00002
|
|
NM_002354.3(EPCAM):c.7C>T (p.Pro3Ser)
|
rs587780772
|
0.00002
|
|
NM_002354.3(EPCAM):c.815T>C (p.Ile272Thr)
|
rs377276151
|
0.00002
|
|
NM_002354.3(EPCAM):c.833C>T (p.Ala278Val)
|
rs778825812
|
0.00002
|
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
|
NM_002439.5(MSH3):c.1037C>G (p.Pro346Arg)
|
rs773569755
|
0.00002
|
|
NM_002439.5(MSH3):c.1289C>T (p.Ser430Leu)
|
rs773030280
|
0.00002
|
|
NM_002439.5(MSH3):c.1320C>G (p.Ile440Met)
|
rs61749609
|
0.00002
|
|
NM_002439.5(MSH3):c.1846C>T (p.Arg616Cys)
|
rs372874549
|
0.00002
|
|
NM_002439.5(MSH3):c.1964T>C (p.Ile655Thr)
|
rs1341844785
|
0.00002
|
|
NM_002439.5(MSH3):c.2135T>C (p.Ile712Thr)
|
rs369015749
|
0.00002
|
|
NM_002439.5(MSH3):c.2754T>G (p.Ile918Met)
|
rs770164999
|
0.00002
|
|
NM_002439.5(MSH3):c.2972A>G (p.Tyr991Cys)
|
rs766742870
|
0.00002
|
|
NM_002439.5(MSH3):c.2987A>G (p.Tyr996Cys)
|
rs150760023
|
0.00002
|
|
NM_002439.5(MSH3):c.298A>G (p.Lys100Glu)
|
rs776286022
|
0.00002
|
|
NM_002439.5(MSH3):c.3035C>T (p.Pro1012Leu)
|
rs371367632
|
0.00002
|
|
NM_002439.5(MSH3):c.3346G>T (p.Ala1116Ser)
|
rs200343553
|
0.00002
|
|
NM_002439.5(MSH3):c.953T>C (p.Ile318Thr)
|
rs149662421
|
0.00002
|
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
|
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp)
|
rs760222071
|
0.00002
|
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
|
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln)
|
rs773665739
|
0.00002
|
|
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser)
|
rs751088347
|
0.00002
|
|
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys)
|
rs779208942
|
0.00002
|
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
|
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)
|
rs151198586
|
0.00002
|
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
|
NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
|
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)
|
rs193920818
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1119-3C>T
|
rs747149353
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg)
|
rs765139835
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn)
|
rs772752194
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val)
|
rs773252889
|
0.00002
|
|
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met)
|
rs766237791
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3215+3G>A
|
rs751050884
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3799G>A (p.Gly1267Ser)
|
rs764152134
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn)
|
rs1402031100
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4370A>G (p.Asn1457Ser)
|
rs1434396338
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met)
|
rs370484739
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4424+6C>T
|
rs778283753
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn)
|
rs878854229
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)
|
rs148115492
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4763C>T (p.Ser1588Phe)
|
rs373858447
|
0.00002
|
|
NM_003072.5(SMARCA4):c.508A>T (p.Thr170Ser)
|
rs773273784
|
0.00002
|
|
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)
|
rs778071122
|
0.00002
|
|
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr)
|
rs1417452362
|
0.00002
|
|
NM_003072.5(SMARCA4):c.679G>T (p.Ala227Ser)
|
rs769096295
|
0.00002
|
|
NM_003072.5(SMARCA4):c.790G>C (p.Gly264Arg)
|
rs746036083
|
0.00002
|
|
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)
|
rs768522438
|
0.00002
|
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
|
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His)
|
rs766422429
|
0.00002
|
|
NM_003072.5(SMARCA4):c.940G>A (p.Ala314Thr)
|
rs764188556
|
0.00002
|
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)
|
rs1387467529
|
0.00002
|
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
|
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)
|
rs751957685
|
0.00002
|
|
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)
|
rs757205202
|
0.00002
|
|
NM_003981.4(PRC1):c.971-466T>C
|
rs190852637
|
0.00002
|
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
|
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)
|
rs1259370853
|
0.00002
|
|
NM_004360.5(CDH1):c.*1435A>T
|
rs886052245
|
0.00002
|
|
NM_004360.5(CDH1):c.*582C>A
|
rs920956371
|
0.00002
|
|
NM_004360.5(CDH1):c.-29C>G
|
rs1057521843
|
0.00002
|
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00002
|
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
|
NM_004360.5(CDH1):c.1181C>T (p.Thr394Ile)
|
rs1332444039
|
0.00002
|
|
NM_004360.5(CDH1):c.1248G>C (p.Leu416Phe)
|
rs772622537
|
0.00002
|
|
NM_004360.5(CDH1):c.1261G>A (p.Gly421Arg)
|
rs747256664
|
0.00002
|
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
|
NM_004360.5(CDH1):c.1293C>G (p.Asn431Lys)
|
rs767350265
|
0.00002
|
|
NM_004360.5(CDH1):c.1300G>C (p.Gly434Arg)
|
rs587781783
|
0.00002
|
|
NM_004360.5(CDH1):c.1342C>G (p.Gln448Glu)
|
rs1421067964
|
0.00002
|
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
|
NM_004360.5(CDH1):c.1484T>C (p.Val495Ala)
|
rs786202482
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.1555C>A (p.Gln519Lys)
|
rs773763544
|
0.00002
|
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
|
NM_004360.5(CDH1):c.1942G>C (p.Glu648Gln)
|
rs971882211
|
0.00002
|
|
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe)
|
rs1238607560
|
0.00002
|
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00002
|
|
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr)
|
rs878854681
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
|
NM_004360.5(CDH1):c.2558C>T (p.Ser853Leu)
|
rs569928380
|
0.00002
|
|
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)
|
rs142927667
|
0.00002
|
|
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)
|
rs778019174
|
0.00002
|
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
|
NM_004360.5(CDH1):c.2614C>A (p.Leu872Met)
|
rs749203461
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.276T>G (p.His92Gln)
|
rs770967343
|
0.00002
|
|
NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)
|
rs587782023
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
|
NM_004360.5(CDH1):c.388-14T>G
|
rs769151434
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.406C>A (p.Gln136Lys)
|
rs753886948
|
0.00002
|
|
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)
|
rs786201212
|
0.00002
|
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
|
NM_004360.5(CDH1):c.833-34T>C
|
rs574599168
|
0.00002
|
|
NM_004360.5(CDH1):c.845T>C (p.Met282Thr)
|
rs730881652
|
0.00002
|
|
NM_004360.5(CDH1):c.866C>T (p.Ala289Val)
|
rs780399325
|
0.00002
|
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
|
NM_004364.5(CEBPA):c.*5C>T
|
rs375735989
|
0.00002
|
|
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
|
rs996435066
|
0.00002
|
|
NM_004364.5(CEBPA):c.252C>G (p.His84Gln)
|
rs878854700
|
0.00002
|
|
NM_004364.5(CEBPA):c.261G>T (p.Gln87His)
|
rs868242502
|
0.00002
|
|
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu)
|
rs1033194020
|
0.00002
|
|
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg)
|
rs1457318927
|
0.00002
|
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
|
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu)
|
rs1269133775
|
0.00002
|
|
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)
|
rs757475450
|
0.00002
|
|
NM_004484.4(GPC3):c.1495G>A (p.Gly499Ser)
|
rs995058278
|
0.00002
|
|
NM_004484.4(GPC3):c.1546G>A (p.Val516Met)
|
rs1803692
|
0.00002
|
|
NM_004484.4(GPC3):c.1639A>G (p.Asn547Asp)
|
rs773437908
|
0.00002
|
|
NM_004484.4(GPC3):c.22G>A (p.Ala8Thr)
|
rs772076246
|
0.00002
|
|
NM_004484.4(GPC3):c.273G>T (p.Gln91His)
|
rs1017256114
|
0.00002
|
|
NM_004484.4(GPC3):c.318G>C (p.Gln106His)
|
rs750139856
|
0.00002
|
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
|
NM_004484.4(GPC3):c.946A>G (p.Met316Val)
|
rs764148728
|
0.00002
|
|
NM_004484.4(GPC3):c.958C>G (p.Leu320Val)
|
rs372222280
|
0.00002
|
|
NM_004655.4(AXIN2):c.1384C>T (p.Pro462Ser)
|
rs1060502156
|
0.00002
|
|
NM_004655.4(AXIN2):c.1445C>T (p.Pro482Leu)
|
rs758495825
|
0.00002
|
|
NM_004655.4(AXIN2):c.1747G>A (p.Gly583Arg)
|
rs748860876
|
0.00002
|
|
NM_004655.4(AXIN2):c.2011C>T (p.Arg671Cys)
|
rs754506970
|
0.00002
|
|
NM_004655.4(AXIN2):c.356A>G (p.Gln119Arg)
|
rs777282977
|
0.00002
|
|
NM_004655.4(AXIN2):c.428G>A (p.Ser143Asn)
|
rs761849564
|
0.00002
|
|
NM_004655.4(AXIN2):c.527C>T (p.Thr176Ile)
|
rs878854731
|
0.00002
|
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
|
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg)
|
rs397517102
|
0.00002
|
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
|
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
|
rs971458513
|
0.00002
|
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
|
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)
|
rs587778513
|
0.00002
|
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
|
NM_005373.3(MPL):c.292C>G (p.Gln98Glu)
|
rs752682807
|
0.00002
|
|
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)
|
rs528834914
|
0.00002
|
|
NM_006206.6(PDGFRA):c.516C>T (p.Tyr172=)
|
rs1046079554
|
0.00002
|
|
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)
|
rs373000452
|
0.00002
|
|
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys)
|
rs1377657524
|
0.00002
|
|
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala)
|
rs779102091
|
0.00002
|
|
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu)
|
rs772686048
|
0.00002
|
|
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)
|
rs771980261
|
0.00002
|
|
NM_006521.6(TFE3):c.1694G>A (p.Arg565His)
|
rs782782345
|
0.00002
|
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His)
|
rs769933461
|
0.00002
|
|
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala)
|
rs749158713
|
0.00002
|
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
|
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp)
|
rs780920036
|
0.00002
|
|
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu)
|
rs779269031
|
0.00002
|
|
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe)
|
rs537051622
|
0.00002
|
|
NM_007194.4(CHEK2):c.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu)
|
rs144850845
|
0.00002
|
|
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
|
NM_007194.4(CHEK2):c.60G>T (p.Gln20His)
|
rs375507194
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_012295.4(CABIN1):c.3907G>A (p.Glu1303Lys)
|
rs193920999
|
0.00002
|
|
NM_014289.4(CAPN6):c.1757G>A (p.Arg586Gln)
|
rs193921059
|
0.00002
|
|
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly)
|
rs769053835
|
0.00002
|
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
|
NM_017763.6(RNF43):c.1720G>A (p.Gly574Arg)
|
rs112997544
|
0.00002
|
|
NM_017763.6(RNF43):c.185A>G (p.Asn62Ser)
|
rs1206047972
|
0.00002
|
|
NM_017763.6(RNF43):c.2279C>T (p.Pro760Leu)
|
rs760426158
|
0.00002
|
|
NM_017763.6(RNF43):c.2294T>C (p.Leu765Pro)
|
rs748813654
|
0.00002
|
|
NM_017763.6(RNF43):c.340C>T (p.Arg114Trp)
|
rs768842372
|
0.00002
|
|
NM_017763.6(RNF43):c.683G>A (p.Arg228Lys)
|
rs1208556981
|
0.00002
|
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
|
NM_020975.6(RET):c.1043G>A (p.Arg348Gln)
|
rs751518221
|
0.00002
|
|
NM_020975.6(RET):c.1084C>A (p.Leu362Ile)
|
rs773935854
|
0.00002
|
|
NM_020975.6(RET):c.1095G>A (p.Ser365=)
|
rs201992974
|
0.00002
|
|
NM_020975.6(RET):c.1188G>A (p.Ser396=)
|
rs758510657
|
0.00002
|
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
|
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)
|
rs138624658
|
0.00002
|
|
NM_020975.6(RET):c.1528G>A (p.Ala510Thr)
|
rs989627119
|
0.00002
|
|
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)
|
rs748852160
|
0.00002
|
|
NM_020975.6(RET):c.1759+10G>T
|
rs770586179
|
0.00002
|
|
NM_020975.6(RET):c.1914C>T (p.Ile638=)
|
rs375041479
|
0.00002
|
|
NM_020975.6(RET):c.1963T>C (p.Phe655Leu)
|
rs756978792
|
0.00002
|
|
NM_020975.6(RET):c.2038G>A (p.Ala680Thr)
|
rs184498773
|
0.00002
|
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
|
NM_020975.6(RET):c.2423A>C (p.Lys808Thr)
|
rs767945255
|
0.00002
|
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
|
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)
|
rs377767422
|
0.00002
|
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
|
NM_020975.6(RET):c.2833G>A (p.Val945Met)
|
rs587780811
|
0.00002
|
|
NM_020975.6(RET):c.2870C>T (p.Pro957Leu)
|
rs1259087541
|
0.00002
|
|
NM_020975.6(RET):c.2875C>T (p.Arg959Trp)
|
rs587778658
|
0.00002
|
|
NM_020975.6(RET):c.2939+6C>T
|
rs181245759
|
0.00002
|
|
NM_020975.6(RET):c.296G>A (p.Arg99Gln)
|
rs749500174
|
0.00002
|
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
|
NM_020975.6(RET):c.335G>A (p.Arg112His)
|
rs587780814
|
0.00002
|
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
|
NM_020975.6(RET):c.488G>A (p.Arg163Gln)
|
rs149403911
|
0.00002
|
|
NM_020975.6(RET):c.682G>C (p.Ala228Pro)
|
rs760813493
|
0.00002
|
|
NM_020975.6(RET):c.724G>A (p.Val242Met)
|
rs1264337497
|
0.00002
|
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00002
|
|
NM_024426.6(WT1):c.*110C>T
|
rs757474299
|
0.00002
|
|
NM_024426.6(WT1):c.*785C>A
|
rs886048214
|
0.00002
|
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
|
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln)
|
rs772590420
|
0.00002
|
|
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)
|
rs144788858
|
0.00002
|
|
NM_024426.6(WT1):c.146G>T (p.Gly49Val)
|
rs1475923286
|
0.00002
|
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
|
NM_024426.6(WT1):c.248C>T (p.Ala83Val)
|
rs1278102757
|
0.00002
|
|
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)
|
rs748045691
|
0.00002
|
|
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)
|
rs756501972
|
0.00002
|
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
|
NM_024426.6(WT1):c.736A>G (p.Asn246Asp)
|
rs1285224919
|
0.00002
|
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
|
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)
|
rs756078681
|
0.00002
|
|
NM_024426.6(WT1):c.830C>T (p.Thr277Ile)
|
rs138073760
|
0.00002
|
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
|
NM_024529.5(CDC73):c.*1789G>A
|
rs1323646186
|
0.00002
|
|
NM_024529.5(CDC73):c.*3342G>A
|
rs1174982740
|
0.00002
|
|
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)
|
rs971586985
|
0.00002
|
|
NM_024529.5(CDC73):c.1511G>A (p.Arg504His)
|
rs759222387
|
0.00002
|
|
NM_024529.5(CDC73):c.1564A>G (p.Met522Val)
|
rs751152405
|
0.00002
|
|
NM_024529.5(CDC73):c.450A>G (p.Lys150=)
|
rs779144943
|
0.00002
|
|
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
|
NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu)
|
rs771002573
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser)
|
rs763007754
|
0.00002
|
|
NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro)
|
rs876659597
|
0.00002
|
|
NM_024675.4(PALB2):c.1865T>C (p.Leu622Pro)
|
rs753012991
|
0.00002
|
|
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe)
|
rs730881899
|
0.00002
|
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile)
|
rs769634658
|
0.00002
|
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
|
NM_024675.4(PALB2):c.2564T>C (p.Leu855Pro)
|
rs774497779
|
0.00002
|
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
|
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)
|
rs139726856
|
0.00002
|
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
rs1555459513
|
0.00002
|
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
rs778573607
|
0.00002
|
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
|
NM_024675.4(PALB2):c.48+4C>T
|
rs876659843
|
0.00002
|
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
rs759810283
|
0.00002
|
|
NM_024675.4(PALB2):c.808A>G (p.Ser270Gly)
|
rs1347076714
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser)
|
rs780310294
|
0.00002
|
|
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg)
|
rs1603367704
|
0.00002
|
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
|
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe)
|
rs768393936
|
0.00002
|
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)
|
rs968860042
|
0.00002
|
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
|
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)
|
rs781140410
|
0.00002
|
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
|
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser)
|
rs373774920
|
0.00002
|
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
|
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys)
|
rs1309409845
|
0.00002
|
|
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys)
|
rs140047487
|
0.00002
|
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
|
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
|
rs557336321
|
0.00002
|
|
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)
|
rs766801011
|
0.00002
|
|
NM_144997.7(FLCN):c.249+2C>T
|
rs939223011
|
0.00002
|
|
NM_144997.7(FLCN):c.396+6C>T
|
rs747922795
|
0.00002
|
|
NM_173728.4(ARHGEF15):c.1897C>T (p.Arg633Trp)
|
rs193921031
|
0.00002
|
|
NM_177438.3(DICER1):c.1377-18T>A
|
rs1032236740
|
0.00002
|
|
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys)
|
rs527568726
|
0.00002
|
|
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)
|
rs1454569806
|
0.00002
|
|
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr)
|
rs370947079
|
0.00002
|
|
NM_178468.6(FAM83C):c.863G>A (p.Arg288His)
|
rs193920940
|
0.00002
|
|
NM_181808.4(POLN):c.2267G>A (p.Arg756Gln)
|
rs193920976
|
0.00002
|
|
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
|
NM_000038.6(APC):c.1435T>A (p.Leu479Met)
|
rs780577693
|
0.00001
|
|
NM_000038.6(APC):c.1803G>C (p.Glu601Asp)
|
rs1447250546
|
0.00001
|
|
NM_000038.6(APC):c.1958+5A>G
|
rs762899641
|
0.00001
|
|
NM_000038.6(APC):c.2105G>A (p.Gly702Glu)
|
rs876658289
|
0.00001
|
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
0.00001
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
|
NM_000038.6(APC):c.3515A>T (p.His1172Leu)
|
rs1024630299
|
0.00001
|
|
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)
|
rs1479009365
|
0.00001
|
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
|
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly)
|
rs587780598
|
0.00001
|
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
|
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe)
|
rs773178712
|
0.00001
|
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
|
NM_000038.6(APC):c.5615T>A (p.Val1872Asp)
|
rs748389037
|
0.00001
|
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
|
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)
|
rs767691072
|
0.00001
|
|
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu)
|
rs750111908
|
0.00001
|
|
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)
|
rs367676584
|
0.00001
|
|
NM_000038.6(APC):c.811A>G (p.Met271Val)
|
rs587781464
|
0.00001
|
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
|
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)
|
rs757874563
|
0.00001
|
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
|
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)
|
rs375049090
|
0.00001
|
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
|
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)
|
rs876659092
|
0.00001
|
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
|
NM_000051.4(ATM):c.1235+3A>G
|
rs1417190414
|
0.00001
|
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
|
NM_000051.4(ATM):c.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
|
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)
|
rs1479478300
|
0.00001
|
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
|
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)
|
rs1064795170
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
|
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)
|
rs770377706
|
0.00001
|
|
NM_000051.4(ATM):c.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
|
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)
|
rs766757573
|
0.00001
|
|
NM_000051.4(ATM):c.1907A>G (p.His636Arg)
|
rs1333990758
|
0.00001
|
|
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)
|
rs766259936
|
0.00001
|
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
|
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)
|
rs1060501691
|
0.00001
|
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
|
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser)
|
rs764538548
|
0.00001
|
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
0.00001
|
|
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)
|
rs952566855
|
0.00001
|
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
|
NM_000051.4(ATM):c.2698A>G (p.Met900Val)
|
rs138468963
|
0.00001
|
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
|
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)
|
rs745737218
|
0.00001
|
|
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys)
|
rs56087610
|
0.00001
|
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
|
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)
|
rs538105098
|
0.00001
|
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
|
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe)
|
rs587779831
|
0.00001
|
|
NM_000051.4(ATM):c.3077+5G>A
|
rs777003996
|
0.00001
|
|
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
|
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)
|
rs762810180
|
0.00001
|
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
|
NM_000051.4(ATM):c.331+7G>A
|
rs1184757004
|
0.00001
|
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
|
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
|
NM_000051.4(ATM):c.337C>T (p.Pro113Ser)
|
rs1060501678
|
0.00001
|
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
|
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)
|
rs372766122
|
0.00001
|
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
|
NM_000051.4(ATM):c.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
|
NM_000051.4(ATM):c.3746+12C>A
|
rs768841674
|
0.00001
|
|
NM_000051.4(ATM):c.3747-16A>G
|
rs1555093241
|
0.00001
|
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
|
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg)
|
rs876658669
|
0.00001
|
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
|
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn)
|
rs1060501660
|
0.00001
|
|
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)
|
rs771166271
|
0.00001
|
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
0.00001
|
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
0.00001
|
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
0.00001
|
|
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)
|
rs776581499
|
0.00001
|
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
|
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
0.00001
|
|
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr)
|
rs748898098
|
0.00001
|
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
|
NM_000051.4(ATM):c.475A>G (p.Ile159Val)
|
rs1565357315
|
0.00001
|
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
0.00001
|
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
0.00001
|
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
|
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg)
|
rs1565479465
|
0.00001
|
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
|
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)
|
rs1060501557
|
0.00001
|
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
0.00001
|
|
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)
|
rs786203404
|
0.00001
|
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
|
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr)
|
rs1000032847
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
|
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)
|
rs1060501586
|
0.00001
|
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
|
NM_000051.4(ATM):c.6296A>G (p.His2099Arg)
|
rs587782802
|
0.00001
|
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
|
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)
|
rs752069869
|
0.00001
|
|
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)
|
rs587780635
|
0.00001
|
|
NM_000051.4(ATM):c.6482G>A (p.Arg2161His)
|
rs756626462
|
0.00001
|
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
|
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)
|
rs374551964
|
0.00001
|
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
|
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
|
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val)
|
rs776429506
|
0.00001
|
|
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)
|
rs764859160
|
0.00001
|
|
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)
|
rs1449259481
|
0.00001
|
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
|
NM_000051.4(ATM):c.6975+5G>T
|
rs575354684
|
0.00001
|
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
|
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)
|
rs876659392
|
0.00001
|
|
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)
|
rs864622563
|
0.00001
|
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
|
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn)
|
rs751537332
|
0.00001
|
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
|
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val)
|
rs587779863
|
0.00001
|
|
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys)
|
rs755418571
|
0.00001
|
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
|
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile)
|
rs769722643
|
0.00001
|
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
|
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)
|
rs1449747119
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile)
|
rs1266101531
|
0.00001
|
|
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe)
|
rs146069748
|
0.00001
|
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
|
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)
|
rs766351395
|
0.00001
|
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
|
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly)
|
rs563137460
|
0.00001
|
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
|
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)
|
rs587781344
|
0.00001
|
|
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
0.00001
|
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
|
NM_000051.4(ATM):c.8269G>A (p.Val2757Met)
|
rs761625350
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
|
NM_000051.4(ATM):c.8461A>G (p.Met2821Val)
|
rs876660081
|
0.00001
|
|
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)
|
rs1555138472
|
0.00001
|
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
|
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)
|
rs1064795066
|
0.00001
|
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
0.00001
|
|
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)
|
rs730881329
|
0.00001
|
|
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile)
|
rs772621438
|
0.00001
|
|
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln)
|
rs1060501537
|
0.00001
|
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
|
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)
|
rs1044092081
|
0.00001
|
|
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)
|
rs763773991
|
0.00001
|
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
|
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val)
|
rs876660534
|
0.00001
|
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
|
NM_000051.4(ATM):c.958G>A (p.Val320Met)
|
rs1060501655
|
0.00001
|
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
|
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)
|
rs771011731
|
0.00001
|
|
NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)
|
rs876660857
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
rs276174818
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
rs398122745
|
0.00001
|
|
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)
|
rs587782062
|
0.00001
|
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
rs80358505
|
0.00001
|
|
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)
|
rs80358508
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)
|
rs149753706
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
|
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)
|
rs80358546
|
0.00001
|
|
NM_000059.4(BRCA2):c.301T>C (p.Phe101Leu)
|
rs2072290175
|
0.00001
|
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
|
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)
|
rs145605603
|
0.00001
|
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
rs773442698
|
0.00001
|
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
|
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)
|
rs397507324
|
0.00001
|
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
rs748591104
|
0.00001
|
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
rs397507336
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
|
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)
|
rs587782583
|
0.00001
|
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)
|
rs41293471
|
0.00001
|
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
|
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile)
|
rs80358924
|
0.00001
|
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
rs80358938
|
0.00001
|
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
|
NM_000059.4(BRCA2):c.712G>C (p.Glu238Gln)
|
rs56383036
|
0.00001
|
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
|
NM_000059.4(BRCA2):c.7488G>C (p.Lys2496Asn)
|
rs774994294
|
0.00001
|
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
|
NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)
|
rs966152147
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
|
NM_000059.4(BRCA2):c.7669G>A (p.Ala2557Thr)
|
rs876658624
|
0.00001
|
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
|
NM_000059.4(BRCA2):c.7771A>G (p.Asn2591Asp)
|
rs778060629
|
0.00001
|
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+6T>C
|
rs1222477192
|
0.00001
|
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
|
NM_000059.4(BRCA2):c.8171G>A (p.Gly2724Glu)
|
rs80359063
|
0.00001
|
|
NM_000059.4(BRCA2):c.8179G>T (p.Ala2727Ser)
|
rs730881582
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
|
NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)
|
rs786203867
|
0.00001
|
|
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly)
|
rs80359089
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.8531A>G (p.Glu2844Gly)
|
rs900871740
|
0.00001
|
|
NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)
|
rs876658592
|
0.00001
|
|
NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)
|
rs80359124
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
|
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn)
|
rs730881567
|
0.00001
|
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
|
NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)
|
rs55704151
|
0.00001
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
|
NM_000059.4(BRCA2):c.9539T>C (p.Leu3180Pro)
|
rs397507431
|
0.00001
|
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
rs80359231
|
0.00001
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
|
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)
|
rs756713165
|
0.00001
|
|
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser)
|
rs763811839
|
0.00001
|
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
|
NM_000136.3(FANCC):c.-12G>A
|
rs779454514
|
0.00001
|
|
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)
|
rs1554827151
|
0.00001
|
|
NM_000136.3(FANCC):c.327A>G (p.Lys109=)
|
rs1399574459
|
0.00001
|
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000141.5(FGFR2):c.*1369C>T
|
rs886046759
|
0.00001
|
|
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr)
|
rs769880096
|
0.00001
|
|
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)
|
rs748117555
|
0.00001
|
|
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)
|
rs962103382
|
0.00001
|
|
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)
|
rs774682374
|
0.00001
|
|
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu)
|
rs779326224
|
0.00001
|
|
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn)
|
rs370877537
|
0.00001
|
|
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)
|
rs770029887
|
0.00001
|
|
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)
|
rs772276122
|
0.00001
|
|
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)
|
rs533866031
|
0.00001
|
|
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)
|
rs369232922
|
0.00001
|
|
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)
|
rs369758941
|
0.00001
|
|
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp)
|
rs978856665
|
0.00001
|
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
|
NM_000179.3(MSH6):c.*11T>C
|
rs757708396
|
0.00001
|
|
NM_000179.3(MSH6):c.*1A>G
|
rs587781604
|
0.00001
|
|
NM_000179.3(MSH6):c.-11C>A
|
rs1225209597
|
0.00001
|
|
NM_000179.3(MSH6):c.1047A>C (p.Gln349His)
|
rs876659112
|
0.00001
|
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
|
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)
|
rs145994565
|
0.00001
|
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
|
NM_000179.3(MSH6):c.1117C>T (p.Leu373Phe)
|
rs1060502915
|
0.00001
|
|
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)
|
rs764150912
|
0.00001
|
|
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)
|
rs587779205
|
0.00001
|
|
NM_000179.3(MSH6):c.1146C>G (p.His382Gln)
|
rs1572721856
|
0.00001
|
|
NM_000179.3(MSH6):c.1163A>T (p.His388Leu)
|
rs786201185
|
0.00001
|
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
|
NM_000179.3(MSH6):c.1168G>T (p.Asp390Tyr)
|
rs147737737
|
0.00001
|
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
|
NM_000179.3(MSH6):c.1192G>A (p.Val398Met)
|
rs780350978
|
0.00001
|
|
NM_000179.3(MSH6):c.11A>G (p.Gln4Arg)
|
rs1572697725
|
0.00001
|
|
NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser)
|
rs768740986
|
0.00001
|
|
NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys)
|
rs730881790
|
0.00001
|
|
NM_000179.3(MSH6):c.1231A>T (p.Arg411Trp)
|
rs202219685
|
0.00001
|
|
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)
|
rs63749971
|
0.00001
|
|
NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr)
|
rs1207702287
|
0.00001
|
|
NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)
|
rs863224615
|
0.00001
|
|
NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)
|
rs587779210
|
0.00001
|
|
NM_000179.3(MSH6):c.133G>C (p.Gly45Arg)
|
rs978968846
|
0.00001
|
|
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)
|
rs863224616
|
0.00001
|
|
NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)
|
rs587782346
|
0.00001
|
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
|
NM_000179.3(MSH6):c.1433A>G (p.Tyr478Cys)
|
rs1343978618
|
0.00001
|
|
NM_000179.3(MSH6):c.143C>T (p.Ala48Val)
|
rs876658278
|
0.00001
|
|
NM_000179.3(MSH6):c.1445G>A (p.Arg482Gln)
|
rs773226008
|
0.00001
|
|
NM_000179.3(MSH6):c.1457C>T (p.Thr486Ile)
|
rs577713548
|
0.00001
|
|
NM_000179.3(MSH6):c.1487G>A (p.Cys496Tyr)
|
rs764593111
|
0.00001
|
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
|
NM_000179.3(MSH6):c.1529G>A (p.Arg510Lys)
|
rs864622572
|
0.00001
|
|
NM_000179.3(MSH6):c.1535A>G (p.Glu512Gly)
|
rs1060502930
|
0.00001
|
|
NM_000179.3(MSH6):c.1537A>G (p.Ile513Val)
|
rs746897461
|
0.00001
|
|
NM_000179.3(MSH6):c.153C>G (p.Ser51Arg)
|
rs762061869
|
0.00001
|
|
NM_000179.3(MSH6):c.1563A>G (p.Thr521=)
|
rs1553412952
|
0.00001
|
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
|
NM_000179.3(MSH6):c.1567A>C (p.Thr523Pro)
|
rs759857124
|
0.00001
|
|
NM_000179.3(MSH6):c.1585G>A (p.Gly529Ser)
|
rs1457286684
|
0.00001
|
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
|
NM_000179.3(MSH6):c.1601A>C (p.Asn534Thr)
|
rs1572723598
|
0.00001
|
|
NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)
|
rs587782352
|
0.00001
|
|
NM_000179.3(MSH6):c.1610A>C (p.Lys537Thr)
|
rs1390820576
|
0.00001
|
|
NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)
|
rs1064793403
|
0.00001
|
|
NM_000179.3(MSH6):c.1646C>A (p.Ser549Tyr)
|
rs200447622
|
0.00001
|
|
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)
|
rs200447622
|
0.00001
|
|
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)
|
rs587779917
|
0.00001
|
|
NM_000179.3(MSH6):c.1655A>G (p.His552Arg)
|
rs1064793423
|
0.00001
|
|
NM_000179.3(MSH6):c.1656T>A (p.His552Gln)
|
rs745937181
|
0.00001
|
|
NM_000179.3(MSH6):c.1673T>C (p.Val558Ala)
|
rs587782284
|
0.00001
|
|
NM_000179.3(MSH6):c.1678T>C (p.Phe560Leu)
|
rs863224617
|
0.00001
|
|
NM_000179.3(MSH6):c.1682T>C (p.Val561Ala)
|
rs1042131614
|
0.00001
|
|
NM_000179.3(MSH6):c.1708A>G (p.Ile570Val)
|
rs61748081
|
0.00001
|
|
NM_000179.3(MSH6):c.1720T>A (p.Ser574Thr)
|
rs769914244
|
0.00001
|
|
NM_000179.3(MSH6):c.1757T>C (p.Val586Ala)
|
rs730881792
|
0.00001
|
|
NM_000179.3(MSH6):c.175C>T (p.Pro59Ser)
|
rs761033647
|
0.00001
|
|
NM_000179.3(MSH6):c.1799A>G (p.Asn600Ser)
|
rs1446456295
|
0.00001
|
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
|
NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu)
|
rs587778529
|
0.00001
|
|
NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)
|
rs587779920
|
0.00001
|
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
|
NM_000179.3(MSH6):c.1902G>C (p.Leu634Phe)
|
rs1572724876
|
0.00001
|
|
NM_000179.3(MSH6):c.190G>A (p.Ala64Thr)
|
rs587779921
|
0.00001
|
|
NM_000179.3(MSH6):c.1957G>A (p.Val653Met)
|
rs768095444
|
0.00001
|
|
NM_000179.3(MSH6):c.1957G>C (p.Val653Leu)
|
rs768095444
|
0.00001
|
|
NM_000179.3(MSH6):c.1970A>C (p.Gln657Pro)
|
rs1459883720
|
0.00001
|
|
NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg)
|
rs1459883720
|
0.00001
|
|
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)
|
rs587778532
|
0.00001
|
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
|
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)
|
rs1361745058
|
0.00001
|
|
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)
|
rs555209664
|
0.00001
|
|
NM_000179.3(MSH6):c.2023G>A (p.Glu675Lys)
|
rs878853713
|
0.00001
|
|
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp)
|
rs587779223
|
0.00001
|
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
|
NM_000179.3(MSH6):c.2030G>C (p.Ser677Thr)
|
rs587779224
|
0.00001
|
|
NM_000179.3(MSH6):c.203A>G (p.Lys68Arg)
|
rs863224620
|
0.00001
|
|
NM_000179.3(MSH6):c.2045C>G (p.Ser682Cys)
|
rs587779225
|
0.00001
|
|
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)
|
rs1060502934
|
0.00001
|
|
NM_000179.3(MSH6):c.2071C>T (p.Leu691Phe)
|
rs765224443
|
0.00001
|
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
|
NM_000179.3(MSH6):c.2137G>A (p.Asp713Asn)
|
rs876660123
|
0.00001
|
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
|
NM_000179.3(MSH6):c.2159C>T (p.Thr720Ile)
|
rs185531778
|
0.00001
|
|
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met)
|
rs63750304
|
0.00001
|
|
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)
|
rs574358605
|
0.00001
|
|
NM_000179.3(MSH6):c.2180C>G (p.Thr727Ser)
|
rs767861096
|
0.00001
|
|
NM_000179.3(MSH6):c.2189A>G (p.Tyr730Cys)
|
rs587782900
|
0.00001
|
|
NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)
|
rs869312798
|
0.00001
|
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
|
NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)
|
rs545057945
|
0.00001
|
|
NM_000179.3(MSH6):c.2260A>T (p.Thr754Ser)
|
rs545057945
|
0.00001
|
|
NM_000179.3(MSH6):c.227T>C (p.Leu76Pro)
|
rs587780672
|
0.00001
|
|
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)
|
rs587779233
|
0.00001
|
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
|
NM_000179.3(MSH6):c.2317C>G (p.Leu773Val)
|
rs1064793871
|
0.00001
|
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
|
NM_000179.3(MSH6):c.2331G>T (p.Trp777Cys)
|
rs876660037
|
0.00001
|
|
NM_000179.3(MSH6):c.2339C>T (p.Ala780Val)
|
rs63749899
|
0.00001
|
|
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys)
|
rs864622425
|
0.00001
|
|
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)
|
rs773193199
|
0.00001
|
|
NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)
|
rs1558665293
|
0.00001
|
|
NM_000179.3(MSH6):c.2401G>A (p.Val801Met)
|
rs1265121267
|
0.00001
|
|
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)
|
rs1064793552
|
0.00001
|
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
|
NM_000179.3(MSH6):c.245C>T (p.Pro82Leu)
|
rs1190756871
|
0.00001
|
|
NM_000179.3(MSH6):c.2509C>T (p.His837Tyr)
|
rs777593472
|
0.00001
|
|
NM_000179.3(MSH6):c.2515G>C (p.Asp839His)
|
rs1553413868
|
0.00001
|
|
NM_000179.3(MSH6):c.2524G>C (p.Ala842Pro)
|
rs746143003
|
0.00001
|
|
NM_000179.3(MSH6):c.2527A>G (p.Ile843Val)
|
rs1060502922
|
0.00001
|
|
NM_000179.3(MSH6):c.2539G>A (p.Glu847Lys)
|
rs775625082
|
0.00001
|
|
NM_000179.3(MSH6):c.2546C>T (p.Thr849Ile)
|
rs1328434414
|
0.00001
|
|
NM_000179.3(MSH6):c.2549A>G (p.Tyr850Cys)
|
rs63750389
|
0.00001
|
|
NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)
|
rs370412074
|
0.00001
|
|
NM_000179.3(MSH6):c.2585T>A (p.Leu862Gln)
|
rs1553413932
|
0.00001
|
|
NM_000179.3(MSH6):c.2588A>G (p.Glu863Gly)
|
rs876658238
|
0.00001
|
|
NM_000179.3(MSH6):c.2599G>A (p.Val867Ile)
|
rs745954217
|
0.00001
|
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
|
NM_000179.3(MSH6):c.2603T>C (p.Met868Thr)
|
rs780280765
|
0.00001
|
|
NM_000179.3(MSH6):c.2605T>G (p.Cys869Gly)
|
rs768941857
|
0.00001
|
|
NM_000179.3(MSH6):c.2608A>G (p.Lys870Glu)
|
rs1310418564
|
0.00001
|
|
NM_000179.3(MSH6):c.2615T>C (p.Ile872Thr)
|
rs1064793342
|
0.00001
|
|
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)
|
rs730881797
|
0.00001
|
|
NM_000179.3(MSH6):c.2630A>G (p.Glu877Gly)
|
rs1060502873
|
0.00001
|
|
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)
|
rs1060502911
|
0.00001
|
|
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys)
|
rs1252374906
|
0.00001
|
|
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)
|
rs998186339
|
0.00001
|
|
NM_000179.3(MSH6):c.2648A>C (p.Lys883Thr)
|
rs764816440
|
0.00001
|
|
NM_000179.3(MSH6):c.2651C>G (p.Ser884Cys)
|
rs561217424
|
0.00001
|
|
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)
|
rs587782593
|
0.00001
|
|
NM_000179.3(MSH6):c.2659C>G (p.Leu887Val)
|
rs1423320900
|
0.00001
|
|
NM_000179.3(MSH6):c.2673C>G (p.Ile891Met)
|
rs146006741
|
0.00001
|
|
NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)
|
rs370754319
|
0.00001
|
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
|
NM_000179.3(MSH6):c.2695G>A (p.Glu899Lys)
|
rs748574765
|
0.00001
|
|
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)
|
rs63749889
|
0.00001
|
|
NM_000179.3(MSH6):c.2717C>G (p.Thr906Ser)
|
rs1436232875
|
0.00001
|
|
NM_000179.3(MSH6):c.2762C>T (p.Ala921Val)
|
rs1060502936
|
0.00001
|
|
NM_000179.3(MSH6):c.2770A>T (p.Thr924Ser)
|
rs758873844
|
0.00001
|
|
NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)
|
rs587781318
|
0.00001
|
|
NM_000179.3(MSH6):c.2781T>G (p.Ile927Met)
|
rs771575217
|
0.00001
|
|
NM_000179.3(MSH6):c.2808T>G (p.Asp936Glu)
|
rs771925410
|
0.00001
|
|
NM_000179.3(MSH6):c.2825C>T (p.Ala942Val)
|
rs760406178
|
0.00001
|
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
|
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)
|
rs878853723
|
0.00001
|
|
NM_000179.3(MSH6):c.2845C>G (p.Gln949Glu)
|
rs878853724
|
0.00001
|
|
NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)
|
rs587781743
|
0.00001
|
|
NM_000179.3(MSH6):c.2863C>G (p.Leu955Val)
|
rs1401779172
|
0.00001
|
|
NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)
|
rs751973865
|
0.00001
|
|
NM_000179.3(MSH6):c.2876G>A (p.Arg959His)
|
rs757653982
|
0.00001
|
|
NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)
|
rs778287080
|
0.00001
|
|
NM_000179.3(MSH6):c.2908T>C (p.Trp970Arg)
|
rs1410870321
|
0.00001
|
|
NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys)
|
rs765411990
|
0.00001
|
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
|
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)
|
rs780485157
|
0.00001
|
|
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)
|
rs587779927
|
0.00001
|
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
|
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)
|
rs61753795
|
0.00001
|
|
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu)
|
rs375966384
|
0.00001
|
|
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)
|
rs730881800
|
0.00001
|
|
NM_000179.3(MSH6):c.29T>G (p.Phe10Cys)
|
rs1668110702
|
0.00001
|
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
|
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp)
|
rs1060502943
|
0.00001
|
|
NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly)
|
rs63750287
|
0.00001
|
|
NM_000179.3(MSH6):c.3094T>G (p.Cys1032Gly)
|
rs1572730085
|
0.00001
|
|
NM_000179.3(MSH6):c.3107T>G (p.Leu1036Arg)
|
rs748211741
|
0.00001
|
|
NM_000179.3(MSH6):c.3112T>C (p.Tyr1038His)
|
rs1060502947
|
0.00001
|
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
|
NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)
|
rs587781568
|
0.00001
|
|
NM_000179.3(MSH6):c.316T>C (p.Trp106Arg)
|
rs1410755308
|
0.00001
|
|
NM_000179.3(MSH6):c.3172+14C>T
|
rs762990595
|
0.00001
|
|
NM_000179.3(MSH6):c.3172+5G>T
|
rs876659857
|
0.00001
|
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
|
NM_000179.3(MSH6):c.3215G>T (p.Gly1072Val)
|
rs781243845
|
0.00001
|
|
NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)
|
rs587779257
|
0.00001
|
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3254C>A (p.Thr1085Asn)
|
rs761724581
|
0.00001
|
|
NM_000179.3(MSH6):c.325C>G (p.Leu109Val)
|
rs1064793870
|
0.00001
|
|
NM_000179.3(MSH6):c.3305C>G (p.Thr1102Ser)
|
rs1553331510
|
0.00001
|
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
|
NM_000179.3(MSH6):c.3321T>G (p.Asp1107Glu)
|
rs1258021186
|
0.00001
|
|
NM_000179.3(MSH6):c.3329C>G (p.Pro1110Arg)
|
rs1270167314
|
0.00001
|
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
|
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met)
|
rs786202044
|
0.00001
|
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
|
NM_000179.3(MSH6):c.3340C>G (p.Leu1114Val)
|
rs1064793520
|
0.00001
|
|
NM_000179.3(MSH6):c.3350G>T (p.Cys1117Phe)
|
rs773245315
|
0.00001
|
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
|
NM_000179.3(MSH6):c.3370A>C (p.Asn1124His)
|
rs1443258363
|
0.00001
|
|
NM_000179.3(MSH6):c.3379G>A (p.Ala1127Thr)
|
rs1060502880
|
0.00001
|
|
NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)
|
rs587779261
|
0.00001
|
|
NM_000179.3(MSH6):c.3388G>C (p.Val1130Leu)
|
rs752164796
|
0.00001
|
|
NM_000179.3(MSH6):c.3394G>C (p.Val1132Leu)
|
rs781676597
|
0.00001
|
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
|
NM_000179.3(MSH6):c.3424A>G (p.Thr1142Ala)
|
rs1572736148
|
0.00001
|
|
NM_000179.3(MSH6):c.3438+17G>C
|
rs759737239
|
0.00001
|
|
NM_000179.3(MSH6):c.3438+2dup
|
rs1114167778
|
0.00001
|
|
NM_000179.3(MSH6):c.3439-15C>T
|
rs1305658142
|
0.00001
|
|
NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr)
|
rs770054790
|
0.00001
|
|
NM_000179.3(MSH6):c.3440C>T (p.Ala1147Val)
|
rs876659975
|
0.00001
|
|
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe)
|
rs876660151
|
0.00001
|
|
NM_000179.3(MSH6):c.3450A>T (p.Leu1150Phe)
|
rs762134820
|
0.00001
|
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
|
NM_000179.3(MSH6):c.3458T>C (p.Met1153Thr)
|
rs761160431
|
0.00001
|
|
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His)
|
rs766817979
|
0.00001
|
|
NM_000179.3(MSH6):c.3489A>T (p.Glu1163Asp)
|
rs531674673
|
0.00001
|
|
NM_000179.3(MSH6):c.3505C>G (p.Pro1169Ala)
|
rs904846776
|
0.00001
|
|
NM_000179.3(MSH6):c.3526A>G (p.Arg1176Gly)
|
rs786203968
|
0.00001
|
|
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)
|
rs748398941
|
0.00001
|
|
NM_000179.3(MSH6):c.3541G>A (p.Asp1181Asn)
|
rs762406364
|
0.00001
|
|
NM_000179.3(MSH6):c.3549A>G (p.Ile1183Met)
|
rs1453695821
|
0.00001
|
|
NM_000179.3(MSH6):c.3556+3G>T
|
rs1057521667
|
0.00001
|
|
NM_000179.3(MSH6):c.3556+6T>G
|
rs767210715
|
0.00001
|
|
NM_000179.3(MSH6):c.3556G>C (p.Gly1186Arg)
|
rs1060502909
|
0.00001
|
|
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)
|
rs150632241
|
0.00001
|
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
|
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala)
|
rs753778809
|
0.00001
|
|
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)
|
rs75095286
|
0.00001
|
|
NM_000179.3(MSH6):c.358A>G (p.Ile120Val)
|
rs146455343
|
0.00001
|
|
NM_000179.3(MSH6):c.3592G>A (p.Ala1198Thr)
|
rs1669962346
|
0.00001
|
|
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)
|
rs781627838
|
0.00001
|
|
NM_000179.3(MSH6):c.3601C>T (p.Leu1201Phe)
|
rs182024561
|
0.00001
|
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
|
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)
|
rs876660882
|
0.00001
|
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
|
NM_000179.3(MSH6):c.3634G>T (p.Val1212Leu)
|
rs864622748
|
0.00001
|
|
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)
|
rs587780677
|
0.00001
|
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
|
NM_000179.3(MSH6):c.3685A>C (p.Asn1229His)
|
rs774249402
|
0.00001
|
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
|
NM_000179.3(MSH6):c.3700G>C (p.Glu1234Gln)
|
rs35717727
|
0.00001
|
|
NM_000179.3(MSH6):c.371G>A (p.Gly124Glu)
|
rs1553410286
|
0.00001
|
|
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)
|
rs63750882
|
0.00001
|
|
NM_000179.3(MSH6):c.3744C>G (p.His1248Gln)
|
rs1670056970
|
0.00001
|
|
NM_000179.3(MSH6):c.3749A>G (p.His1250Arg)
|
rs749129928
|
0.00001
|
|
NM_000179.3(MSH6):c.3767A>C (p.Tyr1256Ser)
|
rs761643896
|
0.00001
|
|
NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val)
|
rs773171352
|
0.00001
|
|
NM_000179.3(MSH6):c.3796C>T (p.His1266Tyr)
|
rs972387746
|
0.00001
|
|
NM_000179.3(MSH6):c.379G>A (p.Val127Ile)
|
rs1553410307
|
0.00001
|
|
NM_000179.3(MSH6):c.3801+6T>C
|
rs749922503
|
0.00001
|
|
NM_000179.3(MSH6):c.3806G>C (p.Cys1269Ser)
|
rs876658276
|
0.00001
|
|
NM_000179.3(MSH6):c.3818A>G (p.Asn1273Ser)
|
rs201830316
|
0.00001
|
|
NM_000179.3(MSH6):c.3837C>G (p.Ser1279Arg)
|
rs876661245
|
0.00001
|
|
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)
|
rs876659115
|
0.00001
|
|
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)
|
rs144714869
|
0.00001
|
|
NM_000179.3(MSH6):c.3853T>C (p.Phe1285Leu)
|
rs1369714474
|
0.00001
|
|
NM_000179.3(MSH6):c.3854T>C (p.Phe1285Ser)
|
rs1553333453
|
0.00001
|
|
NM_000179.3(MSH6):c.3857T>C (p.Leu1286Pro)
|
rs754443325
|
0.00001
|
|
NM_000179.3(MSH6):c.3878C>G (p.Ala1293Gly)
|
rs764835191
|
0.00001
|
|
NM_000179.3(MSH6):c.3884C>G (p.Pro1295Arg)
|
rs758181932
|
0.00001
|
|
NM_000179.3(MSH6):c.3884C>T (p.Pro1295Leu)
|
rs758181932
|
0.00001
|
|
NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)
|
rs575714670
|
0.00001
|
|
NM_000179.3(MSH6):c.388C>T (p.His130Tyr)
|
rs1668697036
|
0.00001
|
|
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)
|
rs786202520
|
0.00001
|
|
NM_000179.3(MSH6):c.38A>G (p.Lys13Arg)
|
rs41294988
|
0.00001
|
|
NM_000179.3(MSH6):c.3901A>G (p.Asn1301Asp)
|
rs1184905732
|
0.00001
|
|
NM_000179.3(MSH6):c.3913C>T (p.Leu1305Phe)
|
rs1670120604
|
0.00001
|
|
NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)
|
rs1194990135
|
0.00001
|
|
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)
|
rs759092293
|
0.00001
|
|
NM_000179.3(MSH6):c.3966A>T (p.Glu1322Asp)
|
rs1064794745
|
0.00001
|
|
NM_000179.3(MSH6):c.396G>C (p.Gln132His)
|
rs864622216
|
0.00001
|
|
NM_000179.3(MSH6):c.3983A>G (p.Gln1328Arg)
|
rs587779940
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
|
NM_000179.3(MSH6):c.4016_4017dup (p.Ser1340fs)
|
rs876661127
|
0.00001
|
|
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)
|
rs730881809
|
0.00001
|
|
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)
|
rs1449733937
|
0.00001
|
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
|
NM_000179.3(MSH6):c.4061T>C (p.Leu1354Pro)
|
rs267608140
|
0.00001
|
|
NM_000179.3(MSH6):c.4064C>G (p.Thr1355Ser)
|
rs863224627
|
0.00001
|
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
|
NM_000179.3(MSH6):c.4070T>A (p.Ile1357Asn)
|
rs1209834047
|
0.00001
|
|
NM_000179.3(MSH6):c.4081T>C (p.Ter1361Gln)
|
rs765098678
|
0.00001
|
|
NM_000179.3(MSH6):c.40T>G (p.Ser14Ala)
|
rs876660417
|
0.00001
|
|
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)
|
rs1321666742
|
0.00001
|
|
NM_000179.3(MSH6):c.44C>T (p.Pro15Leu)
|
rs869312800
|
0.00001
|
|
NM_000179.3(MSH6):c.458-13C>G
|
rs1057522695
|
0.00001
|
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
|
NM_000179.3(MSH6):c.494T>G (p.Phe165Cys)
|
rs763841886
|
0.00001
|
|
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)
|
rs774162322
|
0.00001
|
|
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)
|
rs863224629
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.544G>A (p.Ala182Thr)
|
rs1441208044
|
0.00001
|
|
NM_000179.3(MSH6):c.556G>A (p.Asp186Asn)
|
rs1212607928
|
0.00001
|
|
NM_000179.3(MSH6):c.595C>G (p.Pro199Ala)
|
rs1475759670
|
0.00001
|
|
NM_000179.3(MSH6):c.5C>T (p.Ser2Leu)
|
rs752887988
|
0.00001
|
|
NM_000179.3(MSH6):c.624G>A (p.Met208Ile)
|
rs1060502878
|
0.00001
|
|
NM_000179.3(MSH6):c.628-3C>T
|
rs3136332
|
0.00001
|
|
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)
|
rs876659071
|
0.00001
|
|
NM_000179.3(MSH6):c.644T>G (p.Val215Gly)
|
rs587779946
|
0.00001
|
|
NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)
|
rs765195534
|
0.00001
|
|
NM_000179.3(MSH6):c.649G>T (p.Asp217Tyr)
|
rs950036621
|
0.00001
|
|
NM_000179.3(MSH6):c.659A>G (p.Glu220Gly)
|
rs764478569
|
0.00001
|
|
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)
|
rs374041375
|
0.00001
|
|
NM_000179.3(MSH6):c.668A>G (p.Asn223Ser)
|
rs587779316
|
0.00001
|
|
NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)
|
rs730881810
|
0.00001
|
|
NM_000179.3(MSH6):c.708A>T (p.Gln236His)
|
rs1322117538
|
0.00001
|
|
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)
|
rs587782510
|
0.00001
|
|
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)
|
rs377216828
|
0.00001
|
|
NM_000179.3(MSH6):c.737A>G (p.Lys246Arg)
|
rs1297205425
|
0.00001
|
|
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly)
|
rs63749980
|
0.00001
|
|
NM_000179.3(MSH6):c.761C>T (p.Ser254Phe)
|
rs876659191
|
0.00001
|
|
NM_000179.3(MSH6):c.784G>A (p.Asp262Asn)
|
rs1572720344
|
0.00001
|
|
NM_000179.3(MSH6):c.821G>A (p.Ser274Asn)
|
rs587779949
|
0.00001
|
|
NM_000179.3(MSH6):c.824G>C (p.Ser275Thr)
|
rs774586054
|
0.00001
|
|
NM_000179.3(MSH6):c.83C>T (p.Ser28Leu)
|
rs750949635
|
0.00001
|
|
NM_000179.3(MSH6):c.851A>T (p.Asp284Val)
|
rs1285950430
|
0.00001
|
|
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)
|
rs63750878
|
0.00001
|
|
NM_000179.3(MSH6):c.856G>A (p.Glu286Lys)
|
rs1057520605
|
0.00001
|
|
NM_000179.3(MSH6):c.873C>G (p.Asn291Lys)
|
rs876660529
|
0.00001
|
|
NM_000179.3(MSH6):c.875G>C (p.Ser292Thr)
|
rs587781389
|
0.00001
|
|
NM_000179.3(MSH6):c.88G>C (p.Glu30Gln)
|
rs1445690889
|
0.00001
|
|
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp)
|
rs779858670
|
0.00001
|
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
|
NM_000179.3(MSH6):c.910G>A (p.Val304Met)
|
rs876661207
|
0.00001
|
|
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)
|
rs760100983
|
0.00001
|
|
NM_000179.3(MSH6):c.941G>C (p.Ser314Thr)
|
rs760100983
|
0.00001
|
|
NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)
|
rs63750491
|
0.00001
|
|
NM_000179.3(MSH6):c.947G>A (p.Arg316Lys)
|
rs562487553
|
0.00001
|
|
NM_000179.3(MSH6):c.965C>A (p.Ala322Asp)
|
rs1253844411
|
0.00001
|
|
NM_000179.3(MSH6):c.973C>G (p.Gln325Glu)
|
rs1553412397
|
0.00001
|
|
NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)
|
rs730881814
|
0.00001
|
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
|
NM_000179.3(MSH6):c.98G>C (p.Arg33Pro)
|
rs878853751
|
0.00001
|
|
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)
|
rs886056143
|
0.00001
|
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
|
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)
|
rs569408054
|
0.00001
|
|
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)
|
rs1060502568
|
0.00001
|
|
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)
|
rs1232060384
|
0.00001
|
|
NM_000245.4(MET):c.*1477C>T
|
rs750893461
|
0.00001
|
|
NM_000245.4(MET):c.*41A>G
|
rs771518812
|
0.00001
|
|
NM_000245.4(MET):c.1029C>G (p.Phe343Leu)
|
rs56340719
|
0.00001
|
|
NM_000245.4(MET):c.102G>C (p.Glu34Asp)
|
rs1296330997
|
0.00001
|
|
NM_000245.4(MET):c.1033G>T (p.Val345Leu)
|
rs1232896056
|
0.00001
|
|
NM_000245.4(MET):c.107A>G (p.Asn36Ser)
|
rs1282716584
|
0.00001
|
|
NM_000245.4(MET):c.1099A>G (p.Ile367Val)
|
rs774146015
|
0.00001
|
|
NM_000245.4(MET):c.109G>T (p.Val37Leu)
|
rs863224692
|
0.00001
|
|
NM_000245.4(MET):c.1159C>T (p.Gln387Ter)
|
rs757846126
|
0.00001
|
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
|
NM_000245.4(MET):c.1178A>G (p.Asn393Ser)
|
rs754635450
|
0.00001
|
|
NM_000245.4(MET):c.1183G>A (p.Glu395Lys)
|
rs778469367
|
0.00001
|
|
NM_000245.4(MET):c.1222G>A (p.Gly408Ser)
|
rs1289461217
|
0.00001
|
|
NM_000245.4(MET):c.1232C>T (p.Ala411Val)
|
rs201154533
|
0.00001
|
|
NM_000245.4(MET):c.1237C>T (p.Arg413Cys)
|
rs201980687
|
0.00001
|
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
|
NM_000245.4(MET):c.1241A>C (p.Asp414Ala)
|
rs1554388638
|
0.00001
|
|
NM_000245.4(MET):c.1242T>A (p.Asp414Glu)
|
rs1230741853
|
0.00001
|
|
NM_000245.4(MET):c.1277G>A (p.Arg426His)
|
rs986139438
|
0.00001
|
|
NM_000245.4(MET):c.1303A>G (p.Ser435Gly)
|
rs1186230260
|
0.00001
|
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
|
NM_000245.4(MET):c.1392+5G>C
|
rs386833405
|
0.00001
|
|
NM_000245.4(MET):c.1406G>A (p.Arg469Gln)
|
rs752842662
|
0.00001
|
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
|
NM_000245.4(MET):c.146A>G (p.Glu49Gly)
|
rs370499060
|
0.00001
|
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
|
NM_000245.4(MET):c.1490A>G (p.Asn497Ser)
|
rs753713629
|
0.00001
|
|
NM_000245.4(MET):c.1527+6C>T
|
rs1793387165
|
0.00001
|
|
NM_000245.4(MET):c.154A>G (p.Ile52Val)
|
rs777336138
|
0.00001
|
|
NM_000245.4(MET):c.1552T>A (p.Leu518Met)
|
rs780293990
|
0.00001
|
|
NM_000245.4(MET):c.1562G>A (p.Arg521Lys)
|
rs1404664878
|
0.00001
|
|
NM_000245.4(MET):c.1604T>C (p.Phe535Ser)
|
rs1402713307
|
0.00001
|
|
NM_000245.4(MET):c.1660G>A (p.Gly554Arg)
|
rs200218511
|
0.00001
|
|
NM_000245.4(MET):c.1663A>G (p.Thr555Ala)
|
rs370883654
|
0.00001
|
|
NM_000245.4(MET):c.1677G>T (p.Gln559His)
|
rs1290346524
|
0.00001
|
|
NM_000245.4(MET):c.1693A>G (p.Ile565Val)
|
rs745479104
|
0.00001
|
|
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys)
|
rs1445578353
|
0.00001
|
|
NM_000245.4(MET):c.1699A>G (p.Lys567Glu)
|
rs769592729
|
0.00001
|
|
NM_000245.4(MET):c.1702-3T>C
|
rs754686930
|
0.00001
|
|
NM_000245.4(MET):c.1706T>C (p.Phe569Ser)
|
rs778626291
|
0.00001
|
|
NM_000245.4(MET):c.1739G>A (p.Arg580Lys)
|
rs201975130
|
0.00001
|
|
NM_000245.4(MET):c.173A>G (p.His58Arg)
|
rs374578653
|
0.00001
|
|
NM_000245.4(MET):c.1772G>A (p.Arg591Gln)
|
rs775965879
|
0.00001
|
|
NM_000245.4(MET):c.180T>A (p.His60Gln)
|
rs745740862
|
0.00001
|
|
NM_000245.4(MET):c.1858A>G (p.Asn620Asp)
|
rs372116735
|
0.00001
|
|
NM_000245.4(MET):c.1863-3C>T
|
rs1160304097
|
0.00001
|
|
NM_000245.4(MET):c.1898A>G (p.His633Arg)
|
rs45586239
|
0.00001
|
|
NM_000245.4(MET):c.1904A>G (p.Asn635Ser)
|
rs773826297
|
0.00001
|
|
NM_000245.4(MET):c.1907T>A (p.Met636Lys)
|
rs775011117
|
0.00001
|
|
NM_000245.4(MET):c.196G>T (p.Ala66Ser)
|
rs770341307
|
0.00001
|
|
NM_000245.4(MET):c.1986T>G (p.Ile662Met)
|
rs1408351682
|
0.00001
|
|
NM_000245.4(MET):c.199A>G (p.Thr67Ala)
|
rs202047059
|
0.00001
|
|
NM_000245.4(MET):c.2076T>G (p.Ile692Met)
|
rs752740791
|
0.00001
|
|
NM_000245.4(MET):c.2102+6G>A
|
rs757561412
|
0.00001
|
|
NM_000245.4(MET):c.2102+7T>C
|
rs1584941903
|
0.00001
|
|
NM_000245.4(MET):c.2128T>C (p.Tyr710His)
|
rs1794273981
|
0.00001
|
|
NM_000245.4(MET):c.2152A>C (p.Thr718Pro)
|
rs1794275099
|
0.00001
|
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
|
NM_000245.4(MET):c.2192G>A (p.Arg731Gln)
|
rs45446492
|
0.00001
|
|
NM_000245.4(MET):c.2260A>G (p.Ile754Val)
|
rs1060503539
|
0.00001
|
|
NM_000245.4(MET):c.2264+5G>A
|
rs745547523
|
0.00001
|
|
NM_000245.4(MET):c.2265-23A>G
|
rs750004615
|
0.00001
|
|
NM_000245.4(MET):c.2265-26G>A
|
rs552953455
|
0.00001
|
|
NM_000245.4(MET):c.2278A>G (p.Ile760Val)
|
rs786202191
|
0.00001
|
|
NM_000245.4(MET):c.2303A>G (p.Asn768Ser)
|
rs749126070
|
0.00001
|
|
NM_000245.4(MET):c.230A>C (p.Asp77Ala)
|
rs761221409
|
0.00001
|
|
NM_000245.4(MET):c.2333A>C (p.Asn778Thr)
|
rs1205392044
|
0.00001
|
|
NM_000245.4(MET):c.2339A>G (p.His780Arg)
|
rs375523121
|
0.00001
|
|
NM_000245.4(MET):c.2357T>C (p.Phe786Ser)
|
rs1794313226
|
0.00001
|
|
NM_000245.4(MET):c.2362G>A (p.Val788Met)
|
rs1489302008
|
0.00001
|
|
NM_000245.4(MET):c.2381C>G (p.Ser794Cys)
|
rs371939364
|
0.00001
|
|
NM_000245.4(MET):c.2393T>G (p.Ile798Arg)
|
rs764960693
|
0.00001
|
|
NM_000245.4(MET):c.2414C>T (p.Ser805Phe)
|
rs1410859976
|
0.00001
|
|
NM_000245.4(MET):c.241G>T (p.Val81Phe)
|
rs757883355
|
0.00001
|
|
NM_000245.4(MET):c.2435A>C (p.Gln812Pro)
|
rs777833095
|
0.00001
|
|
NM_000245.4(MET):c.2440C>A (p.Pro814Thr)
|
rs1052270861
|
0.00001
|
|
NM_000245.4(MET):c.2441C>T (p.Pro814Leu)
|
rs781452657
|
0.00001
|
|
NM_000245.4(MET):c.2466G>A (p.Met822Ile)
|
rs780538636
|
0.00001
|
|
NM_000245.4(MET):c.2471A>G (p.Asp824Gly)
|
rs1446482547
|
0.00001
|
|
NM_000245.4(MET):c.2493T>G (p.Phe831Leu)
|
rs749730267
|
0.00001
|
|
NM_000245.4(MET):c.249G>C (p.Glu83Asp)
|
rs751158831
|
0.00001
|
|
NM_000245.4(MET):c.2501T>C (p.Ile834Thr)
|
rs1215872095
|
0.00001
|
|
NM_000245.4(MET):c.2527C>G (p.Pro843Ala)
|
rs905891313
|
0.00001
|
|
NM_000245.4(MET):c.2528C>G (p.Pro843Arg)
|
rs762228405
|
0.00001
|
|
NM_000245.4(MET):c.2547G>C (p.Met849Ile)
|
rs747989932
|
0.00001
|
|
NM_000245.4(MET):c.2554A>G (p.Met852Val)
|
rs762863861
|
0.00001
|
|
NM_000245.4(MET):c.2591A>G (p.Asp864Gly)
|
rs778309347
|
0.00001
|
|
NM_000245.4(MET):c.2600C>G (p.Pro867Arg)
|
rs983062105
|
0.00001
|
|
NM_000245.4(MET):c.2613A>C (p.Lys871Asn)
|
rs1385709850
|
0.00001
|
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
|
NM_000245.4(MET):c.2693A>G (p.Asn898Ser)
|
rs766430458
|
0.00001
|
|
NM_000245.4(MET):c.2698C>G (p.Leu900Val)
|
rs1398243931
|
0.00001
|
|
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr)
|
rs1313347428
|
0.00001
|
|
NM_000245.4(MET):c.2714G>A (p.Ser905Asn)
|
rs753091019
|
0.00001
|
|
NM_000245.4(MET):c.2716G>A (p.Glu906Lys)
|
rs778115147
|
0.00001
|
|
NM_000245.4(MET):c.2731-9C>G
|
rs1794829593
|
0.00001
|
|
NM_000245.4(MET):c.2795C>T (p.Thr932Ile)
|
rs758486777
|
0.00001
|
|
NM_000245.4(MET):c.2802G>C (p.Leu934Phe)
|
rs1361155132
|
0.00001
|
|
NM_000245.4(MET):c.280G>T (p.Asp94Tyr)
|
rs899151863
|
0.00001
|
|
NM_000245.4(MET):c.281A>G (p.Asp94Gly)
|
rs368328347
|
0.00001
|
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
|
NM_000245.4(MET):c.2870A>G (p.Lys957Arg)
|
rs1794836962
|
0.00001
|
|
NM_000245.4(MET):c.2905G>C (p.Val969Leu)
|
rs757925979
|
0.00001
|
|
NM_000245.4(MET):c.2914G>A (p.Asp972Asn)
|
rs756031094
|
0.00001
|
|
NM_000245.4(MET):c.2974A>G (p.Thr992Ala)
|
rs774433287
|
0.00001
|
|
NM_000245.4(MET):c.2977A>G (p.Thr993Ala)
|
rs587778441
|
0.00001
|
|
NM_000245.4(MET):c.2986G>A (p.Val996Ile)
|
rs773447798
|
0.00001
|
|
NM_000245.4(MET):c.302G>A (p.Cys101Tyr)
|
rs1791473684
|
0.00001
|
|
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu)
|
rs565938550
|
0.00001
|
|
NM_000245.4(MET):c.305G>A (p.Ser102Asn)
|
rs779897466
|
0.00001
|
|
NM_000245.4(MET):c.306C>G (p.Ser102Arg)
|
rs749383450
|
0.00001
|
|
NM_000245.4(MET):c.308G>A (p.Ser103Asn)
|
rs768675699
|
0.00001
|
|
NM_000245.4(MET):c.3091A>G (p.Met1031Val)
|
rs45564937
|
0.00001
|
|
NM_000245.4(MET):c.3095C>T (p.Ser1032Phe)
|
rs1201989602
|
0.00001
|
|
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr)
|
rs1794949971
|
0.00001
|
|
NM_000245.4(MET):c.3134C>G (p.Pro1045Arg)
|
rs1554398862
|
0.00001
|
|
NM_000245.4(MET):c.3149C>G (p.Thr1050Ser)
|
rs1179812872
|
0.00001
|
|
NM_000245.4(MET):c.3152T>C (p.Val1051Ala)
|
rs1319458719
|
0.00001
|
|
NM_000245.4(MET):c.3155A>G (p.His1052Arg)
|
rs763398740
|
0.00001
|
|
NM_000245.4(MET):c.3157A>T (p.Ile1053Phe)
|
rs1278254320
|
0.00001
|
|
NM_000245.4(MET):c.3192G>C (p.Gln1064His)
|
rs974352099
|
0.00001
|
|
NM_000245.4(MET):c.319T>G (p.Leu107Val)
|
rs1791474714
|
0.00001
|
|
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg)
|
rs1554398900
|
0.00001
|
|
NM_000245.4(MET):c.3208G>A (p.Val1070Met)
|
rs760285693
|
0.00001
|
|
NM_000245.4(MET):c.3220A>G (p.Ser1074Gly)
|
rs764947837
|
0.00001
|
|
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser)
|
rs1794954978
|
0.00001
|
|
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser)
|
rs764213589
|
0.00001
|
|
NM_000245.4(MET):c.3250A>G (p.Ile1084Val)
|
rs757539632
|
0.00001
|
|
NM_000245.4(MET):c.331G>A (p.Val111Ile)
|
rs368750834
|
0.00001
|
|
NM_000245.4(MET):c.3397G>C (p.Asp1133His)
|
rs745437003
|
0.00001
|
|
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)
|
rs1394199299
|
0.00001
|
|
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu)
|
rs375395179
|
0.00001
|
|
NM_000245.4(MET):c.3430G>A (p.Gly1144Arg)
|
rs1795070539
|
0.00001
|
|
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln)
|
rs761808213
|
0.00001
|
|
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter)
|
rs200754673
|
0.00001
|
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
|
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala)
|
rs779636840
|
0.00001
|
|
NM_000245.4(MET):c.3539A>T (p.Asp1180Val)
|
rs751961995
|
0.00001
|
|
NM_000245.4(MET):c.356C>T (p.Ala119Val)
|
rs904162290
|
0.00001
|
|
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr)
|
rs970206545
|
0.00001
|
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
|
NM_000245.4(MET):c.3685A>G (p.Met1229Val)
|
rs768125521
|
0.00001
|
|
NM_000245.4(MET):c.3686T>C (p.Met1229Thr)
|
rs1193542215
|
0.00001
|
|
NM_000245.4(MET):c.3727G>A (p.Ala1243Thr)
|
rs752351789
|
0.00001
|
|
NM_000245.4(MET):c.377A>G (p.Tyr126Cys)
|
rs542267057
|
0.00001
|
|
NM_000245.4(MET):c.3859G>A (p.Val1287Ile)
|
rs780102059
|
0.00001
|
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
|
NM_000245.4(MET):c.3916G>A (p.Glu1306Lys)
|
rs1436537175
|
0.00001
|
|
NM_000245.4(MET):c.391A>G (p.Ile131Val)
|
rs1309236031
|
0.00001
|
|
NM_000245.4(MET):c.3935+6T>C
|
rs1301383613
|
0.00001
|
|
NM_000245.4(MET):c.3937T>C (p.Tyr1313His)
|
rs1290917552
|
0.00001
|
|
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln)
|
rs1159812687
|
0.00001
|
|
NM_000245.4(MET):c.3960G>A (p.Trp1320Ter)
|
rs1174194833
|
0.00001
|
|
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys)
|
rs587778444
|
0.00001
|
|
NM_000245.4(MET):c.3980G>A (p.Arg1327His)
|
rs1443741792
|
0.00001
|
|
NM_000245.4(MET):c.3997C>G (p.Leu1333Val)
|
rs758738756
|
0.00001
|
|
NM_000245.4(MET):c.400G>A (p.Gly134Ser)
|
rs1584876675
|
0.00001
|
|
NM_000245.4(MET):c.4018A>G (p.Ile1340Val)
|
rs1060503543
|
0.00001
|
|
NM_000245.4(MET):c.4042C>A (p.His1348Asn)
|
rs773772398
|
0.00001
|
|
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr)
|
rs766190061
|
0.00001
|
|
NM_000245.4(MET):c.4097C>A (p.Pro1366His)
|
rs778084120
|
0.00001
|
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
rs758486336
|
0.00001
|
|
NM_000245.4(MET):c.4151C>G (p.Ala1384Gly)
|
rs202166889
|
0.00001
|
|
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr)
|
rs764303128
|
0.00001
|
|
NM_000245.4(MET):c.427C>T (p.Arg143Ter)
|
rs779093896
|
0.00001
|
|
NM_000245.4(MET):c.433G>A (p.Val145Ile)
|
rs1410705895
|
0.00001
|
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
|
NM_000245.4(MET):c.447T>G (p.Asn149Lys)
|
rs974448652
|
0.00001
|
|
NM_000245.4(MET):c.448C>T (p.His150Tyr)
|
rs1436957498
|
0.00001
|
|
NM_000245.4(MET):c.462A>G (p.Ile154Met)
|
rs771146873
|
0.00001
|
|
NM_000245.4(MET):c.481A>G (p.Ile161Val)
|
rs1584876914
|
0.00001
|
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
|
NM_000245.4(MET):c.508A>C (p.Ser170Arg)
|
rs750102016
|
0.00001
|
|
NM_000245.4(MET):c.50C>T (p.Thr17Ile)
|
rs747777018
|
0.00001
|
|
NM_000245.4(MET):c.527T>C (p.Val176Ala)
|
rs1343674412
|
0.00001
|
|
NM_000245.4(MET):c.541G>A (p.Gly181Arg)
|
rs779040487
|
0.00001
|
|
NM_000245.4(MET):c.553C>A (p.Leu185Ile)
|
rs376097698
|
0.00001
|
|
NM_000245.4(MET):c.572G>A (p.Arg191Gln)
|
rs879254342
|
0.00001
|
|
NM_000245.4(MET):c.599C>A (p.Thr200Asn)
|
rs786202727
|
0.00001
|
|
NM_000245.4(MET):c.600C>G (p.Thr200=)
|
rs1225303075
|
0.00001
|
|
NM_000245.4(MET):c.620C>G (p.Pro207Arg)
|
rs1246281148
|
0.00001
|
|
NM_000245.4(MET):c.625C>T (p.His209Tyr)
|
rs866183824
|
0.00001
|
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
0.00001
|
|
NM_000245.4(MET):c.65G>T (p.Ser22Ile)
|
rs587780739
|
0.00001
|
|
NM_000245.4(MET):c.670G>T (p.Asp224Tyr)
|
rs765257726
|
0.00001
|
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
|
NM_000245.4(MET):c.704T>C (p.Ile235Thr)
|
rs1060503530
|
0.00001
|
|
NM_000245.4(MET):c.716C>T (p.Pro239Leu)
|
rs45551737
|
0.00001
|
|
NM_000245.4(MET):c.769A>G (p.Asn257Asp)
|
rs776407390
|
0.00001
|
|
NM_000245.4(MET):c.776T>C (p.Ile259Thr)
|
rs587780548
|
0.00001
|
|
NM_000245.4(MET):c.808G>C (p.Asp270His)
|
rs1060503542
|
0.00001
|
|
NM_000245.4(MET):c.840G>T (p.Arg280Ser)
|
rs1207381066
|
0.00001
|
|
NM_000245.4(MET):c.866A>G (p.His289Arg)
|
rs1584877845
|
0.00001
|
|
NM_000245.4(MET):c.874A>C (p.Met292Leu)
|
rs1395827839
|
0.00001
|
|
NM_000245.4(MET):c.983A>G (p.Gln328Arg)
|
rs1165913241
|
0.00001
|
|
NM_000249.3(MLH1):c.-114T>C
|
rs886058380
|
0.00001
|
|
NM_000249.4(MLH1):c.*121A>G
|
rs766562208
|
0.00001
|
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
|
NM_000249.4(MLH1):c.-22C>T
|
rs771060933
|
0.00001
|
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
|
NM_000249.4(MLH1):c.1019C>T (p.Ser340Phe)
|
rs191257018
|
0.00001
|
|
NM_000249.4(MLH1):c.1034C>T (p.Thr345Ile)
|
rs750980386
|
0.00001
|
|
NM_000249.4(MLH1):c.1038+15C>T
|
rs886058382
|
0.00001
|
|
NM_000249.4(MLH1):c.1043T>C (p.Leu348Ser)
|
rs755401753
|
0.00001
|
|
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)
|
rs752962453
|
0.00001
|
|
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)
|
rs756347993
|
0.00001
|
|
NM_000249.4(MLH1):c.1076T>C (p.Met359Thr)
|
rs779917781
|
0.00001
|
|
NM_000249.4(MLH1):c.107T>C (p.Ile36Thr)
|
rs267607707
|
0.00001
|
|
NM_000249.4(MLH1):c.1090A>G (p.Thr364Ala)
|
rs63749864
|
0.00001
|
|
NM_000249.4(MLH1):c.1100C>A (p.Thr367Asn)
|
rs776402584
|
0.00001
|
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
|
NM_000249.4(MLH1):c.1111A>G (p.Thr371Ala)
|
rs762426947
|
0.00001
|
|
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)
|
rs774878513
|
0.00001
|
|
NM_000249.4(MLH1):c.111G>C (p.Glu37Asp)
|
rs864622485
|
0.00001
|
|
NM_000249.4(MLH1):c.1135T>C (p.Tyr379His)
|
rs1464558556
|
0.00001
|
|
NM_000249.4(MLH1):c.1139C>T (p.Ala380Val)
|
rs867554226
|
0.00001
|
|
NM_000249.4(MLH1):c.1141C>T (p.His381Tyr)
|
rs63750557
|
0.00001
|
|
NM_000249.4(MLH1):c.1146G>C (p.Gln382His)
|
rs876658801
|
0.00001
|
|
NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)
|
rs757350157
|
0.00001
|
|
NM_000249.4(MLH1):c.1157C>T (p.Thr386Ile)
|
rs1443882824
|
0.00001
|
|
NM_000249.4(MLH1):c.116+14C>G
|
rs773103242
|
0.00001
|
|
NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg)
|
rs587780678
|
0.00001
|
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
|
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser)
|
rs587778897
|
0.00001
|
|
NM_000249.4(MLH1):c.1208C>G (p.Pro403Arg)
|
rs1311368931
|
0.00001
|
|
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)
|
rs864622687
|
0.00001
|
|
NM_000249.4(MLH1):c.1226A>G (p.Gln409Arg)
|
rs104895000
|
0.00001
|
|
NM_000249.4(MLH1):c.1236C>T (p.Val412=)
|
rs369576099
|
0.00001
|
|
NM_000249.4(MLH1):c.1238C>T (p.Thr413Ile)
|
rs63750766
|
0.00001
|
|
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)
|
rs373767220
|
0.00001
|
|
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu)
|
rs750563193
|
0.00001
|
|
NM_000249.4(MLH1):c.1252G>A (p.Asp418Asn)
|
rs1355987936
|
0.00001
|
|
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly)
|
rs755898663
|
0.00001
|
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
|
NM_000249.4(MLH1):c.1293G>A (p.Met431Ile)
|
rs776044212
|
0.00001
|
|
NM_000249.4(MLH1):c.1295T>A (p.Leu432His)
|
rs761070985
|
0.00001
|
|
NM_000249.4(MLH1):c.1297G>C (p.Glu433Gln)
|
rs63750443
|
0.00001
|
|
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)
|
rs34213726
|
0.00001
|
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
|
NM_000249.4(MLH1):c.1354A>G (p.Thr452Ala)
|
rs34285587
|
0.00001
|
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
|
NM_000249.4(MLH1):c.1370A>T (p.Glu457Val)
|
rs786203236
|
0.00001
|
|
NM_000249.4(MLH1):c.1400G>A (p.Ser467Asn)
|
rs771610811
|
0.00001
|
|
NM_000249.4(MLH1):c.1409+3A>G
|
rs780517601
|
0.00001
|
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
|
NM_000249.4(MLH1):c.1417C>T (p.His473Tyr)
|
rs924092154
|
0.00001
|
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
|
NM_000249.4(MLH1):c.1432G>T (p.Asp478Tyr)
|
rs771282761
|
0.00001
|
|
NM_000249.4(MLH1):c.1442T>C (p.Met481Thr)
|
rs1575552305
|
0.00001
|
|
NM_000249.4(MLH1):c.144A>C (p.Gln48His)
|
rs147342421
|
0.00001
|
|
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)
|
rs876659795
|
0.00001
|
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
|
NM_000249.4(MLH1):c.1468A>G (p.Met490Val)
|
rs776671941
|
0.00001
|
|
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)
|
rs754554026
|
0.00001
|
|
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met)
|
rs887474856
|
0.00001
|
|
NM_000249.4(MLH1):c.1521G>C (p.Leu507Phe)
|
rs863224633
|
0.00001
|
|
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)
|
rs876658689
|
0.00001
|
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
|
NM_000249.4(MLH1):c.1553A>G (p.His518Arg)
|
rs1182262731
|
0.00001
|
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
|
NM_000249.4(MLH1):c.157G>A (p.Glu53Lys)
|
rs63751199
|
0.00001
|
|
NM_000249.4(MLH1):c.1591G>A (p.Val531Met)
|
rs764663152
|
0.00001
|
|
NM_000249.4(MLH1):c.160G>A (p.Gly54Arg)
|
rs1315572872
|
0.00001
|
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
|
NM_000249.4(MLH1):c.1640T>C (p.Leu547Ser)
|
rs63750300
|
0.00001
|
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
|
NM_000249.4(MLH1):c.1669G>A (p.Glu557Lys)
|
rs63751244
|
0.00001
|
|
NM_000249.4(MLH1):c.1670A>G (p.Glu557Gly)
|
rs1235304501
|
0.00001
|
|
NM_000249.4(MLH1):c.1675C>A (p.Leu559Met)
|
rs780221881
|
0.00001
|
|
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)
|
rs1289807424
|
0.00001
|
|
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)
|
rs63750062
|
0.00001
|
|
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)
|
rs876658915
|
0.00001
|
|
NM_000249.4(MLH1):c.1715G>A (p.Gly572Asp)
|
rs781178304
|
0.00001
|
|
NM_000249.4(MLH1):c.1724G>C (p.Arg575Thr)
|
rs748185540
|
0.00001
|
|
NM_000249.4(MLH1):c.1732G>A (p.Glu578Lys)
|
rs863224635
|
0.00001
|
|
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)
|
rs63751713
|
0.00001
|
|
NM_000249.4(MLH1):c.1760T>C (p.Met587Thr)
|
rs587778945
|
0.00001
|
|
NM_000249.4(MLH1):c.1761G>A (p.Met587Ile)
|
rs747665234
|
0.00001
|
|
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)
|
rs769239969
|
0.00001
|
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
|
NM_000249.4(MLH1):c.1817G>C (p.Gly606Ala)
|
rs1355248187
|
0.00001
|
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
|
NM_000249.4(MLH1):c.1842T>G (p.Phe614Leu)
|
rs758353338
|
0.00001
|
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
|
NM_000249.4(MLH1):c.1856C>A (p.Ala619Asp)
|
rs747708787
|
0.00001
|
|
NM_000249.4(MLH1):c.1862T>A (p.Met621Lys)
|
rs1559588530
|
0.00001
|
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+17T>C
|
rs193922368
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+3G>A
|
rs1060500695
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+5G>A
|
rs759870594
|
0.00001
|
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
|
NM_000249.4(MLH1):c.1901G>T (p.Gly634Val)
|
rs786202396
|
0.00001
|
|
NM_000249.4(MLH1):c.1904A>G (p.Asn635Ser)
|
rs63751270
|
0.00001
|
|
NM_000249.4(MLH1):c.1945C>T (p.Pro649Ser)
|
rs1280930048
|
0.00001
|
|
NM_000249.4(MLH1):c.1989+12A>G
|
rs755976424
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
|
NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp)
|
rs1312172811
|
0.00001
|
|
NM_000249.4(MLH1):c.2017T>C (p.Phe673Leu)
|
rs587780680
|
0.00001
|
|
NM_000249.4(MLH1):c.2050T>C (p.Tyr684His)
|
rs1386031101
|
0.00001
|
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
|
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)
|
rs587781310
|
0.00001
|
|
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)
|
rs550890395
|
0.00001
|
|
NM_000249.4(MLH1):c.2072T>A (p.Ile691Lys)
|
rs781780309
|
0.00001
|
|
NM_000249.4(MLH1):c.2072T>C (p.Ile691Thr)
|
rs781780309
|
0.00001
|
|
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)
|
rs747727493
|
0.00001
|
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
0.00001
|
|
NM_000249.4(MLH1):c.2136G>T (p.Trp712Cys)
|
rs63750499
|
0.00001
|
|
NM_000249.4(MLH1):c.2147T>C (p.Val716Ala)
|
rs1251881236
|
0.00001
|
|
NM_000249.4(MLH1):c.2151A>T (p.Glu717Asp)
|
rs1553665630
|
0.00001
|
|
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His)
|
rs1453792999
|
0.00001
|
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
|
NM_000249.4(MLH1):c.2167G>A (p.Ala723Thr)
|
rs1392532273
|
0.00001
|
|
NM_000249.4(MLH1):c.2219T>C (p.Ile740Thr)
|
rs1044486319
|
0.00001
|
|
NM_000249.4(MLH1):c.221A>T (p.Asp74Val)
|
rs751894165
|
0.00001
|
|
NM_000249.4(MLH1):c.2228T>G (p.Leu743Arg)
|
rs864622258
|
0.00001
|
|
NM_000249.4(MLH1):c.2240C>G (p.Pro747Arg)
|
rs1224959447
|
0.00001
|
|
NM_000249.4(MLH1):c.2242G>C (p.Asp748His)
|
rs374380262
|
0.00001
|
|
NM_000249.4(MLH1):c.2254G>C (p.Val752Leu)
|
rs1196350669
|
0.00001
|
|
NM_000249.4(MLH1):c.266A>G (p.Glu89Gly)
|
rs758110228
|
0.00001
|
|
NM_000249.4(MLH1):c.26G>A (p.Arg9Gln)
|
rs1274810165
|
0.00001
|
|
NM_000249.4(MLH1):c.275C>T (p.Ala92Val)
|
rs768132746
|
0.00001
|
|
NM_000249.4(MLH1):c.280A>G (p.Ile94Val)
|
rs1399177067
|
0.00001
|
|
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)
|
rs63751070
|
0.00001
|
|
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)
|
rs777971423
|
0.00001
|
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
|
NM_000249.4(MLH1):c.317G>A (p.Ser106Asn)
|
rs368208495
|
0.00001
|
|
NM_000249.4(MLH1):c.319A>C (p.Ile107Leu)
|
rs572906317
|
0.00001
|
|
NM_000249.4(MLH1):c.335A>G (p.His112Arg)
|
rs775914775
|
0.00001
|
|
NM_000249.4(MLH1):c.343A>G (p.Ile115Val)
|
rs371667663
|
0.00001
|
|
NM_000249.4(MLH1):c.344T>C (p.Ile115Thr)
|
rs764120517
|
0.00001
|
|
NM_000249.4(MLH1):c.346A>G (p.Thr116Ala)
|
rs750353040
|
0.00001
|
|
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)
|
rs267607740
|
0.00001
|
|
NM_000249.4(MLH1):c.370T>C (p.Cys124Arg)
|
rs780816243
|
0.00001
|
|
NM_000249.4(MLH1):c.380+5A>G
|
rs1267759029
|
0.00001
|
|
NM_000249.4(MLH1):c.380+6G>A
|
rs1185917556
|
0.00001
|
|
NM_000249.4(MLH1):c.385A>G (p.Ser129Gly)
|
rs1333790237
|
0.00001
|
|
NM_000249.4(MLH1):c.386G>A (p.Ser129Asn)
|
rs755678310
|
0.00001
|
|
NM_000249.4(MLH1):c.44T>C (p.Val15Ala)
|
rs864622396
|
0.00001
|
|
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)
|
rs776969475
|
0.00001
|
|
NM_000249.4(MLH1):c.454-10T>G
|
rs1260098414
|
0.00001
|
|
NM_000249.4(MLH1):c.454G>A (p.Val152Met)
|
rs748417604
|
0.00001
|
|
NM_000249.4(MLH1):c.458A>G (p.Glu153Gly)
|
rs770023778
|
0.00001
|
|
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn)
|
rs765014361
|
0.00001
|
|
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)
|
rs1448308275
|
0.00001
|
|
NM_000249.4(MLH1):c.506C>T (p.Pro169Leu)
|
rs63750834
|
0.00001
|
|
NM_000249.4(MLH1):c.513A>G (p.Glu171=)
|
rs779148982
|
0.00001
|
|
NM_000249.4(MLH1):c.520G>A (p.Gly174Arg)
|
rs1391774700
|
0.00001
|
|
NM_000249.4(MLH1):c.532G>C (p.Glu178Gln)
|
rs1248251121
|
0.00001
|
|
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser)
|
rs1064795694
|
0.00001
|
|
NM_000249.4(MLH1):c.546-3C>T
|
rs752997536
|
0.00001
|
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
|
NM_000249.4(MLH1):c.568A>G (p.Ile190Val)
|
rs786202038
|
0.00001
|
|
NM_000249.4(MLH1):c.589-17T>A
|
rs754180618
|
0.00001
|
|
NM_000249.4(MLH1):c.599C>T (p.Thr200Ile)
|
rs1302815708
|
0.00001
|
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
|
NM_000249.4(MLH1):c.601G>C (p.Val201Leu)
|
rs534184145
|
0.00001
|
|
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)
|
rs587781509
|
0.00001
|
|
NM_000249.4(MLH1):c.634A>G (p.Thr212Ala)
|
rs771612764
|
0.00001
|
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
|
NM_000249.4(MLH1):c.666T>G (p.Asn222Lys)
|
rs751719069
|
0.00001
|
|
NM_000249.4(MLH1):c.678-4A>G
|
rs766711342
|
0.00001
|
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
|
NM_000249.4(MLH1):c.688G>C (p.Glu230Gln)
|
rs1466223609
|
0.00001
|
|
NM_000249.4(MLH1):c.695G>T (p.Gly232Val)
|
rs149302013
|
0.00001
|
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
|
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu)
|
rs587778447
|
0.00001
|
|
NM_000249.4(MLH1):c.736A>G (p.Ile246Val)
|
rs750253749
|
0.00001
|
|
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)
|
rs63750948
|
0.00001
|
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
|
NM_000249.4(MLH1):c.774C>G (p.Phe258Leu)
|
rs1306127402
|
0.00001
|
|
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)
|
rs63750642
|
0.00001
|
|
NM_000249.4(MLH1):c.782T>A (p.Phe261Tyr)
|
rs1359073993
|
0.00001
|
|
NM_000249.4(MLH1):c.786C>G (p.Ile262Met)
|
rs748553134
|
0.00001
|
|
NM_000249.4(MLH1):c.788A>G (p.Asn263Ser)
|
rs104894997
|
0.00001
|
|
NM_000249.4(MLH1):c.797T>C (p.Leu266Pro)
|
rs747697495
|
0.00001
|
|
NM_000249.4(MLH1):c.799G>A (p.Val267Ile)
|
rs876660752
|
0.00001
|
|
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)
|
rs756398627
|
0.00001
|
|
NM_000249.4(MLH1):c.805T>A (p.Ser269Thr)
|
rs786203623
|
0.00001
|
|
NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)
|
rs769958855
|
0.00001
|
|
NM_000249.4(MLH1):c.826A>G (p.Ile276Val)
|
rs876660395
|
0.00001
|
|
NM_000249.4(MLH1):c.828A>G (p.Ile276Met)
|
rs1036438114
|
0.00001
|
|
NM_000249.4(MLH1):c.842C>G (p.Ala281Gly)
|
rs63749950
|
0.00001
|
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
|
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile)
|
rs786203878
|
0.00001
|
|
NM_000249.4(MLH1):c.880C>T (p.Leu294Phe)
|
rs2082757345
|
0.00001
|
|
NM_000249.4(MLH1):c.885-3C>T
|
rs774073825
|
0.00001
|
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
|
NM_000249.4(MLH1):c.940G>T (p.Val314Phe)
|
rs863224639
|
0.00001
|
|
NM_000249.4(MLH1):c.943C>T (p.His315Tyr)
|
rs151119913
|
0.00001
|
|
NM_000249.4(MLH1):c.973C>T (p.Arg325Trp)
|
rs1064793519
|
0.00001
|
|
NM_000249.4(MLH1):c.976G>A (p.Val326Met)
|
rs730881739
|
0.00001
|
|
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)
|
rs587782087
|
0.00001
|
|
NM_000249.4(MLH1):c.996C>T (p.Ser332=)
|
rs775167683
|
0.00001
|
|
NM_000251.2(MSH2):c.-43G>C
|
rs781492698
|
0.00001
|
|
NM_000251.2(MSH2):c.-78T>A
|
rs876658616
|
0.00001
|
|
NM_000251.2(MSH2):c.-94C>G
|
rs786202841
|
0.00001
|
|
NM_000251.2(MSH2):c.-98C>T
|
rs777285149
|
0.00001
|
|
NM_000251.3(MSH2):c.-10A>G
|
rs765201464
|
0.00001
|
|
NM_000251.3(MSH2):c.-18A>T
|
rs759730085
|
0.00001
|
|
NM_000251.3(MSH2):c.-21A>G
|
rs776559145
|
0.00001
|
|
NM_000251.3(MSH2):c.-22C>T
|
rs770870694
|
0.00001
|
|
NM_000251.3(MSH2):c.-2A>C
|
rs906564011
|
0.00001
|
|
NM_000251.3(MSH2):c.-4C>T
|
rs1376741577
|
0.00001
|
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
|
NM_000251.3(MSH2):c.100G>A (p.Val34Met)
|
rs1064793541
|
0.00001
|
|
NM_000251.3(MSH2):c.103C>T (p.Arg35Cys)
|
rs1060502034
|
0.00001
|
|
NM_000251.3(MSH2):c.1076+3A>G
|
rs267607941
|
0.00001
|
|
NM_000251.3(MSH2):c.1076+4T>C
|
rs764606343
|
0.00001
|
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
|
NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)
|
rs770201760
|
0.00001
|
|
NM_000251.3(MSH2):c.1122G>C (p.Gln374His)
|
rs370378607
|
0.00001
|
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.1135G>T (p.Asp379Tyr)
|
rs764911657
|
0.00001
|
|
NM_000251.3(MSH2):c.1141C>A (p.Leu381Ile)
|
rs1573484556
|
0.00001
|
|
NM_000251.3(MSH2):c.1145G>A (p.Arg382His)
|
rs267607947
|
0.00001
|
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
|
NM_000251.3(MSH2):c.1148G>T (p.Arg383Leu)
|
rs376934727
|
0.00001
|
|
NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)
|
rs564736113
|
0.00001
|
|
NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)
|
rs1419725521
|
0.00001
|
|
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)
|
rs1203515094
|
0.00001
|
|
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)
|
rs757276241
|
0.00001
|
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
|
NM_000251.3(MSH2):c.1172C>A (p.Ala391Asp)
|
rs864622674
|
0.00001
|
|
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)
|
rs61756465
|
0.00001
|
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
|
NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)
|
rs878853799
|
0.00001
|
|
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)
|
rs63750379
|
0.00001
|
|
NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)
|
rs1354753753
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1244C>G (p.Pro415Arg)
|
rs1463763476
|
0.00001
|
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
|
NM_000251.3(MSH2):c.1267A>G (p.Lys423Glu)
|
rs201059765
|
0.00001
|
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
|
NM_000251.3(MSH2):c.1276+4A>G
|
rs1481785592
|
0.00001
|
|
NM_000251.3(MSH2):c.1276+5C>A
|
rs755284496
|
0.00001
|
|
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)
|
rs768070717
|
0.00001
|
|
NM_000251.3(MSH2):c.1334C>T (p.Ser445Phe)
|
rs752067883
|
0.00001
|
|
NM_000251.3(MSH2):c.1341C>G (p.Phe447Leu)
|
rs587781373
|
0.00001
|
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
|
NM_000251.3(MSH2):c.1358T>C (p.Met453Thr)
|
rs63750697
|
0.00001
|
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
|
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)
|
rs1060502025
|
0.00001
|
|
NM_000251.3(MSH2):c.1363G>C (p.Glu455Gln)
|
rs1675074360
|
0.00001
|
|
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)
|
rs575905950
|
0.00001
|
|
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
|
NM_000251.3(MSH2):c.1397A>G (p.His466Arg)
|
rs544265737
|
0.00001
|
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
|
NM_000251.3(MSH2):c.1424A>T (p.Asp475Val)
|
rs1349765126
|
0.00001
|
|
NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe)
|
rs1051194508
|
0.00001
|
|
NM_000251.3(MSH2):c.1435A>C (p.Ser479Arg)
|
rs770550720
|
0.00001
|
|
NM_000251.3(MSH2):c.1444A>G (p.Arg482Gly)
|
rs587779092
|
0.00001
|
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
|
NM_000251.3(MSH2):c.1475T>C (p.Met492Thr)
|
rs1357803103
|
0.00001
|
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
|
NM_000251.3(MSH2):c.1484C>T (p.Thr495Ile)
|
rs756516114
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1496C>T (p.Ala499Val)
|
rs1186764263
|
0.00001
|
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
|
NM_000251.3(MSH2):c.1573G>A (p.Val525Ile)
|
rs1396878326
|
0.00001
|
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
|
NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)
|
rs587782354
|
0.00001
|
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
|
NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)
|
rs748196422
|
0.00001
|
|
NM_000251.3(MSH2):c.1653T>A (p.Phe551Leu)
|
rs876660635
|
0.00001
|
|
NM_000251.3(MSH2):c.1657A>T (p.Asn553Tyr)
|
rs772772789
|
0.00001
|
|
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser)
|
rs139920308
|
0.00001
|
|
NM_000251.3(MSH2):c.1679A>T (p.Asn560Ile)
|
rs1429353441
|
0.00001
|
|
NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln)
|
rs1114167816
|
0.00001
|
|
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)
|
rs587779963
|
0.00001
|
|
NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)
|
rs774985655
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-3C>T
|
rs786202843
|
0.00001
|
|
NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu)
|
rs587782643
|
0.00001
|
|
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)
|
rs1449905909
|
0.00001
|
|
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)
|
rs1553368510
|
0.00001
|
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
|
NM_000251.3(MSH2):c.1831G>A (p.Val611Met)
|
rs369385048
|
0.00001
|
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
|
NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg)
|
rs371776176
|
0.00001
|
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
|
NM_000251.3(MSH2):c.18G>C (p.Lys6Asn)
|
rs146017810
|
0.00001
|
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
|
NM_000251.3(MSH2):c.192C>G (p.Ile64Met)
|
rs1395172053
|
0.00001
|
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
|
NM_000251.3(MSH2):c.1999A>G (p.Ile667Val)
|
rs876660585
|
0.00001
|
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
|
NM_000251.3(MSH2):c.19G>A (p.Glu7Lys)
|
rs375561490
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
|
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
|
NM_000251.3(MSH2):c.2050G>T (p.Val684Leu)
|
rs1060502041
|
0.00001
|
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
|
NM_000251.3(MSH2):c.2083G>C (p.Val695Leu)
|
rs772491283
|
0.00001
|
|
NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser)
|
rs546201898
|
0.00001
|
|
NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)
|
rs587778522
|
0.00001
|
|
NM_000251.3(MSH2):c.2102A>C (p.Glu701Ala)
|
rs876659187
|
0.00001
|
|
NM_000251.3(MSH2):c.2106G>A (p.Val702=)
|
rs786201108
|
0.00001
|
|
NM_000251.3(MSH2):c.211+5G>T
|
rs1060501999
|
0.00001
|
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
|
NM_000251.3(MSH2):c.212-3A>T
|
rs879255341
|
0.00001
|
|
NM_000251.3(MSH2):c.2122A>G (p.Ile708Val)
|
rs750084297
|
0.00001
|
|
NM_000251.3(MSH2):c.2123T>C (p.Ile708Thr)
|
rs63750108
|
0.00001
|
|
NM_000251.3(MSH2):c.2129C>G (p.Ala710Gly)
|
rs373717132
|
0.00001
|
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
|
NM_000251.3(MSH2):c.2141C>T (p.Ala714Val)
|
rs63751224
|
0.00001
|
|
NM_000251.3(MSH2):c.2156T>G (p.Leu719Trp)
|
rs777933557
|
0.00001
|
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
|
NM_000251.3(MSH2):c.2170A>G (p.Thr724Ala)
|
rs879254203
|
0.00001
|
|
NM_000251.3(MSH2):c.2171C>T (p.Thr724Met)
|
rs63751125
|
0.00001
|
|
NM_000251.3(MSH2):c.217A>G (p.Lys73Glu)
|
rs770110491
|
0.00001
|
|
NM_000251.3(MSH2):c.2187G>A (p.Met729Ile)
|
rs587779141
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
|
NM_000251.3(MSH2):c.228G>T (p.Gln76His)
|
rs587782857
|
0.00001
|
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
|
NM_000251.3(MSH2):c.2319G>C (p.Lys773Asn)
|
rs745528772
|
0.00001
|
|
NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)
|
rs775464903
|
0.00001
|
|
NM_000251.3(MSH2):c.2337G>A (p.Met779Ile)
|
rs41295292
|
0.00001
|
|
NM_000251.3(MSH2):c.2348A>G (p.His783Arg)
|
rs587781594
|
0.00001
|
|
NM_000251.3(MSH2):c.2376T>A (p.Asn792Lys)
|
rs1281667531
|
0.00001
|
|
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)
|
rs876660738
|
0.00001
|
|
NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)
|
rs863224641
|
0.00001
|
|
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)
|
rs63751168
|
0.00001
|
|
NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)
|
rs1064793491
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)
|
rs587781678
|
0.00001
|
|
NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)
|
rs768572053
|
0.00001
|
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
|
NM_000251.3(MSH2):c.2487T>G (p.His829Gln)
|
rs989510855
|
0.00001
|
|
NM_000251.3(MSH2):c.2496G>T (p.Glu832Asp)
|
rs763361583
|
0.00001
|
|
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)
|
rs779729016
|
0.00001
|
|
NM_000251.3(MSH2):c.2507T>C (p.Phe836Ser)
|
rs942412988
|
0.00001
|
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
|
NM_000251.3(MSH2):c.2532_2534dup (p.Ala844_Lys845insAsn)
|
rs1208434860
|
0.00001
|
|
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)
|
rs746972142
|
0.00001
|
|
NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)
|
rs587778527
|
0.00001
|
|
NM_000251.3(MSH2):c.2546T>G (p.Leu849Arg)
|
rs1316766241
|
0.00001
|
|
NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)
|
rs587779966
|
0.00001
|
|
NM_000251.3(MSH2):c.2564A>G (p.Gln855Arg)
|
rs587782256
|
0.00001
|
|
NM_000251.3(MSH2):c.2565G>T (p.Gln855His)
|
rs1553370408
|
0.00001
|
|
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val)
|
rs753459308
|
0.00001
|
|
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)
|
rs1400051085
|
0.00001
|
|
NM_000251.3(MSH2):c.2591A>G (p.Asp864Gly)
|
rs863224642
|
0.00001
|
|
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)
|
rs1013401625
|
0.00001
|
|
NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)
|
rs549759248
|
0.00001
|
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
|
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)
|
rs768983827
|
0.00001
|
|
NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr)
|
rs63750409
|
0.00001
|
|
NM_000251.3(MSH2):c.2656G>A (p.Glu886Lys)
|
rs1230083633
|
0.00001
|
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
|
NM_000251.3(MSH2):c.266T>C (p.Val89Ala)
|
rs876659747
|
0.00001
|
|
NM_000251.3(MSH2):c.2716A>G (p.Ile906Val)
|
rs876658598
|
0.00001
|
|
NM_000251.3(MSH2):c.2718A>G (p.Ile906Met)
|
rs876659835
|
0.00001
|
|
NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg)
|
rs34319539
|
0.00001
|
|
NM_000251.3(MSH2):c.2746A>C (p.Ile916Leu)
|
rs751216225
|
0.00001
|
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
|
NM_000251.3(MSH2):c.2768T>A (p.Val923Glu)
|
rs146421227
|
0.00001
|
|
NM_000251.3(MSH2):c.2789dup (p.Val932fs)
|
rs786202481
|
0.00001
|
|
NM_000251.3(MSH2):c.280C>G (p.Leu94Val)
|
rs1330621664
|
0.00001
|
|
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)
|
rs1443234544
|
0.00001
|
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
|
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys)
|
rs769215192
|
0.00001
|
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
|
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)
|
rs767371843
|
0.00001
|
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
|
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)
|
rs63749907
|
0.00001
|
|
NM_000251.3(MSH2):c.395A>T (p.Glu132Val)
|
rs1486720679
|
0.00001
|
|
NM_000251.3(MSH2):c.422T>C (p.Met141Thr)
|
rs768313658
|
0.00001
|
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
|
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)
|
rs773125415
|
0.00001
|
|
NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)
|
rs1183892581
|
0.00001
|
|
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)
|
rs760851623
|
0.00001
|
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
|
NM_000251.3(MSH2):c.458C>T (p.Ser153Phe)
|
rs766349734
|
0.00001
|
|
NM_000251.3(MSH2):c.463G>A (p.Val155Ile)
|
rs1372639847
|
0.00001
|
|
NM_000251.3(MSH2):c.476G>T (p.Arg159Ile)
|
rs786202921
|
0.00001
|
|
NM_000251.3(MSH2):c.49G>A (p.Val17Ile)
|
rs63750966
|
0.00001
|
|
NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)
|
rs1114167865
|
0.00001
|
|
NM_000251.3(MSH2):c.515A>G (p.Lys172Arg)
|
rs1260033060
|
0.00001
|
|
NM_000251.3(MSH2):c.517C>G (p.Leu173Val)
|
rs1176822890
|
0.00001
|
|
NM_000251.3(MSH2):c.527G>T (p.Cys176Phe)
|
rs1553350829
|
0.00001
|
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
|
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe)
|
rs878853819
|
0.00001
|
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
|
NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)
|
rs778573140
|
0.00001
|
|
NM_000251.3(MSH2):c.598G>A (p.Val200Ile)
|
rs1558459684
|
0.00001
|
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
|
NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)
|
rs1060502002
|
0.00001
|
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
|
NM_000251.3(MSH2):c.611G>A (p.Gly204Glu)
|
rs770787472
|
0.00001
|
|
NM_000251.3(MSH2):c.613G>C (p.Glu205Gln)
|
rs63749984
|
0.00001
|
|
NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)
|
rs730881760
|
0.00001
|
|
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)
|
rs763298811
|
0.00001
|
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
|
NM_000251.3(MSH2):c.669G>A (p.Leu223=)
|
rs751195930
|
0.00001
|
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
|
NM_000251.3(MSH2):c.709A>G (p.Ile237Val)
|
rs63751307
|
0.00001
|
|
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
|
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)
|
rs138857091
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.72G>C (p.Gln24His)
|
rs1064794928
|
0.00001
|
|
NM_000251.3(MSH2):c.735G>T (p.Leu245Phe)
|
rs864622271
|
0.00001
|
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
|
NM_000251.3(MSH2):c.749G>A (p.Gly250Glu)
|
rs730881779
|
0.00001
|
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
|
NM_000251.3(MSH2):c.759G>A (p.Met253Ile)
|
rs1060502021
|
0.00001
|
|
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)
|
rs761529282
|
0.00001
|
|
NM_000251.3(MSH2):c.764G>A (p.Ser255Asn)
|
rs763184168
|
0.00001
|
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
|
NM_000251.3(MSH2):c.782T>C (p.Met261Thr)
|
rs63749969
|
0.00001
|
|
NM_000251.3(MSH2):c.791A>G (p.Gln264Arg)
|
rs730881780
|
0.00001
|
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
|
NM_000251.3(MSH2):c.812C>A (p.Ser271Tyr)
|
rs139891783
|
0.00001
|
|
NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)
|
rs1558463956
|
0.00001
|
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
|
NM_000251.3(MSH2):c.824A>C (p.Lys275Thr)
|
rs1553352435
|
0.00001
|
|
NM_000251.3(MSH2):c.854A>G (p.Asn285Ser)
|
rs1060502031
|
0.00001
|
|
NM_000251.3(MSH2):c.864G>C (p.Gln288His)
|
rs1672951524
|
0.00001
|
|
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)
|
rs1296650088
|
0.00001
|
|
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser)
|
rs63749914
|
0.00001
|
|
NM_000251.3(MSH2):c.934C>G (p.Leu312Val)
|
rs756398636
|
0.00001
|
|
NM_000251.3(MSH2):c.956A>T (p.Asp319Val)
|
rs786204185
|
0.00001
|
|
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)
|
rs1233448699
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
|
NM_000251.3(MSH2):c.98C>T (p.Thr33Ile)
|
rs769631146
|
0.00001
|
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
|
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)
|
rs962982192
|
0.00001
|
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000321.3(RB1):c.*1544T>C
|
rs886050285
|
0.00001
|
|
NM_000321.3(RB1):c.*573A>G
|
rs1450335586
|
0.00001
|
|
NM_000321.3(RB1):c.-149G>T
|
rs1014776340
|
0.00001
|
|
NM_000321.3(RB1):c.-81G>A
|
rs886050267
|
0.00001
|
|
NM_000321.3(RB1):c.1017T>A (p.His339Gln)
|
rs1161993720
|
0.00001
|
|
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser)
|
rs751263356
|
0.00001
|
|
NM_000321.3(RB1):c.104A>T (p.Gln35Leu)
|
rs1480581747
|
0.00001
|
|
NM_000321.3(RB1):c.1067C>T (p.Thr356Ile)
|
rs774525913
|
0.00001
|
|
NM_000321.3(RB1):c.1069C>T (p.Pro357Ser)
|
rs568421803
|
0.00001
|
|
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
|
NM_000321.3(RB1):c.1085T>C (p.Leu362Pro)
|
rs1566194740
|
0.00001
|
|
NM_000321.3(RB1):c.1093G>A (p.Glu365Lys)
|
rs1270702085
|
0.00001
|
|
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp)
|
rs750094760
|
0.00001
|
|
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser)
|
rs908738769
|
0.00001
|
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
|
NM_000321.3(RB1):c.1144A>G (p.Ile382Val)
|
rs1286489738
|
0.00001
|
|
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)
|
rs373623059
|
0.00001
|
|
NM_000321.3(RB1):c.116C>T (p.Pro39Leu)
|
rs1180053508
|
0.00001
|
|
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)
|
rs181988132
|
0.00001
|
|
NM_000321.3(RB1):c.1180G>A (p.Asp394Asn)
|
rs753350745
|
0.00001
|
|
NM_000321.3(RB1):c.11A>G (p.Lys4Arg)
|
rs1371181708
|
0.00001
|
|
NM_000321.3(RB1):c.1206C>T (p.Ser402=)
|
rs752679968
|
0.00001
|
|
NM_000321.3(RB1):c.1215+10A>G
|
rs746116477
|
0.00001
|
|
NM_000321.3(RB1):c.1215+3A>G
|
rs1254191370
|
0.00001
|
|
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile)
|
rs1462238834
|
0.00001
|
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
|
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala)
|
rs1370947947
|
0.00001
|
|
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln)
|
rs747509282
|
0.00001
|
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
|
NM_000321.3(RB1):c.1361A>G (p.Tyr454Cys)
|
rs1281607292
|
0.00001
|
|
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)
|
rs769425649
|
0.00001
|
|
NM_000321.3(RB1):c.1378A>G (p.Met460Val)
|
rs1258210045
|
0.00001
|
|
NM_000321.3(RB1):c.1389A>G (p.Ser463=)
|
rs1486168292
|
0.00001
|
|
NM_000321.3(RB1):c.1400G>A (p.Arg467Gln)
|
rs1948519905
|
0.00001
|
|
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe)
|
rs1243796201
|
0.00001
|
|
NM_000321.3(RB1):c.1451T>C (p.Met484Thr)
|
rs1948522862
|
0.00001
|
|
NM_000321.3(RB1):c.1463C>T (p.Ala488Val)
|
rs780248969
|
0.00001
|
|
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser)
|
rs1366675428
|
0.00001
|
|
NM_000321.3(RB1):c.1489A>G (p.Thr497Ala)
|
rs776531398
|
0.00001
|
|
NM_000321.3(RB1):c.148G>C (p.Glu50Gln)
|
rs1060503085
|
0.00001
|
|
NM_000321.3(RB1):c.14C>T (p.Thr5Ile)
|
rs1265159988
|
0.00001
|
|
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile)
|
rs752334972
|
0.00001
|
|
NM_000321.3(RB1):c.150A>T (p.Glu50Asp)
|
rs1330924197
|
0.00001
|
|
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp)
|
rs371031574
|
0.00001
|
|
NM_000321.3(RB1):c.161A>G (p.Glu54Gly)
|
rs1952089249
|
0.00001
|
|
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln)
|
rs146236493
|
0.00001
|
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
|
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe)
|
rs761257231
|
0.00001
|
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
|
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)
|
rs751560923
|
0.00001
|
|
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)
|
rs375645171
|
0.00001
|
|
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)
|
rs1343212063
|
0.00001
|
|
NM_000321.3(RB1):c.175G>C (p.Ala59Pro)
|
rs184754468
|
0.00001
|
|
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser)
|
rs138033832
|
0.00001
|
|
NM_000321.3(RB1):c.1780C>T (p.Leu594Phe)
|
rs1361971661
|
0.00001
|
|
NM_000321.3(RB1):c.1815G>A (p.Met605Ile)
|
rs1472724809
|
0.00001
|
|
NM_000321.3(RB1):c.1840A>G (p.Lys614Glu)
|
rs751060248
|
0.00001
|
|
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys)
|
rs751799266
|
0.00001
|
|
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln)
|
rs750578651
|
0.00001
|
|
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)
|
rs1007286459
|
0.00001
|
|
NM_000321.3(RB1):c.1997G>T (p.Cys666Phe)
|
rs1160394123
|
0.00001
|
|
NM_000321.3(RB1):c.2029G>A (p.Glu677Lys)
|
rs1060503067
|
0.00001
|
|
NM_000321.3(RB1):c.2038A>G (p.Ile680Val)
|
rs1422900655
|
0.00001
|
|
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg)
|
rs1447082021
|
0.00001
|
|
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly)
|
rs775195256
|
0.00001
|
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
|
NM_000321.3(RB1):c.20G>A (p.Arg7Gln)
|
rs564059250
|
0.00001
|
|
NM_000321.3(RB1):c.2107-15C>A
|
rs762781001
|
0.00001
|
|
NM_000321.3(RB1):c.213A>T (p.Arg71Ser)
|
rs1326990660
|
0.00001
|
|
NM_000321.3(RB1):c.215A>G (p.Glu72Gly)
|
rs753307498
|
0.00001
|
|
NM_000321.3(RB1):c.2186A>C (p.Lys729Thr)
|
rs150600740
|
0.00001
|
|
NM_000321.3(RB1):c.2198A>T (p.His733Leu)
|
rs778503152
|
0.00001
|
|
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys)
|
rs121913297
|
0.00001
|
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
|
NM_000321.3(RB1):c.2290C>G (p.Leu764Val)
|
rs138637932
|
0.00001
|
|
NM_000321.3(RB1):c.2310G>C (p.Gln770His)
|
rs777040395
|
0.00001
|
|
NM_000321.3(RB1):c.2318C>T (p.Ser773Phe)
|
rs267603841
|
0.00001
|
|
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala)
|
rs878853950
|
0.00001
|
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
|
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)
|
rs1240896329
|
0.00001
|
|
NM_000321.3(RB1):c.238A>G (p.Lys80Glu)
|
rs751870680
|
0.00001
|
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
|
NM_000321.3(RB1):c.2418T>G (p.Ile806Met)
|
rs1368593116
|
0.00001
|
|
NM_000321.3(RB1):c.2521-7T>A
|
rs371150038
|
0.00001
|
|
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg)
|
rs1295589257
|
0.00001
|
|
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu)
|
rs1566240957
|
0.00001
|
|
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly)
|
rs1032510984
|
0.00001
|
|
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln)
|
rs757818801
|
0.00001
|
|
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr)
|
rs764140783
|
0.00001
|
|
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala)
|
rs1259535894
|
0.00001
|
|
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr)
|
rs752897010
|
0.00001
|
|
NM_000321.3(RB1):c.2656G>A (p.Asp886Asn)
|
rs1460190600
|
0.00001
|
|
NM_000321.3(RB1):c.2694G>T (p.Gln898His)
|
rs757275103
|
0.00001
|
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
|
NM_000321.3(RB1):c.2705C>A (p.Ala902Glu)
|
rs781740936
|
0.00001
|
|
NM_000321.3(RB1):c.2774A>G (p.Lys925Arg)
|
rs750946437
|
0.00001
|
|
NM_000321.3(RB1):c.299G>T (p.Gly100Val)
|
rs886050268
|
0.00001
|
|
NM_000321.3(RB1):c.34A>T (p.Thr12Ser)
|
rs1566174063
|
0.00001
|
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
|
NM_000321.3(RB1):c.356A>C (p.Glu119Ala)
|
rs1347755761
|
0.00001
|
|
NM_000321.3(RB1):c.364A>G (p.Lys122Glu)
|
rs1301539544
|
0.00001
|
|
NM_000321.3(RB1):c.370A>G (p.Ile124Val)
|
rs769858139
|
0.00001
|
|
NM_000321.3(RB1):c.393C>G (p.Phe131Leu)
|
rs749495284
|
0.00001
|
|
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr)
|
rs762380973
|
0.00001
|
|
NM_000321.3(RB1):c.424A>G (p.Thr142Ala)
|
rs1307149332
|
0.00001
|
|
NM_000321.3(RB1):c.501-3C>T
|
rs773662417
|
0.00001
|
|
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr)
|
rs1251503080
|
0.00001
|
|
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)
|
rs1566187849
|
0.00001
|
|
NM_000321.3(RB1):c.547A>G (p.Thr183Ala)
|
rs1593437952
|
0.00001
|
|
NM_000321.3(RB1):c.560C>T (p.Ser187Phe)
|
rs770277291
|
0.00001
|
|
NM_000321.3(RB1):c.613G>A (p.Val205Ile)
|
rs770100636
|
0.00001
|
|
NM_000321.3(RB1):c.630T>A (p.Asp210Glu)
|
rs1952625286
|
0.00001
|
|
NM_000321.3(RB1):c.634C>A (p.Leu212Met)
|
rs147085238
|
0.00001
|
|
NM_000321.3(RB1):c.63G>A (p.Pro21=)
|
rs1313614748
|
0.00001
|
|
NM_000321.3(RB1):c.643T>C (p.Ser215Pro)
|
rs748923368
|
0.00001
|
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
|
NM_000321.3(RB1):c.697A>G (p.Met233Val)
|
rs770860809
|
0.00001
|
|
NM_000321.3(RB1):c.71C>T (p.Pro24Leu)
|
rs1285455572
|
0.00001
|
|
NM_000321.3(RB1):c.73C>T (p.Pro25Ser)
|
rs1566174119
|
0.00001
|
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
0.00001
|
|
NM_000321.3(RB1):c.763C>G (p.Arg255Gly)
|
rs587778842
|
0.00001
|
|
NM_000321.3(RB1):c.782C>T (p.Ala261Val)
|
rs776307088
|
0.00001
|
|
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
|
NM_000321.3(RB1):c.785G>A (p.Arg262Gln)
|
rs752342013
|
0.00001
|
|
NM_000321.3(RB1):c.861+6T>C
|
rs373380507
|
0.00001
|
|
NM_000321.3(RB1):c.86C>T (p.Pro29Leu)
|
rs938094455
|
0.00001
|
|
NM_000321.3(RB1):c.891A>G (p.Ile297Met)
|
rs1952680086
|
0.00001
|
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
|
NM_000321.3(RB1):c.905C>T (p.Ser302Phe)
|
rs1208736713
|
0.00001
|
|
NM_000321.3(RB1):c.958C>G (p.Arg320Gly)
|
rs121913300
|
0.00001
|
|
NM_000321.3(RB1):c.965A>G (p.Glu322Gly)
|
rs142620145
|
0.00001
|
|
NM_000321.3(RB1):c.98C>G (p.Pro33Arg)
|
rs1201977804
|
0.00001
|
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)
|
rs587782138
|
0.00001
|
|
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)
|
rs1060499968
|
0.00001
|
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
|
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)
|
rs775595174
|
0.00001
|
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
|
NM_000465.4(BARD1):c.-26G>A
|
rs1245329214
|
0.00001
|
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
|
NM_000465.4(BARD1):c.1009A>G (p.Arg337Gly)
|
rs1016845338
|
0.00001
|
|
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn)
|
rs587781313
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn)
|
rs760950550
|
0.00001
|
|
NM_000465.4(BARD1):c.1030A>G (p.Ser344Gly)
|
rs1278959534
|
0.00001
|
|
NM_000465.4(BARD1):c.1032T>A (p.Ser344Arg)
|
rs1060501293
|
0.00001
|
|
NM_000465.4(BARD1):c.1039T>C (p.Phe347Leu)
|
rs1694968070
|
0.00001
|
|
NM_000465.4(BARD1):c.1042G>A (p.Val348Ile)
|
rs1315898207
|
0.00001
|
|
NM_000465.4(BARD1):c.1046A>G (p.Lys349Arg)
|
rs786202282
|
0.00001
|
|
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)
|
rs773918507
|
0.00001
|
|
NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile)
|
rs577834428
|
0.00001
|
|
NM_000465.4(BARD1):c.1072C>A (p.Pro358Thr)
|
rs769594971
|
0.00001
|
|
NM_000465.4(BARD1):c.1076T>C (p.Leu359Ser)
|
rs745669714
|
0.00001
|
|
NM_000465.4(BARD1):c.1083A>C (p.Glu361Asp)
|
rs778116528
|
0.00001
|
|
NM_000465.4(BARD1):c.1097C>T (p.Pro366Leu)
|
rs1553622247
|
0.00001
|
|
NM_000465.4(BARD1):c.1109G>A (p.Arg370His)
|
rs730881416
|
0.00001
|
|
NM_000465.4(BARD1):c.110G>C (p.Ser37Thr)
|
rs1283611933
|
0.00001
|
|
NM_000465.4(BARD1):c.1138A>G (p.Asn380Asp)
|
rs876658971
|
0.00001
|
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
|
NM_000465.4(BARD1):c.115G>A (p.Ala39Thr)
|
rs753630023
|
0.00001
|
|
NM_000465.4(BARD1):c.1160T>G (p.Phe387Cys)
|
rs776631398
|
0.00001
|
|
NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)
|
rs553790960
|
0.00001
|
|
NM_000465.4(BARD1):c.1180A>G (p.Thr394Ala)
|
rs587782548
|
0.00001
|
|
NM_000465.4(BARD1):c.1182A>G (p.Thr394=)
|
rs780580712
|
0.00001
|
|
NM_000465.4(BARD1):c.1190C>A (p.Ser397Tyr)
|
rs375078644
|
0.00001
|
|
NM_000465.4(BARD1):c.1192A>G (p.Thr398Ala)
|
rs1297661047
|
0.00001
|
|
NM_000465.4(BARD1):c.1213A>G (p.Arg405Gly)
|
rs876659886
|
0.00001
|
|
NM_000465.4(BARD1):c.121C>G (p.Leu41Val)
|
rs751665426
|
0.00001
|
|
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys)
|
rs786202226
|
0.00001
|
|
NM_000465.4(BARD1):c.1235C>T (p.Ser412Leu)
|
rs876660778
|
0.00001
|
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
|
NM_000465.4(BARD1):c.1244A>C (p.Lys415Thr)
|
rs879254118
|
0.00001
|
|
NM_000465.4(BARD1):c.1262C>G (p.Ala421Gly)
|
rs766209380
|
0.00001
|
|
NM_000465.4(BARD1):c.1265T>C (p.Val422Ala)
|
rs76824305
|
0.00001
|
|
NM_000465.4(BARD1):c.1276C>G (p.His426Asp)
|
rs786203499
|
0.00001
|
|
NM_000465.4(BARD1):c.1279_1281del (p.Arg427del)
|
rs1378231954
|
0.00001
|
|
NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser)
|
rs587780015
|
0.00001
|
|
NM_000465.4(BARD1):c.1298A>G (p.His433Arg)
|
rs587781970
|
0.00001
|
|
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
|
NM_000465.4(BARD1):c.1307C>G (p.Ser436Cys)
|
rs752234478
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-2A>G
|
rs1316885634
|
0.00001
|
|
NM_000465.4(BARD1):c.1319A>T (p.Asp440Val)
|
rs753446928
|
0.00001
|
|
NM_000465.4(BARD1):c.1322T>C (p.Ile441Thr)
|
rs876660006
|
0.00001
|
|
NM_000465.4(BARD1):c.1331T>G (p.Val444Gly)
|
rs1326325978
|
0.00001
|
|
NM_000465.4(BARD1):c.1340T>C (p.Leu447Pro)
|
rs765495837
|
0.00001
|
|
NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg)
|
rs916069875
|
0.00001
|
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
|
NM_000465.4(BARD1):c.1395+4G>A
|
rs1025329798
|
0.00001
|
|
NM_000465.4(BARD1):c.1397A>G (p.His466Arg)
|
rs730881418
|
0.00001
|
|
NM_000465.4(BARD1):c.1418A>C (p.His473Pro)
|
rs1176328026
|
0.00001
|
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
|
NM_000465.4(BARD1):c.1450A>G (p.Lys484Glu)
|
rs1694273552
|
0.00001
|
|
NM_000465.4(BARD1):c.1462A>G (p.Asn488Asp)
|
rs876659573
|
0.00001
|
|
NM_000465.4(BARD1):c.1471G>A (p.Gly491Arg)
|
rs587782003
|
0.00001
|
|
NM_000465.4(BARD1):c.1498G>A (p.Asp500Asn)
|
rs779468443
|
0.00001
|
|
NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg)
|
rs775002804
|
0.00001
|
|
NM_000465.4(BARD1):c.152C>T (p.Ser51Leu)
|
rs766788652
|
0.00001
|
|
NM_000465.4(BARD1):c.1535T>C (p.Leu512Pro)
|
rs786201769
|
0.00001
|
|
NM_000465.4(BARD1):c.1540C>G (p.Leu514Val)
|
rs587780016
|
0.00001
|
|
NM_000465.4(BARD1):c.1543T>C (p.Ser515Pro)
|
rs876659146
|
0.00001
|
|
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys)
|
rs746878509
|
0.00001
|
|
NM_000465.4(BARD1):c.155G>A (p.Arg52His)
|
rs574257684
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+3A>G
|
rs1280734884
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+4A>G
|
rs781268123
|
0.00001
|
|
NM_000465.4(BARD1):c.1571A>G (p.Asn524Ser)
|
rs587781887
|
0.00001
|
|
NM_000465.4(BARD1):c.157T>A (p.Cys53Ser)
|
rs1354779388
|
0.00001
|
|
NM_000465.4(BARD1):c.1583T>C (p.Leu528Pro)
|
rs1301755370
|
0.00001
|
|
NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn)
|
rs757281184
|
0.00001
|
|
NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile)
|
rs374293292
|
0.00001
|
|
NM_000465.4(BARD1):c.1615A>G (p.Met539Val)
|
rs587782009
|
0.00001
|
|
NM_000465.4(BARD1):c.161C>G (p.Thr54Ser)
|
rs879253878
|
0.00001
|
|
NM_000465.4(BARD1):c.1672T>C (p.Ser558Pro)
|
rs587782122
|
0.00001
|
|
NM_000465.4(BARD1):c.1677+6T>A
|
rs1400074259
|
0.00001
|
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
|
NM_000465.4(BARD1):c.1721G>T (p.Gly574Val)
|
rs1218730514
|
0.00001
|
|
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)
|
rs774009993
|
0.00001
|
|
NM_000465.4(BARD1):c.1751T>C (p.Met584Thr)
|
rs1392588415
|
0.00001
|
|
NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile)
|
rs369756202
|
0.00001
|
|
NM_000465.4(BARD1):c.1761G>C (p.Glu587Asp)
|
rs1060501284
|
0.00001
|
|
NM_000465.4(BARD1):c.1765G>T (p.Ala589Ser)
|
rs547417612
|
0.00001
|
|
NM_000465.4(BARD1):c.1780G>T (p.Ala594Ser)
|
rs1036544558
|
0.00001
|
|
NM_000465.4(BARD1):c.1790A>G (p.Tyr597Cys)
|
rs757953605
|
0.00001
|
|
NM_000465.4(BARD1):c.1792A>G (p.Thr598Ala)
|
rs752628149
|
0.00001
|
|
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly)
|
rs767765131
|
0.00001
|
|
NM_000465.4(BARD1):c.1804A>T (p.Ser602Cys)
|
rs1437928909
|
0.00001
|
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
|
NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg)
|
rs764418221
|
0.00001
|
|
NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)
|
rs1475259063
|
0.00001
|
|
NM_000465.4(BARD1):c.185G>C (p.Cys62Ser)
|
rs768089548
|
0.00001
|
|
NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu)
|
rs587782252
|
0.00001
|
|
NM_000465.4(BARD1):c.1882T>C (p.Cys628Arg)
|
rs140642433
|
0.00001
|
|
NM_000465.4(BARD1):c.1883G>T (p.Cys628Phe)
|
rs1227794803
|
0.00001
|
|
NM_000465.4(BARD1):c.188T>C (p.Leu63Ser)
|
rs748828467
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-10T>G
|
rs768259863
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-12T>G
|
rs774178253
|
0.00001
|
|
NM_000465.4(BARD1):c.1917T>G (p.Cys639Trp)
|
rs1345080663
|
0.00001
|
|
NM_000465.4(BARD1):c.1922G>A (p.Arg641Gln)
|
rs752870879
|
0.00001
|
|
NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr)
|
rs1420797541
|
0.00001
|
|
NM_000465.4(BARD1):c.1940A>G (p.Gln647Arg)
|
rs786202232
|
0.00001
|
|
NM_000465.4(BARD1):c.1948A>C (p.Lys650Gln)
|
rs1283527672
|
0.00001
|
|
NM_000465.4(BARD1):c.1960C>T (p.Pro654Ser)
|
rs876658741
|
0.00001
|
|
NM_000465.4(BARD1):c.1963G>C (p.Glu655Gln)
|
rs786203772
|
0.00001
|
|
NM_000465.4(BARD1):c.1970C>A (p.Pro657Gln)
|
rs1559373931
|
0.00001
|
|
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly)
|
rs1064795138
|
0.00001
|
|
NM_000465.4(BARD1):c.19C>T (p.Pro7Ser)
|
rs1158534804
|
0.00001
|
|
NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu)
|
rs775039040
|
0.00001
|
|
NM_000465.4(BARD1):c.201G>C (p.Glu67Asp)
|
rs1385746925
|
0.00001
|
|
NM_000465.4(BARD1):c.2020G>A (p.Gly674Arg)
|
rs1328046615
|
0.00001
|
|
NM_000465.4(BARD1):c.2029T>C (p.Phe677Leu)
|
rs746790711
|
0.00001
|
|
NM_000465.4(BARD1):c.2033A>G (p.Tyr678Cys)
|
rs771766430
|
0.00001
|
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
|
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)
|
rs864622380
|
0.00001
|
|
NM_000465.4(BARD1):c.2063A>T (p.Lys688Met)
|
rs1692224981
|
0.00001
|
|
NM_000465.4(BARD1):c.2065G>A (p.Asp689Asn)
|
rs863224671
|
0.00001
|
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
|
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe)
|
rs1036838204
|
0.00001
|
|
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr)
|
rs587782555
|
0.00001
|
|
NM_000465.4(BARD1):c.2080C>T (p.Leu694Phe)
|
rs1553612199
|
0.00001
|
|
NM_000465.4(BARD1):c.2101C>G (p.Gln701Glu)
|
rs587782348
|
0.00001
|
|
NM_000465.4(BARD1):c.2105T>A (p.Ile702Asn)
|
rs752114855
|
0.00001
|
|
NM_000465.4(BARD1):c.2123A>G (p.Lys708Arg)
|
rs372160908
|
0.00001
|
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
|
NM_000465.4(BARD1):c.2131A>G (p.Ser711Gly)
|
rs564838936
|
0.00001
|
|
NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)
|
rs878854006
|
0.00001
|
|
NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser)
|
rs773166130
|
0.00001
|
|
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)
|
rs771852699
|
0.00001
|
|
NM_000465.4(BARD1):c.2167C>G (p.His723Asp)
|
rs1245669447
|
0.00001
|
|
NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu)
|
rs876660554
|
0.00001
|
|
NM_000465.4(BARD1):c.2207A>T (p.Tyr736Phe)
|
rs587780028
|
0.00001
|
|
NM_000465.4(BARD1):c.2209A>G (p.Ile737Val)
|
rs761655616
|
0.00001
|
|
NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)
|
rs876659765
|
0.00001
|
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
|
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)
|
rs139785364
|
0.00001
|
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00001
|
|
NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)
|
rs755369095
|
0.00001
|
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
|
NM_000465.4(BARD1):c.2324T>A (p.Leu775His)
|
rs907023461
|
0.00001
|
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
|
NM_000465.4(BARD1):c.250C>G (p.Pro84Ala)
|
rs376248938
|
0.00001
|
|
NM_000465.4(BARD1):c.274A>T (p.Ile92Leu)
|
rs750878896
|
0.00001
|
|
NM_000465.4(BARD1):c.28C>T (p.Arg10Trp)
|
rs1425810692
|
0.00001
|
|
NM_000465.4(BARD1):c.292A>G (p.Asn98Asp)
|
rs1444375563
|
0.00001
|
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
|
NM_000465.4(BARD1):c.304G>A (p.Asp102Asn)
|
rs140254589
|
0.00001
|
|
NM_000465.4(BARD1):c.325A>C (p.Ser109Arg)
|
rs764746353
|
0.00001
|
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
|
NM_000465.4(BARD1):c.347A>G (p.His116Arg)
|
rs773211367
|
0.00001
|
|
NM_000465.4(BARD1):c.350A>G (p.Asp117Gly)
|
rs876658241
|
0.00001
|
|
NM_000465.4(BARD1):c.364+3A>G
|
rs1695552690
|
0.00001
|
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
|
NM_000465.4(BARD1):c.388A>G (p.Lys130Glu)
|
rs776760754
|
0.00001
|
|
NM_000465.4(BARD1):c.38G>A (p.Arg13Lys)
|
rs587781713
|
0.00001
|
|
NM_000465.4(BARD1):c.392G>A (p.Ser131Asn)
|
rs1163172447
|
0.00001
|
|
NM_000465.4(BARD1):c.407C>T (p.Ala136Val)
|
rs1553622698
|
0.00001
|
|
NM_000465.4(BARD1):c.415A>G (p.Lys139Glu)
|
rs587782395
|
0.00001
|
|
NM_000465.4(BARD1):c.420G>T (p.Lys140Asn)
|
rs758749603
|
0.00001
|
|
NM_000465.4(BARD1):c.427A>G (p.Ile143Val)
|
rs1060501289
|
0.00001
|
|
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln)
|
rs730881412
|
0.00001
|
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
|
NM_000465.4(BARD1):c.473T>A (p.Val158Glu)
|
rs730881414
|
0.00001
|
|
NM_000465.4(BARD1):c.47C>T (p.Ser16Phe)
|
rs1326565823
|
0.00001
|
|
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu)
|
rs750350372
|
0.00001
|
|
NM_000465.4(BARD1):c.493A>G (p.Thr165Ala)
|
rs876658147
|
0.00001
|
|
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg)
|
rs746495820
|
0.00001
|
|
NM_000465.4(BARD1):c.500C>A (p.Pro167His)
|
rs1695024043
|
0.00001
|
|
NM_000465.4(BARD1):c.505A>C (p.Ile169Leu)
|
rs765494437
|
0.00001
|
|
NM_000465.4(BARD1):c.514G>A (p.Asp172Asn)
|
rs759732945
|
0.00001
|
|
NM_000465.4(BARD1):c.520A>C (p.Ser174Arg)
|
rs1060501295
|
0.00001
|
|
NM_000465.4(BARD1):c.532G>A (p.Asp178Asn)
|
rs1300620941
|
0.00001
|
|
NM_000465.4(BARD1):c.542A>G (p.Glu181Gly)
|
rs878854013
|
0.00001
|
|
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys)
|
rs878854014
|
0.00001
|
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
|
NM_000465.4(BARD1):c.554C>T (p.Pro185Leu)
|
rs927697548
|
0.00001
|
|
NM_000465.4(BARD1):c.571G>A (p.Val191Ile)
|
rs200781791
|
0.00001
|
|
NM_000465.4(BARD1):c.580A>T (p.Arg194Trp)
|
rs587782806
|
0.00001
|
|
NM_000465.4(BARD1):c.583G>T (p.Ala195Ser)
|
rs755641562
|
0.00001
|
|
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu)
|
rs376259263
|
0.00001
|
|
NM_000465.4(BARD1):c.592G>T (p.Ala198Ser)
|
rs748834249
|
0.00001
|
|
NM_000465.4(BARD1):c.593C>T (p.Ala198Val)
|
rs751357679
|
0.00001
|
|
NM_000465.4(BARD1):c.599C>T (p.Ala200Val)
|
rs1254403542
|
0.00001
|
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
|
NM_000465.4(BARD1):c.628A>G (p.Thr210Ala)
|
rs1415703291
|
0.00001
|
|
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser)
|
rs762171436
|
0.00001
|
|
NM_000465.4(BARD1):c.635C>G (p.Ala212Gly)
|
rs1400642945
|
0.00001
|
|
NM_000465.4(BARD1):c.647A>G (p.Gln216Arg)
|
rs1178751431
|
0.00001
|
|
NM_000465.4(BARD1):c.65C>T (p.Ser22Phe)
|
rs876659724
|
0.00001
|
|
NM_000465.4(BARD1):c.714G>C (p.Lys238Asn)
|
rs1559425247
|
0.00001
|
|
NM_000465.4(BARD1):c.725T>A (p.Phe242Tyr)
|
rs1354702896
|
0.00001
|
|
NM_000465.4(BARD1):c.728G>T (p.Cys243Phe)
|
rs767432527
|
0.00001
|
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
|
NM_000465.4(BARD1):c.746T>C (p.Ile249Thr)
|
rs780899747
|
0.00001
|
|
NM_000465.4(BARD1):c.808G>C (p.Glu270Gln)
|
rs1060501288
|
0.00001
|
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
0.00001
|
|
NM_000465.4(BARD1):c.83C>T (p.Pro28Leu)
|
rs1696463841
|
0.00001
|
|
NM_000465.4(BARD1):c.863C>T (p.Ser288Phe)
|
rs878854016
|
0.00001
|
|
NM_000465.4(BARD1):c.866C>T (p.Pro289Leu)
|
rs748019195
|
0.00001
|
|
NM_000465.4(BARD1):c.889G>A (p.Val297Ile)
|
rs754720101
|
0.00001
|
|
NM_000465.4(BARD1):c.899C>T (p.Pro300Leu)
|
rs961232989
|
0.00001
|
|
NM_000465.4(BARD1):c.913A>C (p.Lys305Gln)
|
rs786203258
|
0.00001
|
|
NM_000465.4(BARD1):c.922C>G (p.Leu308Val)
|
rs1407053508
|
0.00001
|
|
NM_000465.4(BARD1):c.926C>T (p.Thr309Ile)
|
rs1236791029
|
0.00001
|
|
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)
|
rs886041139
|
0.00001
|
|
NM_000465.4(BARD1):c.933G>T (p.Lys311Asn)
|
rs1060501297
|
0.00001
|
|
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu)
|
rs148760338
|
0.00001
|
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
|
NM_000465.4(BARD1):c.964C>T (p.Arg322Cys)
|
rs786203129
|
0.00001
|
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
|
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp)
|
rs587780038
|
0.00001
|
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
|
NM_000465.4(BARD1):c.992C>G (p.Pro331Arg)
|
rs1422030098
|
0.00001
|
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
|
NM_000535.7(PMS2):c.-13G>C
|
rs747488315
|
0.00001
|
|
NM_000535.7(PMS2):c.-6G>A
|
rs1260600705
|
0.00001
|
|
NM_000535.7(PMS2):c.1027A>G (p.Ile343Val)
|
rs1181117995
|
0.00001
|
|
NM_000535.7(PMS2):c.1057G>A (p.Ala353Thr)
|
rs587782826
|
0.00001
|
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
|
NM_000535.7(PMS2):c.1060G>T (p.Val354Phe)
|
rs750984324
|
0.00001
|
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
|
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn)
|
rs876661105
|
0.00001
|
|
NM_000535.7(PMS2):c.1084A>G (p.Met362Val)
|
rs876659797
|
0.00001
|
|
NM_000535.7(PMS2):c.108C>A (p.Ser36Arg)
|
rs1368578377
|
0.00001
|
|
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu)
|
rs370066853
|
0.00001
|
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
|
NM_000535.7(PMS2):c.1136A>T (p.Asp379Val)
|
rs536031711
|
0.00001
|
|
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly)
|
rs748971523
|
0.00001
|
|
NM_000535.7(PMS2):c.1144+3A>G
|
rs1430015665
|
0.00001
|
|
NM_000535.7(PMS2):c.1164T>A (p.His388Gln)
|
rs768480216
|
0.00001
|
|
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys)
|
rs1243063129
|
0.00001
|
|
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser)
|
rs745306528
|
0.00001
|
|
NM_000535.7(PMS2):c.1186A>G (p.Met396Val)
|
rs863224675
|
0.00001
|
|
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile)
|
rs573123885
|
0.00001
|
|
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu)
|
rs786202542
|
0.00001
|
|
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln)
|
rs1171400724
|
0.00001
|
|
NM_000535.7(PMS2):c.1201G>C (p.Asp401His)
|
rs1284362486
|
0.00001
|
|
NM_000535.7(PMS2):c.1223C>T (p.Thr408Ile)
|
rs1347299632
|
0.00001
|
|
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)
|
rs864622553
|
0.00001
|
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
|
NM_000535.7(PMS2):c.1250T>C (p.Ile417Thr)
|
rs1451465095
|
0.00001
|
|
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala)
|
rs1473720483
|
0.00001
|
|
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)
|
rs587782640
|
0.00001
|
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
|
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
|
rs587778619
|
0.00001
|
|
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
|
rs863224496
|
0.00001
|
|
NM_000535.7(PMS2):c.1300C>T (p.Pro434Ser)
|
rs1583321885
|
0.00001
|
|
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln)
|
rs786202669
|
0.00001
|
|
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile)
|
rs1187749040
|
0.00001
|
|
NM_000535.7(PMS2):c.1345C>G (p.Gln449Glu)
|
rs876661256
|
0.00001
|
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
|
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)
|
rs772659239
|
0.00001
|
|
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro)
|
rs1554297839
|
0.00001
|
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
|
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)
|
rs200116037
|
0.00001
|
|
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn)
|
rs1394213772
|
0.00001
|
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
|
NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)
|
rs786203427
|
0.00001
|
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
|
NM_000535.7(PMS2):c.1433G>A (p.Ser478Asn)
|
rs748643694
|
0.00001
|
|
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)
|
rs786203510
|
0.00001
|
|
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr)
|
rs752122569
|
0.00001
|
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
|
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn)
|
rs148642064
|
0.00001
|
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
|
NM_000535.7(PMS2):c.14A>T (p.Glu5Val)
|
rs876659080
|
0.00001
|
|
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr)
|
rs777920014
|
0.00001
|
|
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly)
|
rs63751028
|
0.00001
|
|
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn)
|
rs766256390
|
0.00001
|
|
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)
|
rs587782479
|
0.00001
|
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
|
NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)
|
rs1354150928
|
0.00001
|
|
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)
|
rs876658794
|
0.00001
|
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
|
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)
|
rs1425816147
|
0.00001
|
|
NM_000535.7(PMS2):c.163+3A>G
|
rs763369532
|
0.00001
|
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
0.00001
|
|
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)
|
rs374591423
|
0.00001
|
|
NM_000535.7(PMS2):c.1664A>T (p.Gln555Leu)
|
rs745836140
|
0.00001
|
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
|
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu)
|
rs764749700
|
0.00001
|
|
NM_000535.7(PMS2):c.1702C>G (p.Pro568Ala)
|
rs786204115
|
0.00001
|
|
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)
|
rs762151417
|
0.00001
|
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
0.00001
|
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
|
NM_000535.7(PMS2):c.1724A>G (p.Asn575Ser)
|
rs1424781748
|
0.00001
|
|
NM_000535.7(PMS2):c.1729A>C (p.Lys577Gln)
|
rs754339271
|
0.00001
|
|
NM_000535.7(PMS2):c.172C>T (p.Leu58Phe)
|
rs1465172427
|
0.00001
|
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
|
NM_000535.7(PMS2):c.1761T>G (p.Ser587Arg)
|
rs1311237867
|
0.00001
|
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
|
NM_000535.7(PMS2):c.1777A>C (p.Lys593Gln)
|
rs1212790997
|
0.00001
|
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
|
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)
|
rs1064793426
|
0.00001
|
|
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)
|
rs786204109
|
0.00001
|
|
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys)
|
rs773109986
|
0.00001
|
|
NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)
|
rs1583314932
|
0.00001
|
|
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu)
|
rs747785888
|
0.00001
|
|
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr)
|
rs1179605136
|
0.00001
|
|
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu)
|
rs370853512
|
0.00001
|
|
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr)
|
rs587779331
|
0.00001
|
|
NM_000535.7(PMS2):c.187G>A (p.Val63Met)
|
rs772216832
|
0.00001
|
|
NM_000535.7(PMS2):c.190G>A (p.Asp64Asn)
|
rs1583410797
|
0.00001
|
|
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)
|
rs886062400
|
0.00001
|
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
|
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)
|
rs786203379
|
0.00001
|
|
NM_000535.7(PMS2):c.192T>G (p.Asp64Glu)
|
rs1258284726
|
0.00001
|
|
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser)
|
rs267608166
|
0.00001
|
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
|
NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn)
|
rs1488971334
|
0.00001
|
|
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
|
NM_000535.7(PMS2):c.1967A>G (p.Glu656Gly)
|
rs1481127167
|
0.00001
|
|
NM_000535.7(PMS2):c.1985A>G (p.Asp662Gly)
|
rs1320079782
|
0.00001
|
|
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala)
|
rs1404270894
|
0.00001
|
|
NM_000535.7(PMS2):c.200A>G (p.Glu67Gly)
|
rs1785422471
|
0.00001
|
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
0.00001
|
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
|
NM_000535.7(PMS2):c.2063T>C (p.Ile688Thr)
|
rs755241829
|
0.00001
|
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
0.00001
|
|
NM_000535.7(PMS2):c.2092G>C (p.Val698Leu)
|
rs751551006
|
0.00001
|
|
NM_000535.7(PMS2):c.2098C>A (p.Gln700Lys)
|
rs1782451817
|
0.00001
|
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
|
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe)
|
rs139765160
|
0.00001
|
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
|
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
|
rs1284646352
|
0.00001
|
|
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu)
|
rs876658439
|
0.00001
|
|
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu)
|
rs786202202
|
0.00001
|
|
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala)
|
rs1060503115
|
0.00001
|
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
|
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr)
|
rs762206330
|
0.00001
|
|
NM_000535.7(PMS2):c.2275+5G>A
|
rs1583285249
|
0.00001
|
|
NM_000535.7(PMS2):c.2281G>C (p.Val761Leu)
|
rs201914670
|
0.00001
|
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
|
NM_000535.7(PMS2):c.23+6C>A
|
rs779104357
|
0.00001
|
|
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile)
|
rs876660374
|
0.00001
|
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
|
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly)
|
rs745500014
|
0.00001
|
|
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe)
|
rs191300933
|
0.00001
|
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
|
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn)
|
rs587781265
|
0.00001
|
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
|
NM_000535.7(PMS2):c.2389A>G (p.Met797Val)
|
rs1433888137
|
0.00001
|
|
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln)
|
rs587780055
|
0.00001
|
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
|
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg)
|
rs967502389
|
0.00001
|
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
|
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)
|
rs1306035279
|
0.00001
|
|
NM_000535.7(PMS2):c.2431G>A (p.Ala811Thr)
|
rs1169337656
|
0.00001
|
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
|
NM_000535.7(PMS2):c.2445+3A>T
|
rs765667554
|
0.00001
|
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
|
NM_000535.7(PMS2):c.2494A>G (p.Thr832Ala)
|
rs587780056
|
0.00001
|
|
NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys)
|
rs786201039
|
0.00001
|
|
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys)
|
rs755478893
|
0.00001
|
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
|
NM_000535.7(PMS2):c.277C>G (p.Gln93Glu)
|
rs1299810000
|
0.00001
|
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
0.00001
|
|
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro)
|
rs747771951
|
0.00001
|
|
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala)
|
rs878854050
|
0.00001
|
|
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu)
|
rs63751284
|
0.00001
|
|
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg)
|
rs750866397
|
0.00001
|
|
NM_000535.7(PMS2):c.328G>A (p.Ala110Thr)
|
rs767775907
|
0.00001
|
|
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr)
|
rs751799116
|
0.00001
|
|
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr)
|
rs1481967985
|
0.00001
|
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
|
NM_000535.7(PMS2):c.353+4A>G
|
rs760538709
|
0.00001
|
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
|
NM_000535.7(PMS2):c.392T>C (p.Val131Ala)
|
rs1785226633
|
0.00001
|
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
|
NM_000535.7(PMS2):c.418A>G (p.Asn140Asp)
|
rs35911407
|
0.00001
|
|
NM_000535.7(PMS2):c.434A>T (p.Gln145Leu)
|
rs1064795040
|
0.00001
|
|
NM_000535.7(PMS2):c.438A>T (p.Lys146Asn)
|
rs1396558771
|
0.00001
|
|
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala)
|
rs1060503120
|
0.00001
|
|
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu)
|
rs778119115
|
0.00001
|
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
|
NM_000535.7(PMS2):c.452G>A (p.Arg151His)
|
rs35629870
|
0.00001
|
|
NM_000535.7(PMS2):c.45C>G (p.Ile15Met)
|
rs876660499
|
0.00001
|
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
|
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile)
|
rs750354871
|
0.00001
|
|
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg)
|
rs1554303922
|
0.00001
|
|
NM_000535.7(PMS2):c.47A>G (p.Lys16Arg)
|
rs1554306581
|
0.00001
|
|
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)
|
rs587781541
|
0.00001
|
|
NM_000535.7(PMS2):c.502G>A (p.Val168Met)
|
rs762645507
|
0.00001
|
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
|
NM_000535.7(PMS2):c.523A>G (p.Arg175Gly)
|
rs1395650223
|
0.00001
|
|
NM_000535.7(PMS2):c.529A>G (p.Ile177Val)
|
rs1377323953
|
0.00001
|
|
NM_000535.7(PMS2):c.537+4C>T
|
rs864622272
|
0.00001
|
|
NM_000535.7(PMS2):c.541T>A (p.Tyr181Asn)
|
rs863224680
|
0.00001
|
|
NM_000535.7(PMS2):c.574T>G (p.Cys192Gly)
|
rs773752935
|
0.00001
|
|
NM_000535.7(PMS2):c.575G>A (p.Cys192Tyr)
|
rs772404945
|
0.00001
|
|
NM_000535.7(PMS2):c.577A>G (p.Ile193Val)
|
rs1784819145
|
0.00001
|
|
NM_000535.7(PMS2):c.596G>A (p.Arg199His)
|
rs876658387
|
0.00001
|
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
|
NM_000535.7(PMS2):c.610A>G (p.Asn204Asp)
|
rs746910555
|
0.00001
|
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
|
NM_000535.7(PMS2):c.615G>T (p.Gln205His)
|
rs752499497
|
0.00001
|
|
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
|
NM_000535.7(PMS2):c.650C>T (p.Thr217Ile)
|
rs774519794
|
0.00001
|
|
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
|
NM_000535.7(PMS2):c.67G>C (p.Val23Leu)
|
rs374830220
|
0.00001
|
|
NM_000535.7(PMS2):c.706-2dup
|
rs1490493105
|
0.00001
|
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
|
NM_000535.7(PMS2):c.733C>A (p.Leu245Met)
|
rs201375580
|
0.00001
|
|
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg)
|
rs1562670885
|
0.00001
|
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
|
NM_000535.7(PMS2):c.748T>C (p.Ser250Pro)
|
rs766690351
|
0.00001
|
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
|
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr)
|
rs1259974071
|
0.00001
|
|
NM_000535.7(PMS2):c.791A>G (p.His264Arg)
|
rs1060503129
|
0.00001
|
|
NM_000535.7(PMS2):c.793A>G (p.Asn265Asp)
|
rs1241742968
|
0.00001
|
|
NM_000535.7(PMS2):c.794A>G (p.Asn265Ser)
|
rs754164213
|
0.00001
|
|
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu)
|
rs876661158
|
0.00001
|
|
NM_000535.7(PMS2):c.803+4A>G
|
rs756312205
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
|
NM_000535.7(PMS2):c.826T>C (p.Cys276Arg)
|
rs1407229027
|
0.00001
|
|
NM_000535.7(PMS2):c.82T>C (p.Ser28Pro)
|
rs587781908
|
0.00001
|
|
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly)
|
rs1554300793
|
0.00001
|
|
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg)
|
rs876660871
|
0.00001
|
|
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser)
|
rs1274671450
|
0.00001
|
|
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)
|
rs563433235
|
0.00001
|
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
|
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln)
|
rs369763423
|
0.00001
|
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
|
NM_000535.7(PMS2):c.904G>T (p.Val302Phe)
|
rs755960629
|
0.00001
|
|
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr)
|
rs1562652063
|
0.00001
|
|
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)
|
rs750420143
|
0.00001
|
|
NM_000535.7(PMS2):c.932A>G (p.His311Arg)
|
rs1562651786
|
0.00001
|
|
NM_000535.7(PMS2):c.934A>G (p.Met312Val)
|
rs786202567
|
0.00001
|
|
NM_000535.7(PMS2):c.959T>A (p.Phe320Tyr)
|
rs1060503121
|
0.00001
|
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
|
NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)
|
rs1002380887
|
0.00001
|
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
|
NM_000546.6(TP53):c.-11G>A
|
rs773666793
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
|
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
|
rs534447939
|
0.00001
|
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
|
NM_000546.6(TP53):c.673-9A>G
|
rs754628512
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
|
NM_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
|
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=)
|
rs139019277
|
0.00001
|
|
NM_001001966.2(OR14A16):c.341C>T (p.Thr114Met)
|
rs193920961
|
0.00001
|
|
NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met)
|
rs193920780
|
0.00001
|
|
NM_001007228.2(SPOP):c.342C>G (p.Thr114=)
|
rs758435270
|
0.00001
|
|
NM_001007228.2(SPOP):c.353-17T>G
|
rs1378635756
|
0.00001
|
|
NM_001007228.2(SPOP):c.353-32C>T
|
rs772247872
|
0.00001
|
|
NM_001007228.2(SPOP):c.384C>T (p.Gly128=)
|
rs1464021387
|
0.00001
|
|
NM_001007525.5(NWD1):c.3668A>G (p.Asn1223Ser)
|
rs193920843
|
0.00001
|
|
NM_001007561.3(IRGQ):c.1795G>A (p.Gly599Ser)
|
rs193920821
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
|
NM_001025231.3(KPRP):c.743G>A (p.Arg248His)
|
rs193921023
|
0.00001
|
|
NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val)
|
rs193920773
|
0.00001
|
|
NM_001040108.2(MLH3):c.1015T>C (p.Cys339Arg)
|
rs1183691617
|
0.00001
|
|
NM_001040108.2(MLH3):c.1030G>A (p.Val344Met)
|
rs758958422
|
0.00001
|
|
NM_001040108.2(MLH3):c.1049A>C (p.Gln350Pro)
|
rs770643186
|
0.00001
|
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
|
NM_001040108.2(MLH3):c.1148C>T (p.Thr383Ile)
|
rs1476030225
|
0.00001
|
|
NM_001040108.2(MLH3):c.1166A>G (p.Asn389Ser)
|
rs769209737
|
0.00001
|
|
NM_001040108.2(MLH3):c.1170C>G (p.Phe390Leu)
|
rs1892424563
|
0.00001
|
|
NM_001040108.2(MLH3):c.1183A>G (p.Asn395Asp)
|
rs776076959
|
0.00001
|
|
NM_001040108.2(MLH3):c.119G>A (p.Cys40Tyr)
|
rs746448677
|
0.00001
|
|
NM_001040108.2(MLH3):c.121G>A (p.Val41Met)
|
rs770297216
|
0.00001
|
|
NM_001040108.2(MLH3):c.1300A>G (p.Asn434Asp)
|
rs886050777
|
0.00001
|
|
NM_001040108.2(MLH3):c.1306A>G (p.Asn436Asp)
|
rs754824568
|
0.00001
|
|
NM_001040108.2(MLH3):c.1353C>G (p.Ser451Arg)
|
rs1479636962
|
0.00001
|
|
NM_001040108.2(MLH3):c.1377A>C (p.Gln459His)
|
rs775675058
|
0.00001
|
|
NM_001040108.2(MLH3):c.1384G>A (p.Asp462Asn)
|
rs369525473
|
0.00001
|
|
NM_001040108.2(MLH3):c.1427T>C (p.Ile476Thr)
|
rs759144160
|
0.00001
|
|
NM_001040108.2(MLH3):c.1432G>A (p.Ala478Thr)
|
rs201071230
|
0.00001
|
|
NM_001040108.2(MLH3):c.1490T>C (p.Leu497Ser)
|
rs1009026527
|
0.00001
|
|
NM_001040108.2(MLH3):c.1519A>G (p.Met507Val)
|
rs371891794
|
0.00001
|
|
NM_001040108.2(MLH3):c.1560G>T (p.Glu520Asp)
|
rs886050776
|
0.00001
|
|
NM_001040108.2(MLH3):c.1615G>A (p.Ala539Thr)
|
rs369273391
|
0.00001
|
|
NM_001040108.2(MLH3):c.1652C>G (p.Pro551Arg)
|
rs1230335603
|
0.00001
|
|
NM_001040108.2(MLH3):c.1669G>A (p.Ala557Thr)
|
rs1347649293
|
0.00001
|
|
NM_001040108.2(MLH3):c.1672A>G (p.Thr558Ala)
|
rs1386400935
|
0.00001
|
|
NM_001040108.2(MLH3):c.1688A>G (p.Gln563Arg)
|
rs777324118
|
0.00001
|
|
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile)
|
rs1479954154
|
0.00001
|
|
NM_001040108.2(MLH3):c.1762A>G (p.Ser588Gly)
|
rs1892367899
|
0.00001
|
|
NM_001040108.2(MLH3):c.1770T>G (p.Cys590Trp)
|
rs769773711
|
0.00001
|
|
NM_001040108.2(MLH3):c.1798C>T (p.Arg600Ter)
|
rs927878214
|
0.00001
|
|
NM_001040108.2(MLH3):c.1955C>T (p.Thr652Ile)
|
rs769332499
|
0.00001
|
|
NM_001040108.2(MLH3):c.2021A>G (p.Asn674Ser)
|
rs765583244
|
0.00001
|
|
NM_001040108.2(MLH3):c.2026A>G (p.Arg676Gly)
|
rs766265028
|
0.00001
|
|
NM_001040108.2(MLH3):c.2108A>T (p.Lys703Ile)
|
rs1330464135
|
0.00001
|
|
NM_001040108.2(MLH3):c.2129T>C (p.Leu710Ser)
|
rs1238847805
|
0.00001
|
|
NM_001040108.2(MLH3):c.2138del (p.Thr713fs)
|
rs774749587
|
0.00001
|
|
NM_001040108.2(MLH3):c.2174A>G (p.Asn725Ser)
|
rs772538373
|
0.00001
|
|
NM_001040108.2(MLH3):c.2197T>G (p.Leu733Val)
|
rs566653064
|
0.00001
|
|
NM_001040108.2(MLH3):c.2218A>G (p.Ile740Val)
|
rs1892322400
|
0.00001
|
|
NM_001040108.2(MLH3):c.2225G>A (p.Arg742His)
|
rs375623365
|
0.00001
|
|
NM_001040108.2(MLH3):c.2278C>T (p.Gln760Ter)
|
rs199834594
|
0.00001
|
|
NM_001040108.2(MLH3):c.2289G>T (p.Lys763Asn)
|
rs1428119509
|
0.00001
|
|
NM_001040108.2(MLH3):c.2344C>G (p.Leu782Val)
|
rs772267556
|
0.00001
|
|
NM_001040108.2(MLH3):c.236A>G (p.His79Arg)
|
rs753528013
|
0.00001
|
|
NM_001040108.2(MLH3):c.2389C>T (p.Arg797Cys)
|
rs954634089
|
0.00001
|
|
NM_001040108.2(MLH3):c.2443G>C (p.Asp815His)
|
rs776060737
|
0.00001
|
|
NM_001040108.2(MLH3):c.244C>T (p.Gln82Ter)
|
rs372763743
|
0.00001
|
|
NM_001040108.2(MLH3):c.2483A>G (p.Glu828Gly)
|
rs754540902
|
0.00001
|
|
NM_001040108.2(MLH3):c.2491C>T (p.Pro831Ser)
|
rs1356949383
|
0.00001
|
|
NM_001040108.2(MLH3):c.2558T>C (p.Leu853Pro)
|
rs1181064566
|
0.00001
|
|
NM_001040108.2(MLH3):c.2592G>T (p.Leu864Phe)
|
rs1555345136
|
0.00001
|
|
NM_001040108.2(MLH3):c.2624C>G (p.Ser875Cys)
|
rs760079290
|
0.00001
|
|
NM_001040108.2(MLH3):c.2668A>G (p.Met890Val)
|
rs970455680
|
0.00001
|
|
NM_001040108.2(MLH3):c.2720A>T (p.Lys907Ile)
|
rs766847331
|
0.00001
|
|
NM_001040108.2(MLH3):c.2798G>A (p.Gly933Asp)
|
rs780801367
|
0.00001
|
|
NM_001040108.2(MLH3):c.2846A>C (p.Lys949Thr)
|
rs766819210
|
0.00001
|
|
NM_001040108.2(MLH3):c.2850T>G (p.Asn950Lys)
|
rs762525606
|
0.00001
|
|
NM_001040108.2(MLH3):c.2897C>T (p.Ser966Leu)
|
rs762868700
|
0.00001
|
|
NM_001040108.2(MLH3):c.2903C>T (p.Thr968Ile)
|
rs769450598
|
0.00001
|
|
NM_001040108.2(MLH3):c.2905C>T (p.Pro969Ser)
|
rs759555217
|
0.00001
|
|
NM_001040108.2(MLH3):c.2906C>A (p.Pro969His)
|
rs776422424
|
0.00001
|
|
NM_001040108.2(MLH3):c.2921A>G (p.Tyr974Cys)
|
rs143316827
|
0.00001
|
|
NM_001040108.2(MLH3):c.2954A>G (p.Asp985Gly)
|
rs761266398
|
0.00001
|
|
NM_001040108.2(MLH3):c.2959C>T (p.Leu987Phe)
|
rs933183454
|
0.00001
|
|
NM_001040108.2(MLH3):c.299T>C (p.Ile100Thr)
|
rs201611423
|
0.00001
|
|
NM_001040108.2(MLH3):c.3021T>G (p.Asn1007Lys)
|
rs1360064914
|
0.00001
|
|
NM_001040108.2(MLH3):c.3067A>G (p.Ser1023Gly)
|
rs778414174
|
0.00001
|
|
NM_001040108.2(MLH3):c.3134A>G (p.Gln1045Arg)
|
rs1421629305
|
0.00001
|
|
NM_001040108.2(MLH3):c.3190C>G (p.Leu1064Val)
|
rs774056235
|
0.00001
|
|
NM_001040108.2(MLH3):c.3206C>A (p.Ala1069Asp)
|
rs1892226746
|
0.00001
|
|
NM_001040108.2(MLH3):c.3243C>G (p.Asp1081Glu)
|
rs1471595778
|
0.00001
|
|
NM_001040108.2(MLH3):c.325A>G (p.Ile109Val)
|
rs1162492250
|
0.00001
|
|
NM_001040108.2(MLH3):c.3288G>C (p.Gln1096His)
|
rs749573128
|
0.00001
|
|
NM_001040108.2(MLH3):c.329C>T (p.Ser110Leu)
|
rs749113408
|
0.00001
|
|
NM_001040108.2(MLH3):c.3331C>T (p.Leu1111Phe)
|
rs761143890
|
0.00001
|
|
NM_001040108.2(MLH3):c.3335C>T (p.Pro1112Leu)
|
rs138166592
|
0.00001
|
|
NM_001040108.2(MLH3):c.3382A>G (p.Thr1128Ala)
|
rs898634762
|
0.00001
|
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
|
NM_001040108.2(MLH3):c.3386T>C (p.Val1129Ala)
|
rs202222467
|
0.00001
|
|
NM_001040108.2(MLH3):c.3475G>T (p.Asp1159Tyr)
|
rs755836944
|
0.00001
|
|
NM_001040108.2(MLH3):c.3500G>A (p.Ser1167Asn)
|
rs769350518
|
0.00001
|
|
NM_001040108.2(MLH3):c.3550G>A (p.Gly1184Arg)
|
rs747888681
|
0.00001
|
|
NM_001040108.2(MLH3):c.3571G>T (p.Val1191Phe)
|
rs1420496802
|
0.00001
|
|
NM_001040108.2(MLH3):c.3586G>T (p.Asp1196Tyr)
|
rs1891569856
|
0.00001
|
|
NM_001040108.2(MLH3):c.3601G>A (p.Ala1201Thr)
|
rs144875666
|
0.00001
|
|
NM_001040108.2(MLH3):c.3615C>G (p.Ser1205Arg)
|
rs1339332143
|
0.00001
|
|
NM_001040108.2(MLH3):c.3643+2T>C
|
rs1555343301
|
0.00001
|
|
NM_001040108.2(MLH3):c.3643+4A>C
|
rs373766646
|
0.00001
|
|
NM_001040108.2(MLH3):c.3658G>A (p.Val1220Met)
|
rs560775993
|
0.00001
|
|
NM_001040108.2(MLH3):c.365A>G (p.Lys122Arg)
|
rs762453215
|
0.00001
|
|
NM_001040108.2(MLH3):c.3680C>T (p.Ala1227Val)
|
rs770275491
|
0.00001
|
|
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His)
|
rs781739661
|
0.00001
|
|
NM_001040108.2(MLH3):c.3700G>A (p.Glu1234Lys)
|
rs1343728238
|
0.00001
|
|
NM_001040108.2(MLH3):c.3745T>A (p.Ser1249Thr)
|
rs748334436
|
0.00001
|
|
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp)
|
rs754799700
|
0.00001
|
|
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)
|
rs121908439
|
0.00001
|
|
NM_001040108.2(MLH3):c.3842A>G (p.Asn1281Ser)
|
rs1890990437
|
0.00001
|
|
NM_001040108.2(MLH3):c.3871T>C (p.Phe1291Leu)
|
rs1432917948
|
0.00001
|
|
NM_001040108.2(MLH3):c.3880A>G (p.Thr1294Ala)
|
rs1386608856
|
0.00001
|
|
NM_001040108.2(MLH3):c.3950G>A (p.Arg1317Gln)
|
rs1434472127
|
0.00001
|
|
NM_001040108.2(MLH3):c.3974A>G (p.Lys1325Arg)
|
rs781013323
|
0.00001
|
|
NM_001040108.2(MLH3):c.3979A>G (p.Ile1327Val)
|
rs761250969
|
0.00001
|
|
NM_001040108.2(MLH3):c.3997C>T (p.Arg1333Ter)
|
rs1255282773
|
0.00001
|
|
NM_001040108.2(MLH3):c.3G>A (p.Met1Ile)
|
rs1228816377
|
0.00001
|
|
NM_001040108.2(MLH3):c.4015C>T (p.Leu1339Phe)
|
rs201931206
|
0.00001
|
|
NM_001040108.2(MLH3):c.4027G>A (p.Gly1343Arg)
|
rs28757040
|
0.00001
|
|
NM_001040108.2(MLH3):c.4183C>G (p.His1395Asp)
|
rs762922917
|
0.00001
|
|
NM_001040108.2(MLH3):c.41G>A (p.Arg14His)
|
rs760072474
|
0.00001
|
|
NM_001040108.2(MLH3):c.4205C>T (p.Pro1402Leu)
|
rs776206735
|
0.00001
|
|
NM_001040108.2(MLH3):c.4253A>G (p.Asn1418Ser)
|
rs1258839619
|
0.00001
|
|
NM_001040108.2(MLH3):c.4262A>C (p.Lys1421Thr)
|
rs758153765
|
0.00001
|
|
NM_001040108.2(MLH3):c.4277C>T (p.Ala1426Val)
|
rs765909949
|
0.00001
|
|
NM_001040108.2(MLH3):c.4301A>G (p.Lys1434Arg)
|
rs772866061
|
0.00001
|
|
NM_001040108.2(MLH3):c.4319G>C (p.Arg1440Thr)
|
rs763372977
|
0.00001
|
|
NM_001040108.2(MLH3):c.4321C>T (p.Gln1441Ter)
|
rs148895027
|
0.00001
|
|
NM_001040108.2(MLH3):c.4360T>C (p.Ter1454Arg)
|
rs1216996898
|
0.00001
|
|
NM_001040108.2(MLH3):c.443T>G (p.Val148Gly)
|
rs1484161045
|
0.00001
|
|
NM_001040108.2(MLH3):c.481T>C (p.Cys161Arg)
|
rs368724856
|
0.00001
|
|
NM_001040108.2(MLH3):c.500A>G (p.Glu167Gly)
|
rs770833178
|
0.00001
|
|
NM_001040108.2(MLH3):c.503T>C (p.Phe168Ser)
|
rs780296518
|
0.00001
|
|
NM_001040108.2(MLH3):c.580T>G (p.Ser194Ala)
|
rs1379438361
|
0.00001
|
|
NM_001040108.2(MLH3):c.59G>A (p.Ser20Asn)
|
rs1269145505
|
0.00001
|
|
NM_001040108.2(MLH3):c.607A>G (p.Lys203Glu)
|
rs374988065
|
0.00001
|
|
NM_001040108.2(MLH3):c.61T>C (p.Ser21Pro)
|
rs1233254643
|
0.00001
|
|
NM_001040108.2(MLH3):c.623G>A (p.Cys208Tyr)
|
rs759892263
|
0.00001
|
|
NM_001040108.2(MLH3):c.632T>C (p.Phe211Ser)
|
rs1892472757
|
0.00001
|
|
NM_001040108.2(MLH3):c.6C>G (p.Ile2Met)
|
rs776416749
|
0.00001
|
|
NM_001040108.2(MLH3):c.755T>C (p.Leu252Ser)
|
rs1892461704
|
0.00001
|
|
NM_001040108.2(MLH3):c.820A>G (p.Lys274Glu)
|
rs1892456852
|
0.00001
|
|
NM_001040108.2(MLH3):c.883C>T (p.Arg295Trp)
|
rs761567123
|
0.00001
|
|
NM_001040108.2(MLH3):c.953A>T (p.Asp318Val)
|
rs1281805197
|
0.00001
|
|
NM_001042492.3(NF1):c.-148C>A
|
rs886052792
|
0.00001
|
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
0.00001
|
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)
|
rs151316420
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys)
|
rs767747402
|
0.00001
|
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
|
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)
|
rs763273196
|
0.00001
|
|
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)
|
rs750592289
|
0.00001
|
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
|
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp)
|
rs752114814
|
0.00001
|
|
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)
|
rs147487160
|
0.00001
|
|
NM_001085377.2(MCC):c.800G>A (p.Arg267His)
|
rs760873189
|
0.00001
|
|
NM_001127392.3(MYRF):c.1256C>T (p.Thr419Met)
|
rs193921094
|
0.00001
|
|
NM_001142556.2(HMMR):c.904+1G>T
|
rs374532508
|
0.00001
|
|
NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr)
|
rs968150359
|
0.00001
|
|
NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)
|
rs869025244
|
0.00001
|
|
NM_001166108.2(PALLD):c.*110G>C
|
rs577454433
|
0.00001
|
|
NM_001166108.2(PALLD):c.*127C>G
|
rs1306250811
|
0.00001
|
|
NM_001166108.2(PALLD):c.*135C>T
|
rs1314886283
|
0.00001
|
|
NM_001166108.2(PALLD):c.*1787T>C
|
rs886059215
|
0.00001
|
|
NM_001166108.2(PALLD):c.*185G>T
|
rs1032243256
|
0.00001
|
|
NM_001166108.2(PALLD):c.*2166A>G
|
rs886059220
|
0.00001
|
|
NM_001166108.2(PALLD):c.*33C>A
|
rs569054006
|
0.00001
|
|
NM_001166108.2(PALLD):c.*77C>T
|
rs1060502976
|
0.00001
|
|
NM_001166108.2(PALLD):c.-172C>A
|
rs777479051
|
0.00001
|
|
NM_001166108.2(PALLD):c.-178G>A
|
rs886059207
|
0.00001
|
|
NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg)
|
rs889514388
|
0.00001
|
|
NM_001166108.2(PALLD):c.1129A>G (p.Lys377Glu)
|
rs368684220
|
0.00001
|
|
NM_001166108.2(PALLD):c.1219A>T (p.Thr407Ser)
|
rs775730191
|
0.00001
|
|
NM_001166108.2(PALLD):c.1260+8T>C
|
rs887513464
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12534C>A
|
rs1162490423
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12544A>G
|
rs1244776142
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12579C>T
|
rs1009236606
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12597C>A
|
rs1221751077
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12671G>A
|
rs1048578217
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12687C>T
|
rs1201472346
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12697C>T
|
rs1752078843
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12699C>T
|
rs1752078030
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12702T>G
|
rs1560840468
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12708T>G
|
rs1281589180
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12709T>C
|
rs1043636321
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12813T>C
|
rs1290110172
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12837C>G
|
rs1581871066
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12850T>G
|
rs957770223
|
0.00001
|
|
NM_001166108.2(PALLD):c.1965-12931C>T
|
rs1452134652
|
0.00001
|
|
NM_001166108.2(PALLD):c.2008G>A (p.Asp670Asn)
|
rs767729090
|
0.00001
|
|
NM_001166108.2(PALLD):c.2012A>T (p.Glu671Val)
|
rs753140123
|
0.00001
|
|
NM_001166108.2(PALLD):c.2057G>A (p.Arg686Gln)
|
rs1031710807
|
0.00001
|
|
NM_001166108.2(PALLD):c.2099C>T (p.Pro700Leu)
|
rs1255873290
|
0.00001
|
|
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr)
|
rs775439441
|
0.00001
|
|
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu)
|
rs768485147
|
0.00001
|
|
NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr)
|
rs1553969553
|
0.00001
|
|
NM_001166108.2(PALLD):c.2199+4C>T
|
rs1060502973
|
0.00001
|
|
NM_001166108.2(PALLD):c.222C>T (p.Ser74=)
|
rs201038000
|
0.00001
|
|
NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys)
|
rs759161069
|
0.00001
|
|
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr)
|
rs763802548
|
0.00001
|
|
NM_001166108.2(PALLD):c.2333G>T (p.Gly778Val)
|
rs864622234
|
0.00001
|
|
NM_001166108.2(PALLD):c.2340A>C (p.Glu780Asp)
|
rs1431975703
|
0.00001
|
|
NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr)
|
rs759105985
|
0.00001
|
|
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn)
|
rs746329925
|
0.00001
|
|
NM_001166108.2(PALLD):c.2626C>T (p.Arg876Cys)
|
rs764242515
|
0.00001
|
|
NM_001166108.2(PALLD):c.2678G>A (p.Arg893Gln)
|
rs747702421
|
0.00001
|
|
NM_001166108.2(PALLD):c.2693C>T (p.Pro898Leu)
|
rs1216822754
|
0.00001
|
|
NM_001166108.2(PALLD):c.2704C>T (p.Pro902Ser)
|
rs114673468
|
0.00001
|
|
NM_001166108.2(PALLD):c.2722C>T (p.Arg908Cys)
|
rs369054918
|
0.00001
|
|
NM_001166108.2(PALLD):c.2740A>G (p.Ser914Gly)
|
rs950480850
|
0.00001
|
|
NM_001166108.2(PALLD):c.2761A>G (p.Ile921Val)
|
rs375970126
|
0.00001
|
|
NM_001166108.2(PALLD):c.2764C>G (p.Gln922Glu)
|
rs960430324
|
0.00001
|
|
NM_001166108.2(PALLD):c.2771G>A (p.Arg924Gln)
|
rs755336512
|
0.00001
|
|
NM_001166108.2(PALLD):c.2812A>T (p.Thr938Ser)
|
rs1171944020
|
0.00001
|
|
NM_001166108.2(PALLD):c.2858G>A (p.Gly953Glu)
|
rs753316618
|
0.00001
|
|
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile)
|
rs371498362
|
0.00001
|
|
NM_001166108.2(PALLD):c.2884C>G (p.Gln962Glu)
|
rs1271164196
|
0.00001
|
|
NM_001166108.2(PALLD):c.2899C>T (p.Pro967Ser)
|
rs1176026649
|
0.00001
|
|
NM_001166108.2(PALLD):c.2902G>A (p.Val968Ile)
|
rs551420048
|
0.00001
|
|
NM_001166108.2(PALLD):c.2906G>A (p.Arg969His)
|
rs769973229
|
0.00001
|
|
NM_001166108.2(PALLD):c.2914A>G (p.Ser972Gly)
|
rs774568391
|
0.00001
|
|
NM_001166108.2(PALLD):c.3076C>A (p.Pro1026Thr)
|
rs762353255
|
0.00001
|
|
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys)
|
rs548068667
|
0.00001
|
|
NM_001166108.2(PALLD):c.3146G>A (p.Arg1049His)
|
rs755223646
|
0.00001
|
|
NM_001166108.2(PALLD):c.3238A>C (p.Asn1080His)
|
rs771536528
|
0.00001
|
|
NM_001166108.2(PALLD):c.3254G>A (p.Cys1085Tyr)
|
rs771679229
|
0.00001
|
|
NM_001166108.2(PALLD):c.3282A>T (p.Glu1094Asp)
|
rs1447433925
|
0.00001
|
|
NM_001166108.2(PALLD):c.3352G>A (p.Val1118Ile)
|
rs781065277
|
0.00001
|
|
NM_001166108.2(PALLD):c.836G>C (p.Ser279Thr)
|
rs886059209
|
0.00001
|
|
NM_001191057.4(PDE1C):c.335G>A (p.Arg112Gln)
|
rs193921048
|
0.00001
|
|
NM_001198950.3(MYO16):c.3494T>G (p.Leu1165Trp)
|
rs193921058
|
0.00001
|
|
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)
|
rs760085736
|
0.00001
|
|
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)
|
rs1212671249
|
0.00001
|
|
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)
|
rs750610809
|
0.00001
|
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
|
NM_001282426.2(PIK3CG):c.1414C>T (p.Arg472Cys)
|
rs864622026
|
0.00001
|
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
|
NM_001368894.2(PAX6):c.*272T>G
|
rs934715799
|
0.00001
|
|
NM_001368894.2(PAX6):c.*626G>C
|
rs1250874661
|
0.00001
|
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
|
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)
|
rs1159095794
|
0.00001
|
|
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)
|
rs75572362
|
0.00001
|
|
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys)
|
rs193920932
|
0.00001
|
|
NM_001379270.1(CNGA1):c.1421G>A (p.Arg474His)
|
rs759487836
|
0.00001
|
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4193A>G (p.His1398Arg)
|
rs878854221
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)
|
rs779801126
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4233G>T (p.Gln1411His)
|
rs780721689
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4234C>T (p.Arg1412Cys)
|
rs747852149
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4235G>A (p.Arg1412His)
|
rs769555654
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4240C>T (p.Leu1414Phe)
|
rs746165832
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4266G>A (p.Lys1422=)
|
rs896036433
|
0.00001
|
|
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)
|
rs370114565
|
0.00001
|
|
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)
|
rs534158221
|
0.00001
|
|
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu)
|
rs1214667759
|
0.00001
|
|
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg)
|
rs777551786
|
0.00001
|
|
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)
|
rs916623598
|
0.00001
|
|
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu)
|
rs1034562071
|
0.00001
|
|
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)
|
rs752298116
|
0.00001
|
|
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu)
|
rs769213771
|
0.00001
|
|
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala)
|
rs1313711063
|
0.00001
|
|
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu)
|
rs750755857
|
0.00001
|
|
NM_001754.5(RUNX1):c.367G>C (p.Asp123His)
|
rs373498347
|
0.00001
|
|
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)
|
rs1182543054
|
0.00001
|
|
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys)
|
rs765528082
|
0.00001
|
|
NM_001754.5(RUNX1):c.764A>G (p.His255Arg)
|
rs746977462
|
0.00001
|
|
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser)
|
rs746531841
|
0.00001
|
|
NM_001906.6(CTRB1):c.633C>T (p.Gly211=)
|
rs193920783
|
0.00001
|
|
NM_002354.3(EPCAM):c.-192G>T
|
rs376344699
|
0.00001
|
|
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)
|
rs778641299
|
0.00001
|
|
NM_002354.3(EPCAM):c.20T>A (p.Leu7His)
|
rs878854486
|
0.00001
|
|
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)
|
rs587780765
|
0.00001
|
|
NM_002354.3(EPCAM):c.583C>G (p.Leu195Val)
|
rs770760223
|
0.00001
|
|
NM_002354.3(EPCAM):c.603A>G (p.Gln201=)
|
rs730882126
|
0.00001
|
|
NM_002354.3(EPCAM):c.612G>C (p.Gln204His)
|
rs775276504
|
0.00001
|
|
NM_002354.3(EPCAM):c.643T>A (p.Tyr215Asn)
|
rs750826481
|
0.00001
|
|
NM_002354.3(EPCAM):c.667G>C (p.Glu223Gln)
|
rs372674836
|
0.00001
|
|
NM_002354.3(EPCAM):c.739A>C (p.Thr247Pro)
|
rs147958220
|
0.00001
|
|
NM_002354.3(EPCAM):c.766G>T (p.Ala256Ser)
|
rs864622089
|
0.00001
|
|
NM_002354.3(EPCAM):c.76G>A (p.Glu26Lys)
|
rs764492954
|
0.00001
|
|
NM_002439.5(MSH3):c.1030G>A (p.Val344Met)
|
rs1211104824
|
0.00001
|
|
NM_002439.5(MSH3):c.1052A>G (p.Asp351Gly)
|
rs555101803
|
0.00001
|
|
NM_002439.5(MSH3):c.1232G>A (p.Arg411His)
|
rs764885728
|
0.00001
|
|
NM_002439.5(MSH3):c.1238A>G (p.Glu413Gly)
|
rs752223122
|
0.00001
|
|
NM_002439.5(MSH3):c.1270G>A (p.Val424Ile)
|
rs1418423507
|
0.00001
|
|
NM_002439.5(MSH3):c.1306A>G (p.Thr436Ala)
|
rs1336202860
|
0.00001
|
|
NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys)
|
rs963234468
|
0.00001
|
|
NM_002439.5(MSH3):c.1436A>G (p.Asp479Gly)
|
rs1485170914
|
0.00001
|
|
NM_002439.5(MSH3):c.1453+5A>C
|
rs1743273324
|
0.00001
|
|
NM_002439.5(MSH3):c.1472G>T (p.Gly491Val)
|
rs749116282
|
0.00001
|
|
NM_002439.5(MSH3):c.1492C>G (p.Pro498Ala)
|
rs746541629
|
0.00001
|
|
NM_002439.5(MSH3):c.1523A>G (p.Lys508Arg)
|
rs763370550
|
0.00001
|
|
NM_002439.5(MSH3):c.1568+5G>A
|
rs778804919
|
0.00001
|
|
NM_002439.5(MSH3):c.1629G>C (p.Arg543Ser)
|
rs780712445
|
0.00001
|
|
NM_002439.5(MSH3):c.1661T>C (p.Met554Thr)
|
rs755514051
|
0.00001
|
|
NM_002439.5(MSH3):c.1667C>T (p.Thr556Ile)
|
rs1199212284
|
0.00001
|
|
NM_002439.5(MSH3):c.1712T>C (p.Phe571Ser)
|
rs1046367272
|
0.00001
|
|
NM_002439.5(MSH3):c.1777C>T (p.Arg593Trp)
|
rs759118105
|
0.00001
|
|
NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln)
|
rs764832633
|
0.00001
|
|
NM_002439.5(MSH3):c.1793C>T (p.Ser598Leu)
|
rs757559761
|
0.00001
|
|
NM_002439.5(MSH3):c.1807T>G (p.Ser603Ala)
|
rs751907249
|
0.00001
|
|
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys)
|
rs759247521
|
0.00001
|
|
NM_002439.5(MSH3):c.1877G>A (p.Cys626Tyr)
|
rs780102728
|
0.00001
|
|
NM_002439.5(MSH3):c.1969C>T (p.Pro657Ser)
|
rs766652796
|
0.00001
|
|
NM_002439.5(MSH3):c.2128C>T (p.Pro710Ser)
|
rs746233320
|
0.00001
|
|
NM_002439.5(MSH3):c.2256T>A (p.Phe752Leu)
|
rs1423667148
|
0.00001
|
|
NM_002439.5(MSH3):c.2320A>G (p.Thr774Ala)
|
rs1287961338
|
0.00001
|
|
NM_002439.5(MSH3):c.2357T>C (p.Val786Ala)
|
rs747229778
|
0.00001
|
|
NM_002439.5(MSH3):c.237+3A>G
|
rs745911924
|
0.00001
|
|
NM_002439.5(MSH3):c.2383C>T (p.Leu795Phe)
|
rs768661033
|
0.00001
|
|
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg)
|
rs555670202
|
0.00001
|
|
NM_002439.5(MSH3):c.2434G>C (p.Glu812Gln)
|
rs1386308078
|
0.00001
|
|
NM_002439.5(MSH3):c.2450A>G (p.His817Arg)
|
rs764649920
|
0.00001
|
|
NM_002439.5(MSH3):c.2603A>T (p.Asp868Val)
|
rs201676445
|
0.00001
|
|
NM_002439.5(MSH3):c.2738C>G (p.Thr913Ser)
|
rs145977077
|
0.00001
|
|
NM_002439.5(MSH3):c.2785A>T (p.Ile929Phe)
|
rs759266003
|
0.00001
|
|
NM_002439.5(MSH3):c.2786T>C (p.Ile929Thr)
|
rs764871098
|
0.00001
|
|
NM_002439.5(MSH3):c.2803A>G (p.Ile935Val)
|
rs1490213002
|
0.00001
|
|
NM_002439.5(MSH3):c.282T>A (p.Asp94Glu)
|
rs1017222595
|
0.00001
|
|
NM_002439.5(MSH3):c.2857A>T (p.Met953Leu)
|
rs528928531
|
0.00001
|
|
NM_002439.5(MSH3):c.3001-8T>A
|
rs1580098561
|
0.00001
|
|
NM_002439.5(MSH3):c.3128C>T (p.Pro1043Leu)
|
rs1268866296
|
0.00001
|
|
NM_002439.5(MSH3):c.3191C>T (p.Ala1064Val)
|
rs1354644574
|
0.00001
|
|
NM_002439.5(MSH3):c.3241G>A (p.Glu1081Lys)
|
rs1328941442
|
0.00001
|
|
NM_002439.5(MSH3):c.334G>A (p.Asp112Asn)
|
rs200930907
|
0.00001
|
|
NM_002439.5(MSH3):c.481G>A (p.Ala161Thr)
|
rs759608517
|
0.00001
|
|
NM_002439.5(MSH3):c.587C>T (p.Thr196Ile)
|
rs774402842
|
0.00001
|
|
NM_002439.5(MSH3):c.653C>T (p.Ser218Phe)
|
rs749571333
|
0.00001
|
|
NM_002439.5(MSH3):c.670C>T (p.Arg224Trp)
|
rs748207601
|
0.00001
|
|
NM_002439.5(MSH3):c.758G>C (p.Gly253Ala)
|
rs1434358007
|
0.00001
|
|
NM_002439.5(MSH3):c.803G>A (p.Arg268Gln)
|
rs760032154
|
0.00001
|
|
NM_002439.5(MSH3):c.824A>G (p.His275Arg)
|
rs1228477054
|
0.00001
|
|
NM_002439.5(MSH3):c.886C>T (p.Arg296Cys)
|
rs201216791
|
0.00001
|
|
NM_002439.5(MSH3):c.887G>T (p.Arg296Leu)
|
rs746594395
|
0.00001
|
|
NM_002439.5(MSH3):c.98G>A (p.Ser33Asn)
|
rs1489972731
|
0.00001
|
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
|
NM_002485.5(NBN):c.445C>T (p.His149Tyr)
|
rs1161054161
|
0.00001
|
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
|
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg)
|
rs761247634
|
0.00001
|
|
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His)
|
rs200022271
|
0.00001
|
|
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro)
|
rs1306924167
|
0.00001
|
|
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)
|
rs547972574
|
0.00001
|
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
|
NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr)
|
rs1057519693
|
0.00001
|
|
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)
|
rs765185645
|
0.00001
|
|
NM_002691.4(POLD1):c.674G>A (p.Arg225His)
|
rs144979965
|
0.00001
|
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
|
NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys)
|
rs150063446
|
0.00001
|
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
|
NM_002878.4(RAD51D):c.491T>C (p.Leu164Pro)
|
rs769287847
|
0.00001
|
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
|
NM_002878.4(RAD51D):c.772G>A (p.Gly258Arg)
|
rs181695922
|
0.00001
|
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
|
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
|
NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
|
NM_003000.3(SDHB):c.642+6G>A
|
rs1326333007
|
0.00001
|
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
|
NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
0.00001
|
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
0.00001
|
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
|
NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg)
|
rs193920767
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1000G>A (p.Gly334Arg)
|
rs1364450672
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1013A>G (p.Gln338Arg)
|
rs757896781
|
0.00001
|
|
NM_003072.5(SMARCA4):c.101C>G (p.Pro34Arg)
|
rs2085811631
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1051C>T (p.Arg351Cys)
|
rs2086199522
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu)
|
rs1060502094
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1075C>T (p.Arg359Trp)
|
rs1213473194
|
0.00001
|
|
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu)
|
rs766176476
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1084G>A (p.Asp362Asn)
|
rs776534924
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val)
|
rs1246299696
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val)
|
rs750861625
|
0.00001
|
|
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile)
|
rs765325777
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1274G>A (p.Arg425Gln)
|
rs377549345
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1303A>G (p.Asn435Asp)
|
rs371062068
|
0.00001
|
|
NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu)
|
rs1344101243
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1322G>A (p.Arg441His)
|
rs761519909
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1330C>T (p.Arg444Cys)
|
rs550815250
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1403G>A (p.Arg468His)
|
rs1310204828
|
0.00001
|
|
NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu)
|
rs1284152280
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1430A>G (p.Asn477Ser)
|
rs748930248
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile)
|
rs372078902
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1517C>T (p.Thr506Met)
|
rs1286498410
|
0.00001
|
|
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)
|
rs1218848193
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1762-10C>A
|
rs754221543
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1765G>A (p.Ala589Thr)
|
rs765850087
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1774G>A (p.Ala592Thr)
|
rs1257518561
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu)
|
rs750891894
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)
|
rs779952581
|
0.00001
|
|
NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)
|
rs1307434805
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr)
|
rs1207080512
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1864G>A (p.Val622Met)
|
rs745382051
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1886C>T (p.Thr629Ile)
|
rs947818318
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1907C>G (p.Ala636Gly)
|
rs201807686
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg)
|
rs917552239
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1933A>T (p.Met645Leu)
|
rs763375817
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu)
|
rs774927302
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp)
|
rs367689657
|
0.00001
|
|
NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr)
|
rs762625346
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2001+5G>T
|
rs780996751
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
|
NM_003072.5(SMARCA4):c.205A>G (p.Met69Val)
|
rs2085822268
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met)
|
rs767328169
|
0.00001
|
|
NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr)
|
rs1443052655
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn)
|
rs1486794288
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp)
|
rs781539973
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2171T>G (p.Leu724Arg)
|
rs1414018244
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2177G>A (p.Arg726His)
|
rs749349816
|
0.00001
|
|
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg)
|
rs748147246
|
0.00001
|
|
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg)
|
rs1291938544
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2239G>A (p.Ala747Thr)
|
rs1228221272
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2240C>T (p.Ala747Val)
|
rs2088720436
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile)
|
rs1483352845
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2396A>G (p.His799Arg)
|
rs747912219
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2404A>G (p.Ile802Val)
|
rs1454445195
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2428G>A (p.Val810Met)
|
rs1060502056
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val)
|
rs1276140261
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2486T>C (p.Val829Ala)
|
rs1455752885
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2505+4G>A
|
rs745383210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2506-3C>T
|
rs1060502095
|
0.00001
|
|
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)
|
rs998875986
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2528C>T (p.Ala843Val)
|
rs1568482840
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2533G>A (p.Val845Ile)
|
rs878854210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His)
|
rs1064796361
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2549G>T (p.Ser850Ile)
|
rs1394680906
|
0.00001
|
|
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)
|
rs751542188
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2616+5C>T
|
rs763025766
|
0.00001
|
|
NM_003072.5(SMARCA4):c.266G>A (p.Arg89His)
|
rs1599941069
|
0.00001
|
|
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)
|
rs755987663
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2859+3G>T
|
rs2089905213
|
0.00001
|
|
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)
|
rs140176945
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val)
|
rs1350288991
|
0.00001
|
|
NM_003072.5(SMARCA4):c.302G>T (p.Gly101Val)
|
rs1555752083
|
0.00001
|
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
|
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)
|
rs770147215
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3216-3C>T
|
rs1310639053
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3218T>A (p.Leu1073Gln)
|
rs767165458
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3263T>C (p.Ile1088Thr)
|
rs1363642477
|
0.00001
|
|
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)
|
rs763471007
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3274C>T (p.Leu1092Phe)
|
rs1292810203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val)
|
rs755069412
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His)
|
rs370466670
|
0.00001
|
|
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)
|
rs1057523400
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3383-3C>A
|
rs371558035
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3409A>G (p.Met1137Val)
|
rs1194707294
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp)
|
rs566531015
|
0.00001
|
|
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)
|
rs1268937748
|
0.00001
|
|
NM_003072.5(SMARCA4):c.350C>T (p.Ser117Phe)
|
rs759594383
|
0.00001
|
|
NM_003072.5(SMARCA4):c.353A>G (p.Gln118Arg)
|
rs1339250127
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3574C>T (p.Arg1192Cys)
|
rs1568509370
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3598C>T (p.Arg1200Cys)
|
rs1600389401
|
0.00001
|
|
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)
|
rs1201812441
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3628G>A (p.Val1210Met)
|
rs1358760766
|
0.00001
|
|
NM_003072.5(SMARCA4):c.371T>A (p.Leu124Gln)
|
rs754451765
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3734C>T (p.Ala1245Val)
|
rs797045984
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3774G>A (p.Glu1258=)
|
rs1568510163
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)
|
rs587778685
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3874-9A>G
|
rs1371357028
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile)
|
rs1185321977
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3919G>A (p.Ala1307Thr)
|
rs1568512220
|
0.00001
|
|
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)
|
rs1057520203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4054G>A (p.Ala1352Thr)
|
rs1228120902
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln)
|
rs1204091534
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4098G>A (p.Met1366Ile)
|
rs763586264
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4106G>A (p.Arg1369His)
|
rs1388796557
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)
|
rs1262500025
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)
|
rs1555788108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4214G>A (p.Arg1405Gln)
|
rs1016382250
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4221G>T (p.Lys1407Asn)
|
rs1384070535
|
0.00001
|
|
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4237C>T (p.Arg1413Cys)
|
rs558017726
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4244G>A (p.Arg1415Gln)
|
rs878854225
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4252G>A (p.Asp1418Asn)
|
rs761083981
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4262C>T (p.Ser1421Phe)
|
rs150958750
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4277C>T (p.Thr1426Ile)
|
rs1334955221
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His)
|
rs1290442223
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)
|
rs587778681
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His)
|
rs377573682
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4306G>A (p.Glu1436Lys)
|
rs779143381
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro)
|
rs1267513562
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4436G>A (p.Arg1479His)
|
rs1057523566
|
0.00001
|
|
NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val)
|
rs766946874
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4447G>A (p.Glu1483Lys)
|
rs1303255317
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4497G>C (p.Glu1499Asp)
|
rs1264821826
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp)
|
rs587778684
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4547A>G (p.Asn1516Ser)
|
rs767810437
|
0.00001
|
|
NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val)
|
rs777272957
|
0.00001
|
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His)
|
rs1389184364
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu)
|
rs1057523990
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp)
|
rs749700321
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4693_4695del (p.Glu1565del)
|
rs1176307604
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu)
|
rs1470609623
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4717G>A (p.Glu1573Lys)
|
rs775433905
|
0.00001
|
|
NM_003072.5(SMARCA4):c.472G>A (p.Asp158Asn)
|
rs1386092080
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4738G>C (p.Glu1580Gln)
|
rs1600644640
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4744G>A (p.Glu1582Lys)
|
rs768899897
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4753G>T (p.Gly1585Cys)
|
rs2076756606
|
0.00001
|
|
NM_003072.5(SMARCA4):c.476C>A (p.Pro159His)
|
rs747458180
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln)
|
rs1356932636
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile)
|
rs753578157
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4793A>G (p.Lys1598Arg)
|
rs1195158895
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4813G>A (p.Ala1605Thr)
|
rs141224876
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4822C>T (p.Arg1608Trp)
|
rs1568565786
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4837C>T (p.Arg1613Trp)
|
rs1370639203
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4843C>T (p.Arg1615Trp)
|
rs902428108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln)
|
rs1278313953
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4853G>A (p.Arg1618Gln)
|
rs1029465394
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln)
|
rs964459864
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4865C>T (p.Ala1622Val)
|
rs1275554425
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4898A>G (p.Glu1633Gly)
|
rs1437896707
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4907A>G (p.Glu1636Gly)
|
rs1233964657
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4909G>A (p.Glu1637Lys)
|
rs1298648044
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+1G>A
|
rs1341783002
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+20C>T
|
rs1476216089
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+4A>G
|
rs371030397
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4911+6G>C
|
rs878854235
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
|
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)
|
rs11537673
|
0.00001
|
|
NM_003072.5(SMARCA4):c.500G>A (p.Arg167Gln)
|
rs748340475
|
0.00001
|
|
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)
|
rs780497718
|
0.00001
|
|
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp)
|
rs748298484
|
0.00001
|
|
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)
|
rs769756381
|
0.00001
|
|
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile)
|
rs1043452739
|
0.00001
|
|
NM_003072.5(SMARCA4):c.632C>T (p.Pro211Leu)
|
rs1046912361
|
0.00001
|
|
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His)
|
rs878854236
|
0.00001
|
|
NM_003072.5(SMARCA4):c.650T>G (p.Met217Arg)
|
rs1060502066
|
0.00001
|
|
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)
|
rs1227659334
|
0.00001
|
|
NM_003072.5(SMARCA4):c.664C>T (p.Pro222Ser)
|
rs1466661081
|
0.00001
|
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
|
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala)
|
rs1021610405
|
0.00001
|
|
NM_003072.5(SMARCA4):c.688C>G (p.Pro230Ala)
|
rs760294422
|
0.00001
|
|
NM_003072.5(SMARCA4):c.691G>A (p.Gly231Ser)
|
rs555467836
|
0.00001
|
|
NM_003072.5(SMARCA4):c.703G>A (p.Gly235Ser)
|
rs1219033025
|
0.00001
|
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
|
NM_003072.5(SMARCA4):c.737C>T (p.Pro246Leu)
|
rs1366344437
|
0.00001
|
|
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly)
|
rs774511507
|
0.00001
|
|
NM_003072.5(SMARCA4):c.749G>C (p.Ser250Thr)
|
rs1257597317
|
0.00001
|
|
NM_003072.5(SMARCA4):c.755C>T (p.Pro252Leu)
|
rs1316419985
|
0.00001
|
|
NM_003072.5(SMARCA4):c.757C>T (p.His253Tyr)
|
rs1210836682
|
0.00001
|
|
NM_003072.5(SMARCA4):c.761G>C (p.Gly254Ala)
|
rs767708564
|
0.00001
|
|
NM_003072.5(SMARCA4):c.763A>G (p.Met255Val)
|
rs754085815
|
0.00001
|
|
NM_003072.5(SMARCA4):c.768A>T (p.Gly256=)
|
rs1599957054
|
0.00001
|
|
NM_003072.5(SMARCA4):c.780G>C (p.Met260Ile)
|
rs753962571
|
0.00001
|
|
NM_003072.5(SMARCA4):c.788C>G (p.Pro263Arg)
|
rs1489647083
|
0.00001
|
|
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser)
|
rs759641262
|
0.00001
|
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
|
NM_003072.5(SMARCA4):c.821G>A (p.Gly274Asp)
|
rs762655769
|
0.00001
|
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
|
NM_003072.5(SMARCA4):c.847C>T (p.Pro283Ser)
|
rs775769095
|
0.00001
|
|
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val)
|
rs750547893
|
0.00001
|
|
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)
|
rs763054014
|
0.00001
|
|
NM_003072.5(SMARCA4):c.872A>T (p.Asn291Ile)
|
rs751791309
|
0.00001
|
|
NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn)
|
rs756170542
|
0.00001
|
|
NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn)
|
rs748459210
|
0.00001
|
|
NM_003072.5(SMARCA4):c.908T>C (p.Ile303Thr)
|
rs778446601
|
0.00001
|
|
NM_003072.5(SMARCA4):c.925G>A (p.Gly309Ser)
|
rs773701962
|
0.00001
|
|
NM_003072.5(SMARCA4):c.925G>C (p.Gly309Arg)
|
rs773701962
|
0.00001
|
|
NM_003072.5(SMARCA4):c.926G>T (p.Gly309Val)
|
rs762999710
|
0.00001
|
|
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val)
|
rs549254467
|
0.00001
|
|
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu)
|
rs878854245
|
0.00001
|
|
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)
|
rs1304026031
|
0.00001
|
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
|
NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser)
|
rs1460796481
|
0.00001
|
|
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)
|
rs910095001
|
0.00001
|
|
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)
|
rs1344296942
|
0.00001
|
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
|
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr)
|
rs770946823
|
0.00001
|
|
NM_003072.5(SMARCA4):c.97G>C (p.Gly33Arg)
|
rs1060502096
|
0.00001
|
|
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)
|
rs370097699
|
0.00001
|
|
NM_003072.5(SMARCA4):c.993G>T (p.Gln331His)
|
rs1599969549
|
0.00001
|
|
NM_003073.5(SMARCB1):c.*279G>A
|
rs886057287
|
0.00001
|
|
NM_003073.5(SMARCB1):c.-83C>T
|
rs1374186002
|
0.00001
|
|
NM_003073.5(SMARCB1):c.500+6G>C
|
rs772329556
|
0.00001
|
|
NM_003073.5(SMARCB1):c.628+4C>T
|
rs373375336
|
0.00001
|
|
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)
|
rs776693680
|
0.00001
|
|
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)
|
rs1368176286
|
0.00001
|
|
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)
|
rs2030327999
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
|
NM_003482.4(KMT2D):c.11791C>T (p.Leu3931Phe)
|
rs996158824
|
0.00001
|
|
NM_003488.4(AKAP1):c.239A>G (p.Lys80Arg)
|
rs148312142
|
0.00001
|
|
NM_003629.4(PIK3R3):c.797G>A (p.Arg266His)
|
rs765790132
|
0.00001
|
|
NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)
|
rs763767114
|
0.00001
|
|
NM_003722.5(TP63):c.677G>A (p.Arg226His)
|
rs193921145
|
0.00001
|
|
NM_003981.4(PRC1):c.971-375A>G
|
rs186031385
|
0.00001
|
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
|
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp)
|
rs761231404
|
0.00001
|
|
NM_004304.5(ALK):c.623T>C (p.Ile208Thr)
|
rs372226787
|
0.00001
|
|
NM_004327.4(BCR):c.1149C>T (p.Pro383=)
|
rs775817981
|
0.00001
|
|
NM_004327.4(BCR):c.685C>T (p.Pro229Ser)
|
rs1441856766
|
0.00001
|
|
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)
|
rs1158980679
|
0.00001
|
|
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)
|
rs1011563467
|
0.00001
|
|
NM_004333.6(BRAF):c.1166G>A (p.Arg389His)
|
rs577372072
|
0.00001
|
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
|
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)
|
rs1211436028
|
0.00001
|
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
|
NM_004360.5(CDH1):c.*172A>C
|
rs886052237
|
0.00001
|
|
NM_004360.5(CDH1):c.*1765A>G
|
rs1343770513
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-13G>A
|
rs557444760
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
|
NM_004360.5(CDH1):c.1013T>C (p.Phe338Ser)
|
rs1060501219
|
0.00001
|
|
NM_004360.5(CDH1):c.1024A>T (p.Thr342Ser)
|
rs587782073
|
0.00001
|
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
|
NM_004360.5(CDH1):c.1073C>T (p.Thr358Ile)
|
rs1191901557
|
0.00001
|
|
NM_004360.5(CDH1):c.1079C>G (p.Thr360Arg)
|
rs549579183
|
0.00001
|
|
NM_004360.5(CDH1):c.1090A>T (p.Thr364Ser)
|
rs778868539
|
0.00001
|
|
NM_004360.5(CDH1):c.1103C>T (p.Thr368Ile)
|
rs367868307
|
0.00001
|
|
NM_004360.5(CDH1):c.1127A>G (p.Asn376Ser)
|
rs1169866178
|
0.00001
|
|
NM_004360.5(CDH1):c.112A>G (p.Thr38Ala)
|
rs786203442
|
0.00001
|
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-10T>C
|
rs758324153
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-13C>G
|
rs1399457483
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
0.00001
|
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
|
NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)
|
rs150795245
|
0.00001
|
|
NM_004360.5(CDH1):c.1210C>T (p.Pro404Ser)
|
rs1334047600
|
0.00001
|
|
NM_004360.5(CDH1):c.1213A>G (p.Asn405Asp)
|
rs1336921050
|
0.00001
|
|
NM_004360.5(CDH1):c.1217C>G (p.Thr406Ser)
|
rs753770270
|
0.00001
|
|
NM_004360.5(CDH1):c.1243A>G (p.Ile415Val)
|
rs1060501239
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)
|
rs876659333
|
0.00001
|
|
NM_004360.5(CDH1):c.1279A>G (p.Thr427Ala)
|
rs1064793864
|
0.00001
|
|
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)
|
rs758764445
|
0.00001
|
|
NM_004360.5(CDH1):c.1319A>G (p.Lys440Arg)
|
rs864622165
|
0.00001
|
|
NM_004360.5(CDH1):c.1325T>C (p.Leu442Ser)
|
rs752074266
|
0.00001
|
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
|
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn)
|
rs750741214
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.1402A>G (p.Thr468Ala)
|
rs745617489
|
0.00001
|
|
NM_004360.5(CDH1):c.1446A>T (p.Glu482Asp)
|
rs863224724
|
0.00001
|
|
NM_004360.5(CDH1):c.1478T>C (p.Val493Ala)
|
rs786202407
|
0.00001
|
|
NM_004360.5(CDH1):c.1478T>G (p.Val493Gly)
|
rs786202407
|
0.00001
|
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
|
NM_004360.5(CDH1):c.1503G>A (p.Val501=)
|
rs775290153
|
0.00001
|
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
|
NM_004360.5(CDH1):c.1516A>G (p.Thr506Ala)
|
rs114885938
|
0.00001
|
|
NM_004360.5(CDH1):c.151G>A (p.Val51Ile)
|
rs1555509780
|
0.00001
|
|
NM_004360.5(CDH1):c.1525A>G (p.Thr509Ala)
|
rs761356661
|
0.00001
|
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
|
NM_004360.5(CDH1):c.1543A>G (p.Thr515Ala)
|
rs1219371636
|
0.00001
|
|
NM_004360.5(CDH1):c.1563A>G (p.Ile521Met)
|
rs761162838
|
0.00001
|
|
NM_004360.5(CDH1):c.1571G>A (p.Arg524Gln)
|
rs761180883
|
0.00001
|
|
NM_004360.5(CDH1):c.1601A>G (p.Glu534Gly)
|
rs765495095
|
0.00001
|
|
NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)
|
rs756154596
|
0.00001
|
|
NM_004360.5(CDH1):c.1628C>T (p.Ser543Phe)
|
rs148400889
|
0.00001
|
|
NM_004360.5(CDH1):c.163+6G>A
|
rs1436334058
|
0.00001
|
|
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp)
|
rs863224727
|
0.00001
|
|
NM_004360.5(CDH1):c.1634G>T (p.Arg545Leu)
|
rs587780115
|
0.00001
|
|
NM_004360.5(CDH1):c.1645G>A (p.Asp549Asn)
|
rs876659525
|
0.00001
|
|
NM_004360.5(CDH1):c.1666G>A (p.Val556Met)
|
rs876660399
|
0.00001
|
|
NM_004360.5(CDH1):c.1711+6G>T
|
rs1555516597
|
0.00001
|
|
NM_004360.5(CDH1):c.1712-3T>G
|
rs1269786119
|
0.00001
|
|
NM_004360.5(CDH1):c.1712G>A (p.Gly571Asp)
|
rs1961155617
|
0.00001
|
|
NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)
|
rs1060501234
|
0.00001
|
|
NM_004360.5(CDH1):c.1757C>T (p.Ser586Phe)
|
rs864622599
|
0.00001
|
|
NM_004360.5(CDH1):c.1770C>A (p.Asp590Glu)
|
rs864622319
|
0.00001
|
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
|
NM_004360.5(CDH1):c.1790C>G (p.Pro597Arg)
|
rs1961161092
|
0.00001
|
|
NM_004360.5(CDH1):c.1842C>T (p.Ile614=)
|
rs773368593
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.1844T>C (p.Ile615Thr)
|
rs760707493
|
0.00001
|
|
NM_004360.5(CDH1):c.185G>T (p.Gly62Val)
|
rs786203727
|
0.00001
|
|
NM_004360.5(CDH1):c.1885G>C (p.Glu629Gln)
|
rs1028765743
|
0.00001
|
|
NM_004360.5(CDH1):c.1897G>A (p.Gly633Arg)
|
rs587781615
|
0.00001
|
|
NM_004360.5(CDH1):c.1900G>A (p.Ala634Thr)
|
rs1060501240
|
0.00001
|
|
NM_004360.5(CDH1):c.1906G>A (p.Ala636Thr)
|
rs876658950
|
0.00001
|
|
NM_004360.5(CDH1):c.1929C>T (p.Asn643=)
|
rs374152504
|
0.00001
|
|
NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala)
|
rs771064558
|
0.00001
|
|
NM_004360.5(CDH1):c.1953T>G (p.Ile651Met)
|
rs1555517083
|
0.00001
|
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
|
NM_004360.5(CDH1):c.2009T>C (p.Met670Thr)
|
rs773006015
|
0.00001
|
|
NM_004360.5(CDH1):c.200C>A (p.Ala67Asp)
|
rs730881660
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.2033T>C (p.Val678Ala)
|
rs876659352
|
0.00001
|
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
|
NM_004360.5(CDH1):c.2050A>G (p.Ser684Gly)
|
rs1407001897
|
0.00001
|
|
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr)
|
rs876660560
|
0.00001
|
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
|
NM_004360.5(CDH1):c.20G>C (p.Ser7Thr)
|
rs1310934198
|
0.00001
|
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
|
NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)
|
rs1060501244
|
0.00001
|
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
|
NM_004360.5(CDH1):c.220C>G (p.Arg74Gly)
|
rs876658932
|
0.00001
|
|
NM_004360.5(CDH1):c.2219C>A (p.Pro740His)
|
rs730881669
|
0.00001
|
|
NM_004360.5(CDH1):c.225C>G (p.Phe75Leu)
|
rs767019668
|
0.00001
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
|
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys)
|
rs187289510
|
0.00001
|
|
NM_004360.5(CDH1):c.2268T>G (p.Asp756Glu)
|
rs1567515480
|
0.00001
|
|
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)
|
rs779648243
|
0.00001
|
|
NM_004360.5(CDH1):c.22C>G (p.Leu8Val)
|
rs1234138761
|
0.00001
|
|
NM_004360.5(CDH1):c.2302G>A (p.Asp768Asn)
|
rs786201999
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2320A>G (p.Arg774Gly)
|
rs753540183
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
|
NM_004360.5(CDH1):c.233G>A (p.Gly78Asp)
|
rs587781404
|
0.00001
|
|
NM_004360.5(CDH1):c.2351G>A (p.Arg784His)
|
rs763203357
|
0.00001
|
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
|
NM_004360.5(CDH1):c.2383C>T (p.Pro795Ser)
|
rs1298997936
|
0.00001
|
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
|
NM_004360.5(CDH1):c.2414A>G (p.Asp805Gly)
|
rs1481419710
|
0.00001
|
|
NM_004360.5(CDH1):c.2416G>A (p.Glu806Lys)
|
rs376922615
|
0.00001
|
|
NM_004360.5(CDH1):c.2426A>G (p.Asn809Ser)
|
rs1427872591
|
0.00001
|
|
NM_004360.5(CDH1):c.2448A>C (p.Lys816Asn)
|
rs762704513
|
0.00001
|
|
NM_004360.5(CDH1):c.244G>A (p.Val82Met)
|
rs1064793867
|
0.00001
|
|
NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)
|
rs878854685
|
0.00001
|
|
NM_004360.5(CDH1):c.2459C>T (p.Thr820Ile)
|
rs767159815
|
0.00001
|
|
NM_004360.5(CDH1):c.245T>G (p.Val82Gly)
|
rs942284129
|
0.00001
|
|
NM_004360.5(CDH1):c.2464C>T (p.Pro822Ser)
|
rs876660086
|
0.00001
|
|
NM_004360.5(CDH1):c.2485T>G (p.Ser829Ala)
|
rs1265463733
|
0.00001
|
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
|
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)
|
rs754388534
|
0.00001
|
|
NM_004360.5(CDH1):c.2521G>A (p.Glu841Lys)
|
rs377489352
|
0.00001
|
|
NM_004360.5(CDH1):c.2543T>C (p.Leu848Pro)
|
rs767315263
|
0.00001
|
|
NM_004360.5(CDH1):c.2545A>G (p.Asn849Asp)
|
rs876660881
|
0.00001
|
|
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys)
|
rs1337211551
|
0.00001
|
|
NM_004360.5(CDH1):c.254T>C (p.Val85Ala)
|
rs878854688
|
0.00001
|
|
NM_004360.5(CDH1):c.2555A>C (p.Glu852Ala)
|
rs1485384861
|
0.00001
|
|
NM_004360.5(CDH1):c.2572G>C (p.Asp858His)
|
rs587782025
|
0.00001
|
|
NM_004360.5(CDH1):c.2574C>A (p.Asp858Glu)
|
rs1060501245
|
0.00001
|
|
NM_004360.5(CDH1):c.2578G>T (p.Asp860Tyr)
|
rs1412506259
|
0.00001
|
|
NM_004360.5(CDH1):c.257A>G (p.Lys86Arg)
|
rs1160169015
|
0.00001
|
|
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser)
|
rs864622630
|
0.00001
|
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
|
NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)
|
rs878854689
|
0.00001
|
|
NM_004360.5(CDH1):c.2629G>A (p.Gly877Arg)
|
rs555842031
|
0.00001
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)
|
rs1053572488
|
0.00001
|
|
NM_004360.5(CDH1):c.294C>A (p.Phe98Leu)
|
rs1177900932
|
0.00001
|
|
NM_004360.5(CDH1):c.29C>T (p.Ala10Val)
|
rs1375360857
|
0.00001
|
|
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)
|
rs587778172
|
0.00001
|
|
NM_004360.5(CDH1):c.337A>G (p.Lys113Glu)
|
rs876661106
|
0.00001
|
|
NM_004360.5(CDH1):c.35T>C (p.Leu12Pro)
|
rs1191249318
|
0.00001
|
|
NM_004360.5(CDH1):c.363C>A (p.His121Gln)
|
rs781427897
|
0.00001
|
|
NM_004360.5(CDH1):c.365A>G (p.His122Arg)
|
rs373668742
|
0.00001
|
|
NM_004360.5(CDH1):c.368A>G (p.His123Arg)
|
rs786202794
|
0.00001
|
|
NM_004360.5(CDH1):c.369C>G (p.His123Gln)
|
rs778954591
|
0.00001
|
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
|
NM_004360.5(CDH1):c.373C>T (p.Pro125Ser)
|
rs730881662
|
0.00001
|
|
NM_004360.5(CDH1):c.378G>T (p.Pro126=)
|
rs786201504
|
0.00001
|
|
NM_004360.5(CDH1):c.382C>T (p.His128Tyr)
|
rs376152506
|
0.00001
|
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
|
NM_004360.5(CDH1):c.427C>T (p.Pro143Ser)
|
rs876661226
|
0.00001
|
|
NM_004360.5(CDH1):c.44T>A (p.Leu15Gln)
|
rs370614162
|
0.00001
|
|
NM_004360.5(CDH1):c.456G>C (p.Gln152His)
|
rs745589555
|
0.00001
|
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
|
NM_004360.5(CDH1):c.48G>T (p.Gln16His)
|
rs749591910
|
0.00001
|
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
|
NM_004360.5(CDH1):c.553G>C (p.Glu185Gln)
|
rs1434277339
|
0.00001
|
|
NM_004360.5(CDH1):c.55T>G (p.Ser19Ala)
|
rs1042391377
|
0.00001
|
|
NM_004360.5(CDH1):c.562G>A (p.Val188Ile)
|
rs775484115
|
0.00001
|
|
NM_004360.5(CDH1):c.574A>G (p.Ile192Val)
|
rs376102028
|
0.00001
|
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
|
NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)
|
rs146777134
|
0.00001
|
|
NM_004360.5(CDH1):c.620T>C (p.Ile207Thr)
|
rs778570149
|
0.00001
|
|
NM_004360.5(CDH1):c.622G>A (p.Glu208Lys)
|
rs898610512
|
0.00001
|
|
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)
|
rs587781766
|
0.00001
|
|
NM_004360.5(CDH1):c.650C>A (p.Thr217Lys)
|
rs778382252
|
0.00001
|
|
NM_004360.5(CDH1):c.665G>A (p.Arg222Lys)
|
rs1555515287
|
0.00001
|
|
NM_004360.5(CDH1):c.679A>G (p.Thr227Ala)
|
rs1064796018
|
0.00001
|
|
NM_004360.5(CDH1):c.722C>G (p.Ala241Gly)
|
rs1267605366
|
0.00001
|
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
|
NM_004360.5(CDH1):c.758C>T (p.Thr253Ile)
|
rs776503962
|
0.00001
|
|
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys)
|
rs121964873
|
0.00001
|
|
NM_004360.5(CDH1):c.793G>C (p.Glu265Gln)
|
rs876659503
|
0.00001
|
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
|
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)
|
rs878854696
|
0.00001
|
|
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)
|
rs750979600
|
0.00001
|
|
NM_004360.5(CDH1):c.896C>G (p.Ala299Gly)
|
rs745807727
|
0.00001
|
|
NM_004360.5(CDH1):c.89C>G (p.Pro30Arg)
|
rs876660408
|
0.00001
|
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
|
NM_004360.5(CDH1):c.931C>A (p.Leu311Ile)
|
rs767003567
|
0.00001
|
|
NM_004360.5(CDH1):c.980G>C (p.Ser327Thr)
|
rs587781778
|
0.00001
|
|
NM_004360.5(CDH1):c.994G>A (p.Gly332Arg)
|
rs587781759
|
0.00001
|
|
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln)
|
rs369632687
|
0.00001
|
|
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
|
rs760372994
|
0.00001
|
|
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
|
rs1410617603
|
0.00001
|
|
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)
|
rs1439202716
|
0.00001
|
|
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly)
|
rs577659401
|
0.00001
|
|
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)
|
rs1415169403
|
0.00001
|
|
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val)
|
rs1967197829
|
0.00001
|
|
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
|
rs1346240180
|
0.00001
|
|
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
|
rs1182161658
|
0.00001
|
|
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
|
rs1341205888
|
0.00001
|
|
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met)
|
rs1060502119
|
0.00001
|
|
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn)
|
rs1452063514
|
0.00001
|
|
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
|
rs949548349
|
0.00001
|
|
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)
|
rs917977456
|
0.00001
|
|
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser)
|
rs1289919155
|
0.00001
|
|
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp)
|
rs1358539228
|
0.00001
|
|
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
|
rs1158593564
|
0.00001
|
|
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
|
rs1027991203
|
0.00001
|
|
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
|
rs996591962
|
0.00001
|
|
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
|
rs957253046
|
0.00001
|
|
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
|
rs1600023321
|
0.00001
|
|
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr)
|
rs896656951
|
0.00001
|
|
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
|
rs1055210725
|
0.00001
|
|
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser)
|
rs1362518517
|
0.00001
|
|
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)
|
rs1379627026
|
0.00001
|
|
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe)
|
rs908433906
|
0.00001
|
|
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
|
rs1366281839
|
0.00001
|
|
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
|
rs1198903435
|
0.00001
|
|
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
|
rs1967182561
|
0.00001
|
|
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
|
rs755311871
|
0.00001
|
|
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg)
|
rs1245499278
|
0.00001
|
|
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
|
rs1223584541
|
0.00001
|
|
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)
|
rs1325138029
|
0.00001
|
|
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His)
|
rs1060502124
|
0.00001
|
|
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser)
|
rs998501847
|
0.00001
|
|
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu)
|
rs1555742114
|
0.00001
|
|
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu)
|
rs1247330890
|
0.00001
|
|
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu)
|
rs1568419736
|
0.00001
|
|
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg)
|
rs1329725504
|
0.00001
|
|
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)
|
rs1347174767
|
0.00001
|
|
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
|
rs1378898437
|
0.00001
|
|
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
|
rs1308550194
|
0.00001
|
|
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr)
|
rs933936962
|
0.00001
|
|
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser)
|
rs1315043080
|
0.00001
|
|
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
|
rs1189516787
|
0.00001
|
|
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser)
|
rs1049967
|
0.00001
|
|
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly)
|
rs1340981881
|
0.00001
|
|
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)
|
rs746895795
|
0.00001
|
|
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
|
rs1263173603
|
0.00001
|
|
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe)
|
rs1357810737
|
0.00001
|
|
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys)
|
rs1228704709
|
0.00001
|
|
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro)
|
rs1294426980
|
0.00001
|
|
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val)
|
rs780335632
|
0.00001
|
|
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln)
|
rs1392203731
|
0.00001
|
|
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
|
rs1391793930
|
0.00001
|
|
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys)
|
rs747606716
|
0.00001
|
|
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
|
rs1422138876
|
0.00001
|
|
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)
|
rs757269723
|
0.00001
|
|
NM_004484.4(GPC3):c.1087C>T (p.Pro363Ser)
|
rs922588870
|
0.00001
|
|
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)
|
rs1238291553
|
0.00001
|
|
NM_004484.4(GPC3):c.1220G>A (p.Gly407Asp)
|
rs752259157
|
0.00001
|
|
NM_004484.4(GPC3):c.1256A>G (p.Asp419Gly)
|
rs1185485932
|
0.00001
|
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
|
NM_004484.4(GPC3):c.1292+6C>T
|
rs1207247416
|
0.00001
|
|
NM_004484.4(GPC3):c.1373T>C (p.Val458Ala)
|
rs1392958281
|
0.00001
|
|
NM_004484.4(GPC3):c.1378A>C (p.Ser460Arg)
|
rs769964258
|
0.00001
|
|
NM_004484.4(GPC3):c.1413+4T>C
|
rs1468820113
|
0.00001
|
|
NM_004484.4(GPC3):c.1535G>A (p.Gly512Glu)
|
rs1162314906
|
0.00001
|
|
NM_004484.4(GPC3):c.154G>C (p.Val52Leu)
|
rs1221218346
|
0.00001
|
|
NM_004484.4(GPC3):c.1550A>G (p.Lys517Arg)
|
rs758464784
|
0.00001
|
|
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)
|
rs1015207544
|
0.00001
|
|
NM_004484.4(GPC3):c.1604C>T (p.Ala535Val)
|
rs750138489
|
0.00001
|
|
NM_004484.4(GPC3):c.1642G>A (p.Glu548Lys)
|
rs372317881
|
0.00001
|
|
NM_004484.4(GPC3):c.1729T>C (p.Phe577Leu)
|
rs755635706
|
0.00001
|
|
NM_004484.4(GPC3):c.1736T>G (p.Val579Gly)
|
rs1197981146
|
0.00001
|
|
NM_004484.4(GPC3):c.1739A>G (p.His580Arg)
|
rs1449654880
|
0.00001
|
|
NM_004484.4(GPC3):c.174A>G (p.Pro58=)
|
rs1357590429
|
0.00001
|
|
NM_004484.4(GPC3):c.368A>G (p.Lys123Arg)
|
rs1490064135
|
0.00001
|
|
NM_004484.4(GPC3):c.391A>G (p.Lys131Glu)
|
rs1295553120
|
0.00001
|
|
NM_004484.4(GPC3):c.421G>A (p.Ala141Thr)
|
rs1360346581
|
0.00001
|
|
NM_004484.4(GPC3):c.482T>C (p.Ile161Thr)
|
rs1194302542
|
0.00001
|
|
NM_004484.4(GPC3):c.526C>G (p.Pro176Ala)
|
rs748458384
|
0.00001
|
|
NM_004484.4(GPC3):c.549G>T (p.Met183Ile)
|
rs769104574
|
0.00001
|
|
NM_004484.4(GPC3):c.596G>A (p.Arg199Gln)
|
rs1389517208
|
0.00001
|
|
NM_004484.4(GPC3):c.602C>G (p.Ala201Gly)
|
rs201344338
|
0.00001
|
|
NM_004484.4(GPC3):c.611A>G (p.Asp204Gly)
|
rs1290496193
|
0.00001
|
|
NM_004484.4(GPC3):c.624T>A (p.Phe208Leu)
|
rs140848049
|
0.00001
|
|
NM_004484.4(GPC3):c.682A>C (p.Ile228Leu)
|
rs774682860
|
0.00001
|
|
NM_004484.4(GPC3):c.753C>A (p.Asp251Glu)
|
rs770414070
|
0.00001
|
|
NM_004484.4(GPC3):c.787T>A (p.Ser263Thr)
|
rs1447010765
|
0.00001
|
|
NM_004484.4(GPC3):c.811G>A (p.Val271Ile)
|
rs2071693313
|
0.00001
|
|
NM_004484.4(GPC3):c.865G>A (p.Val289Met)
|
rs1456458902
|
0.00001
|
|
NM_004484.4(GPC3):c.869T>G (p.Val290Gly)
|
rs1244073847
|
0.00001
|
|
NM_004484.4(GPC3):c.919G>C (p.Val307Leu)
|
rs780001214
|
0.00001
|
|
NM_004484.4(GPC3):c.959T>C (p.Leu320Pro)
|
rs759943578
|
0.00001
|
|
NM_004484.4(GPC3):c.967C>T (p.Leu323Phe)
|
rs1488891852
|
0.00001
|
|
NM_004562.3(PRKN):c.551A>T (p.Asp184Val)
|
rs142383136
|
0.00001
|
|
NM_004655.4(AXIN2):c.1000C>G (p.Gln334Glu)
|
rs770254456
|
0.00001
|
|
NM_004655.4(AXIN2):c.1043C>G (p.Ser348Cys)
|
rs779669781
|
0.00001
|
|
NM_004655.4(AXIN2):c.1180C>T (p.Arg394Cys)
|
rs753049092
|
0.00001
|
|
NM_004655.4(AXIN2):c.1183C>G (p.Leu395Val)
|
rs373087123
|
0.00001
|
|
NM_004655.4(AXIN2):c.1238C>T (p.Ser413Leu)
|
rs1399215718
|
0.00001
|
|
NM_004655.4(AXIN2):c.1375C>T (p.Arg459Cys)
|
rs777680532
|
0.00001
|
|
NM_004655.4(AXIN2):c.1394G>A (p.Arg465His)
|
rs764640447
|
0.00001
|
|
NM_004655.4(AXIN2):c.1400C>T (p.Pro467Leu)
|
rs908388069
|
0.00001
|
|
NM_004655.4(AXIN2):c.1420C>T (p.His474Tyr)
|
rs1060502132
|
0.00001
|
|
NM_004655.4(AXIN2):c.1496T>C (p.Leu499Pro)
|
rs781185996
|
0.00001
|
|
NM_004655.4(AXIN2):c.1511G>A (p.Gly504Asp)
|
rs754079144
|
0.00001
|
|
NM_004655.4(AXIN2):c.1555A>G (p.Ile519Val)
|
rs146769008
|
0.00001
|
|
NM_004655.4(AXIN2):c.1582A>G (p.Lys528Glu)
|
rs756551019
|
0.00001
|
|
NM_004655.4(AXIN2):c.1618C>A (p.His540Asn)
|
rs573731155
|
0.00001
|
|
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg)
|
rs730881398
|
0.00001
|
|
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val)
|
rs373442399
|
0.00001
|
|
NM_004655.4(AXIN2):c.1763C>T (p.Pro588Leu)
|
rs1305562386
|
0.00001
|
|
NM_004655.4(AXIN2):c.1772C>T (p.Ala591Val)
|
rs1439853340
|
0.00001
|
|
NM_004655.4(AXIN2):c.1878T>A (p.Ser626Arg)
|
rs767756290
|
0.00001
|
|
NM_004655.4(AXIN2):c.1906A>G (p.Ser636Gly)
|
rs745616808
|
0.00001
|
|
NM_004655.4(AXIN2):c.1908-2A>G
|
rs978837790
|
0.00001
|
|
NM_004655.4(AXIN2):c.1918A>C (p.Thr640Pro)
|
rs1060502157
|
0.00001
|
|
NM_004655.4(AXIN2):c.1931A>G (p.Tyr644Cys)
|
rs1025003994
|
0.00001
|
|
NM_004655.4(AXIN2):c.1933C>T (p.Pro645Ser)
|
rs1405864888
|
0.00001
|
|
NM_004655.4(AXIN2):c.1984C>G (p.Leu662Val)
|
rs979932202
|
0.00001
|
|
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn)
|
rs878854724
|
0.00001
|
|
NM_004655.4(AXIN2):c.2002G>A (p.Gly668Arg)
|
rs774732785
|
0.00001
|
|
NM_004655.4(AXIN2):c.2024G>T (p.Arg675Leu)
|
rs730881401
|
0.00001
|
|
NM_004655.4(AXIN2):c.2060C>T (p.Pro687Leu)
|
rs771109399
|
0.00001
|
|
NM_004655.4(AXIN2):c.2204C>T (p.Thr735Ile)
|
rs746350974
|
0.00001
|
|
NM_004655.4(AXIN2):c.2222G>A (p.Ser741Asn)
|
rs781309325
|
0.00001
|
|
NM_004655.4(AXIN2):c.2347G>T (p.Ala783Ser)
|
rs760217787
|
0.00001
|
|
NM_004655.4(AXIN2):c.2501G>A (p.Arg834Gln)
|
rs199838262
|
0.00001
|
|
NM_004655.4(AXIN2):c.2521C>T (p.Arg841Trp)
|
rs527766429
|
0.00001
|
|
NM_004655.4(AXIN2):c.370G>A (p.Asp124Asn)
|
rs755990979
|
0.00001
|
|
NM_004655.4(AXIN2):c.407A>G (p.Lys136Arg)
|
rs1457819815
|
0.00001
|
|
NM_004655.4(AXIN2):c.469A>G (p.Ile157Val)
|
rs951973598
|
0.00001
|
|
NM_004655.4(AXIN2):c.604A>C (p.Ser202Arg)
|
rs780801809
|
0.00001
|
|
NM_004655.4(AXIN2):c.671A>G (p.Tyr224Cys)
|
rs1166843937
|
0.00001
|
|
NM_004655.4(AXIN2):c.712G>A (p.Asp238Asn)
|
rs1279069233
|
0.00001
|
|
NM_004655.4(AXIN2):c.773C>T (p.Thr258Met)
|
rs1473358053
|
0.00001
|
|
NM_004655.4(AXIN2):c.776C>T (p.Ala259Val)
|
rs1239640498
|
0.00001
|
|
NM_004655.4(AXIN2):c.788C>A (p.Ser263Tyr)
|
rs377293563
|
0.00001
|
|
NM_004655.4(AXIN2):c.7A>G (p.Ser3Gly)
|
rs762626041
|
0.00001
|
|
NM_004655.4(AXIN2):c.863G>C (p.Gly288Ala)
|
rs754388559
|
0.00001
|
|
NM_004655.4(AXIN2):c.940A>G (p.Met314Val)
|
rs778252248
|
0.00001
|
|
NM_004655.4(AXIN2):c.942G>T (p.Met314Ile)
|
rs945493883
|
0.00001
|
|
NM_004655.4(AXIN2):c.94G>A (p.Glu32Lys)
|
rs1173490917
|
0.00001
|
|
NM_004665.6(VNN2):c.450C>A (p.Asp150Glu)
|
rs864622023
|
0.00001
|
|
NM_004962.5(GDF10):c.1217C>T (p.Ala406Val)
|
rs140410142
|
0.00001
|
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
|
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)
|
rs376679438
|
0.00001
|
|
NM_005228.5(EGFR):c.116C>T (p.Thr39Met)
|
rs375919121
|
0.00001
|
|
NM_005228.5(EGFR):c.2305G>A (p.Val769Met)
|
rs147149347
|
0.00001
|
|
NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)
|
rs1028735720
|
0.00001
|
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
|
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
|
rs876659391
|
0.00001
|
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
|
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)
|
rs786201404
|
0.00001
|
|
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)
|
rs730881953
|
0.00001
|
|
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
|
rs1298113648
|
0.00001
|
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
|
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)
|
rs938821234
|
0.00001
|
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
|
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)
|
rs1207248925
|
0.00001
|
|
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser)
|
rs1018549208
|
0.00001
|
|
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)
|
rs1328988667
|
0.00001
|
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
|
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
|
rs780341646
|
0.00001
|
|
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)
|
rs1313333589
|
0.00001
|
|
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
|
rs1361284210
|
0.00001
|
|
NM_005441.3(CHAF1B):c.862A>G (p.Thr288Ala)
|
rs193921141
|
0.00001
|
|
NM_005612.5(REST):c.1639G>T (p.Val547Leu)
|
rs754696564
|
0.00001
|
|
NM_005732.4(RAD50):c.1513A>G (p.Ile505Val)
|
rs193921012
|
0.00001
|
|
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln)
|
rs369788398
|
0.00001
|
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
|
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)
|
rs761765763
|
0.00001
|
|
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser)
|
rs755090755
|
0.00001
|
|
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn)
|
rs749305408
|
0.00001
|
|
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala)
|
rs755166232
|
0.00001
|
|
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys)
|
rs770036124
|
0.00001
|
|
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)
|
rs2042187560
|
0.00001
|
|
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)
|
rs777695766
|
0.00001
|
|
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val)
|
rs184253572
|
0.00001
|
|
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr)
|
rs528752399
|
0.00001
|
|
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter)
|
rs1451513451
|
0.00001
|
|
NM_006361.6(HOXB13):c.*114C>A
|
rs1597932155
|
0.00001
|
|
NM_006361.6(HOXB13):c.167C>T (p.Ser56Leu)
|
rs1597934937
|
0.00001
|
|
NM_006361.6(HOXB13):c.246C>T (p.Tyr82=)
|
rs1597934677
|
0.00001
|
|
NM_006361.6(HOXB13):c.94C>T (p.Pro32Ser)
|
rs1597935135
|
0.00001
|
|
NM_007046.4(EMILIN1):c.197G>A (p.Arg66Gln)
|
rs753987568
|
0.00001
|
|
NM_007194.4(CHEK2):c.-9G>C
|
rs1489154308
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-6G>A
|
rs775593362
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
|
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His)
|
rs374660293
|
0.00001
|
|
NM_007194.4(CHEK2):c.1019A>G (p.Glu340Gly)
|
rs747655283
|
0.00001
|
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
|
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val)
|
rs141502354
|
0.00001
|
|
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met)
|
rs202051128
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
|
NM_007194.4(CHEK2):c.1042T>G (p.Leu348Val)
|
rs2052611352
|
0.00001
|
|
NM_007194.4(CHEK2):c.1043T>C (p.Leu348Ser)
|
rs878854908
|
0.00001
|
|
NM_007194.4(CHEK2):c.1046A>G (p.Lys349Arg)
|
rs1235802399
|
0.00001
|
|
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala)
|
rs786202893
|
0.00001
|
|
NM_007194.4(CHEK2):c.1054A>G (p.Asn352Asp)
|
rs1361935182
|
0.00001
|
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His)
|
rs199859140
|
0.00001
|
|
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg)
|
rs1064793339
|
0.00001
|
|
NM_007194.4(CHEK2):c.1095G>C (p.Lys365Asn)
|
rs1601726502
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
|
NM_007194.4(CHEK2):c.1098T>G (p.Ile366Met)
|
rs876659635
|
0.00001
|
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
|
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr)
|
rs145324174
|
0.00001
|
|
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser)
|
rs587780168
|
0.00001
|
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp)
|
rs786202164
|
0.00001
|
|
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val)
|
rs886041172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
0.00001
|
|
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)
|
rs527878975
|
0.00001
|
|
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp)
|
rs1342820782
|
0.00001
|
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
|
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr)
|
rs758206293
|
0.00001
|
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
|
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His)
|
rs766191039
|
0.00001
|
|
NM_007194.4(CHEK2):c.1226A>T (p.Asp409Val)
|
rs761095543
|
0.00001
|
|
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys)
|
rs1064796572
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1273C>T (p.Pro425Ser)
|
rs1423670346
|
0.00001
|
|
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro)
|
rs1182200321
|
0.00001
|
|
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly)
|
rs1064793470
|
0.00001
|
|
NM_007194.4(CHEK2):c.1316A>G (p.Gln439Arg)
|
rs1467664274
|
0.00001
|
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
|
NM_007194.4(CHEK2):c.1325G>A (p.Ser442Asn)
|
rs779383555
|
0.00001
|
|
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His)
|
rs587778194
|
0.00001
|
|
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala)
|
rs139088611
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.1361A>G (p.Glu454Gly)
|
rs1233346197
|
0.00001
|
|
NM_007194.4(CHEK2):c.1367C>T (p.Ser456Leu)
|
rs876659827
|
0.00001
|
|
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu)
|
rs1601852941
|
0.00001
|
|
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro)
|
rs769729382
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
|
NM_007194.4(CHEK2):c.137T>G (p.Met46Arg)
|
rs1555932504
|
0.00001
|
|
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg)
|
rs529571124
|
0.00001
|
|
NM_007194.4(CHEK2):c.1409A>G (p.Asp470Gly)
|
rs1483112470
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr)
|
rs773600515
|
0.00001
|
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
0.00001
|
|
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr)
|
rs548850521
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-12A>G
|
rs1339529482
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
|
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys)
|
rs730881694
|
0.00001
|
|
NM_007194.4(CHEK2):c.1482G>T (p.Lys494Asn)
|
rs767043399
|
0.00001
|
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1503G>T (p.Glu501Asp)
|
rs1060502721
|
0.00001
|
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.1542+6C>T
|
rs1414780425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1547C>G (p.Ser516Cys)
|
rs1601698243
|
0.00001
|
|
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly)
|
rs753560465
|
0.00001
|
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
0.00001
|
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
|
NM_007194.4(CHEK2):c.1609G>A (p.Ala537Thr)
|
rs1175957439
|
0.00001
|
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
|
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
|
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg)
|
rs864622684
|
0.00001
|
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
0.00001
|
|
NM_007194.4(CHEK2):c.208G>A (p.Glu70Lys)
|
rs878854917
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
|
NM_007194.4(CHEK2):c.253C>T (p.Pro85Ser)
|
rs1366081066
|
0.00001
|
|
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu)
|
rs758792132
|
0.00001
|
|
NM_007194.4(CHEK2):c.280G>A (p.Ala94Thr)
|
rs753860983
|
0.00001
|
|
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr)
|
rs1300016035
|
0.00001
|
|
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu)
|
rs587781669
|
0.00001
|
|
NM_007194.4(CHEK2):c.315T>A (p.Asn105Lys)
|
rs1555932027
|
0.00001
|
|
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)
|
rs775320614
|
0.00001
|
|
NM_007194.4(CHEK2):c.322T>A (p.Cys108Ser)
|
rs730881681
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
|
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys)
|
rs587781982
|
0.00001
|
|
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu)
|
rs757340619
|
0.00001
|
|
NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg)
|
rs373648967
|
0.00001
|
|
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
|
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu)
|
rs587781879
|
0.00001
|
|
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu)
|
rs1275395933
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+5G>A
|
rs189961251
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+6T>C
|
rs1060502720
|
0.00001
|
|
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly)
|
rs786203794
|
0.00001
|
|
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys)
|
rs587781377
|
0.00001
|
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser)
|
rs587782413
|
0.00001
|
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
|
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu)
|
rs876659233
|
0.00001
|
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
|
NM_007194.4(CHEK2):c.545C>A (p.Pro182His)
|
rs372168051
|
0.00001
|
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
|
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)
|
rs786203483
|
0.00001
|
|
NM_007194.4(CHEK2):c.575C>T (p.Ser192Leu)
|
rs899211928
|
0.00001
|
|
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro)
|
rs766599514
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
|
NM_007194.4(CHEK2):c.616G>A (p.Val206Ile)
|
rs876659871
|
0.00001
|
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
|
NM_007194.4(CHEK2):c.62C>T (p.Pro21Leu)
|
rs1569171601
|
0.00001
|
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
|
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
|
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val)
|
rs778212685
|
0.00001
|
|
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr)
|
rs1555921335
|
0.00001
|
|
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg)
|
rs587782419
|
0.00001
|
|
NM_007194.4(CHEK2):c.716A>G (p.Glu239Gly)
|
rs763892124
|
0.00001
|
|
NM_007194.4(CHEK2):c.723A>C (p.Lys241Asn)
|
rs1023861689
|
0.00001
|
|
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg)
|
rs587778193
|
0.00001
|
|
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile)
|
rs142243299
|
0.00001
|
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
|
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln)
|
rs730881686
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
|
NM_007194.4(CHEK2):c.793G>C (p.Asp265His)
|
rs1064793689
|
0.00001
|
|
NM_007194.4(CHEK2):c.817G>C (p.Glu273Gln)
|
rs587782152
|
0.00001
|
|
NM_007194.4(CHEK2):c.818A>C (p.Glu273Ala)
|
rs755666375
|
0.00001
|
|
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln)
|
rs749963436
|
0.00001
|
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+3A>G
|
rs1476026799
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+5G>A
|
rs764394796
|
0.00001
|
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
|
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met)
|
rs756692505
|
0.00001
|
|
NM_007194.4(CHEK2):c.875T>C (p.Phe292Ser)
|
rs2052979739
|
0.00001
|
|
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr)
|
rs876659553
|
0.00001
|
|
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln)
|
rs779607427
|
0.00001
|
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
|
NM_007194.4(CHEK2):c.908T>C (p.Leu303Ser)
|
rs1233699096
|
0.00001
|
|
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe)
|
rs786202256
|
0.00001
|
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
|
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile)
|
rs1156943614
|
0.00001
|
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
|
NM_007194.4(CHEK2):c.916G>C (p.Gly306Arg)
|
rs587783051
|
0.00001
|
|
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu)
|
rs1064795532
|
0.00001
|
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
|
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met)
|
rs767656411
|
0.00001
|
|
NM_007294.4(BRCA1):c.-44C>T
|
rs1262271602
|
0.00001
|
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
|
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)
|
rs879254130
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
|
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)
|
rs753286589
|
0.00001
|
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
|
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)
|
rs398122676
|
0.00001
|
|
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)
|
rs273900713
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
|
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala)
|
rs576828558
|
0.00001
|
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)
|
rs587781768
|
0.00001
|
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
|
NM_007294.4(BRCA1):c.4484+15T>C
|
rs760275914
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.4987-11T>C
|
rs80358170
|
0.00001
|
|
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)
|
rs587782747
|
0.00001
|
|
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)
|
rs587781761
|
0.00001
|
|
NM_007294.4(BRCA1):c.548-15G>A
|
rs755221482
|
0.00001
|
|
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)
|
rs80357183
|
0.00001
|
|
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)
|
rs273902779
|
0.00001
|
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
|
NM_007294.4(BRCA1):c.810T>C (p.His270=)
|
rs778359104
|
0.00001
|
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
|
NM_007335.4(DLEC1):c.865C>A (p.Pro289Thr)
|
rs776704507
|
0.00001
|
|
NM_014215.3(INSRR):c.3537dup (p.Val1180fs)
|
rs761392074
|
0.00001
|
|
NM_014649.3(SAFB2):c.1367C>T (p.Ser456Leu)
|
rs193920906
|
0.00001
|
|
NM_014766.5(SCRN1):c.1223C>T (p.Thr408Met)
|
rs193920979
|
0.00001
|
|
NM_014766.5(SCRN1):c.178G>A (p.Asp60Asn)
|
rs864622024
|
0.00001
|
|
NM_015297.3(PHF24):c.242G>A (p.Arg81Gln)
|
rs374394658
|
0.00001
|
|
NM_015419.4(MXRA5):c.5788G>A (p.Ala1930Thr)
|
rs193920874
|
0.00001
|
|
NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile)
|
rs193921029
|
0.00001
|
|
NM_016179.4(TRPC4):c.523C>T (p.Arg175Cys)
|
rs193920981
|
0.00001
|
|
NM_016247.4(IMPG2):c.1265C>T (p.Pro422Leu)
|
rs193920760
|
0.00001
|
|
NM_016281.4(TAOK3):c.512T>C (p.Met171Thr)
|
rs864622030
|
0.00001
|
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
|
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter)
|
rs771831816
|
0.00001
|
|
NM_017763.6(RNF43):c.1165C>T (p.Arg389Cys)
|
rs747686258
|
0.00001
|
|
NM_017763.6(RNF43):c.1360C>T (p.Arg454Cys)
|
rs1055597951
|
0.00001
|
|
NM_017763.6(RNF43):c.1474G>A (p.Gly492Ser)
|
rs139561147
|
0.00001
|
|
NM_017763.6(RNF43):c.1654C>T (p.Arg552Cys)
|
rs746033324
|
0.00001
|
|
NM_017763.6(RNF43):c.1675A>C (p.Lys559Gln)
|
rs777723421
|
0.00001
|
|
NM_017763.6(RNF43):c.1735A>G (p.Arg579Gly)
|
rs745916751
|
0.00001
|
|
NM_017763.6(RNF43):c.1820C>T (p.Ser607Leu)
|
rs200066146
|
0.00001
|
|
NM_017763.6(RNF43):c.673C>T (p.Arg225Cys)
|
rs765548407
|
0.00001
|
|
NM_017763.6(RNF43):c.787G>A (p.Gly263Arg)
|
rs201914846
|
0.00001
|
|
NM_017763.6(RNF43):c.80G>A (p.Arg27His)
|
rs368379005
|
0.00001
|
|
NM_017763.6(RNF43):c.833A>T (p.Glu278Val)
|
rs772730824
|
0.00001
|
|
NM_017763.6(RNF43):c.985T>C (p.Ser329Pro)
|
rs1326711195
|
0.00001
|
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
|
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)
|
rs762657413
|
0.00001
|
|
NM_019040.5(ELP4):c.*1404G>C
|
rs748381549
|
0.00001
|
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
|
NM_020856.4(TSHZ3):c.1181C>T (p.Ser394Leu)
|
rs193921027
|
0.00001
|
|
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)
|
rs144981275
|
0.00001
|
|
NM_020975.6(RET):c.1030G>A (p.Gly344Ser)
|
rs749883001
|
0.00001
|
|
NM_020975.6(RET):c.1042C>T (p.Arg348Trp)
|
rs1183365192
|
0.00001
|
|
NM_020975.6(RET):c.1046C>T (p.Ala349Val)
|
rs754859905
|
0.00001
|
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
|
NM_020975.6(RET):c.1052T>A (p.Val351Glu)
|
rs749449032
|
0.00001
|
|
NM_020975.6(RET):c.1078C>A (p.Arg360=)
|
rs1424549058
|
0.00001
|
|
NM_020975.6(RET):c.1079G>A (p.Arg360Gln)
|
rs762472027
|
0.00001
|
|
NM_020975.6(RET):c.1090A>G (p.Ile364Val)
|
rs1308447836
|
0.00001
|
|
NM_020975.6(RET):c.109T>C (p.Trp37Arg)
|
rs777042445
|
0.00001
|
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
|
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)
|
rs1394361948
|
0.00001
|
|
NM_020975.6(RET):c.1151C>G (p.Pro384Arg)
|
rs771679592
|
0.00001
|
|
NM_020975.6(RET):c.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
|
NM_020975.6(RET):c.1163T>C (p.Val388Ala)
|
rs751939820
|
0.00001
|
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
|
NM_020975.6(RET):c.1183G>A (p.Val395Met)
|
rs1452469572
|
0.00001
|
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
|
NM_020975.6(RET):c.1216A>G (p.Ser406Gly)
|
rs756532455
|
0.00001
|
|
NM_020975.6(RET):c.1220C>T (p.Thr407Ile)
|
rs1837858286
|
0.00001
|
|
NM_020975.6(RET):c.1222T>A (p.Tyr408Asn)
|
rs778754580
|
0.00001
|
|
NM_020975.6(RET):c.1234G>A (p.Val412Met)
|
rs746970700
|
0.00001
|
|
NM_020975.6(RET):c.1249C>T (p.Arg417Cys)
|
rs1478152005
|
0.00001
|
|
NM_020975.6(RET):c.125T>C (p.Val42Ala)
|
rs773375434
|
0.00001
|
|
NM_020975.6(RET):c.1264-6C>A
|
rs1255010070
|
0.00001
|
|
NM_020975.6(RET):c.1271A>G (p.Lys424Arg)
|
rs1176090269
|
0.00001
|
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
|
NM_020975.6(RET):c.1282G>A (p.Glu428Lys)
|
rs1327111345
|
0.00001
|
|
NM_020975.6(RET):c.1287C>A (p.Asn429Lys)
|
rs1324777252
|
0.00001
|
|
NM_020975.6(RET):c.1289G>A (p.Cys430Tyr)
|
rs1837913861
|
0.00001
|
|
NM_020975.6(RET):c.129C>A (p.Asp43Glu)
|
rs1488040686
|
0.00001
|
|
NM_020975.6(RET):c.1305C>T (p.Gly435=)
|
rs749093977
|
0.00001
|
|
NM_020975.6(RET):c.1306A>G (p.Ile436Val)
|
rs770736612
|
0.00001
|
|
NM_020975.6(RET):c.1352C>T (p.Thr451Met)
|
rs774092678
|
0.00001
|
|
NM_020975.6(RET):c.1364T>C (p.Val455Ala)
|
rs752267460
|
0.00001
|
|
NM_020975.6(RET):c.1367C>T (p.Thr456Ile)
|
rs1286634866
|
0.00001
|
|
NM_020975.6(RET):c.139G>A (p.Gly47Ser)
|
rs529018971
|
0.00001
|
|
NM_020975.6(RET):c.1421G>A (p.Arg474Gln)
|
rs747139265
|
0.00001
|
|
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)
|
rs763296134
|
0.00001
|
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
|
NM_020975.6(RET):c.1453G>A (p.Val485Met)
|
rs1837922208
|
0.00001
|
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
|
NM_020975.6(RET):c.1463C>T (p.Thr488Ile)
|
rs1218693745
|
0.00001
|
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
|
NM_020975.6(RET):c.1504G>A (p.Val502Ile)
|
rs770395347
|
0.00001
|
|
NM_020975.6(RET):c.1522T>C (p.Tyr508His)
|
rs775152474
|
0.00001
|
|
NM_020975.6(RET):c.1538C>G (p.Ala513Gly)
|
rs149238501
|
0.00001
|
|
NM_020975.6(RET):c.1566C>T (p.Ser522=)
|
rs929663686
|
0.00001
|
|
NM_020975.6(RET):c.1574G>A (p.Arg525Gln)
|
rs752830820
|
0.00001
|
|
NM_020975.6(RET):c.157G>A (p.Val53Ile)
|
rs547308774
|
0.00001
|
|
NM_020975.6(RET):c.1588G>C (p.Glu530Gln)
|
rs1372959588
|
0.00001
|
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
|
NM_020975.6(RET):c.1613C>G (p.Thr538Arg)
|
rs148406803
|
0.00001
|
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
|
NM_020975.6(RET):c.1649G>A (p.Gly550Glu)
|
rs747844360
|
0.00001
|
|
NM_020975.6(RET):c.1681A>C (p.Ser561Arg)
|
rs201972250
|
0.00001
|
|
NM_020975.6(RET):c.1682G>C (p.Ser561Thr)
|
rs1161678851
|
0.00001
|
|
NM_020975.6(RET):c.1683C>A (p.Ser561Arg)
|
rs1837973045
|
0.00001
|
|
NM_020975.6(RET):c.1706A>G (p.His569Arg)
|
rs765256156
|
0.00001
|
|
NM_020975.6(RET):c.170G>A (p.Arg57Gln)
|
rs779915615
|
0.00001
|
|
NM_020975.6(RET):c.1711G>A (p.Asp571Asn)
|
rs750958377
|
0.00001
|
|
NM_020975.6(RET):c.1727A>G (p.Gln576Arg)
|
rs1284377464
|
0.00001
|
|
NM_020975.6(RET):c.1756C>T (p.Leu586Phe)
|
rs777604634
|
0.00001
|
|
NM_020975.6(RET):c.1759C>T (p.Arg587Trp)
|
rs748905470
|
0.00001
|
|
NM_020975.6(RET):c.1760-3C>T
|
rs587781734
|
0.00001
|
|
NM_020975.6(RET):c.1768A>G (p.Ile590Val)
|
rs1307072968
|
0.00001
|
|
NM_020975.6(RET):c.1796C>A (p.Pro599His)
|
rs1468422135
|
0.00001
|
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
|
NM_020975.6(RET):c.1811C>T (p.Ala604Val)
|
rs1286776938
|
0.00001
|
|
NM_020975.6(RET):c.1816T>C (p.Tyr606His)
|
rs199921511
|
0.00001
|
|
NM_020975.6(RET):c.1840G>A (p.Glu614Lys)
|
rs769971379
|
0.00001
|
|
NM_020975.6(RET):c.1871A>G (p.Asp624Gly)
|
rs1224456563
|
0.00001
|
|
NM_020975.6(RET):c.1880-12C>G
|
rs374893494
|
0.00001
|
|
NM_020975.6(RET):c.1882C>T (p.Pro628Ser)
|
rs754466051
|
0.00001
|
|
NM_020975.6(RET):c.1903C>T (p.Arg635Cys)
|
rs377767410
|
0.00001
|
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
|
NM_020975.6(RET):c.1907C>T (p.Thr636Met)
|
rs1035958105
|
0.00001
|
|
NM_020975.6(RET):c.1910T>G (p.Val637Gly)
|
rs1713933379
|
0.00001
|
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
|
NM_020975.6(RET):c.1918G>A (p.Ala640Thr)
|
rs1224994492
|
0.00001
|
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
|
NM_020975.6(RET):c.1958C>G (p.Ser653Cys)
|
rs753724503
|
0.00001
|
|
NM_020975.6(RET):c.1973A>G (p.His658Arg)
|
rs1274484329
|
0.00001
|
|
NM_020975.6(RET):c.1996A>C (p.Lys666Gln)
|
rs143795581
|
0.00001
|
|
NM_020975.6(RET):c.199C>T (p.Arg67Cys)
|
rs749390385
|
0.00001
|
|
NM_020975.6(RET):c.19G>A (p.Gly7Ser)
|
rs1257661718
|
0.00001
|
|
NM_020975.6(RET):c.2005A>G (p.Ile669Val)
|
rs776986585
|
0.00001
|
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
|
NM_020975.6(RET):c.2051C>T (p.Pro684Leu)
|
rs760088950
|
0.00001
|
|
NM_020975.6(RET):c.2063C>T (p.Ser688Phe)
|
rs1588874330
|
0.00001
|
|
NM_020975.6(RET):c.2066C>T (p.Ser689Phe)
|
rs989429215
|
0.00001
|
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
|
NM_020975.6(RET):c.2090T>A (p.Leu697Gln)
|
rs1293039001
|
0.00001
|
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
|
NM_020975.6(RET):c.2115C>T (p.Ser705=)
|
rs1247902894
|
0.00001
|
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
|
NM_020975.6(RET):c.2158C>T (p.Pro720Ser)
|
rs1060500753
|
0.00001
|
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
|
NM_020975.6(RET):c.2164A>G (p.Lys722Glu)
|
rs1262183810
|
0.00001
|
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
|
NM_020975.6(RET):c.2222C>G (p.Ala741Gly)
|
rs761397627
|
0.00001
|
|
NM_020975.6(RET):c.2232C>G (p.Phe744Leu)
|
rs766035127
|
0.00001
|
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
|
NM_020975.6(RET):c.2237T>C (p.Leu746Pro)
|
rs755085530
|
0.00001
|
|
NM_020975.6(RET):c.2243G>A (p.Gly748Asp)
|
rs1314127008
|
0.00001
|
|
NM_020975.6(RET):c.2245A>G (p.Arg749Gly)
|
rs1210164099
|
0.00001
|
|
NM_020975.6(RET):c.2249C>G (p.Ala750Gly)
|
rs752830000
|
0.00001
|
|
NM_020975.6(RET):c.2284+6_2284+7del
|
rs1163200373
|
0.00001
|
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
0.00001
|
|
NM_020975.6(RET):c.2288A>T (p.Asn763Ile)
|
rs199882293
|
0.00001
|
|
NM_020975.6(RET):c.2294C>T (p.Ser765Phe)
|
rs1442097853
|
0.00001
|
|
NM_020975.6(RET):c.235C>T (p.Arg79Trp)
|
rs537523906
|
0.00001
|
|
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)
|
rs1352006130
|
0.00001
|
|
NM_020975.6(RET):c.236G>A (p.Arg79Gln)
|
rs1318325737
|
0.00001
|
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
|
NM_020975.6(RET):c.2412G>A (p.Val804=)
|
rs767045208
|
0.00001
|
|
NM_020975.6(RET):c.2422A>G (p.Lys808Glu)
|
rs1372786615
|
0.00001
|
|
NM_020975.6(RET):c.2437C>T (p.Arg813Trp)
|
rs779996040
|
0.00001
|
|
NM_020975.6(RET):c.2438G>A (p.Arg813Gln)
|
rs1318733775
|
0.00001
|
|
NM_020975.6(RET):c.2485A>G (p.Ser829Gly)
|
rs113005278
|
0.00001
|
|
NM_020975.6(RET):c.2486G>C (p.Ser829Thr)
|
rs943720843
|
0.00001
|
|
NM_020975.6(RET):c.2491G>A (p.Gly831Ser)
|
rs775981129
|
0.00001
|
|
NM_020975.6(RET):c.2496C>G (p.Ser832Arg)
|
rs764979358
|
0.00001
|
|
NM_020975.6(RET):c.2544G>A (p.Met848Ile)
|
rs772684105
|
0.00001
|
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
|
NM_020975.6(RET):c.2548G>A (p.Asp850Asn)
|
rs772862503
|
0.00001
|
|
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr)
|
rs772862503
|
0.00001
|
|
NM_020975.6(RET):c.2558C>T (p.Ser853Leu)
|
rs1406662248
|
0.00001
|
|
NM_020975.6(RET):c.2583G>T (p.Gly861=)
|
rs146628741
|
0.00001
|
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
|
NM_020975.6(RET):c.2683T>A (p.Leu895Met)
|
rs761720362
|
0.00001
|
|
NM_020975.6(RET):c.2728C>G (p.Gln910Glu)
|
rs1282729859
|
0.00001
|
|
NM_020975.6(RET):c.2735G>T (p.Arg912Leu)
|
rs78347871
|
0.00001
|
|
NM_020975.6(RET):c.2754G>A (p.Met918Ile)
|
rs753208054
|
0.00001
|
|
NM_020975.6(RET):c.2758A>G (p.Ile920Val)
|
rs527787676
|
0.00001
|
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
|
NM_020975.6(RET):c.2801+9G>A
|
rs780912886
|
0.00001
|
|
NM_020975.6(RET):c.2802-7T>A
|
rs1838266905
|
0.00001
|
|
NM_020975.6(RET):c.2815G>A (p.Val939Ile)
|
rs1554819950
|
0.00001
|
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
|
NM_020975.6(RET):c.2887C>A (p.Leu963Ile)
|
rs864622603
|
0.00001
|
|
NM_020975.6(RET):c.2897C>T (p.Thr966Ile)
|
rs760765930
|
0.00001
|
|
NM_020975.6(RET):c.2915G>A (p.Arg972Lys)
|
rs1384605415
|
0.00001
|
|
NM_020975.6(RET):c.2936A>G (p.Glu979Gly)
|
rs752352085
|
0.00001
|
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
|
NM_020975.6(RET):c.2973G>C (p.Glu991Asp)
|
rs1351903863
|
0.00001
|
|
NM_020975.6(RET):c.2979C>G (p.Asp993Glu)
|
rs1368893442
|
0.00001
|
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
|
NM_020975.6(RET):c.2989G>C (p.Val997Leu)
|
rs781236624
|
0.00001
|
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
|
NM_020975.6(RET):c.3020A>C (p.Lys1007Thr)
|
rs759798237
|
0.00001
|
|
NM_020975.6(RET):c.3027G>A (p.Met1009Ile)
|
rs1007307889
|
0.00001
|
|
NM_020975.6(RET):c.3040G>A (p.Asp1014Asn)
|
rs1371047639
|
0.00001
|
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
|
NM_020975.6(RET):c.3051C>G (p.Asp1017Glu)
|
rs993057046
|
0.00001
|
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
|
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn)
|
rs200989078
|
0.00001
|
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
|
NM_020975.6(RET):c.312C>A (p.Ser104Arg)
|
rs746378333
|
0.00001
|
|
NM_020975.6(RET):c.3131A>G (p.Asn1044Ser)
|
rs772807570
|
0.00001
|
|
NM_020975.6(RET):c.3139C>T (p.Pro1047Ser)
|
rs369152977
|
0.00001
|
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
|
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly)
|
rs767479170
|
0.00001
|
|
NM_020975.6(RET):c.3165A>G (p.Thr1055=)
|
rs200289472
|
0.00001
|
|
NM_020975.6(RET):c.3166T>A (p.Trp1056Arg)
|
rs373423271
|
0.00001
|
|
NM_020975.6(RET):c.3166T>C (p.Trp1056Arg)
|
rs373423271
|
0.00001
|
|
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)
|
rs569004816
|
0.00001
|
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
|
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)
|
rs370756353
|
0.00001
|
|
NM_020975.6(RET):c.3184T>C (p.Tyr1062His)
|
rs138010639
|
0.00001
|
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
|
NM_020975.6(RET):c.3196G>C (p.Asp1066His)
|
rs180700967
|
0.00001
|
|
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)
|
rs776615468
|
0.00001
|
|
NM_020975.6(RET):c.324G>C (p.Lys108Asn)
|
rs775974393
|
0.00001
|
|
NM_020975.6(RET):c.3256G>A (p.Gly1086Arg)
|
rs778452896
|
0.00001
|
|
NM_020975.6(RET):c.3280A>G (p.Ser1094Gly)
|
rs1171787901
|
0.00001
|
|
NM_020975.6(RET):c.3281G>A (p.Ser1094Asn)
|
rs1198591686
|
0.00001
|
|
NM_020975.6(RET):c.3287A>G (p.Tyr1096Cys)
|
rs768752146
|
0.00001
|
|
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro)
|
rs1305555370
|
0.00001
|
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
|
NM_020975.6(RET):c.3317C>G (p.Ala1106Gly)
|
rs1338777037
|
0.00001
|
|
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)
|
rs587780813
|
0.00001
|
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
|
NM_020975.6(RET):c.340C>T (p.Arg114Cys)
|
rs747483905
|
0.00001
|
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
|
NM_020975.6(RET):c.361G>A (p.Val121Ile)
|
rs770548816
|
0.00001
|
|
NM_020975.6(RET):c.391T>C (p.Ser131Pro)
|
rs375576038
|
0.00001
|
|
NM_020975.6(RET):c.397C>T (p.Arg133Cys)
|
rs1564490056
|
0.00001
|
|
NM_020975.6(RET):c.430C>T (p.Arg144Cys)
|
rs1588863984
|
0.00001
|
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
|
NM_020975.6(RET):c.451A>G (p.Asn151Asp)
|
rs1837661067
|
0.00001
|
|
NM_020975.6(RET):c.464C>A (p.Pro155Gln)
|
rs999019810
|
0.00001
|
|
NM_020975.6(RET):c.473G>A (p.Ser158Asn)
|
rs780067540
|
0.00001
|
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
|
NM_020975.6(RET):c.528T>G (p.Ile176Met)
|
rs556686338
|
0.00001
|
|
NM_020975.6(RET):c.530G>A (p.Arg177Gln)
|
rs759229505
|
0.00001
|
|
NM_020975.6(RET):c.544C>A (p.Pro182Thr)
|
rs775086466
|
0.00001
|
|
NM_020975.6(RET):c.547G>A (p.Gly183Ser)
|
rs1060500760
|
0.00001
|
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
|
NM_020975.6(RET):c.565C>G (p.Arg189Gly)
|
rs1210452561
|
0.00001
|
|
NM_020975.6(RET):c.59C>A (p.Pro20Gln)
|
rs1837067697
|
0.00001
|
|
NM_020975.6(RET):c.602G>C (p.Ser201Thr)
|
rs898525501
|
0.00001
|
|
NM_020975.6(RET):c.607G>A (p.Ala203Thr)
|
rs755007607
|
0.00001
|
|
NM_020975.6(RET):c.625G>A (p.Gly209Ser)
|
rs1407201816
|
0.00001
|
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
|
NM_020975.6(RET):c.658A>T (p.Ser220Cys)
|
rs1484566321
|
0.00001
|
|
NM_020975.6(RET):c.667G>A (p.Val223Met)
|
rs587780815
|
0.00001
|
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
|
NM_020975.6(RET):c.686T>C (p.Leu229Pro)
|
rs767654905
|
0.00001
|
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
|
NM_020975.6(RET):c.722C>T (p.Ala241Val)
|
rs1178140696
|
0.00001
|
|
NM_020975.6(RET):c.743G>C (p.Gly248Ala)
|
rs749189193
|
0.00001
|
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
|
NM_020975.6(RET):c.776C>T (p.Pro259Leu)
|
rs759812068
|
0.00001
|
|
NM_020975.6(RET):c.812C>T (p.Thr271Ile)
|
rs1361019662
|
0.00001
|
|
NM_020975.6(RET):c.829G>A (p.Asp277Asn)
|
rs1027662469
|
0.00001
|
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
|
NM_020975.6(RET):c.835G>A (p.Ala279Thr)
|
rs777221273
|
0.00001
|
|
NM_020975.6(RET):c.884C>T (p.Thr295Met)
|
rs758159521
|
0.00001
|
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
|
NM_020975.6(RET):c.895T>G (p.Phe299Val)
|
rs1837776769
|
0.00001
|
|
NM_020975.6(RET):c.937C>T (p.Arg313Trp)
|
rs1057521089
|
0.00001
|
|
NM_020975.6(RET):c.943A>C (p.Thr315Pro)
|
rs774637214
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
|
NM_022163.4(MRPL46):c.289C>T (p.Arg97Ter)
|
rs193920884
|
0.00001
|
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
|
NM_022785.4(EFCAB6):c.314C>T (p.Pro105Leu)
|
rs193920984
|
0.00001
|
|
NM_024012.4(HTR5A):c.79G>C (p.Asp27His)
|
rs193920930
|
0.00001
|
|
NM_024426.6(WT1):c.*1066T>G
|
rs936717004
|
0.00001
|
|
NM_024426.6(WT1):c.*611C>T
|
rs886048220
|
0.00001
|
|
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)
|
rs748112905
|
0.00001
|
|
NM_024426.6(WT1):c.1016+4A>C
|
rs776489080
|
0.00001
|
|
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys)
|
rs547783372
|
0.00001
|
|
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro)
|
rs1362066206
|
0.00001
|
|
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp)
|
rs769934402
|
0.00001
|
|
NM_024426.6(WT1):c.109G>A (p.Gly37Arg)
|
rs1397886023
|
0.00001
|
|
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)
|
rs150194429
|
0.00001
|
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
|
NM_024426.6(WT1):c.1113+5G>A
|
rs930795675
|
0.00001
|
|
NM_024426.6(WT1):c.1114-7C>A
|
rs1396821797
|
0.00001
|
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
|
NM_024426.6(WT1):c.112G>C (p.Val38Leu)
|
rs1229949294
|
0.00001
|
|
NM_024426.6(WT1):c.1135G>A (p.Val379Ile)
|
rs755936509
|
0.00001
|
|
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp)
|
rs765218093
|
0.00001
|
|
NM_024426.6(WT1):c.116G>A (p.Arg39Gln)
|
rs1590411426
|
0.00001
|
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
|
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)
|
rs1060501258
|
0.00001
|
|
NM_024426.6(WT1):c.1210A>C (p.Asn404His)
|
rs774976881
|
0.00001
|
|
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)
|
rs748864758
|
0.00001
|
|
NM_024426.6(WT1):c.122C>T (p.Pro41Leu)
|
rs773550149
|
0.00001
|
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
|
NM_024426.6(WT1):c.133T>C (p.Trp45Arg)
|
rs1186470250
|
0.00001
|
|
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu)
|
rs533043871
|
0.00001
|
|
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)
|
rs139893274
|
0.00001
|
|
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly)
|
rs776256676
|
0.00001
|
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
|
NM_024426.6(WT1):c.149C>A (p.Ala50Asp)
|
rs967658170
|
0.00001
|
|
NM_024426.6(WT1):c.1513G>C (p.Val505Leu)
|
rs1399910889
|
0.00001
|
|
NM_024426.6(WT1):c.154G>A (p.Glu52Lys)
|
rs1212035248
|
0.00001
|
|
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)
|
rs866837692
|
0.00001
|
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
|
NM_024426.6(WT1):c.172C>G (p.Leu58Val)
|
rs1412425868
|
0.00001
|
|
NM_024426.6(WT1):c.200C>G (p.Ser67Cys)
|
rs1327516147
|
0.00001
|
|
NM_024426.6(WT1):c.202G>A (p.Gly68Arg)
|
rs1353446740
|
0.00001
|
|
NM_024426.6(WT1):c.211C>A (p.Pro71Thr)
|
rs1392405207
|
0.00001
|
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
|
NM_024426.6(WT1):c.231C>A (p.Asp77Glu)
|
rs1193574882
|
0.00001
|
|
NM_024426.6(WT1):c.262G>A (p.Val88Ile)
|
rs1410971862
|
0.00001
|
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
|
NM_024426.6(WT1):c.284G>T (p.Gly95Val)
|
rs1454795891
|
0.00001
|
|
NM_024426.6(WT1):c.286G>A (p.Gly96Ser)
|
rs1060501254
|
0.00001
|
|
NM_024426.6(WT1):c.304A>G (p.Ser102Gly)
|
rs1336319420
|
0.00001
|
|
NM_024426.6(WT1):c.311C>G (p.Ala104Gly)
|
rs1044394214
|
0.00001
|
|
NM_024426.6(WT1):c.326C>G (p.Pro109Arg)
|
rs1853459569
|
0.00001
|
|
NM_024426.6(WT1):c.32C>G (p.Ser11Cys)
|
rs1412950681
|
0.00001
|
|
NM_024426.6(WT1):c.341C>A (p.Ala114Glu)
|
rs1311557029
|
0.00001
|
|
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)
|
rs764111950
|
0.00001
|
|
NM_024426.6(WT1):c.350G>A (p.Gly117Asp)
|
rs939385459
|
0.00001
|
|
NM_024426.6(WT1):c.352G>C (p.Ala118Pro)
|
rs1253163678
|
0.00001
|
|
NM_024426.6(WT1):c.355T>C (p.Ser119Pro)
|
rs1187111469
|
0.00001
|
|
NM_024426.6(WT1):c.380C>G (p.Pro127Arg)
|
rs1387576357
|
0.00001
|
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
|
NM_024426.6(WT1):c.392C>G (p.Pro131Arg)
|
rs1443423967
|
0.00001
|
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
|
NM_024426.6(WT1):c.412C>T (p.Pro138Ser)
|
rs544477985
|
0.00001
|
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
|
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)
|
rs764552529
|
0.00001
|
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
|
NM_024426.6(WT1):c.489C>A (p.Ser163Arg)
|
rs908414065
|
0.00001
|
|
NM_024426.6(WT1):c.499G>A (p.Val167Ile)
|
rs1474496518
|
0.00001
|
|
NM_024426.6(WT1):c.53C>T (p.Ala18Val)
|
rs1853481284
|
0.00001
|
|
NM_024426.6(WT1):c.566C>T (p.Pro189Leu)
|
rs745879965
|
0.00001
|
|
NM_024426.6(WT1):c.584C>G (p.Ser195Cys)
|
rs778194188
|
0.00001
|
|
NM_024426.6(WT1):c.595A>G (p.Arg199Gly)
|
rs1307678573
|
0.00001
|
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
|
NM_024426.6(WT1):c.627C>G (p.Ser209Arg)
|
rs761530541
|
0.00001
|
|
NM_024426.6(WT1):c.641A>C (p.Gln214Pro)
|
rs771024882
|
0.00001
|
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
|
NM_024426.6(WT1):c.650T>G (p.Ile217Ser)
|
rs1853431800
|
0.00001
|
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
|
NM_024426.6(WT1):c.710C>T (p.Pro237Leu)
|
rs760776653
|
0.00001
|
|
NM_024426.6(WT1):c.71G>A (p.Arg24His)
|
rs1330792627
|
0.00001
|
|
NM_024426.6(WT1):c.724G>A (p.Ala242Thr)
|
rs1590395740
|
0.00001
|
|
NM_024426.6(WT1):c.761C>T (p.Pro254Leu)
|
rs1213160959
|
0.00001
|
|
NM_024426.6(WT1):c.763A>G (p.Met255Val)
|
rs142653301
|
0.00001
|
|
NM_024426.6(WT1):c.76G>A (p.Gly26Arg)
|
rs1189241211
|
0.00001
|
|
NM_024426.6(WT1):c.771G>T (p.Gln257His)
|
rs1853140764
|
0.00001
|
|
NM_024426.6(WT1):c.77G>A (p.Gly26Glu)
|
rs1484558172
|
0.00001
|
|
NM_024426.6(WT1):c.803T>G (p.Val268Gly)
|
rs765230888
|
0.00001
|
|
NM_024426.6(WT1):c.815T>C (p.Val272Ala)
|
rs1298646630
|
0.00001
|
|
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)
|
rs773527284
|
0.00001
|
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
|
NM_024426.6(WT1):c.850G>A (p.Gly284Ser)
|
rs1271732325
|
0.00001
|
|
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)
|
rs992227366
|
0.00001
|
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
|
NM_024426.6(WT1):c.980G>A (p.Ser327Asn)
|
rs1308955642
|
0.00001
|
|
NM_024529.4(CDC73):c.-186C>G
|
rs886045710
|
0.00001
|
|
NM_024529.5(CDC73):c.*1292C>T
|
rs895043816
|
0.00001
|
|
NM_024529.5(CDC73):c.*1535A>G
|
rs1011765527
|
0.00001
|
|
NM_024529.5(CDC73):c.*1660A>G
|
rs1310867519
|
0.00001
|
|
NM_024529.5(CDC73):c.*2651T>G
|
rs886045730
|
0.00001
|
|
NM_024529.5(CDC73):c.*298A>T
|
rs1678035186
|
0.00001
|
|
NM_024529.5(CDC73):c.*3714T>C
|
rs886045737
|
0.00001
|
|
NM_024529.5(CDC73):c.*3783C>T
|
rs1337028451
|
0.00001
|
|
NM_024529.5(CDC73):c.*3785A>G
|
rs886045738
|
0.00001
|
|
NM_024529.5(CDC73):c.*3875A>G
|
rs1678100975
|
0.00001
|
|
NM_024529.5(CDC73):c.*972A>G
|
rs886045717
|
0.00001
|
|
NM_024529.5(CDC73):c.-121G>A
|
rs886045711
|
0.00001
|
|
NM_024529.5(CDC73):c.-135C>T
|
rs1675456932
|
0.00001
|
|
NM_024529.5(CDC73):c.-167A>G
|
rs1156904196
|
0.00001
|
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
|
NM_024529.5(CDC73):c.1066+5G>A
|
rs1018448425
|
0.00001
|
|
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile)
|
rs1677294864
|
0.00001
|
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
|
NM_024529.5(CDC73):c.1105A>G (p.Thr369Ala)
|
rs762532730
|
0.00001
|
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
|
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu)
|
rs587778167
|
0.00001
|
|
NM_024529.5(CDC73):c.1153A>C (p.Lys385Gln)
|
rs762203137
|
0.00001
|
|
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser)
|
rs746972930
|
0.00001
|
|
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg)
|
rs374856513
|
0.00001
|
|
NM_024529.5(CDC73):c.1234A>G (p.Met412Val)
|
rs752959843
|
0.00001
|
|
NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
|
rs780906083
|
0.00001
|
|
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val)
|
rs1198867364
|
0.00001
|
|
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr)
|
rs1553291414
|
0.00001
|
|
NM_024529.5(CDC73):c.138A>T (p.Gly46=)
|
rs1572142522
|
0.00001
|
|
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val)
|
rs1252554973
|
0.00001
|
|
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)
|
rs1678015324
|
0.00001
|
|
NM_024529.5(CDC73):c.1451G>A (p.Arg484His)
|
rs774557338
|
0.00001
|
|
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val)
|
rs761968225
|
0.00001
|
|
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)
|
rs1465509067
|
0.00001
|
|
NM_024529.5(CDC73):c.1559+4A>G
|
rs1001095861
|
0.00001
|
|
NM_024529.5(CDC73):c.1574A>G (p.His525Arg)
|
rs188778681
|
0.00001
|
|
NM_024529.5(CDC73):c.1575T>G (p.His525Gln)
|
rs1378278674
|
0.00001
|
|
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu)
|
rs767254478
|
0.00001
|
|
NM_024529.5(CDC73):c.199G>A (p.Val67Met)
|
rs748952219
|
0.00001
|
|
NM_024529.5(CDC73):c.303A>C (p.Glu101Asp)
|
rs372978307
|
0.00001
|
|
NM_024529.5(CDC73):c.322A>G (p.Ile108Val)
|
rs1475793228
|
0.00001
|
|
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)
|
rs763095800
|
0.00001
|
|
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr)
|
rs756584058
|
0.00001
|
|
NM_024529.5(CDC73):c.391G>A (p.Val131Ile)
|
rs769052041
|
0.00001
|
|
NM_024529.5(CDC73):c.416G>A (p.Arg139Gln)
|
rs1675778391
|
0.00001
|
|
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln)
|
rs1455683303
|
0.00001
|
|
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly)
|
rs776394390
|
0.00001
|
|
NM_024529.5(CDC73):c.754A>G (p.Ile252Val)
|
rs374290883
|
0.00001
|
|
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys)
|
rs878855091
|
0.00001
|
|
NM_024529.5(CDC73):c.788G>A (p.Arg263His)
|
rs1307745420
|
0.00001
|
|
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu)
|
rs1335804597
|
0.00001
|
|
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln)
|
rs750706815
|
0.00001
|
|
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg)
|
rs370333081
|
0.00001
|
|
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser)
|
rs752383339
|
0.00001
|
|
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)
|
rs758391256
|
0.00001
|
|
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
|
rs754070093
|
0.00001
|
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
|
NM_024529.5(CDC73):c.856A>G (p.Ile286Val)
|
rs1362923384
|
0.00001
|
|
NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser)
|
rs1368473544
|
0.00001
|
|
NM_024675.4(PALB2):c.1006A>C (p.Asn336His)
|
rs1060502774
|
0.00001
|
|
NM_024675.4(PALB2):c.1013C>T (p.Pro338Leu)
|
rs1316239336
|
0.00001
|
|
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)
|
rs876658656
|
0.00001
|
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
rs1202130508
|
0.00001
|
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
|
NM_024675.4(PALB2):c.108+6T>G
|
rs1567224136
|
0.00001
|
|
NM_024675.4(PALB2):c.1092C>T (p.Gly364=)
|
rs1966994380
|
0.00001
|
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
|
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)
|
rs1348407391
|
0.00001
|
|
NM_024675.4(PALB2):c.1111G>A (p.Glu371Lys)
|
rs1312378621
|
0.00001
|
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
rs371875379
|
0.00001
|
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
|
NM_024675.4(PALB2):c.1169C>T (p.Ser390Phe)
|
rs1555461425
|
0.00001
|
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
|
NM_024675.4(PALB2):c.1181A>T (p.His394Leu)
|
rs762430363
|
0.00001
|
|
NM_024675.4(PALB2):c.1184C>G (p.Ser395Cys)
|
rs764796329
|
0.00001
|
|
NM_024675.4(PALB2):c.1192G>A (p.Val398Met)
|
rs769097541
|
0.00001
|
|
NM_024675.4(PALB2):c.119G>A (p.Arg40Lys)
|
rs573118236
|
0.00001
|
|
NM_024675.4(PALB2):c.1202G>T (p.Gly401Val)
|
rs1462655583
|
0.00001
|
|
NM_024675.4(PALB2):c.1210T>C (p.Phe404Leu)
|
rs1064793221
|
0.00001
|
|
NM_024675.4(PALB2):c.1212T>G (p.Phe404Leu)
|
rs148921082
|
0.00001
|
|
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln)
|
rs749461008
|
0.00001
|
|
NM_024675.4(PALB2):c.1246A>G (p.Met416Val)
|
rs1966982055
|
0.00001
|
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
|
NM_024675.4(PALB2):c.1351T>G (p.Leu451Val)
|
rs772691867
|
0.00001
|
|
NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe)
|
rs587782842
|
0.00001
|
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
|
NM_024675.4(PALB2):c.137A>G (p.His46Arg)
|
rs1290624507
|
0.00001
|
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
|
NM_024675.4(PALB2):c.1395G>A (p.Met465Ile)
|
rs746805049
|
0.00001
|
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
|
NM_024675.4(PALB2):c.1418C>T (p.Pro473Leu)
|
rs1288887287
|
0.00001
|
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
|
NM_024675.4(PALB2):c.1448C>T (p.Ser483Leu)
|
rs1057520736
|
0.00001
|
|
NM_024675.4(PALB2):c.1462A>G (p.Ser488Gly)
|
rs753124503
|
0.00001
|
|
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala)
|
rs878855101
|
0.00001
|
|
NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys)
|
rs374707677
|
0.00001
|
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
|
NM_024675.4(PALB2):c.1534T>A (p.Tyr512Asn)
|
rs1966959567
|
0.00001
|
|
NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile)
|
rs778890869
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.1553C>T (p.Ser518Leu)
|
rs1060502805
|
0.00001
|
|
NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp)
|
rs1340452845
|
0.00001
|
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
|
NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu)
|
rs770908238
|
0.00001
|
|
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)
|
rs370468259
|
0.00001
|
|
NM_024675.4(PALB2):c.1655A>G (p.Gln552Arg)
|
rs375611746
|
0.00001
|
|
NM_024675.4(PALB2):c.1658A>G (p.His553Arg)
|
rs1482172344
|
0.00001
|
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
rs370318597
|
0.00001
|
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
|
NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg)
|
rs62625276
|
0.00001
|
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe)
|
rs757397623
|
0.00001
|
|
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)
|
rs1214293842
|
0.00001
|
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
|
NM_024675.4(PALB2):c.1742T>C (p.Leu581Ser)
|
rs1060502755
|
0.00001
|
|
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)
|
rs1060502733
|
0.00001
|
|
NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala)
|
rs1437053825
|
0.00001
|
|
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln)
|
rs761773470
|
0.00001
|
|
NM_024675.4(PALB2):c.1803G>C (p.Lys601Asn)
|
rs1555460643
|
0.00001
|
|
NM_024675.4(PALB2):c.1814C>T (p.Ser605Phe)
|
rs876658992
|
0.00001
|
|
NM_024675.4(PALB2):c.1843C>A (p.Pro615Thr)
|
rs1019525144
|
0.00001
|
|
NM_024675.4(PALB2):c.1858G>C (p.Gly620Arg)
|
rs777940379
|
0.00001
|
|
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)
|
rs954390684
|
0.00001
|
|
NM_024675.4(PALB2):c.1885T>C (p.Ser629Pro)
|
rs1567218578
|
0.00001
|
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
|
NM_024675.4(PALB2):c.1891T>C (p.Ser631Pro)
|
rs1555460600
|
0.00001
|
|
NM_024675.4(PALB2):c.1903G>A (p.Val635Met)
|
rs776389696
|
0.00001
|
|
NM_024675.4(PALB2):c.1909C>T (p.Pro637Ser)
|
rs768248338
|
0.00001
|
|
NM_024675.4(PALB2):c.1936A>G (p.Arg646Gly)
|
rs1303399070
|
0.00001
|
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
rs771246748
|
0.00001
|
|
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
|
rs749842477
|
0.00001
|
|
NM_024675.4(PALB2):c.1975C>G (p.Leu659Val)
|
rs906858995
|
0.00001
|
|
NM_024675.4(PALB2):c.1985A>G (p.Lys662Arg)
|
rs1441798714
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.1990A>C (p.Met664Leu)
|
rs752714298
|
0.00001
|
|
NM_024675.4(PALB2):c.2009A>G (p.Asp670Gly)
|
rs781352462
|
0.00001
|
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
|
NM_024675.4(PALB2):c.2028T>G (p.Ile676Met)
|
rs763937788
|
0.00001
|
|
NM_024675.4(PALB2):c.2047C>T (p.His683Tyr)
|
rs1555460511
|
0.00001
|
|
NM_024675.4(PALB2):c.206A>C (p.His69Pro)
|
rs749443090
|
0.00001
|
|
NM_024675.4(PALB2):c.206A>T (p.His69Leu)
|
rs749443090
|
0.00001
|
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
|
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys)
|
rs780397699
|
0.00001
|
|
NM_024675.4(PALB2):c.2104A>C (p.Ile702Leu)
|
rs587781888
|
0.00001
|
|
NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala)
|
rs767056829
|
0.00001
|
|
NM_024675.4(PALB2):c.2117C>T (p.Thr706Ile)
|
rs587780209
|
0.00001
|
|
NM_024675.4(PALB2):c.2125A>T (p.Asn709Tyr)
|
rs1286704342
|
0.00001
|
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
rs45537237
|
0.00001
|
|
NM_024675.4(PALB2):c.2165A>G (p.Asp722Gly)
|
rs941888035
|
0.00001
|
|
NM_024675.4(PALB2):c.2167A>T (p.Met723Leu)
|
rs876660336
|
0.00001
|
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
|
NM_024675.4(PALB2):c.2207C>T (p.Ala736Val)
|
rs746056001
|
0.00001
|
|
NM_024675.4(PALB2):c.2224T>G (p.Ser742Ala)
|
rs752682542
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu)
|
rs573744591
|
0.00001
|
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
|
NM_024675.4(PALB2):c.2342G>A (p.Ser781Asn)
|
rs761298847
|
0.00001
|
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
|
NM_024675.4(PALB2):c.235T>C (p.Tyr79His)
|
rs1060502740
|
0.00001
|
|
NM_024675.4(PALB2):c.2399G>C (p.Cys800Ser)
|
rs757899898
|
0.00001
|
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
|
NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu)
|
rs876659364
|
0.00001
|
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
|
NM_024675.4(PALB2):c.2413G>T (p.Val805Phe)
|
rs876659475
|
0.00001
|
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
|
NM_024675.4(PALB2):c.2503T>A (p.Ser835Thr)
|
rs1343435250
|
0.00001
|
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3A>G
|
rs515726088
|
0.00001
|
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
rs1373085553
|
0.00001
|
|
NM_024675.4(PALB2):c.2568A>C (p.Gln856His)
|
rs587781708
|
0.00001
|
|
NM_024675.4(PALB2):c.2586G>C (p.Lys862Asn)
|
rs876658279
|
0.00001
|
|
NM_024675.4(PALB2):c.2587-25A>G
|
rs772989395
|
0.00001
|
|
NM_024675.4(PALB2):c.2587A>G (p.Asn863Asp)
|
rs776407568
|
0.00001
|
|
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys)
|
rs780415750
|
0.00001
|
|
NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp)
|
rs62625279
|
0.00001
|
|
NM_024675.4(PALB2):c.2603G>A (p.Cys868Tyr)
|
rs772398814
|
0.00001
|
|
NM_024675.4(PALB2):c.2606C>T (p.Ser869Phe)
|
rs779279139
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)
|
rs878855110
|
0.00001
|
|
NM_024675.4(PALB2):c.2650G>A (p.Glu884Lys)
|
rs1304351755
|
0.00001
|
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
rs765077104
|
0.00001
|
|
NM_024675.4(PALB2):c.2707G>A (p.Ala903Thr)
|
rs1324636666
|
0.00001
|
|
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)
|
rs45504298
|
0.00001
|
|
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)
|
rs1060502739
|
0.00001
|
|
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn)
|
rs180177123
|
0.00001
|
|
NM_024675.4(PALB2):c.2744C>T (p.Ala915Val)
|
rs1459102959
|
0.00001
|
|
NM_024675.4(PALB2):c.2748+2dup
|
rs1370694908
|
0.00001
|
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
|
NM_024675.4(PALB2):c.2780A>T (p.Asp927Val)
|
rs62625280
|
0.00001
|
|
NM_024675.4(PALB2):c.2781T>A (p.Asp927Glu)
|
rs1373766717
|
0.00001
|
|
NM_024675.4(PALB2):c.2782G>A (p.Val928Met)
|
rs771288520
|
0.00001
|
|
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr)
|
rs1227325413
|
0.00001
|
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
|
NM_024675.4(PALB2):c.2797T>G (p.Cys933Gly)
|
rs1295650692
|
0.00001
|
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
|
NM_024675.4(PALB2):c.2831T>G (p.Ile944Ser)
|
rs201817103
|
0.00001
|
|
NM_024675.4(PALB2):c.2832C>G (p.Ile944Met)
|
rs1555459704
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+5G>A
|
rs570455216
|
0.00001
|
|
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)
|
rs587778588
|
0.00001
|
|
NM_024675.4(PALB2):c.2855A>T (p.Asp952Val)
|
rs373280855
|
0.00001
|
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
|
NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr)
|
rs776902295
|
0.00001
|
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
|
NM_024675.4(PALB2):c.2928G>T (p.Arg976Ser)
|
rs878855115
|
0.00001
|
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
|
NM_024675.4(PALB2):c.2935A>C (p.Ser979Arg)
|
rs751227032
|
0.00001
|
|
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile)
|
rs764140747
|
0.00001
|
|
NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln)
|
rs876659036
|
0.00001
|
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
|
NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg)
|
rs1039184417
|
0.00001
|
|
NM_024675.4(PALB2):c.2995G>A (p.Gly999Arg)
|
rs1269970394
|
0.00001
|
|
NM_024675.4(PALB2):c.2996+3A>C
|
rs876659931
|
0.00001
|
|
NM_024675.4(PALB2):c.3014T>C (p.Phe1005Ser)
|
rs879254268
|
0.00001
|
|
NM_024675.4(PALB2):c.3021G>A (p.Met1007Ile)
|
rs1443207976
|
0.00001
|
|
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)
|
rs764669864
|
0.00001
|
|
NM_024675.4(PALB2):c.3029A>G (p.Glu1010Gly)
|
rs1228569190
|
0.00001
|
|
NM_024675.4(PALB2):c.3038T>C (p.Ile1013Thr)
|
rs775666266
|
0.00001
|
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
|
NM_024675.4(PALB2):c.3059A>G (p.Gln1020Arg)
|
rs776221283
|
0.00001
|
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-130A>C
|
rs1304034435
|
0.00001
|
|
NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)
|
rs587780215
|
0.00001
|
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
|
NM_024675.4(PALB2):c.3133C>T (p.Leu1045Phe)
|
rs1567209904
|
0.00001
|
|
NM_024675.4(PALB2):c.313G>C (p.Glu105Gln)
|
rs1307895700
|
0.00001
|
|
NM_024675.4(PALB2):c.3152T>A (p.Ile1051Asn)
|
rs760373091
|
0.00001
|
|
NM_024675.4(PALB2):c.3154G>A (p.Asp1052Asn)
|
rs878855116
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3164A>G (p.Tyr1055Cys)
|
rs1297371446
|
0.00001
|
|
NM_024675.4(PALB2):c.3182A>G (p.His1061Arg)
|
rs1966634515
|
0.00001
|
|
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys)
|
rs1347982621
|
0.00001
|
|
NM_024675.4(PALB2):c.319T>A (p.Phe107Ile)
|
rs752251774
|
0.00001
|
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
|
NM_024675.4(PALB2):c.322A>C (p.Asn108His)
|
rs1240552147
|
0.00001
|
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
|
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val)
|
rs769342316
|
0.00001
|
|
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)
|
rs45616636
|
0.00001
|
|
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser)
|
rs188254555
|
0.00001
|
|
NM_024675.4(PALB2):c.3317T>C (p.Met1106Thr)
|
rs769065406
|
0.00001
|
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
|
NM_024675.4(PALB2):c.3362G>A (p.Gly1121Asp)
|
rs62625282
|
0.00001
|
|
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr)
|
rs146444298
|
0.00001
|
|
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)
|
rs767830005
|
0.00001
|
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
|
NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)
|
rs1249960937
|
0.00001
|
|
NM_024675.4(PALB2):c.3417T>G (p.Ile1139Met)
|
rs876659632
|
0.00001
|
|
NM_024675.4(PALB2):c.3419G>C (p.Trp1140Ser)
|
rs1060502809
|
0.00001
|
|
NM_024675.4(PALB2):c.3434G>A (p.Gly1145Asp)
|
rs1442377872
|
0.00001
|
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
|
NM_024675.4(PALB2):c.3475T>G (p.Trp1159Gly)
|
rs876660792
|
0.00001
|
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
|
NM_024675.4(PALB2):c.3484G>A (p.Val1162Met)
|
rs1060502752
|
0.00001
|
|
NM_024675.4(PALB2):c.3490T>C (p.Trp1164Arg)
|
rs751979432
|
0.00001
|
|
NM_024675.4(PALB2):c.3493T>C (p.Ser1165Pro)
|
rs763591645
|
0.00001
|
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
|
NM_024675.4(PALB2):c.3500C>G (p.Thr1167Arg)
|
rs1308784980
|
0.00001
|
|
NM_024675.4(PALB2):c.3513G>C (p.Leu1171Phe)
|
rs1221176559
|
0.00001
|
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
|
NM_024675.4(PALB2):c.3521G>T (p.Gly1174Val)
|
rs1286090287
|
0.00001
|
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
|
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)
|
rs180177139
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala)
|
rs747149179
|
0.00001
|
|
NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr)
|
rs730881880
|
0.00001
|
|
NM_024675.4(PALB2):c.371C>T (p.Thr124Ile)
|
rs45457297
|
0.00001
|
|
NM_024675.4(PALB2):c.379C>T (p.His127Tyr)
|
rs1056494105
|
0.00001
|
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
|
NM_024675.4(PALB2):c.380A>G (p.His127Arg)
|
rs863224789
|
0.00001
|
|
NM_024675.4(PALB2):c.39G>C (p.Glu13Asp)
|
rs876660538
|
0.00001
|
|
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)
|
rs144496685
|
0.00001
|
|
NM_024675.4(PALB2):c.409G>A (p.Gly137Ser)
|
rs1397816581
|
0.00001
|
|
NM_024675.4(PALB2):c.40A>G (p.Lys14Glu)
|
rs786202029
|
0.00001
|
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
|
NM_024675.4(PALB2):c.43G>A (p.Glu15Lys)
|
rs730881884
|
0.00001
|
|
NM_024675.4(PALB2):c.466A>G (p.Ile156Val)
|
rs1597099200
|
0.00001
|
|
NM_024675.4(PALB2):c.470C>T (p.Ser157Leu)
|
rs749078410
|
0.00001
|
|
NM_024675.4(PALB2):c.473A>G (p.Gln158Arg)
|
rs1349641343
|
0.00001
|
|
NM_024675.4(PALB2):c.481G>C (p.Asp161His)
|
rs769841151
|
0.00001
|
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
|
NM_024675.4(PALB2):c.505C>T (p.Leu169Phe)
|
rs180177086
|
0.00001
|
|
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln)
|
rs864622280
|
0.00001
|
|
NM_024675.4(PALB2):c.554A>G (p.Lys185Arg)
|
rs864622667
|
0.00001
|
|
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)
|
rs587781975
|
0.00001
|
|
NM_024675.4(PALB2):c.566G>T (p.Arg189Ile)
|
rs764180110
|
0.00001
|
|
NM_024675.4(PALB2):c.584T>C (p.Ile195Thr)
|
rs587782260
|
0.00001
|
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
|
NM_024675.4(PALB2):c.590C>T (p.Thr197Ile)
|
rs367945485
|
0.00001
|
|
NM_024675.4(PALB2):c.616C>T (p.Leu206Phe)
|
rs776664411
|
0.00001
|
|
NM_024675.4(PALB2):c.620C>T (p.Pro207Leu)
|
rs515726125
|
0.00001
|
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
|
NM_024675.4(PALB2):c.661G>A (p.Val221Ile)
|
rs1060502773
|
0.00001
|
|
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys)
|
rs1385914265
|
0.00001
|
|
NM_024675.4(PALB2):c.706T>G (p.Phe236Val)
|
rs1196649458
|
0.00001
|
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
|
NM_024675.4(PALB2):c.749T>C (p.Leu250Ser)
|
rs774675771
|
0.00001
|
|
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly)
|
rs776753788
|
0.00001
|
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
|
NM_024675.4(PALB2):c.802A>G (p.Lys268Glu)
|
rs1347572821
|
0.00001
|
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
|
NM_024675.4(PALB2):c.817C>T (p.Leu273Phe)
|
rs537723251
|
0.00001
|
|
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile)
|
rs786202499
|
0.00001
|
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
|
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe)
|
rs751882053
|
0.00001
|
|
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly)
|
rs45447991
|
0.00001
|
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
|
NM_024675.4(PALB2):c.858T>G (p.Pro286=)
|
rs1060504709
|
0.00001
|
|
NM_024675.4(PALB2):c.860T>C (p.Val287Ala)
|
rs1555461576
|
0.00001
|
|
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp)
|
rs876660398
|
0.00001
|
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
rs1060502765
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
rs759014440
|
0.00001
|
|
NM_024675.4(PALB2):c.926T>A (p.Ile309Lys)
|
rs201588519
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
rs755129205
|
0.00001
|
|
NM_024675.4(PALB2):c.935G>A (p.Ser312Asn)
|
rs1407319475
|
0.00001
|
|
NM_024675.4(PALB2):c.956C>A (p.Ser319Tyr)
|
rs200144401
|
0.00001
|
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
|
NM_024675.4(PALB2):c.977C>T (p.Ser326Leu)
|
rs1282291340
|
0.00001
|
|
NM_024675.4(PALB2):c.97G>A (p.Ala33Thr)
|
rs747302288
|
0.00001
|
|
NM_024675.4(PALB2):c.985C>G (p.Leu329Val)
|
rs863224792
|
0.00001
|
|
NM_030904.2(OR2T1):c.-18G>A
|
rs193920936
|
0.00001
|
|
NM_031272.5(TEX14):c.3172-1908C>T
|
rs193920796
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
|
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys)
|
rs762417690
|
0.00001
|
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile)
|
rs776939714
|
0.00001
|
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
|
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp)
|
rs778992385
|
0.00001
|
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
|
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val)
|
rs786203967
|
0.00001
|
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
|
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr)
|
rs1340018456
|
0.00001
|
|
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)
|
rs786202780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
|
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val)
|
rs767872861
|
0.00001
|
|
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln)
|
rs772570870
|
0.00001
|
|
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln)
|
rs748105919
|
0.00001
|
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
|
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser)
|
rs779237423
|
0.00001
|
|
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr)
|
rs587781463
|
0.00001
|
|
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu)
|
rs2077947326
|
0.00001
|
|
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg)
|
rs730881636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln)
|
rs753214212
|
0.00001
|
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
|
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala)
|
rs1458068665
|
0.00001
|
|
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly)
|
rs2078950725
|
0.00001
|
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
|
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val)
|
rs769918040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
|
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu)
|
rs748221377
|
0.00001
|
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
|
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys)
|
rs755317452
|
0.00001
|
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro)
|
rs1555603617
|
0.00001
|
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
|
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg)
|
rs587781726
|
0.00001
|
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
|
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr)
|
rs1179705368
|
0.00001
|
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr)
|
rs766302517
|
0.00001
|
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn)
|
rs1289102059
|
0.00001
|
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
|
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg)
|
rs1435822764
|
0.00001
|
|
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val)
|
rs786202587
|
0.00001
|
|
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met)
|
rs1411869768
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg)
|
rs876658547
|
0.00001
|
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
|
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile)
|
rs876661057
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
|
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu)
|
rs375625993
|
0.00001
|
|
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala)
|
rs1317946589
|
0.00001
|
|
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr)
|
rs770750488
|
0.00001
|
|
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg)
|
rs864622345
|
0.00001
|
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met)
|
rs754280136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His)
|
rs1254051324
|
0.00001
|
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
|
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg)
|
rs876660402
|
0.00001
|
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
|
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln)
|
rs1246321339
|
0.00001
|
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
|
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly)
|
rs1294492499
|
0.00001
|
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
|
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu)
|
rs878855144
|
0.00001
|
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
|
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln)
|
rs762590242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
|
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala)
|
rs769797684
|
0.00001
|
|
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu)
|
rs1353526212
|
0.00001
|
|
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn)
|
rs587782556
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+6_2257+7del
|
rs1255940179
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly)
|
rs1422958547
|
0.00001
|
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
|
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His)
|
rs747568830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu)
|
rs776131401
|
0.00001
|
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
|
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr)
|
rs1289778155
|
0.00001
|
|
NM_032043.3(BRIP1):c.2380-3T>A
|
rs587782542
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
|
NM_032043.3(BRIP1):c.2535G>A (p.Val845=)
|
rs1555574772
|
0.00001
|
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
|
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met)
|
rs1427254734
|
0.00001
|
|
NM_032043.3(BRIP1):c.2575+4A>G
|
rs758858747
|
0.00001
|
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)
|
rs774415723
|
0.00001
|
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
|
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala)
|
rs758444508
|
0.00001
|
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
|
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)
|
rs1453990721
|
0.00001
|
|
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu)
|
rs754224663
|
0.00001
|
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
|
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
|
rs1221074399
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
|
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys)
|
rs1007808618
|
0.00001
|
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)
|
rs756490117
|
0.00001
|
|
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly)
|
rs529201896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln)
|
rs863224802
|
0.00001
|
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
|
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)
|
rs1176224216
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
|
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)
|
rs182087528
|
0.00001
|
|
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu)
|
rs1060501756
|
0.00001
|
|
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly)
|
rs2061323811
|
0.00001
|
|
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr)
|
rs786203418
|
0.00001
|
|
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala)
|
rs1278002478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
|
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu)
|
rs769692303
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
|
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val)
|
rs587781744
|
0.00001
|
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
|
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu)
|
rs1199923024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
|
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro)
|
rs2061317060
|
0.00001
|
|
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)
|
rs1567728809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser)
|
rs878855153
|
0.00001
|
|
NM_032043.3(BRIP1):c.320A>G (p.His107Arg)
|
rs876659809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)
|
rs776129117
|
0.00001
|
|
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln)
|
rs1281827397
|
0.00001
|
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup)
|
rs1423363607
|
0.00001
|
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
|
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)
|
rs781102464
|
0.00001
|
|
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn)
|
rs2061311430
|
0.00001
|
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)
|
rs1603275034
|
0.00001
|
|
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)
|
rs757363615
|
0.00001
|
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter)
|
rs2061304701
|
0.00001
|
|
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)
|
rs771889454
|
0.00001
|
|
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)
|
rs1555572570
|
0.00001
|
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
|
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu)
|
rs375741316
|
0.00001
|
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
|
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile)
|
rs1368343911
|
0.00001
|
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
|
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala)
|
rs1567874478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val)
|
rs139539831
|
0.00001
|
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
|
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)
|
rs1060501734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
|
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)
|
rs1196057129
|
0.00001
|
|
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)
|
rs763579793
|
0.00001
|
|
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn)
|
rs1311206718
|
0.00001
|
|
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys)
|
rs762701532
|
0.00001
|
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
|
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu)
|
rs1415589484
|
0.00001
|
|
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu)
|
rs756269682
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser)
|
rs779409059
|
0.00001
|
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
|
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)
|
rs786203708
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu)
|
rs1292425366
|
0.00001
|
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
|
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg)
|
rs1567838078
|
0.00001
|
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
|
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr)
|
rs865910081
|
0.00001
|
|
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp)
|
rs1401241698
|
0.00001
|
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
|
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)
|
rs148556781
|
0.00001
|
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
|
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu)
|
rs1555607779
|
0.00001
|
|
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe)
|
rs772319724
|
0.00001
|
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
|
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)
|
rs1465002801
|
0.00001
|
|
NM_032383.5(HPS3):c.1509+6C>G
|
rs193920800
|
0.00001
|
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
|
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr)
|
rs751285156
|
0.00001
|
|
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)
|
rs374457534
|
0.00001
|
|
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg)
|
rs370164300
|
0.00001
|
|
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)
|
rs777726701
|
0.00001
|
|
NM_032638.5(GATA2):c.182C>T (p.Ala61Val)
|
rs375349195
|
0.00001
|
|
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)
|
rs570531959
|
0.00001
|
|
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly)
|
rs1161655427
|
0.00001
|
|
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala)
|
rs377261969
|
0.00001
|
|
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr)
|
rs1355811506
|
0.00001
|
|
NM_032638.5(GATA2):c.593C>T (p.Ala198Val)
|
rs745726293
|
0.00001
|
|
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr)
|
rs375298899
|
0.00001
|
|
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr)
|
rs1443864030
|
0.00001
|
|
NM_032782.5(HAVCR2):c.332G>A (p.Arg111Gln)
|
rs367701067
|
0.00001
|
|
NM_033004.4(NLRP1):c.2818C>T (p.Arg940Ter)
|
rs193920788
|
0.00001
|
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
|
NM_054106.1(OR5AC2):c.730G>A (p.Gly244Ser)
|
rs193920759
|
0.00001
|
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
|
NM_133473.4(ZNF431):c.1021G>A (p.Glu341Lys)
|
rs193921015
|
0.00001
|
|
NM_144685.5(HIPK4):c.1279G>A (p.Asp427Asn)
|
rs193920880
|
0.00001
|
|
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)
|
rs1313891453
|
0.00001
|
|
NM_144997.7(FLCN):c.1315G>A (p.Val439Met)
|
rs112980409
|
0.00001
|
|
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)
|
rs759637055
|
0.00001
|
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
|
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)
|
rs201056799
|
0.00001
|
|
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
|
rs778275358
|
0.00001
|
|
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)
|
rs779900587
|
0.00001
|
|
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)
|
rs773648142
|
0.00001
|
|
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)
|
rs746556970
|
0.00001
|
|
NM_144997.7(FLCN):c.251G>T (p.Gly84Val)
|
rs1386417463
|
0.00001
|
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
|
NM_144997.7(FLCN):c.451G>A (p.Val151Met)
|
rs147164515
|
0.00001
|
|
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)
|
rs1040675580
|
0.00001
|
|
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)
|
rs765251703
|
0.00001
|
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
|
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)
|
rs1407566775
|
0.00001
|
|
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln)
|
rs756807584
|
0.00001
|
|
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)
|
rs370074267
|
0.00001
|
|
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)
|
rs371401039
|
0.00001
|
|
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)
|
rs898441209
|
0.00001
|
|
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)
|
rs748031634
|
0.00001
|
|
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)
|
rs770027312
|
0.00001
|
|
NM_153021.5(PLB1):c.3195+7C>A
|
rs193921064
|
0.00001
|
|
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)
|
rs1202378531
|
0.00001
|
|
NM_176889.4(TAS2R20):c.254C>G (p.Ser85Cys)
|
rs193920802
|
0.00001
|
|
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val)
|
rs201212908
|
0.00001
|
|
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn)
|
rs373412959
|
0.00001
|
|
NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser)
|
rs1288723916
|
0.00001
|
|
NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg)
|
rs764415288
|
0.00001
|
|
NM_177438.3(DICER1):c.4675A>G (p.Ile1559Val)
|
rs377409989
|
0.00001
|
|
NM_177438.3(DICER1):c.920G>A (p.Arg307His)
|
rs149718671
|
0.00001
|
|
NM_177438.3(DICER1):c.925G>A (p.Val309Ile)
|
rs1181141404
|
0.00001
|
|
NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)
|
rs778178524
|
0.00001
|
|
NM_182932.3(SLC8A3):c.1690G>A (p.Val564Ile)
|
rs76086886
|
0.00001
|
|
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)
|
rs878855299
|
0.00001
|
|
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)
|
rs1228165704
|
0.00001
|
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
|
NM_198253.3(TERT):c.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
|
NM_206937.2(LIG4):c.1242A>C (p.Val414=)
|
rs150828164
|
0.00001
|
|
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro)
|
rs1284344984
|
0.00001
|
|
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
|
rs373262036
|
0.00001
|
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
|
GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3
|
|
|
|
GRCh37/hg19 10p11.23(chr10:30728036-30900919)x3
|
|
|
|
GRCh37/hg19 10p12.1(chr10:27326892-27356151)x3
|
|
|
|
GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3
|
|
|
|
GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3
|
|
|
|
GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3
|
|
|
|
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3
|
|
|
|
GRCh37/hg19 11p15.4(chr11:9042668-9165735)x3
|
|
|
|
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1
|
|
|
|
GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3
|
|
|
|
GRCh37/hg19 11q21(chr11:94696615-95528715)x3
|
|
|
|
GRCh37/hg19 11q23.1(chr11:111735939-111784393)x3
|
|
|
|
GRCh37/hg19 11q23.1(chr11:111789713-111857622)x4
|
|
|
|
GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3
|
|
|
|
GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3
|
|
|
|
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3
|
|
|
|
GRCh37/hg19 12p13.32(chr12:4627993-4665594)x3
|
|
|
|
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3
|
|
|
|
GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3
|
|
|
|
GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4
|
|
|
|
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3
|
|
|
|
GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3
|
|
|
|
GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4
|
|
|
|
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
|
|
|
|
GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3
|
|
|
|
GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4
|
|
|
|
GRCh37/hg19 14q32.33(chr14:105936477-105995652)x3
|
|
|
|
GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3
|
|
|
|
GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3
|
|
|
|
GRCh37/hg19 15q23(chr15:69079813-72040847)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:90931601-90976990)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:91475054-91478581)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:93198718-93536159)x3
|
|
|
|
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29814850-29830976)x4
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5
|
|
|
|
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4
|
|
|
|
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3
|
|
|
|
GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4
|
|
|
|
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:324072-705832)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:706802-772110)x4
|
|
|
|
GRCh37/hg19 16p13.3(chr16:772433-857560)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-323799)x3
|
|
|
|
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3
|
|
|
|
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3
|
|
|
|
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1
|
|
|
|
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1
|
|
|
|
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1
|
|
|
|
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1
|
|
|
|
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1
|
|
|
|
GRCh37/hg19 17p11.2(chr17:16052798-16062131)x4
|
|
|
|
GRCh37/hg19 17p11.2(chr17:17718204-17726877)x3
|
|
|
|
GRCh37/hg19 17p12(chr17:11887472-12044521)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7736464-7798352)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3
|
|
|
|
GRCh37/hg19 18p11.21-q11.1(chr18:14748529-18690826)x3
|
|
|
|
GRCh37/hg19 18q12.2(chr18:33611007-33722860)x4
|
|
|
|
GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1
|
|
|
|
GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3
|
|
|
|
GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3
|
|
|
|
GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3
|
|
|
|
GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1
|
|
|
|
GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3
|
|
|
|
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1
|
|
|
|
GRCh37/hg19 19q13.42(chr19:54647215-54705417)x3
|
|
|
|
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1
|
|
|
|
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1
|
|
|
|
GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3
|
|
|
|
GRCh37/hg19 1p13.3(chr1:108115974-108313305)x3
|
|
|
|
GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6
|
|
|
|
GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3
|
|
|
|
GRCh37/hg19 1p31.3(chr1:61543299-61548462)x7
|
|
|
|
GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3
|
|
|
|
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1
|
|
|
|
GRCh37/hg19 1p36.22(chr1:11850846-11867218)x3
|
|
|
|
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3
|
|
|
|
GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:153742283-153752391)x3
|
|
|
|
GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3
|
|
|
|
GRCh37/hg19 1q41(chr1:215747156-215751043)x5
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GRCh37/hg19 20p11.21(chr20:25284225-25371245)x3
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GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3
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GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3
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GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3
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GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3
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GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1
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GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4
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GRCh37/hg19 22q13.33(chr22:50318056-50437748)x3
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GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3
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GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3
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GRCh37/hg19 2p13.2(chr2:71595585-71645751)x3
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GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3
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GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3
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GRCh37/hg19 2q31.1(chr2:170009392-170072852)x3
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GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3
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GRCh37/hg19 2q31.3-32.1(chr2:182756899-183051256)x4
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GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3
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GRCh37/hg19 2q35(chr2:219221864-219423299)x3
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GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3
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GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3
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GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3
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GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3
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GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3
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GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4
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GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3
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GRCh37/hg19 3q29(chr3:193333511-194338436)x3
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GRCh37/hg19 4q13.2(chr4:68488897-68562395)x3
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GRCh37/hg19 4q24(chr4:104035661-104119449)x3
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GRCh37/hg19 4q32.3(chr4:169325195-169379102)x3
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GRCh37/hg19 4q33(chr4:170482863-170581561)x4
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GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4
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GRCh37/hg19 4q34.1(chr4:174254726-174298418)x4
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GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4
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GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3
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GRCh37/hg19 5q12.3(chr5:64817329-64847428)x7
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GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3
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GRCh37/hg19 5q23.1-23.2(chr5:121297746-121406237)x4
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GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3
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GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3
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GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3
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GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3
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GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3
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GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3
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GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3
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GRCh37/hg19 6p22.1(chr6:30029374-30036983)x3
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GRCh37/hg19 6p22.2(chr6:26020923-26056336)x4
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GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4
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GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3
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GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3
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GRCh37/hg19 6q27(chr6:167412952-167447412)x3
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GRCh37/hg19 7q11.22(chr7:70163581-70255359)x4
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GRCh37/hg19 7q11.23(chr7:73122969-73256410)x3
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GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3
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GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3
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GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3
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GRCh37/hg19 7q36.1(chr7:149174751-149523266)x1
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GRCh37/hg19 8p11.22(chr8:39645687-39694694)x4
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GRCh37/hg19 8p22(chr8:17793168-18457910)x3
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GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3
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GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3
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GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3
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GRCh37/hg19 9q33.2(chr9:123939453-123954476)x4
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GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1
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GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1
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GRCh38/hg38 15q25.2(chr15:82663590-82826799)x1
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GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1
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GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
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GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1
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GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0
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GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1
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GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1
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GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0
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GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1
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GRCh38/hg38 1p36.11(chr1:26519016-26520363)x0
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GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0
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GRCh38/hg38 1p36.21(chr1:13272807-13275727)x1
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GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1
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GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1
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GRCh38/hg38 20p13(chr20:3672810-3673617)x1
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GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
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GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1
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GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1
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GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1
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GRCh38/hg38 6p12.2(chr6:52751643-52757905)x1
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GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1
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GRCh38/hg38 9q34.3(chr9:135665886-135775364)x1
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MHS6:c.3647-65_3647-61del
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rs3136363
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NC_000001.10:g.(?_130980840)_(248900000_?)dup
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NC_000001.10:g.(?_17345217)_(17380665_?)dup
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NC_000001.10:g.(?_17345366)_(17380524_?)dup
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NC_000001.10:g.(?_17345370)_(17355237_?)dup
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NC_000001.10:g.(?_17345376)_(17355241_?)dup
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NC_000001.10:g.(?_17345376)_(17371393_?)dup
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NC_000001.10:g.(?_17354234)_(17354370_?)del
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NC_000001.10:g.(?_17359545)_(17380524_?)dup
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NC_000001.10:g.(?_17371246)_(17380524_?)dup
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NC_000001.10:g.(?_193091321)_(193219852_?)dup
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NC_000001.10:g.(?_193094232)_(193219842_?)dup
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NC_000001.10:g.(?_193110974)_(193219848_?)dup
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NC_000001.10:g.(?_193172915)_(193219842_?)dup
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NC_000001.10:g.(?_193172925)_(193223945_?)dup
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NC_000001.10:g.(?_193202113)_(193219842_?)del
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NC_000001.10:g.(?_193202113)_(193219842_?)dup
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NC_000001.10:g.(?_193218850)_(193219852_?)dup
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NC_000001.10:g.(?_43812096)_(43818443_?)dup
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NC_000001.11:g.(?_17018722)_(17018958_?)del
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NC_000001.11:g.(?_17018881)_(17018968_?)dup
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NC_000001.11:g.(?_17018881)_(17054019_?)dup
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NC_000001.11:g.(?_193122191)_(193152454_?)dup
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NC_000001.11:g.(?_193122201)_(193125227_?)dup
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NC_000001.11:g.(?_193122201)_(193152454_?)dup
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NC_000001.11:g.(?_193122201)_(193250712_?)dup
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NC_000001.11:g.(?_193141840)_(193250722_?)dup
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NC_000001.11:g.(?_193147857)_(193152454_?)del
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NC_000001.11:g.(?_193203785)_(193250722_?)dup
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NC_000001.11:g.(?_193249724)_(193250718_?)del
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NC_000002.11:g.(?_215593390)_(215634046_?)dup
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NC_000002.11:g.(?_215593390)_(215674303_?)dup
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NC_000002.11:g.(?_215593394)_(215634042_?)dup
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NC_000002.11:g.(?_215593394)_(215674299_?)dup
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NC_000002.11:g.(?_215593400)_(215610588_?)dup
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NC_000002.11:g.(?_215593400)_(215617289_?)dup
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NC_000002.11:g.(?_215593400)_(215634056_?)dup
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NC_000002.11:g.(?_215593400)_(215661851_?)dup
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NC_000002.11:g.(?_215593400)_(215813893_?)dup
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NC_000002.11:g.(?_215593400)_(216212339_?)dup
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NC_000002.11:g.(?_215609781)_(215609893_?)dup
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NC_000002.11:g.(?_215609781)_(215646243_?)del
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NC_000002.11:g.(?_215661775)_(215674303_?)dup
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NC_000002.11:g.(?_215661779)_(215674299_?)dup
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NC_000002.11:g.(?_38121051)_(47710088_?)dup
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NC_000002.11:g.(?_47596287)_(47596720_?)dup
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NC_000002.11:g.(?_47596287)_(47604216_?)dup
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NC_000002.11:g.(?_47596287)_(47614167_?)dup
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NC_000002.11:g.(?_47596635)_(47596730_?)dup
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NC_000002.11:g.(?_47596635)_(47607118_?)dup
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NC_000002.11:g.(?_47596635)_(47613762_?)dup
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NC_000002.11:g.(?_47596635)_(47630551_?)dup
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NC_000002.11:g.(?_47596635)_(47710098_?)dup
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NC_000002.11:g.(?_47596635)_(48034009_?)dup
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NC_000002.11:g.(?_47596639)_(47613758_?)dup
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NC_000002.11:g.(?_47596645)_(47596730_?)dup
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NC_000002.11:g.(?_47596645)_(47602448_?)dup
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NC_000002.11:g.(?_47596645)_(47604226_?)dup
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NC_000002.11:g.(?_47596645)_(47672816_?)dup
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NC_000002.11:g.(?_47606898)_(47710098_?)dup
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NC_000002.11:g.(?_47606898)_(47710120_?)dup
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NC_000002.11:g.(?_47612295)_(47613752_?)dup
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NC_000002.11:g.(?_47630150)_(47630551_?)dup
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NC_000002.11:g.(?_47630150)_(47657090_?)dup
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NC_000002.11:g.(?_47630150)_(48035526_?)dup
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NC_000002.11:g.(?_47630252)_(47637521_?)dup
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NC_000002.11:g.(?_47630252)_(47657090_?)dup
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NC_000002.11:g.(?_47630252)_(47708030_?)dup
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NC_000002.11:g.(?_47630252)_(47710088_?)dup
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NC_000002.11:g.(?_47635530)_(47710098_?)dup
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NC_000002.11:g.(?_47635534)_(47657086_?)dup
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NC_000002.11:g.(?_47643425)_(47672806_?)dup
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NC_000002.11:g.(?_47656875)_(47710094_?)dup
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NC_000002.11:g.(?_47690160)_(47708020_?)dup
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NC_000002.11:g.(?_47690160)_(47710120_?)dup
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NC_000002.11:g.(?_47698094)_(47710098_?)dup
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NC_000002.11:g.(?_47698104)_(47710367_?)dup
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NC_000002.11:g.(?_47707825)_(47710098_?)dup
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NC_000002.11:g.(?_47707825)_(47710120_?)dup
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NC_000002.11:g.(?_48010221)_(48010632_?)dup
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NC_000002.11:g.(?_48010221)_(48032166_?)dup
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NC_000002.11:g.(?_48010363)_(48010642_?)dup
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NC_000002.11:g.(?_48010363)_(48018272_?)dup
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NC_000002.11:g.(?_48010363)_(48034009_?)dup
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NC_000002.11:g.(?_48010367)_(48033796_?)dup
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NC_000002.11:g.(?_48010367)_(48034005_?)dup
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NC_000002.11:g.(?_48010373)_(48023222_?)dup
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NC_000002.11:g.(?_48018056)_(48034014_?)dup
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NC_000002.11:g.(?_48018060)_(48034005_?)dup
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NC_000002.11:g.(?_48023023)_(48035526_?)dup
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NC_000002.11:g.(?_48032572)_(48032937_?)dup
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NC_000002.12:g.(?_214728666)_(214730518_?)dup
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NC_000002.12:g.(?_214728676)_(214769322_?)dup
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NC_000002.12:g.(?_214728676)_(214809569_?)dup
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NC_000002.12:g.(?_214769222)_(214769322_?)del
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NC_000002.12:g.(?_214797051)_(214809569_?)dup
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NC_000002.12:g.(?_47369496)_(47429951_?)dup
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NC_000002.12:g.(?_47369506)_(47379979_?)dup
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NC_000002.12:g.(?_47369506)_(47386613_?)dup
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NC_000002.12:g.(?_47369506)_(47466818_?)dup
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NC_000002.12:g.(?_47369506)_(47482981_?)dup
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NC_000002.12:g.(?_47379759)_(47379979_?)del
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NC_000002.12:g.(?_47403011)_(47408565_?)dup
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NC_000002.12:g.(?_47442337)_(47808387_?)dup
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NC_000002.12:g.(?_47470955)_(47482981_?)dup
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NC_000002.12:g.(?_47482769)_(47482981_?)dup
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NC_000002.12:g.(?_47482779)_(47482949_?)del
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NC_000002.12:g.(?_47783234)_(47783503_?)dup
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NC_000002.12:g.(?_47783234)_(47791133_?)dup
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NC_000002.12:g.(?_47783234)_(47796073_?)dup
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NC_000002.12:g.(?_47783234)_(47805037_?)dup
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NC_000002.12:g.(?_47783234)_(47808387_?)dup
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NC_000002.12:g.(?_47790917)_(47806870_?)dup
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NC_000002.12:g.(?_47790917)_(47808387_?)dup
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NC_000002.12:g.47806205_47806210del
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NC_000003.11:g.(?_37034542)_(37035260_?)dup
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NC_000003.11:g.(?_37034542)_(37092154_?)dup
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NC_000003.11:g.(?_37042440)_(37092150_?)dup
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NC_000003.11:g.(?_37050291)_(37061964_?)dup
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NC_000003.11:g.(?_37055917)_(37059096_?)dup
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NC_000003.11:g.(?_37083749)_(37092144_?)dup
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NC_000003.11:g.(?_37089000)_(37092154_?)dup
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NC_000003.11:g.(?_37089998)_(37092144_?)dup
|
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NC_000003.12:g.(?_36993051)_(36993673_?)dup
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NC_000003.12:g.(?_36993051)_(37050653_?)dup
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NC_000003.12:g.(?_37047509)_(37050653_?)dup
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NC_000004.11:g.(?_169815658)_(169819885_?)del
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NC_000004.12:g.(?_168877882)_(168926395_?)dup
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NC_000004.12:g.(?_168877892)_(168926385_?)dup
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NC_000007.13:g.(?_116339129)_(116340348_?)dup
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NC_000007.13:g.(?_116339129)_(117144427_?)dup
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NC_000013.11:g.48303740A>T
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NC_000013.11:g.48303741C>T
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NC_000013.11:g.48303742G>A
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|
|
NC_000023.11:g.(?_133536124)_(133536303_?)dup
|
|
|
|
NC_000023.11:g.(?_133953040)_(133985449_?)dup
|
|
|
|
NC_012920.1:m.14372C>A
|
rs1556424431
|
|
|
NC_012920.1:m.14732A>G
|
rs527236202
|
|
|
NC_012920.1:m.14743A>G
|
rs527236161
|
|
|
NC_012920.1:m.14891C>G
|
rs386419981
|
|
|
NC_012920.1:m.14974C>G
|
rs527236168
|
|
|
NC_012920.1:m.15349C>A
|
rs527236201
|
|
|
NC_012920.1:m.15890C>A
|
rs527236196
|
|
|
NC_012920.1:m.15932T>G
|
rs527236199
|
|
|
NM_000038.6(APC):c.1015A>T (p.Ser339Cys)
|
|
|
|
NM_000038.6(APC):c.10G>C (p.Ala4Pro)
|
rs774219012
|
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
|
NM_000038.6(APC):c.1374T>C (p.Phe458=)
|
rs2149792451
|
|
|
NM_000038.6(APC):c.1463T>C (p.Leu488Pro)
|
rs368434773
|
|
|
NM_000038.6(APC):c.1592C>G (p.Ala531Gly)
|
rs755879124
|
|
|
NM_000038.6(APC):c.1703G>T (p.Ser568Ile)
|
rs962373452
|
|
|
NM_000038.6(APC):c.170A>T (p.Asp57Val)
|
rs794729227
|
|
|
NM_000038.6(APC):c.1743+254T>C
|
|
|
|
NM_000038.6(APC):c.1744-4C>G
|
rs772745309
|
|
|
NM_000038.6(APC):c.1904G>A (p.Gly635Glu)
|
rs730881239
|
|
|
NM_000038.6(APC):c.1993_1994del (p.Leu665fs)
|
rs1580617349
|
|
|
NM_000038.6(APC):c.2160G>A (p.Met720Ile)
|
rs1283428855
|
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
|
NM_000038.6(APC):c.2558A>G (p.Glu853Gly)
|
rs1554084263
|
|
|
NM_000038.6(APC):c.2573T>C (p.Ile858Thr)
|
rs1765215022
|
|
|
NM_000038.6(APC):c.2658G>T (p.Gln886His)
|
rs587780593
|
|
|
NM_000038.6(APC):c.2789C>T (p.Thr930Ile)
|
rs1580627038
|
|
|
NM_000038.6(APC):c.2819C>T (p.Ser940Leu)
|
rs544709767
|
|
|
NM_000038.6(APC):c.2986A>G (p.Ser996Gly)
|
rs1554084628
|
|
|
NM_000038.6(APC):c.3067dup (p.Thr1023fs)
|
rs876658724
|
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
|
NM_000038.6(APC):c.3160C>T (p.His1054Tyr)
|
rs1195583636
|
|
|
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)
|
rs1580633119
|
|
|
NM_000038.6(APC):c.3342A>G (p.Arg1114=)
|
rs786201145
|
|
|
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)
|
rs372855304
|
|
|
NM_000038.6(APC):c.3381G>C (p.Gln1127His)
|
rs1554084977
|
|
|
NM_000038.6(APC):c.3490A>G (p.Ile1164Val)
|
rs1554085052
|
|
|
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys)
|
rs754067085
|
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
|
NM_000038.6(APC):c.391A>G (p.Thr131Ala)
|
rs1580329587
|
|
|
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala)
|
rs2149907365
|
|
|
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg)
|
rs2149907480
|
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
|
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly)
|
rs1303200783
|
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
|
NM_000038.6(APC):c.4440G>C (p.Gln1480His)
|
rs876659881
|
|
|
NM_000038.6(APC):c.4658C>T (p.Ala1553Val)
|
rs1554086050
|
|
|
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
|
rs1554086219
|
|
|
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)
|
rs1554086241
|
|
|
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)
|
rs758987855
|
|
|
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)
|
rs587781600
|
|
|
NM_000038.6(APC):c.5026_5028del (p.Arg1676del)
|
rs768369050
|
|
|
NM_000038.6(APC):c.52A>G (p.Met18Val)
|
rs587782402
|
|
|
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn)
|
rs768922376
|
|
|
NM_000038.6(APC):c.5684C>T (p.Thr1895Ile)
|
rs752605851
|
|
|
NM_000038.6(APC):c.5931A>G (p.Gln1977=)
|
rs975299630
|
|
|
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg)
|
rs1554087256
|
|
|
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)
|
rs1766164614
|
|
|
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)
|
rs786202975
|
|
|
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser)
|
rs745308565
|
|
|
NM_000038.6(APC):c.6431T>C (p.Leu2144Pro)
|
rs786203880
|
|
|
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly)
|
rs1060503292
|
|
|
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)
|
rs773539706
|
|
|
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys)
|
rs1554087778
|
|
|
NM_000038.6(APC):c.6893C>T (p.Ala2298Val)
|
rs1554087829
|
|
|
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser)
|
rs1389311736
|
|
|
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)
|
rs1561612604
|
|
|
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)
|
rs199806334
|
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
|
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys)
|
rs1554088693
|
|
|
NM_000038.6(APC):c.7869A>G (p.Thr2623=)
|
rs775126492
|
|
|
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr)
|
rs1580687626
|
|
|
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser)
|
rs1195417407
|
|
|
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)
|
rs1766608503
|
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
|
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)
|
rs1060503332
|
|
|
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn)
|
rs1554089164
|
|
|
NM_000044.6(AR):c.1025C>T (p.Pro342Leu)
|
rs138454018
|
|
|
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup)
|
rs3032358
|
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
|
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
|
|
|
|
NM_000051.4(ATM):c.1065+4C>T
|
rs1591511595
|
|
|
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)
|
rs1565378912
|
|
|
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys)
|
rs876660106
|
|
|
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)
|
rs551872656
|
|
|
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
|
NM_000051.4(ATM):c.1235+4A>G
|
rs786203147
|
|
|
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)
|
rs866521873
|
|
|
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
|
|
|
|
NM_000051.4(ATM):c.125A>T (p.His42Leu)
|
|
|
|
NM_000051.4(ATM):c.1262C>T (p.Ser421Leu)
|
|
|
|
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys)
|
rs1064796159
|
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
|
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)
|
rs760676955
|
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
|
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys)
|
rs781578507
|
|
|
NM_000051.4(ATM):c.1388C>A (p.Ala463Glu)
|
|
|
|
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)
|
rs876660485
|
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
|
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)
|
rs761850075
|
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr)
|
rs1555071682
|
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
|
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg)
|
rs1591527438
|
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
|
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)
|
rs878853488
|
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)
|
rs1555072017
|
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
|
NM_000051.4(ATM):c.1801A>C (p.Ser601Arg)
|
|
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
|
NM_000051.4(ATM):c.1849A>G (p.Met617Val)
|
rs1555072530
|
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
|
NM_000051.4(ATM):c.1899-17A>G
|
rs2135365023
|
|
|
NM_000051.4(ATM):c.1899-8T>A
|
|
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
|
NM_000051.4(ATM):c.1927C>G (p.Leu643Val)
|
rs1565389730
|
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
|
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)
|
rs1565389902
|
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
|
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)
|
rs1060501585
|
|
|
NM_000051.4(ATM):c.2048A>T (p.His683Leu)
|
|
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
|
NM_000051.4(ATM):c.2101C>T (p.Leu701Phe)
|
|
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
|
NM_000051.4(ATM):c.2235A>T (p.Leu745Phe)
|
|
|
|
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
|
|
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
|
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)
|
rs876660916
|
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
|
NM_000051.4(ATM):c.2380A>T (p.Ser794Cys)
|
rs876658149
|
|
|
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
|
|
|
|
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)
|
rs1060501651
|
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2436G>A (p.Met812Ile)
|
rs876658688
|
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
|
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
|
|
|
|
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
|
|
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
|
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
|
rs761251711
|
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
|
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)
|
rs1555082348
|
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
|
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)
|
rs113482790
|
|
|
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu)
|
rs2135524412
|
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
|
NM_000051.4(ATM):c.2725A>G (p.Thr909Ala)
|
|
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
|
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)
|
rs756969590
|
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
|
NM_000051.4(ATM):c.2773A>G (p.Arg925Gly)
|
|
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)
|
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
|
NM_000051.4(ATM):c.2988T>G (p.His996Gln)
|
rs559676197
|
|
|
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)
|
rs2135553747
|
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
|
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys)
|
rs186626274
|
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
|
NM_000051.4(ATM):c.305A>T (p.Lys102Ile)
|
rs1555055293
|
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
|
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)
|
rs1555085890
|
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
|
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)
|
rs766951228
|
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
|
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)
|
rs1460583900
|
|
|
NM_000051.4(ATM):c.3284+4A>G
|
rs1591610423
|
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
|
NM_000051.4(ATM):c.3307G>C (p.Asp1103His)
|
rs1555090114
|
|
|
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)
|
rs1555090118
|
|
|
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)
|
rs1479434069
|
|
|
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)
|
rs876658963
|
|
|
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)
|
rs1049900772
|
|
|
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)
|
rs752339681
|
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
|
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
|
|
|
|
NM_000051.4(ATM):c.3402+17T>G
|
|
|
|
NM_000051.4(ATM):c.3403-14_3403-13insG
|
rs1555091097
|
|
|
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)
|
rs786203048
|
|
|
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)
|
rs2135667225
|
|
|
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)
|
rs2082210652
|
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
|
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
|
|
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
|
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)
|
rs1060501708
|
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
|
NM_000051.4(ATM):c.359T>G (p.Leu120Arg)
|
|
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
|
NM_000051.4(ATM):c.3754T>C (p.Tyr1252His)
|
rs2135704307
|
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
|
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
|
|
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
|
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
|
NM_000051.4(ATM):c.3851C>T (p.Thr1284Ile)
|
rs1200767902
|
|
|
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)
|
rs786203851
|
|
|
NM_000051.4(ATM):c.3952G>C (p.Val1318Leu)
|
|
|
|
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly)
|
rs1565447790
|
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
|
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)
|
rs144535256
|
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
|
NM_000051.4(ATM):c.4088C>T (p.Thr1363Ile)
|
|
|
|
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)
|
rs876660576
|
|
|
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val)
|
rs1555096895
|
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
|
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)
|
rs768726324
|
|
|
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
|
|
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
|
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)
|
rs1369272813
|
|
|
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
|
|
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
|
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)
|
rs1555097538
|
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
|
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly)
|
rs982008501
|
|
|
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)
|
rs749770110
|
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
|
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)
|
rs2082684549
|
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
|
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)
|
rs1064793037
|
|
|
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro)
|
rs2135797205
|
|
|
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)
|
rs1565357194
|
|
|
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
|
|
|
|
NM_000051.4(ATM):c.4486G>C (p.Asp1496His)
|
|
|
|
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)
|
rs1064793476
|
|
|
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)
|
rs1555099878
|
|
|
NM_000051.4(ATM):c.4553A>G (p.His1518Arg)
|
rs762132832
|
|
|
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu)
|
rs969120822
|
|
|
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)
|
rs1555099997
|
|
|
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)
|
rs1365089723
|
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
|
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
|
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro)
|
rs1060501524
|
|
|
NM_000051.4(ATM):c.467G>C (p.Trp156Ser)
|
rs876658159
|
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
|
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)
|
rs781275128
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
|
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)
|
rs786203520
|
|
|
NM_000051.4(ATM):c.4858C>G (p.Gln1620Glu)
|
|
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
|
NM_000051.4(ATM):c.4909+5T>C
|
rs2083048367
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
|
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)
|
rs1591692969
|
|
|
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
|
NM_000051.4(ATM):c.5005+86T>A
|
|
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
|
NM_000051.4(ATM):c.5006-14A>C
|
rs2083314877
|
|
|
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)
|
rs2083319473
|
|
|
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)
|
rs1064794124
|
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
|
NM_000051.4(ATM):c.5064A>G (p.Ile1688Met)
|
|
|
|
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val)
|
rs587782551
|
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
|
NM_000051.4(ATM):c.5169AGA[1] (p.Glu1724del)
|
|
|
|
NM_000051.4(ATM):c.5178-3C>T
|
|
|
|
NM_000051.4(ATM):c.5178-3del
|
rs1555105575
|
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
|
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)
|
rs1591708460
|
|
|
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)
|
rs1591708658
|
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
|
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys)
|
rs2083497990
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
|
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)
|
rs2083501896
|
|
|
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)
|
rs878853521
|
|
|
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu)
|
rs1591712583
|
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
|
|
|
|
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)
|
rs1060501607
|
|
|
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys)
|
rs876658907
|
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
|
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)
|
rs1565481878
|
|
|
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)
|
rs1555107457
|
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
|
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
|
|
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
|
NM_000051.4(ATM):c.578C>T (p.Ala193Val)
|
rs1064793928
|
|
|
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)
|
rs786203668
|
|
|
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)
|
rs1555110379
|
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
|
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys)
|
rs1591746364
|
|
|
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)
|
rs876660515
|
|
|
NM_000051.4(ATM):c.5876A>T (p.Glu1959Val)
|
|
|
|
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)
|
rs1565490147
|
|
|
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)
|
rs1555110568
|
|
|
NM_000051.4(ATM):c.5918+14G>T
|
rs2136020496
|
|
|
NM_000051.4(ATM):c.5918+3A>G
|
rs1555110595
|
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
|
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly)
|
rs866824608
|
|
|
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)
|
rs2136063107
|
|
|
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)
|
rs730881378
|
|
|
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
|
|
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)
|
rs876659558
|
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
|
NM_000051.4(ATM):c.6175A>T (p.Thr2059Ser)
|
|
|
|
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)
|
rs1361215494
|
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
|
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)
|
rs1292617227
|
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
|
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)
|
rs773891864
|
|
|
NM_000051.4(ATM):c.6324G>T (p.Gln2108His)
|
rs2136169496
|
|
|
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr)
|
rs1591790360
|
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
|
NM_000051.4(ATM):c.6348-8T>A
|
|
|
|
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
|
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)
|
rs2079707663
|
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
|
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys)
|
rs1555116507
|
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
|
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg)
|
rs150408832
|
|
|
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)
|
rs138166710
|
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
|
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)
|
rs772850740
|
|
|
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro)
|
rs1060501573
|
|
|
NM_000051.4(ATM):c.6556G>A (p.Gly2186Arg)
|
rs2136242830
|
|
|
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr)
|
rs2085553784
|
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
|
NM_000051.4(ATM):c.663-194A>G
|
|
|
|
NM_000051.4(ATM):c.6641A>G (p.Asp2214Gly)
|
|
|
|
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn)
|
rs1482691031
|
|
|
NM_000051.4(ATM):c.6649T>A (p.Phe2217Ile)
|
|
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
|
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly)
|
rs1555119144
|
|
|
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)
|
rs1385625521
|
|
|
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)
|
rs1555119232
|
|
|
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)
|
rs1262434611
|
|
|
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)
|
rs863224578
|
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
|
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg)
|
rs786203332
|
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
|
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)
|
rs1283858462
|
|
|
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
|
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
|
NM_000051.4(ATM):c.6880G>A (p.Glu2294Lys)
|
|
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
|
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)
|
rs1591133875
|
|
|
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
|
|
|
|
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe)
|
rs876660924
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)
|
rs1064793312
|
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
|
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)
|
rs1197214197
|
|
|
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)
|
rs753951063
|
|
|
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)
|
rs730881314
|
|
|
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile)
|
rs1412288141
|
|
|
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro)
|
rs1169558907
|
|
|
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)
|
rs587782225
|
|
|
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr)
|
rs1215010771
|
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
|
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)
|
rs1555122090
|
|
|
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)
|
rs876658753
|
|
|
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val)
|
rs1565526813
|
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
|
NM_000051.4(ATM):c.7202T>G (p.Ile2401Ser)
|
|
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
|
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)
|
rs1591152450
|
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
|
NM_000051.4(ATM):c.7326G>T (p.Gln2442His)
|
rs1555122970
|
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
|
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)
|
rs1591160022
|
|
|
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)
|
rs879254201
|
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
|
NM_000051.4(ATM):c.7403A>C (p.Glu2468Ala)
|
|
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
|
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr)
|
rs759728261
|
|
|
NM_000051.4(ATM):c.7478A>G (p.Glu2493Gly)
|
|
|
|
NM_000051.4(ATM):c.748C>A (p.Arg250=)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)
|
rs1591161664
|
|
|
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu)
|
rs780931855
|
|
|
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)
|
rs2136491059
|
|
|
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala)
|
rs1480066803
|
|
|
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)
|
rs1555124455
|
|
|
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)
|
rs1565533613
|
|
|
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)
|
rs786202174
|
|
|
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
|
|
|
|
NM_000051.4(ATM):c.7701C>A (p.Asn2567Lys)
|
|
|
|
NM_000051.4(ATM):c.7735A>G (p.Arg2579Gly)
|
|
|
|
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
|
|
|
|
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)
|
rs863224581
|
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
|
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)
|
rs1591178767
|
|
|
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)
|
rs876660121
|
|
|
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)
|
rs2086422796
|
|
|
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val)
|
rs2136569929
|
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
|
NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser)
|
rs4988125
|
|
|
NM_000051.4(ATM):c.7921C>A (p.Gln2641Lys)
|
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
|
NM_000051.4(ATM):c.7927+6T>G
|
rs1591179460
|
|
|
NM_000051.4(ATM):c.7928-10T>G
|
rs188404773
|
|
|
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)
|
rs587781897
|
|
|
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg)
|
rs587781897
|
|
|
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)
|
rs786202219
|
|
|
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)
|
rs1591184384
|
|
|
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe)
|
rs1591184384
|
|
|
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
|
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu)
|
rs34099398
|
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
|
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)
|
rs730881320
|
|
|
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)
|
rs1555127166
|
|
|
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met)
|
rs2086684779
|
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
|
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)
|
rs876659351
|
|
|
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile)
|
rs730881385
|
|
|
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)
|
rs1555067189
|
|
|
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val)
|
rs1555128280
|
|
|
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)
|
rs1215175886
|
|
|
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)
|
rs1591504377
|
|
|
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
|
|
|
|
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)
|
rs2086800136
|
|
|
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)
|
rs1284049490
|
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile)
|
rs730881322
|
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
|
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)
|
rs2087823795
|
|
|
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
|
|
|
|
NM_000051.4(ATM):c.8400G>T (p.Gln2800His)
|
rs879253901
|
|
|
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
|
|
|
|
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)
|
rs1359195708
|
|
|
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)
|
rs786202372
|
|
|
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
|
|
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
|
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)
|
rs876659505
|
|
|
NM_000051.4(ATM):c.8584+4A>G
|
rs1555138484
|
|
|
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro)
|
rs1555139517
|
|
|
NM_000051.4(ATM):c.8666A>C (p.Asp2889Ala)
|
|
|
|
NM_000051.4(ATM):c.866T>A (p.Ile289Asn)
|
|
|
|
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys)
|
rs1565567541
|
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
|
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp)
|
rs1591306536
|
|
|
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu)
|
rs2137287369
|
|
|
NM_000051.4(ATM):c.871C>G (p.His291Asp)
|
rs1555067280
|
|
|
NM_000051.4(ATM):c.8737G>C (p.Asp2913His)
|
rs756899044
|
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
|
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser)
|
rs1060501563
|
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
|
NM_000051.4(ATM):c.8850+12dup
|
rs1555143639
|
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
|
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)
|
rs786203613
|
|
|
NM_000051.4(ATM):c.8923G>C (p.Glu2975Gln)
|
rs2091208125
|
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
|
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile)
|
rs1472935232
|
|
|
NM_000051.4(ATM):c.894A>C (p.Gln298His)
|
rs1555067327
|
|
|
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)
|
rs747445236
|
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
|
NM_000051.4(ATM):c.8988-27C>G
|
|
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
|
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)
|
rs540172506
|
|
|
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)
|
rs1565608897
|
|
|
NM_000051.4(ATM):c.9025G>A (p.Val3009Ile)
|
|
|
|
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro)
|
rs587781630
|
|
|
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)
|
rs1565609342
|
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
|
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys)
|
rs587781711
|
|
|
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)
|
rs1555152104
|
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
|
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
|
|
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
|
NM_000051.4(ATM):c.937T>C (p.Tyr313His)
|
|
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
|
NM_000051.4(ATM):c.982A>G (p.Ser328Gly)
|
rs1555068433
|
|
|
NM_000051.4(ATM):c.984_986del (p.Ser328del)
|
rs876659593
|
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
|
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
|
rs762179829
|
|
|
NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)
|
rs1566260060
|
|
|
NM_000059.4(BRCA2):c.-152T>C
|
|
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
|
NM_000059.4(BRCA2):c.10195G>T (p.Ala3399Ser)
|
rs1057521734
|
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
|
NM_000059.4(BRCA2):c.10232C>T (p.Thr3411Ile)
|
rs864622402
|
|
|
NM_000059.4(BRCA2):c.10235T>G (p.Ile3412Ser)
|
rs1057524418
|
|
|
NM_000059.4(BRCA2):c.1110A>G (p.Val370=)
|
rs1566222766
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met)
|
rs1555281784
|
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)
|
rs2137469817
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1313A>T (p.Asp438Val)
|
rs2137470041
|
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val)
|
rs1555281924
|
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
rs138734772
|
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
|
NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val)
|
rs759415233
|
|
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
rs1555282036
|
|
|
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu)
|
rs80358478
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
|
NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile)
|
|
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
|
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)
|
rs876658614
|
|
|
NM_000059.4(BRCA2):c.2093_2095del (p.Leu698del)
|
rs1555282435
|
|
|
NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)
|
|
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2244C>T (p.Tyr748=)
|
rs1555282563
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
rs80358501
|
|
|
NM_000059.4(BRCA2):c.238A>C (p.Ile80Leu)
|
|
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)
|
rs1174270999
|
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)
|
rs397507293
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
|
NM_000059.4(BRCA2):c.296A>G (p.Asp99Gly)
|
rs864622276
|
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
|
NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del)
|
rs754836679
|
|
|
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del)
|
rs1064795908
|
|
|
NM_000059.4(BRCA2):c.316+6T>C
|
rs81002900
|
|
|
NM_000059.4(BRCA2):c.317-8T>C
|
|
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
|
|
NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr)
|
rs1172322930
|
|
|
NM_000059.4(BRCA2):c.3233T>G (p.Val1078Gly)
|
rs1270386176
|
|
|
NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)
|
rs2137494760
|
|
|
NM_000059.4(BRCA2):c.3292A>T (p.Asn1098Tyr)
|
rs2137495145
|
|
|
NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys)
|
rs2138698291
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)
|
rs864622363
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.3634_3639del (p.Asn1212_Glu1213del)
|
rs774186567
|
|
|
NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)
|
rs1218108009
|
|
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
rs1555283341
|
|
|
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)
|
rs587782723
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3875T>A (p.Leu1292Gln)
|
rs1555283446
|
|
|
NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)
|
rs2137501297
|
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)
|
rs2137502159
|
|
|
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)
|
rs1555283519
|
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
|
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)
|
rs1060502441
|
|
|
NM_000059.4(BRCA2):c.410C>T (p.Ser137Phe)
|
|
|
|
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)
|
rs587782157
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.425+3A>G
|
rs932657676
|
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
rs539929888
|
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
|
NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)
|
rs886039317
|
|
|
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)
|
rs757821270
|
|
|
NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)
|
rs1555283775
|
|
|
NM_000059.4(BRCA2):c.4489G>T (p.Val1497Phe)
|
rs1271777808
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4679G>A (p.Ser1560Asn)
|
rs2137508985
|
|
|
NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val)
|
rs766833528
|
|
|
NM_000059.4(BRCA2):c.475+4T>C
|
rs746963311
|
|
|
NM_000059.4(BRCA2):c.475+5G>A
|
rs730881504
|
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
|
NM_000059.4(BRCA2):c.4764C>T (p.Ala1588=)
|
rs2137509962
|
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)
|
rs1555283982
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
|
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)
|
rs80358726
|
|
|
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)
|
rs773707172
|
|
|
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)
|
rs41293469
|
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
|
NM_000059.4(BRCA2):c.5298T>A (p.Asn1766Lys)
|
rs276174856
|
|
|
NM_000059.4(BRCA2):c.5323G>C (p.Val1775Leu)
|
rs1555284171
|
|
|
NM_000059.4(BRCA2):c.5334T>A (p.Asn1778Lys)
|
rs1566232224
|
|
|
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)
|
rs1555284184
|
|
|
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)
|
rs80358761
|
|
|
NM_000059.4(BRCA2):c.5413A>G (p.Asn1805Asp)
|
rs1555284211
|
|
|
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)
|
rs1593905700
|
|
|
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp)
|
rs483352930
|
|
|
NM_000059.4(BRCA2):c.560A>T (p.Glu187Val)
|
rs2072349711
|
|
|
NM_000059.4(BRCA2):c.5647A>G (p.Lys1883Glu)
|
|
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
rs1060502413
|
|
|
NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg)
|
rs1555284478
|
|
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
rs376582345
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
rs80358835
|
|
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
rs398122544
|
|
|
NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile)
|
rs397507363
|
|
|
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)
|
rs1555284531
|
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro)
|
rs2072551841
|
|
|
NM_000059.4(BRCA2):c.631+6A>C
|
rs1555281108
|
|
|
NM_000059.4(BRCA2):c.632-3_632-2del
|
rs431825341
|
|
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
rs397507846
|
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
rs750084851
|
|
|
NM_000059.4(BRCA2):c.6503G>C (p.Gly2168Ala)
|
rs397507372
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)
|
rs1372423132
|
|
|
NM_000059.4(BRCA2):c.6599_6601del (p.Phe2200del)
|
|
|
|
NM_000059.4(BRCA2):c.67+225G>A
|
|
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
|
NM_000059.4(BRCA2):c.673ACT[1] (p.Thr226del)
|
rs1566220661
|
|
|
NM_000059.4(BRCA2):c.674C>T (p.Thr225Ile)
|
rs1555281361
|
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
|
NM_000059.4(BRCA2):c.681+4A>T
|
rs397507884
|
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
|
NM_000059.4(BRCA2):c.682-8T>A
|
rs2137461032
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6863A>T (p.Asn2288Ile)
|
rs398122569
|
|
|
NM_000059.4(BRCA2):c.6884G>A (p.Arg2295Lys)
|
|
|
|
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)
|
rs1566236920
|
|
|
NM_000059.4(BRCA2):c.6907T>C (p.Ser2303Pro)
|
rs1060502494
|
|
|
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
|
NM_000059.4(BRCA2):c.6972T>G (p.His2324Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.6995G>A (p.Cys2332Tyr)
|
rs786202536
|
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
|
NM_000059.4(BRCA2):c.7021C>G (p.Arg2341Gly)
|
rs41293505
|
|
|
NM_000059.4(BRCA2):c.7045T>C (p.Phe2349Leu)
|
rs1555285984
|
|
|
NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr)
|
rs776714935
|
|
|
NM_000059.4(BRCA2):c.7082A>G (p.His2361Arg)
|
rs876659579
|
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
|
NM_000059.4(BRCA2):c.7125A>T (p.Leu2375Phe)
|
|
|
|
NM_000059.4(BRCA2):c.7142C>A (p.Pro2381Gln)
|
rs746751519
|
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys)
|
rs1302207132
|
|
|
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu)
|
rs1555286046
|
|
|
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro)
|
rs876659118
|
|
|
NM_000059.4(BRCA2):c.7284G>C (p.Leu2428Phe)
|
rs2137557628
|
|
|
NM_000059.4(BRCA2):c.7284G>T (p.Leu2428Phe)
|
|
|
|
NM_000059.4(BRCA2):c.7304A>G (p.Gln2435Arg)
|
rs786202355
|
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
|
NM_000059.4(BRCA2):c.7343A>G (p.Lys2448Arg)
|
rs431825353
|
|
|
NM_000059.4(BRCA2):c.7385C>T (p.Ser2462Phe)
|
rs2137558613
|
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7429C>T (p.Pro2477Ser)
|
rs80358964
|
|
|
NM_000059.4(BRCA2):c.743C>T (p.Ala248Val)
|
rs276174893
|
|
|
NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)
|
rs1064793329
|
|
|
NM_000059.4(BRCA2):c.7478T>G (p.Met2493Arg)
|
rs863224597
|
|
|
NM_000059.4(BRCA2):c.7514C>A (p.Pro2505Gln)
|
|
|
|
NM_000059.4(BRCA2):c.7526G>A (p.Ser2509Asn)
|
rs1555286271
|
|
|
NM_000059.4(BRCA2):c.7549A>G (p.Thr2517Ala)
|
rs2072697978
|
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
|
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)
|
rs397507388
|
|
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
rs967458408
|
|
|
NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala)
|
rs786204150
|
|
|
NM_000059.4(BRCA2):c.7609C>T (p.His2537Tyr)
|
rs1555286310
|
|
|
NM_000059.4(BRCA2):c.7612A>G (p.Lys2538Glu)
|
rs397507921
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)
|
rs397507926
|
|
|
NM_000059.4(BRCA2):c.763A>C (p.Asn255His)
|
rs2072386794
|
|
|
NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)
|
rs2072708250
|
|
|
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu)
|
rs41293507
|
|
|
NM_000059.4(BRCA2):c.7670C>T (p.Ala2557Val)
|
rs775219538
|
|
|
NM_000059.4(BRCA2):c.7674G>C (p.Glu2558Asp)
|
rs730881558
|
|
|
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)
|
rs1060502421
|
|
|
NM_000059.4(BRCA2):c.7679T>C (p.Phe2560Ser)
|
rs376460800
|
|
|
NM_000059.4(BRCA2):c.7684T>A (p.Phe2562Ile)
|
rs80358995
|
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
|
NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
|
NM_000059.4(BRCA2):c.7819A>G (p.Thr2607Ala)
|
rs80359008
|
|
|
NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)
|
rs1555286821
|
|
|
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met)
|
rs587780661
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
|
NM_000059.4(BRCA2):c.7887G>T (p.Trp2629Cys)
|
rs886040734
|
|
|
NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val)
|
rs1207483065
|
|
|
NM_000059.4(BRCA2):c.7909G>C (p.Ala2637Pro)
|
rs1593924159
|
|
|
NM_000059.4(BRCA2):c.7910C>T (p.Ala2637Val)
|
rs730881561
|
|
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
rs1403242422
|
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
|
NM_000059.4(BRCA2):c.7951A>G (p.Arg2651Gly)
|
rs1555286865
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
|
NM_000059.4(BRCA2):c.7958T>G (p.Leu2653Arg)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7966C>G (p.Leu2656Val)
|
rs2072748978
|
|
|
NM_000059.4(BRCA2):c.7977-6T>C
|
|
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
rs80359043
|
|
|
NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)
|
rs186224762
|
|
|
NM_000059.4(BRCA2):c.8138C>A (p.Thr2713Asn)
|
rs994319321
|
|
|
NM_000059.4(BRCA2):c.8140C>G (p.Gln2714Glu)
|
rs80359058
|
|
|
NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)
|
rs80359067
|
|
|
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)
|
rs730881564
|
|
|
NM_000059.4(BRCA2):c.8206C>G (p.Leu2736Val)
|
rs1555287042
|
|
|
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)
|
rs1555287042
|
|
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
rs1555287046
|
|
|
NM_000059.4(BRCA2):c.8239G>A (p.Val2747Ile)
|
rs397507398
|
|
|
NM_000059.4(BRCA2):c.8255TTC[1] (p.Leu2753del)
|
rs397507971
|
|
|
NM_000059.4(BRCA2):c.8261A>G (p.His2754Arg)
|
rs1555287066
|
|
|
NM_000059.4(BRCA2):c.8294G>A (p.Cys2765Tyr)
|
rs112343538
|
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser)
|
|
|
|
NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)
|
rs143761565
|
|
|
NM_000059.4(BRCA2):c.8323A>C (p.Met2775Leu)
|
rs767209209
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
|
NM_000059.4(BRCA2):c.8396G>A (p.Arg2799Lys)
|
|
|
|
NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)
|
rs1060502398
|
|
|
NM_000059.4(BRCA2):c.8429G>A (p.Ser2810Asn)
|
rs2072821561
|
|
|
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)
|
rs1555281610
|
|
|
NM_000059.4(BRCA2):c.8434GGA[1] (p.Gly2813del)
|
rs397507986
|
|
|
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr)
|
rs431825366
|
|
|
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)
|
rs80359098
|
|
|
NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)
|
rs950154005
|
|
|
NM_000059.4(BRCA2):c.8488-15A>G
|
rs775192142
|
|
|
NM_000059.4(BRCA2):c.8488-3C>A
|
rs1566249158
|
|
|
NM_000059.4(BRCA2):c.8491A>T (p.Met2831Leu)
|
rs760663398
|
|
|
NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)
|
rs876658951
|
|
|
NM_000059.4(BRCA2):c.8498A>C (p.Lys2833Thr)
|
|
|
|
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)
|
rs863224599
|
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
|
NM_000059.4(BRCA2):c.8591C>T (p.Ala2864Val)
|
rs80359116
|
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
|
NM_000059.4(BRCA2):c.8627A>C (p.His2876Pro)
|
rs1060502470
|
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
|
NM_000059.4(BRCA2):c.8633-1259A>G
|
|
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
|
NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)
|
rs80359127
|
|
|
NM_000059.4(BRCA2):c.8697A>G (p.Gln2899=)
|
rs786203707
|
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
|
NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val)
|
rs80359129
|
|
|
NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)
|
rs876660226
|
|
|
NM_000059.4(BRCA2):c.8755-11A>G
|
rs1371032020
|
|
|
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys)
|
rs1334458965
|
|
|
NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser)
|
rs397508008
|
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
|
NM_000059.4(BRCA2):c.8819A>G (p.Lys2940Arg)
|
rs200157227
|
|
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)
|
rs1064793691
|
|
|
NM_000059.4(BRCA2):c.8863G>A (p.Ala2955Thr)
|
rs1566252676
|
|
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
rs878853614
|
|
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
rs771267741
|
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
|
NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)
|
rs1555280096
|
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
|
NM_000059.4(BRCA2):c.9010A>G (p.Lys3004Glu)
|
rs954148397
|
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
|
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)
|
rs397507417
|
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9053G>A (p.Ser3018Asn)
|
rs398122720
|
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
|
NM_000059.4(BRCA2):c.9102G>T (p.Gln3034His)
|
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9118-5T>A
|
rs879255299
|
|
|
NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala)
|
rs587781606
|
|
|
NM_000059.4(BRCA2):c.9135A>T (p.Leu3045Phe)
|
|
|
|
NM_000059.4(BRCA2):c.9159G>C (p.Glu3053Asp)
|
rs1289660997
|
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
|
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr)
|
rs80359177
|
|
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
rs747837583
|
|
|
NM_000059.4(BRCA2):c.9211G>A (p.Glu3071Lys)
|
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr)
|
rs730881570
|
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
|
NM_000059.4(BRCA2):c.9301C>G (p.Leu3101Val)
|
rs80359202
|
|
|
NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg)
|
rs61754140
|
|
|
NM_000059.4(BRCA2):c.9325C>T (p.Leu3109Phe)
|
rs1593199703
|
|
|
NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)
|
rs1555289545
|
|
|
NM_000059.4(BRCA2):c.9345G>C (p.Lys3115Asn)
|
rs2137652892
|
|
|
NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)
|
rs2073022451
|
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
|
NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro)
|
rs397507426
|
|
|
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)
|
rs397507426
|
|
|
NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)
|
rs80359215
|
|
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
rs80359216
|
|
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
rs80359220
|
|
|
NM_000059.4(BRCA2):c.9461A>G (p.His3154Arg)
|
rs2073024987
|
|
|
NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)
|
rs876658597
|
|
|
NM_000059.4(BRCA2):c.9502A>T (p.Asn3168Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.9513_9515del (p.Leu3172del)
|
rs80359768
|
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
|
NM_000059.4(BRCA2):c.9565C>G (p.Pro3189Ala)
|
rs772385867
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000059.4(BRCA2):c.9628G>T (p.Gly3210Cys)
|
|
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
|
NM_000059.4(BRCA2):c.9668A>G (p.Glu3223Gly)
|
|
|
|
NM_000059.4(BRCA2):c.9685C>T (p.Pro3229Ser)
|
rs1064793542
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.9707A>G (p.Lys3236Arg)
|
rs980577419
|
|
|
NM_000059.4(BRCA2):c.9742A>G (p.Met3248Val)
|
rs876659778
|
|
|
NM_000059.4(BRCA2):c.9783C>G (p.Asp3261Glu)
|
|
|
|
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)
|
rs398122624
|
|
|
NM_000059.4(BRCA2):c.9874C>T (p.Pro3292Ser)
|
rs876660917
|
|
|
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser)
|
rs1566261153
|
|
|
NM_000059.4(BRCA2):c.9906G>C (p.Arg3302Ser)
|
|
|
|
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys)
|
rs876659538
|
|
|
NM_000059.4(BRCA2):c.9919A>G (p.Lys3307Glu)
|
|
|
|
NM_000059.4(BRCA2):c.9931C>T (p.Pro3311Ser)
|
rs1275047772
|
|
|
NM_000059.4(BRCA2):c.9941A>G (p.Lys3314Arg)
|
rs1566261206
|
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
|
NM_000059.4(BRCA2):c.9946G>A (p.Glu3316Lys)
|
rs758051959
|
|
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
rs1555290016
|
|
|
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His)
|
rs1563888782
|
|
|
NM_000093.5(COL5A1):c.3055C>G (p.Pro1019Ala)
|
rs193920927
|
|
|
NM_000110.4(DPYD):c.1340-3C>G
|
rs193920862
|
|
|
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)
|
rs200832611
|
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
|
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
|
|
|
|
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
|
|
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
|
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
|
|
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
|
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
|
|
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
|
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
|
|
|
|
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
|
|
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
|
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
|
|
|
|
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
|
|
|
|
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
|
|
|
|
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
|
|
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
|
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
|
|
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
|
NM_000127.3(EXT1):c.1883+5G>A
|
|
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
|
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
|
|
|
|
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
|
|
|
|
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
|
|
|
|
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
|
|
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
|
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
|
|
|
|
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
|
|
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
|
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
|
|
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
|
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
|
|
|
|
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
|
|
|
|
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
|
|
|
|
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
|
|
|
|
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
|
|
|
|
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
|
|
|
|
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
|
|
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
|
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
|
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
|
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
|
|
|
|
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
|
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
|
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
|
|
|
|
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
|
|
|
|
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
|
|
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
|
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)
|
|
|
|
NM_000130.5(F5):c.2127G>A (p.Met709Ile)
|
rs193920869
|
|
|
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly)
|
|
|
|
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu)
|
|
|
|
NM_000136.3(FANCC):c.1155-14T>G
|
rs2134552606
|
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.1330-19_1330-10del
|
rs1389222142
|
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
|
NM_000136.3(FANCC):c.541G>C (p.Ala181Pro)
|
rs2135428686
|
|
|
NM_000136.3(FANCC):c.697T>C (p.Ser233Pro)
|
rs1827537931
|
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
|
NM_000136.3(FANCC):c.997-9C>G
|
rs774886992
|
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
|
NM_000141.5(FGFR2):c.-17G>C
|
rs766629665
|
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
|
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA
|
rs2133978031
|
|
|
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)
|
rs1564875549
|
|
|
NM_000141.5(FGFR2):c.1986+23G>C
|
rs1845634185
|
|
|
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)
|
rs771208561
|
|
|
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp)
|
rs1277734487
|
|
|
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)
|
rs2134317947
|
|
|
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr)
|
rs748526473
|
|
|
NM_000142.5(FGFR3):c.1837-3C>T
|
rs1721872448
|
|
|
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)
|
rs1448029825
|
|
|
NM_000142.5(FGFR3):c.1960-16T>C
|
rs1721900734
|
|
|
NM_000143.4(FH):c.1243A>G (p.Asn415Asp)
|
rs1659748903
|
|
|
NM_000176.3(NR3C1):c.1244G>T (p.Gly415Val)
|
rs193921137
|
|
|
NM_000179.2(MSH6):c.-152-?_4001+?dup
|
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
|
NM_000179.3(MSH6):c.*34G>C
|
rs184571812
|
|
|
NM_000179.3(MSH6):c.-1T>C
|
rs1057522403
|
|
|
NM_000179.3(MSH6):c.-41G>T
|
rs886056140
|
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
|
NM_000179.3(MSH6):c.-51G>T
|
rs375109921
|
|
|
NM_000179.3(MSH6):c.1000A>C (p.Lys334Gln)
|
|
|
|
NM_000179.3(MSH6):c.1000A>G (p.Lys334Glu)
|
|
|
|
NM_000179.3(MSH6):c.1001A>G (p.Lys334Arg)
|
rs1558660066
|
|
|
NM_000179.3(MSH6):c.1002G>T (p.Lys334Asn)
|
rs1669283147
|
|
|
NM_000179.3(MSH6):c.1003A>C (p.Asn335His)
|
|
|
|
NM_000179.3(MSH6):c.1006A>C (p.Thr336Pro)
|
rs1572721235
|
|
|
NM_000179.3(MSH6):c.1006A>G (p.Thr336Ala)
|
rs1572721235
|
|
|
NM_000179.3(MSH6):c.1009T>A (p.Leu337Met)
|
rs1669284367
|
|
|
NM_000179.3(MSH6):c.100G>A (p.Ala34Thr)
|
rs1553408194
|
|
|
NM_000179.3(MSH6):c.1010T>C (p.Leu337Ser)
|
rs1572721244
|
|
|
NM_000179.3(MSH6):c.1013G>T (p.Arg338Ile)
|
rs2104313445
|
|
|
NM_000179.3(MSH6):c.1014A>C (p.Arg338Ser)
|
|
|
|
NM_000179.3(MSH6):c.1015G>A (p.Ala339Thr)
|
|
|
|
NM_000179.3(MSH6):c.1016C>A (p.Ala339Asp)
|
rs587780669
|
|
|
NM_000179.3(MSH6):c.1016C>G (p.Ala339Gly)
|
rs587780669
|
|
|
NM_000179.3(MSH6):c.1016C>T (p.Ala339Val)
|
rs587780669
|
|
|
NM_000179.3(MSH6):c.1018T>C (p.Phe340Leu)
|
|
|
|
NM_000179.3(MSH6):c.101C>T (p.Ala34Val)
|
rs746624223
|
|
|
NM_000179.3(MSH6):c.1022C>A (p.Ser341Tyr)
|
rs766202031
|
|
|
NM_000179.3(MSH6):c.1022C>G (p.Ser341Cys)
|
rs766202031
|
|
|
NM_000179.3(MSH6):c.1027C>T (p.Pro343Ser)
|
rs1572721313
|
|
|
NM_000179.3(MSH6):c.1028C>A (p.Pro343His)
|
rs548898238
|
|
|
NM_000179.3(MSH6):c.1028C>G (p.Pro343Arg)
|
rs548898238
|
|
|
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del)
|
rs1553408197
|
|
|
NM_000179.3(MSH6):c.1030C>G (p.Gln344Glu)
|
rs730881815
|
|
|
NM_000179.3(MSH6):c.1032A>C (p.Gln344His)
|
rs1572721339
|
|
|
NM_000179.3(MSH6):c.1034A>G (p.Asn345Ser)
|
rs864622377
|
|
|
NM_000179.3(MSH6):c.1035T>A (p.Asn345Lys)
|
rs765166082
|
|
|
NM_000179.3(MSH6):c.1035T>G (p.Asn345Lys)
|
rs765166082
|
|
|
NM_000179.3(MSH6):c.1036_1037delinsAA (p.Ser346Asn)
|
rs1669287149
|
|
|
NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)
|
rs567785169
|
|
|
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)
|
rs567785169
|
|
|
NM_000179.3(MSH6):c.103G>A (p.Ala35Thr)
|
rs1572698023
|
|
|
NM_000179.3(MSH6):c.103G>T (p.Ala35Ser)
|
rs1572698023
|
|
|
NM_000179.3(MSH6):c.1040A>T (p.Glu347Val)
|
rs2104315582
|
|
|
NM_000179.3(MSH6):c.1043C>A (p.Ser348Tyr)
|
rs758432113
|
|
|
NM_000179.3(MSH6):c.1045C>G (p.Gln349Glu)
|
rs863224473
|
|
|
NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)
|
rs869312797
|
|
|
NM_000179.3(MSH6):c.1048G>A (p.Ala350Thr)
|
|
|
|
NM_000179.3(MSH6):c.1048G>C (p.Ala350Pro)
|
rs1425548621
|
|
|
NM_000179.3(MSH6):c.1049C>G (p.Ala350Gly)
|
rs587782331
|
|
|
NM_000179.3(MSH6):c.104C>T (p.Ala35Val)
|
rs776547943
|
|
|
NM_000179.3(MSH6):c.1051C>T (p.His351Tyr)
|
rs587779911
|
|
|
NM_000179.3(MSH6):c.1051_1053del (p.His351del)
|
rs1669288901
|
|
|
NM_000179.3(MSH6):c.1052A>G (p.His351Arg)
|
rs730881786
|
|
|
NM_000179.3(MSH6):c.1053C>A (p.His351Gln)
|
rs28903083
|
|
|
NM_000179.3(MSH6):c.1054G>C (p.Val352Leu)
|
rs730881787
|
|
|
NM_000179.3(MSH6):c.1054G>T (p.Val352Phe)
|
rs730881787
|
|
|
NM_000179.3(MSH6):c.1058G>T (p.Ser353Ile)
|
rs1465861885
|
|
|
NM_000179.3(MSH6):c.1060G>A (p.Gly354Arg)
|
|
|
|
NM_000179.3(MSH6):c.1061G>A (p.Gly354Glu)
|
rs730881788
|
|
|
NM_000179.3(MSH6):c.1063G>C (p.Gly355Arg)
|
rs587778531
|
|
|
NM_000179.3(MSH6):c.1064G>A (p.Gly355Asp)
|
rs1572721518
|
|
|
NM_000179.3(MSH6):c.1067G>A (p.Gly356Asp)
|
rs776170146
|
|
|
NM_000179.3(MSH6):c.1067G>T (p.Gly356Val)
|
|
|
|
NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)
|
rs771529531
|
|
|
NM_000179.3(MSH6):c.1072G>C (p.Asp358His)
|
rs772747395
|
|
|
NM_000179.3(MSH6):c.1073A>G (p.Asp358Gly)
|
|
|
|
NM_000179.3(MSH6):c.1074C>G (p.Asp358Glu)
|
rs760311819
|
|
|
NM_000179.3(MSH6):c.1075A>G (p.Ser359Gly)
|
rs1553412468
|
|
|
NM_000179.3(MSH6):c.1076G>A (p.Ser359Asn)
|
rs1278591662
|
|
|
NM_000179.3(MSH6):c.1078A>C (p.Ser360Arg)
|
rs145994565
|
|
|
NM_000179.3(MSH6):c.1079G>A (p.Ser360Asn)
|
rs267608060
|
|
|
NM_000179.3(MSH6):c.1079G>T (p.Ser360Ile)
|
rs267608060
|
|
|
NM_000179.3(MSH6):c.1083_1088del (p.Pro362_Thr363del)
|
|
|
|
NM_000179.3(MSH6):c.1084C>G (p.Pro362Ala)
|
rs2104318533
|
|
|
NM_000179.3(MSH6):c.1084C>T (p.Pro362Ser)
|
|
|
|
NM_000179.3(MSH6):c.1085C>G (p.Pro362Arg)
|
rs759359754
|
|
|
NM_000179.3(MSH6):c.1087_1089dup (p.Thr363dup)
|
rs1060502874
|
|
|
NM_000179.3(MSH6):c.1088C>G (p.Thr363Ser)
|
rs1243909922
|
|
|
NM_000179.3(MSH6):c.1090G>A (p.Val364Ile)
|
rs1437629945
|
|
|
NM_000179.3(MSH6):c.1091T>A (p.Val364Asp)
|
|
|
|
NM_000179.3(MSH6):c.1091T>C (p.Val364Ala)
|
rs2104319027
|
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
|
NM_000179.3(MSH6):c.1093T>G (p.Trp365Gly)
|
rs752628520
|
|
|
NM_000179.3(MSH6):c.1094G>C (p.Trp365Ser)
|
rs587780558
|
|
|
NM_000179.3(MSH6):c.1097_1099delinsGGT (p.Tyr366_His367delinsTrpTyr)
|
rs2104319421
|
|
|
NM_000179.3(MSH6):c.1099C>G (p.His367Asp)
|
|
|
|
NM_000179.3(MSH6):c.109G>A (p.Ala37Thr)
|
rs775487116
|
|
|
NM_000179.3(MSH6):c.10C>G (p.Gln4Glu)
|
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
|
NM_000179.3(MSH6):c.1100A>T (p.His367Leu)
|
|
|
|
NM_000179.3(MSH6):c.1102G>A (p.Glu368Lys)
|
rs1572721686
|
|
|
NM_000179.3(MSH6):c.1103A>G (p.Glu368Gly)
|
rs1572721697
|
|
|
NM_000179.3(MSH6):c.1106C>G (p.Thr369Ser)
|
rs375974046
|
|
|
NM_000179.3(MSH6):c.1108T>G (p.Leu370Val)
|
|
|
|
NM_000179.3(MSH6):c.1111G>A (p.Glu371Lys)
|
rs1336187952
|
|
|
NM_000179.3(MSH6):c.1111G>C (p.Glu371Gln)
|
|
|
|
NM_000179.3(MSH6):c.1115G>C (p.Trp372Ser)
|
rs1114167731
|
|
|
NM_000179.3(MSH6):c.1117C>G (p.Leu373Val)
|
rs1060502915
|
|
|
NM_000179.3(MSH6):c.1118T>C (p.Leu373Pro)
|
|
|
|
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu)
|
rs1558660575
|
|
|
NM_000179.3(MSH6):c.1124A>T (p.Glu375Val)
|
|
|
|
NM_000179.3(MSH6):c.1125G>C (p.Glu375Asp)
|
|
|
|
NM_000179.3(MSH6):c.1128A>T (p.Glu376Asp)
|
rs1553412518
|
|
|
NM_000179.3(MSH6):c.1129A>C (p.Lys377Gln)
|
rs786202609
|
|
|
NM_000179.3(MSH6):c.112C>G (p.Pro38Ala)
|
rs764009461
|
|
|
NM_000179.3(MSH6):c.1130A>C (p.Lys377Thr)
|
rs550221570
|
|
|
NM_000179.3(MSH6):c.1131G>T (p.Lys377Asn)
|
rs878853699
|
|
|
NM_000179.3(MSH6):c.1134A>C (p.Arg378Ser)
|
rs878853700
|
|
|
NM_000179.3(MSH6):c.1136G>A (p.Arg379Lys)
|
rs1669298589
|
|
|
NM_000179.3(MSH6):c.1136G>C (p.Arg379Thr)
|
|
|
|
NM_000179.3(MSH6):c.1137A>C (p.Arg379Ser)
|
rs1572721819
|
|
|
NM_000179.3(MSH6):c.1138G>A (p.Asp380Asn)
|
rs1064793521
|
|
|
NM_000179.3(MSH6):c.1138G>C (p.Asp380His)
|
rs1064793521
|
|
|
NM_000179.3(MSH6):c.1139A>G (p.Asp380Gly)
|
rs1114167779
|
|
|
NM_000179.3(MSH6):c.1139A>T (p.Asp380Val)
|
rs1114167779
|
|
|
NM_000179.3(MSH6):c.113C>A (p.Pro38His)
|
rs1553408211
|
|
|
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu)
|
rs1553408211
|
|
|
NM_000179.3(MSH6):c.1145A>C (p.His382Pro)
|
rs1558660701
|
|
|
NM_000179.3(MSH6):c.1145A>G (p.His382Arg)
|
rs1558660701
|
|
|
NM_000179.3(MSH6):c.1146C>A (p.His382Gln)
|
rs1572721856
|
|
|
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del)
|
rs267608043
|
|
|
NM_000179.3(MSH6):c.1149G>T (p.Arg383Ser)
|
rs749800983
|
|
|
NM_000179.3(MSH6):c.1151G>A (p.Arg384Lys)
|
rs730881789
|
|
|
NM_000179.3(MSH6):c.1153A>T (p.Arg385Trp)
|
rs781652274
|
|
|
NM_000179.3(MSH6):c.1154G>A (p.Arg385Lys)
|
|
|
|
NM_000179.3(MSH6):c.1155G>T (p.Arg385Ser)
|
|
|
|
NM_000179.3(MSH6):c.1156C>T (p.Pro386Ser)
|
rs2104323645
|
|
|
NM_000179.3(MSH6):c.1157C>T (p.Pro386Leu)
|
rs2104323733
|
|
|
NM_000179.3(MSH6):c.1159G>A (p.Asp387Asn)
|
rs746532720
|
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
|
NM_000179.3(MSH6):c.1162C>T (p.His388Tyr)
|
rs770386388
|
|
|
NM_000179.3(MSH6):c.1163A>C (p.His388Pro)
|
rs786201185
|
|
|
NM_000179.3(MSH6):c.1165C>A (p.Pro389Thr)
|
|
|
|
NM_000179.3(MSH6):c.1166C>G (p.Pro389Arg)
|
rs1572721950
|
|
|
NM_000179.3(MSH6):c.1166C>T (p.Pro389Leu)
|
rs1572721950
|
|
|
NM_000179.3(MSH6):c.116G>C (p.Gly39Ala)
|
rs1042821
|
|
|
NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)
|
rs55882234
|
|
|
NM_000179.3(MSH6):c.1174G>C (p.Asp392His)
|
|
|
|
NM_000179.3(MSH6):c.1175A>T (p.Asp392Val)
|
rs1064794625
|
|
|
NM_000179.3(MSH6):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_000179.3(MSH6):c.1177G>C (p.Ala393Pro)
|
rs1669304152
|
|
|
NM_000179.3(MSH6):c.1180T>C (p.Ser394Pro)
|
rs1553412587
|
|
|
NM_000179.3(MSH6):c.1180T>G (p.Ser394Ala)
|
rs1553412587
|
|
|
NM_000179.3(MSH6):c.1181C>A (p.Ser394Tyr)
|
rs1410933611
|
|
|
NM_000179.3(MSH6):c.1183A>G (p.Thr395Ala)
|
rs1553412594
|
|
|
NM_000179.3(MSH6):c.1184C>T (p.Thr395Ile)
|
rs767658494
|
|
|
NM_000179.3(MSH6):c.1186C>T (p.Leu396Phe)
|
rs2020908
|
|
|
NM_000179.3(MSH6):c.1189T>C (p.Tyr397His)
|
rs587779913
|
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
|
NM_000179.3(MSH6):c.118G>T (p.Ala40Ser)
|
rs754231971
|
|
|
NM_000179.3(MSH6):c.1190A>C (p.Tyr397Ser)
|
rs63750065
|
|
|
NM_000179.3(MSH6):c.1190A>T (p.Tyr397Phe)
|
rs63750065
|
|
|
NM_000179.3(MSH6):c.1192G>C (p.Val398Leu)
|
rs780350978
|
|
|
NM_000179.3(MSH6):c.1196C>A (p.Pro399His)
|
|
|
|
NM_000179.3(MSH6):c.1196C>T (p.Pro399Leu)
|
rs878853701
|
|
|
NM_000179.3(MSH6):c.1199A>T (p.Glu400Val)
|
rs932458640
|
|
|
NM_000179.3(MSH6):c.119C>T (p.Ala40Val)
|
rs757957751
|
|
|
NM_000179.3(MSH6):c.11A>T (p.Gln4Leu)
|
|
|
|
NM_000179.3(MSH6):c.1201G>A (p.Asp401Asn)
|
rs1669308138
|
|
|
NM_000179.3(MSH6):c.1201G>C (p.Asp401His)
|
rs1669308138
|
|
|
NM_000179.3(MSH6):c.1207C>T (p.Leu403Phe)
|
rs876659223
|
|
|
NM_000179.3(MSH6):c.1208T>A (p.Leu403His)
|
|
|
|
NM_000179.3(MSH6):c.1210A>C (p.Asn404His)
|
|
|
|
NM_000179.3(MSH6):c.1211A>T (p.Asn404Ile)
|
rs768740986
|
|
|
NM_000179.3(MSH6):c.1213T>A (p.Ser405Thr)
|
|
|
|
NM_000179.3(MSH6):c.1216T>C (p.Cys406Arg)
|
rs1064794198
|
|
|
NM_000179.3(MSH6):c.1216T>G (p.Cys406Gly)
|
rs1064794198
|
|
|
NM_000179.3(MSH6):c.1217G>A (p.Cys406Tyr)
|
rs1114167789
|
|
|
NM_000179.3(MSH6):c.1217G>T (p.Cys406Phe)
|
rs1114167789
|
|
|
NM_000179.3(MSH6):c.1220C>A (p.Thr407Asn)
|
rs1114167754
|
|
|
NM_000179.3(MSH6):c.1220C>G (p.Thr407Ser)
|
rs1114167754
|
|
|
NM_000179.3(MSH6):c.1220C>T (p.Thr407Ile)
|
rs1114167754
|
|
|
NM_000179.3(MSH6):c.1222C>G (p.Pro408Ala)
|
|
|
|
NM_000179.3(MSH6):c.1222C>T (p.Pro408Ser)
|
rs1553412644
|
|
|
NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg)
|
rs767404845
|
|
|
NM_000179.3(MSH6):c.1225G>A (p.Gly409Arg)
|
rs1669310132
|
|
|
NM_000179.3(MSH6):c.1228A>G (p.Met410Val)
|
|
|
|
NM_000179.3(MSH6):c.122C>A (p.Ser41Tyr)
|
rs876658985
|
|
|
NM_000179.3(MSH6):c.122C>G (p.Ser41Cys)
|
rs876658985
|
|
|
NM_000179.3(MSH6):c.1232G>A (p.Arg411Lys)
|
rs2104329857
|
|
|
NM_000179.3(MSH6):c.1233G>C (p.Arg411Ser)
|
rs554843104
|
|
|
NM_000179.3(MSH6):c.1234A>G (p.Lys412Glu)
|
rs1669310607
|
|
|
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)
|
rs2104330278
|
|
|
NM_000179.3(MSH6):c.1238G>C (p.Trp413Ser)
|
rs786201049
|
|
|
NM_000179.3(MSH6):c.1238G>T (p.Trp413Leu)
|
rs786201049
|
|
|
NM_000179.3(MSH6):c.1239G>C (p.Trp413Cys)
|
rs1114167736
|
|
|
NM_000179.3(MSH6):c.1241G>T (p.Trp414Leu)
|
rs587779914
|
|
|
NM_000179.3(MSH6):c.1242G>T (p.Trp414Cys)
|
rs1007311950
|
|
|
NM_000179.3(MSH6):c.1245G>T (p.Gln415His)
|
rs769418914
|
|
|
NM_000179.3(MSH6):c.1246A>G (p.Ile416Val)
|
rs1669311750
|
|
|
NM_000179.3(MSH6):c.1248T>G (p.Ile416Met)
|
rs1572722305
|
|
|
NM_000179.3(MSH6):c.124C>G (p.Pro42Ala)
|
rs34014629
|
|
|
NM_000179.3(MSH6):c.1250A>C (p.Lys417Thr)
|
rs1553412687
|
|
|
NM_000179.3(MSH6):c.1251G>C (p.Lys417Asn)
|
rs1669312251
|
|
|
NM_000179.3(MSH6):c.1251G>T (p.Lys417Asn)
|
|
|
|
NM_000179.3(MSH6):c.1253C>G (p.Ser418Cys)
|
rs2104331392
|
|
|
NM_000179.3(MSH6):c.1257G>T (p.Gln419His)
|
rs63750026
|
|
|
NM_000179.3(MSH6):c.125C>G (p.Pro42Arg)
|
rs1553408229
|
|
|
NM_000179.3(MSH6):c.125C>T (p.Pro42Leu)
|
rs1553408229
|
|
|
NM_000179.3(MSH6):c.1260C>G (p.Asn420Lys)
|
rs1114167752
|
|
|
NM_000179.3(MSH6):c.1264G>A (p.Asp422Asn)
|
rs1423874192
|
|
|
NM_000179.3(MSH6):c.1264G>C (p.Asp422His)
|
rs1423874192
|
|
|
NM_000179.3(MSH6):c.1264G>T (p.Asp422Tyr)
|
rs1423874192
|
|
|
NM_000179.3(MSH6):c.1264_1296dup (p.Asp422_Phe432dup)
|
rs2104331907
|
|
|
NM_000179.3(MSH6):c.1267C>G (p.Leu423Val)
|
rs587781657
|
|
|
NM_000179.3(MSH6):c.1267C>T (p.Leu423Phe)
|
|
|
|
NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)
|
rs768299607
|
|
|
NM_000179.3(MSH6):c.1271T>C (p.Val424Ala)
|
rs1669314089
|
|
|
NM_000179.3(MSH6):c.1274T>C (p.Ile425Thr)
|
rs2104332672
|
|
|
NM_000179.3(MSH6):c.1279T>C (p.Tyr427His)
|
rs1669315029
|
|
|
NM_000179.3(MSH6):c.127T>C (p.Ser43Pro)
|
rs770678180
|
|
|
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)
|
rs761822293
|
|
|
NM_000179.3(MSH6):c.1283A>C (p.Lys428Thr)
|
|
|
|
NM_000179.3(MSH6):c.1285G>A (p.Val429Met)
|
rs1669315670
|
|
|
NM_000179.3(MSH6):c.1286T>C (p.Val429Ala)
|
rs2104333565
|
|
|
NM_000179.3(MSH6):c.1286T>G (p.Val429Gly)
|
rs2104333565
|
|
|
NM_000179.3(MSH6):c.1289G>A (p.Gly430Glu)
|
rs1114167737
|
|
|
NM_000179.3(MSH6):c.128C>G (p.Ser43Cys)
|
rs781203386
|
|
|
NM_000179.3(MSH6):c.128C>T (p.Ser43Phe)
|
rs781203386
|
|
|
NM_000179.3(MSH6):c.1290G>A (p.Gly430=)
|
rs1558661242
|
|
|
NM_000179.3(MSH6):c.1291A>G (p.Lys431Glu)
|
rs2104333951
|
|
|
NM_000179.3(MSH6):c.1293A>C (p.Lys431Asn)
|
|
|
|
NM_000179.3(MSH6):c.1294T>G (p.Phe432Val)
|
rs2104334088
|
|
|
NM_000179.3(MSH6):c.1295T>A (p.Phe432Tyr)
|
rs750528093
|
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
|
NM_000179.3(MSH6):c.1298A>T (p.Tyr433Phe)
|
rs1669317232
|
|
|
NM_000179.3(MSH6):c.12G>C (p.Gln4His)
|
|
|
|
NM_000179.3(MSH6):c.1303C>G (p.Leu435Val)
|
rs876660441
|
|
|
NM_000179.3(MSH6):c.1306T>C (p.Tyr436His)
|
rs1669318008
|
|
|
NM_000179.3(MSH6):c.1307A>G (p.Tyr436Cys)
|
rs1558661296
|
|
|
NM_000179.3(MSH6):c.1309C>T (p.His437Tyr)
|
rs1669318528
|
|
|
NM_000179.3(MSH6):c.130C>A (p.Pro44Thr)
|
rs1558645097
|
|
|
NM_000179.3(MSH6):c.130C>G (p.Pro44Ala)
|
|
|
|
NM_000179.3(MSH6):c.130C>T (p.Pro44Ser)
|
rs1558645097
|
|
|
NM_000179.3(MSH6):c.1310A>G (p.His437Arg)
|
rs2104335299
|
|
|
NM_000179.3(MSH6):c.1312A>G (p.Met438Val)
|
rs1553412742
|
|
|
NM_000179.3(MSH6):c.1313T>C (p.Met438Thr)
|
rs1558661333
|
|
|
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val)
|
rs1553412749
|
|
|
NM_000179.3(MSH6):c.1321C>T (p.Leu441Phe)
|
rs1553412749
|
|
|
NM_000179.3(MSH6):c.1324A>T (p.Ile442Phe)
|
rs1669320105
|
|
|
NM_000179.3(MSH6):c.1325T>A (p.Ile442Asn)
|
rs587779210
|
|
|
NM_000179.3(MSH6):c.1328G>A (p.Gly443Glu)
|
|
|
|
NM_000179.3(MSH6):c.1331T>G (p.Val444Gly)
|
|
|
|
NM_000179.3(MSH6):c.1334G>C (p.Ser445Thr)
|
|
|
|
NM_000179.3(MSH6):c.1335T>G (p.Ser445Arg)
|
rs1572722604
|
|
|
NM_000179.3(MSH6):c.1336G>A (p.Glu446Lys)
|
rs1669321230
|
|
|
NM_000179.3(MSH6):c.1336G>C (p.Glu446Gln)
|
|
|
|
NM_000179.3(MSH6):c.1337A>T (p.Glu446Val)
|
rs2104337296
|
|
|
NM_000179.3(MSH6):c.1338A>C (p.Glu446Asp)
|
|
|
|
NM_000179.3(MSH6):c.1338A>T (p.Glu446Asp)
|
rs587779211
|
|
|
NM_000179.3(MSH6):c.1339C>G (p.Leu447Val)
|
rs369709529
|
|
|
NM_000179.3(MSH6):c.133G>A (p.Gly45Ser)
|
rs978968846
|
|
|
NM_000179.3(MSH6):c.1340T>C (p.Leu447Pro)
|
|
|
|
NM_000179.3(MSH6):c.1343G>A (p.Gly448Glu)
|
rs1553412772
|
|
|
NM_000179.3(MSH6):c.1345C>A (p.Leu449Met)
|
rs3136333
|
|
|
NM_000179.3(MSH6):c.1346T>A (p.Leu449Gln)
|
|
|
|
NM_000179.3(MSH6):c.1348G>A (p.Val450Ile)
|
|
|
|
NM_000179.3(MSH6):c.1348G>T (p.Val450Leu)
|
rs878993430
|
|
|
NM_000179.3(MSH6):c.1349T>C (p.Val450Ala)
|
rs1064794705
|
|
|
NM_000179.3(MSH6):c.1351T>C (p.Phe451Leu)
|
rs1558661442
|
|
|
NM_000179.3(MSH6):c.1352T>G (p.Phe451Cys)
|
|
|
|
NM_000179.3(MSH6):c.1353C>G (p.Phe451Leu)
|
|
|
|
NM_000179.3(MSH6):c.1354A>C (p.Met452Leu)
|
rs780734507
|
|
|
NM_000179.3(MSH6):c.1354A>G (p.Met452Val)
|
rs780734507
|
|
|
NM_000179.3(MSH6):c.1354A>T (p.Met452Leu)
|
rs780734507
|
|
|
NM_000179.3(MSH6):c.1355T>C (p.Met452Thr)
|
rs1064793364
|
|
|
NM_000179.3(MSH6):c.1357A>C (p.Lys453Gln)
|
rs1669323917
|
|
|
NM_000179.3(MSH6):c.1363A>T (p.Asn455Tyr)
|
rs2104339167
|
|
|
NM_000179.3(MSH6):c.1364A>G (p.Asn455Ser)
|
rs200938360
|
|
|
NM_000179.3(MSH6):c.1365C>G (p.Asn455Lys)
|
rs1064793186
|
|
|
NM_000179.3(MSH6):c.1368G>T (p.Trp456Cys)
|
|
|
|
NM_000179.3(MSH6):c.1369G>C (p.Ala457Pro)
|
rs267608052
|
|
|
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)
|
rs863224616
|
|
|
NM_000179.3(MSH6):c.1370C>T (p.Ala457Val)
|
|
|
|
NM_000179.3(MSH6):c.1372C>G (p.His458Asp)
|
|
|
|
NM_000179.3(MSH6):c.1373A>C (p.His458Pro)
|
|
|
|
NM_000179.3(MSH6):c.1375T>A (p.Ser459Thr)
|
rs2104339863
|
|
|
NM_000179.3(MSH6):c.1376C>A (p.Ser459Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1376C>T (p.Ser459Phe)
|
|
|
|
NM_000179.3(MSH6):c.1378G>A (p.Gly460Ser)
|
rs748847338
|
|
|
NM_000179.3(MSH6):c.1379G>A (p.Gly460Asp)
|
rs1572722767
|
|
|
NM_000179.3(MSH6):c.1382T>A (p.Phe461Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1382T>C (p.Phe461Ser)
|
rs1064793187
|
|
|
NM_000179.3(MSH6):c.1382T>G (p.Phe461Cys)
|
rs1064793187
|
|
|
NM_000179.3(MSH6):c.1384C>G (p.Pro462Ala)
|
rs876658726
|
|
|
NM_000179.3(MSH6):c.1385C>T (p.Pro462Leu)
|
rs1558661506
|
|
|
NM_000179.3(MSH6):c.1387G>A (p.Glu463Lys)
|
|
|
|
NM_000179.3(MSH6):c.1390A>T (p.Ile464Phe)
|
rs201892477
|
|
|
NM_000179.3(MSH6):c.1391T>C (p.Ile464Thr)
|
rs1572722813
|
|
|
NM_000179.3(MSH6):c.1392T>G (p.Ile464Met)
|
rs2104341006
|
|
|
NM_000179.3(MSH6):c.1393G>A (p.Ala465Thr)
|
rs1553412810
|
|
|
NM_000179.3(MSH6):c.1393G>C (p.Ala465Pro)
|
rs1553412810
|
|
|
NM_000179.3(MSH6):c.1394C>T (p.Ala465Val)
|
rs1553412811
|
|
|
NM_000179.3(MSH6):c.139G>A (p.Asp47Asn)
|
rs2103938286
|
|
|
NM_000179.3(MSH6):c.13A>G (p.Ser5Gly)
|
|
|
|
NM_000179.3(MSH6):c.1401C>T (p.Gly467=)
|
rs1558661556
|
|
|
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)
|
rs748165218
|
|
|
NM_000179.3(MSH6):c.1409C>T (p.Ser470Leu)
|
|
|
|
NM_000179.3(MSH6):c.1411G>T (p.Asp471Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1415C>A (p.Ser472Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1415C>G (p.Ser472Cys)
|
rs864622741
|
|
|
NM_000179.3(MSH6):c.1417C>G (p.Leu473Val)
|
rs1060502924
|
|
|
NM_000179.3(MSH6):c.1418T>C (p.Leu473Pro)
|
rs1553412831
|
|
|
NM_000179.3(MSH6):c.141T>A (p.Asp47Glu)
|
|
|
|
NM_000179.3(MSH6):c.141T>G (p.Asp47Glu)
|
rs1668124415
|
|
|
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu)
|
rs1558661621
|
|
|
NM_000179.3(MSH6):c.1420G>T (p.Val474Leu)
|
rs1558661621
|
|
|
NM_000179.3(MSH6):c.1421T>C (p.Val474Ala)
|
rs1669329899
|
|
|
NM_000179.3(MSH6):c.1421T>G (p.Val474Gly)
|
rs1669329899
|
|
|
NM_000179.3(MSH6):c.1426A>C (p.Lys476Gln)
|
rs1229494027
|
|
|
NM_000179.3(MSH6):c.1426A>G (p.Lys476Glu)
|
rs1229494027
|
|
|
NM_000179.3(MSH6):c.1427A>G (p.Lys476Arg)
|
rs1553412841
|
|
|
NM_000179.3(MSH6):c.1429G>A (p.Gly477Ser)
|
rs1251859821
|
|
|
NM_000179.3(MSH6):c.142G>A (p.Ala48Thr)
|
rs1572698169
|
|
|
NM_000179.3(MSH6):c.1430G>C (p.Gly477Ala)
|
rs1669330815
|
|
|
NM_000179.3(MSH6):c.1430G>T (p.Gly477Val)
|
rs1669330815
|
|
|
NM_000179.3(MSH6):c.1431C>G (p.Gly477=)
|
rs2104343567
|
|
|
NM_000179.3(MSH6):c.1435A>C (p.Lys479Gln)
|
rs2104343819
|
|
|
NM_000179.3(MSH6):c.1435A>G (p.Lys479Glu)
|
|
|
|
NM_000179.3(MSH6):c.1436A>T (p.Lys479Ile)
|
|
|
|
NM_000179.3(MSH6):c.1439_1441dup (p.Val480dup)
|
rs1669331455
|
|
|
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)
|
rs63750909
|
|
|
NM_000179.3(MSH6):c.1445G>T (p.Arg482Leu)
|
|
|
|
NM_000179.3(MSH6):c.1447G>A (p.Val483Met)
|
rs786204084
|
|
|
NM_000179.3(MSH6):c.1447G>C (p.Val483Leu)
|
rs786204084
|
|
|
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)
|
rs587782706
|
|
|
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln)
|
rs587782706
|
|
|
NM_000179.3(MSH6):c.1453C>G (p.Gln485Glu)
|
rs1114167803
|
|
|
NM_000179.3(MSH6):c.1454A>C (p.Gln485Pro)
|
rs1553412866
|
|
|
NM_000179.3(MSH6):c.1455G>T (p.Gln485His)
|
rs1669333625
|
|
|
NM_000179.3(MSH6):c.1457C>G (p.Thr486Ser)
|
rs577713548
|
|
|
NM_000179.3(MSH6):c.1459G>A (p.Glu487Lys)
|
rs1469561474
|
|
|
NM_000179.3(MSH6):c.145G>C (p.Ala49Pro)
|
rs745642001
|
|
|
NM_000179.3(MSH6):c.145_146delinsAA (p.Ala49Asn)
|
|
|
|
NM_000179.3(MSH6):c.1460A>T (p.Glu487Val)
|
rs1558661766
|
|
|
NM_000179.3(MSH6):c.1461G>C (p.Glu487Asp)
|
rs1174736855
|
|
|
NM_000179.3(MSH6):c.1462A>G (p.Thr488Ala)
|
|
|
|
NM_000179.3(MSH6):c.1463C>A (p.Thr488Asn)
|
rs1453645523
|
|
|
NM_000179.3(MSH6):c.1463C>T (p.Thr488Ile)
|
rs1453645523
|
|
|
NM_000179.3(MSH6):c.1465C>G (p.Pro489Ala)
|
rs1553412879
|
|
|
NM_000179.3(MSH6):c.1466C>T (p.Pro489Leu)
|
rs1669334912
|
|
|
NM_000179.3(MSH6):c.146C>T (p.Ala49Val)
|
rs775498550
|
|
|
NM_000179.3(MSH6):c.1471A>G (p.Met491Val)
|
rs1669335240
|
|
|
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)
|
rs587782576
|
|
|
NM_000179.3(MSH6):c.1472T>C (p.Met491Thr)
|
|
|
|
NM_000179.3(MSH6):c.1473G>C (p.Met491Ile)
|
rs1572723119
|
|
|
NM_000179.3(MSH6):c.1473G>T (p.Met491Ile)
|
|
|
|
NM_000179.3(MSH6):c.1474A>T (p.Met492Leu)
|
rs61754783
|
|
|
NM_000179.3(MSH6):c.1475T>C (p.Met492Thr)
|
rs1558661808
|
|
|
NM_000179.3(MSH6):c.1476G>T (p.Met492Ile)
|
rs1572723130
|
|
|
NM_000179.3(MSH6):c.1478A>C (p.Glu493Ala)
|
rs1669336176
|
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
|
NM_000179.3(MSH6):c.1481C>G (p.Ala494Gly)
|
|
|
|
NM_000179.3(MSH6):c.1481C>T (p.Ala494Val)
|
rs1264762735
|
|
|
NM_000179.3(MSH6):c.1484G>A (p.Arg495Gln)
|
rs1358771617
|
|
|
NM_000179.3(MSH6):c.1486T>C (p.Cys496Arg)
|
rs1558661860
|
|
|
NM_000179.3(MSH6):c.1486T>G (p.Cys496Gly)
|
|
|
|
NM_000179.3(MSH6):c.1489A>G (p.Arg497Gly)
|
|
|
|
NM_000179.3(MSH6):c.1492A>G (p.Lys498Glu)
|
rs1669338018
|
|
|
NM_000179.3(MSH6):c.1494G>C (p.Lys498Asn)
|
rs1572723194
|
|
|
NM_000179.3(MSH6):c.1495A>C (p.Met499Leu)
|
rs1114167745
|
|
|
NM_000179.3(MSH6):c.1495A>G (p.Met499Val)
|
rs1114167745
|
|
|
NM_000179.3(MSH6):c.1495A>T (p.Met499Leu)
|
rs1114167745
|
|
|
NM_000179.3(MSH6):c.1496T>C (p.Met499Thr)
|
rs1572723206
|
|
|
NM_000179.3(MSH6):c.1497G>T (p.Met499Ile)
|
|
|
|
NM_000179.3(MSH6):c.1499C>A (p.Ala500Glu)
|
rs1114167795
|
|
|
NM_000179.3(MSH6):c.1499C>T (p.Ala500Val)
|
rs1114167795
|
|
|
NM_000179.3(MSH6):c.149G>C (p.Trp50Ser)
|
rs2103938825
|
|
|
NM_000179.3(MSH6):c.14G>A (p.Ser5Asn)
|
rs532585602
|
|
|
NM_000179.3(MSH6):c.1501C>G (p.His501Asp)
|
rs779411998
|
|
|
NM_000179.3(MSH6):c.1502A>G (p.His501Arg)
|
rs1572723229
|
|
|
NM_000179.3(MSH6):c.1503T>G (p.His501Gln)
|
rs1572723237
|
|
|
NM_000179.3(MSH6):c.1504A>G (p.Ile502Val)
|
|
|
|
NM_000179.3(MSH6):c.1507T>C (p.Ser503Pro)
|
rs1669339708
|
|
|
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe)
|
rs63750897
|
|
|
NM_000179.3(MSH6):c.150G>C (p.Trp50Cys)
|
rs876659674
|
|
|
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys)
|
rs876659674
|
|
|
NM_000179.3(MSH6):c.1510A>C (p.Lys504Gln)
|
rs1553412902
|
|
|
NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)
|
|
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
|
NM_000179.3(MSH6):c.1514A>G (p.Tyr505Cys)
|
rs1669340655
|
|
|
NM_000179.3(MSH6):c.1518T>G (p.Asp506Glu)
|
rs775497704
|
|
|
NM_000179.3(MSH6):c.1519A>G (p.Arg507Gly)
|
rs1553412915
|
|
|
NM_000179.3(MSH6):c.151A>C (p.Ser51Arg)
|
|
|
|
NM_000179.3(MSH6):c.151A>G (p.Ser51Gly)
|
rs1553408276
|
|
|
NM_000179.3(MSH6):c.1521A>C (p.Arg507Ser)
|
rs1669341326
|
|
|
NM_000179.3(MSH6):c.1522G>A (p.Val508Met)
|
rs747971039
|
|
|
NM_000179.3(MSH6):c.1525G>A (p.Val509Met)
|
|
|
|
NM_000179.3(MSH6):c.1526T>G (p.Val509Gly)
|
rs63751005
|
|
|
NM_000179.3(MSH6):c.1528A>G (p.Arg510Gly)
|
rs786203486
|
|
|
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)
|
rs993163672
|
|
|
NM_000179.3(MSH6):c.1529G>C (p.Arg510Thr)
|
rs864622572
|
|
|
NM_000179.3(MSH6):c.152G>T (p.Ser51Ile)
|
rs1284504549
|
|
|
NM_000179.3(MSH6):c.1532G>A (p.Arg511Lys)
|
|
|
|
NM_000179.3(MSH6):c.1534G>A (p.Glu512Lys)
|
rs1572723342
|
|
|
NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)
|
rs1060502908
|
|
|
NM_000179.3(MSH6):c.1539C>G (p.Ile513Met)
|
|
|
|
NM_000179.3(MSH6):c.1540_1548del (p.Cys514_Ile516del)
|
rs2104350214
|
|
|
NM_000179.3(MSH6):c.1541G>A (p.Cys514Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1541G>C (p.Cys514Ser)
|
|
|
|
NM_000179.3(MSH6):c.1543A>G (p.Arg515Gly)
|
|
|
|
NM_000179.3(MSH6):c.1544G>A (p.Arg515Lys)
|
rs1669343421
|
|
|
NM_000179.3(MSH6):c.1546A>G (p.Ile516Val)
|
rs1669343512
|
|
|
NM_000179.3(MSH6):c.1549A>G (p.Ile517Val)
|
rs2104350987
|
|
|
NM_000179.3(MSH6):c.154G>A (p.Glu52Lys)
|
rs1114167719
|
|
|
NM_000179.3(MSH6):c.154G>C (p.Glu52Gln)
|
rs1114167719
|
|
|
NM_000179.3(MSH6):c.1550T>C (p.Ile517Thr)
|
rs1669343851
|
|
|
NM_000179.3(MSH6):c.1553C>A (p.Thr518Asn)
|
rs1553412945
|
|
|
NM_000179.3(MSH6):c.1556A>C (p.Lys519Thr)
|
rs1285168531
|
|
|
NM_000179.3(MSH6):c.1557G>C (p.Lys519Asn)
|
rs876660445
|
|
|
NM_000179.3(MSH6):c.1558G>A (p.Gly520Ser)
|
rs1558662076
|
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
|
NM_000179.3(MSH6):c.1559G>C (p.Gly520Ala)
|
rs1669344619
|
|
|
NM_000179.3(MSH6):c.155A>T (p.Glu52Val)
|
rs878853707
|
|
|
NM_000179.3(MSH6):c.1561A>C (p.Thr521Pro)
|
rs587779916
|
|
|
NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser)
|
rs587779916
|
|
|
NM_000179.3(MSH6):c.1562C>T (p.Thr521Ile)
|
rs149159527
|
|
|
NM_000179.3(MSH6):c.1564C>A (p.Gln522Lys)
|
rs878853708
|
|
|
NM_000179.3(MSH6):c.1564C>G (p.Gln522Glu)
|
rs878853708
|
|
|
NM_000179.3(MSH6):c.1567A>G (p.Thr523Ala)
|
|
|
|
NM_000179.3(MSH6):c.1568C>T (p.Thr523Ile)
|
rs1553412959
|
|
|
NM_000179.3(MSH6):c.156G>C (p.Glu52Asp)
|
|
|
|
NM_000179.3(MSH6):c.1570T>A (p.Tyr524Asn)
|
|
|
|
NM_000179.3(MSH6):c.1571A>C (p.Tyr524Ser)
|
rs1669346323
|
|
|
NM_000179.3(MSH6):c.1573A>G (p.Ser525Gly)
|
rs1572723488
|
|
|
NM_000179.3(MSH6):c.1576G>A (p.Val526Met)
|
rs1060502899
|
|
|
NM_000179.3(MSH6):c.157G>C (p.Ala53Pro)
|
rs2103939250
|
|
|
NM_000179.3(MSH6):c.1580T>G (p.Leu527Arg)
|
rs1669347620
|
|
|
NM_000179.3(MSH6):c.1585G>T (p.Gly529Cys)
|
|
|
|
NM_000179.3(MSH6):c.1586G>A (p.Gly529Asp)
|
rs786201964
|
|
|
NM_000179.3(MSH6):c.1586G>C (p.Gly529Ala)
|
rs786201964
|
|
|
NM_000179.3(MSH6):c.1586G>T (p.Gly529Val)
|
rs786201964
|
|
|
NM_000179.3(MSH6):c.158C>A (p.Ala53Asp)
|
rs1553408288
|
|
|
NM_000179.3(MSH6):c.1591C>A (p.Pro531Thr)
|
rs201721694
|
|
|
NM_000179.3(MSH6):c.1591C>G (p.Pro531Ala)
|
rs201721694
|
|
|
NM_000179.3(MSH6):c.1591C>T (p.Pro531Ser)
|
|
|
|
NM_000179.3(MSH6):c.1594T>C (p.Ser532Pro)
|
rs1558662224
|
|
|
NM_000179.3(MSH6):c.1595C>G (p.Ser532Cys)
|
rs1572723570
|
|
|
NM_000179.3(MSH6):c.1597G>A (p.Glu533Lys)
|
rs1553412979
|
|
|
NM_000179.3(MSH6):c.1598A>G (p.Glu533Gly)
|
rs1553412981
|
|
|
NM_000179.3(MSH6):c.1598A>T (p.Glu533Val)
|
rs1553412981
|
|
|
NM_000179.3(MSH6):c.159TGGGCC[3] (p.54GP[3])
|
rs767894453
|
|
|
NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp)
|
rs1669350157
|
|
|
NM_000179.3(MSH6):c.1600A>T (p.Asn534Tyr)
|
|
|
|
NM_000179.3(MSH6):c.1601A>T (p.Asn534Ile)
|
rs1572723598
|
|
|
NM_000179.3(MSH6):c.1602C>A (p.Asn534Lys)
|
rs763712971
|
|
|
NM_000179.3(MSH6):c.1602C>G (p.Asn534Lys)
|
rs763712971
|
|
|
NM_000179.3(MSH6):c.1603T>A (p.Tyr535Asn)
|
rs2104354716
|
|
|
NM_000179.3(MSH6):c.1603T>G (p.Tyr535Asp)
|
rs2104354716
|
|
|
NM_000179.3(MSH6):c.1604A>G (p.Tyr535Cys)
|
rs376476188
|
|
|
NM_000179.3(MSH6):c.1606A>G (p.Ser536Gly)
|
rs765983691
|
|
|
NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)
|
rs587782352
|
|
|
NM_000179.3(MSH6):c.1607G>T (p.Ser536Ile)
|
|
|
|
NM_000179.3(MSH6):c.1609A>C (p.Lys537Gln)
|
rs753276270
|
|
|
NM_000179.3(MSH6):c.1612T>C (p.Tyr538His)
|
rs1365012099
|
|
|
NM_000179.3(MSH6):c.1613A>C (p.Tyr538Ser)
|
rs728619
|
|
|
NM_000179.3(MSH6):c.1615C>A (p.Leu539Ile)
|
|
|
|
NM_000179.3(MSH6):c.1615C>T (p.Leu539Phe)
|
rs1553412999
|
|
|
NM_000179.3(MSH6):c.1616T>A (p.Leu539His)
|
rs1422865375
|
|
|
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile)
|
rs201996928
|
|
|
NM_000179.3(MSH6):c.1618C>G (p.Leu540Val)
|
rs201996928
|
|
|
NM_000179.3(MSH6):c.1618C>T (p.Leu540Phe)
|
rs201996928
|
|
|
NM_000179.3(MSH6):c.161G>A (p.Gly54Glu)
|
|
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
|
NM_000179.3(MSH6):c.1628A>C (p.Lys543Thr)
|
rs1553413015
|
|
|
NM_000179.3(MSH6):c.1628A>G (p.Lys543Arg)
|
rs1553413015
|
|
|
NM_000179.3(MSH6):c.1632A>C (p.Glu544Asp)
|
rs1296237769
|
|
|
NM_000179.3(MSH6):c.1634A>G (p.Lys545Arg)
|
rs1558662390
|
|
|
NM_000179.3(MSH6):c.1636G>C (p.Glu546Gln)
|
rs63751172
|
|
|
NM_000179.3(MSH6):c.1637A>G (p.Glu546Gly)
|
rs373554374
|
|
|
NM_000179.3(MSH6):c.1638G>T (p.Glu546Asp)
|
rs1669356333
|
|
|
NM_000179.3(MSH6):c.163C>T (p.Pro55Ser)
|
rs2103939567
|
|
|
NM_000179.3(MSH6):c.1640A>G (p.Glu547Gly)
|
rs1553413026
|
|
|
NM_000179.3(MSH6):c.1642G>A (p.Asp548Asn)
|
|
|
|
NM_000179.3(MSH6):c.1642G>C (p.Asp548His)
|
rs2104357887
|
|
|
NM_000179.3(MSH6):c.1645T>C (p.Ser549Pro)
|
|
|
|
NM_000179.3(MSH6):c.1646C>T (p.Ser549Phe)
|
rs200447622
|
|
|
NM_000179.3(MSH6):c.1649C>T (p.Ser550Phe)
|
rs878853710
|
|
|
NM_000179.3(MSH6):c.1649_1651del (p.Ser550_Gly551delinsCys)
|
rs1558662438
|
|
|
NM_000179.3(MSH6):c.164C>A (p.Pro55His)
|
rs1342218617
|
|
|
NM_000179.3(MSH6):c.164C>G (p.Pro55Arg)
|
rs1342218617
|
|
|
NM_000179.3(MSH6):c.164C>T (p.Pro55Leu)
|
rs1342218617
|
|
|
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser)
|
rs1558662449
|
|
|
NM_000179.3(MSH6):c.1655A>T (p.His552Leu)
|
rs1064793423
|
|
|
NM_000179.3(MSH6):c.1657A>C (p.Thr553Pro)
|
rs1294509946
|
|
|
NM_000179.3(MSH6):c.1657A>G (p.Thr553Ala)
|
rs1294509946
|
|
|
NM_000179.3(MSH6):c.1657A>T (p.Thr553Ser)
|
rs1294509946
|
|
|
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser)
|
rs1553413038
|
|
|
NM_000179.3(MSH6):c.1658C>T (p.Thr553Ile)
|
rs1553413038
|
|
|
NM_000179.3(MSH6):c.1666T>C (p.Tyr556His)
|
rs1060502895
|
|
|
NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)
|
rs63751312
|
|
|
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser)
|
rs1553413048
|
|
|
NM_000179.3(MSH6):c.166G>T (p.Gly56Trp)
|
rs1254951576
|
|
|
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)
|
rs1553413050
|
|
|
NM_000179.3(MSH6):c.1675T>A (p.Cys559Ser)
|
|
|
|
NM_000179.3(MSH6):c.1675T>C (p.Cys559Arg)
|
rs1558662565
|
|
|
NM_000179.3(MSH6):c.1677C>G (p.Cys559Trp)
|
rs63749893
|
|
|
NM_000179.3(MSH6):c.1678T>G (p.Phe560Val)
|
rs863224617
|
|
|
NM_000179.3(MSH6):c.1679T>A (p.Phe560Tyr)
|
|
|
|
NM_000179.3(MSH6):c.167G>A (p.Gly56Glu)
|
rs1572698275
|
|
|
NM_000179.3(MSH6):c.167G>T (p.Gly56Val)
|
rs1572698275
|
|
|
NM_000179.3(MSH6):c.1681G>A (p.Val561Ile)
|
|
|
|
NM_000179.3(MSH6):c.1681G>C (p.Val561Leu)
|
rs1553413057
|
|
|
NM_000179.3(MSH6):c.1685A>G (p.Asp562Gly)
|
|
|
|
NM_000179.3(MSH6):c.1688C>A (p.Thr563Asn)
|
rs1386014501
|
|
|
NM_000179.3(MSH6):c.1688C>G (p.Thr563Ser)
|
rs1386014501
|
|
|
NM_000179.3(MSH6):c.1690T>A (p.Ser564Thr)
|
rs876661163
|
|
|
NM_000179.3(MSH6):c.1690T>G (p.Ser564Ala)
|
|
|
|
NM_000179.3(MSH6):c.1693C>A (p.Leu565Met)
|
|
|
|
NM_000179.3(MSH6):c.1697G>A (p.Gly566Glu)
|
rs758990693
|
|
|
NM_000179.3(MSH6):c.1699A>G (p.Lys567Glu)
|
rs1669363053
|
|
|
NM_000179.3(MSH6):c.169C>A (p.Pro57Thr)
|
|
|
|
NM_000179.3(MSH6):c.169C>T (p.Pro57Ser)
|
rs773367009
|
|
|
NM_000179.3(MSH6):c.1700A>G (p.Lys567Arg)
|
rs1558662651
|
|
|
NM_000179.3(MSH6):c.1702T>C (p.Phe568Leu)
|
|
|
|
NM_000179.3(MSH6):c.1702T>G (p.Phe568Val)
|
rs758118126
|
|
|
NM_000179.3(MSH6):c.1705T>C (p.Phe569Leu)
|
rs1553413084
|
|
|
NM_000179.3(MSH6):c.1705T>G (p.Phe569Val)
|
rs1553413084
|
|
|
NM_000179.3(MSH6):c.1706T>C (p.Phe569Ser)
|
rs1558662672
|
|
|
NM_000179.3(MSH6):c.1709T>C (p.Ile570Thr)
|
rs2104362433
|
|
|
NM_000179.3(MSH6):c.170C>T (p.Pro57Leu)
|
rs1064793657
|
|
|
NM_000179.3(MSH6):c.1710A>G (p.Ile570Met)
|
rs1572724112
|
|
|
NM_000179.3(MSH6):c.1711G>C (p.Gly571Arg)
|
|
|
|
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp)
|
rs863224618
|
|
|
NM_000179.3(MSH6):c.1714C>G (p.Gln572Glu)
|
rs1064795256
|
|
|
NM_000179.3(MSH6):c.1719T>A (p.Phe573Leu)
|
rs2104363146
|
|
|
NM_000179.3(MSH6):c.1721C>T (p.Ser574Leu)
|
|
|
|
NM_000179.3(MSH6):c.1721_1722delinsTC (p.Ser574Phe)
|
|
|
|
NM_000179.3(MSH6):c.1723G>C (p.Asp575His)
|
rs863224619
|
|
|
NM_000179.3(MSH6):c.1723G>T (p.Asp575Tyr)
|
rs863224619
|
|
|
NM_000179.3(MSH6):c.1724A>G (p.Asp575Gly)
|
rs1669366197
|
|
|
NM_000179.3(MSH6):c.1724A>T (p.Asp575Val)
|
|
|
|
NM_000179.3(MSH6):c.1726G>T (p.Asp576Tyr)
|
rs1669366443
|
|
|
NM_000179.3(MSH6):c.1726_1734del (p.Asp576_His578del)
|
|
|
|
NM_000179.3(MSH6):c.1727A>G (p.Asp576Gly)
|
|
|
|
NM_000179.3(MSH6):c.1729C>A (p.Arg577Ser)
|
rs542838372
|
|
|
NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)
|
rs542838372
|
|
|
NM_000179.3(MSH6):c.172A>G (p.Arg58Gly)
|
rs1553408313
|
|
|
NM_000179.3(MSH6):c.172_177dup (p.Arg58_Pro59dup)
|
rs876661161
|
|
|
NM_000179.3(MSH6):c.1730G>T (p.Arg577Leu)
|
|
|
|
NM_000179.3(MSH6):c.1732C>A (p.His578Asn)
|
|
|
|
NM_000179.3(MSH6):c.1732C>G (p.His578Asp)
|
rs768854566
|
|
|
NM_000179.3(MSH6):c.1733A>G (p.His578Arg)
|
rs1553413111
|
|
|
NM_000179.3(MSH6):c.1733A>T (p.His578Leu)
|
rs1553413111
|
|
|
NM_000179.3(MSH6):c.1735T>G (p.Cys579Gly)
|
rs1185721664
|
|
|
NM_000179.3(MSH6):c.1736G>T (p.Cys579Phe)
|
|
|
|
NM_000179.3(MSH6):c.173G>A (p.Arg58Lys)
|
rs1064795187
|
|
|
NM_000179.3(MSH6):c.1743A>G (p.Arg581=)
|
rs1669368141
|
|
|
NM_000179.3(MSH6):c.1744T>C (p.Phe582Leu)
|
|
|
|
NM_000179.3(MSH6):c.1747A>G (p.Arg583Gly)
|
rs1558662808
|
|
|
NM_000179.3(MSH6):c.1750A>C (p.Thr584Pro)
|
rs1553413123
|
|
|
NM_000179.3(MSH6):c.1751C>G (p.Thr584Ser)
|
rs1572724260
|
|
|
NM_000179.3(MSH6):c.1751C>T (p.Thr584Ile)
|
rs1572724260
|
|
|
NM_000179.3(MSH6):c.1752T>C (p.Thr584=)
|
rs1114167777
|
|
|
NM_000179.3(MSH6):c.1753C>G (p.Leu585Val)
|
rs1558662820
|
|
|
NM_000179.3(MSH6):c.1754T>A (p.Leu585Gln)
|
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
|
NM_000179.3(MSH6):c.1756G>A (p.Val586Met)
|
|
|
|
NM_000179.3(MSH6):c.1756G>C (p.Val586Leu)
|
rs1044963129
|
|
|
NM_000179.3(MSH6):c.1757T>G (p.Val586Gly)
|
|
|
|
NM_000179.3(MSH6):c.1759G>A (p.Ala587Thr)
|
rs868575342
|
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
|
NM_000179.3(MSH6):c.175C>G (p.Pro59Ala)
|
|
|
|
NM_000179.3(MSH6):c.1760C>T (p.Ala587Val)
|
rs1060502907
|
|
|
NM_000179.3(MSH6):c.1762C>T (p.His588Tyr)
|
rs1669370186
|
|
|
NM_000179.3(MSH6):c.1763A>G (p.His588Arg)
|
rs786202725
|
|
|
NM_000179.3(MSH6):c.1764C>G (p.His588Gln)
|
|
|
|
NM_000179.3(MSH6):c.1765T>A (p.Tyr589Asn)
|
|
|
|
NM_000179.3(MSH6):c.1765T>C (p.Tyr589His)
|
|
|
|
NM_000179.3(MSH6):c.1768C>A (p.Pro590Thr)
|
rs1553413153
|
|
|
NM_000179.3(MSH6):c.1768C>G (p.Pro590Ala)
|
|
|
|
NM_000179.3(MSH6):c.1768C>T (p.Pro590Ser)
|
rs1553413153
|
|
|
NM_000179.3(MSH6):c.1769C>T (p.Pro590Leu)
|
rs587782635
|
|
|
NM_000179.3(MSH6):c.176C>A (p.Pro59His)
|
|
|
|
NM_000179.3(MSH6):c.176C>G (p.Pro59Arg)
|
rs1668129135
|
|
|
NM_000179.3(MSH6):c.176C>T (p.Pro59Leu)
|
|
|
|
NM_000179.3(MSH6):c.1771C>G (p.Pro591Ala)
|
rs267608045
|
|
|
NM_000179.3(MSH6):c.1772C>A (p.Pro591Gln)
|
rs1558662903
|
|
|
NM_000179.3(MSH6):c.1772C>T (p.Pro591Leu)
|
rs1558662903
|
|
|
NM_000179.3(MSH6):c.1774G>A (p.Val592Ile)
|
rs1558662912
|
|
|
NM_000179.3(MSH6):c.1777C>A (p.Gln593Lys)
|
|
|
|
NM_000179.3(MSH6):c.1778A>T (p.Gln593Leu)
|
rs2104367077
|
|
|
NM_000179.3(MSH6):c.1780G>A (p.Val594Ile)
|
rs757029447
|
|
|
NM_000179.3(MSH6):c.1780G>C (p.Val594Leu)
|
rs757029447
|
|
|
NM_000179.3(MSH6):c.1781T>A (p.Val594Asp)
|
|
|
|
NM_000179.3(MSH6):c.1781T>G (p.Val594Gly)
|
rs1669372526
|
|
|
NM_000179.3(MSH6):c.1783T>A (p.Leu595Ile)
|
|
|
|
NM_000179.3(MSH6):c.1784T>C (p.Leu595Ser)
|
rs1553413170
|
|
|
NM_000179.3(MSH6):c.1785_1787del (p.Leu595del)
|
|
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
|
NM_000179.3(MSH6):c.1786T>C (p.Phe596Leu)
|
|
|
|
NM_000179.3(MSH6):c.1787T>A (p.Phe596Tyr)
|
rs1064793774
|
|
|
NM_000179.3(MSH6):c.1787T>C (p.Phe596Ser)
|
rs1064793774
|
|
|
NM_000179.3(MSH6):c.1787T>G (p.Phe596Cys)
|
rs1064793774
|
|
|
NM_000179.3(MSH6):c.1790A>G (p.Glu597Gly)
|
rs1553413180
|
|
|
NM_000179.3(MSH6):c.1791A>C (p.Glu597Asp)
|
rs1114167769
|
|
|
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)
|
rs587779919
|
|
|
NM_000179.3(MSH6):c.1796G>A (p.Gly599Glu)
|
|
|
|
NM_000179.3(MSH6):c.1796G>C (p.Gly599Ala)
|
rs1558663014
|
|
|
NM_000179.3(MSH6):c.1797A>T (p.Gly599=)
|
rs1279647909
|
|
|
NM_000179.3(MSH6):c.1798A>T (p.Asn600Tyr)
|
|
|
|
NM_000179.3(MSH6):c.179T>C (p.Leu60Ser)
|
|
|
|
NM_000179.3(MSH6):c.17C>T (p.Thr6Ile)
|
rs1572697743
|
|
|
NM_000179.3(MSH6):c.1801C>A (p.Leu601Ile)
|
|
|
|
NM_000179.3(MSH6):c.1801C>G (p.Leu601Val)
|
rs1553413197
|
|
|
NM_000179.3(MSH6):c.1805C>T (p.Ser602Leu)
|
|
|
|
NM_000179.3(MSH6):c.1807A>G (p.Lys603Glu)
|
|
|
|
NM_000179.3(MSH6):c.1809G>C (p.Lys603Asn)
|
|
|
|
NM_000179.3(MSH6):c.1810G>A (p.Glu604Lys)
|
rs1669375976
|
|
|
NM_000179.3(MSH6):c.1811A>C (p.Glu604Ala)
|
|
|
|
NM_000179.3(MSH6):c.1813A>C (p.Thr605Pro)
|
rs780167298
|
|
|
NM_000179.3(MSH6):c.1814C>A (p.Thr605Asn)
|
rs587781616
|
|
|
NM_000179.3(MSH6):c.1816A>G (p.Lys606Glu)
|
rs1478102899
|
|
|
NM_000179.3(MSH6):c.1817A>C (p.Lys606Thr)
|
|
|
|
NM_000179.3(MSH6):c.1817A>G (p.Lys606Arg)
|
rs1572724507
|
|
|
NM_000179.3(MSH6):c.1819A>G (p.Thr607Ala)
|
rs1204144048
|
|
|
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg)
|
rs786201676
|
|
|
NM_000179.3(MSH6):c.1822A>T (p.Ile608Phe)
|
rs201613780
|
|
|
NM_000179.3(MSH6):c.1826T>C (p.Leu609Pro)
|
rs1669378654
|
|
|
NM_000179.3(MSH6):c.1829A>G (p.Lys610Arg)
|
rs1558663145
|
|
|
NM_000179.3(MSH6):c.1829A>T (p.Lys610Met)
|
rs1558663145
|
|
|
NM_000179.3(MSH6):c.182C>A (p.Ala61Glu)
|
|
|
|
NM_000179.3(MSH6):c.1831A>C (p.Ser611Arg)
|
rs1669379939
|
|
|
NM_000179.3(MSH6):c.1833T>G (p.Ser611Arg)
|
rs1553413220
|
|
|
NM_000179.3(MSH6):c.1834T>A (p.Ser612Thr)
|
rs2104370431
|
|
|
NM_000179.3(MSH6):c.1835C>T (p.Ser612Leu)
|
rs63750564
|
|
|
NM_000179.3(MSH6):c.1836_1841dup (p.Ser614_Cys615insLeuSer)
|
|
|
|
NM_000179.3(MSH6):c.1839G>T (p.Leu613Phe)
|
|
|
|
NM_000179.3(MSH6):c.183_184delinsAA (p.Arg62Ser)
|
rs2103940834
|
|
|
NM_000179.3(MSH6):c.1841C>G (p.Ser614Cys)
|
rs1669381714
|
|
|
NM_000179.3(MSH6):c.1841C>T (p.Ser614Phe)
|
rs1669381714
|
|
|
NM_000179.3(MSH6):c.1843T>C (p.Cys615Arg)
|
rs1572724620
|
|
|
NM_000179.3(MSH6):c.1844G>A (p.Cys615Tyr)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1845T>G (p.Cys615Trp)
|
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
|
NM_000179.3(MSH6):c.1847C>T (p.Ser616Phe)
|
rs772363120
|
|
|
NM_000179.3(MSH6):c.1849C>T (p.Leu617Phe)
|
rs773619924
|
|
|
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)
|
rs876659508
|
|
|
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)
|
rs876659508
|
|
|
NM_000179.3(MSH6):c.1850T>G (p.Leu617Arg)
|
rs1553413228
|
|
|
NM_000179.3(MSH6):c.1853A>C (p.Gln618Pro)
|
rs747576518
|
|
|
NM_000179.3(MSH6):c.1855G>A (p.Glu619Lys)
|
rs1669384406
|
|
|
NM_000179.3(MSH6):c.1858G>T (p.Gly620Cys)
|
rs876661043
|
|
|
NM_000179.3(MSH6):c.1859G>A (p.Gly620Asp)
|
|
|
|
NM_000179.3(MSH6):c.1859G>C (p.Gly620Ala)
|
rs1669385083
|
|
|
NM_000179.3(MSH6):c.185G>A (p.Arg62His)
|
rs867979237
|
|
|
NM_000179.3(MSH6):c.185G>C (p.Arg62Pro)
|
rs867979237
|
|
|
NM_000179.3(MSH6):c.185G>T (p.Arg62Leu)
|
rs867979237
|
|
|
NM_000179.3(MSH6):c.1861C>G (p.Leu621Val)
|
rs1669385359
|
|
|
NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)
|
|
|
|
NM_000179.3(MSH6):c.1866A>G (p.Ile622Met)
|
rs1042817
|
|
|
NM_000179.3(MSH6):c.1867C>T (p.Pro623Ser)
|
|
|
|
NM_000179.3(MSH6):c.1868C>A (p.Pro623His)
|
rs63750462
|
|
|
NM_000179.3(MSH6):c.1868C>T (p.Pro623Leu)
|
rs63750462
|
|
|
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
|
|
|
|
NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)
|
rs763606858
|
|
|
NM_000179.3(MSH6):c.1874C>G (p.Ser625Cys)
|
rs773927995
|
|
|
NM_000179.3(MSH6):c.1876C>G (p.Gln626Glu)
|
rs1553413253
|
|
|
NM_000179.3(MSH6):c.1877A>G (p.Gln626Arg)
|
rs1553413257
|
|
|
NM_000179.3(MSH6):c.1878G>C (p.Gln626His)
|
rs767285340
|
|
|
NM_000179.3(MSH6):c.187T>A (p.Ser63Thr)
|
rs763702846
|
|
|
NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)
|
rs763702846
|
|
|
NM_000179.3(MSH6):c.1882T>C (p.Trp628Arg)
|
rs1669388132
|
|
|
NM_000179.3(MSH6):c.1885G>C (p.Asp629His)
|
rs1064795030
|
|
|
NM_000179.3(MSH6):c.1885G>T (p.Asp629Tyr)
|
rs1064795030
|
|
|
NM_000179.3(MSH6):c.1886A>G (p.Asp629Gly)
|
rs2104373880
|
|
|
NM_000179.3(MSH6):c.1887T>G (p.Asp629Glu)
|
rs876660921
|
|
|
NM_000179.3(MSH6):c.1888G>C (p.Ala630Pro)
|
rs1572724808
|
|
|
NM_000179.3(MSH6):c.1888G>T (p.Ala630Ser)
|
|
|
|
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)
|
rs587779920
|
|
|
NM_000179.3(MSH6):c.188C>T (p.Ser63Phe)
|
rs587779920
|
|
|
NM_000179.3(MSH6):c.1892C>T (p.Ser631Phe)
|
|
|
|
NM_000179.3(MSH6):c.1895A>C (p.Lys632Thr)
|
rs750800736
|
|
|
NM_000179.3(MSH6):c.1895A>G (p.Lys632Arg)
|
rs750800736
|
|
|
NM_000179.3(MSH6):c.1896A>C (p.Lys632Asn)
|
rs1669389662
|
|
|
NM_000179.3(MSH6):c.1898C>G (p.Thr633Ser)
|
rs1553413271
|
|
|
NM_000179.3(MSH6):c.1900T>G (p.Leu634Val)
|
|
|
|
NM_000179.3(MSH6):c.1901T>C (p.Leu634Ser)
|
|
|
|
NM_000179.3(MSH6):c.1903A>G (p.Arg635Gly)
|
|
|
|
NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)
|
rs1558663439
|
|
|
NM_000179.3(MSH6):c.1904G>C (p.Arg635Thr)
|
|
|
|
NM_000179.3(MSH6):c.1906A>G (p.Thr636Ala)
|
|
|
|
NM_000179.3(MSH6):c.1907C>A (p.Thr636Asn)
|
rs1553413281
|
|
|
NM_000179.3(MSH6):c.1907C>G (p.Thr636Ser)
|
rs1553413281
|
|
|
NM_000179.3(MSH6):c.1907C>T (p.Thr636Ile)
|
rs1553413281
|
|
|
NM_000179.3(MSH6):c.1909C>G (p.Leu637Val)
|
rs1669391709
|
|
|
NM_000179.3(MSH6):c.1909C>T (p.Leu637Phe)
|
rs1669391709
|
|
|
NM_000179.3(MSH6):c.1910T>A (p.Leu637His)
|
|
|
|
NM_000179.3(MSH6):c.1911_1912delinsTG (p.Leu638Val)
|
rs1553413293
|
|
|
NM_000179.3(MSH6):c.1912_1914del (p.Leu638del)
|
rs1060502877
|
|
|
NM_000179.3(MSH6):c.1913T>C (p.Leu638Pro)
|
rs1553413298
|
|
|
NM_000179.3(MSH6):c.1915G>C (p.Glu639Gln)
|
|
|
|
NM_000179.3(MSH6):c.1917G>C (p.Glu639Asp)
|
rs368059229
|
|
|
NM_000179.3(MSH6):c.1918G>A (p.Glu640Lys)
|
|
|
|
NM_000179.3(MSH6):c.1918GAA[1] (p.Glu641del)
|
rs786203970
|
|
|
NM_000179.3(MSH6):c.1919A>G (p.Glu640Gly)
|
rs953951846
|
|
|
NM_000179.3(MSH6):c.191C>A (p.Ala64Glu)
|
rs1553408348
|
|
|
NM_000179.3(MSH6):c.191C>T (p.Ala64Val)
|
rs1553408348
|
|
|
NM_000179.3(MSH6):c.1920A>T (p.Glu640Asp)
|
rs1572724974
|
|
|
NM_000179.3(MSH6):c.1922A>G (p.Glu641Gly)
|
rs2104376429
|
|
|
NM_000179.3(MSH6):c.1924T>C (p.Tyr642His)
|
|
|
|
NM_000179.3(MSH6):c.1929T>A (p.Phe643Leu)
|
rs1057523080
|
|
|
NM_000179.3(MSH6):c.1930A>T (p.Arg644Trp)
|
|
|
|
NM_000179.3(MSH6):c.1931G>A (p.Arg644Lys)
|
|
|
|
NM_000179.3(MSH6):c.1936A>G (p.Lys646Glu)
|
rs2104377347
|
|
|
NM_000179.3(MSH6):c.1938G>T (p.Lys646Asn)
|
rs758631207
|
|
|
NM_000179.3(MSH6):c.1939C>G (p.Leu647Val)
|
rs2104377614
|
|
|
NM_000179.3(MSH6):c.193T>A (p.Ser65Thr)
|
|
|
|
NM_000179.3(MSH6):c.193T>C (p.Ser65Pro)
|
rs1553408350
|
|
|
NM_000179.3(MSH6):c.193T>G (p.Ser65Ala)
|
rs1553408350
|
|
|
NM_000179.3(MSH6):c.1940T>A (p.Leu647Gln)
|
rs1669396442
|
|
|
NM_000179.3(MSH6):c.1940T>C (p.Leu647Pro)
|
|
|
|
NM_000179.3(MSH6):c.1942A>C (p.Ser648Arg)
|
rs965228819
|
|
|
NM_000179.3(MSH6):c.1942A>G (p.Ser648Gly)
|
|
|
|
NM_000179.3(MSH6):c.1943G>T (p.Ser648Ile)
|
rs876661082
|
|
|
NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly)
|
rs777799551
|
|
|
NM_000179.3(MSH6):c.1949G>A (p.Gly650Asp)
|
rs1669397095
|
|
|
NM_000179.3(MSH6):c.1954G>C (p.Gly652Arg)
|
rs1553413323
|
|
|
NM_000179.3(MSH6):c.1954G>T (p.Gly652Trp)
|
rs1553413323
|
|
|
NM_000179.3(MSH6):c.1955G>A (p.Gly652Glu)
|
rs1558663683
|
|
|
NM_000179.3(MSH6):c.1957G>T (p.Val653Leu)
|
rs768095444
|
|
|
NM_000179.3(MSH6):c.195A>G (p.Ser65=)
|
rs1572698398
|
|
|
NM_000179.3(MSH6):c.1960A>C (p.Met654Leu)
|
rs1669399925
|
|
|
NM_000179.3(MSH6):c.1960A>G (p.Met654Val)
|
rs1669399925
|
|
|
NM_000179.3(MSH6):c.1961T>C (p.Met654Thr)
|
rs761433489
|
|
|
NM_000179.3(MSH6):c.1963T>A (p.Leu655Ile)
|
rs786203468
|
|
|
NM_000179.3(MSH6):c.1964T>C (p.Leu655Ser)
|
rs2104379257
|
|
|
NM_000179.3(MSH6):c.1967C>G (p.Pro656Arg)
|
rs1669401102
|
|
|
NM_000179.3(MSH6):c.1967C>T (p.Pro656Leu)
|
rs1669401102
|
|
|
NM_000179.3(MSH6):c.196C>A (p.Pro66Thr)
|
|
|
|
NM_000179.3(MSH6):c.196C>G (p.Pro66Ala)
|
rs1572698406
|
|
|
NM_000179.3(MSH6):c.1971G>A (p.Gln657=)
|
rs1553413339
|
|
|
NM_000179.3(MSH6):c.1971G>C (p.Gln657His)
|
rs1553413339
|
|
|
NM_000179.3(MSH6):c.1971G>T (p.Gln657His)
|
|
|
|
NM_000179.3(MSH6):c.1972G>A (p.Val658Met)
|
rs1553413340
|
|
|
NM_000179.3(MSH6):c.1972G>T (p.Val658Leu)
|
rs1553413340
|
|
|
NM_000179.3(MSH6):c.1975C>T (p.Leu659Phe)
|
rs1669402625
|
|
|
NM_000179.3(MSH6):c.1978A>C (p.Lys660Gln)
|
rs1060502894
|
|
|
NM_000179.3(MSH6):c.1978A>G (p.Lys660Glu)
|
rs1060502894
|
|
|
NM_000179.3(MSH6):c.1979A>C (p.Lys660Thr)
|
rs1669403194
|
|
|
NM_000179.3(MSH6):c.197C>A (p.Pro66Gln)
|
rs730881812
|
|
|
NM_000179.3(MSH6):c.1982G>A (p.Gly661Asp)
|
rs1553413342
|
|
|
NM_000179.3(MSH6):c.1984A>T (p.Met662Leu)
|
rs1060502935
|
|
|
NM_000179.3(MSH6):c.1985T>C (p.Met662Thr)
|
rs1553413349
|
|
|
NM_000179.3(MSH6):c.1985T>G (p.Met662Arg)
|
|
|
|
NM_000179.3(MSH6):c.1985_1987dup (p.Met662dup)
|
rs1669404423
|
|
|
NM_000179.3(MSH6):c.1986G>A (p.Met662Ile)
|
rs1669404759
|
|
|
NM_000179.3(MSH6):c.1988C>G (p.Thr663Ser)
|
|
|
|
NM_000179.3(MSH6):c.1988C>T (p.Thr663Ile)
|
rs1558663789
|
|
|
NM_000179.3(MSH6):c.1990T>G (p.Ser664Ala)
|
rs1558663809
|
|
|
NM_000179.3(MSH6):c.1991C>T (p.Ser664Leu)
|
rs1553413355
|
|
|
NM_000179.3(MSH6):c.1994A>G (p.Glu665Gly)
|
rs786201952
|
|
|
NM_000179.3(MSH6):c.1996T>C (p.Ser666Pro)
|
rs587779222
|
|
|
NM_000179.3(MSH6):c.1997C>A (p.Ser666Tyr)
|
rs760494271
|
|
|
NM_000179.3(MSH6):c.1997C>G (p.Ser666Cys)
|
rs760494271
|
|
|
NM_000179.3(MSH6):c.1999G>A (p.Asp667Asn)
|
|
|
|
NM_000179.3(MSH6):c.199C>A (p.Pro67Thr)
|
rs878853712
|
|
|
NM_000179.3(MSH6):c.199C>T (p.Pro67Ser)
|
rs878853712
|
|
|
NM_000179.3(MSH6):c.19C>A (p.Leu7Met)
|
rs1064795094
|
|
|
NM_000179.3(MSH6):c.19C>G (p.Leu7Val)
|
rs1064795094
|
|
|
NM_000179.3(MSH6):c.2000A>T (p.Asp667Val)
|
rs2104381654
|
|
|
NM_000179.3(MSH6):c.2001T>G (p.Asp667Glu)
|
rs1361745058
|
|
|
NM_000179.3(MSH6):c.2002T>C (p.Ser668Pro)
|
rs876661080
|
|
|
NM_000179.3(MSH6):c.2003C>G (p.Ser668Cys)
|
|
|
|
NM_000179.3(MSH6):c.2003C>T (p.Ser668Phe)
|
rs923709484
|
|
|
NM_000179.3(MSH6):c.2008G>T (p.Gly670Trp)
|
|
|
|
NM_000179.3(MSH6):c.2009G>C (p.Gly670Ala)
|
rs2104382452
|
|
|
NM_000179.3(MSH6):c.2011T>A (p.Leu671Met)
|
|
|
|
NM_000179.3(MSH6):c.2013G>A (p.Leu671=)
|
rs765289515
|
|
|
NM_000179.3(MSH6):c.2013G>T (p.Leu671Phe)
|
rs765289515
|
|
|
NM_000179.3(MSH6):c.2015C>T (p.Thr672Ile)
|
rs1460598011
|
|
|
NM_000179.3(MSH6):c.2017C>A (p.Pro673Thr)
|
|
|
|
NM_000179.3(MSH6):c.2017C>T (p.Pro673Ser)
|
rs377356882
|
|
|
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu)
|
rs864622085
|
|
|
NM_000179.3(MSH6):c.2021G>C (p.Gly674Ala)
|
|
|
|
NM_000179.3(MSH6):c.2023G>C (p.Glu675Gln)
|
rs878853713
|
|
|
NM_000179.3(MSH6):c.2024A>G (p.Glu675Gly)
|
rs1572725363
|
|
|
NM_000179.3(MSH6):c.2024_2029del (p.Glu675_Ser677delinsGly)
|
|
|
|
NM_000179.3(MSH6):c.2027A>C (p.Lys676Thr)
|
|
|
|
NM_000179.3(MSH6):c.2027A>T (p.Lys676Ile)
|
|
|
|
NM_000179.3(MSH6):c.2029A>G (p.Ser677Gly)
|
|
|
|
NM_000179.3(MSH6):c.202A>C (p.Lys68Gln)
|
|
|
|
NM_000179.3(MSH6):c.2030G>A (p.Ser677Asn)
|
rs587779224
|
|
|
NM_000179.3(MSH6):c.2033A>G (p.Glu678Gly)
|
rs1553413404
|
|
|
NM_000179.3(MSH6):c.2035T>G (p.Leu679Val)
|
rs757741943
|
|
|
NM_000179.3(MSH6):c.2036T>G (p.Leu679Trp)
|
rs781668793
|
|
|
NM_000179.3(MSH6):c.2038G>A (p.Ala680Thr)
|
rs1572725427
|
|
|
NM_000179.3(MSH6):c.2038G>C (p.Ala680Pro)
|
|
|
|
NM_000179.3(MSH6):c.203A>C (p.Lys68Thr)
|
|
|
|
NM_000179.3(MSH6):c.2041C>G (p.Leu681Val)
|
rs1553413412
|
|
|
NM_000179.3(MSH6):c.2041C>T (p.Leu681Phe)
|
rs1553413412
|
|
|
NM_000179.3(MSH6):c.2044T>G (p.Ser682Ala)
|
|
|
|
NM_000179.3(MSH6):c.2045C>A (p.Ser682Tyr)
|
rs587779225
|
|
|
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe)
|
rs587779225
|
|
|
NM_000179.3(MSH6):c.2046T>A (p.Ser682=)
|
rs755329012
|
|
|
NM_000179.3(MSH6):c.2048C>G (p.Ala683Gly)
|
rs747699430
|
|
|
NM_000179.3(MSH6):c.2048C>T (p.Ala683Val)
|
rs747699430
|
|
|
NM_000179.3(MSH6):c.2050C>G (p.Leu684Val)
|
rs771445440
|
|
|
NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg)
|
rs1553413427
|
|
|
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
|
|
|
|
NM_000179.3(MSH6):c.2054G>C (p.Gly685Ala)
|
rs63750358
|
|
|
NM_000179.3(MSH6):c.2055T>C (p.Gly685=)
|
rs760299985
|
|
|
NM_000179.3(MSH6):c.205G>A (p.Ala69Thr)
|
rs1382081255
|
|
|
NM_000179.3(MSH6):c.2060G>A (p.Cys687Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2060G>C (p.Cys687Ser)
|
rs1553413433
|
|
|
NM_000179.3(MSH6):c.2060G>T (p.Cys687Phe)
|
rs1553413433
|
|
|
NM_000179.3(MSH6):c.2061T>G (p.Cys687Trp)
|
rs267608068
|
|
|
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile)
|
rs1201347192
|
|
|
NM_000179.3(MSH6):c.2065T>G (p.Phe689Val)
|
rs1558664138
|
|
|
NM_000179.3(MSH6):c.2066T>A (p.Phe689Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2067C>G (p.Phe689Leu)
|
|
|
|
NM_000179.3(MSH6):c.2069A>G (p.Tyr690Cys)
|
rs730881794
|
|
|
NM_000179.3(MSH6):c.2069A>T (p.Tyr690Phe)
|
rs730881794
|
|
|
NM_000179.3(MSH6):c.206C>G (p.Ala69Gly)
|
|
|
|
NM_000179.3(MSH6):c.206C>T (p.Ala69Val)
|
rs1558645360
|
|
|
NM_000179.3(MSH6):c.2071C>G (p.Leu691Val)
|
|
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
|
NM_000179.3(MSH6):c.2076A>C (p.Lys692Asn)
|
rs1669417999
|
|
|
NM_000179.3(MSH6):c.2078A>C (p.Lys693Thr)
|
|
|
|
NM_000179.3(MSH6):c.207GAA[3] (p.Lys70dup)
|
rs1553408369
|
|
|
NM_000179.3(MSH6):c.2083C>G (p.Leu695Val)
|
rs1669418611
|
|
|
NM_000179.3(MSH6):c.2083C>T (p.Leu695Phe)
|
rs1669418611
|
|
|
NM_000179.3(MSH6):c.2084T>G (p.Leu695Arg)
|
|
|
|
NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr)
|
rs587779229
|
|
|
NM_000179.3(MSH6):c.2089G>C (p.Asp697His)
|
rs1553413460
|
|
|
NM_000179.3(MSH6):c.2093A>G (p.Gln698Arg)
|
rs1553413465
|
|
|
NM_000179.3(MSH6):c.2095G>A (p.Glu699Lys)
|
rs1553413470
|
|
|
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile)
|
rs587779230
|
|
|
NM_000179.3(MSH6):c.2098C>G (p.Leu700Val)
|
rs587779230
|
|
|
NM_000179.3(MSH6):c.2098C>T (p.Leu700Phe)
|
rs587779230
|
|
|
NM_000179.3(MSH6):c.2099T>G (p.Leu700Arg)
|
|
|
|
NM_000179.3(MSH6):c.209A>C (p.Lys70Thr)
|
rs1668133034
|
|
|
NM_000179.3(MSH6):c.20T>C (p.Leu7Pro)
|
rs2103931561
|
|
|
NM_000179.3(MSH6):c.2102T>C (p.Leu701Ser)
|
rs1669420541
|
|
|
NM_000179.3(MSH6):c.2105C>T (p.Ser702Leu)
|
rs63751419
|
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
|
NM_000179.3(MSH6):c.210G>T (p.Lys70Asn)
|
|
|
|
NM_000179.3(MSH6):c.2111C>T (p.Ala704Val)
|
rs370237509
|
|
|
NM_000179.3(MSH6):c.2113A>G (p.Asn705Asp)
|
|
|
|
NM_000179.3(MSH6):c.2113A>T (p.Asn705Tyr)
|
rs1669422012
|
|
|
NM_000179.3(MSH6):c.2116T>A (p.Phe706Ile)
|
rs2104389521
|
|
|
NM_000179.3(MSH6):c.2116T>G (p.Phe706Val)
|
rs2104389521
|
|
|
NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)
|
rs2104389604
|
|
|
NM_000179.3(MSH6):c.2118T>G (p.Phe706Leu)
|
|
|
|
NM_000179.3(MSH6):c.211A>C (p.Asn71His)
|
rs1558645379
|
|
|
NM_000179.3(MSH6):c.211A>G (p.Asn71Asp)
|
rs1558645379
|
|
|
NM_000179.3(MSH6):c.2120A>C (p.Glu707Ala)
|
rs1553413485
|
|
|
NM_000179.3(MSH6):c.2120A>G (p.Glu707Gly)
|
rs1553413485
|
|
|
NM_000179.3(MSH6):c.2123A>G (p.Glu708Gly)
|
rs1669422822
|
|
|
NM_000179.3(MSH6):c.2125T>G (p.Tyr709Asp)
|
rs1669423193
|
|
|
NM_000179.3(MSH6):c.2126A>G (p.Tyr709Cys)
|
rs1558664366
|
|
|
NM_000179.3(MSH6):c.2128A>G (p.Ile710Val)
|
rs1669423758
|
|
|
NM_000179.3(MSH6):c.2129T>A (p.Ile710Asn)
|
rs750817344
|
|
|
NM_000179.3(MSH6):c.212A>C (p.Asn71Thr)
|
rs1553408375
|
|
|
NM_000179.3(MSH6):c.2131C>A (p.Pro711Thr)
|
rs878853714
|
|
|
NM_000179.3(MSH6):c.2131C>G (p.Pro711Ala)
|
|
|
|
NM_000179.3(MSH6):c.2131C>T (p.Pro711Ser)
|
rs878853714
|
|
|
NM_000179.3(MSH6):c.2132C>T (p.Pro711Leu)
|
rs2104390270
|
|
|
NM_000179.3(MSH6):c.2135T>C (p.Leu712Ser)
|
rs371414784
|
|
|
NM_000179.3(MSH6):c.2137G>T (p.Asp713Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2138A>G (p.Asp713Gly)
|
rs730881795
|
|
|
NM_000179.3(MSH6):c.213C>A (p.Asn71Lys)
|
|
|
|
NM_000179.3(MSH6):c.2144A>G (p.Asp715Gly)
|
rs1669425686
|
|
|
NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala)
|
rs749711246
|
|
|
NM_000179.3(MSH6):c.2147C>A (p.Thr716Lys)
|
|
|
|
NM_000179.3(MSH6):c.2147C>G (p.Thr716Arg)
|
rs587782805
|
|
|
NM_000179.3(MSH6):c.2149G>A (p.Val717Ile)
|
rs1558664476
|
|
|
NM_000179.3(MSH6):c.2149G>C (p.Val717Leu)
|
rs1558664476
|
|
|
NM_000179.3(MSH6):c.2149G>T (p.Val717Phe)
|
rs1558664476
|
|
|
NM_000179.3(MSH6):c.214C>G (p.Leu72Val)
|
rs786201910
|
|
|
NM_000179.3(MSH6):c.214C>T (p.Leu72Phe)
|
rs786201910
|
|
|
NM_000179.3(MSH6):c.2152A>G (p.Ser718Gly)
|
rs1003027504
|
|
|
NM_000179.3(MSH6):c.2152A>T (p.Ser718Cys)
|
rs1003027504
|
|
|
NM_000179.3(MSH6):c.2153G>C (p.Ser718Thr)
|
rs1669427136
|
|
|
NM_000179.3(MSH6):c.2154C>A (p.Ser718Arg)
|
rs771662801
|
|
|
NM_000179.3(MSH6):c.2156C>G (p.Thr719Ser)
|
rs373418713
|
|
|
NM_000179.3(MSH6):c.2158A>G (p.Thr720Ala)
|
rs1258419289
|
|
|
NM_000179.3(MSH6):c.2159C>G (p.Thr720Arg)
|
rs185531778
|
|
|
NM_000179.3(MSH6):c.215T>C (p.Leu72Pro)
|
|
|
|
NM_000179.3(MSH6):c.2161A>C (p.Arg721=)
|
rs537604099
|
|
|
NM_000179.3(MSH6):c.2162G>A (p.Arg721Lys)
|
rs876660319
|
|
|
NM_000179.3(MSH6):c.2162G>T (p.Arg721Ile)
|
rs876660319
|
|
|
NM_000179.3(MSH6):c.2165C>T (p.Ser722Phe)
|
rs776198410
|
|
|
NM_000179.3(MSH6):c.2167G>A (p.Gly723Ser)
|
|
|
|
NM_000179.3(MSH6):c.2167G>C (p.Gly723Arg)
|
rs1064793492
|
|
|
NM_000179.3(MSH6):c.2168G>T (p.Gly723Val)
|
|
|
|
NM_000179.3(MSH6):c.2170G>A (p.Ala724Thr)
|
rs1254757804
|
|
|
NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)
|
rs587779922
|
|
|
NM_000179.3(MSH6):c.2173A>C (p.Ile725Leu)
|
rs148898662
|
|
|
NM_000179.3(MSH6):c.2176T>C (p.Phe726Leu)
|
rs876660381
|
|
|
NM_000179.3(MSH6):c.2177T>C (p.Phe726Ser)
|
rs574358605
|
|
|
NM_000179.3(MSH6):c.2178C>A (p.Phe726Leu)
|
rs1406957215
|
|
|
NM_000179.3(MSH6):c.2179A>T (p.Thr727Ser)
|
rs761930694
|
|
|
NM_000179.3(MSH6):c.2180C>A (p.Thr727Asn)
|
rs767861096
|
|
|
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile)
|
rs767861096
|
|
|
NM_000179.3(MSH6):c.2182A>G (p.Lys728Glu)
|
rs1572726086
|
|
|
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2184A>C (p.Lys728Asn)
|
rs1553413552
|
|
|
NM_000179.3(MSH6):c.2186C>G (p.Ala729Gly)
|
rs1553413553
|
|
|
NM_000179.3(MSH6):c.2186C>T (p.Ala729Val)
|
rs1553413553
|
|
|
NM_000179.3(MSH6):c.2189A>T (p.Tyr730Phe)
|
rs587782900
|
|
|
NM_000179.3(MSH6):c.218A>C (p.Asn73Thr)
|
|
|
|
NM_000179.3(MSH6):c.218A>G (p.Asn73Ser)
|
|
|
|
NM_000179.3(MSH6):c.218A>T (p.Asn73Ile)
|
|
|
|
NM_000179.3(MSH6):c.2191C>G (p.Gln731Glu)
|
rs63751442
|
|
|
NM_000179.3(MSH6):c.2192A>T (p.Gln731Leu)
|
rs1553413559
|
|
|
NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)
|
rs749746725
|
|
|
NM_000179.3(MSH6):c.2197A>G (p.Met733Val)
|
rs1355166868
|
|
|
NM_000179.3(MSH6):c.2199G>A (p.Met733Ile)
|
rs1359474814
|
|
|
NM_000179.3(MSH6):c.2199G>C (p.Met733Ile)
|
rs1359474814
|
|
|
NM_000179.3(MSH6):c.2200G>A (p.Val734Met)
|
rs587780671
|
|
|
NM_000179.3(MSH6):c.2200G>C (p.Val734Leu)
|
rs587780671
|
|
|
NM_000179.3(MSH6):c.2201T>A (p.Val734Glu)
|
rs1060502883
|
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
|
NM_000179.3(MSH6):c.2203C>G (p.Leu735Val)
|
rs786204071
|
|
|
NM_000179.3(MSH6):c.220G>A (p.Gly74Arg)
|
rs1553408388
|
|
|
NM_000179.3(MSH6):c.2210C>G (p.Ala737Gly)
|
rs869312798
|
|
|
NM_000179.3(MSH6):c.2212G>T (p.Val738Leu)
|
|
|
|
NM_000179.3(MSH6):c.2213T>C (p.Val738Ala)
|
rs1572726232
|
|
|
NM_000179.3(MSH6):c.2215A>G (p.Thr739Ala)
|
rs1553413582
|
|
|
NM_000179.3(MSH6):c.2216C>T (p.Thr739Ile)
|
rs1553413583
|
|
|
NM_000179.3(MSH6):c.221G>T (p.Gly74Val)
|
|
|
|
NM_000179.3(MSH6):c.2223C>A (p.Asn741Lys)
|
|
|
|
NM_000179.3(MSH6):c.2225A>C (p.Asn742Thr)
|
rs878853715
|
|
|
NM_000179.3(MSH6):c.2225A>G (p.Asn742Ser)
|
rs878853715
|
|
|
NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys)
|
rs587781739
|
|
|
NM_000179.3(MSH6):c.222A>T (p.Gly74=)
|
rs888377589
|
|
|
NM_000179.3(MSH6):c.2232G>C (p.Glu744Asp)
|
|
|
|
NM_000179.3(MSH6):c.2232G>T (p.Glu744Asp)
|
|
|
|
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)
|
rs556339046
|
|
|
NM_000179.3(MSH6):c.2236T>C (p.Phe746Leu)
|
rs1553413604
|
|
|
NM_000179.3(MSH6):c.2239C>G (p.Leu747Val)
|
|
|
|
NM_000179.3(MSH6):c.2240T>G (p.Leu747Arg)
|
rs876660234
|
|
|
NM_000179.3(MSH6):c.2243A>G (p.Asn748Ser)
|
rs1669438423
|
|
|
NM_000179.3(MSH6):c.2245G>A (p.Gly749Arg)
|
rs876660143
|
|
|
NM_000179.3(MSH6):c.2246G>A (p.Gly749Glu)
|
rs1060502916
|
|
|
NM_000179.3(MSH6):c.2246G>C (p.Gly749Ala)
|
rs1060502916
|
|
|
NM_000179.3(MSH6):c.2246G>T (p.Gly749Val)
|
rs1060502916
|
|
|
NM_000179.3(MSH6):c.2248A>C (p.Thr750Pro)
|
|
|
|
NM_000179.3(MSH6):c.2249C>T (p.Thr750Ile)
|
rs730881817
|
|
|
NM_000179.3(MSH6):c.224G>A (p.Gly75Glu)
|
rs1572698482
|
|
|
NM_000179.3(MSH6):c.2251A>C (p.Asn751His)
|
|
|
|
NM_000179.3(MSH6):c.2252A>G (p.Asn751Ser)
|
|
|
|
NM_000179.3(MSH6):c.2252A>T (p.Asn751Ile)
|
rs1553413626
|
|
|
NM_000179.3(MSH6):c.2253T>G (p.Asn751Lys)
|
|
|
|
NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser)
|
|
|
|
NM_000179.3(MSH6):c.2254G>A (p.Gly752Ser)
|
rs1296033854
|
|
|
NM_000179.3(MSH6):c.2254G>C (p.Gly752Arg)
|
rs1296033854
|
|
|
NM_000179.3(MSH6):c.2255G>C (p.Gly752Ala)
|
|
|
|
NM_000179.3(MSH6):c.2258C>A (p.Ser753Tyr)
|
rs876660934
|
|
|
NM_000179.3(MSH6):c.2258C>T (p.Ser753Phe)
|
rs876660934
|
|
|
NM_000179.3(MSH6):c.225G>T (p.Gly75=)
|
rs786202321
|
|
|
NM_000179.3(MSH6):c.2260A>G (p.Thr754Ala)
|
rs545057945
|
|
|
NM_000179.3(MSH6):c.2261C>T (p.Thr754Ile)
|
rs1669440639
|
|
|
NM_000179.3(MSH6):c.2262_2270del (p.Glu755_Thr757del)
|
|
|
|
NM_000179.3(MSH6):c.2263G>A (p.Glu755Lys)
|
rs1669440921
|
|
|
NM_000179.3(MSH6):c.2264A>C (p.Glu755Ala)
|
rs1669441030
|
|
|
NM_000179.3(MSH6):c.2264A>G (p.Glu755Gly)
|
|
|
|
NM_000179.3(MSH6):c.2265A>C (p.Glu755Asp)
|
rs1553413644
|
|
|
NM_000179.3(MSH6):c.2266G>C (p.Gly756Arg)
|
rs1669441430
|
|
|
NM_000179.3(MSH6):c.2269A>G (p.Thr757Ala)
|
|
|
|
NM_000179.3(MSH6):c.226C>G (p.Leu76Val)
|
rs1553408398
|
|
|
NM_000179.3(MSH6):c.2270C>A (p.Thr757Asn)
|
rs1553413648
|
|
|
NM_000179.3(MSH6):c.2270C>T (p.Thr757Ile)
|
rs1553413648
|
|
|
NM_000179.3(MSH6):c.2272C>G (p.Leu758Val)
|
rs56371757
|
|
|
NM_000179.3(MSH6):c.2275C>G (p.Leu759Val)
|
rs1669442548
|
|
|
NM_000179.3(MSH6):c.2275_2282delinsTGGAA (p.Leu759_Arg761delinsTrpLys)
|
|
|
|
NM_000179.3(MSH6):c.2278G>A (p.Glu760Lys)
|
|
|
|
NM_000179.3(MSH6):c.2278G>C (p.Glu760Gln)
|
rs1322642187
|
|
|
NM_000179.3(MSH6):c.227T>A (p.Leu76Gln)
|
rs587780672
|
|
|
NM_000179.3(MSH6):c.2280G>C (p.Glu760Asp)
|
|
|
|
NM_000179.3(MSH6):c.2280G>T (p.Glu760Asp)
|
rs1204279922
|
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
|
NM_000179.3(MSH6):c.2282G>T (p.Arg761Met)
|
rs587779233
|
|
|
NM_000179.3(MSH6):c.2284G>A (p.Val762Ile)
|
rs1669443766
|
|
|
NM_000179.3(MSH6):c.2285T>C (p.Val762Ala)
|
rs2104398448
|
|
|
NM_000179.3(MSH6):c.2287G>A (p.Asp763Asn)
|
rs1558664969
|
|
|
NM_000179.3(MSH6):c.2287G>C (p.Asp763His)
|
|
|
|
NM_000179.3(MSH6):c.2288A>G (p.Asp763Gly)
|
rs1060502913
|
|
|
NM_000179.3(MSH6):c.2294G>A (p.Cys765Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2294G>C (p.Cys765Ser)
|
rs1553413671
|
|
|
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp)
|
rs63750985
|
|
|
NM_000179.3(MSH6):c.2297A>G (p.His766Arg)
|
rs1060502870
|
|
|
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
|
rs768535330
|
|
|
NM_000179.3(MSH6):c.2299A>G (p.Thr767Ala)
|
rs774452933
|
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
|
NM_000179.3(MSH6):c.2302C>G (p.Pro768Ala)
|
rs35946687
|
|
|
NM_000179.3(MSH6):c.2303C>A (p.Pro768His)
|
|
|
|
NM_000179.3(MSH6):c.2303C>G (p.Pro768Arg)
|
rs773162893
|
|
|
NM_000179.3(MSH6):c.2303C>T (p.Pro768Leu)
|
rs773162893
|
|
|
NM_000179.3(MSH6):c.2303_2305del (p.Pro768_Phe769delinsLeu)
|
|
|
|
NM_000179.3(MSH6):c.2309G>A (p.Gly770Asp)
|
rs587781478
|
|
|
NM_000179.3(MSH6):c.230G>A (p.Arg77Gln)
|
rs1039603215
|
|
|
NM_000179.3(MSH6):c.2312A>C (p.Lys771Thr)
|
rs864622586
|
|
|
NM_000179.3(MSH6):c.2312A>T (p.Lys771Met)
|
rs864622586
|
|
|
NM_000179.3(MSH6):c.2313G>T (p.Lys771Asn)
|
rs1572726671
|
|
|
NM_000179.3(MSH6):c.2317C>T (p.Leu773Phe)
|
rs1064793871
|
|
|
NM_000179.3(MSH6):c.2318T>A (p.Leu773His)
|
rs863224623
|
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
|
NM_000179.3(MSH6):c.2321T>C (p.Leu774Pro)
|
|
|
|
NM_000179.3(MSH6):c.2323A>C (p.Lys775Gln)
|
rs759915781
|
|
|
NM_000179.3(MSH6):c.2324A>T (p.Lys775Met)
|
|
|
|
NM_000179.3(MSH6):c.2327A>T (p.Gln776Leu)
|
rs1669449123
|
|
|
NM_000179.3(MSH6):c.2328A>T (p.Gln776His)
|
rs1463214972
|
|
|
NM_000179.3(MSH6):c.2329T>A (p.Trp777Arg)
|
rs267608067
|
|
|
NM_000179.3(MSH6):c.232A>G (p.Arg78Gly)
|
rs1553408408
|
|
|
NM_000179.3(MSH6):c.2332C>G (p.Leu778Val)
|
rs1276682605
|
|
|
NM_000179.3(MSH6):c.2332C>T (p.Leu778Phe)
|
rs1276682605
|
|
|
NM_000179.3(MSH6):c.2333T>A (p.Leu778His)
|
rs2104401359
|
|
|
NM_000179.3(MSH6):c.2335T>C (p.Cys779Arg)
|
rs1320505279
|
|
|
NM_000179.3(MSH6):c.2335T>G (p.Cys779Gly)
|
rs1320505279
|
|
|
NM_000179.3(MSH6):c.2336G>A (p.Cys779Tyr)
|
rs1669450482
|
|
|
NM_000179.3(MSH6):c.2336G>T (p.Cys779Phe)
|
|
|
|
NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp)
|
rs1553413707
|
|
|
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr)
|
rs587779235
|
|
|
NM_000179.3(MSH6):c.2344C>A (p.Leu782Ile)
|
rs1553413714
|
|
|
NM_000179.3(MSH6):c.2344C>G (p.Leu782Val)
|
rs1553413714
|
|
|
NM_000179.3(MSH6):c.234A>G (p.Arg78=)
|
rs1553408414
|
|
|
NM_000179.3(MSH6):c.2350A>G (p.Asn784Asp)
|
rs1669452197
|
|
|
NM_000179.3(MSH6):c.2352C>G (p.Asn784Lys)
|
rs1553413722
|
|
|
NM_000179.3(MSH6):c.2353C>G (p.His785Asp)
|
rs1572726859
|
|
|
NM_000179.3(MSH6):c.2354A>G (p.His785Arg)
|
rs1669452752
|
|
|
NM_000179.3(MSH6):c.2354A>T (p.His785Leu)
|
rs1669452752
|
|
|
NM_000179.3(MSH6):c.2355T>A (p.His785Gln)
|
rs1060502942
|
|
|
NM_000179.3(MSH6):c.2357A>G (p.Tyr786Cys)
|
|
|
|
NM_000179.3(MSH6):c.2359G>A (p.Ala787Thr)
|
|
|
|
NM_000179.3(MSH6):c.235T>C (p.Ser79Pro)
|
rs876660300
|
|
|
NM_000179.3(MSH6):c.2360C>G (p.Ala787Gly)
|
rs63750637
|
|
|
NM_000179.3(MSH6):c.2362A>G (p.Ile788Val)
|
rs587778530
|
|
|
NM_000179.3(MSH6):c.2365A>C (p.Asn789His)
|
rs2104402954
|
|
|
NM_000179.3(MSH6):c.2365_2367del (p.Asn789del)
|
rs2104402921
|
|
|
NM_000179.3(MSH6):c.2366A>G (p.Asn789Ser)
|
rs2104403001
|
|
|
NM_000179.3(MSH6):c.236C>T (p.Ser79Leu)
|
rs1428717797
|
|
|
NM_000179.3(MSH6):c.2371C>T (p.Arg791Cys)
|
rs749918474
|
|
|
NM_000179.3(MSH6):c.2372G>A (p.Arg791His)
|
rs755587950
|
|
|
NM_000179.3(MSH6):c.2374C>G (p.Leu792Val)
|
|
|
|
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro)
|
rs587779236
|
|
|
NM_000179.3(MSH6):c.2375T>G (p.Leu792Arg)
|
|
|
|
NM_000179.3(MSH6):c.2377G>C (p.Asp793His)
|
rs1553413737
|
|
|
NM_000179.3(MSH6):c.2378A>G (p.Asp793Gly)
|
|
|
|
NM_000179.3(MSH6):c.2379T>A (p.Asp793Glu)
|
|
|
|
NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)
|
rs865931684
|
|
|
NM_000179.3(MSH6):c.2387A>G (p.Glu796Gly)
|
rs532445704
|
|
|
NM_000179.3(MSH6):c.2389G>A (p.Asp797Asn)
|
rs2104404139
|
|
|
NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)
|
rs587779238
|
|
|
NM_000179.3(MSH6):c.2392C>T (p.Leu798Phe)
|
|
|
|
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
|
|
|
|
NM_000179.3(MSH6):c.2395A>C (p.Met799Leu)
|
rs1669456977
|
|
|
NM_000179.3(MSH6):c.2395A>G (p.Met799Val)
|
rs1669456977
|
|
|
NM_000179.3(MSH6):c.2396T>C (p.Met799Thr)
|
rs2104404527
|
|
|
NM_000179.3(MSH6):c.2397G>A (p.Met799Ile)
|
rs1669457095
|
|
|
NM_000179.3(MSH6):c.23A>G (p.Tyr8Cys)
|
rs1572697757
|
|
|
NM_000179.3(MSH6):c.23A>T (p.Tyr8Phe)
|
rs1572697757
|
|
|
NM_000179.3(MSH6):c.2401G>T (p.Val801Leu)
|
rs1265121267
|
|
|
NM_000179.3(MSH6):c.2404C>A (p.Pro802Thr)
|
rs1553413764
|
|
|
NM_000179.3(MSH6):c.2404C>T (p.Pro802Ser)
|
rs1553413764
|
|
|
NM_000179.3(MSH6):c.2407G>C (p.Asp803His)
|
rs1553413770
|
|
|
NM_000179.3(MSH6):c.2407G>T (p.Asp803Tyr)
|
rs1553413770
|
|
|
NM_000179.3(MSH6):c.2411A>C (p.Lys804Thr)
|
rs1558665377
|
|
|
NM_000179.3(MSH6):c.2414T>A (p.Ile805Asn)
|
rs1572727090
|
|
|
NM_000179.3(MSH6):c.2414T>C (p.Ile805Thr)
|
rs1572727090
|
|
|
NM_000179.3(MSH6):c.2415C>G (p.Ile805Met)
|
rs1219649543
|
|
|
NM_000179.3(MSH6):c.2416T>A (p.Ser806Thr)
|
rs1669459644
|
|
|
NM_000179.3(MSH6):c.2416T>G (p.Ser806Ala)
|
|
|
|
NM_000179.3(MSH6):c.241G>T (p.Ala81Ser)
|
rs587779239
|
|
|
NM_000179.3(MSH6):c.2422G>A (p.Val808Ile)
|
rs1434578765
|
|
|
NM_000179.3(MSH6):c.2423T>C (p.Val808Ala)
|
|
|
|
NM_000179.3(MSH6):c.2425G>A (p.Val809Ile)
|
|
|
|
NM_000179.3(MSH6):c.2425G>T (p.Val809Leu)
|
|
|
|
NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)
|
rs775815297
|
|
|
NM_000179.3(MSH6):c.2426_2428del (p.Val809del)
|
rs587779240
|
|
|
NM_000179.3(MSH6):c.2428G>A (p.Glu810Lys)
|
|
|
|
NM_000179.3(MSH6):c.242C>G (p.Ala81Gly)
|
|
|
|
NM_000179.3(MSH6):c.2431C>A (p.Leu811Ile)
|
rs1669463455
|
|
|
NM_000179.3(MSH6):c.2431C>T (p.Leu811Phe)
|
rs1669463455
|
|
|
NM_000179.3(MSH6):c.2434C>G (p.Leu812Val)
|
|
|
|
NM_000179.3(MSH6):c.2435T>C (p.Leu812Pro)
|
rs1572727192
|
|
|
NM_000179.3(MSH6):c.2437AAG[1] (p.Lys814del)
|
rs1669464545
|
|
|
NM_000179.3(MSH6):c.2438A>G (p.Lys813Arg)
|
rs1669464717
|
|
|
NM_000179.3(MSH6):c.2439G>T (p.Lys813Asn)
|
rs2104406926
|
|
|
NM_000179.3(MSH6):c.243G>C (p.Ala81=)
|
rs1057523564
|
|
|
NM_000179.3(MSH6):c.2440A>C (p.Lys814Gln)
|
rs1064793190
|
|
|
NM_000179.3(MSH6):c.2442G>C (p.Lys814Asn)
|
rs2104407043
|
|
|
NM_000179.3(MSH6):c.2443C>A (p.Leu815Ile)
|
rs377411318
|
|
|
NM_000179.3(MSH6):c.2443C>T (p.Leu815Phe)
|
rs377411318
|
|
|
NM_000179.3(MSH6):c.2444T>G (p.Leu815Arg)
|
rs760129709
|
|
|
NM_000179.3(MSH6):c.2446C>G (p.Pro816Ala)
|
rs1553413803
|
|
|
NM_000179.3(MSH6):c.2446C>T (p.Pro816Ser)
|
rs1553413803
|
|
|
NM_000179.3(MSH6):c.2447C>T (p.Pro816Leu)
|
rs1553413804
|
|
|
NM_000179.3(MSH6):c.244C>A (p.Pro82Thr)
|
rs2103944233
|
|
|
NM_000179.3(MSH6):c.244C>T (p.Pro82Ser)
|
|
|
|
NM_000179.3(MSH6):c.2452C>A (p.Leu818Ile)
|
rs786203612
|
|
|
NM_000179.3(MSH6):c.2452C>T (p.Leu818Phe)
|
rs786203612
|
|
|
NM_000179.3(MSH6):c.2455G>C (p.Glu819Gln)
|
rs1669466483
|
|
|
NM_000179.3(MSH6):c.2459G>A (p.Arg820Lys)
|
rs876661204
|
|
|
NM_000179.3(MSH6):c.2460G>T (p.Arg820Ser)
|
rs1553413812
|
|
|
NM_000179.3(MSH6):c.2460_2461delinsAA (p.Leu821Ile)
|
|
|
|
NM_000179.3(MSH6):c.2461C>G (p.Leu821Val)
|
rs1406567431
|
|
|
NM_000179.3(MSH6):c.2465T>A (p.Leu822His)
|
rs2104408194
|
|
|
NM_000179.3(MSH6):c.2467A>G (p.Ser823Gly)
|
rs267608032
|
|
|
NM_000179.3(MSH6):c.2469T>G (p.Ser823Arg)
|
|
|
|
NM_000179.3(MSH6):c.2470A>G (p.Lys824Glu)
|
rs1669467621
|
|
|
NM_000179.3(MSH6):c.2474T>A (p.Ile825Asn)
|
rs1669467866
|
|
|
NM_000179.3(MSH6):c.2476C>G (p.His826Asp)
|
rs765891603
|
|
|
NM_000179.3(MSH6):c.2476C>T (p.His826Tyr)
|
rs765891603
|
|
|
NM_000179.3(MSH6):c.2477A>G (p.His826Arg)
|
|
|
|
NM_000179.3(MSH6):c.2478T>G (p.His826Gln)
|
rs1572727338
|
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
|
NM_000179.3(MSH6):c.2479A>T (p.Asn827Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2479_2481del (p.Asn827del)
|
rs1553413826
|
|
|
NM_000179.3(MSH6):c.247G>A (p.Ala83Thr)
|
rs755964436
|
|
|
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr)
|
rs1558665569
|
|
|
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)
|
rs587781349
|
|
|
NM_000179.3(MSH6):c.2486G>C (p.Gly829Ala)
|
rs1553413832
|
|
|
NM_000179.3(MSH6):c.2488T>G (p.Ser830Ala)
|
rs1572727368
|
|
|
NM_000179.3(MSH6):c.2489C>A (p.Ser830Tyr)
|
rs1669469593
|
|
|
NM_000179.3(MSH6):c.2489C>G (p.Ser830Cys)
|
|
|
|
NM_000179.3(MSH6):c.2489C>T (p.Ser830Phe)
|
rs1669469593
|
|
|
NM_000179.3(MSH6):c.248C>A (p.Ala83Asp)
|
rs876661197
|
|
|
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)
|
rs876661197
|
|
|
NM_000179.3(MSH6):c.2491C>A (p.Pro831Thr)
|
rs267608053
|
|
|
NM_000179.3(MSH6):c.2491C>G (p.Pro831Ala)
|
rs267608053
|
|
|
NM_000179.3(MSH6):c.2491C>T (p.Pro831Ser)
|
rs267608053
|
|
|
NM_000179.3(MSH6):c.2492C>A (p.Pro831His)
|
rs1558665602
|
|
|
NM_000179.3(MSH6):c.2492C>G (p.Pro831Arg)
|
|
|
|
NM_000179.3(MSH6):c.2492C>T (p.Pro831Leu)
|
rs1558665602
|
|
|
NM_000179.3(MSH6):c.2494C>G (p.Leu832Val)
|
rs1057521330
|
|
|
NM_000179.3(MSH6):c.2495T>C (p.Leu832Pro)
|
rs1396036269
|
|
|
NM_000179.3(MSH6):c.2497A>C (p.Lys833Gln)
|
rs1669470783
|
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
|
NM_000179.3(MSH6):c.2501G>A (p.Ser834Asn)
|
rs752544046
|
|
|
NM_000179.3(MSH6):c.2502T>A (p.Ser834Arg)
|
rs1669471280
|
|
|
NM_000179.3(MSH6):c.2502T>G (p.Ser834Arg)
|
|
|
|
NM_000179.3(MSH6):c.2503C>G (p.Gln835Glu)
|
rs63751321
|
|
|
NM_000179.3(MSH6):c.2505G>C (p.Gln835His)
|
rs863224328
|
|
|
NM_000179.3(MSH6):c.2508C>G (p.Asn836Lys)
|
|
|
|
NM_000179.3(MSH6):c.2509C>A (p.His837Asn)
|
rs777593472
|
|
|
NM_000179.3(MSH6):c.2509C>G (p.His837Asp)
|
|
|
|
NM_000179.3(MSH6):c.250G>A (p.Ala84Thr)
|
rs1553408435
|
|
|
NM_000179.3(MSH6):c.250G>C (p.Ala84Pro)
|
rs1553408435
|
|
|
NM_000179.3(MSH6):c.2510A>C (p.His837Pro)
|
rs1669472143
|
|
|
NM_000179.3(MSH6):c.2512C>G (p.Pro838Ala)
|
|
|
|
NM_000179.3(MSH6):c.2512C>T (p.Pro838Ser)
|
|
|
|
NM_000179.3(MSH6):c.2513C>T (p.Pro838Leu)
|
rs770952730
|
|
|
NM_000179.3(MSH6):c.2515G>A (p.Asp839Asn)
|
rs1553413868
|
|
|
NM_000179.3(MSH6):c.2516A>T (p.Asp839Val)
|
|
|
|
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg)
|
rs863224624
|
|
|
NM_000179.3(MSH6):c.251C>A (p.Ala84Asp)
|
|
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
|
NM_000179.3(MSH6):c.2520C>G (p.Ser840Arg)
|
rs781241667
|
|
|
NM_000179.3(MSH6):c.2521A>G (p.Arg841Gly)
|
rs1669474025
|
|
|
NM_000179.3(MSH6):c.2524G>A (p.Ala842Thr)
|
rs746143003
|
|
|
NM_000179.3(MSH6):c.2524G>T (p.Ala842Ser)
|
|
|
|
NM_000179.3(MSH6):c.2525C>G (p.Ala842Gly)
|
rs876660180
|
|
|
NM_000179.3(MSH6):c.2525C>T (p.Ala842Val)
|
rs876660180
|
|
|
NM_000179.3(MSH6):c.2529A>G (p.Ile843Met)
|
rs1553413880
|
|
|
NM_000179.3(MSH6):c.2532G>A (p.Met844Ile)
|
rs786201873
|
|
|
NM_000179.3(MSH6):c.2533T>C (p.Tyr845His)
|
|
|
|
NM_000179.3(MSH6):c.2534A>C (p.Tyr845Ser)
|
rs1064794190
|
|
|
NM_000179.3(MSH6):c.2534A>G (p.Tyr845Cys)
|
rs1064794190
|
|
|
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)
|
rs779664343
|
|
|
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp)
|
rs1553413887
|
|
|
NM_000179.3(MSH6):c.2543C>A (p.Thr848Asn)
|
|
|
|
NM_000179.3(MSH6):c.2545A>G (p.Thr849Ala)
|
rs1558665776
|
|
|
NM_000179.3(MSH6):c.2545A>T (p.Thr849Ser)
|
|
|
|
NM_000179.3(MSH6):c.2548T>C (p.Tyr850His)
|
rs1558665790
|
|
|
NM_000179.3(MSH6):c.254C>T (p.Pro85Leu)
|
rs1060502945
|
|
|
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)
|
rs1553408448
|
|
|
NM_000179.3(MSH6):c.2553C>A (p.Ser851Arg)
|
|
|
|
NM_000179.3(MSH6):c.2555A>C (p.Lys852Thr)
|
rs1114167796
|
|
|
NM_000179.3(MSH6):c.2555A>G (p.Lys852Arg)
|
rs1114167796
|
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
|
NM_000179.3(MSH6):c.2558A>G (p.Lys853Arg)
|
|
|
|
NM_000179.3(MSH6):c.2560A>G (p.Lys854Glu)
|
rs2104412640
|
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
|
NM_000179.3(MSH6):c.2562G>C (p.Lys854Asn)
|
rs759048538
|
|
|
NM_000179.3(MSH6):c.2565T>G (p.Ile855Met)
|
rs1064793456
|
|
|
NM_000179.3(MSH6):c.2566A>T (p.Ile856Phe)
|
rs765012437
|
|
|
NM_000179.3(MSH6):c.2567T>C (p.Ile856Thr)
|
rs1064794084
|
|
|
NM_000179.3(MSH6):c.256A>T (p.Thr86Ser)
|
rs1553408451
|
|
|
NM_000179.3(MSH6):c.2570A>C (p.Asp857Ala)
|
rs758176077
|
|
|
NM_000179.3(MSH6):c.2570A>G (p.Asp857Gly)
|
rs758176077
|
|
|
NM_000179.3(MSH6):c.2572T>G (p.Phe858Val)
|
rs2104413316
|
|
|
NM_000179.3(MSH6):c.2575C>A (p.Leu859Ile)
|
|
|
|
NM_000179.3(MSH6):c.2575C>G (p.Leu859Val)
|
rs1553413924
|
|
|
NM_000179.3(MSH6):c.2575C>T (p.Leu859Phe)
|
rs1553413924
|
|
|
NM_000179.3(MSH6):c.2579C>G (p.Ser860Cys)
|
rs370412074
|
|
|
NM_000179.3(MSH6):c.257C>G (p.Thr86Ser)
|
rs768444916
|
|
|
NM_000179.3(MSH6):c.2581G>C (p.Ala861Pro)
|
rs1669484357
|
|
|
NM_000179.3(MSH6):c.2582C>G (p.Ala861Gly)
|
rs1553413929
|
|
|
NM_000179.3(MSH6):c.2582C>T (p.Ala861Val)
|
rs1553413929
|
|
|
NM_000179.3(MSH6):c.2585T>C (p.Leu862Pro)
|
rs1553413932
|
|
|
NM_000179.3(MSH6):c.2587G>A (p.Glu863Lys)
|
|
|
|
NM_000179.3(MSH6):c.258C>T (p.Thr86=)
|
|
|
|
NM_000179.3(MSH6):c.2590G>A (p.Gly864Arg)
|
rs1669485106
|
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
|
NM_000179.3(MSH6):c.2591G>C (p.Gly864Ala)
|
rs587781306
|
|
|
NM_000179.3(MSH6):c.2593T>C (p.Phe865Leu)
|
rs1558665927
|
|
|
NM_000179.3(MSH6):c.2593T>G (p.Phe865Val)
|
rs1558665927
|
|
|
NM_000179.3(MSH6):c.2594T>C (p.Phe865Ser)
|
rs1669485434
|
|
|
NM_000179.3(MSH6):c.2595C>G (p.Phe865Leu)
|
rs757202837
|
|
|
NM_000179.3(MSH6):c.2596A>G (p.Lys866Glu)
|
rs1553413941
|
|
|
NM_000179.3(MSH6):c.2597A>G (p.Lys866Arg)
|
rs190075874
|
|
|
NM_000179.3(MSH6):c.2597A>T (p.Lys866Ile)
|
rs190075874
|
|
|
NM_000179.3(MSH6):c.2598A>C (p.Lys866Asn)
|
rs1572727770
|
|
|
NM_000179.3(MSH6):c.2599G>C (p.Val867Leu)
|
rs745954217
|
|
|
NM_000179.3(MSH6):c.259A>C (p.Ser87Arg)
|
rs1064793939
|
|
|
NM_000179.3(MSH6):c.259A>T (p.Ser87Cys)
|
rs1064793939
|
|
|
NM_000179.3(MSH6):c.260+3A>C
|
rs1553408474
|
|
|
NM_000179.3(MSH6):c.260+3A>G
|
rs1553408474
|
|
|
NM_000179.3(MSH6):c.260+4G>A
|
rs1389301978
|
|
|
NM_000179.3(MSH6):c.260+6G>A
|
|
|
|
NM_000179.3(MSH6):c.260+6G>T
|
rs1668139912
|
|
|
NM_000179.3(MSH6):c.2602A>G (p.Met868Val)
|
rs1669486642
|
|
|
NM_000179.3(MSH6):c.2602A>T (p.Met868Leu)
|
rs1669486642
|
|
|
NM_000179.3(MSH6):c.2605T>C (p.Cys869Arg)
|
rs768941857
|
|
|
NM_000179.3(MSH6):c.2609A>C (p.Lys870Thr)
|
|
|
|
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)
|
rs1114167734
|
|
|
NM_000179.3(MSH6):c.261-3C>T
|
|
|
|
NM_000179.3(MSH6):c.261-4A>G
|
|
|
|
NM_000179.3(MSH6):c.261-6C>G
|
rs1558651835
|
|
|
NM_000179.3(MSH6):c.2611A>G (p.Ile871Val)
|
rs1572727849
|
|
|
NM_000179.3(MSH6):c.2611A>T (p.Ile871Phe)
|
rs1572727849
|
|
|
NM_000179.3(MSH6):c.2614A>G (p.Ile872Val)
|
rs1060502939
|
|
|
NM_000179.3(MSH6):c.2615T>A (p.Ile872Lys)
|
rs1064793342
|
|
|
NM_000179.3(MSH6):c.2616A>G (p.Ile872Met)
|
rs2104415318
|
|
|
NM_000179.3(MSH6):c.2617G>C (p.Gly873Arg)
|
rs1669488739
|
|
|
NM_000179.3(MSH6):c.2619G>T (p.Gly873=)
|
rs1315876988
|
|
|
NM_000179.3(MSH6):c.2624T>A (p.Met875Lys)
|
|
|
|
NM_000179.3(MSH6):c.2628A>T (p.Glu876Asp)
|
|
|
|
NM_000179.3(MSH6):c.262T>A (p.Cys88Ser)
|
rs1572708527
|
|
|
NM_000179.3(MSH6):c.2630A>C (p.Glu877Ala)
|
rs1060502873
|
|
|
NM_000179.3(MSH6):c.2632G>A (p.Val878Ile)
|
|
|
|
NM_000179.3(MSH6):c.2632G>C (p.Val878Leu)
|
rs1669490068
|
|
|
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)
|
rs2020912
|
|
|
NM_000179.3(MSH6):c.2636C>A (p.Ala879Asp)
|
rs1558666061
|
|
|
NM_000179.3(MSH6):c.2636C>T (p.Ala879Val)
|
|
|
|
NM_000179.3(MSH6):c.2638G>C (p.Asp880His)
|
|
|
|
NM_000179.3(MSH6):c.263G>C (p.Cys88Ser)
|
|
|
|
NM_000179.3(MSH6):c.2641delinsAAA (p.Gly881fs)
|
|
|
|
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer)
|
rs63751408
|
|
|
NM_000179.3(MSH6):c.2642G>A (p.Gly881Asp)
|
|
|
|
NM_000179.3(MSH6):c.2642G>T (p.Gly881Val)
|
rs1669491241
|
|
|
NM_000179.3(MSH6):c.2648A>G (p.Lys883Arg)
|
|
|
|
NM_000179.3(MSH6):c.2651C>T (p.Ser884Phe)
|
rs561217424
|
|
|
NM_000179.3(MSH6):c.2653A>C (p.Lys885Gln)
|
rs587782593
|
|
|
NM_000179.3(MSH6):c.2655A>C (p.Lys885Asn)
|
rs1553413977
|
|
|
NM_000179.3(MSH6):c.2656A>G (p.Ile886Val)
|
rs2020914
|
|
|
NM_000179.3(MSH6):c.2656A>T (p.Ile886Phe)
|
|
|
|
NM_000179.3(MSH6):c.2657T>C (p.Ile886Thr)
|
rs2104417479
|
|
|
NM_000179.3(MSH6):c.2659C>T (p.Leu887Phe)
|
rs1423320900
|
|
|
NM_000179.3(MSH6):c.265G>A (p.Asp89Asn)
|
rs1668683890
|
|
|
NM_000179.3(MSH6):c.2660T>C (p.Leu887Pro)
|
rs1558666142
|
|
|
NM_000179.3(MSH6):c.2660T>G (p.Leu887Arg)
|
rs1558666142
|
|
|
NM_000179.3(MSH6):c.2660_2662dup (p.Leu887_Lys888insIle)
|
rs876659363
|
|
|
NM_000179.3(MSH6):c.2663A>T (p.Lys888Met)
|
|
|
|
NM_000179.3(MSH6):c.2668G>C (p.Val890Leu)
|
rs786202628
|
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
|
NM_000179.3(MSH6):c.2669T>A (p.Val890Asp)
|
rs1114167741
|
|
|
NM_000179.3(MSH6):c.266A>G (p.Asp89Gly)
|
rs1311655109
|
|
|
NM_000179.3(MSH6):c.2670C>A (p.Val890=)
|
rs863224625
|
|
|
NM_000179.3(MSH6):c.2674T>C (p.Ser892Pro)
|
|
|
|
NM_000179.3(MSH6):c.2674T>G (p.Ser892Ala)
|
rs1572728123
|
|
|
NM_000179.3(MSH6):c.2675C>A (p.Ser892Tyr)
|
|
|
|
NM_000179.3(MSH6):c.2675C>G (p.Ser892Cys)
|
rs1669495972
|
|
|
NM_000179.3(MSH6):c.2677C>A (p.Leu893Met)
|
rs370754319
|
|
|
NM_000179.3(MSH6):c.2681A>C (p.Gln894Pro)
|
rs1669496676
|
|
|
NM_000179.3(MSH6):c.2681A>G (p.Gln894Arg)
|
|
|
|
NM_000179.3(MSH6):c.2681A>T (p.Gln894Leu)
|
|
|
|
NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)
|
rs780081278
|
|
|
NM_000179.3(MSH6):c.2686A>G (p.Lys896Glu)
|
rs1553414015
|
|
|
NM_000179.3(MSH6):c.2687A>G (p.Lys896Arg)
|
|
|
|
NM_000179.3(MSH6):c.2689A>G (p.Asn897Asp)
|
|
|
|
NM_000179.3(MSH6):c.2689A>T (p.Asn897Tyr)
|
rs1064794771
|
|
|
NM_000179.3(MSH6):c.2692C>A (p.Pro898Thr)
|
rs1114167700
|
|
|
NM_000179.3(MSH6):c.2695G>C (p.Glu899Gln)
|
|
|
|
NM_000179.3(MSH6):c.2698G>C (p.Gly900Arg)
|
rs2104419723
|
|
|
NM_000179.3(MSH6):c.2699G>A (p.Gly900Asp)
|
rs2104419774
|
|
|
NM_000179.3(MSH6):c.26G>A (p.Ser9Asn)
|
rs1572697767
|
|
|
NM_000179.3(MSH6):c.2701C>G (p.Arg901Gly)
|
rs772514245
|
|
|
NM_000179.3(MSH6):c.2701C>T (p.Arg901Cys)
|
rs772514245
|
|
|
NM_000179.3(MSH6):c.2702G>C (p.Arg901Pro)
|
|
|
|
NM_000179.3(MSH6):c.2704T>C (p.Phe902Leu)
|
rs1669499938
|
|
|
NM_000179.3(MSH6):c.2705T>A (p.Phe902Tyr)
|
rs1553414039
|
|
|
NM_000179.3(MSH6):c.2706T>G (p.Phe902Leu)
|
|
|
|
NM_000179.3(MSH6):c.2707C>A (p.Pro903Thr)
|
|
|
|
NM_000179.3(MSH6):c.2708C>G (p.Pro903Arg)
|
|
|
|
NM_000179.3(MSH6):c.2708C>T (p.Pro903Leu)
|
rs1060502919
|
|
|
NM_000179.3(MSH6):c.270C>G (p.Phe90Leu)
|
rs2104098775
|
|
|
NM_000179.3(MSH6):c.2710G>A (p.Asp904Asn)
|
rs1379402512
|
|
|
NM_000179.3(MSH6):c.2711A>G (p.Asp904Gly)
|
rs1553414049
|
|
|
NM_000179.3(MSH6):c.2712T>G (p.Asp904Glu)
|
rs374401174
|
|
|
NM_000179.3(MSH6):c.2714T>G (p.Leu905Trp)
|
|
|
|
NM_000179.3(MSH6):c.2716A>T (p.Thr906Ser)
|
|
|
|
NM_000179.3(MSH6):c.2719G>A (p.Val907Ile)
|
rs1558666445
|
|
|
NM_000179.3(MSH6):c.2722G>A (p.Glu908Lys)
|
rs886056144
|
|
|
NM_000179.3(MSH6):c.2722G>C (p.Glu908Gln)
|
|
|
|
NM_000179.3(MSH6):c.2723A>T (p.Glu908Val)
|
|
|
|
NM_000179.3(MSH6):c.2726T>C (p.Leu909Ser)
|
rs969521586
|
|
|
NM_000179.3(MSH6):c.2728A>C (p.Asn910His)
|
|
|
|
NM_000179.3(MSH6):c.2728A>G (p.Asn910Asp)
|
rs2104421171
|
|
|
NM_000179.3(MSH6):c.2729A>C (p.Asn910Thr)
|
rs1669503562
|
|
|
NM_000179.3(MSH6):c.272C>T (p.Ser91Leu)
|
rs864622559
|
|
|
NM_000179.3(MSH6):c.2730C>G (p.Asn910Lys)
|
rs773837927
|
|
|
NM_000179.3(MSH6):c.2731C>G (p.Arg911Gly)
|
|
|
|
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)
|
rs761622304
|
|
|
NM_000179.3(MSH6):c.2732G>C (p.Arg911Pro)
|
rs761622304
|
|
|
NM_000179.3(MSH6):c.2732G>T (p.Arg911Leu)
|
rs761622304
|
|
|
NM_000179.3(MSH6):c.2733A>G (p.Arg911=)
|
rs1553414083
|
|
|
NM_000179.3(MSH6):c.2734T>A (p.Trp912Arg)
|
rs1060502869
|
|
|
NM_000179.3(MSH6):c.2734T>C (p.Trp912Arg)
|
rs1060502869
|
|
|
NM_000179.3(MSH6):c.2736G>C (p.Trp912Cys)
|
rs1572728472
|
|
|
NM_000179.3(MSH6):c.2736G>T (p.Trp912Cys)
|
rs1572728472
|
|
|
NM_000179.3(MSH6):c.2738A>G (p.Asp913Gly)
|
rs750404946
|
|
|
NM_000179.3(MSH6):c.2740A>G (p.Thr914Ala)
|
rs2104421790
|
|
|
NM_000179.3(MSH6):c.2740A>T (p.Thr914Ser)
|
|
|
|
NM_000179.3(MSH6):c.2741C>A (p.Thr914Lys)
|
rs1553414094
|
|
|
NM_000179.3(MSH6):c.2741C>G (p.Thr914Arg)
|
|
|
|
NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile)
|
rs1553414094
|
|
|
NM_000179.3(MSH6):c.2743G>A (p.Ala915Thr)
|
rs1558666565
|
|
|
NM_000179.3(MSH6):c.2743G>T (p.Ala915Ser)
|
rs1558666565
|
|
|
NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)
|
rs766427609
|
|
|
NM_000179.3(MSH6):c.2744C>T (p.Ala915Val)
|
rs766427609
|
|
|
NM_000179.3(MSH6):c.2749G>C (p.Asp917His)
|
rs2104422257
|
|
|
NM_000179.3(MSH6):c.274C>T (p.Pro92Ser)
|
rs2104099000
|
|
|
NM_000179.3(MSH6):c.2750A>C (p.Asp917Ala)
|
rs1669506919
|
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
|
NM_000179.3(MSH6):c.2753A>G (p.His918Arg)
|
rs754948438
|
|
|
NM_000179.3(MSH6):c.2754T>G (p.His918Gln)
|
|
|
|
NM_000179.3(MSH6):c.2755G>A (p.Glu919Lys)
|
rs1553414110
|
|
|
NM_000179.3(MSH6):c.2756A>G (p.Glu919Gly)
|
rs1669507683
|
|
|
NM_000179.3(MSH6):c.2757A>C (p.Glu919Asp)
|
rs866493167
|
|
|
NM_000179.3(MSH6):c.2758A>G (p.Lys920Glu)
|
|
|
|
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu)
|
rs1257646433
|
|
|
NM_000179.3(MSH6):c.275_276inv (p.Pro92Leu)
|
|
|
|
NM_000179.3(MSH6):c.2760G>C (p.Lys920Asn)
|
rs1553414113
|
|
|
NM_000179.3(MSH6):c.2764C>G (p.Arg922Gly)
|
rs587779246
|
|
|
NM_000179.3(MSH6):c.2765G>C (p.Arg922Pro)
|
|
|
|
NM_000179.3(MSH6):c.2767A>G (p.Lys923Glu)
|
rs1558666660
|
|
|
NM_000179.3(MSH6):c.2768A>G (p.Lys923Arg)
|
rs1553414124
|
|
|
NM_000179.3(MSH6):c.2771C>G (p.Thr924Ser)
|
rs1553414130
|
|
|
NM_000179.3(MSH6):c.2771C>T (p.Thr924Ile)
|
rs1553414130
|
|
|
NM_000179.3(MSH6):c.2776C>G (p.Leu926Val)
|
rs587781318
|
|
|
NM_000179.3(MSH6):c.2777T>C (p.Leu926Pro)
|
rs1060502948
|
|
|
NM_000179.3(MSH6):c.2777T>G (p.Leu926Arg)
|
rs1060502948
|
|
|
NM_000179.3(MSH6):c.2779A>T (p.Ile927Phe)
|
rs2104423709
|
|
|
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala)
|
rs1057519255
|
|
|
NM_000179.3(MSH6):c.2785C>A (p.Pro929Thr)
|
rs1553414139
|
|
|
NM_000179.3(MSH6):c.2785C>G (p.Pro929Ala)
|
rs1553414139
|
|
|
NM_000179.3(MSH6):c.2788A>C (p.Lys930Gln)
|
rs878853719
|
|
|
NM_000179.3(MSH6):c.2788A>G (p.Lys930Glu)
|
rs878853719
|
|
|
NM_000179.3(MSH6):c.2789A>G (p.Lys930Arg)
|
rs878853720
|
|
|
NM_000179.3(MSH6):c.2790A>T (p.Lys930Asn)
|
rs1572728711
|
|
|
NM_000179.3(MSH6):c.2792C>G (p.Ala931Gly)
|
|
|
|
NM_000179.3(MSH6):c.2792C>T (p.Ala931Val)
|
rs927587365
|
|
|
NM_000179.3(MSH6):c.2794G>A (p.Gly932Ser)
|
|
|
|
NM_000179.3(MSH6):c.2795G>T (p.Gly932Val)
|
rs786203914
|
|
|
NM_000179.3(MSH6):c.2797T>C (p.Phe933Leu)
|
rs1553414155
|
|
|
NM_000179.3(MSH6):c.27C>A (p.Ser9Arg)
|
rs1572697773
|
|
|
NM_000179.3(MSH6):c.2800G>C (p.Asp934His)
|
rs2104424683
|
|
|
NM_000179.3(MSH6):c.2802C>G (p.Asp934Glu)
|
rs1669512732
|
|
|
NM_000179.3(MSH6):c.2803T>C (p.Ser935Pro)
|
rs1669512980
|
|
|
NM_000179.3(MSH6):c.2804C>T (p.Ser935Phe)
|
rs1553414162
|
|
|
NM_000179.3(MSH6):c.2806G>A (p.Asp936Asn)
|
rs876659904
|
|
|
NM_000179.3(MSH6):c.2806G>C (p.Asp936His)
|
rs876659904
|
|
|
NM_000179.3(MSH6):c.2808T>A (p.Asp936Glu)
|
rs771925410
|
|
|
NM_000179.3(MSH6):c.2809T>C (p.Tyr937His)
|
|
|
|
NM_000179.3(MSH6):c.280G>A (p.Asp94Asn)
|
rs1553410216
|
|
|
NM_000179.3(MSH6):c.2810A>G (p.Tyr937Cys)
|
rs1572728780
|
|
|
NM_000179.3(MSH6):c.2812G>C (p.Asp938His)
|
rs1553414175
|
|
|
NM_000179.3(MSH6):c.2814C>G (p.Asp938Glu)
|
|
|
|
NM_000179.3(MSH6):c.2815C>G (p.Gln939Glu)
|
|
|
|
NM_000179.3(MSH6):c.2819C>G (p.Ala940Gly)
|
|
|
|
NM_000179.3(MSH6):c.2821C>G (p.Leu941Val)
|
rs1114167730
|
|
|
NM_000179.3(MSH6):c.2821C>T (p.Leu941Phe)
|
|
|
|
NM_000179.3(MSH6):c.2827G>C (p.Asp943His)
|
rs143520357
|
|
|
NM_000179.3(MSH6):c.2830A>T (p.Ile944Leu)
|
|
|
|
NM_000179.3(MSH6):c.2832A>G (p.Ile944Met)
|
|
|
|
NM_000179.3(MSH6):c.2833_2835del (p.Arg945del)
|
rs1553414199
|
|
|
NM_000179.3(MSH6):c.2834G>A (p.Arg945Lys)
|
|
|
|
NM_000179.3(MSH6):c.2837A>G (p.Glu946Gly)
|
rs1669516579
|
|
|
NM_000179.3(MSH6):c.2837A>T (p.Glu946Val)
|
|
|
|
NM_000179.3(MSH6):c.2838A>C (p.Glu946Asp)
|
|
|
|
NM_000179.3(MSH6):c.2839A>G (p.Asn947Asp)
|
|
|
|
NM_000179.3(MSH6):c.283T>G (p.Leu95Val)
|
rs786202397
|
|
|
NM_000179.3(MSH6):c.2844A>T (p.Glu948Asp)
|
rs1558666921
|
|
|
NM_000179.3(MSH6):c.2847G>C (p.Gln949His)
|
|
|
|
NM_000179.3(MSH6):c.2849G>A (p.Ser950Asn)
|
rs1669517990
|
|
|
NM_000179.3(MSH6):c.284T>G (p.Leu95Trp)
|
rs1668685873
|
|
|
NM_000179.3(MSH6):c.2857G>C (p.Glu953Gln)
|
rs753034685
|
|
|
NM_000179.3(MSH6):c.2859A>C (p.Glu953Asp)
|
rs1669520175
|
|
|
NM_000179.3(MSH6):c.2860T>C (p.Tyr954His)
|
rs1669520283
|
|
|
NM_000179.3(MSH6):c.2866G>A (p.Glu956Lys)
|
rs935578138
|
|
|
NM_000179.3(MSH6):c.2866G>C (p.Glu956Gln)
|
rs935578138
|
|
|
NM_000179.3(MSH6):c.2869A>G (p.Lys957Glu)
|
rs876661255
|
|
|
NM_000179.3(MSH6):c.286G>C (p.Val96Leu)
|
|
|
|
NM_000179.3(MSH6):c.286G>T (p.Val96Phe)
|
rs984265203
|
|
|
NM_000179.3(MSH6):c.2871A>T (p.Lys957Asn)
|
rs778079788
|
|
|
NM_000179.3(MSH6):c.2872C>G (p.Gln958Glu)
|
rs1553414236
|
|
|
NM_000179.3(MSH6):c.2873A>T (p.Gln958Leu)
|
|
|
|
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis)
|
rs1572729044
|
|
|
NM_000179.3(MSH6):c.2875C>A (p.Arg959Ser)
|
rs751973865
|
|
|
NM_000179.3(MSH6):c.2876G>C (p.Arg959Pro)
|
rs757653982
|
|
|
NM_000179.3(MSH6):c.2878A>C (p.Asn960His)
|
|
|
|
NM_000179.3(MSH6):c.2878A>G (p.Asn960Asp)
|
rs2104428431
|
|
|
NM_000179.3(MSH6):c.2879A>C (p.Asn960Thr)
|
|
|
|
NM_000179.3(MSH6):c.2879A>G (p.Asn960Ser)
|
rs746341645
|
|
|
NM_000179.3(MSH6):c.2882G>T (p.Arg961Ile)
|
rs587781458
|
|
|
NM_000179.3(MSH6):c.2884A>G (p.Ile962Val)
|
rs1572729104
|
|
|
NM_000179.3(MSH6):c.2887G>A (p.Gly963Ser)
|
rs2104428845
|
|
|
NM_000179.3(MSH6):c.2887G>T (p.Gly963Cys)
|
|
|
|
NM_000179.3(MSH6):c.2890T>C (p.Cys964Arg)
|
rs1669523927
|
|
|
NM_000179.3(MSH6):c.2891G>A (p.Cys964Tyr)
|
rs2104429020
|
|
|
NM_000179.3(MSH6):c.2893A>G (p.Arg965Gly)
|
rs1669524222
|
|
|
NM_000179.3(MSH6):c.2893A>T (p.Arg965Trp)
|
|
|
|
NM_000179.3(MSH6):c.2894G>C (p.Arg965Thr)
|
rs1553414252
|
|
|
NM_000179.3(MSH6):c.2895G>C (p.Arg965Ser)
|
rs1558667093
|
|
|
NM_000179.3(MSH6):c.2895G>T (p.Arg965Ser)
|
|
|
|
NM_000179.3(MSH6):c.2896A>G (p.Thr966Ala)
|
rs1669524537
|
|
|
NM_000179.3(MSH6):c.2897C>T (p.Thr966Ile)
|
rs1183568138
|
|
|
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)
|
rs876661067
|
|
|
NM_000179.3(MSH6):c.2900T>C (p.Ile967Thr)
|
|
|
|
NM_000179.3(MSH6):c.2900T>G (p.Ile967Arg)
|
|
|
|
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)
|
rs1348956744
|
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
|
NM_000179.3(MSH6):c.290G>C (p.Trp97Ser)
|
rs752680756
|
|
|
NM_000179.3(MSH6):c.2911_2913del (p.Gly971del)
|
rs1054003194
|
|
|
NM_000179.3(MSH6):c.2913G>T (p.Gly971=)
|
rs1572729232
|
|
|
NM_000179.3(MSH6):c.2915T>C (p.Ile972Thr)
|
|
|
|
NM_000179.3(MSH6):c.2918G>C (p.Gly973Ala)
|
rs1558667196
|
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
|
NM_000179.3(MSH6):c.291G>C (p.Trp97Cys)
|
rs1572708589
|
|
|
NM_000179.3(MSH6):c.2922G>C (p.Arg974Ser)
|
|
|
|
NM_000179.3(MSH6):c.2923A>C (p.Asn975His)
|
rs1553414294
|
|
|
NM_000179.3(MSH6):c.2929T>G (p.Tyr977Asp)
|
rs1669528965
|
|
|
NM_000179.3(MSH6):c.292G>T (p.Ala98Ser)
|
rs878853725
|
|
|
NM_000179.3(MSH6):c.2932C>G (p.Gln978Glu)
|
rs587781372
|
|
|
NM_000179.3(MSH6):c.2934G>C (p.Gln978His)
|
rs751780309
|
|
|
NM_000179.3(MSH6):c.2936T>C (p.Leu979Pro)
|
rs1218426245
|
|
|
NM_000179.3(MSH6):c.2938G>C (p.Glu980Gln)
|
rs2104431856
|
|
|
NM_000179.3(MSH6):c.293C>T (p.Ala98Val)
|
|
|
|
NM_000179.3(MSH6):c.2941A>G (p.Ile981Val)
|
rs730881799
|
|
|
NM_000179.3(MSH6):c.2942T>C (p.Ile981Thr)
|
rs1669530348
|
|
|
NM_000179.3(MSH6):c.2944C>G (p.Pro982Ala)
|
rs1553414320
|
|
|
NM_000179.3(MSH6):c.2945C>A (p.Pro982His)
|
rs2104432331
|
|
|
NM_000179.3(MSH6):c.2947G>A (p.Glu983Lys)
|
rs538761360
|
|
|
NM_000179.3(MSH6):c.2949G>T (p.Glu983Asp)
|
rs780485157
|
|
|
NM_000179.3(MSH6):c.2950A>G (p.Asn984Asp)
|
rs146359682
|
|
|
NM_000179.3(MSH6):c.2950A>T (p.Asn984Tyr)
|
rs146359682
|
|
|
NM_000179.3(MSH6):c.2951A>T (p.Asn984Ile)
|
rs587779927
|
|
|
NM_000179.3(MSH6):c.2954T>G (p.Phe985Cys)
|
rs1572729394
|
|
|
NM_000179.3(MSH6):c.2955C>G (p.Phe985Leu)
|
rs63750942
|
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
|
|
NM_000179.3(MSH6):c.2957C>A (p.Thr986Asn)
|
|
|
|
NM_000179.3(MSH6):c.2957C>G (p.Thr986Ser)
|
rs1558667371
|
|
|
NM_000179.3(MSH6):c.2959A>C (p.Thr987Pro)
|
rs746631156
|
|
|
NM_000179.3(MSH6):c.2960C>G (p.Thr987Ser)
|
rs587779928
|
|
|
NM_000179.3(MSH6):c.2962C>A (p.Arg988Ser)
|
rs61753795
|
|
|
NM_000179.3(MSH6):c.2962C>G (p.Arg988Gly)
|
rs61753795
|
|
|
NM_000179.3(MSH6):c.2963G>A (p.Arg988His)
|
rs115386788
|
|
|
NM_000179.3(MSH6):c.2963G>C (p.Arg988Pro)
|
rs115386788
|
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
|
NM_000179.3(MSH6):c.2965A>C (p.Asn989His)
|
rs1669533426
|
|
|
NM_000179.3(MSH6):c.2965A>T (p.Asn989Tyr)
|
rs1669533426
|
|
|
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile)
|
rs763146296
|
|
|
NM_000179.3(MSH6):c.2968T>A (p.Leu990Met)
|
|
|
|
NM_000179.3(MSH6):c.2968T>G (p.Leu990Val)
|
rs1178799836
|
|
|
NM_000179.3(MSH6):c.2970G>C (p.Leu990Phe)
|
rs1553414353
|
|
|
NM_000179.3(MSH6):c.2971C>T (p.Pro991Ser)
|
rs764249869
|
|
|
NM_000179.3(MSH6):c.2974GAA[1] (p.Glu993del)
|
|
|
|
NM_000179.3(MSH6):c.2975A>G (p.Glu992Gly)
|
rs876660688
|
|
|
NM_000179.3(MSH6):c.2976A>C (p.Glu992Asp)
|
rs761938225
|
|
|
NM_000179.3(MSH6):c.2977G>A (p.Glu993Lys)
|
|
|
|
NM_000179.3(MSH6):c.2979A>T (p.Glu993Asp)
|
rs370462886
|
|
|
NM_000179.3(MSH6):c.2980T>G (p.Tyr994Asp)
|
rs373622047
|
|
|
NM_000179.3(MSH6):c.2983G>A (p.Glu995Lys)
|
rs63750258
|
|
|
NM_000179.3(MSH6):c.2983G>C (p.Glu995Gln)
|
rs63750258
|
|
|
NM_000179.3(MSH6):c.2989A>G (p.Lys997Glu)
|
rs1064794943
|
|
|
NM_000179.3(MSH6):c.2990A>G (p.Lys997Arg)
|
rs587780674
|
|
|
NM_000179.3(MSH6):c.2992T>C (p.Ser998Pro)
|
rs730881800
|
|
|
NM_000179.3(MSH6):c.2993C>G (p.Ser998Cys)
|
rs1281207200
|
|
|
NM_000179.3(MSH6):c.2993C>T (p.Ser998Phe)
|
rs1281207200
|
|
|
NM_000179.3(MSH6):c.2996C>T (p.Thr999Ile)
|
|
|
|
NM_000179.3(MSH6):c.299T>C (p.Met100Thr)
|
|
|
|
NM_000179.3(MSH6):c.3002A>G (p.Lys1001Arg)
|
rs876659485
|
|
|
NM_000179.3(MSH6):c.3003G>C (p.Lys1001Asn)
|
rs1669537777
|
|
|
NM_000179.3(MSH6):c.3004G>A (p.Gly1002Ser)
|
rs587782491
|
|
|
NM_000179.3(MSH6):c.3005G>A (p.Gly1002Asp)
|
rs1064794070
|
|
|
NM_000179.3(MSH6):c.3005G>T (p.Gly1002Val)
|
rs1064794070
|
|
|
NM_000179.3(MSH6):c.3007T>C (p.Cys1003Arg)
|
|
|
|
NM_000179.3(MSH6):c.3008G>C (p.Cys1003Ser)
|
|
|
|
NM_000179.3(MSH6):c.3008G>T (p.Cys1003Phe)
|
rs1558667696
|
|
|
NM_000179.3(MSH6):c.300G>A (p.Met100Ile)
|
rs1572708607
|
|
|
NM_000179.3(MSH6):c.3010A>G (p.Lys1004Glu)
|
rs1558667702
|
|
|
NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)
|
rs587782324
|
|
|
NM_000179.3(MSH6):c.3016T>C (p.Tyr1006His)
|
|
|
|
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg)
|
rs1553414398
|
|
|
NM_000179.3(MSH6):c.3019T>G (p.Trp1007Gly)
|
rs1553414398
|
|
|
NM_000179.3(MSH6):c.301G>A (p.Glu101Lys)
|
|
|
|
NM_000179.3(MSH6):c.3022A>C (p.Thr1008Pro)
|
|
|
|
NM_000179.3(MSH6):c.3022A>T (p.Thr1008Ser)
|
|
|
|
NM_000179.3(MSH6):c.3023C>A (p.Thr1008Asn)
|
|
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
|
NM_000179.3(MSH6):c.3026A>C (p.Lys1009Thr)
|
rs587781593
|
|
|
NM_000179.3(MSH6):c.3026A>G (p.Lys1009Arg)
|
rs587781593
|
|
|
NM_000179.3(MSH6):c.3028A>T (p.Thr1010Ser)
|
rs1553414407
|
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
|
NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)
|
rs768925694
|
|
|
NM_000179.3(MSH6):c.3031A>G (p.Ile1011Val)
|
rs1553414415
|
|
|
NM_000179.3(MSH6):c.3032T>C (p.Ile1011Thr)
|
rs1387534158
|
|
|
NM_000179.3(MSH6):c.3033T>G (p.Ile1011Met)
|
rs1572729809
|
|
|
NM_000179.3(MSH6):c.3035A>T (p.Glu1012Val)
|
rs2104437159
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
|
NM_000179.3(MSH6):c.3038A>C (p.Lys1013Thr)
|
rs200837944
|
|
|
NM_000179.3(MSH6):c.3038A>G (p.Lys1013Arg)
|
rs200837944
|
|
|
NM_000179.3(MSH6):c.3039G>T (p.Lys1013Asn)
|
rs1060502920
|
|
|
NM_000179.3(MSH6):c.303G>C (p.Glu101Asp)
|
rs1057521533
|
|
|
NM_000179.3(MSH6):c.3043T>G (p.Leu1015Val)
|
rs1572729847
|
|
|
NM_000179.3(MSH6):c.3047C>T (p.Ala1016Val)
|
rs587779929
|
|
|
NM_000179.3(MSH6):c.3049A>C (p.Asn1017His)
|
rs1060502943
|
|
|
NM_000179.3(MSH6):c.3049A>T (p.Asn1017Tyr)
|
rs1060502943
|
|
|
NM_000179.3(MSH6):c.3050A>G (p.Asn1017Ser)
|
|
|
|
NM_000179.3(MSH6):c.3052C>A (p.Leu1018Ile)
|
rs878853727
|
|
|
NM_000179.3(MSH6):c.3052C>G (p.Leu1018Val)
|
rs878853727
|
|
|
NM_000179.3(MSH6):c.3056T>C (p.Ile1019Thr)
|
|
|
|
NM_000179.3(MSH6):c.3058A>C (p.Asn1020His)
|
rs1553414438
|
|
|
NM_000179.3(MSH6):c.3058A>G (p.Asn1020Asp)
|
rs1553414438
|
|
|
NM_000179.3(MSH6):c.3059A>G (p.Asn1020Ser)
|
rs1669544206
|
|
|
NM_000179.3(MSH6):c.305G>T (p.Gly102Val)
|
|
|
|
NM_000179.3(MSH6):c.3061G>A (p.Ala1021Thr)
|
rs2104438316
|
|
|
NM_000179.3(MSH6):c.3065A>C (p.Glu1022Ala)
|
|
|
|
NM_000179.3(MSH6):c.3067G>C (p.Glu1023Gln)
|
|
|
|
NM_000179.3(MSH6):c.3068A>C (p.Glu1023Ala)
|
rs1553414454
|
|
|
NM_000179.3(MSH6):c.3068A>G (p.Glu1023Gly)
|
rs1553414454
|
|
|
NM_000179.3(MSH6):c.3070C>G (p.Arg1024Gly)
|
rs370505117
|
|
|
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)
|
rs370505117
|
|
|
NM_000179.3(MSH6):c.3071G>C (p.Arg1024Pro)
|
rs372705506
|
|
|
NM_000179.3(MSH6):c.3076G>T (p.Asp1026Tyr)
|
rs267608054
|
|
|
NM_000179.3(MSH6):c.3079G>A (p.Val1027Ile)
|
rs876658397
|
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
|
NM_000179.3(MSH6):c.3080T>C (p.Val1027Ala)
|
rs1553414471
|
|
|
NM_000179.3(MSH6):c.3080T>G (p.Val1027Gly)
|
rs1553414471
|
|
|
NM_000179.3(MSH6):c.3082T>C (p.Ser1028Pro)
|
rs1572730033
|
|
|
NM_000179.3(MSH6):c.3083C>T (p.Ser1028Leu)
|
rs876660853
|
|
|
NM_000179.3(MSH6):c.3083_3085del (p.Ser1028del)
|
|
|
|
NM_000179.3(MSH6):c.3086T>G (p.Leu1029Trp)
|
rs1553414483
|
|
|
NM_000179.3(MSH6):c.3091G>C (p.Asp1031His)
|
|
|
|
NM_000179.3(MSH6):c.3093C>G (p.Asp1031Glu)
|
|
|
|
NM_000179.3(MSH6):c.3094T>A (p.Cys1032Ser)
|
rs1572730085
|
|
|
NM_000179.3(MSH6):c.3097A>G (p.Met1033Val)
|
rs1553414508
|
|
|
NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys)
|
rs751035257
|
|
|
NM_000179.3(MSH6):c.3098T>C (p.Met1033Thr)
|
rs751035257
|
|
|
NM_000179.3(MSH6):c.30C>A (p.Phe10Leu)
|
rs786201869
|
|
|
NM_000179.3(MSH6):c.3100C>G (p.Arg1034Gly)
|
rs587779930
|
|
|
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln)
|
rs181727939
|
|
|
NM_000179.3(MSH6):c.3101G>C (p.Arg1034Pro)
|
rs181727939
|
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3104G>C (p.Arg1035Pro)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3106C>G (p.Leu1036Val)
|
rs1558668117
|
|
|
NM_000179.3(MSH6):c.3109T>C (p.Phe1037Leu)
|
rs1669550051
|
|
|
NM_000179.3(MSH6):c.310C>T (p.Pro104Ser)
|
rs1558651940
|
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
|
NM_000179.3(MSH6):c.3111_3112delinsGA (p.Phe1037_Tyr1038delinsLeuAsn)
|
rs1572730191
|
|
|
NM_000179.3(MSH6):c.3112T>G (p.Tyr1038Asp)
|
rs1060502947
|
|
|
NM_000179.3(MSH6):c.3117C>A (p.Asn1039Lys)
|
|
|
|
NM_000179.3(MSH6):c.3117C>G (p.Asn1039Lys)
|
rs1553414533
|
|
|
NM_000179.3(MSH6):c.3119T>A (p.Phe1040Tyr)
|
|
|
|
NM_000179.3(MSH6):c.3119T>C (p.Phe1040Ser)
|
rs2104441260
|
|
|
NM_000179.3(MSH6):c.311C>T (p.Pro104Leu)
|
rs1572708628
|
|
|
NM_000179.3(MSH6):c.3121G>A (p.Asp1041Asn)
|
rs2104441362
|
|
|
NM_000179.3(MSH6):c.3123T>A (p.Asp1041Glu)
|
rs1669551961
|
|
|
NM_000179.3(MSH6):c.3125A>C (p.Lys1042Thr)
|
rs2104441513
|
|
|
NM_000179.3(MSH6):c.3125A>G (p.Lys1042Arg)
|
|
|
|
NM_000179.3(MSH6):c.3128A>G (p.Asn1043Ser)
|
rs1558668226
|
|
|
NM_000179.3(MSH6):c.3128A>T (p.Asn1043Ile)
|
rs1558668226
|
|
|
NM_000179.3(MSH6):c.3130T>C (p.Tyr1044His)
|
|
|
|
NM_000179.3(MSH6):c.3130T>G (p.Tyr1044Asp)
|
rs1346694568
|
|
|
NM_000179.3(MSH6):c.3131A>C (p.Tyr1044Ser)
|
rs1553414541
|
|
|
NM_000179.3(MSH6):c.3131A>G (p.Tyr1044Cys)
|
rs1553414541
|
|
|
NM_000179.3(MSH6):c.3131A>T (p.Tyr1044Phe)
|
rs1553414541
|
|
|
NM_000179.3(MSH6):c.3133A>G (p.Lys1045Glu)
|
rs2104441885
|
|
|
NM_000179.3(MSH6):c.3133_3138del (p.Lys1045_Asp1046del)
|
rs2104441817
|
|
|
NM_000179.3(MSH6):c.3134A>C (p.Lys1045Thr)
|
rs1669552904
|
|
|
NM_000179.3(MSH6):c.3136G>A (p.Asp1046Asn)
|
rs2104442043
|
|
|
NM_000179.3(MSH6):c.3136G>T (p.Asp1046Tyr)
|
rs2104442043
|
|
|
NM_000179.3(MSH6):c.3137A>G (p.Asp1046Gly)
|
rs587779931
|
|
|
NM_000179.3(MSH6):c.3138C>G (p.Asp1046Glu)
|
rs1244049824
|
|
|
NM_000179.3(MSH6):c.3139T>C (p.Trp1047Arg)
|
rs1114167753
|
|
|
NM_000179.3(MSH6):c.3140G>T (p.Trp1047Leu)
|
rs1064794302
|
|
|
NM_000179.3(MSH6):c.3141G>C (p.Trp1047Cys)
|
rs1553414554
|
|
|
NM_000179.3(MSH6):c.3143A>G (p.Gln1048Arg)
|
rs1572730351
|
|
|
NM_000179.3(MSH6):c.3144G>C (p.Gln1048His)
|
|
|
|
NM_000179.3(MSH6):c.3146C>G (p.Ser1049Cys)
|
rs1395294066
|
|
|
NM_000179.3(MSH6):c.3146C>T (p.Ser1049Phe)
|
|
|
|
NM_000179.3(MSH6):c.3148G>A (p.Ala1050Thr)
|
rs1572730375
|
|
|
NM_000179.3(MSH6):c.3148G>C (p.Ala1050Pro)
|
rs1572730375
|
|
|
NM_000179.3(MSH6):c.3148G>T (p.Ala1050Ser)
|
rs1572730375
|
|
|
NM_000179.3(MSH6):c.3149C>T (p.Ala1050Val)
|
rs1114167732
|
|
|
NM_000179.3(MSH6):c.314G>C (p.Trp105Ser)
|
rs1558651950
|
|
|
NM_000179.3(MSH6):c.314G>T (p.Trp105Leu)
|
|
|
|
NM_000179.3(MSH6):c.3150_3161dup (p.Val1051_Ile1054dup)
|
rs1669556009
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3151G>C (p.Val1051Leu)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
|
NM_000179.3(MSH6):c.3154G>A (p.Glu1052Lys)
|
rs765763906
|
|
|
NM_000179.3(MSH6):c.3154G>C (p.Glu1052Gln)
|
rs765763906
|
|
|
NM_000179.3(MSH6):c.3155A>C (p.Glu1052Ala)
|
|
|
|
NM_000179.3(MSH6):c.3157T>C (p.Cys1053Arg)
|
rs2104443174
|
|
|
NM_000179.3(MSH6):c.3158G>A (p.Cys1053Tyr)
|
rs1553414572
|
|
|
NM_000179.3(MSH6):c.3158G>C (p.Cys1053Ser)
|
|
|
|
NM_000179.3(MSH6):c.315G>C (p.Trp105Cys)
|
|
|
|
NM_000179.3(MSH6):c.315G>T (p.Trp105Cys)
|
rs1060502902
|
|
|
NM_000179.3(MSH6):c.3160A>G (p.Ile1054Val)
|
rs267608075
|
|
|
NM_000179.3(MSH6):c.3161_3163del (p.Ile1054_Ala1055delinsThr)
|
|
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
|
NM_000179.3(MSH6):c.3166G>T (p.Val1056Leu)
|
|
|
|
NM_000179.3(MSH6):c.3170T>G (p.Leu1057Trp)
|
rs778741297
|
|
|
NM_000179.3(MSH6):c.3172+4A>G
|
|
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
|
NM_000179.3(MSH6):c.3173-12_3173-9del
|
|
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
|
NM_000179.3(MSH6):c.3173-3C>T
|
|
|
|
NM_000179.3(MSH6):c.3173-3del
|
|
|
|
NM_000179.3(MSH6):c.3173A>G (p.Asp1058Gly)
|
rs1558386744
|
|
|
NM_000179.3(MSH6):c.3173A>T (p.Asp1058Val)
|
rs1558386744
|
|
|
NM_000179.3(MSH6):c.3175G>A (p.Val1059Ile)
|
rs1249506770
|
|
|
NM_000179.3(MSH6):c.3175G>C (p.Val1059Leu)
|
|
|
|
NM_000179.3(MSH6):c.3179T>C (p.Leu1060Ser)
|
|
|
|
NM_000179.3(MSH6):c.3180A>C (p.Leu1060Phe)
|
rs1553331248
|
|
|
NM_000179.3(MSH6):c.3182T>C (p.Leu1061Pro)
|
|
|
|
NM_000179.3(MSH6):c.3182T>G (p.Leu1061Arg)
|
rs1669730426
|
|
|
NM_000179.3(MSH6):c.3184T>C (p.Cys1062Arg)
|
|
|
|
NM_000179.3(MSH6):c.318G>T (p.Trp106Cys)
|
rs1572708652
|
|
|
NM_000179.3(MSH6):c.3190G>A (p.Ala1064Thr)
|
rs587782492
|
|
|
NM_000179.3(MSH6):c.3190G>C (p.Ala1064Pro)
|
rs587782492
|
|
|
NM_000179.3(MSH6):c.3194A>G (p.Asn1065Ser)
|
|
|
|
NM_000179.3(MSH6):c.3195C>G (p.Asn1065Lys)
|
rs759260316
|
|
|
NM_000179.3(MSH6):c.3199A>G (p.Ser1067Gly)
|
rs1669732743
|
|
|
NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del)
|
rs1064792972
|
|
|
NM_000179.3(MSH6):c.319C>G (p.Pro107Ala)
|
|
|
|
NM_000179.3(MSH6):c.3200G>A (p.Ser1067Asn)
|
|
|
|
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr)
|
rs730881803
|
|
|
NM_000179.3(MSH6):c.3200G>T (p.Ser1067Ile)
|
rs730881803
|
|
|
NM_000179.3(MSH6):c.3202C>G (p.Arg1068Gly)
|
rs63749843
|
|
|
NM_000179.3(MSH6):c.3203G>C (p.Arg1068Pro)
|
rs398123230
|
|
|
NM_000179.3(MSH6):c.3203G>T (p.Arg1068Leu)
|
rs398123230
|
|
|
NM_000179.3(MSH6):c.3205G>A (p.Gly1069Arg)
|
rs764113705
|
|
|
NM_000179.3(MSH6):c.3206G>C (p.Gly1069Ala)
|
rs63750784
|
|
|
NM_000179.3(MSH6):c.3209G>T (p.Gly1070Val)
|
rs751475855
|
|
|
NM_000179.3(MSH6):c.320C>T (p.Pro107Leu)
|
rs878853732
|
|
|
NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser)
|
rs1558386938
|
|
|
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)
|
rs781243845
|
|
|
NM_000179.3(MSH6):c.3217C>A (p.Pro1073Thr)
|
rs142254875
|
|
|
NM_000179.3(MSH6):c.3220A>C (p.Met1074Leu)
|
rs730881804
|
|
|
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)
|
rs730881804
|
|
|
NM_000179.3(MSH6):c.3223T>C (p.Cys1075Arg)
|
|
|
|
NM_000179.3(MSH6):c.3223T>G (p.Cys1075Gly)
|
rs1553331300
|
|
|
NM_000179.3(MSH6):c.3224G>A (p.Cys1075Tyr)
|
rs2104474174
|
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
|
NM_000179.3(MSH6):c.3228_3229insAGC (p.Arg1076_Pro1077insSer)
|
|
|
|
NM_000179.3(MSH6):c.3229C>A (p.Pro1077Thr)
|
rs1669737200
|
|
|
NM_000179.3(MSH6):c.3229C>T (p.Pro1077Ser)
|
|
|
|
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)
|
rs1668689651
|
|
|
NM_000179.3(MSH6):c.3230C>A (p.Pro1077Gln)
|
rs876659824
|
|
|
NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu)
|
rs587779933
|
|
|
NM_000179.3(MSH6):c.3236T>C (p.Ile1079Thr)
|
rs2104474781
|
|
|
NM_000179.3(MSH6):c.3238C>A (p.Leu1080Met)
|
rs1553331335
|
|
|
NM_000179.3(MSH6):c.3239T>C (p.Leu1080Pro)
|
|
|
|
NM_000179.3(MSH6):c.323G>A (p.Cys108Tyr)
|
rs1572708660
|
|
|
NM_000179.3(MSH6):c.323G>C (p.Cys108Ser)
|
rs1572708660
|
|
|
NM_000179.3(MSH6):c.323G>T (p.Cys108Phe)
|
|
|
|
NM_000179.3(MSH6):c.3243G>C (p.Leu1081Phe)
|
rs1553331352
|
|
|
NM_000179.3(MSH6):c.3244C>A (p.Pro1082Thr)
|
rs186240214
|
|
|
NM_000179.3(MSH6):c.3245C>A (p.Pro1082Gln)
|
rs191109849
|
|
|
NM_000179.3(MSH6):c.3245C>G (p.Pro1082Arg)
|
rs191109849
|
|
|
NM_000179.3(MSH6):c.3247G>A (p.Glu1083Lys)
|
|
|
|
NM_000179.3(MSH6):c.3248A>G (p.Glu1083Gly)
|
rs1064796068
|
|
|
NM_000179.3(MSH6):c.3250G>C (p.Asp1084His)
|
|
|
|
NM_000179.3(MSH6):c.3250G>T (p.Asp1084Tyr)
|
|
|
|
NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly)
|
rs1553331364
|
|
|
NM_000179.3(MSH6):c.3253_3254delinsTA (p.Thr1085Tyr)
|
|
|
|
NM_000179.3(MSH6):c.3254C>G (p.Thr1085Ser)
|
rs761724581
|
|
|
NM_000179.3(MSH6):c.3254C>T (p.Thr1085Ile)
|
rs761724581
|
|
|
NM_000179.3(MSH6):c.3256C>A (p.Pro1086Thr)
|
rs756108143
|
|
|
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala)
|
rs756108143
|
|
|
NM_000179.3(MSH6):c.3256C>T (p.Pro1086Ser)
|
rs756108143
|
|
|
NM_000179.3(MSH6):c.3257C>A (p.Pro1086His)
|
rs780345806
|
|
|
NM_000179.3(MSH6):c.3257C>G (p.Pro1086Arg)
|
rs780345806
|
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259_3261del (p.Pro1087del)
|
|
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3261CTT[1] (p.Phe1088del)
|
rs1060502917
|
|
|
NM_000179.3(MSH6):c.3262T>A (p.Phe1088Ile)
|
|
|
|
NM_000179.3(MSH6):c.3262T>C (p.Phe1088Leu)
|
rs866793892
|
|
|
NM_000179.3(MSH6):c.3263T>A (p.Phe1088Tyr)
|
rs775248712
|
|
|
NM_000179.3(MSH6):c.3264C>G (p.Phe1088Leu)
|
rs35621414
|
|
|
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)
|
rs1669748364
|
|
|
NM_000179.3(MSH6):c.3267A>C (p.Leu1089Phe)
|
rs1303047277
|
|
|
NM_000179.3(MSH6):c.3268G>A (p.Glu1090Lys)
|
rs143477948
|
|
|
NM_000179.3(MSH6):c.3268G>C (p.Glu1090Gln)
|
rs143477948
|
|
|
NM_000179.3(MSH6):c.3269A>C (p.Glu1090Ala)
|
rs1669749043
|
|
|
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)
|
rs876660165
|
|
|
NM_000179.3(MSH6):c.3271C>T (p.Leu1091Phe)
|
rs1060502914
|
|
|
NM_000179.3(MSH6):c.3272T>G (p.Leu1091Arg)
|
rs864622637
|
|
|
NM_000179.3(MSH6):c.3274A>C (p.Lys1092Gln)
|
rs967439058
|
|
|
NM_000179.3(MSH6):c.3276A>C (p.Lys1092Asn)
|
rs1572735435
|
|
|
NM_000179.3(MSH6):c.3278G>C (p.Gly1093Ala)
|
rs876661048
|
|
|
NM_000179.3(MSH6):c.3278G>T (p.Gly1093Val)
|
rs876661048
|
|
|
NM_000179.3(MSH6):c.327G>A (p.Leu109=)
|
rs1668689995
|
|
|
NM_000179.3(MSH6):c.3280T>G (p.Ser1094Ala)
|
rs876658945
|
|
|
NM_000179.3(MSH6):c.3283C>A (p.Arg1095Ser)
|
rs376243329
|
|
|
NM_000179.3(MSH6):c.3286C>T (p.His1096Tyr)
|
rs1553331471
|
|
|
NM_000179.3(MSH6):c.3289C>T (p.Pro1097Ser)
|
|
|
|
NM_000179.3(MSH6):c.328G>A (p.Val110Ile)
|
rs876659374
|
|
|
NM_000179.3(MSH6):c.328G>C (p.Val110Leu)
|
|
|
|
NM_000179.3(MSH6):c.3292T>A (p.Cys1098Ser)
|
rs1553331482
|
|
|
NM_000179.3(MSH6):c.3292T>C (p.Cys1098Arg)
|
|
|
|
NM_000179.3(MSH6):c.3293G>A (p.Cys1098Tyr)
|
rs876660564
|
|
|
NM_000179.3(MSH6):c.3293G>C (p.Cys1098Ser)
|
rs876660564
|
|
|
NM_000179.3(MSH6):c.3293_3294delinsTT (p.Cys1098Phe)
|
rs1572735512
|
|
|
NM_000179.3(MSH6):c.3295A>G (p.Ile1099Val)
|
rs1064795895
|
|
|
NM_000179.3(MSH6):c.3296T>C (p.Ile1099Thr)
|
rs1553331494
|
|
|
NM_000179.3(MSH6):c.3299C>G (p.Thr1100Arg)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.3303G>C (p.Lys1101Asn)
|
|
|
|
NM_000179.3(MSH6):c.3304A>G (p.Thr1102Ala)
|
rs758782048
|
|
|
NM_000179.3(MSH6):c.3307T>C (p.Phe1103Leu)
|
rs1553331522
|
|
|
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val)
|
rs1553331522
|
|
|
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys)
|
rs1553331529
|
|
|
NM_000179.3(MSH6):c.3311T>C (p.Phe1104Ser)
|
rs1553331534
|
|
|
NM_000179.3(MSH6):c.3311T>G (p.Phe1104Cys)
|
|
|
|
NM_000179.3(MSH6):c.3313G>C (p.Gly1105Arg)
|
|
|
|
NM_000179.3(MSH6):c.3314G>C (p.Gly1105Ala)
|
rs1060502910
|
|
|
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val)
|
rs1060502910
|
|
|
NM_000179.3(MSH6):c.3316G>A (p.Asp1106Asn)
|
|
|
|
NM_000179.3(MSH6):c.3316G>C (p.Asp1106His)
|
rs1553331552
|
|
|
NM_000179.3(MSH6):c.3316GAT[1] (p.Asp1107del)
|
rs1064795429
|
|
|
NM_000179.3(MSH6):c.3317A>G (p.Asp1106Gly)
|
rs1189795764
|
|
|
NM_000179.3(MSH6):c.3318T>A (p.Asp1106Glu)
|
|
|
|
NM_000179.3(MSH6):c.3319G>T (p.Asp1107Tyr)
|
|
|
|
NM_000179.3(MSH6):c.331T>C (p.Tyr111His)
|
rs1668690176
|
|
|
NM_000179.3(MSH6):c.3320A>C (p.Asp1107Ala)
|
rs1669757838
|
|
|
NM_000179.3(MSH6):c.3322T>A (p.Phe1108Ile)
|
rs2104480101
|
|
|
NM_000179.3(MSH6):c.3325A>C (p.Ile1109Leu)
|
rs1669758701
|
|
|
NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)
|
rs374070511
|
|
|
NM_000179.3(MSH6):c.3328C>G (p.Pro1110Ala)
|
rs374070511
|
|
|
NM_000179.3(MSH6):c.3328C>T (p.Pro1110Ser)
|
rs374070511
|
|
|
NM_000179.3(MSH6):c.332A>G (p.Tyr111Cys)
|
rs1668690263
|
|
|
NM_000179.3(MSH6):c.3331A>C (p.Asn1111His)
|
rs1553331582
|
|
|
NM_000179.3(MSH6):c.3335A>T (p.Asp1112Val)
|
rs1165839059
|
|
|
NM_000179.3(MSH6):c.3337A>G (p.Ile1113Val)
|
rs876658315
|
|
|
NM_000179.3(MSH6):c.3338T>G (p.Ile1113Ser)
|
rs41295272
|
|
|
NM_000179.3(MSH6):c.3340C>A (p.Leu1114Ile)
|
rs1064793520
|
|
|
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)
|
rs1553331600
|
|
|
NM_000179.3(MSH6):c.3343A>G (p.Ile1115Val)
|
rs1572735738
|
|
|
NM_000179.3(MSH6):c.3344T>C (p.Ile1115Thr)
|
rs747959862
|
|
|
NM_000179.3(MSH6):c.3345A>G (p.Ile1115Met)
|
rs1669762062
|
|
|
NM_000179.3(MSH6):c.3346G>A (p.Gly1116Ser)
|
rs1114167775
|
|
|
NM_000179.3(MSH6):c.3349T>A (p.Cys1117Ser)
|
|
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
|
NM_000179.3(MSH6):c.3350G>A (p.Cys1117Tyr)
|
rs773245315
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3356A>G (p.Glu1119Gly)
|
rs876661138
|
|
|
NM_000179.3(MSH6):c.3358G>C (p.Glu1120Gln)
|
rs1114167793
|
|
|
NM_000179.3(MSH6):c.3359A>C (p.Glu1120Ala)
|
rs1669764840
|
|
|
NM_000179.3(MSH6):c.3359A>T (p.Glu1120Val)
|
rs1669764840
|
|
|
NM_000179.3(MSH6):c.335A>C (p.Asn112Thr)
|
rs587779934
|
|
|
NM_000179.3(MSH6):c.3360G>C (p.Glu1120Asp)
|
rs146737457
|
|
|
NM_000179.3(MSH6):c.3361G>A (p.Glu1121Lys)
|
rs587781609
|
|
|
NM_000179.3(MSH6):c.3361_3362delinsAG (p.Glu1121Arg)
|
rs1669765454
|
|
|
NM_000179.3(MSH6):c.3362A>T (p.Glu1121Val)
|
rs776589986
|
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
|
NM_000179.3(MSH6):c.3365A>C (p.Gln1122Pro)
|
rs1572735859
|
|
|
NM_000179.3(MSH6):c.3367G>C (p.Glu1123Gln)
|
rs267608086
|
|
|
NM_000179.3(MSH6):c.3370A>G (p.Asn1124Asp)
|
rs1443258363
|
|
|
NM_000179.3(MSH6):c.3370A>T (p.Asn1124Tyr)
|
rs1443258363
|
|
|
NM_000179.3(MSH6):c.3374G>A (p.Gly1125Asp)
|
rs1572735887
|
|
|
NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)
|
rs765577023
|
|
|
NM_000179.3(MSH6):c.3376A>G (p.Lys1126Glu)
|
rs2104483165
|
|
|
NM_000179.3(MSH6):c.3377A>C (p.Lys1126Thr)
|
rs766608409
|
|
|
NM_000179.3(MSH6):c.337C>T (p.His113Tyr)
|
rs1572708687
|
|
|
NM_000179.3(MSH6):c.3380C>G (p.Ala1127Gly)
|
rs1572735927
|
|
|
NM_000179.3(MSH6):c.3380C>T (p.Ala1127Val)
|
rs1572735927
|
|
|
NM_000179.3(MSH6):c.3382T>C (p.Tyr1128His)
|
rs2104483544
|
|
|
NM_000179.3(MSH6):c.3383A>C (p.Tyr1128Ser)
|
|
|
|
NM_000179.3(MSH6):c.3383A>T (p.Tyr1128Phe)
|
rs587779261
|
|
|
NM_000179.3(MSH6):c.3385T>C (p.Cys1129Arg)
|
rs1060502905
|
|
|
NM_000179.3(MSH6):c.3386G>A (p.Cys1129Tyr)
|
|
|
|
NM_000179.3(MSH6):c.3387T>G (p.Cys1129Trp)
|
rs2104483879
|
|
|
NM_000179.3(MSH6):c.3388G>A (p.Val1130Met)
|
rs752164796
|
|
|
NM_000179.3(MSH6):c.3388G>T (p.Val1130Leu)
|
rs752164796
|
|
|
NM_000179.3(MSH6):c.3389T>A (p.Val1130Glu)
|
rs1669769129
|
|
|
NM_000179.3(MSH6):c.338A>T (p.His113Leu)
|
rs2104103351
|
|
|
NM_000179.3(MSH6):c.3391C>T (p.Leu1131Phe)
|
rs1572735989
|
|
|
NM_000179.3(MSH6):c.3394G>A (p.Val1132Ile)
|
rs781676597
|
|
|
NM_000179.3(MSH6):c.3394G>T (p.Val1132Phe)
|
rs781676597
|
|
|
NM_000179.3(MSH6):c.3395T>C (p.Val1132Ala)
|
rs1114167711
|
|
|
NM_000179.3(MSH6):c.3397A>C (p.Thr1133Pro)
|
rs2104484455
|
|
|
NM_000179.3(MSH6):c.3397A>G (p.Thr1133Ala)
|
rs2104484455
|
|
|
NM_000179.3(MSH6):c.3398C>G (p.Thr1133Ser)
|
rs730881805
|
|
|
NM_000179.3(MSH6):c.339C>G (p.His113Gln)
|
rs886056141
|
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
|
NM_000179.3(MSH6):c.3400G>A (p.Gly1134Arg)
|
rs1114167697
|
|
|
NM_000179.3(MSH6):c.3401G>A (p.Gly1134Glu)
|
rs1376398586
|
|
|
NM_000179.3(MSH6):c.3401G>C (p.Gly1134Ala)
|
rs1376398586
|
|
|
NM_000179.3(MSH6):c.3403C>A (p.Pro1135Thr)
|
rs1553331733
|
|
|
NM_000179.3(MSH6):c.3403C>G (p.Pro1135Ala)
|
rs1553331733
|
|
|
NM_000179.3(MSH6):c.3406A>C (p.Asn1136His)
|
|
|
|
NM_000179.3(MSH6):c.3406A>G (p.Asn1136Asp)
|
rs2104485048
|
|
|
NM_000179.3(MSH6):c.3409A>G (p.Met1137Val)
|
rs1558387808
|
|
|
NM_000179.3(MSH6):c.3409_3411del (p.Met1137del)
|
|
|
|
NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr)
|
rs1553331742
|
|
|
NM_000179.3(MSH6):c.3410_3418del (p.Met1137_Gly1139del)
|
rs1553331738
|
|
|
NM_000179.3(MSH6):c.3412G>A (p.Gly1138Arg)
|
rs1572736091
|
|
|
NM_000179.3(MSH6):c.3415G>T (p.Gly1139Cys)
|
rs63751063
|
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
|
NM_000179.3(MSH6):c.3419A>G (p.Lys1140Arg)
|
|
|
|
NM_000179.3(MSH6):c.341C>G (p.Pro114Arg)
|
rs863224626
|
|
|
NM_000179.3(MSH6):c.3421T>C (p.Ser1141Pro)
|
rs1669772948
|
|
|
NM_000179.3(MSH6):c.3422C>G (p.Ser1141Cys)
|
rs1669773070
|
|
|
NM_000179.3(MSH6):c.3427C>A (p.Leu1143Ile)
|
|
|
|
NM_000179.3(MSH6):c.3427C>T (p.Leu1143Phe)
|
rs1236342555
|
|
|
NM_000179.3(MSH6):c.3429_3431del (p.Met1144del)
|
rs1669773824
|
|
|
NM_000179.3(MSH6):c.3430A>T (p.Met1144Leu)
|
rs771925339
|
|
|
NM_000179.3(MSH6):c.3431T>C (p.Met1144Thr)
|
|
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
|
NM_000179.3(MSH6):c.3432G>A (p.Met1144Ile)
|
|
|
|
NM_000179.3(MSH6):c.3434G>A (p.Arg1145Lys)
|
rs1553331777
|
|
|
NM_000179.3(MSH6):c.3437A>C (p.Gln1146Pro)
|
rs587779262
|
|
|
NM_000179.3(MSH6):c.3437A>G (p.Gln1146Arg)
|
rs587779262
|
|
|
NM_000179.3(MSH6):c.3438+19_3438+34del
|
|
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
|
NM_000179.3(MSH6):c.3438+5C>A
|
rs777420424
|
|
|
NM_000179.3(MSH6):c.3438+5C>G
|
rs777420424
|
|
|
NM_000179.3(MSH6):c.3438+5C>T
|
rs777420424
|
|
|
NM_000179.3(MSH6):c.3439-14_3439-13inv
|
|
|
|
NM_000179.3(MSH6):c.3439-3C>G
|
|
|
|
NM_000179.3(MSH6):c.3439-7T>G
|
rs863224622
|
|
|
NM_000179.3(MSH6):c.3439G>C (p.Ala1147Pro)
|
rs770054790
|
|
|
NM_000179.3(MSH6):c.3440C>A (p.Ala1147Asp)
|
rs876659975
|
|
|
NM_000179.3(MSH6):c.3440C>G (p.Ala1147Gly)
|
rs876659975
|
|
|
NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)
|
rs63750257
|
|
|
NM_000179.3(MSH6):c.3443G>A (p.Gly1148Asp)
|
rs763058648
|
|
|
NM_000179.3(MSH6):c.3445T>A (p.Leu1149Ile)
|
rs878853735
|
|
|
NM_000179.3(MSH6):c.3448T>G (p.Leu1150Val)
|
rs774584492
|
|
|
NM_000179.3(MSH6):c.3449T>C (p.Leu1150Ser)
|
rs1057517763
|
|
|
NM_000179.3(MSH6):c.344T>C (p.Phe115Ser)
|
rs781271765
|
|
|
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)
|
rs762134820
|
|
|
NM_000179.3(MSH6):c.3452C>T (p.Ala1151Val)
|
rs587782625
|
|
|
NM_000179.3(MSH6):c.3454G>A (p.Val1152Ile)
|
rs1572738396
|
|
|
NM_000179.3(MSH6):c.3459G>A (p.Met1153Ile)
|
rs1553332160
|
|
|
NM_000179.3(MSH6):c.3460G>C (p.Ala1154Pro)
|
rs1572738413
|
|
|
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp)
|
rs786202842
|
|
|
NM_000179.3(MSH6):c.3461C>T (p.Ala1154Val)
|
|
|
|
NM_000179.3(MSH6):c.3465G>C (p.Gln1155His)
|
rs766817979
|
|
|
NM_000179.3(MSH6):c.3466A>G (p.Met1156Val)
|
rs1060502931
|
|
|
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)
|
rs876659549
|
|
|
NM_000179.3(MSH6):c.3468G>A (p.Met1156Ile)
|
rs876658980
|
|
|
NM_000179.3(MSH6):c.3468G>C (p.Met1156Ile)
|
rs876658980
|
|
|
NM_000179.3(MSH6):c.3468G>T (p.Met1156Ile)
|
|
|
|
NM_000179.3(MSH6):c.346G>A (p.Asp116Asn)
|
rs1060502871
|
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
|
NM_000179.3(MSH6):c.3470G>T (p.Gly1157Val)
|
rs752212361
|
|
|
NM_000179.3(MSH6):c.3472T>A (p.Cys1158Ser)
|
rs63750157
|
|
|
NM_000179.3(MSH6):c.3472T>G (p.Cys1158Gly)
|
rs63750157
|
|
|
NM_000179.3(MSH6):c.3478G>C (p.Val1160Leu)
|
rs376799914
|
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
|
NM_000179.3(MSH6):c.347A>G (p.Asp116Gly)
|
rs1553410255
|
|
|
NM_000179.3(MSH6):c.3481C>A (p.Pro1161Thr)
|
rs751190199
|
|
|
NM_000179.3(MSH6):c.3484G>A (p.Ala1162Thr)
|
rs587779266
|
|
|
NM_000179.3(MSH6):c.3484G>C (p.Ala1162Pro)
|
rs587779266
|
|
|
NM_000179.3(MSH6):c.3487G>A (p.Glu1163Lys)
|
rs587779267
|
|
|
NM_000179.3(MSH6):c.3489A>C (p.Glu1163Asp)
|
rs531674673
|
|
|
NM_000179.3(MSH6):c.3490G>A (p.Val1164Met)
|
rs2104506590
|
|
|
NM_000179.3(MSH6):c.3491T>C (p.Val1164Ala)
|
rs2104506640
|
|
|
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)
|
rs1669872142
|
|
|
NM_000179.3(MSH6):c.3498G>C (p.Arg1166Ser)
|
rs1553332214
|
|
|
NM_000179.3(MSH6):c.3499C>G (p.Leu1167Val)
|
rs1553332217
|
|
|
NM_000179.3(MSH6):c.3499C>T (p.Leu1167Phe)
|
rs1553332217
|
|
|
NM_000179.3(MSH6):c.349G>A (p.Gly117Arg)
|
rs1558652014
|
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
|
NM_000179.3(MSH6):c.34C>T (p.Pro12Ser)
|
rs587782084
|
|
|
NM_000179.3(MSH6):c.3500T>A (p.Leu1167His)
|
rs1572738696
|
|
|
NM_000179.3(MSH6):c.3502A>C (p.Thr1168Pro)
|
rs1558389395
|
|
|
NM_000179.3(MSH6):c.3503C>A (p.Thr1168Lys)
|
|
|
|
NM_000179.3(MSH6):c.3503C>T (p.Thr1168Ile)
|
|
|
|
NM_000179.3(MSH6):c.3505C>A (p.Pro1169Thr)
|
rs904846776
|
|
|
NM_000179.3(MSH6):c.3506C>G (p.Pro1169Arg)
|
|
|
|
NM_000179.3(MSH6):c.3508A>C (p.Ile1170Leu)
|
rs1558389423
|
|
|
NM_000179.3(MSH6):c.3508A>G (p.Ile1170Val)
|
rs1558389423
|
|
|
NM_000179.3(MSH6):c.3509T>C (p.Ile1170Thr)
|
rs1572738741
|
|
|
NM_000179.3(MSH6):c.350G>A (p.Gly117Glu)
|
rs1668691850
|
|
|
NM_000179.3(MSH6):c.350G>C (p.Gly117Ala)
|
rs1668691850
|
|
|
NM_000179.3(MSH6):c.3511G>C (p.Asp1171His)
|
rs1669874241
|
|
|
NM_000179.3(MSH6):c.3514A>G (p.Arg1172Gly)
|
rs1669875200
|
|
|
NM_000179.3(MSH6):c.3515G>A (p.Arg1172Lys)
|
rs864622217
|
|
|
NM_000179.3(MSH6):c.3515G>C (p.Arg1172Thr)
|
rs864622217
|
|
|
NM_000179.3(MSH6):c.3516A>T (p.Arg1172Ser)
|
rs1553332262
|
|
|
NM_000179.3(MSH6):c.3517G>A (p.Val1173Met)
|
rs730881806
|
|
|
NM_000179.3(MSH6):c.3517G>C (p.Val1173Leu)
|
rs730881806
|
|
|
NM_000179.3(MSH6):c.3520T>C (p.Phe1174Leu)
|
rs1669876490
|
|
|
NM_000179.3(MSH6):c.3521T>A (p.Phe1174Tyr)
|
rs1669876634
|
|
|
NM_000179.3(MSH6):c.3521T>G (p.Phe1174Cys)
|
rs1669876634
|
|
|
NM_000179.3(MSH6):c.3523A>G (p.Thr1175Ala)
|
|
|
|
NM_000179.3(MSH6):c.3524C>A (p.Thr1175Asn)
|
rs369583604
|
|
|
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser)
|
rs369583604
|
|
|
NM_000179.3(MSH6):c.3524_3540delinsTT (p.Thr1175_Ser1180delinsIle)
|
rs1553332283
|
|
|
NM_000179.3(MSH6):c.3527G>A (p.Arg1176Lys)
|
rs876661148
|
|
|
NM_000179.3(MSH6):c.3529C>A (p.Leu1177Ile)
|
rs748398941
|
|
|
NM_000179.3(MSH6):c.3530T>C (p.Leu1177Pro)
|
|
|
|
NM_000179.3(MSH6):c.3530T>G (p.Leu1177Arg)
|
rs1572738932
|
|
|
NM_000179.3(MSH6):c.3532G>A (p.Gly1178Ser)
|
rs1558389590
|
|
|
NM_000179.3(MSH6):c.3532G>C (p.Gly1178Arg)
|
rs1558389590
|
|
|
NM_000179.3(MSH6):c.3533G>A (p.Gly1178Asp)
|
rs772380953
|
|
|
NM_000179.3(MSH6):c.3533G>T (p.Gly1178Val)
|
|
|
|
NM_000179.3(MSH6):c.3536C>A (p.Ala1179Asp)
|
rs773583312
|
|
|
NM_000179.3(MSH6):c.3536C>T (p.Ala1179Val)
|
rs773583312
|
|
|
NM_000179.3(MSH6):c.3539C>T (p.Ser1180Leu)
|
|
|
|
NM_000179.3(MSH6):c.3541G>C (p.Asp1181His)
|
rs762406364
|
|
|
NM_000179.3(MSH6):c.3542A>G (p.Asp1181Gly)
|
rs876660216
|
|
|
NM_000179.3(MSH6):c.3542A>T (p.Asp1181Val)
|
rs876660216
|
|
|
NM_000179.3(MSH6):c.3543C>A (p.Asp1181Glu)
|
rs267608100
|
|
|
NM_000179.3(MSH6):c.3545G>C (p.Arg1182Thr)
|
rs1669880235
|
|
|
NM_000179.3(MSH6):c.3546AAT[1] (p.Ile1183del)
|
rs751279985
|
|
|
NM_000179.3(MSH6):c.3547A>G (p.Ile1183Val)
|
|
|
|
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys)
|
rs1459635476
|
|
|
NM_000179.3(MSH6):c.3552G>C (p.Met1184Ile)
|
rs1376983554
|
|
|
NM_000179.3(MSH6):c.3552_3554del (p.Met1184_Ser1185delinsIle)
|
rs1669881014
|
|
|
NM_000179.3(MSH6):c.3553T>C (p.Ser1185Pro)
|
rs786202777
|
|
|
NM_000179.3(MSH6):c.3553T>G (p.Ser1185Ala)
|
rs786202777
|
|
|
NM_000179.3(MSH6):c.3555A>C (p.Ser1185=)
|
rs1669881416
|
|
|
NM_000179.3(MSH6):c.3556+20C>G
|
rs750274526
|
|
|
NM_000179.3(MSH6):c.3556+4A>G
|
|
|
|
NM_000179.3(MSH6):c.3556+5_3556+8delinsCATTATTGTCAGG
|
rs2104510542
|
|
|
NM_000179.3(MSH6):c.3556G>T (p.Gly1186Cys)
|
|
|
|
NM_000179.3(MSH6):c.3557-13T>A
|
|
|
|
NM_000179.3(MSH6):c.3557-14T>A
|
|
|
|
NM_000179.3(MSH6):c.3557-2del
|
rs587779271
|
|
|
NM_000179.3(MSH6):c.3557-3A>G
|
rs41295274
|
|
|
NM_000179.3(MSH6):c.3557-5T>G
|
|
|
|
NM_000179.3(MSH6):c.355T>C (p.Phe119Leu)
|
rs1558652032
|
|
|
NM_000179.3(MSH6):c.355T>G (p.Phe119Val)
|
rs1558652032
|
|
|
NM_000179.3(MSH6):c.3560A>T (p.Glu1187Val)
|
rs150632241
|
|
|
NM_000179.3(MSH6):c.3561A>C (p.Glu1187Asp)
|
rs1553332629
|
|
|
NM_000179.3(MSH6):c.3564T>A (p.Ser1188Arg)
|
rs1669957613
|
|
|
NM_000179.3(MSH6):c.3564T>G (p.Ser1188Arg)
|
|
|
|
NM_000179.3(MSH6):c.3568T>G (p.Phe1190Val)
|
rs778651272
|
|
|
NM_000179.3(MSH6):c.356T>G (p.Phe119Cys)
|
rs1060502893
|
|
|
NM_000179.3(MSH6):c.3572T>C (p.Phe1191Ser)
|
rs1420669902
|
|
|
NM_000179.3(MSH6):c.3574G>A (p.Val1192Ile)
|
rs1669959178
|
|
|
NM_000179.3(MSH6):c.3575T>C (p.Val1192Ala)
|
rs1572741755
|
|
|
NM_000179.3(MSH6):c.3578A>C (p.Glu1193Ala)
|
rs2104522976
|
|
|
NM_000179.3(MSH6):c.3579A>C (p.Glu1193Asp)
|
rs1060504759
|
|
|
NM_000179.3(MSH6):c.357C>A (p.Phe119Leu)
|
rs1298565919
|
|
|
NM_000179.3(MSH6):c.3583A>G (p.Ser1195Gly)
|
|
|
|
NM_000179.3(MSH6):c.3584G>C (p.Ser1195Thr)
|
rs758428552
|
|
|
NM_000179.3(MSH6):c.3585T>G (p.Ser1195Arg)
|
rs1572741819
|
|
|
NM_000179.3(MSH6):c.3586G>A (p.Glu1196Lys)
|
rs75095286
|
|
|
NM_000179.3(MSH6):c.3587A>T (p.Glu1196Val)
|
rs1669961764
|
|
|
NM_000179.3(MSH6):c.358A>T (p.Ile120Phe)
|
rs146455343
|
|
|
NM_000179.3(MSH6):c.3590C>A (p.Thr1197Asn)
|
rs1298129961
|
|
|
NM_000179.3(MSH6):c.3590C>G (p.Thr1197Ser)
|
rs1298129961
|
|
|
NM_000179.3(MSH6):c.3590C>T (p.Thr1197Ile)
|
rs1298129961
|
|
|
NM_000179.3(MSH6):c.3593C>T (p.Ala1198Val)
|
|
|
|
NM_000179.3(MSH6):c.3595A>T (p.Ser1199Cys)
|
rs1558390771
|
|
|
NM_000179.3(MSH6):c.3596G>A (p.Ser1199Asn)
|
rs773185557
|
|
|
NM_000179.3(MSH6):c.3596G>C (p.Ser1199Thr)
|
rs773185557
|
|
|
NM_000179.3(MSH6):c.3597C>G (p.Ser1199Arg)
|
|
|
|
NM_000179.3(MSH6):c.3599T>C (p.Ile1200Thr)
|
rs1572741875
|
|
|
NM_000179.3(MSH6):c.359T>G (p.Ile120Ser)
|
rs775971872
|
|
|
NM_000179.3(MSH6):c.35C>G (p.Pro12Arg)
|
rs760603184
|
|
|
NM_000179.3(MSH6):c.3603_3605dup (p.Leu1201_Met1202insIle)
|
rs1064796248
|
|
|
NM_000179.3(MSH6):c.3604A>C (p.Met1202Leu)
|
|
|
|
NM_000179.3(MSH6):c.3605T>G (p.Met1202Arg)
|
rs587779273
|
|
|
NM_000179.3(MSH6):c.3607C>T (p.His1203Tyr)
|
rs876660882
|
|
|
NM_000179.3(MSH6):c.3608A>C (p.His1203Pro)
|
rs1669964889
|
|
|
NM_000179.3(MSH6):c.3608A>G (p.His1203Arg)
|
rs1669964889
|
|
|
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)
|
rs869312799
|
|
|
NM_000179.3(MSH6):c.3613A>G (p.Thr1205Ala)
|
rs1064797252
|
|
|
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup)
|
rs1558390840
|
|
|
NM_000179.3(MSH6):c.3614C>A (p.Thr1205Lys)
|
rs587779275
|
|
|
NM_000179.3(MSH6):c.3614C>T (p.Thr1205Ile)
|
rs587779275
|
|
|
NM_000179.3(MSH6):c.3617C>T (p.Ala1206Val)
|
|
|
|
NM_000179.3(MSH6):c.3619C>T (p.His1207Tyr)
|
rs760391254
|
|
|
NM_000179.3(MSH6):c.3620A>G (p.His1207Arg)
|
rs2104525263
|
|
|
NM_000179.3(MSH6):c.3621T>G (p.His1207Gln)
|
rs766075233
|
|
|
NM_000179.3(MSH6):c.3622T>A (p.Ser1208Thr)
|
|
|
|
NM_000179.3(MSH6):c.3623C>A (p.Ser1208Tyr)
|
rs1572742021
|
|
|
NM_000179.3(MSH6):c.3623C>G (p.Ser1208Cys)
|
rs1572742021
|
|
|
NM_000179.3(MSH6):c.3623C>T (p.Ser1208Phe)
|
rs1572742021
|
|
|
NM_000179.3(MSH6):c.3625C>G (p.Leu1209Val)
|
rs753675331
|
|
|
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)
|
rs1114167688
|
|
|
NM_000179.3(MSH6):c.3628G>A (p.Val1210Met)
|
rs759216143
|
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
|
NM_000179.3(MSH6):c.3634G>C (p.Val1212Leu)
|
rs864622748
|
|
|
NM_000179.3(MSH6):c.3635T>C (p.Val1212Ala)
|
rs1060502896
|
|
|
NM_000179.3(MSH6):c.3637G>A (p.Asp1213Asn)
|
rs1572742149
|
|
|
NM_000179.3(MSH6):c.3637G>C (p.Asp1213His)
|
rs1572742149
|
|
|
NM_000179.3(MSH6):c.3639T>A (p.Asp1213Glu)
|
rs1114167788
|
|
|
NM_000179.3(MSH6):c.3640G>A (p.Glu1214Lys)
|
rs1114167744
|
|
|
NM_000179.3(MSH6):c.3640G>C (p.Glu1214Gln)
|
rs1114167744
|
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
|
NM_000179.3(MSH6):c.3646+4A>G
|
|
|
|
NM_000179.3(MSH6):c.3646+5G>A
|
rs1669974239
|
|
|
NM_000179.3(MSH6):c.3646+5G>C
|
rs1669974239
|
|
|
NM_000179.3(MSH6):c.3646+6A>C
|
rs1669974451
|
|
|
NM_000179.3(MSH6):c.3646+6A>G
|
|
|
|
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg)
|
rs1114167690
|
|
|
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
|
rs1114167690
|
|
|
NM_000179.3(MSH6):c.3647-14T>G
|
|
|
|
NM_000179.3(MSH6):c.3647-20T>G
|
|
|
|
NM_000179.3(MSH6):c.3647-3C>T
|
rs1553332959
|
|
|
NM_000179.3(MSH6):c.3647-5_3647-2dup
|
|
|
|
NM_000179.3(MSH6):c.3647-9_3647-5del
|
rs759094365
|
|
|
NM_000179.3(MSH6):c.3650G>A (p.Arg1217Lys)
|
rs63749898
|
|
|
NM_000179.3(MSH6):c.3650G>C (p.Arg1217Thr)
|
rs63749898
|
|
|
NM_000179.3(MSH6):c.3651A>C (p.Arg1217Ser)
|
rs1553332966
|
|
|
NM_000179.3(MSH6):c.3651A>T (p.Arg1217Ser)
|
rs1553332966
|
|
|
NM_000179.3(MSH6):c.3652G>A (p.Gly1218Ser)
|
rs776407427
|
|
|
NM_000179.3(MSH6):c.3652G>C (p.Gly1218Arg)
|
rs776407427
|
|
|
NM_000179.3(MSH6):c.3653_3667dup (p.Gly1218_Phe1222dup)
|
rs1670040131
|
|
|
NM_000179.3(MSH6):c.3654_3671del (p.Thr1221_Ala1226del)
|
rs1670040273
|
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
|
NM_000179.3(MSH6):c.3657T>G (p.Thr1219=)
|
rs745491567
|
|
|
NM_000179.3(MSH6):c.3657_3661delinsCTCAT (p.Ala1220_Thr1221delinsSerSer)
|
rs1553332973
|
|
|
NM_000179.3(MSH6):c.3658G>A (p.Ala1220Thr)
|
rs769427505
|
|
|
NM_000179.3(MSH6):c.3658G>T (p.Ala1220Ser)
|
|
|
|
NM_000179.3(MSH6):c.3659C>T (p.Ala1220Val)
|
rs2104537293
|
|
|
NM_000179.3(MSH6):c.365A>G (p.Glu122Gly)
|
rs1558652077
|
|
|
NM_000179.3(MSH6):c.3661A>G (p.Thr1221Ala)
|
|
|
|
NM_000179.3(MSH6):c.3661A>T (p.Thr1221Ser)
|
rs1670041286
|
|
|
NM_000179.3(MSH6):c.3661_3663dup (p.Thr1221dup)
|
rs2104537348
|
|
|
NM_000179.3(MSH6):c.3662C>T (p.Thr1221Ile)
|
rs876661139
|
|
|
NM_000179.3(MSH6):c.3664T>G (p.Phe1222Val)
|
rs775265464
|
|
|
NM_000179.3(MSH6):c.3665T>C (p.Phe1222Ser)
|
|
|
|
NM_000179.3(MSH6):c.3667G>A (p.Asp1223Asn)
|
rs2104537711
|
|
|
NM_000179.3(MSH6):c.3669T>G (p.Asp1223Glu)
|
rs1572744487
|
|
|
NM_000179.3(MSH6):c.3670G>A (p.Gly1224Arg)
|
rs1553332985
|
|
|
NM_000179.3(MSH6):c.3670G>C (p.Gly1224Arg)
|
rs1553332985
|
|
|
NM_000179.3(MSH6):c.3674C>A (p.Thr1225Lys)
|
rs63750370
|
|
|
NM_000179.3(MSH6):c.3674C>G (p.Thr1225Arg)
|
|
|
|
NM_000179.3(MSH6):c.3676G>A (p.Ala1226Thr)
|
rs1064794746
|
|
|
NM_000179.3(MSH6):c.3679A>G (p.Ile1227Val)
|
rs587779282
|
|
|
NM_000179.3(MSH6):c.3679_3690del (p.Ile1227_Ala1230del)
|
rs2104538290
|
|
|
NM_000179.3(MSH6):c.3680T>G (p.Ile1227Arg)
|
rs2104538496
|
|
|
NM_000179.3(MSH6):c.3681A>G (p.Ile1227Met)
|
|
|
|
NM_000179.3(MSH6):c.3682G>A (p.Ala1228Thr)
|
|
|
|
NM_000179.3(MSH6):c.3683C>G (p.Ala1228Gly)
|
|
|
|
NM_000179.3(MSH6):c.3683C>T (p.Ala1228Val)
|
rs2104538706
|
|
|
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del)
|
rs2104538620
|
|
|
NM_000179.3(MSH6):c.3685A>T (p.Asn1229Tyr)
|
rs774249402
|
|
|
NM_000179.3(MSH6):c.3687T>A (p.Asn1229Lys)
|
rs2104538967
|
|
|
NM_000179.3(MSH6):c.3687T>G (p.Asn1229Lys)
|
|
|
|
NM_000179.3(MSH6):c.368A>G (p.Lys123Arg)
|
|
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
|
NM_000179.3(MSH6):c.3692T>A (p.Val1231Asp)
|
rs1221659275
|
|
|
NM_000179.3(MSH6):c.3692T>C (p.Val1231Ala)
|
rs1221659275
|
|
|
NM_000179.3(MSH6):c.3694G>A (p.Val1232Ile)
|
rs41295276
|
|
|
NM_000179.3(MSH6):c.3694G>C (p.Val1232Leu)
|
rs41295276
|
|
|
NM_000179.3(MSH6):c.3695T>A (p.Val1232Asp)
|
rs786202887
|
|
|
NM_000179.3(MSH6):c.3695T>C (p.Val1232Ala)
|
|
|
|
NM_000179.3(MSH6):c.3695T>G (p.Val1232Gly)
|
|
|
|
NM_000179.3(MSH6):c.3697A>G (p.Lys1233Glu)
|
rs1572744617
|
|
|
NM_000179.3(MSH6):c.3697_3699del (p.Lys1233del)
|
|
|
|
NM_000179.3(MSH6):c.3698A>G (p.Lys1233Arg)
|
rs766557450
|
|
|
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)
|
rs587782106
|
|
|
NM_000179.3(MSH6):c.3700G>A (p.Glu1234Lys)
|
rs35717727
|
|
|
NM_000179.3(MSH6):c.3702A>T (p.Glu1234Asp)
|
|
|
|
NM_000179.3(MSH6):c.3703C>T (p.Leu1235Phe)
|
rs876661084
|
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
|
NM_000179.3(MSH6):c.3707C>G (p.Ala1236Gly)
|
rs2104540584
|
|
|
NM_000179.3(MSH6):c.3709G>C (p.Glu1237Gln)
|
rs1670047042
|
|
|
NM_000179.3(MSH6):c.370G>C (p.Gly124Arg)
|
rs786203479
|
|
|
NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)
|
rs754289472
|
|
|
NM_000179.3(MSH6):c.3712A>T (p.Thr1238Ser)
|
rs1000702910
|
|
|
NM_000179.3(MSH6):c.3713C>T (p.Thr1238Ile)
|
|
|
|
NM_000179.3(MSH6):c.3715A>G (p.Ile1239Val)
|
rs1469961964
|
|
|
NM_000179.3(MSH6):c.3716T>C (p.Ile1239Thr)
|
rs786203816
|
|
|
NM_000179.3(MSH6):c.3716T>G (p.Ile1239Arg)
|
rs786203816
|
|
|
NM_000179.3(MSH6):c.3717A>G (p.Ile1239Met)
|
rs1572744771
|
|
|
NM_000179.3(MSH6):c.3719A>G (p.Lys1240Arg)
|
rs1553333057
|
|
|
NM_000179.3(MSH6):c.371G>T (p.Gly124Val)
|
rs1553410286
|
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
|
NM_000179.3(MSH6):c.3724C>T (p.Arg1242Cys)
|
rs587779285
|
|
|
NM_000179.3(MSH6):c.3725G>C (p.Arg1242Pro)
|
rs63750119
|
|
|
NM_000179.3(MSH6):c.3727A>C (p.Thr1243Pro)
|
rs147453999
|
|
|
NM_000179.3(MSH6):c.3727A>G (p.Thr1243Ala)
|
rs147453999
|
|
|
NM_000179.3(MSH6):c.3728C>A (p.Thr1243Lys)
|
rs878853737
|
|
|
NM_000179.3(MSH6):c.3728C>G (p.Thr1243Arg)
|
|
|
|
NM_000179.3(MSH6):c.3728C>T (p.Thr1243Ile)
|
rs878853737
|
|
|
NM_000179.3(MSH6):c.3729ATT[3] (p.Leu1244dup)
|
rs876658650
|
|
|
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val)
|
rs1060502938
|
|
|
NM_000179.3(MSH6):c.3731T>C (p.Leu1244Ser)
|
rs1558392241
|
|
|
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala)
|
rs769360577
|
|
|
NM_000179.3(MSH6):c.373A>C (p.Lys125Gln)
|
rs372352774
|
|
|
NM_000179.3(MSH6):c.3743A>G (p.His1248Arg)
|
|
|
|
NM_000179.3(MSH6):c.3744C>A (p.His1248Gln)
|
rs1670056970
|
|
|
NM_000179.3(MSH6):c.3745T>G (p.Tyr1249Asp)
|
|
|
|
NM_000179.3(MSH6):c.374A>C (p.Lys125Thr)
|
rs2104106436
|
|
|
NM_000179.3(MSH6):c.3752C>T (p.Ser1251Leu)
|
rs1558392317
|
|
|
NM_000179.3(MSH6):c.3754T>A (p.Leu1252Ile)
|
rs1415810815
|
|
|
NM_000179.3(MSH6):c.3755TAG[1] (p.Val1253del)
|
rs1670059017
|
|
|
NM_000179.3(MSH6):c.3757G>A (p.Val1253Ile)
|
rs187491488
|
|
|
NM_000179.3(MSH6):c.3757G>C (p.Val1253Leu)
|
rs187491488
|
|
|
NM_000179.3(MSH6):c.3757G>T (p.Val1253Leu)
|
rs187491488
|
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3759AGA[1] (p.Glu1254del)
|
rs587779937
|
|
|
NM_000179.3(MSH6):c.375A>G (p.Lys125=)
|
rs1668695449
|
|
|
NM_000179.3(MSH6):c.3760G>C (p.Glu1254Gln)
|
rs1558392392
|
|
|
NM_000179.3(MSH6):c.3761A>T (p.Glu1254Val)
|
|
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
|
NM_000179.3(MSH6):c.3763_3765dup (p.Asp1255dup)
|
rs1670061805
|
|
|
NM_000179.3(MSH6):c.3764A>T (p.Asp1255Val)
|
|
|
|
NM_000179.3(MSH6):c.3764ATT[1] (p.Tyr1256del)
|
rs2104544843
|
|
|
NM_000179.3(MSH6):c.3766T>A (p.Tyr1256Asn)
|
rs1553333129
|
|
|
NM_000179.3(MSH6):c.3766T>C (p.Tyr1256His)
|
rs1553333129
|
|
|
NM_000179.3(MSH6):c.3767A>G (p.Tyr1256Cys)
|
rs761643896
|
|
|
NM_000179.3(MSH6):c.3770C>A (p.Ser1257Tyr)
|
rs1670062923
|
|
|
NM_000179.3(MSH6):c.3776A>C (p.Asn1259Thr)
|
rs1258636828
|
|
|
NM_000179.3(MSH6):c.3778G>A (p.Val1260Ile)
|
|
|
|
NM_000179.3(MSH6):c.3778G>T (p.Val1260Phe)
|
rs63750673
|
|
|
NM_000179.3(MSH6):c.377C>T (p.Ser126Leu)
|
|
|
|
NM_000179.3(MSH6):c.3781G>A (p.Ala1261Thr)
|
rs2104545816
|
|
|
NM_000179.3(MSH6):c.3781G>T (p.Ala1261Ser)
|
rs2104545816
|
|
|
NM_000179.3(MSH6):c.3784G>A (p.Val1262Met)
|
rs587779290
|
|
|
NM_000179.3(MSH6):c.3784G>C (p.Val1262Leu)
|
rs587779290
|
|
|
NM_000179.3(MSH6):c.3788G>T (p.Arg1263Leu)
|
rs147852216
|
|
|
NM_000179.3(MSH6):c.3788_3796del (p.Arg1263_Gly1265del)
|
rs1670065671
|
|
|
NM_000179.3(MSH6):c.3790C>G (p.Leu1264Val)
|
|
|
|
NM_000179.3(MSH6):c.3793G>A (p.Gly1265Arg)
|
rs754469538
|
|
|
NM_000179.3(MSH6):c.3796C>G (p.His1266Asp)
|
rs972387746
|
|
|
NM_000179.3(MSH6):c.3797A>G (p.His1266Arg)
|
rs760023025
|
|
|
NM_000179.3(MSH6):c.3798T>G (p.His1266Gln)
|
|
|
|
NM_000179.3(MSH6):c.379G>T (p.Val127Phe)
|
|
|
|
NM_000179.3(MSH6):c.37A>C (p.Lys13Gln)
|
rs942019524
|
|
|
NM_000179.3(MSH6):c.37A>G (p.Lys13Glu)
|
rs942019524
|
|
|
NM_000179.3(MSH6):c.3800T>G (p.Met1267Arg)
|
rs148445930
|
|
|
NM_000179.3(MSH6):c.3801+10A>G
|
rs1572745467
|
|
|
NM_000179.3(MSH6):c.3801+3A>G
|
rs753049136
|
|
|
NM_000179.3(MSH6):c.3801+4T>G
|
|
|
|
NM_000179.3(MSH6):c.3801+6T>A
|
rs749922503
|
|
|
NM_000179.3(MSH6):c.3801G>A (p.Met1267Ile)
|
rs1670069736
|
|
|
NM_000179.3(MSH6):c.3802-3A>G
|
rs778499259
|
|
|
NM_000179.3(MSH6):c.3802-5T>G
|
rs876660224
|
|
|
NM_000179.3(MSH6):c.3802-6_3802-4del
|
rs587781932
|
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
|
NM_000179.3(MSH6):c.3802G>A (p.Ala1268Thr)
|
|
|
|
NM_000179.3(MSH6):c.3803C>A (p.Ala1268Glu)
|
rs587779293
|
|
|
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val)
|
rs587779293
|
|
|
NM_000179.3(MSH6):c.3806G>A (p.Cys1269Tyr)
|
rs876658276
|
|
|
NM_000179.3(MSH6):c.3808A>C (p.Met1270Leu)
|
rs757963162
|
|
|
NM_000179.3(MSH6):c.3809T>C (p.Met1270Thr)
|
rs777617756
|
|
|
NM_000179.3(MSH6):c.3809T>G (p.Met1270Arg)
|
|
|
|
NM_000179.3(MSH6):c.380T>G (p.Val127Gly)
|
|
|
|
NM_000179.3(MSH6):c.3810G>A (p.Met1270Ile)
|
rs1558393029
|
|
|
NM_000179.3(MSH6):c.3811G>A (p.Val1271Ile)
|
rs770929545
|
|
|
NM_000179.3(MSH6):c.3811G>T (p.Val1271Leu)
|
|
|
|
NM_000179.3(MSH6):c.3812T>C (p.Val1271Ala)
|
rs1553333303
|
|
|
NM_000179.3(MSH6):c.3814G>C (p.Glu1272Gln)
|
rs2104552027
|
|
|
NM_000179.3(MSH6):c.3815A>G (p.Glu1272Gly)
|
rs1670092894
|
|
|
NM_000179.3(MSH6):c.3817A>G (p.Asn1273Asp)
|
rs1320711528
|
|
|
NM_000179.3(MSH6):c.3820G>A (p.Glu1274Lys)
|
rs587779294
|
|
|
NM_000179.3(MSH6):c.3820G>C (p.Glu1274Gln)
|
rs587779294
|
|
|
NM_000179.3(MSH6):c.3823T>A (p.Cys1275Ser)
|
rs1670094883
|
|
|
NM_000179.3(MSH6):c.3823T>C (p.Cys1275Arg)
|
rs1670094883
|
|
|
NM_000179.3(MSH6):c.3823_3828del (p.Cys1275_Glu1276del)
|
rs1558393107
|
|
|
NM_000179.3(MSH6):c.3824G>C (p.Cys1275Ser)
|
rs150990541
|
|
|
NM_000179.3(MSH6):c.3824G>T (p.Cys1275Phe)
|
rs150990541
|
|
|
NM_000179.3(MSH6):c.3827A>G (p.Glu1276Gly)
|
rs1572746334
|
|
|
NM_000179.3(MSH6):c.382C>A (p.Arg128Ser)
|
|
|
|
NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)
|
rs1251938412
|
|
|
NM_000179.3(MSH6):c.3831C>G (p.Asp1277Glu)
|
rs775752224
|
|
|
NM_000179.3(MSH6):c.3832C>G (p.Pro1278Ala)
|
rs587782109
|
|
|
NM_000179.3(MSH6):c.3832C>T (p.Pro1278Ser)
|
rs587782109
|
|
|
NM_000179.3(MSH6):c.3833C>A (p.Pro1278His)
|
rs201191389
|
|
|
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg)
|
rs201191389
|
|
|
NM_000179.3(MSH6):c.3835A>G (p.Ser1279Gly)
|
|
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
|
NM_000179.3(MSH6):c.3836G>T (p.Ser1279Ile)
|
|
|
|
NM_000179.3(MSH6):c.3837C>A (p.Ser1279Arg)
|
rs876661245
|
|
|
NM_000179.3(MSH6):c.3839A>C (p.Gln1280Pro)
|
rs1210663110
|
|
|
NM_000179.3(MSH6):c.383G>A (p.Arg128His)
|
rs63750143
|
|
|
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)
|
rs63750143
|
|
|
NM_000179.3(MSH6):c.3840G>T (p.Gln1280His)
|
|
|
|
NM_000179.3(MSH6):c.3841G>A (p.Glu1281Lys)
|
rs876659115
|
|
|
NM_000179.3(MSH6):c.3842A>G (p.Glu1281Gly)
|
|
|
|
NM_000179.3(MSH6):c.3842_3877dup (p.Glu1281_Gly1292dup)
|
rs1670100146
|
|
|
NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)
|
rs864622384
|
|
|
NM_000179.3(MSH6):c.3844A>C (p.Thr1282Pro)
|
rs764507968
|
|
|
NM_000179.3(MSH6):c.3844A>G (p.Thr1282Ala)
|
rs764507968
|
|
|
NM_000179.3(MSH6):c.3844_3873dup (p.Thr1282_Lys1291dup)
|
rs1328755147
|
|
|
NM_000179.3(MSH6):c.3845C>T (p.Thr1282Ile)
|
|
|
|
NM_000179.3(MSH6):c.3845_3847del (p.Thr1282del)
|
rs1367615271
|
|
|
NM_000179.3(MSH6):c.3847A>T (p.Ile1283Phe)
|
|
|
|
NM_000179.3(MSH6):c.3847_3858dup (p.Ile1283_Leu1286dup)
|
rs1553333410
|
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
|
NM_000179.3(MSH6):c.3850A>G (p.Thr1284Ala)
|
rs1114167743
|
|
|
NM_000179.3(MSH6):c.3850A>T (p.Thr1284Ser)
|
|
|
|
NM_000179.3(MSH6):c.3850_3851insGGA (p.Ile1283_Thr1284insArg)
|
rs1553333421
|
|
|
NM_000179.3(MSH6):c.3851C>A (p.Thr1284Lys)
|
rs63750836
|
|
|
NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg)
|
rs63750836
|
|
|
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del)
|
rs1572746651
|
|
|
NM_000179.3(MSH6):c.3854T>A (p.Phe1285Tyr)
|
rs1553333453
|
|
|
NM_000179.3(MSH6):c.3855C>G (p.Phe1285Leu)
|
rs1553333455
|
|
|
NM_000179.3(MSH6):c.3856C>G (p.Leu1286Val)
|
rs1060502887
|
|
|
NM_000179.3(MSH6):c.3856C>T (p.Leu1286Phe)
|
rs1060502887
|
|
|
NM_000179.3(MSH6):c.3859T>C (p.Tyr1287His)
|
rs1553333474
|
|
|
NM_000179.3(MSH6):c.3859delinsATTA (p.Tyr1287delinsIleAsn)
|
rs1670107084
|
|
|
NM_000179.3(MSH6):c.385G>A (p.Val129Ile)
|
rs1572708884
|
|
|
NM_000179.3(MSH6):c.385G>C (p.Val129Leu)
|
rs1572708884
|
|
|
NM_000179.3(MSH6):c.385G>T (p.Val129Phe)
|
|
|
|
NM_000179.3(MSH6):c.3860A>G (p.Tyr1287Cys)
|
rs2104556282
|
|
|
NM_000179.3(MSH6):c.3862A>C (p.Lys1288Gln)
|
rs1670108145
|
|
|
NM_000179.3(MSH6):c.3862_3882dup (p.Lys1288_Cys1294dup)
|
rs1670107768
|
|
|
NM_000179.3(MSH6):c.3863A>T (p.Lys1288Ile)
|
rs1572746849
|
|
|
NM_000179.3(MSH6):c.3865T>G (p.Phe1289Val)
|
rs1670109084
|
|
|
NM_000179.3(MSH6):c.3867C>G (p.Phe1289Leu)
|
rs878853740
|
|
|
NM_000179.3(MSH6):c.3868A>G (p.Ile1290Val)
|
|
|
|
NM_000179.3(MSH6):c.3871A>C (p.Lys1291Gln)
|
rs1553333490
|
|
|
NM_000179.3(MSH6):c.3871A>G (p.Lys1291Glu)
|
rs1553333490
|
|
|
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
|
rs1670110153
|
|
|
NM_000179.3(MSH6):c.3874G>A (p.Gly1292Arg)
|
rs1670110414
|
|
|
NM_000179.3(MSH6):c.3875G>C (p.Gly1292Ala)
|
rs1553333492
|
|
|
NM_000179.3(MSH6):c.3877G>A (p.Ala1293Thr)
|
|
|
|
NM_000179.3(MSH6):c.3877G>C (p.Ala1293Pro)
|
rs1461336062
|
|
|
NM_000179.3(MSH6):c.3877G>T (p.Ala1293Ser)
|
rs1461336062
|
|
|
NM_000179.3(MSH6):c.3878C>A (p.Ala1293Asp)
|
rs764835191
|
|
|
NM_000179.3(MSH6):c.3878C>T (p.Ala1293Val)
|
rs764835191
|
|
|
NM_000179.3(MSH6):c.3881G>A (p.Cys1294Tyr)
|
rs878853741
|
|
|
NM_000179.3(MSH6):c.3881G>C (p.Cys1294Ser)
|
|
|
|
NM_000179.3(MSH6):c.3881G>T (p.Cys1294Phe)
|
rs878853741
|
|
|
NM_000179.3(MSH6):c.3883C>T (p.Pro1295Ser)
|
rs2104558109
|
|
|
NM_000179.3(MSH6):c.3887A>G (p.Lys1296Arg)
|
rs1553333526
|
|
|
NM_000179.3(MSH6):c.3889A>T (p.Ser1297Cys)
|
rs1670114718
|
|
|
NM_000179.3(MSH6):c.3890G>A (p.Ser1297Asn)
|
rs1670115084
|
|
|
NM_000179.3(MSH6):c.3890G>C (p.Ser1297Thr)
|
rs1670115084
|
|
|
NM_000179.3(MSH6):c.3891C>G (p.Ser1297Arg)
|
|
|
|
NM_000179.3(MSH6):c.3892T>A (p.Tyr1298Asn)
|
rs1572747027
|
|
|
NM_000179.3(MSH6):c.3895G>A (p.Gly1299Ser)
|
rs1553333534
|
|
|
NM_000179.3(MSH6):c.3896G>A (p.Gly1299Asp)
|
|
|
|
NM_000179.3(MSH6):c.3898T>G (p.Phe1300Val)
|
|
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
|
NM_000179.3(MSH6):c.38A>T (p.Lys13Met)
|
rs41294988
|
|
|
NM_000179.3(MSH6):c.3901A>C (p.Asn1301His)
|
rs1184905732
|
|
|
NM_000179.3(MSH6):c.3901_3912del (p.Asn1301_Arg1304del)
|
rs1114167762
|
|
|
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr)
|
rs1553333561
|
|
|
NM_000179.3(MSH6):c.3904G>T (p.Ala1302Ser)
|
|
|
|
NM_000179.3(MSH6):c.3904_3921dup (p.Ala1302_Asn1307dup)
|
rs876661157
|
|
|
NM_000179.3(MSH6):c.3905C>T (p.Ala1302Val)
|
|
|
|
NM_000179.3(MSH6):c.3911G>C (p.Arg1304Thr)
|
rs34625968
|
|
|
NM_000179.3(MSH6):c.3911G>T (p.Arg1304Met)
|
rs34625968
|
|
|
NM_000179.3(MSH6):c.3912G>C (p.Arg1304Ser)
|
rs786202333
|
|
|
NM_000179.3(MSH6):c.3913C>A (p.Leu1305Ile)
|
|
|
|
NM_000179.3(MSH6):c.3916G>A (p.Ala1306Thr)
|
|
|
|
NM_000179.3(MSH6):c.3917C>G (p.Ala1306Gly)
|
|
|
|
NM_000179.3(MSH6):c.3918_3929dup (p.Pro1309_Glu1310insAspAsnLeuPro)
|
|
|
|
NM_000179.3(MSH6):c.3919A>C (p.Asn1307His)
|
rs730881808
|
|
|
NM_000179.3(MSH6):c.3919A>T (p.Asn1307Tyr)
|
rs730881808
|
|
|
NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr)
|
|
|
|
NM_000179.3(MSH6):c.391G>T (p.Val131Leu)
|
rs765060096
|
|
|
NM_000179.3(MSH6):c.3920A>G (p.Asn1307Ser)
|
|
|
|
NM_000179.3(MSH6):c.3921T>A (p.Asn1307Lys)
|
rs876659660
|
|
|
NM_000179.3(MSH6):c.3921T>G (p.Asn1307Lys)
|
rs876659660
|
|
|
NM_000179.3(MSH6):c.3922C>G (p.Leu1308Val)
|
rs1670123500
|
|
|
NM_000179.3(MSH6):c.3922C>T (p.Leu1308Phe)
|
rs1670123500
|
|
|
NM_000179.3(MSH6):c.3923T>G (p.Leu1308Arg)
|
rs1670124114
|
|
|
NM_000179.3(MSH6):c.3926C>A (p.Pro1309Gln)
|
|
|
|
NM_000179.3(MSH6):c.3926C>T (p.Pro1309Leu)
|
rs1553333601
|
|
|
NM_000179.3(MSH6):c.3927_3971dup (p.Glu1310_Glu1324dup)
|
rs1670126355
|
|
|
NM_000179.3(MSH6):c.392T>C (p.Val131Ala)
|
rs1668697788
|
|
|
NM_000179.3(MSH6):c.3930G>T (p.Glu1310Asp)
|
rs267608129
|
|
|
NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup)
|
rs774984690
|
|
|
NM_000179.3(MSH6):c.3933_3944dup (p.Lys1315_Gly1316insValIleGlnLys)
|
|
|
|
NM_000179.3(MSH6):c.3934G>C (p.Val1312Leu)
|
rs1553333634
|
|
|
NM_000179.3(MSH6):c.3935T>C (p.Val1312Ala)
|
rs2104562596
|
|
|
NM_000179.3(MSH6):c.3936_3941dup (p.Ile1313_Gln1314insHisIle)
|
rs1553333654
|
|
|
NM_000179.3(MSH6):c.3936_4001+8dup
|
rs1572747475
|
|
|
NM_000179.3(MSH6):c.3937A>T (p.Ile1313Phe)
|
rs1558394171
|
|
|
NM_000179.3(MSH6):c.3938T>A (p.Ile1313Asn)
|
rs762115705
|
|
|
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup)
|
rs1553333670
|
|
|
NM_000179.3(MSH6):c.3940C>A (p.Gln1314Lys)
|
rs1416452389
|
|
|
NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)
|
rs1416452389
|
|
|
NM_000179.3(MSH6):c.3944A>G (p.Lys1315Arg)
|
rs1558394245
|
|
|
NM_000179.3(MSH6):c.3945G>C (p.Lys1315Asn)
|
|
|
|
NM_000179.3(MSH6):c.3946G>A (p.Gly1316Arg)
|
rs773675555
|
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
|
NM_000179.3(MSH6):c.3949C>T (p.His1317Tyr)
|
rs759092293
|
|
|
NM_000179.3(MSH6):c.394C>G (p.Gln132Glu)
|
rs587782101
|
|
|
NM_000179.3(MSH6):c.3950A>G (p.His1317Arg)
|
rs2104564078
|
|
|
NM_000179.3(MSH6):c.3950_3976dup (p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys)
|
rs776322353
|
|
|
NM_000179.3(MSH6):c.3951T>A (p.His1317Gln)
|
rs764786814
|
|
|
NM_000179.3(MSH6):c.3951T>G (p.His1317Gln)
|
rs764786814
|
|
|
NM_000179.3(MSH6):c.3952A>G (p.Arg1318Gly)
|
rs1572747685
|
|
|
NM_000179.3(MSH6):c.3953G>A (p.Arg1318Lys)
|
rs946147823
|
|
|
NM_000179.3(MSH6):c.3954_3971dup (p.Ala1320_Lys1325dup)
|
rs1670138558
|
|
|
NM_000179.3(MSH6):c.3955A>C (p.Lys1319Gln)
|
|
|
|
NM_000179.3(MSH6):c.3956A>C (p.Lys1319Thr)
|
rs876659383
|
|
|
NM_000179.3(MSH6):c.3956A>G (p.Lys1319Arg)
|
rs876659383
|
|
|
NM_000179.3(MSH6):c.3956A>T (p.Lys1319Ile)
|
rs876659383
|
|
|
NM_000179.3(MSH6):c.3958G>A (p.Ala1320Thr)
|
|
|
|
NM_000179.3(MSH6):c.3958G>C (p.Ala1320Pro)
|
rs376300764
|
|
|
NM_000179.3(MSH6):c.3958G>T (p.Ala1320Ser)
|
|
|
|
NM_000179.3(MSH6):c.3959C>A (p.Ala1320Glu)
|
rs1670139654
|
|
|
NM_000179.3(MSH6):c.3959C>G (p.Ala1320Gly)
|
|
|
|
NM_000179.3(MSH6):c.3959C>T (p.Ala1320Val)
|
|
|
|
NM_000179.3(MSH6):c.395A>G (p.Gln132Arg)
|
rs587779298
|
|
|
NM_000179.3(MSH6):c.3962G>C (p.Arg1321Thr)
|
|
|
|
NM_000179.3(MSH6):c.3962G>T (p.Arg1321Ile)
|
rs1064795473
|
|
|
NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)
|
rs267608125
|
|
|
NM_000179.3(MSH6):c.3964G>C (p.Glu1322Gln)
|
rs1553333707
|
|
|
NM_000179.3(MSH6):c.3965A>G (p.Glu1322Gly)
|
rs763608368
|
|
|
NM_000179.3(MSH6):c.3967T>G (p.Phe1323Val)
|
rs1572747817
|
|
|
NM_000179.3(MSH6):c.3968T>A (p.Phe1323Tyr)
|
rs1051564593
|
|
|
NM_000179.3(MSH6):c.3968T>G (p.Phe1323Cys)
|
rs1051564593
|
|
|
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)
|
rs1057520473
|
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
|
|
NM_000179.3(MSH6):c.3970G>A (p.Glu1324Lys)
|
rs540890590
|
|
|
NM_000179.3(MSH6):c.3971A>C (p.Glu1324Ala)
|
rs1114167738
|
|
|
NM_000179.3(MSH6):c.3971A>G (p.Glu1324Gly)
|
|
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
|
NM_000179.3(MSH6):c.3974A>C (p.Lys1325Thr)
|
rs876658189
|
|
|
NM_000179.3(MSH6):c.3974A>T (p.Lys1325Met)
|
rs876658189
|
|
|
NM_000179.3(MSH6):c.3975G>C (p.Lys1325Asn)
|
rs1670146687
|
|
|
NM_000179.3(MSH6):c.3976A>C (p.Met1326Leu)
|
rs587779939
|
|
|
NM_000179.3(MSH6):c.3976A>T (p.Met1326Leu)
|
rs587779939
|
|
|
NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)
|
rs757089977
|
|
|
NM_000179.3(MSH6):c.3977T>G (p.Met1326Arg)
|
rs757089977
|
|
|
NM_000179.3(MSH6):c.3977_3979dup (p.Met1326dup)
|
rs1670146869
|
|
|
NM_000179.3(MSH6):c.3978G>C (p.Met1326Ile)
|
rs141464646
|
|
|
NM_000179.3(MSH6):c.3978G>T (p.Met1326Ile)
|
rs141464646
|
|
|
NM_000179.3(MSH6):c.3978_3995dup (p.Asn1327_Leu1332dup)
|
rs1553333731
|
|
|
NM_000179.3(MSH6):c.3979_4001+1dup
|
rs1558394580
|
|
|
NM_000179.3(MSH6):c.3980A>C (p.Asn1327Thr)
|
|
|
|
NM_000179.3(MSH6):c.3983A>C (p.Gln1328Pro)
|
rs587779940
|
|
|
NM_000179.3(MSH6):c.3983A>T (p.Gln1328Leu)
|
rs587779940
|
|
|
NM_000179.3(MSH6):c.3984G>C (p.Gln1328His)
|
|
|
|
NM_000179.3(MSH6):c.3985T>A (p.Ser1329Thr)
|
|
|
|
NM_000179.3(MSH6):c.3985T>C (p.Ser1329Pro)
|
|
|
|
NM_000179.3(MSH6):c.3988C>A (p.Leu1330Ile)
|
rs768944975
|
|
|
NM_000179.3(MSH6):c.3988C>G (p.Leu1330Val)
|
rs768944975
|
|
|
NM_000179.3(MSH6):c.3991C>G (p.Arg1331Gly)
|
rs267608094
|
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.3992G>C (p.Arg1331Pro)
|
|
|
|
NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.3993ATT[3] (p.Leu1332dup)
|
rs2104567877
|
|
|
NM_000179.3(MSH6):c.3994T>A (p.Leu1332Ile)
|
rs786204160
|
|
|
NM_000179.3(MSH6):c.3994T>G (p.Leu1332Val)
|
rs786204160
|
|
|
NM_000179.3(MSH6):c.3995T>C (p.Leu1332Ser)
|
rs2104568015
|
|
|
NM_000179.3(MSH6):c.3997T>C (p.Phe1333Leu)
|
rs2104568183
|
|
|
NM_000179.3(MSH6):c.3999T>G (p.Phe1333Leu)
|
|
|
|
NM_000179.3(MSH6):c.3del (p.Met1fs)
|
rs1553408068
|
|
|
NM_000179.3(MSH6):c.4000C>A (p.Arg1334=)
|
rs773763465
|
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+3A>C
|
rs1670156041
|
|
|
NM_000179.3(MSH6):c.4001+42_4001+44dup
|
rs926031657
|
|
|
NM_000179.3(MSH6):c.4001+5C>G
|
rs786202305
|
|
|
NM_000179.3(MSH6):c.4001+5C>T
|
rs786202305
|
|
|
NM_000179.3(MSH6):c.4001+5_4001+25dup
|
|
|
|
NM_000179.3(MSH6):c.4001+5_4001+6insAGTTA
|
|
|
|
NM_000179.3(MSH6):c.4001+6T>C
|
rs1670157898
|
|
|
NM_000179.3(MSH6):c.4001+9_4001+10insCTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGAAACAGTAAAAGGGGAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
|
|
|
|
NM_000179.3(MSH6):c.4001+9_4002-12dup
|
|
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
|
NM_000179.3(MSH6):c.4002-10T>G
|
rs545466048
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
|
NM_000179.3(MSH6):c.4002-18_4002-4del
|
|
|
|
NM_000179.3(MSH6):c.4002-1_4010dup
|
rs1572749857
|
|
|
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG
|
rs878853744
|
|
|
NM_000179.3(MSH6):c.4002-22_4002-4del
|
rs587779310
|
|
|
NM_000179.3(MSH6):c.4002-23_4002-4del
|
|
|
|
NM_000179.3(MSH6):c.4002-24_4002-10del
|
rs59056100
|
|
|
NM_000179.3(MSH6):c.4002-3A>C
|
rs1435779670
|
|
|
NM_000179.3(MSH6):c.4002-4_4020dup
|
rs2104577963
|
|
|
NM_000179.3(MSH6):c.4002-54_4004del
|
rs2104572568
|
|
|
NM_000179.3(MSH6):c.4002-5T>A
|
|
|
|
NM_000179.3(MSH6):c.4002-5T>G
|
rs1060502872
|
|
|
NM_000179.3(MSH6):c.4002-6T>G
|
rs2104577757
|
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
|
NM_000179.3(MSH6):c.4002-7_4029dup
|
|
|
|
NM_000179.3(MSH6):c.4002-8A>G
|
rs778957100
|
|
|
NM_000179.3(MSH6):c.4002-9_4002-7del
|
rs864622105
|
|
|
NM_000179.3(MSH6):c.4002_4023dup (p.Arg1342delinsGlySerLeuProGlyTer)
|
rs2104578677
|
|
|
NM_000179.3(MSH6):c.4003G>C (p.Glu1335Gln)
|
rs1572749872
|
|
|
NM_000179.3(MSH6):c.4003G>T (p.Glu1335Ter)
|
|
|
|
NM_000179.3(MSH6):c.4003_4019dup (p.Ser1340fs)
|
rs1670207545
|
|
|
NM_000179.3(MSH6):c.4004_4006dup (p.Glu1335_Val1336insGlu)
|
|
|
|
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)
|
rs876658497
|
|
|
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs)
|
rs1670208407
|
|
|
NM_000179.3(MSH6):c.4006G>A (p.Val1336Ile)
|
rs771181616
|
|
|
NM_000179.3(MSH6):c.4006G>C (p.Val1336Leu)
|
rs771181616
|
|
|
NM_000179.3(MSH6):c.4006_4008dup (p.Val1336dup)
|
rs2104579268
|
|
|
NM_000179.3(MSH6):c.4007T>G (p.Val1336Gly)
|
rs1558395526
|
|
|
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs)
|
rs1553333981
|
|
|
NM_000179.3(MSH6):c.4009del (p.Cys1337fs)
|
|
|
|
NM_000179.3(MSH6):c.4010G>C (p.Cys1337Ser)
|
|
|
|
NM_000179.3(MSH6):c.4011C>G (p.Cys1337Trp)
|
|
|
|
NM_000179.3(MSH6):c.4011_4019dup (p.Leu1338_Ser1340dup)
|
rs959068333
|
|
|
NM_000179.3(MSH6):c.4011_4021dup (p.Glu1341fs)
|
|
|
|
NM_000179.3(MSH6):c.4014G>A (p.Leu1338=)
|
|
|
|
NM_000179.3(MSH6):c.4015_4021dup (p.Glu1341delinsGlyTer)
|
rs1670210490
|
|
|
NM_000179.3(MSH6):c.4015_4023dup (p.Ala1339_Glu1341dup)
|
rs1670210843
|
|
|
NM_000179.3(MSH6):c.4015_4033del (p.Leu1338_Ala1339insTer)
|
rs1558395566
|
|
|
NM_000179.3(MSH6):c.4016C>T (p.Ala1339Val)
|
rs528399386
|
|
|
NM_000179.3(MSH6):c.4016_4068dup (p.Ile1357delinsLeuValLysGlyGlnLeuTer)
|
rs1670211088
|
|
|
NM_000179.3(MSH6):c.4018_4032del (p.Ser1340_Thr1344del)
|
rs1553333998
|
|
|
NM_000179.3(MSH6):c.4019G>T (p.Ser1340Ile)
|
|
|
|
NM_000179.3(MSH6):c.4020T>G (p.Ser1340Arg)
|
rs1558395612
|
|
|
NM_000179.3(MSH6):c.4021G>C (p.Glu1341Gln)
|
|
|
|
NM_000179.3(MSH6):c.4021_4027del (p.Glu1341fs)
|
|
|
|
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer)
|
rs1553334006
|
|
|
NM_000179.3(MSH6):c.4024_4044del (p.Arg1342_Glu1348del)
|
rs1064792973
|
|
|
NM_000179.3(MSH6):c.4025_4069dup (p.Arg1342_Leu1356dup)
|
rs1670213430
|
|
|
NM_000179.3(MSH6):c.4027T>C (p.Ser1343Pro)
|
rs1670214006
|
|
|
NM_000179.3(MSH6):c.4027_4028del (p.Ser1343fs)
|
rs1572750047
|
|
|
NM_000179.3(MSH6):c.4028_4038dup (p.Ala1347delinsGlnLeuTer)
|
|
|
|
NM_000179.3(MSH6):c.4028_4041dup (p.Glu1348delinsGlnLeuTer)
|
rs2104581679
|
|
|
NM_000179.3(MSH6):c.4029_*13dup (p.Ser1343_Ter1361=)
|
rs1670214702
|
|
|
NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup)
|
rs772655560
|
|
|
NM_000179.3(MSH6):c.4029_4032dup (p.Val1345fs)
|
|
|
|
NM_000179.3(MSH6):c.4030A>G (p.Thr1344Ala)
|
rs1553334019
|
|
|
NM_000179.3(MSH6):c.4031C>A (p.Thr1344Asn)
|
rs1572750070
|
|
|
NM_000179.3(MSH6):c.4031C>T (p.Thr1344Ile)
|
rs1572750070
|
|
|
NM_000179.3(MSH6):c.4033_4034del (p.Val1345fs)
|
|
|
|
NM_000179.3(MSH6):c.4034T>C (p.Val1345Ala)
|
|
|
|
NM_000179.3(MSH6):c.4034T>G (p.Val1345Gly)
|
rs1670215600
|
|
|
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)
|
rs864622703
|
|
|
NM_000179.3(MSH6):c.4035_4041del (p.Asp1346fs)
|
rs2104582221
|
|
|
NM_000179.3(MSH6):c.4036_4049dup (p.His1351fs)
|
|
|
|
NM_000179.3(MSH6):c.4037A>C (p.Asp1346Ala)
|
rs1456961917
|
|
|
NM_000179.3(MSH6):c.4037A>G (p.Asp1346Gly)
|
rs1456961917
|
|
|
NM_000179.3(MSH6):c.4038T>A (p.Asp1346Glu)
|
rs2104582429
|
|
|
NM_000179.3(MSH6):c.403G>C (p.Asp135His)
|
rs1668699343
|
|
|
NM_000179.3(MSH6):c.4042G>A (p.Glu1348Lys)
|
rs1670216733
|
|
|
NM_000179.3(MSH6):c.4043A>T (p.Glu1348Val)
|
rs1449733937
|
|
|
NM_000179.3(MSH6):c.4043_*13dup (p.Ala1347_Ter1361=)
|
|
|
|
NM_000179.3(MSH6):c.4044A>C (p.Glu1348Asp)
|
rs786203740
|
|
|
NM_000179.3(MSH6):c.4045G>T (p.Ala1349Ser)
|
rs1670217544
|
|
|
NM_000179.3(MSH6):c.4048G>A (p.Val1350Ile)
|
rs772707858
|
|
|
NM_000179.3(MSH6):c.4048G>C (p.Val1350Leu)
|
rs772707858
|
|
|
NM_000179.3(MSH6):c.4049T>A (p.Val1350Asp)
|
rs1670218093
|
|
|
NM_000179.3(MSH6):c.4051C>A (p.His1351Asn)
|
rs1558395737
|
|
|
NM_000179.3(MSH6):c.4051C>T (p.His1351Tyr)
|
rs1558395737
|
|
|
NM_000179.3(MSH6):c.4051_*18dup (p.Val1350_Ter1361=)
|
|
|
|
NM_000179.3(MSH6):c.4051_4069dup (p.Ile1357delinsThrTer)
|
|
|
|
NM_000179.3(MSH6):c.4052A>C (p.His1351Pro)
|
|
|
|
NM_000179.3(MSH6):c.4052A>T (p.His1351Leu)
|
rs1325140069
|
|
|
NM_000179.3(MSH6):c.4053_4072dup (p.Lys1358delinsIleAsnCysTer)
|
rs2104583465
|
|
|
NM_000179.3(MSH6):c.4054A>G (p.Lys1352Glu)
|
rs587782309
|
|
|
NM_000179.3(MSH6):c.4055_4057dup (p.Leu1353Ter)
|
rs2104583736
|
|
|
NM_000179.3(MSH6):c.4057T>G (p.Leu1353Val)
|
rs2104583838
|
|
|
NM_000179.3(MSH6):c.4059G>C (p.Leu1353Phe)
|
rs1553334048
|
|
|
NM_000179.3(MSH6):c.405T>A (p.Asp135Glu)
|
rs1230586400
|
|
|
NM_000179.3(MSH6):c.4060C>G (p.Leu1354Val)
|
rs1057521054
|
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
|
NM_000179.3(MSH6):c.4064_4065insGTCA (p.Leu1356fs)
|
rs267608141
|
|
|
NM_000179.3(MSH6):c.4066_4067dup (p.Leu1356fs)
|
|
|
|
NM_000179.3(MSH6):c.4067T>G (p.Leu1356Trp)
|
|
|
|
NM_000179.3(MSH6):c.4067_*27dup (p.Leu1356_Ter1361=)
|
rs2104584852
|
|
|
NM_000179.3(MSH6):c.4067_4071dup (p.Lys1358Ter)
|
|
|
|
NM_000179.3(MSH6):c.4067dup (p.Leu1356fs)
|
|
|
|
NM_000179.3(MSH6):c.4068_*22dup (p.Leu1356_Ter1361=)
|
rs1204768952
|
|
|
NM_000179.3(MSH6):c.4068_4071del (p.Ile1357fs)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.4068_4072dup (p.Lys1358fs)
|
|
|
|
NM_000179.3(MSH6):c.4068dup (p.Ile1357fs)
|
rs2104584954
|
|
|
NM_000179.3(MSH6):c.4069A>C (p.Ile1357Leu)
|
|
|
|
NM_000179.3(MSH6):c.4069A>G (p.Ile1357Val)
|
rs2104585148
|
|
|
NM_000179.3(MSH6):c.406G>A (p.Asp136Asn)
|
rs2104108904
|
|
|
NM_000179.3(MSH6):c.4070T>C (p.Ile1357Thr)
|
|
|
|
NM_000179.3(MSH6):c.4070T>G (p.Ile1357Ser)
|
rs1209834047
|
|
|
NM_000179.3(MSH6):c.4070_*16del (p.Ile1357_Ter1361delinsXaa)
|
rs1670225485
|
|
|
NM_000179.3(MSH6):c.4070_*23del (p.Ile1357fs)
|
|
|
|
NM_000179.3(MSH6):c.4070_*5del (p.Ile1357fs)
|
rs1572750348
|
|
|
NM_000179.3(MSH6):c.4071T>G (p.Ile1357Met)
|
rs1553334107
|
|
|
NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=)
|
|
|
|
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)
|
rs199739099
|
|
|
NM_000179.3(MSH6):c.4072_*12del (p.Lys1358_Ter1361del)
|
rs1553334099
|
|
|
NM_000179.3(MSH6):c.4072_4074del (p.Lys1358del)
|
|
|
|
NM_000179.3(MSH6):c.4073A>G (p.Lys1358Arg)
|
rs1553334111
|
|
|
NM_000179.3(MSH6):c.4073_*33dup (p.Lys1358_Ter1361=)
|
rs1289787991
|
|
|
NM_000179.3(MSH6):c.4073_4080dup (p.Ter1361ArgextTer?)
|
rs587782547
|
|
|
NM_000179.3(MSH6):c.4073_4082del (p.Lys1358fs)
|
rs1670226421
|
|
|
NM_000179.3(MSH6):c.4073dup (p.Glu1359fs)
|
rs2104585660
|
|
|
NM_000179.3(MSH6):c.4074G>C (p.Lys1358Asn)
|
rs759392159
|
|
|
NM_000179.3(MSH6):c.4074G>T (p.Lys1358Asn)
|
rs759392159
|
|
|
NM_000179.3(MSH6):c.4074_*5del (p.Lys1358_Ter1361delinsXaa)
|
|
|
|
NM_000179.3(MSH6):c.4075G>A (p.Glu1359Lys)
|
rs267608081
|
|
|
NM_000179.3(MSH6):c.4077A>T (p.Glu1359Asp)
|
rs2104586029
|
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
|
NM_000179.3(MSH6):c.4079T>C (p.Leu1360Ser)
|
|
|
|
NM_000179.3(MSH6):c.4079_*9dup (p.Leu1360_Ter1361=)
|
rs1670228993
|
|
|
NM_000179.3(MSH6):c.4079_4081dup (p.Leu1360dup)
|
rs1553334041
|
|
|
NM_000179.3(MSH6):c.407A>C (p.Asp136Ala)
|
|
|
|
NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)
|
rs863224830
|
|
|
NM_000179.3(MSH6):c.4081dup (p.Ter1361LeuextTer?)
|
rs1060502898
|
|
|
NM_000179.3(MSH6):c.4082A>T (p.Ter1361Leu)
|
rs907892681
|
|
|
NM_000179.3(MSH6):c.4082_*11del (p.Ter1361LeuextTer?)
|
rs1064794082
|
|
|
NM_000179.3(MSH6):c.4082_*8dup (p.Ter1361=)
|
rs2104586653
|
|
|
NM_000179.3(MSH6):c.4083G>C (p.Ter1361Tyr)
|
rs1553334125
|
|
|
NM_000179.3(MSH6):c.4083GACT[1] (p.Ter1361=)
|
rs765313977
|
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
|
NM_000179.3(MSH6):c.408C>G (p.Asp136Glu)
|
rs878853746
|
|
|
NM_000179.3(MSH6):c.409A>T (p.Ser137Cys)
|
|
|
|
NM_000179.3(MSH6):c.410G>A (p.Ser137Asn)
|
|
|
|
NM_000179.3(MSH6):c.410G>T (p.Ser137Ile)
|
rs1668699972
|
|
|
NM_000179.3(MSH6):c.412C>T (p.Pro138Ser)
|
rs1668700091
|
|
|
NM_000179.3(MSH6):c.415A>G (p.Thr139Ala)
|
rs991924818
|
|
|
NM_000179.3(MSH6):c.416C>T (p.Thr139Ile)
|
rs1443147770
|
|
|
NM_000179.3(MSH6):c.418A>G (p.Arg140Gly)
|
|
|
|
NM_000179.3(MSH6):c.419G>A (p.Arg140Lys)
|
|
|
|
NM_000179.3(MSH6):c.419G>T (p.Arg140Met)
|
rs876661293
|
|
|
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)
|
rs863224628
|
|
|
NM_000179.3(MSH6):c.422G>A (p.Gly141Asp)
|
rs2104110549
|
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
|
NM_000179.3(MSH6):c.424T>A (p.Trp142Arg)
|
|
|
|
NM_000179.3(MSH6):c.428T>G (p.Val143Gly)
|
rs1324188451
|
|
|
NM_000179.3(MSH6):c.42_43delinsAA (p.Pro15Thr)
|
rs1668112441
|
|
|
NM_000179.3(MSH6):c.430A>G (p.Ser144Gly)
|
rs1668701906
|
|
|
NM_000179.3(MSH6):c.431G>C (p.Ser144Thr)
|
|
|
|
NM_000179.3(MSH6):c.432C>T (p.Ser144=)
|
rs1046304919
|
|
|
NM_000179.3(MSH6):c.434A>G (p.Lys145Arg)
|
|
|
|
NM_000179.3(MSH6):c.437G>A (p.Arg146Lys)
|
rs1553410372
|
|
|
NM_000179.3(MSH6):c.438G>C (p.Arg146Ser)
|
rs2104111549
|
|
|
NM_000179.3(MSH6):c.439C>T (p.Leu147Phe)
|
rs2104111618
|
|
|
NM_000179.3(MSH6):c.43C>G (p.Pro15Ala)
|
rs776745497
|
|
|
NM_000179.3(MSH6):c.43C>T (p.Pro15Ser)
|
rs776745497
|
|
|
NM_000179.3(MSH6):c.440T>G (p.Leu147Arg)
|
|
|
|
NM_000179.3(MSH6):c.442T>C (p.Leu148=)
|
rs2104111846
|
|
|
NM_000179.3(MSH6):c.445A>C (p.Lys149Gln)
|
rs1668702984
|
|
|
NM_000179.3(MSH6):c.447G>C (p.Lys149Asn)
|
rs1553410379
|
|
|
NM_000179.3(MSH6):c.448C>G (p.Pro150Ala)
|
|
|
|
NM_000179.3(MSH6):c.448C>T (p.Pro150Ser)
|
rs587782406
|
|
|
NM_000179.3(MSH6):c.449C>T (p.Pro150Leu)
|
rs757311007
|
|
|
NM_000179.3(MSH6):c.451T>A (p.Tyr151Asn)
|
rs1060502904
|
|
|
NM_000179.3(MSH6):c.452A>G (p.Tyr151Cys)
|
|
|
|
NM_000179.3(MSH6):c.455C>A (p.Thr152Lys)
|
rs1553410385
|
|
|
NM_000179.3(MSH6):c.455C>T (p.Thr152Ile)
|
rs1553410385
|
|
|
NM_000179.3(MSH6):c.457+2dup
|
rs876661224
|
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
|
NM_000179.3(MSH6):c.457+6A>T
|
|
|
|
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
|
NM_000179.3(MSH6):c.458-3T>A
|
rs1558656394
|
|
|
NM_000179.3(MSH6):c.458-3T>G
|
rs1558656394
|
|
|
NM_000179.3(MSH6):c.458G>C (p.Gly153Ala)
|
rs1251899870
|
|
|
NM_000179.3(MSH6):c.458G>T (p.Gly153Val)
|
rs1251899870
|
|
|
NM_000179.3(MSH6):c.460T>C (p.Ser154Pro)
|
rs1669051626
|
|
|
NM_000179.3(MSH6):c.463A>C (p.Lys155Gln)
|
rs1276159036
|
|
|
NM_000179.3(MSH6):c.463A>G (p.Lys155Glu)
|
rs1276159036
|
|
|
NM_000179.3(MSH6):c.466T>G (p.Ser156Ala)
|
|
|
|
NM_000179.3(MSH6):c.467C>T (p.Ser156Leu)
|
rs63749873
|
|
|
NM_000179.3(MSH6):c.469A>C (p.Lys157Gln)
|
rs1572716094
|
|
|
NM_000179.3(MSH6):c.469A>G (p.Lys157Glu)
|
rs1572716094
|
|
|
NM_000179.3(MSH6):c.46G>A (p.Ala16Thr)
|
|
|
|
NM_000179.3(MSH6):c.470A>G (p.Lys157Arg)
|
|
|
|
NM_000179.3(MSH6):c.470A>T (p.Lys157Met)
|
rs1060502923
|
|
|
NM_000179.3(MSH6):c.473A>G (p.Glu158Gly)
|
rs1669052883
|
|
|
NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)
|
rs1553411396
|
|
|
NM_000179.3(MSH6):c.475G>T (p.Ala159Ser)
|
rs1553411396
|
|
|
NM_000179.3(MSH6):c.476C>G (p.Ala159Gly)
|
rs587778528
|
|
|
NM_000179.3(MSH6):c.478C>A (p.Gln160Lys)
|
|
|
|
NM_000179.3(MSH6):c.479A>C (p.Gln160Pro)
|
rs1553411397
|
|
|
NM_000179.3(MSH6):c.479A>G (p.Gln160Arg)
|
rs1553411397
|
|
|
NM_000179.3(MSH6):c.479A>T (p.Gln160Leu)
|
rs1553411397
|
|
|
NM_000179.3(MSH6):c.47C>A (p.Ala16Glu)
|
rs759501511
|
|
|
NM_000179.3(MSH6):c.481A>G (p.Lys161Glu)
|
|
|
|
NM_000179.3(MSH6):c.484G>A (p.Gly162Arg)
|
rs1183989693
|
|
|
NM_000179.3(MSH6):c.484G>C (p.Gly162Arg)
|
|
|
|
NM_000179.3(MSH6):c.485G>A (p.Gly162Glu)
|
|
|
|
NM_000179.3(MSH6):c.485G>C (p.Gly162Ala)
|
rs876660583
|
|
|
NM_000179.3(MSH6):c.487G>T (p.Gly163Cys)
|
rs776065389
|
|
|
NM_000179.3(MSH6):c.490C>A (p.His164Asn)
|
|
|
|
NM_000179.3(MSH6):c.490C>G (p.His164Asp)
|
rs568685193
|
|
|
NM_000179.3(MSH6):c.490C>T (p.His164Tyr)
|
|
|
|
NM_000179.3(MSH6):c.491A>G (p.His164Arg)
|
|
|
|
NM_000179.3(MSH6):c.491A>T (p.His164Leu)
|
rs146469162
|
|
|
NM_000179.3(MSH6):c.496T>C (p.Tyr166His)
|
|
|
|
NM_000179.3(MSH6):c.496_497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTATTTTAAGGGAGGTCATTTTT (p.Phe165_Tyr166insPhePhePhePhePhePhePhePhePhePhePheLeuPhePhePheIlePheTyrPheLysGlyGlyHisPhe)
|
|
|
|
NM_000179.3(MSH6):c.497A>G (p.Tyr166Cys)
|
rs1669056194
|
|
|
NM_000179.3(MSH6):c.499A>C (p.Ser167Arg)
|
|
|
|
NM_000179.3(MSH6):c.499A>G (p.Ser167Gly)
|
rs2104231027
|
|
|
NM_000179.3(MSH6):c.49C>G (p.Leu17Val)
|
|
|
|
NM_000179.3(MSH6):c.500G>A (p.Ser167Asn)
|
|
|
|
NM_000179.3(MSH6):c.500G>C (p.Ser167Thr)
|
rs1669056436
|
|
|
NM_000179.3(MSH6):c.502G>A (p.Ala168Thr)
|
|
|
|
NM_000179.3(MSH6):c.503C>T (p.Ala168Val)
|
rs774162322
|
|
|
NM_000179.3(MSH6):c.505A>G (p.Lys169Glu)
|
rs761721805
|
|
|
NM_000179.3(MSH6):c.507_508delinsTA (p.Lys169_Pro170delinsAsnThr)
|
rs2104231712
|
|
|
NM_000179.3(MSH6):c.508C>T (p.Pro170Ser)
|
rs878853748
|
|
|
NM_000179.3(MSH6):c.50T>C (p.Leu17Pro)
|
rs1553408119
|
|
|
NM_000179.3(MSH6):c.511G>A (p.Glu171Lys)
|
rs1558656518
|
|
|
NM_000179.3(MSH6):c.513A>G (p.Glu171=)
|
rs786201116
|
|
|
NM_000179.3(MSH6):c.514A>G (p.Ile172Val)
|
|
|
|
NM_000179.3(MSH6):c.515T>A (p.Ile172Lys)
|
|
|
|
NM_000179.3(MSH6):c.515T>C (p.Ile172Thr)
|
rs587779942
|
|
|
NM_000179.3(MSH6):c.517C>G (p.Leu173Val)
|
rs1553411421
|
|
|
NM_000179.3(MSH6):c.520A>G (p.Arg174Gly)
|
rs1405000889
|
|
|
NM_000179.3(MSH6):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_000179.3(MSH6):c.524C>A (p.Ala175Glu)
|
rs1060502929
|
|
|
NM_000179.3(MSH6):c.524C>G (p.Ala175Gly)
|
rs1060502929
|
|
|
NM_000179.3(MSH6):c.524C>T (p.Ala175Val)
|
rs1060502929
|
|
|
NM_000179.3(MSH6):c.526A>G (p.Met176Val)
|
rs750327994
|
|
|
NM_000179.3(MSH6):c.526A>T (p.Met176Leu)
|
rs750327994
|
|
|
NM_000179.3(MSH6):c.527T>C (p.Met176Thr)
|
rs1553411432
|
|
|
NM_000179.3(MSH6):c.52A>C (p.Ser18Arg)
|
rs1553408122
|
|
|
NM_000179.3(MSH6):c.531A>T (p.Gln177His)
|
rs886056142
|
|
|
NM_000179.3(MSH6):c.532C>A (p.Arg178Ser)
|
rs730881813
|
|
|
NM_000179.3(MSH6):c.532C>G (p.Arg178Gly)
|
|
|
|
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser)
|
rs587781817
|
|
|
NM_000179.3(MSH6):c.538G>A (p.Asp180Asn)
|
rs1553411440
|
|
|
NM_000179.3(MSH6):c.538G>C (p.Asp180His)
|
|
|
|
NM_000179.3(MSH6):c.53G>A (p.Ser18Asn)
|
|
|
|
NM_000179.3(MSH6):c.540T>A (p.Asp180Glu)
|
rs1800935
|
|
|
NM_000179.3(MSH6):c.540T>G (p.Asp180Glu)
|
rs1800935
|
|
|
NM_000179.3(MSH6):c.540_541inv (p.Glu181Lys)
|
|
|
|
NM_000179.3(MSH6):c.542A>T (p.Glu181Val)
|
rs1558656620
|
|
|
NM_000179.3(MSH6):c.544G>T (p.Ala182Ser)
|
|
|
|
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)
|
rs876659786
|
|
|
NM_000179.3(MSH6):c.551A>G (p.Asn184Ser)
|
rs1669062226
|
|
|
NM_000179.3(MSH6):c.552T>G (p.Asn184Lys)
|
rs786203679
|
|
|
NM_000179.3(MSH6):c.553A>G (p.Lys185Glu)
|
rs193922344
|
|
|
NM_000179.3(MSH6):c.554A>T (p.Lys185Ile)
|
rs2104235423
|
|
|
NM_000179.3(MSH6):c.554_562dup (p.Lys187_Ile188insLysAspLys)
|
|
|
|
NM_000179.3(MSH6):c.555A>C (p.Lys185Asn)
|
rs1558656651
|
|
|
NM_000179.3(MSH6):c.556G>C (p.Asp186His)
|
rs1212607928
|
|
|
NM_000179.3(MSH6):c.556G>T (p.Asp186Tyr)
|
rs1212607928
|
|
|
NM_000179.3(MSH6):c.55_56delinsTT (p.Asp19Phe)
|
rs1572697844
|
|
|
NM_000179.3(MSH6):c.560A>G (p.Lys187Arg)
|
rs1553411459
|
|
|
NM_000179.3(MSH6):c.562A>T (p.Ile188Phe)
|
rs1669063357
|
|
|
NM_000179.3(MSH6):c.564T>G (p.Ile188Met)
|
rs1558656660
|
|
|
NM_000179.3(MSH6):c.565A>G (p.Lys189Glu)
|
|
|
|
NM_000179.3(MSH6):c.566A>G (p.Lys189Arg)
|
rs1060502889
|
|
|
NM_000179.3(MSH6):c.567G>C (p.Lys189Asn)
|
rs2104236539
|
|
|
NM_000179.3(MSH6):c.569G>A (p.Arg190Lys)
|
|
|
|
NM_000179.3(MSH6):c.56A>G (p.Asp19Gly)
|
rs1553408133
|
|
|
NM_000179.3(MSH6):c.571C>T (p.Leu191Phe)
|
rs1669064280
|
|
|
NM_000179.3(MSH6):c.577T>G (p.Leu193Val)
|
rs587779944
|
|
|
NM_000179.3(MSH6):c.57T>A (p.Asp19Glu)
|
rs752794296
|
|
|
NM_000179.3(MSH6):c.581C>G (p.Ala194Gly)
|
rs1558656693
|
|
|
NM_000179.3(MSH6):c.581C>T (p.Ala194Val)
|
rs1558656693
|
|
|
NM_000179.3(MSH6):c.583G>C (p.Val195Leu)
|
rs267608038
|
|
|
NM_000179.3(MSH6):c.584T>A (p.Val195Asp)
|
rs1553411480
|
|
|
NM_000179.3(MSH6):c.585T>G (p.Val195=)
|
|
|
|
NM_000179.3(MSH6):c.587G>A (p.Cys196Tyr)
|
rs78939940
|
|
|
NM_000179.3(MSH6):c.587G>T (p.Cys196Phe)
|
rs78939940
|
|
|
NM_000179.3(MSH6):c.589G>A (p.Asp197Asn)
|
rs148517241
|
|
|
NM_000179.3(MSH6):c.589G>C (p.Asp197His)
|
rs148517241
|
|
|
NM_000179.3(MSH6):c.590A>G (p.Asp197Gly)
|
rs1553411488
|
|
|
NM_000179.3(MSH6):c.590A>T (p.Asp197Val)
|
|
|
|
NM_000179.3(MSH6):c.592G>A (p.Glu198Lys)
|
rs1553411490
|
|
|
NM_000179.3(MSH6):c.596C>T (p.Pro199Leu)
|
rs587782315
|
|
|
NM_000179.3(MSH6):c.599C>T (p.Ser200Leu)
|
|
|
|
NM_000179.3(MSH6):c.604C>G (p.Pro202Ala)
|
rs1064794301
|
|
|
NM_000179.3(MSH6):c.604_612del (p.Pro202_Glu204del)
|
rs1669066494
|
|
|
NM_000179.3(MSH6):c.605C>G (p.Pro202Arg)
|
rs367644746
|
|
|
NM_000179.3(MSH6):c.605C>T (p.Pro202Leu)
|
rs367644746
|
|
|
NM_000179.3(MSH6):c.609A>T (p.Glu203Asp)
|
rs536686679
|
|
|
NM_000179.3(MSH6):c.610G>C (p.Glu204Gln)
|
|
|
|
NM_000179.3(MSH6):c.613G>A (p.Glu205Lys)
|
rs1669067746
|
|
|
NM_000179.3(MSH6):c.615A>C (p.Glu205Asp)
|
rs1334827373
|
|
|
NM_000179.3(MSH6):c.616G>A (p.Glu206Lys)
|
|
|
|
NM_000179.3(MSH6):c.618A>C (p.Glu206Asp)
|
|
|
|
NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)
|
rs1223476490
|
|
|
NM_000179.3(MSH6):c.621G>C (p.Glu207Asp)
|
rs1553411509
|
|
|
NM_000179.3(MSH6):c.621G>T (p.Glu207Asp)
|
rs1553411509
|
|
|
NM_000179.3(MSH6):c.622A>G (p.Met208Val)
|
rs369058374
|
|
|
NM_000179.3(MSH6):c.625G>A (p.Glu209Lys)
|
|
|
|
NM_000179.3(MSH6):c.625G>C (p.Glu209Gln)
|
rs747477669
|
|
|
NM_000179.3(MSH6):c.627+11G>A
|
|
|
|
NM_000179.3(MSH6):c.627+12C>T
|
|
|
|
NM_000179.3(MSH6):c.627+14A>C
|
|
|
|
NM_000179.3(MSH6):c.627+26_627+37del
|
rs1558656848
|
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
|
NM_000179.3(MSH6):c.627+3G>C
|
rs876659495
|
|
|
NM_000179.3(MSH6):c.627+4G>A
|
|
|
|
NM_000179.3(MSH6):c.627+4G>C
|
|
|
|
NM_000179.3(MSH6):c.627+5G>A
|
rs2104241590
|
|
|
NM_000179.3(MSH6):c.627+5G>C
|
rs2104241590
|
|
|
NM_000179.3(MSH6):c.627+6A>T
|
rs1572716556
|
|
|
NM_000179.3(MSH6):c.628-13C>G
|
rs538280815
|
|
|
NM_000179.3(MSH6):c.628G>A (p.Val210Ile)
|
|
|
|
NM_000179.3(MSH6):c.628G>C (p.Val210Leu)
|
|
|
|
NM_000179.3(MSH6):c.628G>T (p.Val210Leu)
|
rs936063254
|
|
|
NM_000179.3(MSH6):c.629T>C (p.Val210Ala)
|
rs201431515
|
|
|
NM_000179.3(MSH6):c.62A>G (p.Asn21Ser)
|
rs267608025
|
|
|
NM_000179.3(MSH6):c.630A>G (p.Val210=)
|
|
|
|
NM_000179.3(MSH6):c.631G>A (p.Gly211Ser)
|
rs786204153
|
|
|
NM_000179.3(MSH6):c.632G>A (p.Gly211Asp)
|
rs2104287413
|
|
|
NM_000179.3(MSH6):c.632G>T (p.Gly211Val)
|
|
|
|
NM_000179.3(MSH6):c.633C>T (p.Gly211=)
|
rs1572719729
|
|
|
NM_000179.3(MSH6):c.635C>T (p.Thr212Ile)
|
rs876659637
|
|
|
NM_000179.3(MSH6):c.638C>G (p.Thr213Ser)
|
rs2104287733
|
|
|
NM_000179.3(MSH6):c.639_647del (p.Tyr214_Thr216del)
|
rs1553412048
|
|
|
NM_000179.3(MSH6):c.63C>G (p.Asn21Lys)
|
rs876660097
|
|
|
NM_000179.3(MSH6):c.640_642del (p.Tyr214del)
|
rs2104287851
|
|
|
NM_000179.3(MSH6):c.642_643delinsTA (p.Val215Ile)
|
rs1669239621
|
|
|
NM_000179.3(MSH6):c.643G>T (p.Val215Leu)
|
rs145959653
|
|
|
NM_000179.3(MSH6):c.646A>G (p.Thr216Ala)
|
|
|
|
NM_000179.3(MSH6):c.648_649delinsTT (p.Asp217Tyr)
|
rs63750471
|
|
|
NM_000179.3(MSH6):c.649G>C (p.Asp217His)
|
rs950036621
|
|
|
NM_000179.3(MSH6):c.64A>C (p.Lys22Gln)
|
rs1060502897
|
|
|
NM_000179.3(MSH6):c.64A>G (p.Lys22Glu)
|
rs1060502897
|
|
|
NM_000179.3(MSH6):c.650A>C (p.Asp217Ala)
|
|
|
|
NM_000179.3(MSH6):c.650A>T (p.Asp217Val)
|
|
|
|
NM_000179.3(MSH6):c.657T>A (p.Ser219Arg)
|
rs1460925251
|
|
|
NM_000179.3(MSH6):c.658G>A (p.Glu220Lys)
|
rs1669242062
|
|
|
NM_000179.3(MSH6):c.659A>C (p.Glu220Ala)
|
rs764478569
|
|
|
NM_000179.3(MSH6):c.65A>C (p.Lys22Thr)
|
rs1668115116
|
|
|
NM_000179.3(MSH6):c.660AGA[1] (p.Glu221del)
|
rs1669242170
|
|
|
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del)
|
rs1553412079
|
|
|
NM_000179.3(MSH6):c.663_664insTCA (p.Glu221_Asp222insSer)
|
|
|
|
NM_000179.3(MSH6):c.664G>A (p.Asp222Asn)
|
|
|
|
NM_000179.3(MSH6):c.664G>C (p.Asp222His)
|
rs1669243103
|
|
|
NM_000179.3(MSH6):c.664G>T (p.Asp222Tyr)
|
|
|
|
NM_000179.3(MSH6):c.665A>T (p.Asp222Val)
|
rs750827951
|
|
|
NM_000179.3(MSH6):c.666T>A (p.Asp222Glu)
|
rs1572719886
|
|
|
NM_000179.3(MSH6):c.668A>C (p.Asn223Thr)
|
|
|
|
NM_000179.3(MSH6):c.670G>A (p.Glu224Lys)
|
rs1060502933
|
|
|
NM_000179.3(MSH6):c.670G>C (p.Glu224Gln)
|
|
|
|
NM_000179.3(MSH6):c.671A>C (p.Glu224Ala)
|
|
|
|
NM_000179.3(MSH6):c.672_698del (p.Glu224_Pro233delinsAsp)
|
|
|
|
NM_000179.3(MSH6):c.673A>G (p.Ile225Val)
|
|
|
|
NM_000179.3(MSH6):c.673A>T (p.Ile225Phe)
|
|
|
|
NM_000179.3(MSH6):c.674T>G (p.Ile225Ser)
|
rs1553412096
|
|
|
NM_000179.3(MSH6):c.675T>G (p.Ile225Met)
|
rs572317219
|
|
|
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)
|
rs587781777
|
|
|
NM_000179.3(MSH6):c.679A>G (p.Ser227Gly)
|
rs786202905
|
|
|
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)
|
rs730881810
|
|
|
NM_000179.3(MSH6):c.67G>T (p.Ala23Ser)
|
rs730881810
|
|
|
NM_000179.3(MSH6):c.680G>A (p.Ser227Asn)
|
rs587779317
|
|
|
NM_000179.3(MSH6):c.680G>T (p.Ser227Ile)
|
rs587779317
|
|
|
NM_000179.3(MSH6):c.681T>G (p.Ser227Arg)
|
rs2104290784
|
|
|
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)
|
rs587779947
|
|
|
NM_000179.3(MSH6):c.683A>G (p.Glu228Gly)
|
|
|
|
NM_000179.3(MSH6):c.683A>T (p.Glu228Val)
|
|
|
|
NM_000179.3(MSH6):c.686A>G (p.Glu229Gly)
|
rs587782591
|
|
|
NM_000179.3(MSH6):c.689A>C (p.Glu230Ala)
|
rs2104291254
|
|
|
NM_000179.3(MSH6):c.68C>A (p.Ala23Asp)
|
rs1060502912
|
|
|
NM_000179.3(MSH6):c.68C>G (p.Ala23Gly)
|
rs1060502912
|
|
|
NM_000179.3(MSH6):c.68C>T (p.Ala23Val)
|
rs1060502912
|
|
|
NM_000179.3(MSH6):c.691G>A (p.Val231Ile)
|
rs1572719960
|
|
|
NM_000179.3(MSH6):c.691G>C (p.Val231Leu)
|
rs1572719960
|
|
|
NM_000179.3(MSH6):c.694C>G (p.Gln232Glu)
|
rs587779318
|
|
|
NM_000179.3(MSH6):c.697C>T (p.Pro233Ser)
|
rs2104291771
|
|
|
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)
|
rs142949377
|
|
|
NM_000179.3(MSH6):c.698C>T (p.Pro233Leu)
|
rs142949377
|
|
|
NM_000179.3(MSH6):c.703A>G (p.Thr235Ala)
|
rs1669246481
|
|
|
NM_000179.3(MSH6):c.704C>G (p.Thr235Arg)
|
rs1553412133
|
|
|
NM_000179.3(MSH6):c.706C>A (p.Gln236Lys)
|
rs63750996
|
|
|
NM_000179.3(MSH6):c.706C>G (p.Gln236Glu)
|
rs63750996
|
|
|
NM_000179.3(MSH6):c.707A>G (p.Gln236Arg)
|
rs1669246932
|
|
|
NM_000179.3(MSH6):c.708A>C (p.Gln236His)
|
rs1322117538
|
|
|
NM_000179.3(MSH6):c.709G>A (p.Gly237Arg)
|
rs1424907900
|
|
|
NM_000179.3(MSH6):c.712T>C (p.Ser238Pro)
|
rs1669247534
|
|
|
NM_000179.3(MSH6):c.713C>G (p.Ser238Cys)
|
rs587782510
|
|
|
NM_000179.3(MSH6):c.718C>G (p.Arg240Gly)
|
rs63750019
|
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
|
NM_000179.3(MSH6):c.719G>T (p.Arg240Leu)
|
rs542848931
|
|
|
NM_000179.3(MSH6):c.71C>G (p.Ser24Trp)
|
|
|
|
NM_000179.3(MSH6):c.71C>T (p.Ser24Leu)
|
rs786201684
|
|
|
NM_000179.3(MSH6):c.721A>G (p.Ser241Gly)
|
rs769962086
|
|
|
NM_000179.3(MSH6):c.722G>A (p.Ser241Asn)
|
rs1060502906
|
|
|
NM_000179.3(MSH6):c.722G>C (p.Ser241Thr)
|
rs1060502906
|
|
|
NM_000179.3(MSH6):c.724A>G (p.Ser242Gly)
|
rs2104293692
|
|
|
NM_000179.3(MSH6):c.725G>A (p.Ser242Asn)
|
rs1060502925
|
|
|
NM_000179.3(MSH6):c.725G>C (p.Ser242Thr)
|
rs1060502925
|
|
|
NM_000179.3(MSH6):c.725G>T (p.Ser242Ile)
|
|
|
|
NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)
|
rs1553412151
|
|
|
NM_000179.3(MSH6):c.726C>G (p.Ser242Arg)
|
rs1553412151
|
|
|
NM_000179.3(MSH6):c.727C>A (p.Arg243Ser)
|
rs377216828
|
|
|
NM_000179.3(MSH6):c.732A>C (p.Gln244His)
|
rs774496371
|
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
|
NM_000179.3(MSH6):c.735A>G (p.Ile245Met)
|
rs2104294265
|
|
|
NM_000179.3(MSH6):c.73G>C (p.Ala25Pro)
|
rs267608026
|
|
|
NM_000179.3(MSH6):c.740A>C (p.Lys247Thr)
|
|
|
|
NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.743G>T (p.Arg248Leu)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.744_746del (p.Arg249del)
|
rs1553412174
|
|
|
NM_000179.3(MSH6):c.746G>C (p.Arg249Thr)
|
rs752135996
|
|
|
NM_000179.3(MSH6):c.748G>C (p.Val250Leu)
|
|
|
|
NM_000179.3(MSH6):c.749T>A (p.Val250Asp)
|
|
|
|
NM_000179.3(MSH6):c.74C>A (p.Ala25Asp)
|
|
|
|
NM_000179.3(MSH6):c.74C>G (p.Ala25Gly)
|
rs35462442
|
|
|
NM_000179.3(MSH6):c.74C>T (p.Ala25Val)
|
rs35462442
|
|
|
NM_000179.3(MSH6):c.751A>C (p.Ile251Leu)
|
rs554884560
|
|
|
NM_000179.3(MSH6):c.751A>T (p.Ile251Leu)
|
rs554884560
|
|
|
NM_000179.3(MSH6):c.753A>G (p.Ile251Met)
|
rs587779321
|
|
|
NM_000179.3(MSH6):c.754T>C (p.Ser252Pro)
|
rs746623981
|
|
|
NM_000179.3(MSH6):c.757G>C (p.Asp253His)
|
rs2104295794
|
|
|
NM_000179.3(MSH6):c.757G>T (p.Asp253Tyr)
|
rs2104295794
|
|
|
NM_000179.3(MSH6):c.758A>C (p.Asp253Ala)
|
rs2104295851
|
|
|
NM_000179.3(MSH6):c.761C>G (p.Ser254Cys)
|
rs876659191
|
|
|
NM_000179.3(MSH6):c.763G>A (p.Glu255Lys)
|
rs876661129
|
|
|
NM_000179.3(MSH6):c.764A>G (p.Glu255Gly)
|
rs1669253855
|
|
|
NM_000179.3(MSH6):c.764_765delinsGA (p.Glu255Gly)
|
rs1669253958
|
|
|
NM_000179.3(MSH6):c.767G>A (p.Ser256Asn)
|
rs1553412194
|
|
|
NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)
|
rs757622849
|
|
|
NM_000179.3(MSH6):c.772A>G (p.Ile258Val)
|
rs786202565
|
|
|
NM_000179.3(MSH6):c.772_774dup (p.Ile258_Gly259insIle)
|
|
|
|
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr)
|
rs1553412195
|
|
|
NM_000179.3(MSH6):c.773T>G (p.Ile258Ser)
|
rs1553412195
|
|
|
NM_000179.3(MSH6):c.774T>G (p.Ile258Met)
|
rs1669254639
|
|
|
NM_000179.3(MSH6):c.775G>T (p.Gly259Cys)
|
rs1553412198
|
|
|
NM_000179.3(MSH6):c.776G>C (p.Gly259Ala)
|
rs1404814811
|
|
|
NM_000179.3(MSH6):c.776G>T (p.Gly259Val)
|
rs1404814811
|
|
|
NM_000179.3(MSH6):c.779G>A (p.Gly260Asp)
|
|
|
|
NM_000179.3(MSH6):c.77G>C (p.Arg26Thr)
|
rs1472227590
|
|
|
NM_000179.3(MSH6):c.782C>G (p.Ser261Cys)
|
rs876661250
|
|
|
NM_000179.3(MSH6):c.782C>T (p.Ser261Phe)
|
rs876661250
|
|
|
NM_000179.3(MSH6):c.784G>T (p.Asp262Tyr)
|
|
|
|
NM_000179.3(MSH6):c.785A>G (p.Asp262Gly)
|
rs1572720347
|
|
|
NM_000179.3(MSH6):c.787G>A (p.Val263Met)
|
rs1064794127
|
|
|
NM_000179.3(MSH6):c.787G>C (p.Val263Leu)
|
rs1064794127
|
|
|
NM_000179.3(MSH6):c.787G>T (p.Val263Leu)
|
rs1064794127
|
|
|
NM_000179.3(MSH6):c.78G>T (p.Arg26Ser)
|
rs1395190094
|
|
|
NM_000179.3(MSH6):c.791A>C (p.Glu264Ala)
|
|
|
|
NM_000179.3(MSH6):c.799C>G (p.Pro267Ala)
|
rs1301670893
|
|
|
NM_000179.3(MSH6):c.7C>G (p.Arg3Gly)
|
rs1553408074
|
|
|
NM_000179.3(MSH6):c.802G>A (p.Asp268Asn)
|
|
|
|
NM_000179.3(MSH6):c.802G>C (p.Asp268His)
|
rs1553412217
|
|
|
NM_000179.3(MSH6):c.802G>T (p.Asp268Tyr)
|
rs1553412217
|
|
|
NM_000179.3(MSH6):c.803A>C (p.Asp268Ala)
|
rs2104298516
|
|
|
NM_000179.3(MSH6):c.805A>G (p.Thr269Ala)
|
rs1553412223
|
|
|
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)
|
rs587779322
|
|
|
NM_000179.3(MSH6):c.808A>C (p.Lys270Gln)
|
rs1669257647
|
|
|
NM_000179.3(MSH6):c.808A>G (p.Lys270Glu)
|
|
|
|
NM_000179.3(MSH6):c.808_810del (p.Lys270del)
|
rs1669257767
|
|
|
NM_000179.3(MSH6):c.809A>G (p.Lys270Arg)
|
rs200898010
|
|
|
NM_000179.3(MSH6):c.809A>T (p.Lys270Met)
|
rs200898010
|
|
|
NM_000179.3(MSH6):c.80C>A (p.Ala27Asp)
|
rs1668116728
|
|
|
NM_000179.3(MSH6):c.80C>T (p.Ala27Val)
|
rs1668116728
|
|
|
NM_000179.3(MSH6):c.810GGA[1] (p.Glu272del)
|
rs786203409
|
|
|
NM_000179.3(MSH6):c.811G>A (p.Glu271Lys)
|
|
|
|
NM_000179.3(MSH6):c.811G>C (p.Glu271Gln)
|
|
|
|
NM_000179.3(MSH6):c.815A>C (p.Glu272Ala)
|
rs2104299198
|
|
|
NM_000179.3(MSH6):c.816A>C (p.Glu272Asp)
|
rs863224631
|
|
|
NM_000179.3(MSH6):c.817G>A (p.Gly273Arg)
|
rs587779948
|
|
|
NM_000179.3(MSH6):c.818G>A (p.Gly273Glu)
|
rs769610487
|
|
|
NM_000179.3(MSH6):c.818G>C (p.Gly273Ala)
|
rs769610487
|
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
|
NM_000179.3(MSH6):c.820A>G (p.Ser274Gly)
|
rs1572720447
|
|
|
NM_000179.3(MSH6):c.821G>C (p.Ser274Thr)
|
rs587779949
|
|
|
NM_000179.3(MSH6):c.823A>G (p.Ser275Gly)
|
rs2104299674
|
|
|
NM_000179.3(MSH6):c.826G>A (p.Asp276Asn)
|
rs1669259746
|
|
|
NM_000179.3(MSH6):c.82T>C (p.Ser28Pro)
|
rs1223620783
|
|
|
NM_000179.3(MSH6):c.82T>G (p.Ser28Ala)
|
rs1223620783
|
|
|
NM_000179.3(MSH6):c.832A>G (p.Ile278Val)
|
rs1572720474
|
|
|
NM_000179.3(MSH6):c.833T>A (p.Ile278Lys)
|
rs876658406
|
|
|
NM_000179.3(MSH6):c.833T>C (p.Ile278Thr)
|
rs876658406
|
|
|
NM_000179.3(MSH6):c.836G>T (p.Ser279Ile)
|
rs876661292
|
|
|
NM_000179.3(MSH6):c.837C>A (p.Ser279Arg)
|
rs1558659436
|
|
|
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly)
|
rs1558659442
|
|
|
NM_000179.3(MSH6):c.839G>A (p.Ser280Asn)
|
rs1669261078
|
|
|
NM_000179.3(MSH6):c.842G>A (p.Gly281Glu)
|
rs773445382
|
|
|
NM_000179.3(MSH6):c.842G>C (p.Gly281Ala)
|
rs773445382
|
|
|
NM_000179.3(MSH6):c.842G>T (p.Gly281Val)
|
rs773445382
|
|
|
NM_000179.3(MSH6):c.844G>A (p.Val282Met)
|
rs1572720532
|
|
|
NM_000179.3(MSH6):c.844G>T (p.Val282Leu)
|
rs1572720532
|
|
|
NM_000179.3(MSH6):c.847G>C (p.Gly283Arg)
|
|
|
|
NM_000179.3(MSH6):c.848G>C (p.Gly283Ala)
|
rs1669262436
|
|
|
NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly)
|
|
|
|
NM_000179.3(MSH6):c.850G>A (p.Asp284Asn)
|
rs1553412286
|
|
|
NM_000179.3(MSH6):c.850G>C (p.Asp284His)
|
rs1553412286
|
|
|
NM_000179.3(MSH6):c.850G>T (p.Asp284Tyr)
|
rs1553412286
|
|
|
NM_000179.3(MSH6):c.853A>G (p.Ser285Gly)
|
rs876660204
|
|
|
NM_000179.3(MSH6):c.854G>A (p.Ser285Asn)
|
|
|
|
NM_000179.3(MSH6):c.856G>C (p.Glu286Gln)
|
rs1057520605
|
|
|
NM_000179.3(MSH6):c.857A>C (p.Glu286Ala)
|
rs2104301989
|
|
|
NM_000179.3(MSH6):c.85C>G (p.Arg29Gly)
|
rs756589186
|
|
|
NM_000179.3(MSH6):c.85C>T (p.Arg29Cys)
|
rs756589186
|
|
|
NM_000179.3(MSH6):c.860G>A (p.Ser287Asn)
|
rs876660299
|
|
|
NM_000179.3(MSH6):c.860G>C (p.Ser287Thr)
|
rs876660299
|
|
|
NM_000179.3(MSH6):c.862G>A (p.Glu288Lys)
|
rs1669263931
|
|
|
NM_000179.3(MSH6):c.864A>T (p.Glu288Asp)
|
|
|
|
NM_000179.3(MSH6):c.865G>C (p.Gly289Arg)
|
rs1669264133
|
|
|
NM_000179.3(MSH6):c.866G>C (p.Gly289Ala)
|
rs368318845
|
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
|
NM_000179.3(MSH6):c.867C>T (p.Gly289=)
|
rs267608047
|
|
|
NM_000179.3(MSH6):c.869T>A (p.Leu290Gln)
|
|
|
|
NM_000179.3(MSH6):c.869T>G (p.Leu290Arg)
|
rs751309721
|
|
|
NM_000179.3(MSH6):c.86_87delinsCT (p.Arg29Pro)
|
|
|
|
NM_000179.3(MSH6):c.874A>G (p.Ser292Gly)
|
rs1669265158
|
|
|
NM_000179.3(MSH6):c.876C>G (p.Ser292Arg)
|
|
|
|
NM_000179.3(MSH6):c.878C>G (p.Pro293Arg)
|
rs1553412308
|
|
|
NM_000179.3(MSH6):c.878C>T (p.Pro293Leu)
|
rs1553412308
|
|
|
NM_000179.3(MSH6):c.880G>A (p.Val294Ile)
|
rs1553412313
|
|
|
NM_000179.3(MSH6):c.881T>A (p.Val294Asp)
|
rs1482153450
|
|
|
NM_000179.3(MSH6):c.883A>G (p.Lys295Glu)
|
rs373958499
|
|
|
NM_000179.3(MSH6):c.884A>C (p.Lys295Thr)
|
rs267608051
|
|
|
NM_000179.3(MSH6):c.884A>T (p.Lys295Ile)
|
rs267608051
|
|
|
NM_000179.3(MSH6):c.885A>T (p.Lys295Asn)
|
|
|
|
NM_000179.3(MSH6):c.886G>C (p.Val296Leu)
|
|
|
|
NM_000179.3(MSH6):c.886G>T (p.Val296Phe)
|
rs2104303975
|
|
|
NM_000179.3(MSH6):c.887T>C (p.Val296Ala)
|
rs1572720726
|
|
|
NM_000179.3(MSH6):c.887T>G (p.Val296Gly)
|
rs1572720726
|
|
|
NM_000179.3(MSH6):c.88G>A (p.Glu30Lys)
|
rs1445690889
|
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
|
NM_000179.3(MSH6):c.893G>C (p.Arg298Pro)
|
|
|
|
NM_000179.3(MSH6):c.895A>G (p.Lys299Glu)
|
rs1553412326
|
|
|
NM_000179.3(MSH6):c.896A>G (p.Lys299Arg)
|
|
|
|
NM_000179.3(MSH6):c.896A>T (p.Lys299Met)
|
|
|
|
NM_000179.3(MSH6):c.899G>C (p.Arg300Pro)
|
rs55760494
|
|
|
NM_000179.3(MSH6):c.899G>T (p.Arg300Leu)
|
rs55760494
|
|
|
NM_000179.3(MSH6):c.8G>A (p.Arg3Gln)
|
rs1553408078
|
|
|
NM_000179.3(MSH6):c.8G>C (p.Arg3Pro)
|
rs1553408078
|
|
|
NM_000179.3(MSH6):c.8G>T (p.Arg3Leu)
|
rs1553408078
|
|
|
NM_000179.3(MSH6):c.902A>C (p.Lys301Thr)
|
rs1572720800
|
|
|
NM_000179.3(MSH6):c.903G>C (p.Lys301Asn)
|
rs1553412337
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.905G>T (p.Arg302Ile)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.908T>C (p.Met303Thr)
|
rs1558659703
|
|
|
NM_000179.3(MSH6):c.909G>A (p.Met303Ile)
|
rs786201688
|
|
|
NM_000179.3(MSH6):c.909G>T (p.Met303Ile)
|
rs786201688
|
|
|
NM_000179.3(MSH6):c.911T>A (p.Val304Glu)
|
rs1481054050
|
|
|
NM_000179.3(MSH6):c.913A>G (p.Thr305Ala)
|
rs1572720858
|
|
|
NM_000179.3(MSH6):c.913A>T (p.Thr305Ser)
|
rs1572720858
|
|
|
NM_000179.3(MSH6):c.914C>A (p.Thr305Asn)
|
rs2104306041
|
|
|
NM_000179.3(MSH6):c.916G>A (p.Gly306Arg)
|
rs876659659
|
|
|
NM_000179.3(MSH6):c.919A>G (p.Asn307Asp)
|
rs1669270601
|
|
|
NM_000179.3(MSH6):c.922G>A (p.Gly308Ser)
|
rs370174372
|
|
|
NM_000179.3(MSH6):c.923G>A (p.Gly308Asp)
|
rs1553412354
|
|
|
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)
|
rs1553412354
|
|
|
NM_000179.3(MSH6):c.925T>C (p.Ser309Pro)
|
rs876659095
|
|
|
NM_000179.3(MSH6):c.926C>T (p.Ser309Phe)
|
rs544222338
|
|
|
NM_000179.3(MSH6):c.928C>G (p.Leu310Val)
|
rs1060502900
|
|
|
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg)
|
rs777302246
|
|
|
NM_000179.3(MSH6):c.92G>C (p.Gly31Ala)
|
|
|
|
NM_000179.3(MSH6):c.931A>C (p.Lys311Gln)
|
rs1323987464
|
|
|
NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)
|
rs1323987464
|
|
|
NM_000179.3(MSH6):c.933A>T (p.Lys311Asn)
|
rs730881785
|
|
|
NM_000179.3(MSH6):c.934A>G (p.Arg312Gly)
|
rs1669273687
|
|
|
NM_000179.3(MSH6):c.935G>C (p.Arg312Thr)
|
rs1669273799
|
|
|
NM_000179.3(MSH6):c.936_941del (p.Arg312_Lys313del)
|
rs1553412361
|
|
|
NM_000179.3(MSH6):c.938A>G (p.Lys313Arg)
|
rs753373644
|
|
|
NM_000179.3(MSH6):c.940A>C (p.Ser314Arg)
|
|
|
|
NM_000179.3(MSH6):c.942C>A (p.Ser314Arg)
|
rs150440246
|
|
|
NM_000179.3(MSH6):c.943T>C (p.Ser315Pro)
|
rs1167164970
|
|
|
NM_000179.3(MSH6):c.944C>T (p.Ser315Phe)
|
rs63750491
|
|
|
NM_000179.3(MSH6):c.946A>G (p.Arg316Gly)
|
|
|
|
NM_000179.3(MSH6):c.947G>T (p.Arg316Met)
|
|
|
|
NM_000179.3(MSH6):c.948G>C (p.Arg316Ser)
|
|
|
|
NM_000179.3(MSH6):c.949A>G (p.Lys317Glu)
|
rs1114167758
|
|
|
NM_000179.3(MSH6):c.94G>A (p.Gly32Ser)
|
rs776859837
|
|
|
NM_000179.3(MSH6):c.94G>C (p.Gly32Arg)
|
|
|
|
NM_000179.3(MSH6):c.950A>G (p.Lys317Arg)
|
rs876661282
|
|
|
NM_000179.3(MSH6):c.951G>C (p.Lys317Asn)
|
rs1572720985
|
|
|
NM_000179.3(MSH6):c.952G>A (p.Glu318Lys)
|
rs1114167763
|
|
|
NM_000179.3(MSH6):c.952G>C (p.Glu318Gln)
|
rs1114167763
|
|
|
NM_000179.3(MSH6):c.956C>G (p.Thr319Arg)
|
rs188252826
|
|
|
NM_000179.3(MSH6):c.958C>G (p.Pro320Ala)
|
rs754879198
|
|
|
NM_000179.3(MSH6):c.958C>T (p.Pro320Ser)
|
rs754879198
|
|
|
NM_000179.3(MSH6):c.959C>T (p.Pro320Leu)
|
rs779022657
|
|
|
NM_000179.3(MSH6):c.95G>T (p.Gly32Val)
|
rs771426932
|
|
|
NM_000179.3(MSH6):c.961T>C (p.Ser321Pro)
|
rs2104309335
|
|
|
NM_000179.3(MSH6):c.962C>T (p.Ser321Leu)
|
rs1472853525
|
|
|
NM_000179.3(MSH6):c.965C>T (p.Ala322Val)
|
rs1253844411
|
|
|
NM_000179.3(MSH6):c.968C>A (p.Thr323Asn)
|
rs777890307
|
|
|
NM_000179.3(MSH6):c.968C>G (p.Thr323Ser)
|
rs777890307
|
|
|
NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)
|
rs1558659961
|
|
|
NM_000179.3(MSH6):c.971A>T (p.Lys324Ile)
|
|
|
|
NM_000179.3(MSH6):c.974A>G (p.Gln325Arg)
|
|
|
|
NM_000179.3(MSH6):c.974A>T (p.Gln325Leu)
|
rs1669278862
|
|
|
NM_000179.3(MSH6):c.979A>C (p.Thr327Pro)
|
rs730881814
|
|
|
NM_000179.3(MSH6):c.97C>A (p.Arg33Ser)
|
rs730881811
|
|
|
NM_000179.3(MSH6):c.97C>G (p.Arg33Gly)
|
rs730881811
|
|
|
NM_000179.3(MSH6):c.97C>T (p.Arg33Cys)
|
rs730881811
|
|
|
NM_000179.3(MSH6):c.980C>A (p.Thr327Asn)
|
rs369568820
|
|
|
NM_000179.3(MSH6):c.982A>G (p.Ser328Gly)
|
rs1572721137
|
|
|
NM_000179.3(MSH6):c.983G>C (p.Ser328Thr)
|
rs1060502879
|
|
|
NM_000179.3(MSH6):c.983G>T (p.Ser328Ile)
|
rs1060502879
|
|
|
NM_000179.3(MSH6):c.984C>G (p.Ser328Arg)
|
rs138143769
|
|
|
NM_000179.3(MSH6):c.985A>C (p.Ile329Leu)
|
rs1669280227
|
|
|
NM_000179.3(MSH6):c.986T>C (p.Ile329Thr)
|
|
|
|
NM_000179.3(MSH6):c.988T>C (p.Ser330Pro)
|
rs770408023
|
|
|
NM_000179.3(MSH6):c.989C>T (p.Ser330Leu)
|
rs786202848
|
|
|
NM_000179.3(MSH6):c.98G>T (p.Arg33Leu)
|
rs878853751
|
|
|
NM_000179.3(MSH6):c.991T>A (p.Ser331Thr)
|
|
|
|
NM_000179.3(MSH6):c.992C>T (p.Ser331Leu)
|
rs1669281225
|
|
|
NM_000179.3(MSH6):c.994G>A (p.Glu332Lys)
|
|
|
|
NM_000179.3(MSH6):c.997A>C (p.Thr333Pro)
|
rs886056143
|
|
|
NM_000179.3(MSH6):c.998C>G (p.Thr333Ser)
|
rs587781983
|
|
|
NM_000181.4(GUSB):c.1253T>G (p.Phe418Cys)
|
rs193920810
|
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
|
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)
|
rs1060502545
|
|
|
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)
|
rs1722933723
|
|
|
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)
|
rs773709702
|
|
|
NM_000222.3(KIT):c.302A>G (p.His101Arg)
|
rs1274601103
|
|
|
NM_000226.4(KRT9):c.1141G>T (p.Glu381Ter)
|
rs193920878
|
|
|
NM_000245.4(MET):c.*105C>A
|
rs886061945
|
|
|
NM_000245.4(MET):c.*1244G>T
|
rs144559852
|
|
|
NM_000245.4(MET):c.*1359T>C
|
rs1795712500
|
|
|
NM_000245.4(MET):c.*1460C>G
|
rs886061949
|
|
|
NM_000245.4(MET):c.*1809C>T
|
rs868554436
|
|
|
NM_000245.4(MET):c.*1882G>T
|
rs886061950
|
|
|
NM_000245.4(MET):c.*1909A>G
|
rs1795730503
|
|
|
NM_000245.4(MET):c.*1929A>G
|
rs1321841621
|
|
|
NM_000245.4(MET):c.*2134T>A
|
rs144156652
|
|
|
NM_000245.4(MET):c.*2147T>C
|
rs1795737615
|
|
|
NM_000245.4(MET):c.*2202G>T
|
rs14456
|
|
|
NM_000245.4(MET):c.*2245G>T
|
rs1447240969
|
|
|
NM_000245.4(MET):c.*27C>A
|
rs1795669540
|
|
|
NM_000245.4(MET):c.*2G>T
|
rs1795668471
|
|
|
NM_000245.4(MET):c.*359G>A
|
rs1795682838
|
|
|
NM_000245.4(MET):c.*422T>A
|
rs886061947
|
|
|
NM_000245.4(MET):c.*438T>A
|
rs955990225
|
|
|
NM_000245.4(MET):c.*480T>C
|
rs1207133647
|
|
|
NM_000245.4(MET):c.*493A>C
|
rs1795687373
|
|
|
NM_000245.4(MET):c.*786C>T
|
rs935854365
|
|
|
NM_000245.4(MET):c.*984C>T
|
rs573510587
|
|
|
NM_000245.4(MET):c.*995G>T
|
rs886061948
|
|
|
NM_000245.4(MET):c.-109C>T
|
rs1796009308
|
|
|
NM_000245.4(MET):c.-12_17del (p.Met1fs)
|
rs1562882716
|
|
|
NM_000245.4(MET):c.-157T>G
|
rs886061940
|
|
|
NM_000245.4(MET):c.-165C>G
|
rs886061939
|
|
|
NM_000245.4(MET):c.-180C>A
|
rs886061938
|
|
|
NM_000245.4(MET):c.-35C>G
|
rs1796012626
|
|
|
NM_000245.4(MET):c.1001G>A (p.Gly334Glu)
|
rs2116603002
|
|
|
NM_000245.4(MET):c.1008C>G (p.Ser336Arg)
|
rs1584878137
|
|
|
NM_000245.4(MET):c.1009C>A (p.Leu337Met)
|
rs1246936382
|
|
|
NM_000245.4(MET):c.100G>C (p.Glu34Gln)
|
rs764246939
|
|
|
NM_000245.4(MET):c.1010T>A (p.Leu337Gln)
|
rs2116603244
|
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
|
NM_000245.4(MET):c.1015G>A (p.Asp339Asn)
|
rs1463245808
|
|
|
NM_000245.4(MET):c.1018G>A (p.Asp340Asn)
|
rs769544894
|
|
|
NM_000245.4(MET):c.1018G>C (p.Asp340His)
|
rs769544894
|
|
|
NM_000245.4(MET):c.1021A>G (p.Ile341Val)
|
rs1791513686
|
|
|
NM_000245.4(MET):c.1021A>T (p.Ile341Phe)
|
|
|
|
NM_000245.4(MET):c.1024C>A (p.Leu342Ile)
|
|
|
|
NM_000245.4(MET):c.1024C>G (p.Leu342Val)
|
rs749082043
|
|
|
NM_000245.4(MET):c.1029C>A (p.Phe343Leu)
|
|
|
|
NM_000245.4(MET):c.1033G>A (p.Val345Met)
|
rs1232896056
|
|
|
NM_000245.4(MET):c.1033del (p.Val345fs)
|
rs1791514332
|
|
|
NM_000245.4(MET):c.1036T>C (p.Phe346Leu)
|
rs1791514789
|
|
|
NM_000245.4(MET):c.1039G>T (p.Ala347Ser)
|
|
|
|
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
|
|
|
|
NM_000245.4(MET):c.1046G>A (p.Ser349Asn)
|
rs1584878246
|
|
|
NM_000245.4(MET):c.1048A>C (p.Lys350Gln)
|
rs201191014
|
|
|
NM_000245.4(MET):c.1048A>G (p.Lys350Glu)
|
|
|
|
NM_000245.4(MET):c.104T>C (p.Met35Thr)
|
|
|
|
NM_000245.4(MET):c.1051C>G (p.Pro351Ala)
|
rs587782807
|
|
|
NM_000245.4(MET):c.1051C>T (p.Pro351Ser)
|
rs587782807
|
|
|
NM_000245.4(MET):c.1052C>T (p.Pro351Leu)
|
|
|
|
NM_000245.4(MET):c.1054G>A (p.Asp352Asn)
|
|
|
|
NM_000245.4(MET):c.1055A>T (p.Asp352Val)
|
|
|
|
NM_000245.4(MET):c.1056T>G (p.Asp352Glu)
|
rs2116604421
|
|
|
NM_000245.4(MET):c.1058C>T (p.Ser353Phe)
|
rs1791516755
|
|
|
NM_000245.4(MET):c.105G>A (p.Met35Ile)
|
rs376244358
|
|
|
NM_000245.4(MET):c.1063G>T (p.Glu355Ter)
|
rs561295443
|
|
|
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
|
|
|
|
NM_000245.4(MET):c.1066C>T (p.Pro356Ser)
|
|
|
|
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
|
|
|
|
NM_000245.4(MET):c.1069A>G (p.Met357Val)
|
rs1554379058
|
|
|
NM_000245.4(MET):c.1071G>A (p.Met357Ile)
|
rs1246645896
|
|
|
NM_000245.4(MET):c.1072G>C (p.Asp358His)
|
rs758919662
|
|
|
NM_000245.4(MET):c.1073A>C (p.Asp358Ala)
|
rs1326405747
|
|
|
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
|
|
|
|
NM_000245.4(MET):c.1076G>T (p.Arg359Leu)
|
rs201274041
|
|
|
NM_000245.4(MET):c.1079C>T (p.Ser360Phe)
|
rs2116604992
|
|
|
NM_000245.4(MET):c.1081G>A (p.Ala361Thr)
|
|
|
|
NM_000245.4(MET):c.1081G>C (p.Ala361Pro)
|
rs786202310
|
|
|
NM_000245.4(MET):c.1082C>T (p.Ala361Val)
|
rs949765512
|
|
|
NM_000245.4(MET):c.1084A>C (p.Met362Leu)
|
rs1791519202
|
|
|
NM_000245.4(MET):c.1084A>G (p.Met362Val)
|
|
|
|
NM_000245.4(MET):c.1086G>A (p.Met362Ile)
|
rs779724665
|
|
|
NM_000245.4(MET):c.1086G>C (p.Met362Ile)
|
rs779724665
|
|
|
NM_000245.4(MET):c.1086G>T (p.Met362Ile)
|
|
|
|
NM_000245.4(MET):c.1087T>C (p.Cys363Arg)
|
|
|
|
NM_000245.4(MET):c.1088G>A (p.Cys363Tyr)
|
rs1472858680
|
|
|
NM_000245.4(MET):c.1090G>A (p.Ala364Thr)
|
rs200016433
|
|
|
NM_000245.4(MET):c.1091C>T (p.Ala364Val)
|
|
|
|
NM_000245.4(MET):c.1096C>G (p.Pro366Ala)
|
|
|
|
NM_000245.4(MET):c.1100T>A (p.Ile367Asn)
|
|
|
|
NM_000245.4(MET):c.1106A>G (p.Tyr369Cys)
|
rs370314484
|
|
|
NM_000245.4(MET):c.1108G>A (p.Val370Ile)
|
|
|
|
NM_000245.4(MET):c.1108G>T (p.Val370Phe)
|
|
|
|
NM_000245.4(MET):c.1113C>A (p.Asn371Lys)
|
rs772014416
|
|
|
NM_000245.4(MET):c.1113C>G (p.Asn371Lys)
|
rs772014416
|
|
|
NM_000245.4(MET):c.1123A>G (p.Asn375Asp)
|
rs1375932394
|
|
|
NM_000245.4(MET):c.1125C>A (p.Asn375Lys)
|
rs776693512
|
|
|
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)
|
rs776693512
|
|
|
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
|
|
|
|
NM_000245.4(MET):c.1129A>G (p.Ile377Val)
|
rs1554379158
|
|
|
NM_000245.4(MET):c.1130T>G (p.Ile377Ser)
|
rs1791521654
|
|
|
NM_000245.4(MET):c.1131C>G (p.Ile377Met)
|
rs28444388
|
|
|
NM_000245.4(MET):c.1133T>G (p.Val378Gly)
|
rs2116606225
|
|
|
NM_000245.4(MET):c.1136A>G (p.Asn379Ser)
|
rs1320718414
|
|
|
NM_000245.4(MET):c.1142A>G (p.Asn381Ser)
|
|
|
|
NM_000245.4(MET):c.1144A>T (p.Asn382Tyr)
|
rs1791522873
|
|
|
NM_000245.4(MET):c.1145A>T (p.Asn382Ile)
|
rs2116606480
|
|
|
NM_000245.4(MET):c.114T>A (p.Asn38Lys)
|
rs863224693
|
|
|
NM_000245.4(MET):c.1152A>G (p.Arg384=)
|
rs2116606658
|
|
|
NM_000245.4(MET):c.1153T>A (p.Cys385Ser)
|
rs1562884601
|
|
|
NM_000245.4(MET):c.1157T>A (p.Leu386His)
|
rs1554379180
|
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
|
NM_000245.4(MET):c.1160A>G (p.Gln387Arg)
|
rs1791523699
|
|
|
NM_000245.4(MET):c.1164T>A (p.His388Gln)
|
rs1791523904
|
|
|
NM_000245.4(MET):c.116T>A (p.Met39Lys)
|
rs879254330
|
|
|
NM_000245.4(MET):c.116T>C (p.Met39Thr)
|
rs879254330
|
|
|
NM_000245.4(MET):c.1172G>T (p.Gly391Val)
|
rs1584878602
|
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
|
NM_000245.4(MET):c.1175C>A (p.Pro392His)
|
|
|
|
NM_000245.4(MET):c.1179T>A (p.Asn393Lys)
|
|
|
|
NM_000245.4(MET):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000245.4(MET):c.1180C>A (p.His394Asn)
|
rs201628326
|
|
|
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr)
|
rs1584878668
|
|
|
NM_000245.4(MET):c.1187A>C (p.His396Pro)
|
rs2116607543
|
|
|
NM_000245.4(MET):c.1190G>A (p.Cys397Tyr)
|
|
|
|
NM_000245.4(MET):c.1192T>C (p.Phe398Leu)
|
|
|
|
NM_000245.4(MET):c.1199G>A (p.Arg400Lys)
|
rs2116607774
|
|
|
NM_000245.4(MET):c.119A>T (p.Lys40Met)
|
rs1210616219
|
|
|
NM_000245.4(MET):c.1200+10A>G
|
rs746880479
|
|
|
NM_000245.4(MET):c.1200+2T>C
|
|
|
|
NM_000245.4(MET):c.1200+3A>G
|
|
|
|
NM_000245.4(MET):c.1200+6T>A
|
|
|
|
NM_000245.4(MET):c.1204C>A (p.Leu402Ile)
|
rs45441497
|
|
|
NM_000245.4(MET):c.1207C>A (p.Leu403Met)
|
rs202236031
|
|
|
NM_000245.4(MET):c.1208T>C (p.Leu403Pro)
|
rs761254993
|
|
|
NM_000245.4(MET):c.1217C>T (p.Ser406Leu)
|
|
|
|
NM_000245.4(MET):c.1220C>T (p.Ser407Leu)
|
rs764580322
|
|
|
NM_000245.4(MET):c.1222G>T (p.Gly408Cys)
|
|
|
|
NM_000245.4(MET):c.1226G>A (p.Cys409Tyr)
|
|
|
|
NM_000245.4(MET):c.1228G>A (p.Glu410Lys)
|
rs1793009396
|
|
|
NM_000245.4(MET):c.122A>G (p.Tyr41Cys)
|
rs780358093
|
|
|
NM_000245.4(MET):c.1231G>A (p.Ala411Thr)
|
rs752281264
|
|
|
NM_000245.4(MET):c.1238G>C (p.Arg413Pro)
|
rs375391602
|
|
|
NM_000245.4(MET):c.1238G>T (p.Arg413Leu)
|
rs375391602
|
|
|
NM_000245.4(MET):c.1249C>T (p.Arg417Ter)
|
|
|
|
NM_000245.4(MET):c.1250G>A (p.Arg417Gln)
|
rs2116780504
|
|
|
NM_000245.4(MET):c.1250G>C (p.Arg417Pro)
|
rs2116780504
|
|
|
NM_000245.4(MET):c.1253C>T (p.Thr418Ile)
|
rs2116780591
|
|
|
NM_000245.4(MET):c.1265C>T (p.Thr422Ile)
|
rs1793012257
|
|
|
NM_000245.4(MET):c.1267G>A (p.Ala423Thr)
|
rs922296506
|
|
|
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
|
|
|
|
NM_000245.4(MET):c.1274A>G (p.Gln425Arg)
|
rs1793013042
|
|
|
NM_000245.4(MET):c.1276C>T (p.Arg426Cys)
|
rs774779741
|
|
|
NM_000245.4(MET):c.1280T>C (p.Val427Ala)
|
rs773626056
|
|
|
NM_000245.4(MET):c.1283A>G (p.Asp428Gly)
|
|
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
|
NM_000245.4(MET):c.1286T>C (p.Leu429Ser)
|
|
|
|
NM_000245.4(MET):c.1287A>C (p.Leu429Phe)
|
rs1793014361
|
|
|
NM_000245.4(MET):c.1288T>C (p.Phe430Leu)
|
rs2116781526
|
|
|
NM_000245.4(MET):c.128T>C (p.Leu43Pro)
|
rs1487106127
|
|
|
NM_000245.4(MET):c.1290C>G (p.Phe430Leu)
|
rs1194542748
|
|
|
NM_000245.4(MET):c.1295G>A (p.Gly432Asp)
|
rs2116781776
|
|
|
NM_000245.4(MET):c.1297C>G (p.Gln433Glu)
|
rs1584914144
|
|
|
NM_000245.4(MET):c.1298A>G (p.Gln433Arg)
|
rs774952152
|
|
|
NM_000245.4(MET):c.1299A>G (p.Gln433=)
|
rs201326561
|
|
|
NM_000245.4(MET):c.1303A>T (p.Ser435Cys)
|
rs1186230260
|
|
|
NM_000245.4(MET):c.1304G>A (p.Ser435Asn)
|
rs199761604
|
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
|
NM_000245.4(MET):c.1309G>A (p.Val437Ile)
|
rs1584914185
|
|
|
NM_000245.4(MET):c.130C>T (p.Pro44Ser)
|
rs1474436542
|
|
|
NM_000245.4(MET):c.1310T>C (p.Val437Ala)
|
|
|
|
NM_000245.4(MET):c.1312C>G (p.Leu438Val)
|
rs587780733
|
|
|
NM_000245.4(MET):c.1318A>C (p.Thr440Pro)
|
rs1793016615
|
|
|
NM_000245.4(MET):c.131C>A (p.Pro44His)
|
rs1554378225
|
|
|
NM_000245.4(MET):c.1322C>G (p.Ser441Cys)
|
rs751158986
|
|
|
NM_000245.4(MET):c.1330A>G (p.Thr444Ala)
|
rs2116782829
|
|
|
NM_000245.4(MET):c.1331C>T (p.Thr444Ile)
|
rs1793017472
|
|
|
NM_000245.4(MET):c.1333T>C (p.Phe445Leu)
|
|
|
|
NM_000245.4(MET):c.1333T>G (p.Phe445Val)
|
rs1793017605
|
|
|
NM_000245.4(MET):c.1336A>C (p.Ile446Leu)
|
|
|
|
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
|
|
|
|
NM_000245.4(MET):c.133A>G (p.Asn45Asp)
|
|
|
|
NM_000245.4(MET):c.1340A>G (p.Lys447Arg)
|
rs1584914259
|
|
|
NM_000245.4(MET):c.1347C>A (p.Asp449Glu)
|
rs2116783251
|
|
|
NM_000245.4(MET):c.1348C>G (p.Leu450Val)
|
|
|
|
NM_000245.4(MET):c.1348C>T (p.Leu450Phe)
|
rs1793018571
|
|
|
NM_000245.4(MET):c.134A>G (p.Asn45Ser)
|
rs77651398
|
|
|
NM_000245.4(MET):c.1354A>G (p.Ile452Val)
|
rs1793018926
|
|
|
NM_000245.4(MET):c.1357G>A (p.Ala453Thr)
|
rs1793019219
|
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
|
NM_000245.4(MET):c.1360A>C (p.Asn454His)
|
rs1793019649
|
|
|
NM_000245.4(MET):c.1361A>G (p.Asn454Ser)
|
|
|
|
NM_000245.4(MET):c.1361A>T (p.Asn454Ile)
|
rs587780734
|
|
|
NM_000245.4(MET):c.1363C>A (p.Leu455Ile)
|
rs780077898
|
|
|
NM_000245.4(MET):c.1363C>T (p.Leu455Phe)
|
rs780077898
|
|
|
NM_000245.4(MET):c.1364T>C (p.Leu455Pro)
|
|
|
|
NM_000245.4(MET):c.1366G>A (p.Gly456Arg)
|
rs1793020405
|
|
|
NM_000245.4(MET):c.1367_1370del (p.Gly456fs)
|
rs1793020534
|
|
|
NM_000245.4(MET):c.1370C>T (p.Thr457Ile)
|
|
|
|
NM_000245.4(MET):c.1378G>A (p.Gly460Ser)
|
|
|
|
NM_000245.4(MET):c.1381C>A (p.Arg461Ser)
|
|
|
|
NM_000245.4(MET):c.1381C>G (p.Arg461Gly)
|
|
|
|
NM_000245.4(MET):c.1381C>T (p.Arg461Cys)
|
rs1584914359
|
|
|
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
|
|
|
|
NM_000245.4(MET):c.1388T>G (p.Met463Arg)
|
rs1584914382
|
|
|
NM_000245.4(MET):c.1392+1G>T
|
rs1584914409
|
|
|
NM_000245.4(MET):c.1392+3A>C
|
|
|
|
NM_000245.4(MET):c.1392+3A>G
|
|
|
|
NM_000245.4(MET):c.1392+5G>A
|
rs386833405
|
|
|
NM_000245.4(MET):c.1392+6T>C
|
|
|
|
NM_000245.4(MET):c.1392+6T>G
|
rs1793022563
|
|
|
NM_000245.4(MET):c.1393-1G>T
|
rs1584921909
|
|
|
NM_000245.4(MET):c.1393G>A (p.Val465Ile)
|
rs754969545
|
|
|
NM_000245.4(MET):c.1397T>C (p.Val466Ala)
|
|
|
|
NM_000245.4(MET):c.1399G>A (p.Val467Ile)
|
rs1004264326
|
|
|
NM_000245.4(MET):c.1399G>T (p.Val467Phe)
|
rs1004264326
|
|
|
NM_000245.4(MET):c.139A>T (p.Thr47Ser)
|
|
|
|
NM_000245.4(MET):c.1403C>G (p.Ser468Cys)
|
rs1793378040
|
|
|
NM_000245.4(MET):c.1403C>T (p.Ser468Phe)
|
rs1793378040
|
|
|
NM_000245.4(MET):c.1405C>T (p.Arg469Ter)
|
rs2116825789
|
|
|
NM_000245.4(MET):c.1406G>C (p.Arg469Pro)
|
rs752842662
|
|
|
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
|
|
|
|
NM_000245.4(MET):c.140C>A (p.Thr47Asn)
|
rs2116581323
|
|
|
NM_000245.4(MET):c.140C>T (p.Thr47Ile)
|
|
|
|
NM_000245.4(MET):c.1411G>A (p.Gly471Arg)
|
rs1207715563
|
|
|
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
|
|
|
|
NM_000245.4(MET):c.1415C>T (p.Pro472Leu)
|
rs1793379533
|
|
|
NM_000245.4(MET):c.1417T>C (p.Ser473Pro)
|
rs2116826038
|
|
|
NM_000245.4(MET):c.141C>A (p.Thr47=)
|
rs864622222
|
|
|
NM_000245.4(MET):c.1420A>G (p.Thr474Ala)
|
rs1793379665
|
|
|
NM_000245.4(MET):c.1421C>A (p.Thr474Asn)
|
rs1554390902
|
|
|
NM_000245.4(MET):c.1421C>T (p.Thr474Ile)
|
rs1554390902
|
|
|
NM_000245.4(MET):c.1424C>T (p.Pro475Leu)
|
rs1793380035
|
|
|
NM_000245.4(MET):c.1427A>G (p.His476Arg)
|
|
|
|
NM_000245.4(MET):c.1428T>A (p.His476Gln)
|
rs1432416607
|
|
|
NM_000245.4(MET):c.1430T>A (p.Val477Glu)
|
rs1197127761
|
|
|
NM_000245.4(MET):c.1430T>G (p.Val477Gly)
|
|
|
|
NM_000245.4(MET):c.1436T>C (p.Phe479Ser)
|
rs1793380587
|
|
|
NM_000245.4(MET):c.1439T>C (p.Leu480Pro)
|
|
|
|
NM_000245.4(MET):c.1441C>A (p.Leu481Met)
|
rs1012909374
|
|
|
NM_000245.4(MET):c.1444G>T (p.Asp482Tyr)
|
|
|
|
NM_000245.4(MET):c.1445A>G (p.Asp482Gly)
|
|
|
|
NM_000245.4(MET):c.1447T>C (p.Ser483Pro)
|
rs1584922011
|
|
|
NM_000245.4(MET):c.1453C>T (p.Pro485Ser)
|
rs1451954069
|
|
|
NM_000245.4(MET):c.1456G>C (p.Val486Leu)
|
rs746334800
|
|
|
NM_000245.4(MET):c.145G>A (p.Glu49Lys)
|
rs1060503528
|
|
|
NM_000245.4(MET):c.1465G>A (p.Glu489Lys)
|
rs1391853762
|
|
|
NM_000245.4(MET):c.1469T>A (p.Val490Glu)
|
|
|
|
NM_000245.4(MET):c.1472T>C (p.Ile491Thr)
|
rs561588772
|
|
|
NM_000245.4(MET):c.1477G>A (p.Glu493Lys)
|
rs965319455
|
|
|
NM_000245.4(MET):c.1483A>C (p.Thr495Pro)
|
rs1793383674
|
|
|
NM_000245.4(MET):c.1484C>A (p.Thr495Lys)
|
rs45585831
|
|
|
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)
|
rs45585831
|
|
|
NM_000245.4(MET):c.1484C>T (p.Thr495Ile)
|
|
|
|
NM_000245.4(MET):c.1489A>G (p.Asn497Asp)
|
rs766209435
|
|
|
NM_000245.4(MET):c.1496A>C (p.Asn499Thr)
|
rs1253878709
|
|
|
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)
|
rs1253878709
|
|
|
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
|
|
|
|
NM_000245.4(MET):c.1505C>T (p.Thr502Ile)
|
rs2116827998
|
|
|
NM_000245.4(MET):c.1507C>G (p.Leu503Val)
|
rs1417433919
|
|
|
NM_000245.4(MET):c.1508T>A (p.Leu503Gln)
|
rs1562908826
|
|
|
NM_000245.4(MET):c.1513A>T (p.Ile505Phe)
|
rs1584922200
|
|
|
NM_000245.4(MET):c.151C>T (p.Pro51Ser)
|
rs758016814
|
|
|
NM_000245.4(MET):c.1522A>G (p.Lys508Glu)
|
|
|
|
NM_000245.4(MET):c.1523A>G (p.Lys508Arg)
|
|
|
|
NM_000245.4(MET):c.1523A>T (p.Lys508Met)
|
|
|
|
NM_000245.4(MET):c.1526A>T (p.Lys509Met)
|
|
|
|
NM_000245.4(MET):c.1527+1G>A
|
rs1584922241
|
|
|
NM_000245.4(MET):c.1527+4A>G
|
rs1793387054
|
|
|
NM_000245.4(MET):c.1527+5G>A
|
|
|
|
NM_000245.4(MET):c.1527+6C>A
|
rs1793387165
|
|
|
NM_000245.4(MET):c.1527+6C>G
|
rs1793387165
|
|
|
NM_000245.4(MET):c.1528-7T>G
|
|
|
|
NM_000245.4(MET):c.1531A>T (p.Thr511Ser)
|
rs1181927481
|
|
|
NM_000245.4(MET):c.1535A>C (p.Lys512Thr)
|
rs1793417875
|
|
|
NM_000245.4(MET):c.1538T>A (p.Ile513Asn)
|
rs1584923080
|
|
|
NM_000245.4(MET):c.1538T>C (p.Ile513Thr)
|
rs1584923080
|
|
|
NM_000245.4(MET):c.1540C>G (p.Pro514Ala)
|
rs756526057
|
|
|
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
|
|
|
|
NM_000245.4(MET):c.1541C>A (p.Pro514Gln)
|
rs1793418567
|
|
|
NM_000245.4(MET):c.1545G>C (p.Leu515Phe)
|
rs1554391227
|
|
|
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
|
|
|
|
NM_000245.4(MET):c.1550G>C (p.Gly517Ala)
|
|
|
|
NM_000245.4(MET):c.1553T>C (p.Leu518Ser)
|
rs2116834331
|
|
|
NM_000245.4(MET):c.1555G>A (p.Gly519Ser)
|
|
|
|
NM_000245.4(MET):c.1560C>A (p.Cys520Ter)
|
rs1584923132
|
|
|
NM_000245.4(MET):c.1561A>G (p.Arg521Gly)
|
rs1176112251
|
|
|
NM_000245.4(MET):c.1568T>C (p.Phe523Ser)
|
rs1793420216
|
|
|
NM_000245.4(MET):c.1568T>G (p.Phe523Cys)
|
rs1793420216
|
|
|
NM_000245.4(MET):c.1569C>G (p.Phe523Leu)
|
|
|
|
NM_000245.4(MET):c.1570C>G (p.Gln524Glu)
|
rs2116834835
|
|
|
NM_000245.4(MET):c.1571A>T (p.Gln524Leu)
|
rs1584923162
|
|
|
NM_000245.4(MET):c.1572G>C (p.Gln524His)
|
|
|
|
NM_000245.4(MET):c.157C>A (p.Gln53Lys)
|
|
|
|
NM_000245.4(MET):c.1580G>A (p.Ser527Asn)
|
rs1328454755
|
|
|
NM_000245.4(MET):c.1582C>T (p.Gln528Ter)
|
|
|
|
NM_000245.4(MET):c.158A>G (p.Gln53Arg)
|
rs1002286461
|
|
|
NM_000245.4(MET):c.1594G>A (p.Ala532Thr)
|
rs1793421596
|
|
|
NM_000245.4(MET):c.1597C>A (p.Pro533Thr)
|
rs1793422040
|
|
|
NM_000245.4(MET):c.1598C>T (p.Pro533Leu)
|
rs2116835610
|
|
|
NM_000245.4(MET):c.159G>C (p.Gln53His)
|
rs1791464303
|
|
|
NM_000245.4(MET):c.1600C>T (p.Pro534Ser)
|
rs200283364
|
|
|
NM_000245.4(MET):c.1601C>T (p.Pro534Leu)
|
rs1793422444
|
|
|
NM_000245.4(MET):c.1603T>C (p.Phe535Leu)
|
rs1793422722
|
|
|
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
|
|
|
|
NM_000245.4(MET):c.1612T>C (p.Cys538Arg)
|
|
|
|
NM_000245.4(MET):c.161A>G (p.Asn54Ser)
|
|
|
|
NM_000245.4(MET):c.1622G>C (p.Cys541Ser)
|
rs2116836106
|
|
|
NM_000245.4(MET):c.1623C>G (p.Cys541Trp)
|
|
|
|
NM_000245.4(MET):c.1625A>G (p.His542Arg)
|
|
|
|
NM_000245.4(MET):c.1626C>A (p.His542Gln)
|
rs762898756
|
|
|
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)
|
rs763991073
|
|
|
NM_000245.4(MET):c.1627G>C (p.Asp543His)
|
|
|
|
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
|
|
|
|
NM_000245.4(MET):c.1636G>C (p.Val546Leu)
|
|
|
|
NM_000245.4(MET):c.1637T>A (p.Val546Glu)
|
rs993463693
|
|
|
NM_000245.4(MET):c.1639C>T (p.Arg547Ter)
|
rs1047795344
|
|
|
NM_000245.4(MET):c.1640G>C (p.Arg547Pro)
|
rs761951444
|
|
|
NM_000245.4(MET):c.1643C>G (p.Ser548Trp)
|
|
|
|
NM_000245.4(MET):c.1645G>A (p.Glu549Lys)
|
|
|
|
NM_000245.4(MET):c.1646A>G (p.Glu549Gly)
|
|
|
|
NM_000245.4(MET):c.1655T>C (p.Leu552Pro)
|
rs2116837022
|
|
|
NM_000245.4(MET):c.1657A>T (p.Ser553Cys)
|
|
|
|
NM_000245.4(MET):c.1661G>C (p.Gly554Ala)
|
|
|
|
NM_000245.4(MET):c.166A>G (p.Ile56Val)
|
rs746806941
|
|
|
NM_000245.4(MET):c.1670C>T (p.Thr557Ile)
|
rs1584923423
|
|
|
NM_000245.4(MET):c.1676A>G (p.Gln559Arg)
|
rs45460604
|
|
|
NM_000245.4(MET):c.1678A>G (p.Ile560Val)
|
rs1351634349
|
|
|
NM_000245.4(MET):c.1682G>C (p.Cys561Ser)
|
|
|
|
NM_000245.4(MET):c.1687C>T (p.Pro563Ser)
|
|
|
|
NM_000245.4(MET):c.1694T>C (p.Ile565Thr)
|
rs1584923517
|
|
|
NM_000245.4(MET):c.1696T>G (p.Tyr566Asp)
|
|
|
|
NM_000245.4(MET):c.16G>A (p.Val6Met)
|
|
|
|
NM_000245.4(MET):c.16G>T (p.Val6Leu)
|
rs1395233386
|
|
|
NM_000245.4(MET):c.1700A>G (p.Lys567Arg)
|
rs1793429138
|
|
|
NM_000245.4(MET):c.1701+3A>C
|
rs779880717
|
|
|
NM_000245.4(MET):c.1701G>C (p.Lys567Asn)
|
rs1793429265
|
|
|
NM_000245.4(MET):c.1701G>T (p.Lys567Asn)
|
|
|
|
NM_000245.4(MET):c.1702-1G>C
|
rs747390610
|
|
|
NM_000245.4(MET):c.1702-5T>A
|
|
|
|
NM_000245.4(MET):c.1703T>C (p.Val568Ala)
|
|
|
|
NM_000245.4(MET):c.1715G>T (p.Ser572Ile)
|
|
|
|
NM_000245.4(MET):c.1717G>A (p.Ala573Thr)
|
|
|
|
NM_000245.4(MET):c.1718C>T (p.Ala573Val)
|
rs1429917144
|
|
|
NM_000245.4(MET):c.172C>A (p.His58Asn)
|
rs1791464742
|
|
|
NM_000245.4(MET):c.1730G>A (p.Gly577Glu)
|
|
|
|
NM_000245.4(MET):c.1732G>A (p.Gly578Arg)
|
rs1584939128
|
|
|
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
|
|
|
|
NM_000245.4(MET):c.1736C>T (p.Thr579Ile)
|
|
|
|
NM_000245.4(MET):c.1740G>T (p.Arg580Ser)
|
rs1182994959
|
|
|
NM_000245.4(MET):c.1741C>G (p.Leu581Val)
|
|
|
|
NM_000245.4(MET):c.1745C>T (p.Thr582Ile)
|
|
|
|
NM_000245.4(MET):c.1747A>G (p.Ile583Val)
|
|
|
|
NM_000245.4(MET):c.174T>G (p.His58Gln)
|
rs1554378291
|
|
|
NM_000245.4(MET):c.1758G>T (p.Trp586Cys)
|
rs1562920414
|
|
|
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
|
|
|
|
NM_000245.4(MET):c.176A>G (p.Glu59Gly)
|
rs1554378297
|
|
|
NM_000245.4(MET):c.1770T>G (p.Phe590Leu)
|
rs199542598
|
|
|
NM_000245.4(MET):c.1776G>C (p.Arg592Ser)
|
|
|
|
NM_000245.4(MET):c.1780A>G (p.Asn594Asp)
|
rs1794141895
|
|
|
NM_000245.4(MET):c.1784A>C (p.Lys595Thr)
|
rs1584939204
|
|
|
NM_000245.4(MET):c.1787T>A (p.Phe596Tyr)
|
rs1330648228
|
|
|
NM_000245.4(MET):c.1789G>C (p.Asp597His)
|
rs769073123
|
|
|
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr)
|
rs769073123
|
|
|
NM_000245.4(MET):c.1795A>G (p.Lys599Glu)
|
rs2116910086
|
|
|
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
|
|
|
|
NM_000245.4(MET):c.1799A>C (p.Lys600Thr)
|
|
|
|
NM_000245.4(MET):c.179A>G (p.His60Arg)
|
rs776426414
|
|
|
NM_000245.4(MET):c.17T>G (p.Val6Gly)
|
|
|
|
NM_000245.4(MET):c.1801A>G (p.Thr601Ala)
|
rs1216005099
|
|
|
NM_000245.4(MET):c.1805G>A (p.Arg602Lys)
|
rs1484732727
|
|
|
NM_000245.4(MET):c.1807G>A (p.Val603Ile)
|
rs2116910262
|
|
|
NM_000245.4(MET):c.1810C>A (p.Leu604Ile)
|
rs201861645
|
|
|
NM_000245.4(MET):c.1812_1814del (p.Leu605del)
|
rs1060503535
|
|
|
NM_000245.4(MET):c.1813C>T (p.Leu605Phe)
|
rs774945178
|
|
|
NM_000245.4(MET):c.1819A>C (p.Asn607His)
|
|
|
|
NM_000245.4(MET):c.181C>G (p.His61Asp)
|
rs368942722
|
|
|
NM_000245.4(MET):c.1820A>G (p.Asn607Ser)
|
rs2116910444
|
|
|
NM_000245.4(MET):c.1821T>A (p.Asn607Lys)
|
rs762389147
|
|
|
NM_000245.4(MET):c.1822G>A (p.Glu608Lys)
|
rs2116910480
|
|
|
NM_000245.4(MET):c.1824G>C (p.Glu608Asp)
|
|
|
|
NM_000245.4(MET):c.1825A>G (p.Ser609Gly)
|
|
|
|
NM_000245.4(MET):c.1826G>A (p.Ser609Asn)
|
rs1554394973
|
|
|
NM_000245.4(MET):c.1832C>A (p.Thr611Asn)
|
|
|
|
NM_000245.4(MET):c.1838C>A (p.Thr613Asn)
|
rs1258088041
|
|
|
NM_000245.4(MET):c.1844G>A (p.Ser615Asn)
|
rs1794144964
|
|
|
NM_000245.4(MET):c.1848G>C (p.Glu616Asp)
|
rs2116910921
|
|
|
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys)
|
rs1794145066
|
|
|
NM_000245.4(MET):c.1849A>G (p.Ser617Gly)
|
|
|
|
NM_000245.4(MET):c.1850G>A (p.Ser617Asn)
|
rs1481812764
|
|
|
NM_000245.4(MET):c.1857G>A (p.Met619Ile)
|
|
|
|
NM_000245.4(MET):c.1859A>G (p.Asn620Ser)
|
rs2116911133
|
|
|
NM_000245.4(MET):c.1862+1G>A
|
rs1013431413
|
|
|
NM_000245.4(MET):c.1863-2A>G
|
rs1370688649
|
|
|
NM_000245.4(MET):c.1863-5dup
|
rs766900241
|
|
|
NM_000245.4(MET):c.1863A>G (p.Thr621=)
|
rs1794219866
|
|
|
NM_000245.4(MET):c.1865T>G (p.Leu622Trp)
|
rs1794220084
|
|
|
NM_000245.4(MET):c.1866G>C (p.Leu622Phe)
|
rs1562921668
|
|
|
NM_000245.4(MET):c.1868A>G (p.Lys623Arg)
|
rs2116919726
|
|
|
NM_000245.4(MET):c.1871G>T (p.Cys624Phe)
|
rs1794220294
|
|
|
NM_000245.4(MET):c.1874C>T (p.Thr625Ile)
|
|
|
|
NM_000245.4(MET):c.1877T>C (p.Val626Ala)
|
|
|
|
NM_000245.4(MET):c.1879G>T (p.Gly627Cys)
|
rs2116919915
|
|
|
NM_000245.4(MET):c.1880G>A (p.Gly627Asp)
|
|
|
|
NM_000245.4(MET):c.1890G>A (p.Met630Ile)
|
|
|
|
NM_000245.4(MET):c.1890G>T (p.Met630Ile)
|
rs756209410
|
|
|
NM_000245.4(MET):c.1891A>G (p.Asn631Asp)
|
|
|
|
NM_000245.4(MET):c.1892A>G (p.Asn631Ser)
|
|
|
|
NM_000245.4(MET):c.1893T>G (p.Asn631Lys)
|
rs1250868411
|
|
|
NM_000245.4(MET):c.1897C>T (p.His633Tyr)
|
|
|
|
NM_000245.4(MET):c.1898A>T (p.His633Leu)
|
rs45586239
|
|
|
NM_000245.4(MET):c.1902C>G (p.Phe634Leu)
|
rs772450441
|
|
|
NM_000245.4(MET):c.190C>G (p.Leu64Val)
|
rs1791466070
|
|
|
NM_000245.4(MET):c.1912A>G (p.Ile638Val)
|
rs1060503536
|
|
|
NM_000245.4(MET):c.1912A>T (p.Ile638Leu)
|
rs1060503536
|
|
|
NM_000245.4(MET):c.1913T>C (p.Ile638Thr)
|
rs1554395371
|
|
|
NM_000245.4(MET):c.1924A>C (p.Asn642His)
|
|
|
|
NM_000245.4(MET):c.1927G>T (p.Gly643Cys)
|
|
|
|
NM_000245.4(MET):c.1928G>A (p.Gly643Asp)
|
|
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
|
NM_000245.4(MET):c.1934G>A (p.Gly645Glu)
|
|
|
|
NM_000245.4(MET):c.1936A>G (p.Thr646Ala)
|
|
|
|
NM_000245.4(MET):c.1937C>T (p.Thr646Ile)
|
rs751307227
|
|
|
NM_000245.4(MET):c.1939A>G (p.Thr647Ala)
|
|
|
|
NM_000245.4(MET):c.1944_1945delinsGC (p.Tyr649His)
|
|
|
|
NM_000245.4(MET):c.1945T>C (p.Tyr649His)
|
|
|
|
NM_000245.4(MET):c.1952C>T (p.Thr651Ile)
|
rs2116921189
|
|
|
NM_000245.4(MET):c.1958C>T (p.Ser653Phe)
|
rs1554395395
|
|
|
NM_000245.4(MET):c.1958_1960del (p.Ser653del)
|
rs1430652609
|
|
|
NM_000245.4(MET):c.1961A>G (p.Tyr654Cys)
|
rs1554395399
|
|
|
NM_000245.4(MET):c.1965+11T>G
|
rs780230492
|
|
|
NM_000245.4(MET):c.1965+4A>C
|
rs1362532895
|
|
|
NM_000245.4(MET):c.1966-3C>T
|
|
|
|
NM_000245.4(MET):c.1968T>A (p.Asp656Glu)
|
|
|
|
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
|
|
|
|
NM_000245.4(MET):c.1972G>C (p.Val658Leu)
|
rs587778446
|
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
|
NM_000245.4(MET):c.1977A>G (p.Ile659Met)
|
rs1794236479
|
|
|
NM_000245.4(MET):c.1979C>A (p.Thr660Lys)
|
|
|
|
NM_000245.4(MET):c.1979C>T (p.Thr660Ile)
|
rs1584941563
|
|
|
NM_000245.4(MET):c.1982G>A (p.Ser661Asn)
|
rs755139610
|
|
|
NM_000245.4(MET):c.1990C>T (p.Pro664Ser)
|
|
|
|
NM_000245.4(MET):c.1991C>T (p.Pro664Leu)
|
rs1367341975
|
|
|
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
|
|
|
|
NM_000245.4(MET):c.1995A>G (p.Lys665=)
|
rs2116923469
|
|
|
NM_000245.4(MET):c.1998C>A (p.Tyr666Ter)
|
rs566540058
|
|
|
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
|
|
|
|
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
|
|
|
|
NM_000245.4(MET):c.1999_2018del (p.Gly667fs)
|
rs2116923507
|
|
|
NM_000245.4(MET):c.199A>T (p.Thr67Ser)
|
rs202047059
|
|
|
NM_000245.4(MET):c.2005A>G (p.Met669Val)
|
rs1344902873
|
|
|
NM_000245.4(MET):c.2007G>T (p.Met669Ile)
|
|
|
|
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
|
|
|
|
NM_000245.4(MET):c.2015G>A (p.Gly672Asp)
|
rs2116923826
|
|
|
NM_000245.4(MET):c.2016C>T (p.Gly672=)
|
rs768149852
|
|
|
NM_000245.4(MET):c.2018C>G (p.Thr673Ser)
|
rs1401138460
|
|
|
NM_000245.4(MET):c.2018C>T (p.Thr673Ile)
|
|
|
|
NM_000245.4(MET):c.2027C>A (p.Thr676Asn)
|
rs2116924095
|
|
|
NM_000245.4(MET):c.2027C>T (p.Thr676Ile)
|
|
|
|
NM_000245.4(MET):c.2043C>G (p.Tyr681Ter)
|
rs1354964885
|
|
|
NM_000245.4(MET):c.2045T>G (p.Leu682Arg)
|
|
|
|
NM_000245.4(MET):c.2050A>G (p.Ser684Gly)
|
rs1554395462
|
|
|
NM_000245.4(MET):c.2055G>T (p.Gly685=)
|
rs766401668
|
|
|
NM_000245.4(MET):c.2059T>C (p.Ser687Pro)
|
rs1562922167
|
|
|
NM_000245.4(MET):c.2062A>G (p.Arg688Gly)
|
rs1584941772
|
|
|
NM_000245.4(MET):c.2065C>T (p.His689Tyr)
|
rs1794244388
|
|
|
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
|
|
|
|
NM_000245.4(MET):c.2074A>G (p.Ile692Val)
|
|
|
|
NM_000245.4(MET):c.2075T>C (p.Ile692Thr)
|
rs1183432579
|
|
|
NM_000245.4(MET):c.2078G>A (p.Gly693Asp)
|
|
|
|
NM_000245.4(MET):c.2080G>A (p.Gly694Arg)
|
rs2116925025
|
|
|
NM_000245.4(MET):c.2081G>A (p.Gly694Glu)
|
rs1584941830
|
|
|
NM_000245.4(MET):c.2082A>T (p.Gly694=)
|
|
|
|
NM_000245.4(MET):c.2086del (p.Thr696fs)
|
rs1794245712
|
|
|
NM_000245.4(MET):c.2087C>T (p.Thr696Ile)
|
|
|
|
NM_000245.4(MET):c.208A>G (p.Ile70Val)
|
rs2116582927
|
|
|
NM_000245.4(MET):c.2092A>G (p.Thr698Ala)
|
rs1794246284
|
|
|
NM_000245.4(MET):c.2099A>G (p.Lys700Arg)
|
rs751907602
|
|
|
NM_000245.4(MET):c.2100A>C (p.Lys700Asn)
|
rs1794246923
|
|
|
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
|
|
|
|
NM_000245.4(MET):c.2102+4T>C
|
rs200601372
|
|
|
NM_000245.4(MET):c.2102+5T>A
|
rs1794247110
|
|
|
NM_000245.4(MET):c.2102+5T>G
|
rs1794247110
|
|
|
NM_000245.4(MET):c.2102+6G>T
|
rs757561412
|
|
|
NM_000245.4(MET):c.2103-3C>T
|
rs1431679847
|
|
|
NM_000245.4(MET):c.2103T>C (p.Ser701=)
|
rs1554395656
|
|
|
NM_000245.4(MET):c.2104G>C (p.Val702Leu)
|
rs1485891606
|
|
|
NM_000245.4(MET):c.2105T>C (p.Val702Ala)
|
|
|
|
NM_000245.4(MET):c.2110A>T (p.Asn704Tyr)
|
|
|
|
NM_000245.4(MET):c.2111A>G (p.Asn704Ser)
|
rs1794272939
|
|
|
NM_000245.4(MET):c.2112C>A (p.Asn704Lys)
|
rs1458912347
|
|
|
NM_000245.4(MET):c.2114G>A (p.Ser705Asn)
|
rs1003586623
|
|
|
NM_000245.4(MET):c.2120T>C (p.Leu707Pro)
|
|
|
|
NM_000245.4(MET):c.2122G>A (p.Glu708Lys)
|
rs2116930184
|
|
|
NM_000245.4(MET):c.2126G>A (p.Cys709Tyr)
|
rs1554395668
|
|
|
NM_000245.4(MET):c.212A>G (p.Tyr71Cys)
|
rs1260635670
|
|
|
NM_000245.4(MET):c.2134C>G (p.Pro712Ala)
|
|
|
|
NM_000245.4(MET):c.2137G>A (p.Ala713Thr)
|
|
|
|
NM_000245.4(MET):c.2144C>A (p.Thr715Asn)
|
rs1554395680
|
|
|
NM_000245.4(MET):c.2146A>G (p.Ile716Val)
|
|
|
|
NM_000245.4(MET):c.2147T>C (p.Ile716Thr)
|
|
|
|
NM_000245.4(MET):c.214G>A (p.Val72Ile)
|
rs762253815
|
|
|
NM_000245.4(MET):c.2153C>G (p.Thr718Ser)
|
|
|
|
NM_000245.4(MET):c.2159T>A (p.Phe720Tyr)
|
rs2116931016
|
|
|
NM_000245.4(MET):c.2160T>A (p.Phe720Leu)
|
|
|
|
NM_000245.4(MET):c.2161G>T (p.Ala721Ser)
|
|
|
|
NM_000245.4(MET):c.2168A>C (p.Lys723Thr)
|
rs1554395688
|
|
|
NM_000245.4(MET):c.2176A>G (p.Ile726Val)
|
rs1794275336
|
|
|
NM_000245.4(MET):c.2180A>C (p.Asp727Ala)
|
|
|
|
NM_000245.4(MET):c.2185G>A (p.Ala729Thr)
|
|
|
|
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
|
|
|
|
NM_000245.4(MET):c.2190C>G (p.Asn730Lys)
|
rs2116931541
|
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
|
NM_000245.4(MET):c.2195A>C (p.Glu732Ala)
|
rs1794276426
|
|
|
NM_000245.4(MET):c.2200A>C (p.Ser734Arg)
|
rs754228039
|
|
|
NM_000245.4(MET):c.2200A>G (p.Ser734Gly)
|
rs754228039
|
|
|
NM_000245.4(MET):c.2201G>A (p.Ser734Asn)
|
|
|
|
NM_000245.4(MET):c.2203A>G (p.Ile735Val)
|
rs1398648043
|
|
|
NM_000245.4(MET):c.2204dup (p.Phe736fs)
|
rs2116931908
|
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
|
NM_000245.4(MET):c.2210G>A (p.Ser737Asn)
|
rs879254333
|
|
|
NM_000245.4(MET):c.2213A>C (p.Tyr738Ser)
|
rs2116932101
|
|
|
NM_000245.4(MET):c.2215C>G (p.Arg739Gly)
|
rs45587940
|
|
|
NM_000245.4(MET):c.2216G>T (p.Arg739Leu)
|
|
|
|
NM_000245.4(MET):c.2218G>C (p.Glu740Gln)
|
|
|
|
NM_000245.4(MET):c.2220A>C (p.Glu740Asp)
|
rs1554395720
|
|
|
NM_000245.4(MET):c.2225C>T (p.Pro742Leu)
|
|
|
|
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
|
|
|
|
NM_000245.4(MET):c.222T>A (p.Asn74Lys)
|
rs767934760
|
|
|
NM_000245.4(MET):c.2231T>C (p.Val744Ala)
|
|
|
|
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
|
|
|
|
NM_000245.4(MET):c.2234A>T (p.Tyr745Phe)
|
rs1794278950
|
|
|
NM_000245.4(MET):c.2238A>T (p.Glu746Asp)
|
rs2116932511
|
|
|
NM_000245.4(MET):c.2242C>A (p.His748Asn)
|
rs2116932590
|
|
|
NM_000245.4(MET):c.2243A>G (p.His748Arg)
|
|
|
|
NM_000245.4(MET):c.2245C>G (p.Pro749Ala)
|
rs1584942863
|
|
|
NM_000245.4(MET):c.2246C>T (p.Pro749Leu)
|
rs1794279427
|
|
|
NM_000245.4(MET):c.2248A>C (p.Thr750Pro)
|
|
|
|
NM_000245.4(MET):c.2248A>G (p.Thr750Ala)
|
rs1060503531
|
|
|
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
|
|
|
|
NM_000245.4(MET):c.2263A>C (p.Ser755Arg)
|
rs981401332
|
|
|
NM_000245.4(MET):c.2265-10G>T
|
rs1355716761
|
|
|
NM_000245.4(MET):c.2265-118del
|
rs1794304820
|
|
|
NM_000245.4(MET):c.2265-18del
|
rs761305394
|
|
|
NM_000245.4(MET):c.2265-1G>A
|
|
|
|
NM_000245.4(MET):c.2265-25T>G
|
|
|
|
NM_000245.4(MET):c.2265-29A>C
|
|
|
|
NM_000245.4(MET):c.2265-29A>G
|
|
|
|
NM_000245.4(MET):c.2265-29A>T
|
rs2116937133
|
|
|
NM_000245.4(MET):c.2265-2A>C
|
|
|
|
NM_000245.4(MET):c.2265-2A>G
|
rs1397775000
|
|
|
NM_000245.4(MET):c.2265-31A>G
|
rs370237186
|
|
|
NM_000245.4(MET):c.2265-35C>T
|
|
|
|
NM_000245.4(MET):c.2265-37C>G
|
|
|
|
NM_000245.4(MET):c.2265-41G>A
|
rs1554395868
|
|
|
NM_000245.4(MET):c.2265-46G>A
|
|
|
|
NM_000245.4(MET):c.2265-46G>T
|
rs1584943653
|
|
|
NM_000245.4(MET):c.2265-48G>A
|
|
|
|
NM_000245.4(MET):c.2265-48G>T
|
rs587780540
|
|
|
NM_000245.4(MET):c.2265-49G>C
|
rs1196543273
|
|
|
NM_000245.4(MET):c.2265-55G>C
|
|
|
|
NM_000245.4(MET):c.2265-57C>T
|
rs1562923455
|
|
|
NM_000245.4(MET):c.2265-59T>C
|
|
|
|
NM_000245.4(MET):c.2265-63C>G
|
rs2116936690
|
|
|
NM_000245.4(MET):c.2265-64T>C
|
|
|
|
NM_000245.4(MET):c.2265-68T>G
|
|
|
|
NM_000245.4(MET):c.2266G>A (p.Gly756Ser)
|
|
|
|
NM_000245.4(MET):c.2267G>A (p.Gly756Asp)
|
rs1794309303
|
|
|
NM_000245.4(MET):c.2273G>A (p.Ser758Asn)
|
rs2116937610
|
|
|
NM_000245.4(MET):c.2276C>A (p.Thr759Lys)
|
rs1794309783
|
|
|
NM_000245.4(MET):c.2276C>T (p.Thr759Ile)
|
|
|
|
NM_000245.4(MET):c.227A>T (p.Glu76Val)
|
|
|
|
NM_000245.4(MET):c.2284G>A (p.Gly762Ser)
|
rs1794310272
|
|
|
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
|
rs1060503541
|
|
|
NM_000245.4(MET):c.2285G>C (p.Gly762Ala)
|
rs1060503541
|
|
|
NM_000245.4(MET):c.2287G>A (p.Val763Ile)
|
rs2116937873
|
|
|
NM_000245.4(MET):c.2293A>G (p.Lys765Glu)
|
rs1554395889
|
|
|
NM_000245.4(MET):c.2299C>G (p.Leu767Val)
|
|
|
|
NM_000245.4(MET):c.229G>A (p.Asp77Asn)
|
rs372320153
|
|
|
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
|
|
|
|
NM_000245.4(MET):c.2311A>G (p.Ser771Gly)
|
|
|
|
NM_000245.4(MET):c.2311_2314del (p.Val772fs)
|
rs2116938280
|
|
|
NM_000245.4(MET):c.2312_2315del (p.Ser771fs)
|
rs2116938318
|
|
|
NM_000245.4(MET):c.2317C>T (p.Pro773Ser)
|
rs2116938395
|
|
|
NM_000245.4(MET):c.2323A>G (p.Met775Val)
|
rs1794311390
|
|
|
NM_000245.4(MET):c.2326G>A (p.Val776Ile)
|
|
|
|
NM_000245.4(MET):c.2334T>G (p.Asn778Lys)
|
rs2116938738
|
|
|
NM_000245.4(MET):c.2335G>A (p.Val779Met)
|
rs1562923583
|
|
|
NM_000245.4(MET):c.2339A>C (p.His780Pro)
|
|
|
|
NM_000245.4(MET):c.2347G>C (p.Gly783Arg)
|
rs879254334
|
|
|
NM_000245.4(MET):c.2351G>A (p.Arg784Lys)
|
rs1794313115
|
|
|
NM_000245.4(MET):c.2354A>T (p.Asn785Ile)
|
|
|
|
NM_000245.4(MET):c.2355C>A (p.Asn785Lys)
|
|
|
|
NM_000245.4(MET):c.2359A>G (p.Thr787Ala)
|
rs1180556775
|
|
|
NM_000245.4(MET):c.2360C>T (p.Thr787Ile)
|
rs2116939286
|
|
|
NM_000245.4(MET):c.2363T>C (p.Val788Ala)
|
rs786204142
|
|
|
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
|
|
|
|
NM_000245.4(MET):c.2365-3T>C
|
|
|
|
NM_000245.4(MET):c.236A>G (p.Gln79Arg)
|
rs1562883214
|
|
|
NM_000245.4(MET):c.2372A>C (p.Gln791Pro)
|
|
|
|
NM_000245.4(MET):c.2372A>G (p.Gln791Arg)
|
rs1794457657
|
|
|
NM_000245.4(MET):c.2373A>C (p.Gln791His)
|
rs760294359
|
|
|
NM_000245.4(MET):c.2373A>T (p.Gln791His)
|
rs760294359
|
|
|
NM_000245.4(MET):c.2374C>A (p.His792Asn)
|
|
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
|
NM_000245.4(MET):c.2378G>T (p.Arg793Leu)
|
rs199643166
|
|
|
NM_000245.4(MET):c.2380T>C (p.Ser794Pro)
|
rs2116953849
|
|
|
NM_000245.4(MET):c.2381C>A (p.Ser794Tyr)
|
rs371939364
|
|
|
NM_000245.4(MET):c.2383A>G (p.Asn795Asp)
|
rs200633053
|
|
|
NM_000245.4(MET):c.2389G>A (p.Glu797Lys)
|
rs1307693651
|
|
|
NM_000245.4(MET):c.2394A>G (p.Ile798Met)
|
|
|
|
NM_000245.4(MET):c.2395A>G (p.Ile799Val)
|
|
|
|
NM_000245.4(MET):c.2398T>A (p.Cys800Ser)
|
|
|
|
NM_000245.4(MET):c.2399G>T (p.Cys800Phe)
|
rs1209881740
|
|
|
NM_000245.4(MET):c.239A>G (p.Lys80Arg)
|
rs1791468662
|
|
|
NM_000245.4(MET):c.2401T>C (p.Cys801Arg)
|
rs1794461185
|
|
|
NM_000245.4(MET):c.2404A>G (p.Thr802Ala)
|
|
|
|
NM_000245.4(MET):c.2405C>T (p.Thr802Ile)
|
|
|
|
NM_000245.4(MET):c.2417T>C (p.Leu806Pro)
|
rs1390958903
|
|
|
NM_000245.4(MET):c.2418G>C (p.Leu806=)
|
|
|
|
NM_000245.4(MET):c.2419C>A (p.Gln807Lys)
|
rs2116954655
|
|
|
NM_000245.4(MET):c.2420A>G (p.Gln807Arg)
|
|
|
|
NM_000245.4(MET):c.2426T>C (p.Leu809Pro)
|
|
|
|
NM_000245.4(MET):c.2428A>G (p.Asn810Asp)
|
|
|
|
NM_000245.4(MET):c.242T>G (p.Val81Gly)
|
|
|
|
NM_000245.4(MET):c.2430T>A (p.Asn810Lys)
|
rs1160047047
|
|
|
NM_000245.4(MET):c.2431C>A (p.Leu811Met)
|
|
|
|
NM_000245.4(MET):c.2432T>A (p.Leu811Gln)
|
rs1554396554
|
|
|
NM_000245.4(MET):c.2432T>C (p.Leu811Pro)
|
rs1554396554
|
|
|
NM_000245.4(MET):c.2435A>T (p.Gln812Leu)
|
|
|
|
NM_000245.4(MET):c.2437C>T (p.Leu813Phe)
|
rs745345346
|
|
|
NM_000245.4(MET):c.2444T>C (p.Leu815Pro)
|
rs1554396571
|
|
|
NM_000245.4(MET):c.2453A>G (p.Lys818Arg)
|
|
|
|
NM_000245.4(MET):c.2455G>T (p.Ala819Ser)
|
|
|
|
NM_000245.4(MET):c.2456C>G (p.Ala819Gly)
|
|
|
|
NM_000245.4(MET):c.245C>T (p.Ala82Val)
|
rs1584876240
|
|
|
NM_000245.4(MET):c.2461T>A (p.Phe821Ile)
|
|
|
|
NM_000245.4(MET):c.2461T>C (p.Phe821Leu)
|
rs1794465668
|
|
|
NM_000245.4(MET):c.2462T>G (p.Phe821Cys)
|
|
|
|
NM_000245.4(MET):c.2464A>G (p.Met822Val)
|
rs368787826
|
|
|
NM_000245.4(MET):c.2464A>T (p.Met822Leu)
|
rs368787826
|
|
|
NM_000245.4(MET):c.2465T>C (p.Met822Thr)
|
rs1562925631
|
|
|
NM_000245.4(MET):c.2472T>G (p.Asp824Glu)
|
rs1463527073
|
|
|
NM_000245.4(MET):c.2474G>A (p.Gly825Glu)
|
rs1307584609
|
|
|
NM_000245.4(MET):c.2475G>T (p.Gly825=)
|
rs891908277
|
|
|
NM_000245.4(MET):c.2479C>T (p.Leu827Phe)
|
rs2116955879
|
|
|
NM_000245.4(MET):c.2487A>T (p.Lys829Asn)
|
|
|
|
NM_000245.4(MET):c.2488T>C (p.Tyr830His)
|
rs1794468017
|
|
|
NM_000245.4(MET):c.248A>C (p.Glu83Ala)
|
rs2116583864
|
|
|
NM_000245.4(MET):c.2495A>T (p.Asp832Val)
|
|
|
|
NM_000245.4(MET):c.2497C>T (p.Leu833Phe)
|
|
|
|
NM_000245.4(MET):c.24dup (p.Pro9fs)
|
|
|
|
NM_000245.4(MET):c.2500A>G (p.Ile834Val)
|
rs2116956205
|
|
|
NM_000245.4(MET):c.2501T>A (p.Ile834Asn)
|
rs1215872095
|
|
|
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
|
|
|
|
NM_000245.4(MET):c.2506G>A (p.Val836Ile)
|
rs372699296
|
|
|
NM_000245.4(MET):c.2506G>T (p.Val836Leu)
|
|
|
|
NM_000245.4(MET):c.2509C>T (p.His837Tyr)
|
rs1584947043
|
|
|
NM_000245.4(MET):c.2510A>C (p.His837Pro)
|
rs1041349799
|
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
|
NM_000245.4(MET):c.2515C>T (p.Pro839Ser)
|
|
|
|
NM_000245.4(MET):c.2527C>A (p.Pro843Thr)
|
rs905891313
|
|
|
NM_000245.4(MET):c.2527C>T (p.Pro843Ser)
|
|
|
|
NM_000245.4(MET):c.2528C>T (p.Pro843Leu)
|
rs762228405
|
|
|
NM_000245.4(MET):c.2533G>C (p.Glu845Gln)
|
rs1794470895
|
|
|
NM_000245.4(MET):c.2534A>G (p.Glu845Gly)
|
rs1794471154
|
|
|
NM_000245.4(MET):c.2538G>C (p.Lys846Asn)
|
rs1562925732
|
|
|
NM_000245.4(MET):c.2539C>T (p.Pro847Ser)
|
rs1562925733
|
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
|
NM_000245.4(MET):c.2540C>G (p.Pro847Arg)
|
rs2116956803
|
|
|
NM_000245.4(MET):c.2545A>G (p.Met849Val)
|
rs1584947097
|
|
|
NM_000245.4(MET):c.2547G>T (p.Met849Ile)
|
rs747989932
|
|
|
NM_000245.4(MET):c.2555T>C (p.Met852Thr)
|
rs369758288
|
|
|
NM_000245.4(MET):c.2557G>A (p.Gly853Ser)
|
rs45575240
|
|
|
NM_000245.4(MET):c.255G>T (p.Lys85Asn)
|
rs1327946446
|
|
|
NM_000245.4(MET):c.2561A>G (p.Asn854Ser)
|
rs2116957192
|
|
|
NM_000245.4(MET):c.2568T>G (p.Asn856Lys)
|
rs118057172
|
|
|
NM_000245.4(MET):c.2569G>A (p.Val857Ile)
|
rs1794474122
|
|
|
NM_000245.4(MET):c.2573T>G (p.Leu858Arg)
|
rs1794474295
|
|
|
NM_000245.4(MET):c.2575G>A (p.Glu859Lys)
|
|
|
|
NM_000245.4(MET):c.2582A>G (p.Lys861Arg)
|
rs895820328
|
|
|
NM_000245.4(MET):c.2583+3A>G
|
rs781401324
|
|
|
NM_000245.4(MET):c.2583+5G>A
|
rs1432247099
|
|
|
NM_000245.4(MET):c.2583G>A (p.Lys861=)
|
rs1584947168
|
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
|
NM_000245.4(MET):c.2584-5T>G
|
rs2116982294
|
|
|
NM_000245.4(MET):c.2585_2605del (p.Gly862_Glu868del)
|
|
|
|
NM_000245.4(MET):c.2587A>G (p.Asn863Asp)
|
|
|
|
NM_000245.4(MET):c.2588A>G (p.Asn863Ser)
|
rs1794766796
|
|
|
NM_000245.4(MET):c.2590G>A (p.Asp864Asn)
|
|
|
|
NM_000245.4(MET):c.2590G>T (p.Asp864Tyr)
|
rs1584953171
|
|
|
NM_000245.4(MET):c.2590_2592del (p.Asp864del)
|
|
|
|
NM_000245.4(MET):c.2596G>C (p.Asp866His)
|
|
|
|
NM_000245.4(MET):c.25C>A (p.Pro9Thr)
|
rs2116578170
|
|
|
NM_000245.4(MET):c.25C>T (p.Pro9Ser)
|
rs2116578170
|
|
|
NM_000245.4(MET):c.2606_2607delinsAG (p.Ala869Glu)
|
|
|
|
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
|
|
|
|
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
|
|
|
|
NM_000245.4(MET):c.2614G>A (p.Gly872Ser)
|
rs1794767589
|
|
|
NM_000245.4(MET):c.2615G>T (p.Gly872Val)
|
|
|
|
NM_000245.4(MET):c.2619A>G (p.Glu873=)
|
|
|
|
NM_000245.4(MET):c.2620G>A (p.Val874Met)
|
rs1299130122
|
|
|
NM_000245.4(MET):c.2626A>C (p.Lys876Gln)
|
rs368891381
|
|
|
NM_000245.4(MET):c.2629G>T (p.Val877Phe)
|
|
|
|
NM_000245.4(MET):c.262C>A (p.Pro88Thr)
|
|
|
|
NM_000245.4(MET):c.262C>G (p.Pro88Ala)
|
rs1169278904
|
|
|
NM_000245.4(MET):c.2638A>G (p.Lys880Glu)
|
rs2116983288
|
|
|
NM_000245.4(MET):c.2640G>C (p.Lys880Asn)
|
|
|
|
NM_000245.4(MET):c.2647G>A (p.Glu883Lys)
|
rs769253547
|
|
|
NM_000245.4(MET):c.2653A>G (p.Ile885Val)
|
rs1584953249
|
|
|
NM_000245.4(MET):c.2656C>G (p.His886Asp)
|
rs1209392687
|
|
|
NM_000245.4(MET):c.2657A>G (p.His886Arg)
|
rs2116983578
|
|
|
NM_000245.4(MET):c.265G>A (p.Val89Met)
|
rs1060503544
|
|
|
NM_000245.4(MET):c.2662C>G (p.His888Asp)
|
rs115574135
|
|
|
NM_000245.4(MET):c.2663A>G (p.His888Arg)
|
rs1584953276
|
|
|
NM_000245.4(MET):c.2670A>C (p.Glu890Asp)
|
|
|
|
NM_000245.4(MET):c.2672C>G (p.Ala891Gly)
|
rs1562929174
|
|
|
NM_000245.4(MET):c.2672C>T (p.Ala891Val)
|
rs1562929174
|
|
|
NM_000245.4(MET):c.2697C>G (p.Asp899Glu)
|
|
|
|
NM_000245.4(MET):c.2698C>A (p.Leu900Met)
|
rs1398243931
|
|
|
NM_000245.4(MET):c.269T>C (p.Leu90Pro)
|
rs1291977283
|
|
|
NM_000245.4(MET):c.26C>T (p.Pro9Leu)
|
rs1355886011
|
|
|
NM_000245.4(MET):c.2701C>G (p.Leu901Val)
|
rs1384134548
|
|
|
NM_000245.4(MET):c.2711A>G (p.Asn904Ser)
|
rs765441927
|
|
|
NM_000245.4(MET):c.272A>G (p.Glu91Gly)
|
rs1791471735
|
|
|
NM_000245.4(MET):c.2730+1G>A
|
|
|
|
NM_000245.4(MET):c.2736G>C (p.Lys912Asn)
|
rs1794830011
|
|
|
NM_000245.4(MET):c.2737C>A (p.Gln913Lys)
|
rs1794830159
|
|
|
NM_000245.4(MET):c.2737C>G (p.Gln913Glu)
|
|
|
|
NM_000245.4(MET):c.2739A>C (p.Gln913His)
|
|
|
|
NM_000245.4(MET):c.2740G>A (p.Ala914Thr)
|
|
|
|
NM_000245.4(MET):c.2745T>G (p.Ile915Met)
|
rs1554398244
|
|
|
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr)
|
rs1288860579
|
|
|
NM_000245.4(MET):c.2747C>T (p.Ser916Phe)
|
rs1288860579
|
|
|
NM_000245.4(MET):c.274C>G (p.His92Asp)
|
rs1375872823
|
|
|
NM_000245.4(MET):c.275A>G (p.His92Arg)
|
|
|
|
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
|
|
|
|
NM_000245.4(MET):c.2766A>G (p.Lys922=)
|
|
|
|
NM_000245.4(MET):c.2767G>A (p.Val923Ile)
|
rs1794832354
|
|
|
NM_000245.4(MET):c.2767G>C (p.Val923Leu)
|
rs1794832354
|
|
|
NM_000245.4(MET):c.2770A>G (p.Ile924Val)
|
rs1247472138
|
|
|
NM_000245.4(MET):c.2773G>A (p.Val925Ile)
|
rs1794833108
|
|
|
NM_000245.4(MET):c.2774T>C (p.Val925Ala)
|
rs922442405
|
|
|
NM_000245.4(MET):c.2777A>G (p.Gln926Arg)
|
rs1464316950
|
|
|
NM_000245.4(MET):c.277C>T (p.Pro93Ser)
|
rs527638748
|
|
|
NM_000245.4(MET):c.2786A>G (p.Gln929Arg)
|
rs1794833626
|
|
|
NM_000245.4(MET):c.278C>G (p.Pro93Arg)
|
rs1306740707
|
|
|
NM_000245.4(MET):c.278C>T (p.Pro93Leu)
|
rs1306740707
|
|
|
NM_000245.4(MET):c.2791T>A (p.Phe931Ile)
|
rs1562930067
|
|
|
NM_000245.4(MET):c.2794A>C (p.Thr932Pro)
|
|
|
|
NM_000245.4(MET):c.2803A>G (p.Ile935Val)
|
rs1420349380
|
|
|
NM_000245.4(MET):c.2805T>G (p.Ile935Met)
|
|
|
|
NM_000245.4(MET):c.2806G>A (p.Ala936Thr)
|
rs1794834628
|
|
|
NM_000245.4(MET):c.2806G>C (p.Ala936Pro)
|
|
|
|
NM_000245.4(MET):c.2806G>T (p.Ala936Ser)
|
rs1794834628
|
|
|
NM_000245.4(MET):c.2807C>T (p.Ala936Val)
|
|
|
|
NM_000245.4(MET):c.2809G>A (p.Gly937Ser)
|
|
|
|
NM_000245.4(MET):c.280G>A (p.Asp94Asn)
|
rs899151863
|
|
|
NM_000245.4(MET):c.2813T>C (p.Val938Ala)
|
rs1554398288
|
|
|
NM_000245.4(MET):c.2822T>G (p.Ile941Arg)
|
|
|
|
NM_000245.4(MET):c.2823A>G (p.Ile941Met)
|
|
|
|
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)
|
rs2116992551
|
|
|
NM_000245.4(MET):c.2830G>A (p.Ala944Thr)
|
rs2116992583
|
|
|
NM_000245.4(MET):c.2842C>A (p.Leu948Ile)
|
|
|
|
NM_000245.4(MET):c.2843T>C (p.Leu948Pro)
|
rs2116992766
|
|
|
NM_000245.4(MET):c.2845C>T (p.Leu949Phe)
|
|
|
|
NM_000245.4(MET):c.2849G>A (p.Gly950Glu)
|
rs2116992857
|
|
|
NM_000245.4(MET):c.2849G>T (p.Gly950Val)
|
rs2116992857
|
|
|
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
|
|
|
|
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
|
|
|
|
NM_000245.4(MET):c.2864T>A (p.Leu955Gln)
|
rs879254335
|
|
|
NM_000245.4(MET):c.2866A>G (p.Lys956Glu)
|
|
|
|
NM_000245.4(MET):c.2870A>T (p.Lys957Met)
|
rs1794836962
|
|
|
NM_000245.4(MET):c.2873G>A (p.Arg958Lys)
|
|
|
|
NM_000245.4(MET):c.2878C>A (p.Gln960Lys)
|
rs2116993223
|
|
|
NM_000245.4(MET):c.287T>G (p.Phe96Cys)
|
rs371941340
|
|
|
NM_000245.4(MET):c.2880A>T (p.Gln960His)
|
rs2116993238
|
|
|
NM_000245.4(MET):c.2887+1G>T
|
|
|
|
NM_000245.4(MET):c.2887+3G>A
|
|
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
|
NM_000245.4(MET):c.2887+6T>C
|
rs1584955059
|
|
|
NM_000245.4(MET):c.2888-6T>G
|
rs1562930263
|
|
|
NM_000245.4(MET):c.2888A>G (p.Asp963Gly)
|
rs1554398360
|
|
|
NM_000245.4(MET):c.2892G>A (p.Leu964=)
|
rs1584955273
|
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
|
NM_000245.4(MET):c.2897G>A (p.Ser966Asn)
|
rs1460031754
|
|
|
NM_000245.4(MET):c.2905G>T (p.Val969Phe)
|
rs757925979
|
|
|
NM_000245.4(MET):c.2906T>C (p.Val969Ala)
|
|
|
|
NM_000245.4(MET):c.2909G>C (p.Arg970Pro)
|
rs45607832
|
|
|
NM_000245.4(MET):c.2909G>T (p.Arg970Leu)
|
|
|
|
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
|
|
|
|
NM_000245.4(MET):c.2911_2912insGAGT (p.Tyr971Ter)
|
|
|
|
NM_000245.4(MET):c.2912A>G (p.Tyr971Cys)
|
rs780819058
|
|
|
NM_000245.4(MET):c.2912A>T (p.Tyr971Phe)
|
|
|
|
NM_000245.4(MET):c.2917G>A (p.Ala973Thr)
|
rs1584955330
|
|
|
NM_000245.4(MET):c.2918C>G (p.Ala973Gly)
|
|
|
|
NM_000245.4(MET):c.2920A>G (p.Arg974Gly)
|
|
|
|
NM_000245.4(MET):c.2921G>A (p.Arg974Lys)
|
|
|
|
NM_000245.4(MET):c.2921_2946del (p.Arg974fs)
|
|
|
|
NM_000245.4(MET):c.2926C>T (p.His976Tyr)
|
|
|
|
NM_000245.4(MET):c.2927A>G (p.His976Arg)
|
|
|
|
NM_000245.4(MET):c.2929A>G (p.Thr977Ala)
|
rs1554398378
|
|
|
NM_000245.4(MET):c.292T>C (p.Cys98Arg)
|
rs1791473262
|
|
|
NM_000245.4(MET):c.2930C>T (p.Thr977Ile)
|
rs1794847178
|
|
|
NM_000245.4(MET):c.2933C>T (p.Pro978Leu)
|
rs1060503540
|
|
|
NM_000245.4(MET):c.2941G>A (p.Asp981Asn)
|
rs1794847447
|
|
|
NM_000245.4(MET):c.2941G>C (p.Asp981His)
|
rs1794847447
|
|
|
NM_000245.4(MET):c.2941G>T (p.Asp981Tyr)
|
rs1794847447
|
|
|
NM_000245.4(MET):c.2946G>C (p.Arg982Ser)
|
rs1554398390
|
|
|
NM_000245.4(MET):c.2950G>A (p.Val984Ile)
|
rs1258377870
|
|
|
NM_000245.4(MET):c.2951T>C (p.Val984Ala)
|
rs1794847963
|
|
|
NM_000245.4(MET):c.2951dup (p.Ser985fs)
|
|
|
|
NM_000245.4(MET):c.2954G>C (p.Ser985Thr)
|
rs779906308
|
|
|
NM_000245.4(MET):c.2956G>T (p.Ala986Ser)
|
rs1794848174
|
|
|
NM_000245.4(MET):c.2959C>T (p.Arg987Ter)
|
rs1554398397
|
|
|
NM_000245.4(MET):c.2960G>A (p.Arg987Gln)
|
rs910937816
|
|
|
NM_000245.4(MET):c.2965G>A (p.Val989Ile)
|
rs1442896663
|
|
|
NM_000245.4(MET):c.2974A>T (p.Thr992Ser)
|
|
|
|
NM_000245.4(MET):c.2983A>G (p.Met995Val)
|
rs1794849768
|
|
|
NM_000245.4(MET):c.2987T>C (p.Val996Ala)
|
rs1554398418
|
|
|
NM_000245.4(MET):c.298G>C (p.Asp100His)
|
rs1554378400
|
|
|
NM_000245.4(MET):c.2992A>G (p.Asn998Asp)
|
|
|
|
NM_000245.4(MET):c.2995G>C (p.Glu999Gln)
|
rs1404824650
|
|
|
NM_000245.4(MET):c.2996A>T (p.Glu999Val)
|
rs912927724
|
|
|
NM_000245.4(MET):c.299A>G (p.Asp100Gly)
|
rs1791473592
|
|
|
NM_000245.4(MET):c.29G>A (p.Gly10Asp)
|
rs919828654
|
|
|
NM_000245.4(MET):c.3001del (p.Ser1000_Val1001insTer)
|
|
|
|
NM_000245.4(MET):c.3005A>G (p.Asp1002Gly)
|
rs1794850672
|
|
|
NM_000245.4(MET):c.3008A>G (p.Tyr1003Cys)
|
|
|
|
NM_000245.4(MET):c.3011G>A (p.Arg1004Gln)
|
|
|
|
NM_000245.4(MET):c.3013G>A (p.Ala1005Thr)
|
rs2116997594
|
|
|
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser)
|
rs1794851181
|
|
|
NM_000245.4(MET):c.3023C>T (p.Pro1008Leu)
|
|
|
|
NM_000245.4(MET):c.3026A>C (p.Glu1009Ala)
|
|
|
|
NM_000245.4(MET):c.3028+3A>G
|
|
|
|
NM_000245.4(MET):c.3028+5A>G
|
|
|
|
NM_000245.4(MET):c.3029-1G>A
|
rs2117029383
|
|
|
NM_000245.4(MET):c.3029-2A>G
|
rs2117029370
|
|
|
NM_000245.4(MET):c.3029A>C (p.Asp1010Ala)
|
rs2117029391
|
|
|
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu)
|
rs1584957663
|
|
|
NM_000245.4(MET):c.3031del (p.Gln1011fs)
|
|
|
|
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser)
|
rs1794945602
|
|
|
NM_000245.4(MET):c.3038C>G (p.Pro1013Arg)
|
rs1203610182
|
|
|
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser)
|
rs2117029538
|
|
|
NM_000245.4(MET):c.3048_3049delinsAA (p.Gln1017Lys)
|
rs2117029651
|
|
|
NM_000245.4(MET):c.3049C>G (p.Gln1017Glu)
|
rs1794946568
|
|
|
NM_000245.4(MET):c.3050A>G (p.Gln1017Arg)
|
|
|
|
NM_000245.4(MET):c.3053A>G (p.Asn1018Ser)
|
|
|
|
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser)
|
rs950642030
|
|
|
NM_000245.4(MET):c.3061T>C (p.Cys1021Arg)
|
rs2117029846
|
|
|
NM_000245.4(MET):c.3064C>G (p.Arg1022Gly)
|
rs1193441628
|
|
|
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu)
|
rs45612435
|
|
|
NM_000245.4(MET):c.3065_3067del (p.Arg1022del)
|
rs2117029920
|
|
|
NM_000245.4(MET):c.3070G>A (p.Val1024Met)
|
rs1584957724
|
|
|
NM_000245.4(MET):c.3071T>C (p.Val1024Ala)
|
rs2117030004
|
|
|
NM_000245.4(MET):c.3071T>G (p.Val1024Gly)
|
|
|
|
NM_000245.4(MET):c.3074A>G (p.Gln1025Arg)
|
rs1794947477
|
|
|
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala)
|
rs373419003
|
|
|
NM_000245.4(MET):c.3083T>C (p.Leu1028Pro)
|
|
|
|
NM_000245.4(MET):c.3086C>T (p.Thr1029Ile)
|
|
|
|
NM_000245.4(MET):c.3092T>C (p.Met1031Thr)
|
rs1255185058
|
|
|
NM_000245.4(MET):c.3094T>A (p.Ser1032Thr)
|
rs2117030307
|
|
|
NM_000245.4(MET):c.3097C>G (p.Pro1033Ala)
|
rs1294910019
|
|
|
NM_000245.4(MET):c.3098C>G (p.Pro1033Arg)
|
|
|
|
NM_000245.4(MET):c.3100A>G (p.Ile1034Val)
|
rs993773653
|
|
|
NM_000245.4(MET):c.3106A>T (p.Thr1036Ser)
|
|
|
|
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly)
|
rs1794948966
|
|
|
NM_000245.4(MET):c.3112G>T (p.Gly1038Trp)
|
|
|
|
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn)
|
rs777748634
|
|
|
NM_000245.4(MET):c.3115G>C (p.Asp1039His)
|
|
|
|
NM_000245.4(MET):c.3115del (p.Asp1039fs)
|
|
|
|
NM_000245.4(MET):c.3116A>G (p.Asp1039Gly)
|
rs1794949125
|
|
|
NM_000245.4(MET):c.3117C>A (p.Asp1039Glu)
|
rs575907920
|
|
|
NM_000245.4(MET):c.3117C>G (p.Asp1039Glu)
|
rs575907920
|
|
|
NM_000245.4(MET):c.3126A>G (p.Ile1042Met)
|
rs1237033724
|
|
|
NM_000245.4(MET):c.3127T>C (p.Ser1043Pro)
|
rs2117030729
|
|
|
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr)
|
rs1267419620
|
|
|
NM_000245.4(MET):c.312A>C (p.Lys104Asn)
|
rs1554378412
|
|
|
NM_000245.4(MET):c.312A>T (p.Lys104Asn)
|
rs1554378412
|
|
|
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys)
|
rs1357266763
|
|
|
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
|
|
|
|
NM_000245.4(MET):c.3131_3143del (p.Ser1044fs)
|
|
|
|
NM_000245.4(MET):c.3132T>A (p.Ser1044Arg)
|
rs746291237
|
|
|
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro)
|
rs1794950215
|
|
|
NM_000245.4(MET):c.3143A>G (p.Gln1048Arg)
|
|
|
|
NM_000245.4(MET):c.3148A>G (p.Thr1050Ala)
|
rs1794950502
|
|
|
NM_000245.4(MET):c.3149C>A (p.Thr1050Asn)
|
rs1179812872
|
|
|
NM_000245.4(MET):c.3149C>T (p.Thr1050Ile)
|
rs1179812872
|
|
|
NM_000245.4(MET):c.3151G>A (p.Val1051Ile)
|
rs775997318
|
|
|
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
|
|
|
|
NM_000245.4(MET):c.3151G>T (p.Val1051Phe)
|
|
|
|
NM_000245.4(MET):c.3156_3166del (p.His1052fs)
|
|
|
|
NM_000245.4(MET):c.3157A>G (p.Ile1053Val)
|
rs1278254320
|
|
|
NM_000245.4(MET):c.3158T>C (p.Ile1053Thr)
|
|
|
|
NM_000245.4(MET):c.3160G>A (p.Asp1054Asn)
|
rs2117031109
|
|
|
NM_000245.4(MET):c.3160G>T (p.Asp1054Tyr)
|
|
|
|
NM_000245.4(MET):c.3161A>T (p.Asp1054Val)
|
rs2117031126
|
|
|
NM_000245.4(MET):c.3162C>A (p.Asp1054Glu)
|
|
|
|
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile)
|
rs1060503534
|
|
|
NM_000245.4(MET):c.3163C>G (p.Leu1055Val)
|
rs1060503534
|
|
|
NM_000245.4(MET):c.3166A>G (p.Ser1056Gly)
|
|
|
|
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
|
|
|
|
NM_000245.4(MET):c.3175A>C (p.Asn1059His)
|
rs1794951633
|
|
|
NM_000245.4(MET):c.3181G>A (p.Glu1061Lys)
|
rs2117031426
|
|
|
NM_000245.4(MET):c.3181G>C (p.Glu1061Gln)
|
rs2117031426
|
|
|
NM_000245.4(MET):c.3183G>C (p.Glu1061Asp)
|
rs1554398889
|
|
|
NM_000245.4(MET):c.3194C>T (p.Ala1065Val)
|
rs2117031577
|
|
|
NM_000245.4(MET):c.3197T>A (p.Val1066Glu)
|
rs2117031615
|
|
|
NM_000245.4(MET):c.3199C>G (p.Gln1067Glu)
|
rs45628136
|
|
|
NM_000245.4(MET):c.31A>G (p.Ile11Val)
|
rs1584875601
|
|
|
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu)
|
rs1554398900
|
|
|
NM_000245.4(MET):c.3202C>T (p.His1068Tyr)
|
rs1330566980
|
|
|
NM_000245.4(MET):c.3203A>C (p.His1068Pro)
|
rs767587065
|
|
|
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
|
|
|
|
NM_000245.4(MET):c.3204T>A (p.His1068Gln)
|
rs1397743069
|
|
|
NM_000245.4(MET):c.3204T>G (p.His1068Gln)
|
rs1397743069
|
|
|
NM_000245.4(MET):c.3206T>C (p.Val1069Ala)
|
rs1794953455
|
|
|
NM_000245.4(MET):c.3208G>T (p.Val1070Leu)
|
rs760285693
|
|
|
NM_000245.4(MET):c.3214G>A (p.Gly1072Arg)
|
|
|
|
NM_000245.4(MET):c.3215G>A (p.Gly1072Glu)
|
rs1584957937
|
|
|
NM_000245.4(MET):c.3215G>C (p.Gly1072Ala)
|
|
|
|
NM_000245.4(MET):c.3217C>A (p.Pro1073Thr)
|
|
|
|
NM_000245.4(MET):c.321A>T (p.Leu107Phe)
|
rs1040920548
|
|
|
NM_000245.4(MET):c.3230T>A (p.Ile1077Asn)
|
|
|
|
NM_000245.4(MET):c.3231T>G (p.Ile1077Met)
|
rs1251215478
|
|
|
NM_000245.4(MET):c.3233T>C (p.Val1078Ala)
|
|
|
|
NM_000245.4(MET):c.3236A>C (p.His1079Pro)
|
rs758292223
|
|
|
NM_000245.4(MET):c.3244G>A (p.Glu1082Lys)
|
|
|
|
NM_000245.4(MET):c.3245A>T (p.Glu1082Val)
|
|
|
|
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)
|
rs1794955289
|
|
|
NM_000245.4(MET):c.3247G>A (p.Val1083Ile)
|
rs1794955378
|
|
|
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu)
|
rs1562931818
|
|
|
NM_000245.4(MET):c.3254G>C (p.Gly1085Ala)
|
|
|
|
NM_000245.4(MET):c.3257G>A (p.Arg1086Lys)
|
rs2117032447
|
|
|
NM_000245.4(MET):c.3259+4A>G
|
|
|
|
NM_000245.4(MET):c.3259+5G>A
|
rs1794955894
|
|
|
NM_000245.4(MET):c.3263A>G (p.His1088Arg)
|
rs786204102
|
|
|
NM_000245.4(MET):c.3268G>T (p.Gly1090Cys)
|
|
|
|
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg)
|
rs751556706
|
|
|
NM_000245.4(MET):c.3274G>T (p.Val1092Leu)
|
|
|
|
NM_000245.4(MET):c.3282T>G (p.His1094Gln)
|
rs1185332869
|
|
|
NM_000245.4(MET):c.3284G>A (p.Gly1095Glu)
|
rs1795029105
|
|
|
NM_000245.4(MET):c.3284G>C (p.Gly1095Ala)
|
rs1795029105
|
|
|
NM_000245.4(MET):c.3287C>G (p.Thr1096Ser)
|
rs45592846
|
|
|
NM_000245.4(MET):c.3287C>T (p.Thr1096Ile)
|
rs45592846
|
|
|
NM_000245.4(MET):c.328G>A (p.Gly110Ser)
|
|
|
|
NM_000245.4(MET):c.3291G>T (p.Leu1097Phe)
|
rs2117039952
|
|
|
NM_000245.4(MET):c.3295G>A (p.Asp1099Asn)
|
|
|
|
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser)
|
rs1795029901
|
|
|
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn)
|
rs749678495
|
|
|
NM_000245.4(MET):c.3302A>G (p.Asp1101Gly)
|
|
|
|
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
|
|
|
|
NM_000245.4(MET):c.3305G>A (p.Gly1102Asp)
|
rs1060503533
|
|
|
NM_000245.4(MET):c.3312A>C (p.Lys1104Asn)
|
|
|
|
NM_000245.4(MET):c.3313A>G (p.Ile1105Val)
|
rs2117040207
|
|
|
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
|
|
|
|
NM_000245.4(MET):c.3316C>T (p.His1106Tyr)
|
rs1795030662
|
|
|
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
|
|
|
|
NM_000245.4(MET):c.3326T>A (p.Val1109Glu)
|
|
|
|
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys)
|
rs1584960002
|
|
|
NM_000245.4(MET):c.3338A>T (p.Asn1113Ile)
|
rs2117040446
|
|
|
NM_000245.4(MET):c.3339C>G (p.Asn1113Lys)
|
rs1214629015
|
|
|
NM_000245.4(MET):c.3340+2dup
|
rs1554399352
|
|
|
NM_000245.4(MET):c.3340+5G>A
|
|
|
|
NM_000245.4(MET):c.3340+5del
|
|
|
|
NM_000245.4(MET):c.3340+6T>A
|
|
|
|
NM_000245.4(MET):c.3340+6T>C
|
rs1240062915
|
|
|
NM_000245.4(MET):c.3341-11G>A
|
|
|
|
NM_000245.4(MET):c.3341-8T>C
|
rs1323109627
|
|
|
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu)
|
rs2117044727
|
|
|
NM_000245.4(MET):c.3344T>C (p.Ile1115Thr)
|
rs1795065701
|
|
|
NM_000245.4(MET):c.3346A>G (p.Thr1116Ala)
|
rs2117044784
|
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
|
NM_000245.4(MET):c.3353T>C (p.Ile1118Thr)
|
rs1795065976
|
|
|
NM_000245.4(MET):c.3356_3358del (p.Gly1119del)
|
rs1584961122
|
|
|
NM_000245.4(MET):c.3362T>C (p.Val1121Ala)
|
|
|
|
NM_000245.4(MET):c.3365C>A (p.Ser1122Tyr)
|
|
|
|
NM_000245.4(MET):c.3367C>T (p.Gln1123Ter)
|
|
|
|
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg)
|
rs2117045243
|
|
|
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
|
|
|
|
NM_000245.4(MET):c.3379G>A (p.Glu1127Lys)
|
rs1158021755
|
|
|
NM_000245.4(MET):c.3381G>A (p.Glu1127=)
|
|
|
|
NM_000245.4(MET):c.3382G>A (p.Gly1128Arg)
|
|
|
|
NM_000245.4(MET):c.3397G>A (p.Asp1133Asn)
|
rs745437003
|
|
|
NM_000245.4(MET):c.3397G>T (p.Asp1133Tyr)
|
rs745437003
|
|
|
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
|
|
|
|
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn)
|
rs1795069423
|
|
|
NM_000245.4(MET):c.3405T>G (p.Ser1135Arg)
|
rs1554399556
|
|
|
NM_000245.4(MET):c.3409C>A (p.Pro1137Thr)
|
|
|
|
NM_000245.4(MET):c.340G>A (p.Asp114Asn)
|
rs2116586335
|
|
|
NM_000245.4(MET):c.340G>T (p.Asp114Tyr)
|
rs2116586335
|
|
|
NM_000245.4(MET):c.3410C>T (p.Pro1137Leu)
|
rs2117046293
|
|
|
NM_000245.4(MET):c.3413A>T (p.Asn1138Ile)
|
rs2117046370
|
|
|
NM_000245.4(MET):c.3415G>A (p.Val1139Ile)
|
rs1795069790
|
|
|
NM_000245.4(MET):c.3415G>T (p.Val1139Phe)
|
|
|
|
NM_000245.4(MET):c.3418C>T (p.Leu1140Phe)
|
rs1333930330
|
|
|
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln)
|
rs1795070394
|
|
|
NM_000245.4(MET):c.3437G>A (p.Cys1146Tyr)
|
rs1795070664
|
|
|
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
|
|
|
|
NM_000245.4(MET):c.343A>G (p.Asn115Asp)
|
|
|
|
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter)
|
rs879254336
|
|
|
NM_000245.4(MET):c.3443del (p.Arg1148fs)
|
|
|
|
NM_000245.4(MET):c.3446G>A (p.Ser1149Asn)
|
rs1795071435
|
|
|
NM_000245.4(MET):c.3446G>C (p.Ser1149Thr)
|
rs1795071435
|
|
|
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu)
|
rs1795071897
|
|
|
NM_000245.4(MET):c.345C>G (p.Asn115Lys)
|
|
|
|
NM_000245.4(MET):c.3467T>C (p.Val1156Ala)
|
rs2117047452
|
|
|
NM_000245.4(MET):c.346A>G (p.Ile116Val)
|
rs1554378434
|
|
|
NM_000245.4(MET):c.3475T>C (p.Tyr1159His)
|
rs2117047603
|
|
|
NM_000245.4(MET):c.3478A>G (p.Met1160Val)
|
rs1554399597
|
|
|
NM_000245.4(MET):c.347T>A (p.Ile116Asn)
|
|
|
|
NM_000245.4(MET):c.3488G>A (p.Gly1163Glu)
|
rs879254338
|
|
|
NM_000245.4(MET):c.348C>G (p.Ile116Met)
|
rs2116586543
|
|
|
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
|
|
|
|
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter)
|
rs1795073205
|
|
|
NM_000245.4(MET):c.3500A>G (p.Asn1167Ser)
|
|
|
|
NM_000245.4(MET):c.3503T>C (p.Phe1168Ser)
|
|
|
|
NM_000245.4(MET):c.3505A>C (p.Ile1169Leu)
|
|
|
|
NM_000245.4(MET):c.3505A>G (p.Ile1169Val)
|
rs752109953
|
|
|
NM_000245.4(MET):c.3508C>G (p.Arg1170Gly)
|
rs200754673
|
|
|
NM_000245.4(MET):c.3509G>C (p.Arg1170Pro)
|
rs369838973
|
|
|
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu)
|
rs369838973
|
|
|
NM_000245.4(MET):c.350A>G (p.Asn117Ser)
|
|
|
|
NM_000245.4(MET):c.3513T>G (p.Asn1171Lys)
|
|
|
|
NM_000245.4(MET):c.3518C>G (p.Thr1173Ser)
|
rs121913675
|
|
|
NM_000245.4(MET):c.3520C>T (p.His1174Tyr)
|
rs1795074297
|
|
|
NM_000245.4(MET):c.3523-3C>T
|
rs763246917
|
|
|
NM_000245.4(MET):c.3523A>C (p.Asn1175His)
|
|
|
|
NM_000245.4(MET):c.3524A>C (p.Asn1175Thr)
|
rs1554400071
|
|
|
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
|
|
|
|
NM_000245.4(MET):c.3529A>G (p.Thr1177Ala)
|
|
|
|
NM_000245.4(MET):c.352A>G (p.Met118Val)
|
rs1060503538
|
|
|
NM_000245.4(MET):c.3532G>A (p.Val1178Ile)
|
rs1584964221
|
|
|
NM_000245.4(MET):c.3538G>T (p.Asp1180Tyr)
|
|
|
|
NM_000245.4(MET):c.353T>C (p.Met118Thr)
|
|
|
|
NM_000245.4(MET):c.353T>G (p.Met118Arg)
|
rs2116586678
|
|
|
NM_000245.4(MET):c.3544A>G (p.Ile1182Val)
|
rs1795171767
|
|
|
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr)
|
rs1795171887
|
|
|
NM_000245.4(MET):c.3547G>A (p.Gly1183Ser)
|
|
|
|
NM_000245.4(MET):c.3548G>A (p.Gly1183Asp)
|
|
|
|
NM_000245.4(MET):c.354G>A (p.Met118Ile)
|
rs1562883374
|
|
|
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
|
|
|
|
NM_000245.4(MET):c.3561A>T (p.Gln1187His)
|
|
|
|
NM_000245.4(MET):c.3562G>A (p.Val1188Ile)
|
rs121913669
|
|
|
NM_000245.4(MET):c.3563_3564del (p.Val1188fs)
|
rs1562935204
|
|
|
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr)
|
rs1348453406
|
|
|
NM_000245.4(MET):c.3568A>G (p.Lys1190Glu)
|
|
|
|
NM_000245.4(MET):c.3573C>T (p.Gly1191=)
|
|
|
|
NM_000245.4(MET):c.3576G>C (p.Met1192Ile)
|
|
|
|
NM_000245.4(MET):c.3578A>G (p.Lys1193Arg)
|
|
|
|
NM_000245.4(MET):c.3583C>T (p.Leu1195Phe)
|
rs121913673
|
|
|
NM_000245.4(MET):c.3584T>A (p.Leu1195His)
|
|
|
|
NM_000245.4(MET):c.3589A>G (p.Ser1197Gly)
|
|
|
|
NM_000245.4(MET):c.3589A>T (p.Ser1197Cys)
|
rs2117060265
|
|
|
NM_000245.4(MET):c.358C>G (p.Leu120Val)
|
|
|
|
NM_000245.4(MET):c.3592A>G (p.Lys1198Glu)
|
rs2117060312
|
|
|
NM_000245.4(MET):c.3596A>G (p.Lys1199Arg)
|
rs2117060357
|
|
|
NM_000245.4(MET):c.3598T>C (p.Phe1200Leu)
|
rs1554400099
|
|
|
NM_000245.4(MET):c.3601G>A (p.Val1201Ile)
|
rs778646229
|
|
|
NM_000245.4(MET):c.3612C>G (p.Asp1204Glu)
|
|
|
|
NM_000245.4(MET):c.3616G>A (p.Ala1206Thr)
|
rs2117060579
|
|
|
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
|
|
|
|
NM_000245.4(MET):c.361G>A (p.Val121Ile)
|
|
|
|
NM_000245.4(MET):c.3633-2A>G
|
rs879254337
|
|
|
NM_000245.4(MET):c.3634C>A (p.Leu1212Met)
|
|
|
|
NM_000245.4(MET):c.3636G>A (p.Leu1212=)
|
|
|
|
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys)
|
rs1261418076
|
|
|
NM_000245.4(MET):c.3648C>A (p.Phe1216Leu)
|
rs1584965464
|
|
|
NM_000245.4(MET):c.364G>A (p.Val122Ile)
|
rs2116586974
|
|
|
NM_000245.4(MET):c.3653T>C (p.Val1218Ala)
|
rs1191381216
|
|
|
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
|
|
|
|
NM_000245.4(MET):c.3657G>C (p.Lys1219Asn)
|
rs1795207276
|
|
|
NM_000245.4(MET):c.365T>C (p.Val122Ala)
|
|
|
|
NM_000245.4(MET):c.3661_3662delinsAT (p.Ala1221Ile)
|
|
|
|
NM_000245.4(MET):c.3679A>G (p.Arg1227Gly)
|
rs2117065927
|
|
|
NM_000245.4(MET):c.367G>A (p.Asp123Asn)
|
rs760106468
|
|
|
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
|
|
|
|
NM_000245.4(MET):c.3687G>A (p.Met1229Ile)
|
|
|
|
NM_000245.4(MET):c.3688T>G (p.Tyr1230Asp)
|
rs121913247
|
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
|
NM_000245.4(MET):c.368A>T (p.Asp123Val)
|
|
|
|
NM_000245.4(MET):c.3691G>A (p.Asp1231Asn)
|
rs1168862161
|
|
|
NM_000245.4(MET):c.36C>A (p.Leu12=)
|
rs188625702
|
|
|
NM_000245.4(MET):c.3704A>G (p.Tyr1235Cys)
|
|
|
|
NM_000245.4(MET):c.3709G>A (p.Val1237Ile)
|
rs1031263507
|
|
|
NM_000245.4(MET):c.3709G>T (p.Val1237Leu)
|
|
|
|
NM_000245.4(MET):c.3713A>T (p.His1238Leu)
|
rs1562935856
|
|
|
NM_000245.4(MET):c.3714C>G (p.His1238Gln)
|
|
|
|
NM_000245.4(MET):c.3717C>A (p.Asn1239Lys)
|
rs2117066535
|
|
|
NM_000245.4(MET):c.3719A>G (p.Lys1240Arg)
|
|
|
|
NM_000245.4(MET):c.371C>A (p.Thr124Asn)
|
|
|
|
NM_000245.4(MET):c.371C>T (p.Thr124Ile)
|
rs1791477416
|
|
|
NM_000245.4(MET):c.3725G>T (p.Gly1242Val)
|
rs776086430
|
|
|
NM_000245.4(MET):c.3731A>C (p.Lys1244Thr)
|
rs121913677
|
|
|
NM_000245.4(MET):c.3739G>A (p.Val1247Met)
|
rs1562935903
|
|
|
NM_000245.4(MET):c.373T>A (p.Tyr125Asn)
|
|
|
|
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
|
|
|
|
NM_000245.4(MET):c.374A>G (p.Tyr125Cys)
|
|
|
|
NM_000245.4(MET):c.3757G>A (p.Glu1253Lys)
|
|
|
|
NM_000245.4(MET):c.3760A>C (p.Ser1254Arg)
|
|
|
|
NM_000245.4(MET):c.3767A>G (p.Gln1256Arg)
|
|
|
|
NM_000245.4(MET):c.376T>C (p.Tyr126His)
|
|
|
|
NM_000245.4(MET):c.3772C>T (p.Gln1258Ter)
|
rs1795213262
|
|
|
NM_000245.4(MET):c.3778T>C (p.Phe1260Leu)
|
|
|
|
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
|
|
|
|
NM_000245.4(MET):c.3784A>G (p.Thr1262Ala)
|
|
|
|
NM_000245.4(MET):c.3790T>A (p.Ser1264Thr)
|
|
|
|
NM_000245.4(MET):c.3790T>C (p.Ser1264Pro)
|
rs1795214265
|
|
|
NM_000245.4(MET):c.3794A>T (p.Asp1265Val)
|
rs2117067679
|
|
|
NM_000245.4(MET):c.3797T>A (p.Val1266Glu)
|
rs2117067730
|
|
|
NM_000245.4(MET):c.3798+1G>A
|
rs1795214615
|
|
|
NM_000245.4(MET):c.3798+6G>A
|
rs2117067806
|
|
|
NM_000245.4(MET):c.3799-3T>A
|
rs1584977801
|
|
|
NM_000245.4(MET):c.379G>A (p.Asp127Asn)
|
|
|
|
NM_000245.4(MET):c.379G>C (p.Asp127His)
|
rs1584876615
|
|
|
NM_000245.4(MET):c.37G>C (p.Val13Leu)
|
|
|
|
NM_000245.4(MET):c.37G>T (p.Val13Leu)
|
|
|
|
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser)
|
rs727504014
|
|
|
NM_000245.4(MET):c.3812T>A (p.Val1271Glu)
|
|
|
|
NM_000245.4(MET):c.3817del (p.Leu1273fs)
|
|
|
|
NM_000245.4(MET):c.381T>A (p.Asp127Glu)
|
rs2116587402
|
|
|
NM_000245.4(MET):c.3821G>A (p.Trp1274Ter)
|
|
|
|
NM_000245.4(MET):c.382G>A (p.Asp128Asn)
|
|
|
|
NM_000245.4(MET):c.3838G>A (p.Gly1280Arg)
|
|
|
|
NM_000245.4(MET):c.383A>G (p.Asp128Gly)
|
rs1554378477
|
|
|
NM_000245.4(MET):c.3841G>A (p.Ala1281Thr)
|
|
|
|
NM_000245.4(MET):c.3842C>T (p.Ala1281Val)
|
rs750337451
|
|
|
NM_000245.4(MET):c.3844C>T (p.Pro1282Ser)
|
|
|
|
NM_000245.4(MET):c.3848dup (p.Tyr1284fs)
|
|
|
|
NM_000245.4(MET):c.3853C>A (p.Pro1285Thr)
|
|
|
|
NM_000245.4(MET):c.3858C>G (p.Asp1286Glu)
|
|
|
|
NM_000245.4(MET):c.3860T>G (p.Val1287Gly)
|
|
|
|
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser)
|
rs1584977945
|
|
|
NM_000245.4(MET):c.386A>C (p.Gln129Pro)
|
rs1791478036
|
|
|
NM_000245.4(MET):c.3871G>C (p.Asp1291His)
|
|
|
|
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
|
|
|
|
NM_000245.4(MET):c.3874A>G (p.Ile1292Val)
|
|
|
|
NM_000245.4(MET):c.3876A>G (p.Ile1292Met)
|
rs786204044
|
|
|
NM_000245.4(MET):c.3879T>A (p.Thr1293=)
|
rs1554402170
|
|
|
NM_000245.4(MET):c.387A>T (p.Gln129His)
|
rs1791478119
|
|
|
NM_000245.4(MET):c.388C>T (p.Leu130Phe)
|
rs1584876640
|
|
|
NM_000245.4(MET):c.3895G>C (p.Gly1299Arg)
|
|
|
|
NM_000245.4(MET):c.3897G>T (p.Gly1299=)
|
rs2117108701
|
|
|
NM_000245.4(MET):c.38T>C (p.Val13Ala)
|
|
|
|
NM_000245.4(MET):c.3905T>C (p.Leu1302Pro)
|
rs2117108825
|
|
|
NM_000245.4(MET):c.3929A>G (p.Asp1310Gly)
|
|
|
|
NM_000245.4(MET):c.3929A>T (p.Asp1310Val)
|
rs1390590380
|
|
|
NM_000245.4(MET):c.3930C>A (p.Asp1310Glu)
|
rs773763852
|
|
|
NM_000245.4(MET):c.3935+2T>A
|
rs1562941469
|
|
|
NM_000245.4(MET):c.3935+3A>G
|
rs1554402183
|
|
|
NM_000245.4(MET):c.3935+5G>A
|
|
|
|
NM_000245.4(MET):c.3936-2A>G
|
rs1795654625
|
|
|
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
|
|
|
|
NM_000245.4(MET):c.3940G>A (p.Glu1314Lys)
|
rs1395763398
|
|
|
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
|
|
|
|
NM_000245.4(MET):c.395G>A (p.Ser132Asn)
|
rs1791478666
|
|
|
NM_000245.4(MET):c.395G>T (p.Ser132Ile)
|
rs1791478666
|
|
|
NM_000245.4(MET):c.3961C>T (p.His1321Tyr)
|
rs1795655626
|
|
|
NM_000245.4(MET):c.3964C>G (p.Pro1322Ala)
|
rs368312290
|
|
|
NM_000245.4(MET):c.3964C>T (p.Pro1322Ser)
|
rs368312290
|
|
|
NM_000245.4(MET):c.3967A>G (p.Lys1323Glu)
|
rs1584978266
|
|
|
NM_000245.4(MET):c.3968A>G (p.Lys1323Arg)
|
|
|
|
NM_000245.4(MET):c.3978G>A (p.Met1326Ile)
|
rs1795656686
|
|
|
NM_000245.4(MET):c.3978G>C (p.Met1326Ile)
|
rs1795656686
|
|
|
NM_000245.4(MET):c.3979C>T (p.Arg1327Cys)
|
rs2117111027
|
|
|
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu)
|
rs755043272
|
|
|
NM_000245.4(MET):c.3985T>A (p.Ser1329Thr)
|
rs2117111134
|
|
|
NM_000245.4(MET):c.3986C>G (p.Ser1329Cys)
|
rs1398543726
|
|
|
NM_000245.4(MET):c.3986C>T (p.Ser1329Phe)
|
rs1398543726
|
|
|
NM_000245.4(MET):c.3989T>C (p.Phe1330Ser)
|
|
|
|
NM_000245.4(MET):c.3991T>C (p.Ser1331Pro)
|
rs1562941559
|
|
|
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala)
|
rs1562941559
|
|
|
NM_000245.4(MET):c.3994G>C (p.Glu1332Gln)
|
rs748382550
|
|
|
NM_000245.4(MET):c.3998T>G (p.Leu1333Arg)
|
|
|
|
NM_000245.4(MET):c.4000G>T (p.Val1334Leu)
|
rs1795657629
|
|
|
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp)
|
rs1258671501
|
|
|
NM_000245.4(MET):c.4009A>G (p.Ile1337Val)
|
|
|
|
NM_000245.4(MET):c.4009A>T (p.Ile1337Leu)
|
|
|
|
NM_000245.4(MET):c.4015G>A (p.Ala1339Thr)
|
|
|
|
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro)
|
rs1795658722
|
|
|
NM_000245.4(MET):c.401G>A (p.Gly134Asp)
|
rs2116587889
|
|
|
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys)
|
rs2117111729
|
|
|
NM_000245.4(MET):c.4027A>G (p.Thr1343Ala)
|
|
|
|
NM_000245.4(MET):c.4037G>A (p.Gly1346Glu)
|
rs2117111902
|
|
|
NM_000245.4(MET):c.403A>T (p.Ser135Cys)
|
rs1791478961
|
|
|
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp)
|
rs1562941622
|
|
|
NM_000245.4(MET):c.4048G>A (p.Val1350Ile)
|
|
|
|
NM_000245.4(MET):c.404G>A (p.Ser135Asn)
|
rs1203410917
|
|
|
NM_000245.4(MET):c.4051C>T (p.His1351Tyr)
|
rs2117112144
|
|
|
NM_000245.4(MET):c.4052A>C (p.His1351Pro)
|
|
|
|
NM_000245.4(MET):c.4052A>G (p.His1351Arg)
|
rs1490801483
|
|
|
NM_000245.4(MET):c.4052A>T (p.His1351Leu)
|
rs1490801483
|
|
|
NM_000245.4(MET):c.4058A>T (p.Asn1353Ile)
|
|
|
|
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
|
|
|
|
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter)
|
rs767214353
|
|
|
NM_000245.4(MET):c.4074C>A (p.Asn1358Lys)
|
|
|
|
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu)
|
rs1795661591
|
|
|
NM_000245.4(MET):c.4086C>A (p.Val1362=)
|
rs753757242
|
|
|
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser)
|
rs45578433
|
|
|
NM_000245.4(MET):c.4092_4093inv (p.Tyr1365His)
|
|
|
|
NM_000245.4(MET):c.4094A>G (p.Tyr1365Cys)
|
rs1795662590
|
|
|
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
|
|
|
|
NM_000245.4(MET):c.4096C>A (p.Pro1366Thr)
|
rs1795662723
|
|
|
NM_000245.4(MET):c.4103T>C (p.Leu1368Pro)
|
rs2117112993
|
|
|
NM_000245.4(MET):c.4109C>G (p.Ser1370Ter)
|
|
|
|
NM_000245.4(MET):c.410A>G (p.Asn137Ser)
|
rs1584876716
|
|
|
NM_000245.4(MET):c.4112C>T (p.Ser1371Leu)
|
|
|
|
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala)
|
rs1584978594
|
|
|
NM_000245.4(MET):c.4117G>T (p.Asp1373Tyr)
|
|
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
|
NM_000245.4(MET):c.4118A>T (p.Asp1373Val)
|
rs773898036
|
|
|
NM_000245.4(MET):c.4120A>G (p.Asn1374Asp)
|
|
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
|
NM_000245.4(MET):c.4123G>A (p.Ala1375Thr)
|
rs373517956
|
|
|
NM_000245.4(MET):c.4123G>T (p.Ala1375Ser)
|
rs373517956
|
|
|
NM_000245.4(MET):c.4124C>T (p.Ala1375Val)
|
|
|
|
NM_000245.4(MET):c.4126G>A (p.Asp1376Asn)
|
|
|
|
NM_000245.4(MET):c.4130A>G (p.Asp1377Gly)
|
|
|
|
NM_000245.4(MET):c.4132G>A (p.Glu1378Lys)
|
rs1795665686
|
|
|
NM_000245.4(MET):c.4135G>A (p.Val1379Met)
|
rs1554402266
|
|
|
NM_000245.4(MET):c.4136T>G (p.Val1379Gly)
|
rs2117113573
|
|
|
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu)
|
rs370368651
|
|
|
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala)
|
rs1292389793
|
|
|
NM_000245.4(MET):c.4142C>T (p.Thr1381Ile)
|
rs2117113682
|
|
|
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter)
|
rs200315561
|
|
|
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro)
|
rs752694306
|
|
|
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu)
|
rs752694306
|
|
|
NM_000245.4(MET):c.4156T>C (p.Phe1386Leu)
|
|
|
|
NM_000245.4(MET):c.4159T>C (p.Trp1387Arg)
|
|
|
|
NM_000245.4(MET):c.4162G>A (p.Glu1388Lys)
|
|
|
|
NM_000245.4(MET):c.4172del (p.Ter1391CysextTer?)
|
rs2117114331
|
|
|
NM_000245.4(MET):c.424C>G (p.Gln142Glu)
|
rs1554378495
|
|
|
NM_000245.4(MET):c.425A>G (p.Gln142Arg)
|
rs768640780
|
|
|
NM_000245.4(MET):c.434T>C (p.Val145Ala)
|
|
|
|
NM_000245.4(MET):c.439C>T (p.Pro147Ser)
|
rs2116588845
|
|
|
NM_000245.4(MET):c.451A>G (p.Thr151Ala)
|
rs2116589147
|
|
|
NM_000245.4(MET):c.452C>T (p.Thr151Ile)
|
rs1584876832
|
|
|
NM_000245.4(MET):c.457G>A (p.Asp153Asn)
|
|
|
|
NM_000245.4(MET):c.463C>A (p.Gln155Lys)
|
|
|
|
NM_000245.4(MET):c.464A>G (p.Gln155Arg)
|
rs2116589485
|
|
|
NM_000245.4(MET):c.465G>T (p.Gln155His)
|
rs863224695
|
|
|
NM_000245.4(MET):c.466T>C (p.Ser156Pro)
|
rs2116589535
|
|
|
NM_000245.4(MET):c.466_467insATGT (p.Ser156fs)
|
|
|
|
NM_000245.4(MET):c.467del (p.Ser156fs)
|
|
|
|
NM_000245.4(MET):c.471G>C (p.Glu157Asp)
|
rs1451799154
|
|
|
NM_000245.4(MET):c.472G>T (p.Val158Phe)
|
rs1227091238
|
|
|
NM_000245.4(MET):c.473T>C (p.Val158Ala)
|
rs2116589740
|
|
|
NM_000245.4(MET):c.476A>G (p.His159Arg)
|
|
|
|
NM_000245.4(MET):c.477C>A (p.His159Gln)
|
rs1584876898
|
|
|
NM_000245.4(MET):c.478T>C (p.Cys160Arg)
|
|
|
|
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
|
|
|
|
NM_000245.4(MET):c.482T>C (p.Ile161Thr)
|
rs1060503532
|
|
|
NM_000245.4(MET):c.491C>T (p.Pro164Leu)
|
rs1562883575
|
|
|
NM_000245.4(MET):c.495G>C (p.Gln165His)
|
rs1060503537
|
|
|
NM_000245.4(MET):c.496A>G (p.Ile166Val)
|
|
|
|
NM_000245.4(MET):c.497T>G (p.Ile166Arg)
|
rs773830746
|
|
|
NM_000245.4(MET):c.498A>G (p.Ile166Met)
|
rs2116590397
|
|
|
NM_000245.4(MET):c.501A>C (p.Glu167Asp)
|
rs1584876986
|
|
|
NM_000245.4(MET):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_000245.4(MET):c.508A>G (p.Ser170Gly)
|
|
|
|
NM_000245.4(MET):c.509G>A (p.Ser170Asn)
|
rs1584877029
|
|
|
NM_000245.4(MET):c.50C>G (p.Thr17Ser)
|
rs747777018
|
|
|
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
|
|
|
|
NM_000245.4(MET):c.522C>G (p.Asp174Glu)
|
rs863224696
|
|
|
NM_000245.4(MET):c.524G>A (p.Cys175Tyr)
|
rs1584877055
|
|
|
NM_000245.4(MET):c.52T>G (p.Leu18Val)
|
|
|
|
NM_000245.4(MET):c.532A>G (p.Ser178Gly)
|
|
|
|
NM_000245.4(MET):c.535G>T (p.Ala179Ser)
|
rs753697730
|
|
|
NM_000245.4(MET):c.538C>G (p.Leu180Val)
|
rs1584877113
|
|
|
NM_000245.4(MET):c.550_579dup (p.Ile193_Asn194insValLeuSerSerValLysAspArgPheIle)
|
|
|
|
NM_000245.4(MET):c.553C>G (p.Leu185Val)
|
rs376097698
|
|
|
NM_000245.4(MET):c.554T>A (p.Leu185His)
|
rs1791489495
|
|
|
NM_000245.4(MET):c.554T>C (p.Leu185Pro)
|
rs1791489495
|
|
|
NM_000245.4(MET):c.559T>A (p.Ser187Thr)
|
rs1791489630
|
|
|
NM_000245.4(MET):c.562G>A (p.Val188Ile)
|
rs2116591991
|
|
|
NM_000245.4(MET):c.568G>A (p.Asp190Asn)
|
|
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
|
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
|
|
|
|
NM_000245.4(MET):c.570C>G (p.Asp190Glu)
|
rs1791490183
|
|
|
NM_000245.4(MET):c.571C>G (p.Arg191Gly)
|
rs530932258
|
|
|
NM_000245.4(MET):c.572G>T (p.Arg191Leu)
|
|
|
|
NM_000245.4(MET):c.577A>C (p.Ile193Leu)
|
rs747138607
|
|
|
NM_000245.4(MET):c.581A>C (p.Asn194Thr)
|
rs370170168
|
|
|
NM_000245.4(MET):c.581A>G (p.Asn194Ser)
|
rs370170168
|
|
|
NM_000245.4(MET):c.583T>C (p.Phe195Leu)
|
|
|
|
NM_000245.4(MET):c.584T>A (p.Phe195Tyr)
|
|
|
|
NM_000245.4(MET):c.586T>C (p.Phe196Leu)
|
|
|
|
NM_000245.4(MET):c.589G>A (p.Val197Ile)
|
rs2116592694
|
|
|
NM_000245.4(MET):c.596A>G (p.Asn199Ser)
|
rs1342574948
|
|
|
NM_000245.4(MET):c.601A>G (p.Ile201Val)
|
rs2116592997
|
|
|
NM_000245.4(MET):c.602T>C (p.Ile201Thr)
|
rs2116593025
|
|
|
NM_000245.4(MET):c.605A>C (p.Asn202Thr)
|
|
|
|
NM_000245.4(MET):c.608C>A (p.Ser203Tyr)
|
|
|
|
NM_000245.4(MET):c.608C>T (p.Ser203Phe)
|
|
|
|
NM_000245.4(MET):c.608CTT[1] (p.Ser204del)
|
rs764811491
|
|
|
NM_000245.4(MET):c.610T>C (p.Ser204Pro)
|
rs1791492133
|
|
|
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
|
|
|
|
NM_000245.4(MET):c.613T>G (p.Tyr205Asp)
|
|
|
|
NM_000245.4(MET):c.61A>G (p.Arg21Gly)
|
|
|
|
NM_000245.4(MET):c.622G>T (p.Asp208Tyr)
|
rs2116593557
|
|
|
NM_000245.4(MET):c.628C>A (p.Pro210Thr)
|
rs983457211
|
|
|
NM_000245.4(MET):c.628C>T (p.Pro210Ser)
|
rs983457211
|
|
|
NM_000245.4(MET):c.629del (p.Pro210fs)
|
rs1554378645
|
|
|
NM_000245.4(MET):c.632T>C (p.Leu211Ser)
|
|
|
|
NM_000245.4(MET):c.635A>T (p.His212Leu)
|
|
|
|
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
|
|
|
|
NM_000245.4(MET):c.640A>G (p.Ile214Val)
|
rs786203065
|
|
|
NM_000245.4(MET):c.646G>A (p.Val216Met)
|
|
|
|
NM_000245.4(MET):c.647T>C (p.Val216Ala)
|
rs1396083482
|
|
|
NM_000245.4(MET):c.653G>T (p.Arg218Met)
|
rs1441045077
|
|
|
NM_000245.4(MET):c.654G>C (p.Arg218Ser)
|
rs35284565
|
|
|
NM_000245.4(MET):c.654G>T (p.Arg218Ser)
|
rs35284565
|
|
|
NM_000245.4(MET):c.665C>G (p.Thr222Arg)
|
|
|
|
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
|
|
|
|
NM_000245.4(MET):c.66C>A (p.Ser22Arg)
|
rs773018125
|
|
|
NM_000245.4(MET):c.66C>G (p.Ser22Arg)
|
|
|
|
NM_000245.4(MET):c.674G>A (p.Gly225Asp)
|
rs1791495307
|
|
|
NM_000245.4(MET):c.674G>T (p.Gly225Val)
|
rs1791495307
|
|
|
NM_000245.4(MET):c.679A>G (p.Met227Val)
|
|
|
|
NM_000245.4(MET):c.680T>C (p.Met227Thr)
|
rs1226545782
|
|
|
NM_000245.4(MET):c.689C>A (p.Thr230Lys)
|
|
|
|
NM_000245.4(MET):c.693C>A (p.Asp231Glu)
|
|
|
|
NM_000245.4(MET):c.694C>G (p.Gln232Glu)
|
|
|
|
NM_000245.4(MET):c.700T>C (p.Tyr234His)
|
|
|
|
NM_000245.4(MET):c.703A>C (p.Ile235Leu)
|
rs1266863567
|
|
|
NM_000245.4(MET):c.703A>G (p.Ile235Val)
|
rs1266863567
|
|
|
NM_000245.4(MET):c.709G>A (p.Val237Ile)
|
rs757402499
|
|
|
NM_000245.4(MET):c.724A>G (p.Arg242Gly)
|
rs904275312
|
|
|
NM_000245.4(MET):c.728A>G (p.Asp243Gly)
|
rs1562883992
|
|
|
NM_000245.4(MET):c.733T>C (p.Tyr245His)
|
|
|
|
NM_000245.4(MET):c.738dup (p.Ile247fs)
|
rs1584877533
|
|
|
NM_000245.4(MET):c.73G>T (p.Glu25Ter)
|
rs2116579525
|
|
|
NM_000245.4(MET):c.744G>T (p.Lys248Asn)
|
rs1562884016
|
|
|
NM_000245.4(MET):c.748G>A (p.Val250Ile)
|
rs2116596826
|
|
|
NM_000245.4(MET):c.749T>C (p.Val250Ala)
|
rs2116596855
|
|
|
NM_000245.4(MET):c.754G>A (p.Ala252Thr)
|
|
|
|
NM_000245.4(MET):c.755C>T (p.Ala252Val)
|
rs1791500546
|
|
|
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
|
|
|
|
NM_000245.4(MET):c.759T>G (p.Phe253Leu)
|
rs2116597103
|
|
|
NM_000245.4(MET):c.764G>T (p.Ser255Ile)
|
rs1294994065
|
|
|
NM_000245.4(MET):c.765C>T (p.Ser255=)
|
rs2116597275
|
|
|
NM_000245.4(MET):c.767A>G (p.Asn256Ser)
|
|
|
|
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
|
|
|
|
NM_000245.4(MET):c.76T>C (p.Cys26Arg)
|
rs2116579595
|
|
|
NM_000245.4(MET):c.770A>G (p.Asn257Ser)
|
rs759388741
|
|
|
NM_000245.4(MET):c.771T>G (p.Asn257Lys)
|
rs2116597435
|
|
|
NM_000245.4(MET):c.774del (p.Phe258fs)
|
rs1281772042
|
|
|
NM_000245.4(MET):c.775_777del (p.Ile259del)
|
rs1791501640
|
|
|
NM_000245.4(MET):c.786G>C (p.Leu262Phe)
|
rs1791501952
|
|
|
NM_000245.4(MET):c.790G>T (p.Val264Phe)
|
rs2116597936
|
|
|
NM_000245.4(MET):c.797G>A (p.Arg266Lys)
|
|
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
|
NM_000245.4(MET):c.79A>T (p.Lys27Ter)
|
rs2116579656
|
|
|
NM_000245.4(MET):c.7G>A (p.Ala3Thr)
|
rs1416393044
|
|
|
NM_000245.4(MET):c.805C>G (p.Leu269Val)
|
rs781257386
|
|
|
NM_000245.4(MET):c.809A>G (p.Asp270Gly)
|
rs1791503359
|
|
|
NM_000245.4(MET):c.80A>G (p.Lys27Arg)
|
rs555920594
|
|
|
NM_000245.4(MET):c.80_81delinsGG (p.Lys27Arg)
|
|
|
|
NM_000245.4(MET):c.811G>A (p.Ala271Thr)
|
rs1162540199
|
|
|
NM_000245.4(MET):c.816G>C (p.Gln272His)
|
rs1168091854
|
|
|
NM_000245.4(MET):c.818C>G (p.Thr273Ser)
|
rs368144654
|
|
|
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
|
|
|
|
NM_000245.4(MET):c.826A>C (p.Thr276Pro)
|
rs769128478
|
|
|
NM_000245.4(MET):c.826A>G (p.Thr276Ala)
|
rs769128478
|
|
|
NM_000245.4(MET):c.826A>T (p.Thr276Ser)
|
rs769128478
|
|
|
NM_000245.4(MET):c.82G>A (p.Glu28Lys)
|
rs1562882876
|
|
|
NM_000245.4(MET):c.82G>C (p.Glu28Gln)
|
|
|
|
NM_000245.4(MET):c.835A>G (p.Ile279Val)
|
|
|
|
NM_000245.4(MET):c.836T>C (p.Ile279Thr)
|
rs2116599173
|
|
|
NM_000245.4(MET):c.837C>G (p.Ile279Met)
|
|
|
|
NM_000245.4(MET):c.838A>G (p.Arg280Gly)
|
|
|
|
NM_000245.4(MET):c.839G>A (p.Arg280Lys)
|
rs770528254
|
|
|
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
|
|
|
|
NM_000245.4(MET):c.83A>T (p.Glu28Val)
|
|
|
|
NM_000245.4(MET):c.841T>C (p.Phe281Leu)
|
|
|
|
NM_000245.4(MET):c.841T>G (p.Phe281Val)
|
rs1791504987
|
|
|
NM_000245.4(MET):c.844T>G (p.Cys282Gly)
|
|
|
|
NM_000245.4(MET):c.845G>C (p.Cys282Ser)
|
rs879254343
|
|
|
NM_000245.4(MET):c.847T>C (p.Ser283Pro)
|
rs1791505194
|
|
|
NM_000245.4(MET):c.84G>C (p.Glu28Asp)
|
rs759602956
|
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
|
NM_000245.4(MET):c.851T>C (p.Ile284Thr)
|
rs2116599526
|
|
|
NM_000245.4(MET):c.856T>G (p.Ser286Ala)
|
|
|
|
NM_000245.4(MET):c.85G>C (p.Ala29Pro)
|
rs765246117
|
|
|
NM_000245.4(MET):c.85G>T (p.Ala29Ser)
|
rs765246117
|
|
|
NM_000245.4(MET):c.860G>A (p.Gly287Glu)
|
|
|
|
NM_000245.4(MET):c.860G>C (p.Gly287Ala)
|
rs2116599722
|
|
|
NM_000245.4(MET):c.868T>C (p.Ser290Pro)
|
rs2116599896
|
|
|
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
|
|
|
|
NM_000245.4(MET):c.874A>G (p.Met292Val)
|
rs1395827839
|
|
|
NM_000245.4(MET):c.875T>G (p.Met292Arg)
|
|
|
|
NM_000245.4(MET):c.880A>C (p.Met294Leu)
|
|
|
|
NM_000245.4(MET):c.883C>T (p.Pro295Ser)
|
|
|
|
NM_000245.4(MET):c.889G>C (p.Glu297Gln)
|
|
|
|
NM_000245.4(MET):c.891G>C (p.Glu297Asp)
|
rs1791506647
|
|
|
NM_000245.4(MET):c.89T>C (p.Leu30Pro)
|
|
|
|
NM_000245.4(MET):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000245.4(MET):c.910A>G (p.Arg304Gly)
|
|
|
|
NM_000245.4(MET):c.911G>A (p.Arg304Lys)
|
|
|
|
NM_000245.4(MET):c.914A>G (p.Lys305Arg)
|
rs763935791
|
|
|
NM_000245.4(MET):c.916A>C (p.Lys306Gln)
|
rs1032682239
|
|
|
NM_000245.4(MET):c.917_919del (p.Lys306del)
|
rs1584877929
|
|
|
NM_000245.4(MET):c.920G>A (p.Arg307Lys)
|
rs2116600992
|
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
|
NM_000245.4(MET):c.926C>T (p.Thr309Ile)
|
|
|
|
NM_000245.4(MET):c.92C>T (p.Ala31Val)
|
|
|
|
NM_000245.4(MET):c.930G>T (p.Lys310Asn)
|
|
|
|
NM_000245.4(MET):c.938T>C (p.Val313Ala)
|
rs1562884246
|
|
|
NM_000245.4(MET):c.940T>G (p.Phe314Val)
|
rs2116601372
|
|
|
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
|
|
|
|
NM_000245.4(MET):c.947T>C (p.Ile316Thr)
|
rs1584877972
|
|
|
NM_000245.4(MET):c.949C>A (p.Leu317Ile)
|
rs750531377
|
|
|
NM_000245.4(MET):c.949C>T (p.Leu317Phe)
|
rs750531377
|
|
|
NM_000245.4(MET):c.950T>C (p.Leu317Pro)
|
|
|
|
NM_000245.4(MET):c.952C>T (p.Gln318Ter)
|
rs1791509642
|
|
|
NM_000245.4(MET):c.955G>T (p.Ala319Ser)
|
rs545332056
|
|
|
NM_000245.4(MET):c.956C>T (p.Ala319Val)
|
rs1791510135
|
|
|
NM_000245.4(MET):c.961T>C (p.Tyr321His)
|
rs2116601933
|
|
|
NM_000245.4(MET):c.962A>G (p.Tyr321Cys)
|
|
|
|
NM_000245.4(MET):c.965T>A (p.Val322Asp)
|
|
|
|
NM_000245.4(MET):c.968G>A (p.Ser323Asn)
|
rs2116602095
|
|
|
NM_000245.4(MET):c.970A>C (p.Lys324Gln)
|
|
|
|
NM_000245.4(MET):c.970A>G (p.Lys324Glu)
|
rs1791511003
|
|
|
NM_000245.4(MET):c.972G>C (p.Lys324Asn)
|
|
|
|
NM_000245.4(MET):c.973C>A (p.Pro325Thr)
|
|
|
|
NM_000245.4(MET):c.977G>C (p.Gly326Ala)
|
rs1791511601
|
|
|
NM_000245.4(MET):c.979G>T (p.Ala327Ser)
|
rs2116602432
|
|
|
NM_000245.4(MET):c.985C>G (p.Leu329Val)
|
|
|
|
NM_000245.4(MET):c.991A>G (p.Arg331Gly)
|
rs1791512225
|
|
|
NM_000245.4(MET):c.992G>T (p.Arg331Ile)
|
|
|
|
NM_000245.4(MET):c.994C>A (p.Gln332Lys)
|
|
|
|
NM_000245.4(MET):c.995A>G (p.Gln332Arg)
|
rs1060503529
|
|
|
NM_000245.4(MET):c.998T>C (p.Ile333Thr)
|
rs1584878120
|
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
|
NM_000249.3(MLH1):c.-117G>T
|
rs565891017
|
|
|
NM_000249.3(MLH1):c.-62T>C
|
|
|
|
NM_000249.3(MLH1):c.-63G>A
|
|
|
|
NM_000249.3(MLH1):c.-86G>A
|
rs558051715
|
|
|
NM_000249.3(MLH1):c.1668-?_2103+?dup
|
|
|
|
NM_000249.3(MLH1):c.1732-?_*193dup733
|
|
|
|
NM_000249.3(MLH1):c.1732_1734delGAG
|
|
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
|
NM_000249.4(MLH1):c.*1A>G
|
rs2085658957
|
|
|
NM_000249.4(MLH1):c.*6G>T
|
rs1559597540
|
|
|
NM_000249.4(MLH1):c.-11C>A
|
rs776898290
|
|
|
NM_000249.4(MLH1):c.-14C>G
|
|
|
|
NM_000249.4(MLH1):c.-167del
|
|
|
|
NM_000249.4(MLH1):c.-27C>G
|
|
|
|
NM_000249.4(MLH1):c.-27C>T
|
rs587779001
|
|
|
NM_000249.4(MLH1):c.-28A>T
|
rs56198082
|
|
|
NM_000249.4(MLH1):c.-2A>C
|
|
|
|
NM_000249.4(MLH1):c.-6G>A
|
|
|
|
NM_000249.4(MLH1):c.1001T>G (p.Leu334Arg)
|
|
|
|
NM_000249.4(MLH1):c.1007G>C (p.Gly336Ala)
|
rs587781750
|
|
|
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)
|
rs1559500884
|
|
|
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys)
|
rs763847201
|
|
|
NM_000249.4(MLH1):c.1012A>C (p.Asn338His)
|
rs1575510814
|
|
|
NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)
|
|
|
|
NM_000249.4(MLH1):c.1013A>T (p.Asn338Ile)
|
rs63751467
|
|
|
NM_000249.4(MLH1):c.1018T>A (p.Ser340Thr)
|
|
|
|
NM_000249.4(MLH1):c.101_102delinsTT (p.Glu34Val)
|
rs2125694685
|
|
|
NM_000249.4(MLH1):c.1023G>T (p.Arg341Ser)
|
|
|
|
NM_000249.4(MLH1):c.1025T>C (p.Met342Thr)
|
rs1553648213
|
|
|
NM_000249.4(MLH1):c.1025T>G (p.Met342Arg)
|
rs1553648213
|
|
|
NM_000249.4(MLH1):c.1026G>A (p.Met342Ile)
|
rs1060500704
|
|
|
NM_000249.4(MLH1):c.1028A>C (p.Tyr343Ser)
|
|
|
|
NM_000249.4(MLH1):c.1028A>G (p.Tyr343Cys)
|
rs876660843
|
|
|
NM_000249.4(MLH1):c.102G>C (p.Glu34Asp)
|
|
|
|
NM_000249.4(MLH1):c.102G>T (p.Glu34Asp)
|
rs745876152
|
|
|
NM_000249.4(MLH1):c.1032C>G (p.Phe344Leu)
|
|
|
|
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)
|
rs63751609
|
|
|
NM_000249.4(MLH1):c.1038+3C>T
|
rs2125855073
|
|
|
NM_000249.4(MLH1):c.1038+4A>C
|
rs1251478879
|
|
|
NM_000249.4(MLH1):c.1038+4A>G
|
rs1251478879
|
|
|
NM_000249.4(MLH1):c.1038+5G>T
|
rs780419140
|
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTAA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1039A>G (p.Thr347Ala)
|
rs1191787581
|
|
|
NM_000249.4(MLH1):c.103A>C (p.Met35Leu)
|
|
|
|
NM_000249.4(MLH1):c.1046T>A (p.Leu349Gln)
|
rs2083387059
|
|
|
NM_000249.4(MLH1):c.1048C>T (p.Pro350Ser)
|
rs1553650541
|
|
|
NM_000249.4(MLH1):c.1049C>G (p.Pro350Arg)
|
rs1575533938
|
|
|
NM_000249.4(MLH1):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_000249.4(MLH1):c.1054C>T (p.Leu352Phe)
|
rs1162924533
|
|
|
NM_000249.4(MLH1):c.1055T>C (p.Leu352Pro)
|
rs2125880146
|
|
|
NM_000249.4(MLH1):c.1057G>A (p.Ala353Thr)
|
rs1412018144
|
|
|
NM_000249.4(MLH1):c.1058C>G (p.Ala353Gly)
|
rs63751265
|
|
|
NM_000249.4(MLH1):c.105G>T (p.Met35Ile)
|
rs1553637382
|
|
|
NM_000249.4(MLH1):c.1061G>A (p.Gly354Asp)
|
|
|
|
NM_000249.4(MLH1):c.1068T>A (p.Ser356=)
|
rs1060504000
|
|
|
NM_000249.4(MLH1):c.106A>T (p.Ile36Phe)
|
rs772251284
|
|
|
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys)
|
rs1553650621
|
|
|
NM_000249.4(MLH1):c.1072G>C (p.Glu358Gln)
|
rs1553650621
|
|
|
NM_000249.4(MLH1):c.1075A>T (p.Met359Leu)
|
rs1553650626
|
|
|
NM_000249.4(MLH1):c.1078G>C (p.Val360Leu)
|
rs878853775
|
|
|
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe)
|
rs878853775
|
|
|
NM_000249.4(MLH1):c.1079T>C (p.Val360Ala)
|
|
|
|
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu)
|
rs786201875
|
|
|
NM_000249.4(MLH1):c.1087A>G (p.Thr363Ala)
|
rs1376611280
|
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
|
NM_000249.4(MLH1):c.1093A>G (p.Ser365Gly)
|
|
|
|
NM_000249.4(MLH1):c.1096C>G (p.Leu366Val)
|
rs2125881021
|
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
|
NM_000249.4(MLH1):c.10G>C (p.Val4Leu)
|
rs1559500060
|
|
|
NM_000249.4(MLH1):c.1100C>T (p.Thr367Ile)
|
rs776402584
|
|
|
NM_000249.4(MLH1):c.1108T>C (p.Ser370Pro)
|
rs2125881275
|
|
|
NM_000249.4(MLH1):c.1109C>G (p.Ser370Cys)
|
|
|
|
NM_000249.4(MLH1):c.1111A>T (p.Thr371Ser)
|
rs762426947
|
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
|
NM_000249.4(MLH1):c.1117G>C (p.Gly373Arg)
|
|
|
|
NM_000249.4(MLH1):c.111G>T (p.Glu37Asp)
|
rs864622485
|
|
|
NM_000249.4(MLH1):c.1121G>A (p.Ser374Asn)
|
rs1559552176
|
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
|
NM_000249.4(MLH1):c.1123A>C (p.Ser375Arg)
|
rs1060500694
|
|
|
NM_000249.4(MLH1):c.1123A>G (p.Ser375Gly)
|
rs1060500694
|
|
|
NM_000249.4(MLH1):c.1126G>A (p.Asp376Asn)
|
|
|
|
NM_000249.4(MLH1):c.1127A>T (p.Asp376Val)
|
rs1060500697
|
|
|
NM_000249.4(MLH1):c.1129A>G (p.Lys377Glu)
|
rs2083402714
|
|
|
NM_000249.4(MLH1):c.1130A>G (p.Lys377Arg)
|
|
|
|
NM_000249.4(MLH1):c.1131G>T (p.Lys377Asn)
|
|
|
|
NM_000249.4(MLH1):c.1132G>A (p.Val378Ile)
|
rs2083403334
|
|
|
NM_000249.4(MLH1):c.1132G>T (p.Val378Phe)
|
rs2083403334
|
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1138G>A (p.Ala380Thr)
|
rs2083404527
|
|
|
NM_000249.4(MLH1):c.1138G>T (p.Ala380Ser)
|
|
|
|
NM_000249.4(MLH1):c.1145A>G (p.Gln382Arg)
|
|
|
|
NM_000249.4(MLH1):c.1146G>T (p.Gln382His)
|
rs876658801
|
|
|
NM_000249.4(MLH1):c.1147A>G (p.Met383Val)
|
rs1559552349
|
|
|
NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)
|
|
|
|
NM_000249.4(MLH1):c.1149G>A (p.Met383Ile)
|
rs2083407020
|
|
|
NM_000249.4(MLH1):c.1150G>T (p.Val384Phe)
|
rs757350157
|
|
|
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro)
|
rs63750430
|
|
|
NM_000249.4(MLH1):c.1154G>T (p.Arg385Leu)
|
rs63750430
|
|
|
NM_000249.4(MLH1):c.116+1017T>A
|
|
|
|
NM_000249.4(MLH1):c.116+10G>T
|
rs1553637494
|
|
|
NM_000249.4(MLH1):c.116+3A>T
|
|
|
|
NM_000249.4(MLH1):c.116+4C>A
|
rs1057523910
|
|
|
NM_000249.4(MLH1):c.116+6G>A
|
rs1057522127
|
|
|
NM_000249.4(MLH1):c.116+6G>C
|
|
|
|
NM_000249.4(MLH1):c.1160A>G (p.Asp387Gly)
|
|
|
|
NM_000249.4(MLH1):c.1165C>G (p.Arg389Gly)
|
rs61751644
|
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
|
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe)
|
rs63751701
|
|
|
NM_000249.4(MLH1):c.117-3C>T
|
rs770919400
|
|
|
NM_000249.4(MLH1):c.117-6T>A
|
rs2081158776
|
|
|
NM_000249.4(MLH1):c.117-6T>G
|
rs2081158776
|
|
|
NM_000249.4(MLH1):c.1170A>C (p.Glu390Asp)
|
|
|
|
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)
|
rs587782884
|
|
|
NM_000249.4(MLH1):c.1177C>G (p.Leu393Val)
|
|
|
|
NM_000249.4(MLH1):c.1177C>T (p.Leu393Phe)
|
rs2083412995
|
|
|
NM_000249.4(MLH1):c.1178T>G (p.Leu393Arg)
|
rs786203413
|
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
|
NM_000249.4(MLH1):c.1180G>T (p.Asp394Tyr)
|
rs1575535572
|
|
|
NM_000249.4(MLH1):c.1181A>G (p.Asp394Gly)
|
rs1553650908
|
|
|
NM_000249.4(MLH1):c.1183G>A (p.Ala395Thr)
|
|
|
|
NM_000249.4(MLH1):c.1183G>T (p.Ala395Ser)
|
|
|
|
NM_000249.4(MLH1):c.1184C>T (p.Ala395Val)
|
rs1064794142
|
|
|
NM_000249.4(MLH1):c.1186T>A (p.Phe396Ile)
|
rs1262872092
|
|
|
NM_000249.4(MLH1):c.1192C>G (p.Gln398Glu)
|
rs63750483
|
|
|
NM_000249.4(MLH1):c.1194G>T (p.Gln398His)
|
|
|
|
NM_000249.4(MLH1):c.1195C>T (p.Pro399Ser)
|
rs876659657
|
|
|
NM_000249.4(MLH1):c.1196C>T (p.Pro399Leu)
|
rs1553650970
|
|
|
NM_000249.4(MLH1):c.119T>C (p.Leu40Ser)
|
|
|
|
NM_000249.4(MLH1):c.1201A>G (p.Ser401Gly)
|
rs2083417691
|
|
|
NM_000249.4(MLH1):c.1207C>A (p.Pro403Thr)
|
rs587778897
|
|
|
NM_000249.4(MLH1):c.120A>C (p.Leu40Phe)
|
rs1575394679
|
|
|
NM_000249.4(MLH1):c.1210C>A (p.Leu404Met)
|
rs1057517538
|
|
|
NM_000249.4(MLH1):c.1210C>G (p.Leu404Val)
|
rs1057517538
|
|
|
NM_000249.4(MLH1):c.1223C>A (p.Pro408His)
|
rs1241839317
|
|
|
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu)
|
rs63751153
|
|
|
NM_000249.4(MLH1):c.1226A>T (p.Gln409Leu)
|
|
|
|
NM_000249.4(MLH1):c.1228G>A (p.Ala410Thr)
|
rs2083423130
|
|
|
NM_000249.4(MLH1):c.1229C>T (p.Ala410Val)
|
rs761006237
|
|
|
NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)
|
rs535470039
|
|
|
NM_000249.4(MLH1):c.1232T>G (p.Ile411Ser)
|
rs786201951
|
|
|
NM_000249.4(MLH1):c.1244A>T (p.Asp415Val)
|
rs2083426298
|
|
|
NM_000249.4(MLH1):c.1246A>G (p.Lys416Glu)
|
rs267607823
|
|
|
NM_000249.4(MLH1):c.124G>A (p.Ala42Thr)
|
rs2081160631
|
|
|
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)
|
rs754898711
|
|
|
NM_000249.4(MLH1):c.1255A>G (p.Ile419Val)
|
rs781335662
|
|
|
NM_000249.4(MLH1):c.1259C>G (p.Ser420Cys)
|
rs63751179
|
|
|
NM_000249.4(MLH1):c.1259C>T (p.Ser420Phe)
|
rs63751179
|
|
|
NM_000249.4(MLH1):c.125C>G (p.Ala42Gly)
|
rs587778901
|
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
|
NM_000249.4(MLH1):c.1262G>A (p.Ser421Asn)
|
|
|
|
NM_000249.4(MLH1):c.1264G>A (p.Gly422Ser)
|
rs1553651157
|
|
|
NM_000249.4(MLH1):c.1265G>A (p.Gly422Asp)
|
rs1553651162
|
|
|
NM_000249.4(MLH1):c.1265G>C (p.Gly422Ala)
|
rs1553651162
|
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
|
NM_000249.4(MLH1):c.1269G>T (p.Arg423Ser)
|
|
|
|
NM_000249.4(MLH1):c.1271C>G (p.Ala424Gly)
|
rs745393750
|
|
|
NM_000249.4(MLH1):c.1271C>T (p.Ala424Val)
|
rs745393750
|
|
|
NM_000249.4(MLH1):c.1273A>G (p.Arg425Gly)
|
rs1575536889
|
|
|
NM_000249.4(MLH1):c.1274G>C (p.Arg425Thr)
|
rs1553651197
|
|
|
NM_000249.4(MLH1):c.1274G>T (p.Arg425Met)
|
rs1553651197
|
|
|
NM_000249.4(MLH1):c.1275G>T (p.Arg425Ser)
|
|
|
|
NM_000249.4(MLH1):c.1277A>C (p.Gln426Pro)
|
rs876659252
|
|
|
NM_000249.4(MLH1):c.1282G>A (p.Asp428Asn)
|
rs989382971
|
|
|
NM_000249.4(MLH1):c.1285GAG[1] (p.Glu430del)
|
rs1064795262
|
|
|
NM_000249.4(MLH1):c.1286A>C (p.Glu429Ala)
|
rs1559553545
|
|
|
NM_000249.4(MLH1):c.1288G>C (p.Glu430Gln)
|
rs1553651228
|
|
|
NM_000249.4(MLH1):c.1294C>G (p.Leu432Val)
|
rs876659787
|
|
|
NM_000249.4(MLH1):c.1297G>A (p.Glu433Lys)
|
rs63750443
|
|
|
NM_000249.4(MLH1):c.1301T>C (p.Leu434Pro)
|
rs1308786233
|
|
|
NM_000249.4(MLH1):c.1303C>A (p.Pro435Thr)
|
rs786202922
|
|
|
NM_000249.4(MLH1):c.1307C>T (p.Ala436Val)
|
rs2083439889
|
|
|
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala)
|
rs587782273
|
|
|
NM_000249.4(MLH1):c.1309C>T (p.Pro437Ser)
|
rs587782273
|
|
|
NM_000249.4(MLH1):c.130T>C (p.Ser44Pro)
|
|
|
|
NM_000249.4(MLH1):c.1312G>A (p.Ala438Thr)
|
rs1575537522
|
|
|
NM_000249.4(MLH1):c.1316A>G (p.Glu439Gly)
|
|
|
|
NM_000249.4(MLH1):c.1318G>A (p.Val440Met)
|
rs864622250
|
|
|
NM_000249.4(MLH1):c.1319T>C (p.Val440Ala)
|
rs1575537614
|
|
|
NM_000249.4(MLH1):c.131C>G (p.Ser44Cys)
|
rs63751109
|
|
|
NM_000249.4(MLH1):c.1322C>T (p.Ala441Val)
|
rs1575537656
|
|
|
NM_000249.4(MLH1):c.1325C>A (p.Ala442Asp)
|
rs765563111
|
|
|
NM_000249.4(MLH1):c.1325C>G (p.Ala442Gly)
|
rs765563111
|
|
|
NM_000249.4(MLH1):c.1325C>T (p.Ala442Val)
|
|
|
|
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
|
NM_000249.4(MLH1):c.1334A>G (p.Gln445Arg)
|
rs2125885630
|
|
|
NM_000249.4(MLH1):c.133A>G (p.Thr45Ala)
|
rs876658416
|
|
|
NM_000249.4(MLH1):c.1343_1345dup (p.Glu448dup)
|
rs2125885754
|
|
|
NM_000249.4(MLH1):c.1344G>C (p.Glu448Asp)
|
rs587779952
|
|
|
NM_000249.4(MLH1):c.1344_1349del (p.Glu448_Gly449del)
|
rs1060500705
|
|
|
NM_000249.4(MLH1):c.1345G>A (p.Gly449Arg)
|
rs1275913630
|
|
|
NM_000249.4(MLH1):c.1345G>T (p.Gly449Trp)
|
|
|
|
NM_000249.4(MLH1):c.1346G>A (p.Gly449Glu)
|
rs1553651384
|
|
|
NM_000249.4(MLH1):c.1346G>C (p.Gly449Ala)
|
rs1553651384
|
|
|
NM_000249.4(MLH1):c.1348G>A (p.Asp450Asn)
|
rs752622244
|
|
|
NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)
|
rs752622244
|
|
|
NM_000249.4(MLH1):c.1349A>T (p.Asp450Val)
|
rs1575538147
|
|
|
NM_000249.4(MLH1):c.134C>G (p.Thr45Arg)
|
rs759287108
|
|
|
NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)
|
rs864622145
|
|
|
NM_000249.4(MLH1):c.1352C>T (p.Thr451Ile)
|
rs1553651407
|
|
|
NM_000249.4(MLH1):c.1358A>G (p.Lys453Arg)
|
rs1424963586
|
|
|
NM_000249.4(MLH1):c.1363A>G (p.Thr455Ala)
|
rs1575538410
|
|
|
NM_000249.4(MLH1):c.1364C>T (p.Thr455Ile)
|
rs2083451621
|
|
|
NM_000249.4(MLH1):c.1369G>A (p.Glu457Lys)
|
rs1559554162
|
|
|
NM_000249.4(MLH1):c.136A>G (p.Ser46Gly)
|
rs771649701
|
|
|
NM_000249.4(MLH1):c.1370A>C (p.Glu457Ala)
|
rs786203236
|
|
|
NM_000249.4(MLH1):c.1370A>G (p.Glu457Gly)
|
rs786203236
|
|
|
NM_000249.4(MLH1):c.1372A>G (p.Met458Val)
|
rs1457230874
|
|
|
NM_000249.4(MLH1):c.1373T>C (p.Met458Thr)
|
rs63750390
|
|
|
NM_000249.4(MLH1):c.1378G>C (p.Glu460Gln)
|
rs756843954
|
|
|
NM_000249.4(MLH1):c.1378_1380del (p.Glu460del)
|
rs1575538686
|
|
|
NM_000249.4(MLH1):c.1381A>G (p.Lys461Glu)
|
|
|
|
NM_000249.4(MLH1):c.1382A>C (p.Lys461Thr)
|
rs2125886582
|
|
|
NM_000249.4(MLH1):c.1383G>C (p.Lys461Asn)
|
|
|
|
NM_000249.4(MLH1):c.1385G>C (p.Arg462Thr)
|
rs2083456911
|
|
|
NM_000249.4(MLH1):c.1387G>A (p.Gly463Arg)
|
|
|
|
NM_000249.4(MLH1):c.1390C>G (p.Pro464Ala)
|
rs2125886695
|
|
|
NM_000249.4(MLH1):c.1393A>G (p.Thr465Ala)
|
rs786202986
|
|
|
NM_000249.4(MLH1):c.1393A>T (p.Thr465Ser)
|
rs786202986
|
|
|
NM_000249.4(MLH1):c.1397C>T (p.Ser466Phe)
|
rs2125886790
|
|
|
NM_000249.4(MLH1):c.1399A>G (p.Ser467Gly)
|
|
|
|
NM_000249.4(MLH1):c.139A>G (p.Ile47Val)
|
rs1559505924
|
|
|
NM_000249.4(MLH1):c.13G>C (p.Ala5Pro)
|
rs1389945622
|
|
|
NM_000249.4(MLH1):c.1400G>C (p.Ser467Thr)
|
|
|
|
NM_000249.4(MLH1):c.1401C>G (p.Ser467Arg)
|
rs587778910
|
|
|
NM_000249.4(MLH1):c.1403A>G (p.Asn468Ser)
|
rs876659167
|
|
|
NM_000249.4(MLH1):c.1406C>A (p.Pro469His)
|
rs63750932
|
|
|
NM_000249.4(MLH1):c.1406C>G (p.Pro469Arg)
|
rs63750932
|
|
|
NM_000249.4(MLH1):c.1406C>T (p.Pro469Leu)
|
rs63750932
|
|
|
NM_000249.4(MLH1):c.1409+3A>T
|
|
|
|
NM_000249.4(MLH1):c.1409+4T>C
|
rs2083461768
|
|
|
NM_000249.4(MLH1):c.1409+6G>A
|
rs1553651602
|
|
|
NM_000249.4(MLH1):c.1409+6del
|
|
|
|
NM_000249.4(MLH1):c.1410-3C>G
|
rs2083690867
|
|
|
NM_000249.4(MLH1):c.1410-5T>A
|
rs1320434721
|
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
|
|
NM_000249.4(MLH1):c.1411A>G (p.Lys471Glu)
|
rs2083692093
|
|
|
NM_000249.4(MLH1):c.1415G>C (p.Arg472Thr)
|
|
|
|
NM_000249.4(MLH1):c.1416_1417delinsCA (p.Arg472_His473delinsSerAsn)
|
rs1553652889
|
|
|
NM_000249.4(MLH1):c.1418A>G (p.His473Arg)
|
rs1575552047
|
|
|
NM_000249.4(MLH1):c.1419T>G (p.His473Gln)
|
rs1468056204
|
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1423G>A (p.Glu475Lys)
|
|
|
|
NM_000249.4(MLH1):c.1426G>T (p.Asp476Tyr)
|
|
|
|
NM_000249.4(MLH1):c.142C>G (p.Gln48Glu)
|
rs587778913
|
|
|
NM_000249.4(MLH1):c.1430C>T (p.Ser477Phe)
|
|
|
|
NM_000249.4(MLH1):c.1433A>G (p.Asp478Gly)
|
rs1064793174
|
|
|
NM_000249.4(MLH1):c.1433A>T (p.Asp478Val)
|
rs1064793174
|
|
|
NM_000249.4(MLH1):c.1435G>A (p.Val479Met)
|
rs1474913354
|
|
|
NM_000249.4(MLH1):c.1435G>C (p.Val479Leu)
|
rs1474913354
|
|
|
NM_000249.4(MLH1):c.1435G>T (p.Val479Leu)
|
|
|
|
NM_000249.4(MLH1):c.1440A>T (p.Glu480Asp)
|
rs1553652912
|
|
|
NM_000249.4(MLH1):c.1441A>G (p.Met481Val)
|
rs559012648
|
|
|
NM_000249.4(MLH1):c.1442TGG[1] (p.Val482del)
|
rs2083698349
|
|
|
NM_000249.4(MLH1):c.1442_1450del (p.Met481_Asp484delinsAsn)
|
rs2083698592
|
|
|
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile)
|
rs1559558400
|
|
|
NM_000249.4(MLH1):c.1444G>A (p.Val482Met)
|
rs1057089565
|
|
|
NM_000249.4(MLH1):c.1444G>T (p.Val482Leu)
|
rs1057089565
|
|
|
NM_000249.4(MLH1):c.1445T>C (p.Val482Ala)
|
rs376642306
|
|
|
NM_000249.4(MLH1):c.1450G>T (p.Asp484Tyr)
|
rs730881741
|
|
|
NM_000249.4(MLH1):c.1451A>T (p.Asp484Val)
|
|
|
|
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)
|
rs63750314
|
|
|
NM_000249.4(MLH1):c.1454A>G (p.Asp485Gly)
|
rs1553652952
|
|
|
NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)
|
rs532873141
|
|
|
NM_000249.4(MLH1):c.1460G>T (p.Arg487Leu)
|
rs587778917
|
|
|
NM_000249.4(MLH1):c.1463A>G (p.Lys488Arg)
|
|
|
|
NM_000249.4(MLH1):c.1464G>C (p.Lys488Asn)
|
rs2125902013
|
|
|
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala)
|
rs1553652986
|
|
|
NM_000249.4(MLH1):c.1467A>C (p.Glu489Asp)
|
rs2083703836
|
|
|
NM_000249.4(MLH1):c.1470G>A (p.Met490Ile)
|
rs1060500708
|
|
|
NM_000249.4(MLH1):c.1470G>C (p.Met490Ile)
|
rs1060500708
|
|
|
NM_000249.4(MLH1):c.1470G>T (p.Met490Ile)
|
rs1060500708
|
|
|
NM_000249.4(MLH1):c.1474G>C (p.Ala492Pro)
|
rs63751145
|
|
|
NM_000249.4(MLH1):c.1475C>T (p.Ala492Val)
|
rs1064794826
|
|
|
NM_000249.4(MLH1):c.1478C>T (p.Ala493Val)
|
rs1575552903
|
|
|
NM_000249.4(MLH1):c.1480T>G (p.Cys494Gly)
|
rs876660952
|
|
|
NM_000249.4(MLH1):c.1481G>A (p.Cys494Tyr)
|
rs876658198
|
|
|
NM_000249.4(MLH1):c.1484C>A (p.Thr495Asn)
|
rs1060500685
|
|
|
NM_000249.4(MLH1):c.1484C>T (p.Thr495Ile)
|
rs1060500685
|
|
|
NM_000249.4(MLH1):c.1486C>T (p.Pro496Ser)
|
rs2083708398
|
|
|
NM_000249.4(MLH1):c.1487C>A (p.Pro496His)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly)
|
rs200830026
|
|
|
NM_000249.4(MLH1):c.148A>G (p.Ile50Val)
|
rs1478334062
|
|
|
NM_000249.4(MLH1):c.148A>T (p.Ile50Phe)
|
rs1478334062
|
|
|
NM_000249.4(MLH1):c.1492A>G (p.Arg498Gly)
|
rs1553653052
|
|
|
NM_000249.4(MLH1):c.1497G>T (p.Arg499Ser)
|
rs786202768
|
|
|
NM_000249.4(MLH1):c.149T>C (p.Ile50Thr)
|
|
|
|
NM_000249.4(MLH1):c.14C>T (p.Ala5Val)
|
rs878853779
|
|
|
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)
|
rs587778920
|
|
|
NM_000249.4(MLH1):c.1501A>C (p.Ile501Leu)
|
rs748613173
|
|
|
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val)
|
rs748613173
|
|
|
NM_000249.4(MLH1):c.1501A>T (p.Ile501Phe)
|
|
|
|
NM_000249.4(MLH1):c.1502T>C (p.Ile501Thr)
|
rs587780679
|
|
|
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser)
|
rs587780679
|
|
|
NM_000249.4(MLH1):c.1504A>C (p.Asn502His)
|
|
|
|
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp)
|
rs2125902825
|
|
|
NM_000249.4(MLH1):c.1506C>G (p.Asn502Lys)
|
rs997236053
|
|
|
NM_000249.4(MLH1):c.1507C>G (p.Leu503Val)
|
|
|
|
NM_000249.4(MLH1):c.1507C>T (p.Leu503Phe)
|
rs145679961
|
|
|
NM_000249.4(MLH1):c.1510A>G (p.Thr504Ala)
|
rs1553653095
|
|
|
NM_000249.4(MLH1):c.1511C>G (p.Thr504Ser)
|
rs876660707
|
|
|
NM_000249.4(MLH1):c.1511C>T (p.Thr504Ile)
|
rs876660707
|
|
|
NM_000249.4(MLH1):c.1513A>C (p.Ser505Arg)
|
rs2125903013
|
|
|
NM_000249.4(MLH1):c.1516G>A (p.Val506Ile)
|
|
|
|
NM_000249.4(MLH1):c.1519T>A (p.Leu507Met)
|
rs864622718
|
|
|
NM_000249.4(MLH1):c.1522A>G (p.Ser508Gly)
|
|
|
|
NM_000249.4(MLH1):c.1524T>A (p.Ser508Arg)
|
|
|
|
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg)
|
rs886058383
|
|
|
NM_000249.4(MLH1):c.1525C>T (p.Leu509Phe)
|
rs267607829
|
|
|
NM_000249.4(MLH1):c.152T>C (p.Val51Ala)
|
rs1553638767
|
|
|
NM_000249.4(MLH1):c.1531G>A (p.Glu511Lys)
|
|
|
|
NM_000249.4(MLH1):c.1540A>C (p.Asn514His)
|
rs1575553896
|
|
|
NM_000249.4(MLH1):c.1540A>G (p.Asn514Asp)
|
|
|
|
NM_000249.4(MLH1):c.1542T>A (p.Asn514Lys)
|
|
|
|
NM_000249.4(MLH1):c.1543G>C (p.Glu515Gln)
|
|
|
|
NM_000249.4(MLH1):c.1546C>G (p.Gln516Glu)
|
rs1553653195
|
|
|
NM_000249.4(MLH1):c.1547A>C (p.Gln516Pro)
|
rs2125903611
|
|
|
NM_000249.4(MLH1):c.1547A>G (p.Gln516Arg)
|
rs2125903611
|
|
|
NM_000249.4(MLH1):c.1549G>A (p.Gly517Arg)
|
rs63751705
|
|
|
NM_000249.4(MLH1):c.1552C>A (p.His518Asn)
|
rs1242032417
|
|
|
NM_000249.4(MLH1):c.1552C>T (p.His518Tyr)
|
rs1242032417
|
|
|
NM_000249.4(MLH1):c.1556A>G (p.Glu519Gly)
|
|
|
|
NM_000249.4(MLH1):c.1558+6T>A
|
rs730881749
|
|
|
NM_000249.4(MLH1):c.1558G>A (p.Val520Ile)
|
rs1400889356
|
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
|
NM_000249.4(MLH1):c.1559-1345A>C
|
|
|
|
NM_000249.4(MLH1):c.1559-16_1559-15insG
|
|
|
|
NM_000249.4(MLH1):c.1559T>A (p.Val520Asp)
|
|
|
|
NM_000249.4(MLH1):c.1559T>C (p.Val520Ala)
|
rs1200485334
|
|
|
NM_000249.4(MLH1):c.1559T>G (p.Val520Gly)
|
rs1200485334
|
|
|
NM_000249.4(MLH1):c.1561C>T (p.Leu521Phe)
|
rs63751688
|
|
|
NM_000249.4(MLH1):c.1564C>G (p.Arg522Gly)
|
rs63751703
|
|
|
NM_000249.4(MLH1):c.1569G>C (p.Glu523Asp)
|
|
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
|
NM_000249.4(MLH1):c.1570A>G (p.Met524Val)
|
rs2125943681
|
|
|
NM_000249.4(MLH1):c.1572G>A (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1573T>G (p.Leu525Val)
|
rs63750137
|
|
|
NM_000249.4(MLH1):c.1574T>G (p.Leu525Trp)
|
|
|
|
NM_000249.4(MLH1):c.1578T>G (p.His526Gln)
|
rs1187742502
|
|
|
NM_000249.4(MLH1):c.1579A>G (p.Asn527Asp)
|
rs2125943905
|
|
|
NM_000249.4(MLH1):c.1581C>A (p.Asn527Lys)
|
|
|
|
NM_000249.4(MLH1):c.1582C>T (p.His528Tyr)
|
rs863224634
|
|
|
NM_000249.4(MLH1):c.1583A>G (p.His528Arg)
|
rs2084637671
|
|
|
NM_000249.4(MLH1):c.1586C>G (p.Ser529Cys)
|
rs1575594284
|
|
|
NM_000249.4(MLH1):c.1586C>T (p.Ser529Phe)
|
rs1575594284
|
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
|
NM_000249.4(MLH1):c.1589T>C (p.Phe530Ser)
|
rs1559574996
|
|
|
NM_000249.4(MLH1):c.1590C>A (p.Phe530Leu)
|
|
|
|
NM_000249.4(MLH1):c.1590C>G (p.Phe530Leu)
|
rs752241564
|
|
|
NM_000249.4(MLH1):c.1594G>T (p.Gly532Cys)
|
rs754447026
|
|
|
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)
|
rs2084640841
|
|
|
NM_000249.4(MLH1):c.1598G>A (p.Cys533Tyr)
|
rs564240478
|
|
|
NM_000249.4(MLH1):c.1598G>C (p.Cys533Ser)
|
rs564240478
|
|
|
NM_000249.4(MLH1):c.1598G>T (p.Cys533Phe)
|
rs564240478
|
|
|
NM_000249.4(MLH1):c.1601T>G (p.Val534Gly)
|
rs2125944397
|
|
|
NM_000249.4(MLH1):c.1606C>A (p.Pro536Thr)
|
rs1360598779
|
|
|
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
|
|
|
|
NM_000249.4(MLH1):c.1607C>T (p.Pro536Leu)
|
rs1553658032
|
|
|
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly)
|
rs1559575214
|
|
|
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser)
|
rs1559575256
|
|
|
NM_000249.4(MLH1):c.1618T>G (p.Leu540Val)
|
rs1448439825
|
|
|
NM_000249.4(MLH1):c.1620G>A (p.Leu540=)
|
rs786202409
|
|
|
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro)
|
rs1064793578
|
|
|
NM_000249.4(MLH1):c.1621G>T (p.Ala541Ser)
|
|
|
|
NM_000249.4(MLH1):c.1621_1622delinsTT (p.Ala541Leu)
|
rs2084646294
|
|
|
NM_000249.4(MLH1):c.1622C>T (p.Ala541Val)
|
rs757728402
|
|
|
NM_000249.4(MLH1):c.1625A>G (p.Gln542Arg)
|
rs63750511
|
|
|
NM_000249.4(MLH1):c.1625A>T (p.Gln542Leu)
|
rs63750511
|
|
|
NM_000249.4(MLH1):c.1633A>T (p.Thr545Ser)
|
|
|
|
NM_000249.4(MLH1):c.1634C>G (p.Thr545Ser)
|
|
|
|
NM_000249.4(MLH1):c.1636A>G (p.Lys546Glu)
|
rs1046979393
|
|
|
NM_000249.4(MLH1):c.163G>A (p.Gly55Ser)
|
rs1064796005
|
|
|
NM_000249.4(MLH1):c.1640_1642dup (p.Leu547dup)
|
rs1553658139
|
|
|
NM_000249.4(MLH1):c.1643A>G (p.Tyr548Cys)
|
|
|
|
NM_000249.4(MLH1):c.1645C>G (p.Leu549Val)
|
rs747090506
|
|
|
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro)
|
rs63750289
|
|
|
NM_000249.4(MLH1):c.1646T>G (p.Leu549Arg)
|
rs63750289
|
|
|
NM_000249.4(MLH1):c.1648C>G (p.Leu550Val)
|
rs1210480235
|
|
|
NM_000249.4(MLH1):c.164G>A (p.Gly55Asp)
|
rs1553638787
|
|
|
NM_000249.4(MLH1):c.164G>T (p.Gly55Val)
|
|
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
|
NM_000249.4(MLH1):c.1652A>T (p.Asn551Ile)
|
rs63750271
|
|
|
NM_000249.4(MLH1):c.1655C>T (p.Thr552Ile)
|
rs2125945758
|
|
|
NM_000249.4(MLH1):c.1658C>A (p.Thr553Asn)
|
rs781270312
|
|
|
NM_000249.4(MLH1):c.1658C>T (p.Thr553Ile)
|
rs781270312
|
|
|
NM_000249.4(MLH1):c.1663C>G (p.Leu555Val)
|
|
|
|
NM_000249.4(MLH1):c.1663_1665dup (p.Leu555dup)
|
rs2125945936
|
|
|
NM_000249.4(MLH1):c.1667+3A>C
|
rs2084657932
|
|
|
NM_000249.4(MLH1):c.1667+4A>C
|
rs983986337
|
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
|
|
NM_000249.4(MLH1):c.1667+6T>A
|
|
|
|
NM_000249.4(MLH1):c.1667+8A>C
|
rs1553658260
|
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
|
NM_000249.4(MLH1):c.1668-13T>G
|
|
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
|
NM_000249.4(MLH1):c.1668-5T>G
|
rs1559578408
|
|
|
NM_000249.4(MLH1):c.1668-9del
|
|
|
|
NM_000249.4(MLH1):c.1669GAA[1] (p.Glu558del)
|
|
|
|
NM_000249.4(MLH1):c.166C>G (p.Leu56Val)
|
|
|
|
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg)
|
rs63750059
|
|
|
NM_000249.4(MLH1):c.1680C>G (p.Phe560Leu)
|
rs2125957298
|
|
|
NM_000249.4(MLH1):c.1683C>T (p.Tyr561=)
|
rs63751393
|
|
|
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)
|
rs1553659377
|
|
|
NM_000249.4(MLH1):c.1687A>C (p.Ile563Leu)
|
rs876660124
|
|
|
NM_000249.4(MLH1):c.1687A>G (p.Ile563Val)
|
rs876660124
|
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
|
NM_000249.4(MLH1):c.1691T>C (p.Leu564Pro)
|
rs2125957548
|
|
|
NM_000249.4(MLH1):c.1693A>G (p.Ile565Val)
|
rs63750062
|
|
|
NM_000249.4(MLH1):c.1696T>C (p.Tyr566His)
|
rs730881743
|
|
|
NM_000249.4(MLH1):c.169A>C (p.Lys57Gln)
|
rs63750877
|
|
|
NM_000249.4(MLH1):c.16G>A (p.Gly6Arg)
|
|
|
|
NM_000249.4(MLH1):c.1701T>A (p.Asp567Glu)
|
rs1060500711
|
|
|
NM_000249.4(MLH1):c.1703T>C (p.Phe568Ser)
|
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
|
NM_000249.4(MLH1):c.170A>C (p.Lys57Thr)
|
rs587779955
|
|
|
NM_000249.4(MLH1):c.170A>G (p.Lys57Arg)
|
rs587779955
|
|
|
NM_000249.4(MLH1):c.170A>T (p.Lys57Met)
|
|
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
|
NM_000249.4(MLH1):c.1717G>A (p.Val573Ile)
|
rs1553659455
|
|
|
NM_000249.4(MLH1):c.1718T>C (p.Val573Ala)
|
rs2084811963
|
|
|
NM_000249.4(MLH1):c.1720C>G (p.Leu574Val)
|
rs2084812412
|
|
|
NM_000249.4(MLH1):c.1728A>C (p.Leu576Phe)
|
rs1553659479
|
|
|
NM_000249.4(MLH1):c.1729T>C (p.Ser577Pro)
|
rs2125958292
|
|
|
NM_000249.4(MLH1):c.1731+11A>T
|
rs886058384
|
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
|
NM_000249.4(MLH1):c.1731+3A>C
|
rs267607851
|
|
|
NM_000249.4(MLH1):c.1731+6T>A
|
rs587778940
|
|
|
NM_000249.4(MLH1):c.1731+6T>C
|
|
|
|
NM_000249.4(MLH1):c.1731+6T>G
|
rs587778940
|
|
|
NM_000249.4(MLH1):c.1731G>C (p.Ser577=)
|
rs63751657
|
|
|
NM_000249.4(MLH1):c.1732-19T>G
|
rs77120160
|
|
|
NM_000249.4(MLH1):c.1732-3T>G
|
rs1207710123
|
|
|
NM_000249.4(MLH1):c.1734G>C (p.Glu578Asp)
|
rs1553662589
|
|
|
NM_000249.4(MLH1):c.1736C>A (p.Pro579Gln)
|
rs2085285934
|
|
|
NM_000249.4(MLH1):c.1738G>A (p.Ala580Thr)
|
rs864622530
|
|
|
NM_000249.4(MLH1):c.1738G>C (p.Ala580Pro)
|
rs864622530
|
|
|
NM_000249.4(MLH1):c.173T>C (p.Leu58Ser)
|
|
|
|
NM_000249.4(MLH1):c.174G>T (p.Leu58Phe)
|
rs762162504
|
|
|
NM_000249.4(MLH1):c.1750G>T (p.Asp584Tyr)
|
rs2125984324
|
|
|
NM_000249.4(MLH1):c.1752C>G (p.Asp584Glu)
|
rs878853783
|
|
|
NM_000249.4(MLH1):c.1753C>T (p.Leu585Phe)
|
|
|
|
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)
|
rs267607865
|
|
|
NM_000249.4(MLH1):c.1757C>T (p.Ala586Val)
|
rs63750587
|
|
|
NM_000249.4(MLH1):c.1759A>G (p.Met587Val)
|
rs267607862
|
|
|
NM_000249.4(MLH1):c.175A>G (p.Ile59Val)
|
rs2081169952
|
|
|
NM_000249.4(MLH1):c.175A>T (p.Ile59Phe)
|
rs2081169952
|
|
|
NM_000249.4(MLH1):c.1763T>C (p.Leu588Pro)
|
rs63750575
|
|
|
NM_000249.4(MLH1):c.1765G>A (p.Ala589Thr)
|
rs1575620723
|
|
|
NM_000249.4(MLH1):c.1765G>C (p.Ala589Pro)
|
|
|
|
NM_000249.4(MLH1):c.1765G>T (p.Ala589Ser)
|
|
|
|
NM_000249.4(MLH1):c.1765_1766delinsTT (p.Ala589Phe)
|
rs1575620732
|
|
|
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)
|
rs63750016
|
|
|
NM_000249.4(MLH1):c.1768T>G (p.Leu590Val)
|
rs927866628
|
|
|
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn)
|
rs1559506199
|
|
|
NM_000249.4(MLH1):c.1771G>C (p.Asp591His)
|
rs2085295293
|
|
|
NM_000249.4(MLH1):c.1772A>G (p.Asp591Gly)
|
rs2085295506
|
|
|
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)
|
rs2125984638
|
|
|
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)
|
rs587782621
|
|
|
NM_000249.4(MLH1):c.1777C>T (p.Pro593Ser)
|
|
|
|
NM_000249.4(MLH1):c.177T>G (p.Ile59Met)
|
rs1553638801
|
|
|
NM_000249.4(MLH1):c.1780G>A (p.Glu594Lys)
|
rs1553662786
|
|
|
NM_000249.4(MLH1):c.1780G>C (p.Glu594Gln)
|
rs1553662786
|
|
|
NM_000249.4(MLH1):c.1782G>C (p.Glu594Asp)
|
rs915595144
|
|
|
NM_000249.4(MLH1):c.1783A>C (p.Ser595Arg)
|
rs876658763
|
|
|
NM_000249.4(MLH1):c.1783A>G (p.Ser595Gly)
|
|
|
|
NM_000249.4(MLH1):c.1783A>T (p.Ser595Cys)
|
rs876658763
|
|
|
NM_000249.4(MLH1):c.1786G>A (p.Gly596Ser)
|
rs1173853120
|
|
|
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys)
|
rs1416171624
|
|
|
NM_000249.4(MLH1):c.1792A>C (p.Thr598Pro)
|
rs763381491
|
|
|
NM_000249.4(MLH1):c.1795G>A (p.Glu599Lys)
|
rs1559587820
|
|
|
NM_000249.4(MLH1):c.1797G>C (p.Glu599Asp)
|
rs1297804471
|
|
|
NM_000249.4(MLH1):c.17G>T (p.Gly6Val)
|
|
|
|
NM_000249.4(MLH1):c.1801G>A (p.Asp601Asn)
|
rs2085302095
|
|
|
NM_000249.4(MLH1):c.1801G>T (p.Asp601Tyr)
|
rs2085302095
|
|
|
NM_000249.4(MLH1):c.1802A>G (p.Asp601Gly)
|
rs63750718
|
|
|
NM_000249.4(MLH1):c.1803T>A (p.Asp601Glu)
|
rs2085302536
|
|
|
NM_000249.4(MLH1):c.1805G>A (p.Gly602Asp)
|
rs1575621218
|
|
|
NM_000249.4(MLH1):c.1806_1817del (p.Pro603_Gly606del)
|
|
|
|
NM_000249.4(MLH1):c.1807C>T (p.Pro603Ser)
|
rs1575621244
|
|
|
NM_000249.4(MLH1):c.1808C>T (p.Pro603Leu)
|
rs63750876
|
|
|
NM_000249.4(MLH1):c.180G>T (p.Gln60His)
|
|
|
|
NM_000249.4(MLH1):c.1810A>C (p.Lys604Gln)
|
|
|
|
NM_000249.4(MLH1):c.1811A>G (p.Lys604Arg)
|
rs1064795524
|
|
|
NM_000249.4(MLH1):c.1811AAG[1] (p.Glu605del)
|
rs2085304896
|
|
|
NM_000249.4(MLH1):c.1814A>C (p.Glu605Ala)
|
rs2085305097
|
|
|
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg)
|
rs2125985111
|
|
|
NM_000249.4(MLH1):c.1819C>G (p.Leu607Val)
|
rs1553662916
|
|
|
NM_000249.4(MLH1):c.181A>G (p.Ile61Val)
|
rs1060500690
|
|
|
NM_000249.4(MLH1):c.1822G>C (p.Ala608Pro)
|
rs147928948
|
|
|
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
|
rs267607864
|
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
|
NM_000249.4(MLH1):c.1825G>A (p.Glu609Lys)
|
rs1064794740
|
|
|
NM_000249.4(MLH1):c.1826A>C (p.Glu609Ala)
|
rs2125985229
|
|
|
NM_000249.4(MLH1):c.182T>G (p.Ile61Ser)
|
rs1553638805
|
|
|
NM_000249.4(MLH1):c.1831A>C (p.Ile611Leu)
|
rs2085308725
|
|
|
NM_000249.4(MLH1):c.1831A>G (p.Ile611Val)
|
rs2085308725
|
|
|
NM_000249.4(MLH1):c.1832T>C (p.Ile611Thr)
|
rs141688321
|
|
|
NM_000249.4(MLH1):c.1835T>C (p.Val612Ala)
|
rs2085310197
|
|
|
NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)
|
|
|
|
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp)
|
rs876658919
|
|
|
NM_000249.4(MLH1):c.1840T>C (p.Phe614Leu)
|
rs2125985435
|
|
|
NM_000249.4(MLH1):c.1848G>T (p.Lys616Asn)
|
rs1553663004
|
|
|
NM_000249.4(MLH1):c.1849A>G (p.Lys617Glu)
|
rs1575621757
|
|
|
NM_000249.4(MLH1):c.1850A>T (p.Lys617Met)
|
rs780199021
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1854G>A (p.Lys618=)
|
rs786202638
|
|
|
NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)
|
rs267607866
|
|
|
NM_000249.4(MLH1):c.1855G>T (p.Ala619Ser)
|
rs267607866
|
|
|
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro)
|
rs2081171469
|
|
|
NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)
|
rs2081171469
|
|
|
NM_000249.4(MLH1):c.1864C>G (p.Leu622Val)
|
|
|
|
NM_000249.4(MLH1):c.1864C>T (p.Leu622Phe)
|
|
|
|
NM_000249.4(MLH1):c.1867G>C (p.Ala623Pro)
|
rs587778951
|
|
|
NM_000249.4(MLH1):c.1868C>T (p.Ala623Val)
|
rs1060500686
|
|
|
NM_000249.4(MLH1):c.186A>G (p.Gln62=)
|
rs1559506261
|
|
|
NM_000249.4(MLH1):c.1871A>T (p.Asp624Val)
|
rs2125985850
|
|
|
NM_000249.4(MLH1):c.1872_1886del (p.Asp624_Leu628del)
|
rs2085318332
|
|
|
NM_000249.4(MLH1):c.1873T>C (p.Tyr625His)
|
rs1413395234
|
|
|
NM_000249.4(MLH1):c.1874A>C (p.Tyr625Ser)
|
|
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
|
NM_000249.4(MLH1):c.1878C>A (p.Phe626Leu)
|
rs63751214
|
|
|
NM_000249.4(MLH1):c.1879T>G (p.Ser627Ala)
|
|
|
|
NM_000249.4(MLH1):c.1880C>G (p.Ser627Cys)
|
rs2085321507
|
|
|
NM_000249.4(MLH1):c.1882T>G (p.Leu628Val)
|
|
|
|
NM_000249.4(MLH1):c.1883T>C (p.Leu628Ser)
|
rs1553663159
|
|
|
NM_000249.4(MLH1):c.1887A>T (p.Glu629Asp)
|
rs1064794506
|
|
|
NM_000249.4(MLH1):c.1888A>G (p.Ile630Val)
|
rs2125986105
|
|
|
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn)
|
rs1559588836
|
|
|
NM_000249.4(MLH1):c.1889T>C (p.Ile630Thr)
|
|
|
|
NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)
|
|
|
|
NM_000249.4(MLH1):c.1895A>G (p.Glu632Gly)
|
rs1064793638
|
|
|
NM_000249.4(MLH1):c.1896+179G>C
|
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.1897-3C>G
|
rs748763466
|
|
|
NM_000249.4(MLH1):c.1897G>A (p.Glu633Lys)
|
|
|
|
NM_000249.4(MLH1):c.1905C>A (p.Asn635Lys)
|
rs63751047
|
|
|
NM_000249.4(MLH1):c.1905C>G (p.Asn635Lys)
|
rs63751047
|
|
|
NM_000249.4(MLH1):c.1906C>G (p.Leu636Val)
|
rs864622673
|
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
|
NM_000249.4(MLH1):c.1909A>G (p.Ile637Val)
|
|
|
|
NM_000249.4(MLH1):c.190A>T (p.Asn64Tyr)
|
rs1553638834
|
|
|
NM_000249.4(MLH1):c.1910T>C (p.Ile637Thr)
|
rs1575627499
|
|
|
NM_000249.4(MLH1):c.1910T>G (p.Ile637Ser)
|
rs1575627499
|
|
|
NM_000249.4(MLH1):c.1911T>G (p.Ile637Met)
|
rs876660209
|
|
|
NM_000249.4(MLH1):c.1912G>C (p.Gly638Arg)
|
rs63750549
|
|
|
NM_000249.4(MLH1):c.1916T>C (p.Leu639Ser)
|
|
|
|
NM_000249.4(MLH1):c.1917A>T (p.Leu639Phe)
|
rs63750935
|
|
|
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)
|
rs577217817
|
|
|
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln)
|
rs1559590916
|
|
|
NM_000249.4(MLH1):c.1927A>G (p.Ile643Val)
|
|
|
|
NM_000249.4(MLH1):c.1928T>C (p.Ile643Thr)
|
rs1553663856
|
|
|
NM_000249.4(MLH1):c.1934A>G (p.Asn645Ser)
|
rs587778963
|
|
|
NM_000249.4(MLH1):c.1935C>A (p.Asn645Lys)
|
rs863224636
|
|
|
NM_000249.4(MLH1):c.1935C>G (p.Asn645Lys)
|
rs863224636
|
|
|
NM_000249.4(MLH1):c.1936T>A (p.Tyr646Asn)
|
rs1553663884
|
|
|
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His)
|
rs1553663884
|
|
|
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser)
|
rs35045067
|
|
|
NM_000249.4(MLH1):c.1939G>T (p.Val647Leu)
|
rs63750109
|
|
|
NM_000249.4(MLH1):c.1940T>C (p.Val647Ala)
|
rs876660811
|
|
|
NM_000249.4(MLH1):c.1946C>T (p.Pro649Leu)
|
rs2125990619
|
|
|
NM_000249.4(MLH1):c.1949T>C (p.Leu650Ser)
|
rs1553663957
|
|
|
NM_000249.4(MLH1):c.194G>T (p.Gly65Val)
|
rs63751465
|
|
|
NM_000249.4(MLH1):c.1955G>A (p.Gly652Glu)
|
rs1575628331
|
|
|
NM_000249.4(MLH1):c.1957C>G (p.Leu653Val)
|
rs2125990784
|
|
|
NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)
|
rs1559591314
|
|
|
NM_000249.4(MLH1):c.1962_1967dup (p.Ile657_Leu658insPheIle)
|
|
|
|
NM_000249.4(MLH1):c.1963A>T (p.Ile655Phe)
|
rs55907433
|
|
|
NM_000249.4(MLH1):c.1966T>G (p.Phe656Val)
|
|
|
|
NM_000249.4(MLH1):c.1969A>G (p.Ile657Val)
|
rs765363859
|
|
|
NM_000249.4(MLH1):c.196A>G (p.Thr66Ala)
|
rs876660926
|
|
|
NM_000249.4(MLH1):c.196A>T (p.Thr66Ser)
|
|
|
|
NM_000249.4(MLH1):c.1970T>C (p.Ile657Thr)
|
rs2085425794
|
|
|
NM_000249.4(MLH1):c.1972C>A (p.Leu658Ile)
|
|
|
|
NM_000249.4(MLH1):c.1972C>T (p.Leu658Phe)
|
rs1575628596
|
|
|
NM_000249.4(MLH1):c.1973T>C (p.Leu658Pro)
|
rs786202050
|
|
|
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)
|
rs1559591546
|
|
|
NM_000249.4(MLH1):c.1984A>G (p.Thr662Ala)
|
|
|
|
NM_000249.4(MLH1):c.1984A>T (p.Thr662Ser)
|
rs587778964
|
|
|
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile)
|
rs1559591605
|
|
|
NM_000249.4(MLH1):c.1987G>A (p.Glu663Lys)
|
rs876658883
|
|
|
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)
|
rs63751682
|
|
|
NM_000249.4(MLH1):c.1989+4A>C
|
rs587778965
|
|
|
NM_000249.4(MLH1):c.1989+4A>G
|
rs587778965
|
|
|
NM_000249.4(MLH1):c.1989+5G>A
|
rs267607878
|
|
|
NM_000249.4(MLH1):c.1989+6T>C
|
rs1206881555
|
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
|
NM_000249.4(MLH1):c.1990-4C>G
|
|
|
|
NM_000249.4(MLH1):c.1990-7G>A
|
rs1553664282
|
|
|
NM_000249.4(MLH1):c.1991T>G (p.Val664Gly)
|
rs786202938
|
|
|
NM_000249.4(MLH1):c.1993A>G (p.Asn665Asp)
|
rs1251779788
|
|
|
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser)
|
rs886039424
|
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.2001C>A (p.Asp667Glu)
|
rs63750014
|
|
|
NM_000249.4(MLH1):c.2002G>A (p.Glu668Lys)
|
rs63750292
|
|
|
NM_000249.4(MLH1):c.2003A>G (p.Glu668Gly)
|
rs1559592416
|
|
|
NM_000249.4(MLH1):c.2005G>A (p.Glu669Lys)
|
rs780406337
|
|
|
NM_000249.4(MLH1):c.2006A>G (p.Glu669Gly)
|
rs2085464245
|
|
|
NM_000249.4(MLH1):c.2009A>G (p.Lys670Arg)
|
rs905983196
|
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
|
NM_000249.4(MLH1):c.2012A>C (p.Glu671Ala)
|
rs864622182
|
|
|
NM_000249.4(MLH1):c.2012A>G (p.Glu671Gly)
|
rs864622182
|
|
|
NM_000249.4(MLH1):c.2014T>A (p.Cys672Ser)
|
rs2085466553
|
|
|
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)
|
rs755577490
|
|
|
NM_000249.4(MLH1):c.2024G>A (p.Ser675Asn)
|
rs781637991
|
|
|
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr)
|
rs781637991
|
|
|
NM_000249.4(MLH1):c.2024G>T (p.Ser675Ile)
|
rs781637991
|
|
|
NM_000249.4(MLH1):c.2027T>A (p.Leu676His)
|
|
|
|
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)
|
rs63750242
|
|
|
NM_000249.4(MLH1):c.2029A>G (p.Ser677Gly)
|
|
|
|
NM_000249.4(MLH1):c.2029A>T (p.Ser677Cys)
|
rs587780681
|
|
|
NM_000249.4(MLH1):c.2030G>A (p.Ser677Asn)
|
rs587778970
|
|
|
NM_000249.4(MLH1):c.2030G>C (p.Ser677Thr)
|
rs587778970
|
|
|
NM_000249.4(MLH1):c.2030G>T (p.Ser677Ile)
|
rs587778970
|
|
|
NM_000249.4(MLH1):c.2031T>G (p.Ser677Arg)
|
rs2125993439
|
|
|
NM_000249.4(MLH1):c.2032A>G (p.Lys678Glu)
|
rs1553664436
|
|
|
NM_000249.4(MLH1):c.2033A>G (p.Lys678Arg)
|
rs1559592677
|
|
|
NM_000249.4(MLH1):c.2036A>C (p.Glu679Ala)
|
rs749305196
|
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
|
NM_000249.4(MLH1):c.2044A>G (p.Met682Val)
|
rs2085473279
|
|
|
NM_000249.4(MLH1):c.2045T>C (p.Met682Thr)
|
rs1060500693
|
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
|
NM_000249.4(MLH1):c.2049C>G (p.Phe683Leu)
|
rs1449199195
|
|
|
NM_000249.4(MLH1):c.204C>G (p.Ile68Met)
|
rs780141938
|
|
|
NM_000249.4(MLH1):c.2050T>G (p.Tyr684Asp)
|
rs1386031101
|
|
|
NM_000249.4(MLH1):c.2051A>C (p.Tyr684Ser)
|
rs267607886
|
|
|
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)
|
rs267607886
|
|
|
NM_000249.4(MLH1):c.2051A>T (p.Tyr684Phe)
|
|
|
|
NM_000249.4(MLH1):c.2053T>G (p.Ser685Ala)
|
rs2085475142
|
|
|
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr)
|
rs1064796101
|
|
|
NM_000249.4(MLH1):c.2056A>G (p.Ile686Val)
|
|
|
|
NM_000249.4(MLH1):c.2057T>C (p.Ile686Thr)
|
rs1575631789
|
|
|
NM_000249.4(MLH1):c.2058C>G (p.Ile686Met)
|
rs1242136178
|
|
|
NM_000249.4(MLH1):c.2059C>G (p.Arg687Gly)
|
rs63751275
|
|
|
NM_000249.4(MLH1):c.2065C>A (p.Gln689Lys)
|
rs41542214
|
|
|
NM_000249.4(MLH1):c.2066A>T (p.Gln689Leu)
|
|
|
|
NM_000249.4(MLH1):c.2067G>C (p.Gln689His)
|
|
|
|
NM_000249.4(MLH1):c.2068T>C (p.Tyr690His)
|
|
|
|
NM_000249.4(MLH1):c.2068T>G (p.Tyr690Asp)
|
|
|
|
NM_000249.4(MLH1):c.2069A>C (p.Tyr690Ser)
|
rs2085479072
|
|
|
NM_000249.4(MLH1):c.2069A>G (p.Tyr690Cys)
|
rs2085479072
|
|
|
NM_000249.4(MLH1):c.206G>A (p.Arg69Lys)
|
rs63751661
|
|
|
NM_000249.4(MLH1):c.206G>C (p.Arg69Thr)
|
rs63751661
|
|
|
NM_000249.4(MLH1):c.207+346G>C
|
|
|
|
NM_000249.4(MLH1):c.207+3A>G
|
rs1184598875
|
|
|
NM_000249.4(MLH1):c.207+4A>G
|
rs751630726
|
|
|
NM_000249.4(MLH1):c.207+5G>A
|
rs587781518
|
|
|
NM_000249.4(MLH1):c.2071A>C (p.Ile691Leu)
|
rs201748079
|
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
|
NM_000249.4(MLH1):c.2077GAG[1] (p.Glu694del)
|
rs1575632231
|
|
|
NM_000249.4(MLH1):c.2079G>C (p.Glu693Asp)
|
|
|
|
NM_000249.4(MLH1):c.208-17T>A
|
|
|
|
NM_000249.4(MLH1):c.208-7C>G
|
rs2125735235
|
|
|
NM_000249.4(MLH1):c.208-8T>A
|
|
|
|
NM_000249.4(MLH1):c.208-8T>C
|
rs2081459296
|
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
|
NM_000249.4(MLH1):c.2081A>C (p.Glu694Ala)
|
|
|
|
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp)
|
rs63749995
|
|
|
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu)
|
rs63749995
|
|
|
NM_000249.4(MLH1):c.2086A>G (p.Thr696Ala)
|
rs2148511936
|
|
|
NM_000249.4(MLH1):c.2087C>A (p.Thr696Asn)
|
rs868502951
|
|
|
NM_000249.4(MLH1):c.2087C>T (p.Thr696Ile)
|
rs868502951
|
|
|
NM_000249.4(MLH1):c.2089C>G (p.Leu697Val)
|
rs876661149
|
|
|
NM_000249.4(MLH1):c.208A>G (p.Lys70Glu)
|
rs1241846894
|
|
|
NM_000249.4(MLH1):c.2093C>T (p.Ser698Leu)
|
rs587778975
|
|
|
NM_000249.4(MLH1):c.2098C>A (p.Gln700Lys)
|
|
|
|
NM_000249.4(MLH1):c.2099A>G (p.Gln700Arg)
|
rs2148512249
|
|
|
NM_000249.4(MLH1):c.209A>G (p.Lys70Arg)
|
|
|
|
NM_000249.4(MLH1):c.20T>C (p.Val7Ala)
|
|
|
|
NM_000249.4(MLH1):c.2103+4C>G
|
rs1575632698
|
|
|
NM_000249.4(MLH1):c.2103+6G>C
|
rs1057521607
|
|
|
NM_000249.4(MLH1):c.2103G>A (p.Gln701=)
|
rs63750603
|
|
|
NM_000249.4(MLH1):c.2104-10T>G
|
rs2148521562
|
|
|
NM_000249.4(MLH1):c.2104-13A>T
|
|
|
|
NM_000249.4(MLH1):c.2104-3C>T
|
|
|
|
NM_000249.4(MLH1):c.2104-4C>G
|
|
|
|
NM_000249.4(MLH1):c.2104-6T>C
|
rs2148521621
|
|
|
NM_000249.4(MLH1):c.2105G>A (p.Ser702Asn)
|
|
|
|
NM_000249.4(MLH1):c.2107G>C (p.Glu703Gln)
|
rs747727493
|
|
|
NM_000249.4(MLH1):c.2108A>C (p.Glu703Ala)
|
rs1553665500
|
|
|
NM_000249.4(MLH1):c.2110G>A (p.Val704Met)
|
rs587781811
|
|
|
NM_000249.4(MLH1):c.2110G>C (p.Val704Leu)
|
rs587781811
|
|
|
NM_000249.4(MLH1):c.2111T>C (p.Val704Ala)
|
rs587780682
|
|
|
NM_000249.4(MLH1):c.2111T>G (p.Val704Gly)
|
rs587780682
|
|
|
NM_000249.4(MLH1):c.2119T>C (p.Ser707Pro)
|
rs1575639437
|
|
|
NM_000249.4(MLH1):c.2123T>C (p.Ile708Thr)
|
rs1559595807
|
|
|
NM_000249.4(MLH1):c.2126C>G (p.Pro709Arg)
|
|
|
|
NM_000249.4(MLH1):c.2128A>C (p.Asn710His)
|
rs1559595840
|
|
|
NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)
|
rs1559595840
|
|
|
NM_000249.4(MLH1):c.212A>G (p.Glu71Gly)
|
rs1553640185
|
|
|
NM_000249.4(MLH1):c.2130C>G (p.Asn710Lys)
|
rs749100096
|
|
|
NM_000249.4(MLH1):c.2131T>C (p.Ser711Pro)
|
rs587781342
|
|
|
NM_000249.4(MLH1):c.2134T>C (p.Trp712Arg)
|
|
|
|
NM_000249.4(MLH1):c.2136G>C (p.Trp712Cys)
|
rs63750499
|
|
|
NM_000249.4(MLH1):c.2138A>C (p.Lys713Thr)
|
rs878853786
|
|
|
NM_000249.4(MLH1):c.2139G>C (p.Lys713Asn)
|
rs2085624190
|
|
|
NM_000249.4(MLH1):c.2140T>C (p.Trp714Arg)
|
rs1575639745
|
|
|
NM_000249.4(MLH1):c.2149G>A (p.Glu717Lys)
|
rs1575639882
|
|
|
NM_000249.4(MLH1):c.214G>A (p.Asp72Asn)
|
rs1553640187
|
|
|
NM_000249.4(MLH1):c.214G>T (p.Asp72Tyr)
|
rs1553640187
|
|
|
NM_000249.4(MLH1):c.2154C>A (p.His718Gln)
|
|
|
|
NM_000249.4(MLH1):c.2155A>C (p.Ile719Leu)
|
rs754225520
|
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
|
NM_000249.4(MLH1):c.2156T>C (p.Ile719Thr)
|
rs757603534
|
|
|
NM_000249.4(MLH1):c.2157T>G (p.Ile719Met)
|
rs2148523430
|
|
|
NM_000249.4(MLH1):c.2159T>C (p.Val720Ala)
|
rs587778985
|
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
|
NM_000249.4(MLH1):c.215A>G (p.Asp72Gly)
|
rs1553640189
|
|
|
NM_000249.4(MLH1):c.2162A>C (p.Tyr721Ser)
|
rs587778986
|
|
|
NM_000249.4(MLH1):c.2164A>G (p.Lys722Glu)
|
rs750596783
|
|
|
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)
|
rs786203433
|
|
|
NM_000249.4(MLH1):c.2173C>A (p.Arg725Ser)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.2179C>T (p.His727Tyr)
|
rs2085636960
|
|
|
NM_000249.4(MLH1):c.217C>A (p.Leu73Met)
|
rs766608278
|
|
|
NM_000249.4(MLH1):c.217C>G (p.Leu73Val)
|
rs766608278
|
|
|
NM_000249.4(MLH1):c.2180A>G (p.His727Arg)
|
rs104895002
|
|
|
NM_000249.4(MLH1):c.2180A>T (p.His727Leu)
|
rs104895002
|
|
|
NM_000249.4(MLH1):c.2181C>G (p.His727Gln)
|
|
|
|
NM_000249.4(MLH1):c.2182A>T (p.Ile728Phe)
|
rs2148524105
|
|
|
NM_000249.4(MLH1):c.2184T>G (p.Ile728Met)
|
rs1057524100
|
|
|
NM_000249.4(MLH1):c.2186T>C (p.Leu729Pro)
|
rs1553665798
|
|
|
NM_000249.4(MLH1):c.2189C>T (p.Pro730Leu)
|
rs2085638799
|
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
|
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser)
|
rs876661188
|
|
|
NM_000249.4(MLH1):c.2192C>A (p.Pro731His)
|
rs2148524373
|
|
|
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln)
|
rs267607906
|
|
|
NM_000249.4(MLH1):c.2194A>G (p.Lys732Glu)
|
rs267607906
|
|
|
NM_000249.4(MLH1):c.2195A>C (p.Lys732Thr)
|
rs2148524501
|
|
|
NM_000249.4(MLH1):c.2197C>T (p.His733Tyr)
|
rs1553665846
|
|
|
NM_000249.4(MLH1):c.2198A>G (p.His733Arg)
|
rs770579083
|
|
|
NM_000249.4(MLH1):c.2204C>G (p.Thr735Arg)
|
rs1462634271
|
|
|
NM_000249.4(MLH1):c.2204C>T (p.Thr735Ile)
|
rs1462634271
|
|
|
NM_000249.4(MLH1):c.220G>A (p.Asp74Asn)
|
rs1559511890
|
|
|
NM_000249.4(MLH1):c.220G>T (p.Asp74Tyr)
|
|
|
|
NM_000249.4(MLH1):c.2210A>G (p.Asp737Gly)
|
rs267607885
|
|
|
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)
|
rs267607885
|
|
|
NM_000249.4(MLH1):c.2216A>C (p.Asn739Thr)
|
rs2148524934
|
|
|
NM_000249.4(MLH1):c.2217T>G (p.Asn739Lys)
|
rs1553665880
|
|
|
NM_000249.4(MLH1):c.2220C>G (p.Ile740Met)
|
rs1313998916
|
|
|
NM_000249.4(MLH1):c.2221C>A (p.Leu741Met)
|
rs786203583
|
|
|
NM_000249.4(MLH1):c.2227C>T (p.Leu743Phe)
|
rs1575641138
|
|
|
NM_000249.4(MLH1):c.2228T>A (p.Leu743His)
|
rs864622258
|
|
|
NM_000249.4(MLH1):c.2231C>T (p.Ala744Val)
|
rs775127059
|
|
|
NM_000249.4(MLH1):c.2237T>C (p.Leu746Pro)
|
rs2085649541
|
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
|
NM_000249.4(MLH1):c.223A>G (p.Ile75Val)
|
rs1060500701
|
|
|
NM_000249.4(MLH1):c.223A>T (p.Ile75Phe)
|
rs1060500701
|
|
|
NM_000249.4(MLH1):c.2242G>A (p.Asp748Asn)
|
rs374380262
|
|
|
NM_000249.4(MLH1):c.2248T>C (p.Tyr750His)
|
rs777054430
|
|
|
NM_000249.4(MLH1):c.2249A>C (p.Tyr750Ser)
|
|
|
|
NM_000249.4(MLH1):c.2249A>G (p.Tyr750Cys)
|
rs2085652372
|
|
|
NM_000249.4(MLH1):c.224T>C (p.Ile75Thr)
|
rs876660839
|
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
|
NM_000249.4(MLH1):c.2252_2254dup (p.Lys751_Val752insGlu)
|
|
|
|
NM_000249.4(MLH1):c.2255T>C (p.Val752Ala)
|
|
|
|
NM_000249.4(MLH1):c.2260G>A (p.Glu754Lys)
|
rs864622445
|
|
|
NM_000249.4(MLH1):c.2260G>C (p.Glu754Gln)
|
|
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
|
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser)
|
rs267607895
|
|
|
NM_000249.4(MLH1):c.2266T>G (p.Cys756Gly)
|
rs765480781
|
|
|
NM_000249.4(MLH1):c.2267G>A (p.Cys756Tyr)
|
rs1553666145
|
|
|
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys)
|
rs587778995
|
|
|
NM_000249.4(MLH1):c.226G>T (p.Val76Leu)
|
rs878853788
|
|
|
NM_000249.4(MLH1):c.2271_*3dup (p.Ter757=)
|
rs2148526779
|
|
|
NM_000249.4(MLH1):c.227T>A (p.Val76Glu)
|
rs1434599441
|
|
|
NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)
|
rs63749859
|
|
|
NM_000249.4(MLH1):c.22A>C (p.Ile8Leu)
|
|
|
|
NM_000249.4(MLH1):c.22A>T (p.Ile8Phe)
|
|
|
|
NM_000249.4(MLH1):c.233A>C (p.Glu78Ala)
|
rs1575414337
|
|
|
NM_000249.4(MLH1):c.235A>G (p.Arg79Gly)
|
rs786203362
|
|
|
NM_000249.4(MLH1):c.236G>A (p.Arg79Lys)
|
rs1553640212
|
|
|
NM_000249.4(MLH1):c.236G>C (p.Arg79Thr)
|
rs1553640212
|
|
|
NM_000249.4(MLH1):c.239T>A (p.Phe80Tyr)
|
rs753404814
|
|
|
NM_000249.4(MLH1):c.241A>G (p.Thr81Ala)
|
rs786203745
|
|
|
NM_000249.4(MLH1):c.241A>T (p.Thr81Ser)
|
rs786203745
|
|
|
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)
|
rs63751069
|
|
|
NM_000249.4(MLH1):c.247A>G (p.Ser83Gly)
|
rs2081468492
|
|
|
NM_000249.4(MLH1):c.248G>A (p.Ser83Asn)
|
rs587778999
|
|
|
NM_000249.4(MLH1):c.24T>G (p.Ile8Met)
|
rs748406142
|
|
|
NM_000249.4(MLH1):c.254T>G (p.Leu85Arg)
|
|
|
|
NM_000249.4(MLH1):c.256C>G (p.Gln86Glu)
|
rs63751421
|
|
|
NM_000249.4(MLH1):c.257A>G (p.Gln86Arg)
|
rs2081469629
|
|
|
NM_000249.4(MLH1):c.259T>G (p.Ser87Ala)
|
|
|
|
NM_000249.4(MLH1):c.25C>G (p.Arg9Gly)
|
rs587779000
|
|
|
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)
|
rs587779000
|
|
|
NM_000249.4(MLH1):c.260C>G (p.Ser87Cys)
|
rs2081469787
|
|
|
NM_000249.4(MLH1):c.260C>T (p.Ser87Phe)
|
|
|
|
NM_000249.4(MLH1):c.265G>A (p.Glu89Lys)
|
rs11541859
|
|
|
NM_000249.4(MLH1):c.268G>A (p.Asp90Asn)
|
|
|
|
NM_000249.4(MLH1):c.269A>G (p.Asp90Gly)
|
rs2081471668
|
|
|
NM_000249.4(MLH1):c.26_27delinsAT (p.Arg9His)
|
rs2125693660
|
|
|
NM_000249.4(MLH1):c.274G>A (p.Ala92Thr)
|
|
|
|
NM_000249.4(MLH1):c.278G>A (p.Ser93Asn)
|
rs1553640288
|
|
|
NM_000249.4(MLH1):c.282T>G (p.Ile94Met)
|
|
|
|
NM_000249.4(MLH1):c.287C>A (p.Thr96Asn)
|
rs926905165
|
|
|
NM_000249.4(MLH1):c.287C>T (p.Thr96Ile)
|
rs926905165
|
|
|
NM_000249.4(MLH1):c.288C>G (p.Thr96=)
|
rs2125736723
|
|
|
NM_000249.4(MLH1):c.289T>G (p.Tyr97Asp)
|
rs1553640297
|
|
|
NM_000249.4(MLH1):c.28C>G (p.Arg10Gly)
|
rs1193754562
|
|
|
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)
|
rs1193754562
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe)
|
rs1553640314
|
|
|
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp)
|
rs863225382
|
|
|
NM_000249.4(MLH1):c.296T>G (p.Phe99Cys)
|
rs2081475505
|
|
|
NM_000249.4(MLH1):c.298C>G (p.Arg100Gly)
|
|
|
|
NM_000249.4(MLH1):c.299G>T (p.Arg100Leu)
|
rs63750266
|
|
|
NM_000249.4(MLH1):c.306+4A>T
|
|
|
|
NM_000249.4(MLH1):c.306+6C>T
|
rs746641892
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.307G>A (p.Ala103Thr)
|
rs587779003
|
|
|
NM_000249.4(MLH1):c.307G>C (p.Ala103Pro)
|
rs587779003
|
|
|
NM_000249.4(MLH1):c.308C>T (p.Ala103Val)
|
rs2125756545
|
|
|
NM_000249.4(MLH1):c.311T>C (p.Leu104Ser)
|
rs63751397
|
|
|
NM_000249.4(MLH1):c.312G>A (p.Leu104=)
|
rs2081707741
|
|
|
NM_000249.4(MLH1):c.313G>A (p.Ala105Thr)
|
|
|
|
NM_000249.4(MLH1):c.313G>T (p.Ala105Ser)
|
|
|
|
NM_000249.4(MLH1):c.314C>A (p.Ala105Asp)
|
rs867655979
|
|
|
NM_000249.4(MLH1):c.314C>T (p.Ala105Val)
|
rs867655979
|
|
|
NM_000249.4(MLH1):c.316A>G (p.Ser106Gly)
|
rs1553641257
|
|
|
NM_000249.4(MLH1):c.317G>T (p.Ser106Ile)
|
rs368208495
|
|
|
NM_000249.4(MLH1):c.318C>G (p.Ser106Arg)
|
rs63750297
|
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
|
NM_000249.4(MLH1):c.31C>G (p.Leu11Val)
|
rs864622596
|
|
|
NM_000249.4(MLH1):c.323G>A (p.Ser108Asn)
|
rs1553641270
|
|
|
NM_000249.4(MLH1):c.325C>T (p.His109Tyr)
|
|
|
|
NM_000249.4(MLH1):c.326A>C (p.His109Pro)
|
rs587779004
|
|
|
NM_000249.4(MLH1):c.326A>G (p.His109Arg)
|
rs587779004
|
|
|
NM_000249.4(MLH1):c.328G>A (p.Val110Met)
|
|
|
|
NM_000249.4(MLH1):c.328G>C (p.Val110Leu)
|
|
|
|
NM_000249.4(MLH1):c.329T>G (p.Val110Gly)
|
rs1559517201
|
|
|
NM_000249.4(MLH1):c.32T>C (p.Leu11Pro)
|
rs1575375926
|
|
|
NM_000249.4(MLH1):c.32T>G (p.Leu11Arg)
|
rs1575375926
|
|
|
NM_000249.4(MLH1):c.334C>G (p.His112Asp)
|
rs1559517227
|
|
|
NM_000249.4(MLH1):c.338T>A (p.Val113Asp)
|
rs63750559
|
|
|
NM_000249.4(MLH1):c.340A>G (p.Thr114Ala)
|
rs1553641301
|
|
|
NM_000249.4(MLH1):c.341C>T (p.Thr114Ile)
|
rs2125757062
|
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
|
NM_000249.4(MLH1):c.347C>T (p.Thr116Ile)
|
rs63750465
|
|
|
NM_000249.4(MLH1):c.349A>G (p.Thr117Ala)
|
rs965720330
|
|
|
NM_000249.4(MLH1):c.352A>C (p.Lys118Gln)
|
|
|
|
NM_000249.4(MLH1):c.359C>T (p.Ala120Val)
|
rs267607740
|
|
|
NM_000249.4(MLH1):c.35A>G (p.Asp12Gly)
|
rs1553637200
|
|
|
NM_000249.4(MLH1):c.361G>C (p.Asp121His)
|
|
|
|
NM_000249.4(MLH1):c.362A>G (p.Asp121Gly)
|
rs730881735
|
|
|
NM_000249.4(MLH1):c.362A>T (p.Asp121Val)
|
rs730881735
|
|
|
NM_000249.4(MLH1):c.364G>A (p.Gly122Arg)
|
|
|
|
NM_000249.4(MLH1):c.366A>T (p.Gly122=)
|
rs1553641343
|
|
|
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu)
|
rs587782181
|
|
|
NM_000249.4(MLH1):c.371G>C (p.Cys124Ser)
|
rs730881736
|
|
|
NM_000249.4(MLH1):c.372T>C (p.Cys124=)
|
|
|
|
NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)
|
|
|
|
NM_000249.4(MLH1):c.374C>T (p.Ala125Val)
|
rs1553641362
|
|
|
NM_000249.4(MLH1):c.376T>C (p.Tyr126His)
|
|
|
|
NM_000249.4(MLH1):c.379A>G (p.Arg127Gly)
|
|
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
|
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)
|
rs587779008
|
|
|
NM_000249.4(MLH1):c.380+3A>T
|
rs876661114
|
|
|
NM_000249.4(MLH1):c.380+4_380+5del
|
rs2081722551
|
|
|
NM_000249.4(MLH1):c.380+6G>T
|
rs1185917556
|
|
|
NM_000249.4(MLH1):c.382G>A (p.Ala128Thr)
|
rs63750866
|
|
|
NM_000249.4(MLH1):c.382G>T (p.Ala128Ser)
|
rs63750866
|
|
|
NM_000249.4(MLH1):c.383C>G (p.Ala128Gly)
|
rs1064796093
|
|
|
NM_000249.4(MLH1):c.385A>C (p.Ser129Arg)
|
rs1333790237
|
|
|
NM_000249.4(MLH1):c.38A>G (p.Glu13Gly)
|
rs1575376099
|
|
|
NM_000249.4(MLH1):c.392C>T (p.Ser131Leu)
|
rs63749818
|
|
|
NM_000249.4(MLH1):c.395A>G (p.Asp132Gly)
|
rs1553642067
|
|
|
NM_000249.4(MLH1):c.399A>T (p.Gly133=)
|
rs1559521083
|
|
|
NM_000249.4(MLH1):c.400A>G (p.Lys134Glu)
|
rs1060500710
|
|
|
NM_000249.4(MLH1):c.401A>G (p.Lys134Arg)
|
rs2081924052
|
|
|
NM_000249.4(MLH1):c.401A>T (p.Lys134Ile)
|
|
|
|
NM_000249.4(MLH1):c.404T>C (p.Leu135Pro)
|
rs753233578
|
|
|
NM_000249.4(MLH1):c.406A>G (p.Lys136Glu)
|
rs1575440595
|
|
|
NM_000249.4(MLH1):c.407A>G (p.Lys136Arg)
|
|
|
|
NM_000249.4(MLH1):c.40A>G (p.Thr14Ala)
|
rs2125693873
|
|
|
NM_000249.4(MLH1):c.410C>G (p.Ala137Gly)
|
|
|
|
NM_000249.4(MLH1):c.410C>T (p.Ala137Val)
|
rs63750817
|
|
|
NM_000249.4(MLH1):c.413C>G (p.Pro138Arg)
|
rs1178996479
|
|
|
NM_000249.4(MLH1):c.413C>T (p.Pro138Leu)
|
rs1178996479
|
|
|
NM_000249.4(MLH1):c.415C>A (p.Pro139Thr)
|
rs779562531
|
|
|
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)
|
rs779562531
|
|
|
NM_000249.4(MLH1):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_000249.4(MLH1):c.41C>T (p.Thr14Ile)
|
rs774363593
|
|
|
NM_000249.4(MLH1):c.421C>A (p.Pro141Thr)
|
rs63750977
|
|
|
NM_000249.4(MLH1):c.421C>T (p.Pro141Ser)
|
rs63750977
|
|
|
NM_000249.4(MLH1):c.422C>G (p.Pro141Arg)
|
rs746419577
|
|
|
NM_000249.4(MLH1):c.422C>T (p.Pro141Leu)
|
rs746419577
|
|
|
NM_000249.4(MLH1):c.424T>A (p.Cys142Ser)
|
rs780232692
|
|
|
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg)
|
rs780232692
|
|
|
NM_000249.4(MLH1):c.425G>C (p.Cys142Ser)
|
rs1553642098
|
|
|
NM_000249.4(MLH1):c.425G>T (p.Cys142Phe)
|
rs1553642098
|
|
|
NM_000249.4(MLH1):c.427G>T (p.Ala143Ser)
|
rs876659668
|
|
|
NM_000249.4(MLH1):c.428C>T (p.Ala143Val)
|
rs1553642106
|
|
|
NM_000249.4(MLH1):c.429T>A (p.Ala143=)
|
rs2081928474
|
|
|
NM_000249.4(MLH1):c.430G>A (p.Gly144Ser)
|
|
|
|
NM_000249.4(MLH1):c.430G>T (p.Gly144Cys)
|
|
|
|
NM_000249.4(MLH1):c.431G>A (p.Gly144Asp)
|
rs2081928693
|
|
|
NM_000249.4(MLH1):c.432C>T (p.Gly144=)
|
rs1553642108
|
|
|
NM_000249.4(MLH1):c.433A>G (p.Asn145Asp)
|
|
|
|
NM_000249.4(MLH1):c.434A>G (p.Asn145Ser)
|
rs1553642117
|
|
|
NM_000249.4(MLH1):c.437A>G (p.Gln146Arg)
|
rs1559521320
|
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
|
NM_000249.4(MLH1):c.43G>A (p.Val15Met)
|
rs876660301
|
|
|
NM_000249.4(MLH1):c.43G>C (p.Val15Leu)
|
rs876660301
|
|
|
NM_000249.4(MLH1):c.43G>T (p.Val15Leu)
|
rs876660301
|
|
|
NM_000249.4(MLH1):c.440G>C (p.Gly147Ala)
|
rs1060500702
|
|
|
NM_000249.4(MLH1):c.440G>T (p.Gly147Val)
|
rs1060500702
|
|
|
NM_000249.4(MLH1):c.447G>C (p.Gln149His)
|
rs63750638
|
|
|
NM_000249.4(MLH1):c.447G>T (p.Gln149His)
|
|
|
|
NM_000249.4(MLH1):c.449T>A (p.Ile150Asn)
|
rs786202495
|
|
|
NM_000249.4(MLH1):c.44T>G (p.Val15Gly)
|
|
|
|
NM_000249.4(MLH1):c.453+4A>C
|
|
|
|
NM_000249.4(MLH1):c.453+4del
|
rs2125773670
|
|
|
NM_000249.4(MLH1):c.453+6A>C
|
rs2081932913
|
|
|
NM_000249.4(MLH1):c.453G>T (p.Thr151=)
|
rs369521379
|
|
|
NM_000249.4(MLH1):c.454-10T>A
|
rs1260098414
|
|
|
NM_000249.4(MLH1):c.454-17A>G
|
|
|
|
NM_000249.4(MLH1):c.454-3C>G
|
rs2082047640
|
|
|
NM_000249.4(MLH1):c.454-3del
|
rs1224826378
|
|
|
NM_000249.4(MLH1):c.455T>G (p.Val152Gly)
|
rs1559523949
|
|
|
NM_000249.4(MLH1):c.460G>A (p.Asp154Asn)
|
rs2082049200
|
|
|
NM_000249.4(MLH1):c.462C>A (p.Asp154Glu)
|
rs192938577
|
|
|
NM_000249.4(MLH1):c.462C>G (p.Asp154Glu)
|
rs192938577
|
|
|
NM_000249.4(MLH1):c.463C>G (p.Leu155Val)
|
rs749370894
|
|
|
NM_000249.4(MLH1):c.463C>T (p.Leu155Phe)
|
rs749370894
|
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
|
NM_000249.4(MLH1):c.467T>C (p.Phe156Ser)
|
|
|
|
NM_000249.4(MLH1):c.468T>A (p.Phe156Leu)
|
rs1575448523
|
|
|
NM_000249.4(MLH1):c.469T>C (p.Tyr157His)
|
rs2125783672
|
|
|
NM_000249.4(MLH1):c.46G>A (p.Val16Met)
|
rs776643257
|
|
|
NM_000249.4(MLH1):c.46G>C (p.Val16Leu)
|
rs776643257
|
|
|
NM_000249.4(MLH1):c.472A>C (p.Asn158His)
|
rs63751242
|
|
|
NM_000249.4(MLH1):c.473A>G (p.Asn158Ser)
|
|
|
|
NM_000249.4(MLH1):c.475A>G (p.Ile159Val)
|
rs370900909
|
|
|
NM_000249.4(MLH1):c.478G>T (p.Ala160Ser)
|
rs876659332
|
|
|
NM_000249.4(MLH1):c.479C>G (p.Ala160Gly)
|
rs63749924
|
|
|
NM_000249.4(MLH1):c.47T>G (p.Val16Gly)
|
rs1553637237
|
|
|
NM_000249.4(MLH1):c.481A>G (p.Thr161Ala)
|
rs1575448656
|
|
|
NM_000249.4(MLH1):c.483GAG[1] (p.Arg163del)
|
rs587781788
|
|
|
NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)
|
|
|
|
NM_000249.4(MLH1):c.487A>G (p.Arg163Gly)
|
rs748500860
|
|
|
NM_000249.4(MLH1):c.494C>T (p.Ala165Val)
|
rs2082054666
|
|
|
NM_000249.4(MLH1):c.497T>C (p.Leu166Ser)
|
rs267607755
|
|
|
NM_000249.4(MLH1):c.500A>G (p.Lys167Arg)
|
rs1575448893
|
|
|
NM_000249.4(MLH1):c.503A>T (p.Asn168Ile)
|
rs1553642727
|
|
|
NM_000249.4(MLH1):c.506C>A (p.Pro169Gln)
|
rs63750834
|
|
|
NM_000249.4(MLH1):c.506C>G (p.Pro169Arg)
|
rs63750834
|
|
|
NM_000249.4(MLH1):c.508A>G (p.Ser170Gly)
|
rs1287294691
|
|
|
NM_000249.4(MLH1):c.509G>A (p.Ser170Asn)
|
rs1064793652
|
|
|
NM_000249.4(MLH1):c.509G>C (p.Ser170Thr)
|
rs1064793652
|
|
|
NM_000249.4(MLH1):c.50A>G (p.Asn17Ser)
|
rs1403203490
|
|
|
NM_000249.4(MLH1):c.511G>A (p.Glu171Lys)
|
|
|
|
NM_000249.4(MLH1):c.513A>C (p.Glu171Asp)
|
rs779148982
|
|
|
NM_000249.4(MLH1):c.515_520del (p.Glu172_Tyr173del)
|
rs1575449031
|
|
|
NM_000249.4(MLH1):c.517T>C (p.Tyr173His)
|
rs2125784498
|
|
|
NM_000249.4(MLH1):c.51C>A (p.Asn17Lys)
|
|
|
|
NM_000249.4(MLH1):c.520G>T (p.Gly174Trp)
|
rs1391774700
|
|
|
NM_000249.4(MLH1):c.523A>G (p.Lys175Glu)
|
|
|
|
NM_000249.4(MLH1):c.524A>T (p.Lys175Ile)
|
rs1553642756
|
|
|
NM_000249.4(MLH1):c.526A>T (p.Ile176Phe)
|
rs1553642761
|
|
|
NM_000249.4(MLH1):c.52C>G (p.Arg18Gly)
|
rs367654552
|
|
|
NM_000249.4(MLH1):c.531G>T (p.Leu177Phe)
|
rs1386646525
|
|
|
NM_000249.4(MLH1):c.532G>A (p.Glu178Lys)
|
rs1248251121
|
|
|
NM_000249.4(MLH1):c.538G>C (p.Val180Leu)
|
|
|
|
NM_000249.4(MLH1):c.538G>T (p.Val180Phe)
|
rs1559524603
|
|
|
NM_000249.4(MLH1):c.539T>C (p.Val180Ala)
|
rs63750102
|
|
|
NM_000249.4(MLH1):c.53G>A (p.Arg18His)
|
rs1553637254
|
|
|
NM_000249.4(MLH1):c.542G>A (p.Gly181Asp)
|
rs2082061484
|
|
|
NM_000249.4(MLH1):c.545+4C>A
|
rs755275241
|
|
|
NM_000249.4(MLH1):c.545+4C>G
|
rs755275241
|
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
|
NM_000249.4(MLH1):c.545+5A>G
|
rs1553642796
|
|
|
NM_000249.4(MLH1):c.545+6G>T
|
rs1249025957
|
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
|
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)
|
rs587779021
|
|
|
NM_000249.4(MLH1):c.546-16T>A
|
rs2125805002
|
|
|
NM_000249.4(MLH1):c.546-5del
|
rs1553643965
|
|
|
NM_000249.4(MLH1):c.546G>C (p.Arg182Ser)
|
rs2125805259
|
|
|
NM_000249.4(MLH1):c.547T>C (p.Tyr183His)
|
|
|
|
NM_000249.4(MLH1):c.548A>G (p.Tyr183Cys)
|
rs1553643970
|
|
|
NM_000249.4(MLH1):c.551C>T (p.Ser184Leu)
|
rs1064796057
|
|
|
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)
|
rs63750012
|
|
|
NM_000249.4(MLH1):c.554T>C (p.Val185Ala)
|
rs63750515
|
|
|
NM_000249.4(MLH1):c.556C>A (p.His186Asn)
|
rs1559529806
|
|
|
NM_000249.4(MLH1):c.556C>T (p.His186Tyr)
|
rs1559529806
|
|
|
NM_000249.4(MLH1):c.557A>C (p.His186Pro)
|
rs1060500712
|
|
|
NM_000249.4(MLH1):c.557A>G (p.His186Arg)
|
rs1060500712
|
|
|
NM_000249.4(MLH1):c.558C>G (p.His186Gln)
|
|
|
|
NM_000249.4(MLH1):c.559A>G (p.Asn187Asp)
|
rs2082327356
|
|
|
NM_000249.4(MLH1):c.55A>C (p.Ile19Leu)
|
rs63750648
|
|
|
NM_000249.4(MLH1):c.560A>G (p.Asn187Ser)
|
rs1553643993
|
|
|
NM_000249.4(MLH1):c.562G>A (p.Ala188Thr)
|
|
|
|
NM_000249.4(MLH1):c.565G>C (p.Gly189Arg)
|
|
|
|
NM_000249.4(MLH1):c.566G>A (p.Gly189Asp)
|
|
|
|
NM_000249.4(MLH1):c.566G>C (p.Gly189Ala)
|
rs1553644020
|
|
|
NM_000249.4(MLH1):c.569_571del (p.Ile190del)
|
rs2082328702
|
|
|
NM_000249.4(MLH1):c.573T>G (p.Ser191Arg)
|
|
|
|
NM_000249.4(MLH1):c.578C>T (p.Ser193Leu)
|
rs63751480
|
|
|
NM_000249.4(MLH1):c.580G>A (p.Val194Ile)
|
rs1485929020
|
|
|
NM_000249.4(MLH1):c.583A>G (p.Lys195Glu)
|
rs863225383
|
|
|
NM_000249.4(MLH1):c.584A>G (p.Lys195Arg)
|
|
|
|
NM_000249.4(MLH1):c.588+4A>G
|
|
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
|
NM_000249.4(MLH1):c.588+9_588+10insLINE1
|
|
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
|
NM_000249.4(MLH1):c.58G>C (p.Ala20Pro)
|
rs1553637262
|
|
|
NM_000249.4(MLH1):c.591A>G (p.Gln197=)
|
rs876659294
|
|
|
NM_000249.4(MLH1):c.591A>T (p.Gln197His)
|
|
|
|
NM_000249.4(MLH1):c.595G>A (p.Glu199Lys)
|
|
|
|
NM_000249.4(MLH1):c.598A>C (p.Thr200Pro)
|
|
|
|
NM_000249.4(MLH1):c.598A>G (p.Thr200Ala)
|
rs2082345042
|
|
|
NM_000249.4(MLH1):c.59C>T (p.Ala20Val)
|
rs1391455682
|
|
|
NM_000249.4(MLH1):c.5_7del (p.Ser2del)
|
rs1559499994
|
|
|
NM_000249.4(MLH1):c.602T>C (p.Val201Ala)
|
rs876659274
|
|
|
NM_000249.4(MLH1):c.607G>C (p.Asp203His)
|
rs63750085
|
|
|
NM_000249.4(MLH1):c.607G>T (p.Asp203Tyr)
|
rs63750085
|
|
|
NM_000249.4(MLH1):c.608A>T (p.Asp203Val)
|
rs749037674
|
|
|
NM_000249.4(MLH1):c.60G>A (p.Ala20=)
|
rs2080897097
|
|
|
NM_000249.4(MLH1):c.614G>A (p.Arg205Lys)
|
|
|
|
NM_000249.4(MLH1):c.614G>C (p.Arg205Thr)
|
rs1559530587
|
|
|
NM_000249.4(MLH1):c.614G>T (p.Arg205Met)
|
rs1559530587
|
|
|
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile)
|
rs2082346831
|
|
|
NM_000249.4(MLH1):c.61G>T (p.Ala21Ser)
|
rs2080897397
|
|
|
NM_000249.4(MLH1):c.620T>C (p.Leu207Pro)
|
rs2125808605
|
|
|
NM_000249.4(MLH1):c.623C>A (p.Pro208His)
|
|
|
|
NM_000249.4(MLH1):c.623C>T (p.Pro208Leu)
|
rs876659114
|
|
|
NM_000249.4(MLH1):c.625A>G (p.Asn209Asp)
|
|
|
|
NM_000249.4(MLH1):c.626A>C (p.Asn209Thr)
|
rs150478207
|
|
|
NM_000249.4(MLH1):c.628G>C (p.Ala210Pro)
|
rs1559530676
|
|
|
NM_000249.4(MLH1):c.629C>A (p.Ala210Asp)
|
rs2125808775
|
|
|
NM_000249.4(MLH1):c.632C>T (p.Ser211Leu)
|
rs2082348062
|
|
|
NM_000249.4(MLH1):c.635C>T (p.Thr212Ile)
|
|
|
|
NM_000249.4(MLH1):c.637G>C (p.Val213Leu)
|
rs2308317
|
|
|
NM_000249.4(MLH1):c.637G>T (p.Val213Leu)
|
rs2308317
|
|
|
NM_000249.4(MLH1):c.643A>G (p.Asn215Asp)
|
rs2125809069
|
|
|
NM_000249.4(MLH1):c.644A>C (p.Asn215Thr)
|
rs267607775
|
|
|
NM_000249.4(MLH1):c.646A>G (p.Ile216Val)
|
rs1575469180
|
|
|
NM_000249.4(MLH1):c.647T>C (p.Ile216Thr)
|
|
|
|
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)
|
rs4986984
|
|
|
NM_000249.4(MLH1):c.64G>C (p.Gly22Arg)
|
|
|
|
NM_000249.4(MLH1):c.653C>G (p.Ser218Cys)
|
rs2082350729
|
|
|
NM_000249.4(MLH1):c.653C>T (p.Ser218Phe)
|
rs2082350729
|
|
|
NM_000249.4(MLH1):c.656T>C (p.Ile219Thr)
|
rs1553644227
|
|
|
NM_000249.4(MLH1):c.657_662del (p.Phe220_Gly221del)
|
rs2082351590
|
|
|
NM_000249.4(MLH1):c.65G>A (p.Gly22Glu)
|
|
|
|
NM_000249.4(MLH1):c.65G>T (p.Gly22Val)
|
rs41295280
|
|
|
NM_000249.4(MLH1):c.662G>A (p.Gly221Glu)
|
|
|
|
NM_000249.4(MLH1):c.668C>G (p.Ala223Gly)
|
rs756045117
|
|
|
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)
|
rs1553644251
|
|
|
NM_000249.4(MLH1):c.670G>C (p.Val224Leu)
|
rs1553644251
|
|
|
NM_000249.4(MLH1):c.673A>G (p.Ser225Gly)
|
rs587781926
|
|
|
NM_000249.4(MLH1):c.675T>G (p.Ser225Arg)
|
|
|
|
NM_000249.4(MLH1):c.676C>A (p.Arg226=)
|
rs63751615
|
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
|
NM_000249.4(MLH1):c.677+3_677+12dup
|
|
|
|
NM_000249.4(MLH1):c.677+6T>C
|
|
|
|
NM_000249.4(MLH1):c.678-10_678-6del
|
rs1060500700
|
|
|
NM_000249.4(MLH1):c.678-13del
|
rs1553645092
|
|
|
NM_000249.4(MLH1):c.678-234_678-233insAGTG
|
|
|
|
NM_000249.4(MLH1):c.678-3T>C
|
rs267607785
|
|
|
NM_000249.4(MLH1):c.678-409A>G
|
|
|
|
NM_000249.4(MLH1):c.678-7C>A
|
|
|
|
NM_000249.4(MLH1):c.678-9_678-8del
|
rs1559534072
|
|
|
NM_000249.4(MLH1):c.678A>T (p.Arg226=)
|
rs786203360
|
|
|
NM_000249.4(MLH1):c.67G>A (p.Glu23Lys)
|
rs63750823
|
|
|
NM_000249.4(MLH1):c.680A>T (p.Glu227Val)
|
|
|
|
NM_000249.4(MLH1):c.683T>G (p.Leu228Arg)
|
rs2125821739
|
|
|
NM_000249.4(MLH1):c.685A>C (p.Ile229Leu)
|
|
|
|
NM_000249.4(MLH1):c.685A>G (p.Ile229Val)
|
|
|
|
NM_000249.4(MLH1):c.686T>C (p.Ile229Thr)
|
rs1559534151
|
|
|
NM_000249.4(MLH1):c.689A>G (p.Glu230Gly)
|
rs2082522661
|
|
|
NM_000249.4(MLH1):c.68A>G (p.Glu23Gly)
|
rs750969880
|
|
|
NM_000249.4(MLH1):c.691A>G (p.Ile231Val)
|
|
|
|
NM_000249.4(MLH1):c.691A>T (p.Ile231Phe)
|
|
|
|
NM_000249.4(MLH1):c.692T>C (p.Ile231Thr)
|
|
|
|
NM_000249.4(MLH1):c.693T>G (p.Ile231Met)
|
|
|
|
NM_000249.4(MLH1):c.695G>A (p.Gly232Glu)
|
rs149302013
|
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
|
NM_000249.4(MLH1):c.697T>A (p.Cys233Ser)
|
rs63751170
|
|
|
NM_000249.4(MLH1):c.697T>C (p.Cys233Arg)
|
|
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
|
NM_000249.4(MLH1):c.700G>A (p.Glu234Lys)
|
rs876659468
|
|
|
NM_000249.4(MLH1):c.700_701delinsTT (p.Glu234Leu)
|
rs730881732
|
|
|
NM_000249.4(MLH1):c.701A>C (p.Glu234Ala)
|
rs63750696
|
|
|
NM_000249.4(MLH1):c.703G>A (p.Asp235Asn)
|
|
|
|
NM_000249.4(MLH1):c.704A>G (p.Asp235Gly)
|
|
|
|
NM_000249.4(MLH1):c.705T>G (p.Asp235Glu)
|
|
|
|
NM_000249.4(MLH1):c.706A>G (p.Lys236Glu)
|
rs1553645179
|
|
|
NM_000249.4(MLH1):c.708A>T (p.Lys236Asn)
|
|
|
|
NM_000249.4(MLH1):c.709A>C (p.Thr237Pro)
|
|
|
|
NM_000249.4(MLH1):c.70G>A (p.Val24Ile)
|
rs1348994712
|
|
|
NM_000249.4(MLH1):c.70G>T (p.Val24Phe)
|
rs1348994712
|
|
|
NM_000249.4(MLH1):c.710C>T (p.Thr237Ile)
|
rs771606168
|
|
|
NM_000249.4(MLH1):c.713T>G (p.Leu238Arg)
|
rs2125822150
|
|
|
NM_000249.4(MLH1):c.71T>C (p.Val24Ala)
|
rs754533438
|
|
|
NM_000249.4(MLH1):c.722A>C (p.Lys241Thr)
|
rs778528329
|
|
|
NM_000249.4(MLH1):c.722A>G (p.Lys241Arg)
|
rs778528329
|
|
|
NM_000249.4(MLH1):c.726G>A (p.Met242Ile)
|
rs1559534445
|
|
|
NM_000249.4(MLH1):c.728A>G (p.Asn243Ser)
|
rs1199917094
|
|
|
NM_000249.4(MLH1):c.728A>T (p.Asn243Ile)
|
|
|
|
NM_000249.4(MLH1):c.730G>A (p.Gly244Ser)
|
rs2082528605
|
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
|
NM_000249.4(MLH1):c.736A>T (p.Ile246Leu)
|
rs750253749
|
|
|
NM_000249.4(MLH1):c.737T>C (p.Ile246Thr)
|
|
|
|
NM_000249.4(MLH1):c.73A>G (p.Ile25Val)
|
rs63749838
|
|
|
NM_000249.4(MLH1):c.740C>A (p.Ser247Tyr)
|
rs2125822516
|
|
|
NM_000249.4(MLH1):c.740C>G (p.Ser247Cys)
|
|
|
|
NM_000249.4(MLH1):c.742A>G (p.Asn248Asp)
|
rs2082530238
|
|
|
NM_000249.4(MLH1):c.745G>C (p.Ala249Pro)
|
rs876658137
|
|
|
NM_000249.4(MLH1):c.748A>C (p.Asn250His)
|
rs786203107
|
|
|
NM_000249.4(MLH1):c.748A>G (p.Asn250Asp)
|
rs786203107
|
|
|
NM_000249.4(MLH1):c.74T>C (p.Ile25Thr)
|
rs63750514
|
|
|
NM_000249.4(MLH1):c.74T>G (p.Ile25Ser)
|
|
|
|
NM_000249.4(MLH1):c.751T>C (p.Tyr251His)
|
|
|
|
NM_000249.4(MLH1):c.752A>G (p.Tyr251Cys)
|
rs876660220
|
|
|
NM_000249.4(MLH1):c.755C>T (p.Ser252Leu)
|
rs63750198
|
|
|
NM_000249.4(MLH1):c.758T>C (p.Val253Ala)
|
rs2125822888
|
|
|
NM_000249.4(MLH1):c.760A>C (p.Lys254Gln)
|
rs1575481094
|
|
|
NM_000249.4(MLH1):c.761A>G (p.Lys254Arg)
|
rs786202528
|
|
|
NM_000249.4(MLH1):c.762G>T (p.Lys254Asn)
|
rs863224341
|
|
|
NM_000249.4(MLH1):c.763A>C (p.Lys255Gln)
|
rs1559534696
|
|
|
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr)
|
rs876659662
|
|
|
NM_000249.4(MLH1):c.767G>T (p.Cys256Phe)
|
rs876659662
|
|
|
NM_000249.4(MLH1):c.769A>G (p.Ile257Val)
|
rs876660094
|
|
|
NM_000249.4(MLH1):c.76C>A (p.Gln26Lys)
|
|
|
|
NM_000249.4(MLH1):c.771C>G (p.Ile257Met)
|
rs1466012753
|
|
|
NM_000249.4(MLH1):c.772T>C (p.Phe258Leu)
|
rs2125823165
|
|
|
NM_000249.4(MLH1):c.774C>A (p.Phe258Leu)
|
|
|
|
NM_000249.4(MLH1):c.777A>C (p.Leu259Phe)
|
rs1575481336
|
|
|
NM_000249.4(MLH1):c.779T>A (p.Leu260His)
|
rs63751283
|
|
|
NM_000249.4(MLH1):c.77A>C (p.Gln26Pro)
|
rs1553637312
|
|
|
NM_000249.4(MLH1):c.77A>G (p.Gln26Arg)
|
rs1553637312
|
|
|
NM_000249.4(MLH1):c.781T>A (p.Phe261Ile)
|
|
|
|
NM_000249.4(MLH1):c.783C>G (p.Phe261Leu)
|
rs768119795
|
|
|
NM_000249.4(MLH1):c.784A>G (p.Ile262Val)
|
rs1553645342
|
|
|
NM_000249.4(MLH1):c.789C>T (p.Asn263=)
|
|
|
|
NM_000249.4(MLH1):c.78G>C (p.Gln26His)
|
rs2080901714
|
|
|
NM_000249.4(MLH1):c.790+4A>T
|
rs267607786
|
|
|
NM_000249.4(MLH1):c.790C>G (p.His264Asp)
|
rs63751597
|
|
|
NM_000249.4(MLH1):c.791-3T>C
|
rs999701374
|
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.794G>T (p.Arg265Leu)
|
|
|
|
NM_000249.4(MLH1):c.79C>G (p.Arg27Gly)
|
rs756398627
|
|
|
NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)
|
rs878853790
|
|
|
NM_000249.4(MLH1):c.802G>A (p.Glu268Lys)
|
|
|
|
NM_000249.4(MLH1):c.802G>C (p.Glu268Gln)
|
rs748423430
|
|
|
NM_000249.4(MLH1):c.805T>C (p.Ser269Pro)
|
rs786203623
|
|
|
NM_000249.4(MLH1):c.809C>A (p.Thr270Asn)
|
|
|
|
NM_000249.4(MLH1):c.809C>G (p.Thr270Ser)
|
|
|
|
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)
|
rs138705565
|
|
|
NM_000249.4(MLH1):c.812C>G (p.Ser271Cys)
|
|
|
|
NM_000249.4(MLH1):c.812C>T (p.Ser271Phe)
|
rs2125837002
|
|
|
NM_000249.4(MLH1):c.814T>G (p.Leu272Val)
|
rs63751252
|
|
|
NM_000249.4(MLH1):c.81G>A (p.Arg27=)
|
rs878853791
|
|
|
NM_000249.4(MLH1):c.824C>T (p.Ala275Val)
|
|
|
|
NM_000249.4(MLH1):c.827T>C (p.Ile276Thr)
|
rs1253275403
|
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
|
NM_000249.4(MLH1):c.833C>T (p.Thr278Ile)
|
rs2125837419
|
|
|
NM_000249.4(MLH1):c.835G>C (p.Val279Leu)
|
rs1559539382
|
|
|
NM_000249.4(MLH1):c.836T>C (p.Val279Ala)
|
rs1553646683
|
|
|
NM_000249.4(MLH1):c.836T>G (p.Val279Gly)
|
rs1553646683
|
|
|
NM_000249.4(MLH1):c.838T>C (p.Tyr280His)
|
rs587779044
|
|
|
NM_000249.4(MLH1):c.839A>T (p.Tyr280Phe)
|
rs1575495337
|
|
|
NM_000249.4(MLH1):c.840T>C (p.Tyr280=)
|
rs63750938
|
|
|
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)
|
rs774689817
|
|
|
NM_000249.4(MLH1):c.845C>A (p.Ala282Asp)
|
rs63750360
|
|
|
NM_000249.4(MLH1):c.847T>G (p.Tyr283Asp)
|
rs2082750776
|
|
|
NM_000249.4(MLH1):c.848A>C (p.Tyr283Ser)
|
rs201931669
|
|
|
NM_000249.4(MLH1):c.848A>T (p.Tyr283Phe)
|
rs201931669
|
|
|
NM_000249.4(MLH1):c.849T>C (p.Tyr283=)
|
|
|
|
NM_000249.4(MLH1):c.850T>G (p.Leu284Val)
|
rs1575495474
|
|
|
NM_000249.4(MLH1):c.852G>T (p.Leu284Phe)
|
rs2082751762
|
|
|
NM_000249.4(MLH1):c.853C>T (p.Pro285Ser)
|
rs772374195
|
|
|
NM_000249.4(MLH1):c.856A>C (p.Lys286Gln)
|
rs63750395
|
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
|
NM_000249.4(MLH1):c.860A>C (p.Asn287Thr)
|
|
|
|
NM_000249.4(MLH1):c.861C>G (p.Asn287Lys)
|
rs63750421
|
|
|
NM_000249.4(MLH1):c.862A>T (p.Thr288Ser)
|
|
|
|
NM_000249.4(MLH1):c.863C>G (p.Thr288Arg)
|
rs786203878
|
|
|
NM_000249.4(MLH1):c.864A>G (p.Thr288=)
|
rs1457205659
|
|
|
NM_000249.4(MLH1):c.865C>T (p.His289Tyr)
|
rs2082754902
|
|
|
NM_000249.4(MLH1):c.866A>G (p.His289Arg)
|
rs2125838100
|
|
|
NM_000249.4(MLH1):c.867C>A (p.His289Gln)
|
rs1559539682
|
|
|
NM_000249.4(MLH1):c.868C>G (p.Pro290Ala)
|
rs1553646744
|
|
|
NM_000249.4(MLH1):c.868C>T (p.Pro290Ser)
|
rs1553646744
|
|
|
NM_000249.4(MLH1):c.86C>A (p.Ala29Asp)
|
rs63750216
|
|
|
NM_000249.4(MLH1):c.871T>C (p.Phe291Leu)
|
rs1575495847
|
|
|
NM_000249.4(MLH1):c.882C>G (p.Leu294=)
|
rs63751707
|
|
|
NM_000249.4(MLH1):c.884+5T>C
|
rs1363855014
|
|
|
NM_000249.4(MLH1):c.884+6G>A
|
rs1575496158
|
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
|
NM_000249.4(MLH1):c.885-19_885-18delinsCT
|
rs1064795385
|
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
|
NM_000249.4(MLH1):c.885-6T>A
|
|
|
|
NM_000249.4(MLH1):c.892A>C (p.Ile298Leu)
|
|
|
|
NM_000249.4(MLH1):c.893T>C (p.Ile298Thr)
|
rs2082965349
|
|
|
NM_000249.4(MLH1):c.894C>G (p.Ile298Met)
|
rs1256712065
|
|
|
NM_000249.4(MLH1):c.895A>T (p.Ser299Cys)
|
rs876658827
|
|
|
NM_000249.4(MLH1):c.896G>A (p.Ser299Asn)
|
rs1553647926
|
|
|
NM_000249.4(MLH1):c.897T>G (p.Ser299Arg)
|
rs767068637
|
|
|
NM_000249.4(MLH1):c.899C>T (p.Pro300Leu)
|
|
|
|
NM_000249.4(MLH1):c.89A>G (p.Asn30Ser)
|
rs2080903905
|
|
|
NM_000249.4(MLH1):c.89A>T (p.Asn30Ile)
|
rs2080903905
|
|
|
NM_000249.4(MLH1):c.901C>G (p.Gln301Glu)
|
rs63750489
|
|
|
NM_000249.4(MLH1):c.905A>C (p.Asn302Thr)
|
rs2125852285
|
|
|
NM_000249.4(MLH1):c.907G>C (p.Val303Leu)
|
rs1553647950
|
|
|
NM_000249.4(MLH1):c.908T>G (p.Val303Gly)
|
rs267607813
|
|
|
NM_000249.4(MLH1):c.90T>A (p.Asn30Lys)
|
rs863224637
|
|
|
NM_000249.4(MLH1):c.90T>G (p.Asn30Lys)
|
rs863224637
|
|
|
NM_000249.4(MLH1):c.910G>A (p.Asp304Asn)
|
|
|
|
NM_000249.4(MLH1):c.911A>C (p.Asp304Ala)
|
rs63750993
|
|
|
NM_000249.4(MLH1):c.917A>T (p.Asn306Ile)
|
rs755553895
|
|
|
NM_000249.4(MLH1):c.919G>A (p.Val307Met)
|
rs786202196
|
|
|
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)
|
rs749671520
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000249.4(MLH1):c.920T>C (p.Val307Ala)
|
rs863224638
|
|
|
NM_000249.4(MLH1):c.922C>T (p.His308Tyr)
|
|
|
|
NM_000249.4(MLH1):c.923A>G (p.His308Arg)
|
|
|
|
NM_000249.4(MLH1):c.925C>G (p.Pro309Ala)
|
|
|
|
NM_000249.4(MLH1):c.929C>A (p.Thr310Lys)
|
rs746206527
|
|
|
NM_000249.4(MLH1):c.929C>G (p.Thr310Arg)
|
rs746206527
|
|
|
NM_000249.4(MLH1):c.92C>T (p.Ala31Val)
|
rs730882127
|
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
|
NM_000249.4(MLH1):c.933G>T (p.Lys311Asn)
|
rs876660775
|
|
|
NM_000249.4(MLH1):c.934C>T (p.His312Tyr)
|
rs2125852861
|
|
|
NM_000249.4(MLH1):c.935A>C (p.His312Pro)
|
rs1214358911
|
|
|
NM_000249.4(MLH1):c.936T>G (p.His312Gln)
|
rs2125852914
|
|
|
NM_000249.4(MLH1):c.940G>A (p.Val314Ile)
|
|
|
|
NM_000249.4(MLH1):c.941T>G (p.Val314Gly)
|
rs2082977512
|
|
|
NM_000249.4(MLH1):c.943C>G (p.His315Asp)
|
|
|
|
NM_000249.4(MLH1):c.944A>T (p.His315Leu)
|
|
|
|
NM_000249.4(MLH1):c.946T>C (p.Phe316Leu)
|
|
|
|
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
|
rs1575509703
|
|
|
NM_000249.4(MLH1):c.948C>G (p.Phe316Leu)
|
|
|
|
NM_000249.4(MLH1):c.953A>G (p.His318Arg)
|
rs1559543995
|
|
|
NM_000249.4(MLH1):c.954C>A (p.His318Gln)
|
rs146777069
|
|
|
NM_000249.4(MLH1):c.956A>C (p.Glu319Ala)
|
rs1553648037
|
|
|
NM_000249.4(MLH1):c.958G>A (p.Glu320Lys)
|
|
|
|
NM_000249.4(MLH1):c.958_959inv (p.Glu320Ser)
|
|
|
|
NM_000249.4(MLH1):c.95T>C (p.Ile32Thr)
|
|
|
|
NM_000249.4(MLH1):c.960G>C (p.Glu320Asp)
|
rs267607811
|
|
|
NM_000249.4(MLH1):c.961A>C (p.Ser321Arg)
|
rs2125853413
|
|
|
NM_000249.4(MLH1):c.962G>A (p.Ser321Asn)
|
rs63750286
|
|
|
NM_000249.4(MLH1):c.964A>C (p.Ile322Leu)
|
|
|
|
NM_000249.4(MLH1):c.965T>C (p.Ile322Thr)
|
rs1553648061
|
|
|
NM_000249.4(MLH1):c.96C>G (p.Ile32Met)
|
rs1553637356
|
|
|
NM_000249.4(MLH1):c.972_973delinsTT (p.Glu324_Arg325delinsAspTrp)
|
rs2082983732
|
|
|
NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)
|
|
|
|
NM_000249.4(MLH1):c.974G>C (p.Arg325Pro)
|
|
|
|
NM_000249.4(MLH1):c.976G>T (p.Val326Leu)
|
rs730881739
|
|
|
NM_000249.4(MLH1):c.977T>A (p.Val326Glu)
|
rs63751049
|
|
|
NM_000249.4(MLH1):c.97A>G (p.Lys33Glu)
|
rs878853795
|
|
|
NM_000249.4(MLH1):c.980A>C (p.Gln327Pro)
|
rs1444067163
|
|
|
NM_000249.4(MLH1):c.980A>G (p.Gln327Arg)
|
|
|
|
NM_000249.4(MLH1):c.983A>C (p.Gln328Pro)
|
rs2082986773
|
|
|
NM_000249.4(MLH1):c.984G>C (p.Gln328His)
|
rs1488438746
|
|
|
NM_000249.4(MLH1):c.985C>T (p.His329Tyr)
|
rs267607810
|
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
|
NM_000249.4(MLH1):c.986A>G (p.His329Arg)
|
rs63750710
|
|
|
NM_000249.4(MLH1):c.988A>G (p.Ile330Val)
|
rs878853796
|
|
|
NM_000249.4(MLH1):c.990C>G (p.Ile330Met)
|
|
|
|
NM_000249.4(MLH1):c.991G>C (p.Glu331Gln)
|
rs550914672
|
|
|
NM_000249.4(MLH1):c.996C>G (p.Ser332Arg)
|
rs775167683
|
|
|
NM_000249.4(MLH1):c.997A>G (p.Lys333Glu)
|
rs957510193
|
|
|
NM_000249.4(MLH1):c.999G>T (p.Lys333Asn)
|
|
|
|
NM_000251.2(MSH2):c.-125_1076+?dup1201
|
|
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
|
NM_000251.2(MSH2):c.-75delG
|
|
|
|
NM_000251.2(MSH2):c.-77G>A
|
rs1672218958
|
|
|
NM_000251.2(MSH2):c.-78T>C
|
rs876658616
|
|
|
NM_000251.2(MSH2):c.-79G>A
|
|
|
|
NM_000251.2(MSH2):c.-79G>C
|
|
|
|
NM_000251.2(MSH2):c.-81dup
|
rs587779187
|
|
|
NM_000251.2(MSH2):c.-82G>A
|
rs866991159
|
|
|
NM_000251.2(MSH2):c.212_214delGAG
|
rs775701983
|
|
|
NM_000251.3(MSH2):c.*2A>C
|
|
|
|
NM_000251.3(MSH2):c.*47G>A
|
rs1196239075
|
|
|
NM_000251.3(MSH2):c.*4del (p.Ter935=)
|
rs1558526293
|
|
|
NM_000251.3(MSH2):c.*52A>T
|
rs886056138
|
|
|
NM_000251.3(MSH2):c.*64T>C
|
rs1278729941
|
|
|
NM_000251.3(MSH2):c.*7C>G
|
rs886056137
|
|
|
NM_000251.3(MSH2):c.-10A>C
|
rs765201464
|
|
|
NM_000251.3(MSH2):c.-11G>A
|
rs1057524512
|
|
|
NM_000251.3(MSH2):c.-11G>C
|
rs1057524512
|
|
|
NM_000251.3(MSH2):c.-12G>A
|
rs1558450937
|
|
|
NM_000251.3(MSH2):c.-13A>T
|
rs1057524722
|
|
|
NM_000251.3(MSH2):c.-13AGG[1]
|
rs1064795833
|
|
|
NM_000251.3(MSH2):c.-14G>A
|
rs1064793750
|
|
|
NM_000251.3(MSH2):c.-14G>C
|
rs1064793750
|
|
|
NM_000251.3(MSH2):c.-15T>C
|
|
|
|
NM_000251.3(MSH2):c.-16G>C
|
|
|
|
NM_000251.3(MSH2):c.-16G>T
|
rs1573422299
|
|
|
NM_000251.3(MSH2):c.-17G>A
|
rs1159862019
|
|
|
NM_000251.3(MSH2):c.-17G>C
|
rs1159862019
|
|
|
NM_000251.3(MSH2):c.-18A>C
|
rs759730085
|
|
|
NM_000251.3(MSH2):c.-18A>G
|
rs759730085
|
|
|
NM_000251.3(MSH2):c.-19G>A
|
|
|
|
NM_000251.3(MSH2):c.-19G>C
|
|
|
|
NM_000251.3(MSH2):c.-19G>T
|
|
|
|
NM_000251.3(MSH2):c.-1C>G
|
rs876658229
|
|
|
NM_000251.3(MSH2):c.-1C>T
|
rs876658229
|
|
|
NM_000251.3(MSH2):c.-20G>C
|
rs1672225649
|
|
|
NM_000251.3(MSH2):c.-21A>C
|
|
|
|
NM_000251.3(MSH2):c.-21A>T
|
rs776559145
|
|
|
NM_000251.3(MSH2):c.-22C>G
|
rs770870694
|
|
|
NM_000251.3(MSH2):c.-23C>A
|
|
|
|
NM_000251.3(MSH2):c.-23C>T
|
rs368949534
|
|
|
NM_000251.3(MSH2):c.-24A>G
|
|
|
|
NM_000251.3(MSH2):c.-25A>C
|
rs1672223820
|
|
|
NM_000251.3(MSH2):c.-26C>A
|
|
|
|
NM_000251.3(MSH2):c.-26C>T
|
|
|
|
NM_000251.3(MSH2):c.-27T>C
|
rs2103863683
|
|
|
NM_000251.3(MSH2):c.-27T>G
|
rs2103863683
|
|
|
NM_000251.3(MSH2):c.-29C>G
|
rs199841800
|
|
|
NM_000251.3(MSH2):c.-30T>A
|
|
|
|
NM_000251.3(MSH2):c.-4C>A
|
|
|
|
NM_000251.3(MSH2):c.-5T>G
|
rs1553348652
|
|
|
NM_000251.3(MSH2):c.-6T>A
|
|
|
|
NM_000251.3(MSH2):c.-6T>G
|
|
|
|
NM_000251.3(MSH2):c.-7T>A
|
rs1216867699
|
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
|
NM_000251.3(MSH2):c.1000A>C (p.Lys334Gln)
|
|
|
|
NM_000251.3(MSH2):c.1002A>C (p.Lys334Asn)
|
rs1673075031
|
|
|
NM_000251.3(MSH2):c.1004C>T (p.Thr335Ile)
|
rs63750602
|
|
|
NM_000251.3(MSH2):c.1006C>A (p.Pro336Thr)
|
rs63751062
|
|
|
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser)
|
rs63751062
|
|
|
NM_000251.3(MSH2):c.1007C>T (p.Pro336Leu)
|
rs2104248099
|
|
|
NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)
|
rs63750778
|
|
|
NM_000251.3(MSH2):c.1010A>G (p.Gln337Arg)
|
rs1553353190
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
|
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)
|
rs587779065
|
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
|
NM_000251.3(MSH2):c.1014A>T (p.Gly338=)
|
rs774083607
|
|
|
NM_000251.3(MSH2):c.1016A>C (p.Gln339Pro)
|
rs1060502006
|
|
|
NM_000251.3(MSH2):c.1016A>G (p.Gln339Arg)
|
|
|
|
NM_000251.3(MSH2):c.1018A>G (p.Arg340Gly)
|
rs1553353205
|
|
|
NM_000251.3(MSH2):c.1019G>C (p.Arg340Thr)
|
rs1673077413
|
|
|
NM_000251.3(MSH2):c.101T>G (p.Val34Gly)
|
|
|
|
NM_000251.3(MSH2):c.1020A>T (p.Arg340Ser)
|
rs1318583767
|
|
|
NM_000251.3(MSH2):c.1022T>G (p.Leu341Arg)
|
rs63751147
|
|
|
NM_000251.3(MSH2):c.1024G>A (p.Val342Ile)
|
rs63749879
|
|
|
NM_000251.3(MSH2):c.1024G>C (p.Val342Leu)
|
|
|
|
NM_000251.3(MSH2):c.1025T>C (p.Val342Ala)
|
|
|
|
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)
|
rs587779961
|
|
|
NM_000251.3(MSH2):c.1029C>A (p.Asn343Lys)
|
rs1060501995
|
|
|
NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys)
|
|
|
|
NM_000251.3(MSH2):c.1030C>A (p.Gln344Lys)
|
rs63750245
|
|
|
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)
|
rs1673078633
|
|
|
NM_000251.3(MSH2):c.1031A>G (p.Gln344Arg)
|
|
|
|
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly)
|
rs1558466616
|
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
|
NM_000251.3(MSH2):c.1034_1045del (p.Trp345_Pro349delinsSer)
|
rs1553353226
|
|
|
NM_000251.3(MSH2):c.1035G>C (p.Trp345Cys)
|
|
|
|
NM_000251.3(MSH2):c.1035G>T (p.Trp345Cys)
|
rs63750396
|
|
|
NM_000251.3(MSH2):c.1036A>G (p.Ile346Val)
|
rs1673079391
|
|
|
NM_000251.3(MSH2):c.1038_1049del (p.Lys347_Leu350del)
|
rs1673079599
|
|
|
NM_000251.3(MSH2):c.1041G>T (p.Lys347Asn)
|
rs1302487476
|
|
|
NM_000251.3(MSH2):c.1042C>G (p.Gln348Glu)
|
rs979212552
|
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
|
NM_000251.3(MSH2):c.1044G>C (p.Gln348His)
|
|
|
|
NM_000251.3(MSH2):c.1044G>T (p.Gln348His)
|
|
|
|
NM_000251.3(MSH2):c.1048C>G (p.Leu350Val)
|
rs771126636
|
|
|
NM_000251.3(MSH2):c.104G>A (p.Arg35His)
|
rs1060502012
|
|
|
NM_000251.3(MSH2):c.1052T>C (p.Met351Thr)
|
rs1553353246
|
|
|
NM_000251.3(MSH2):c.1052T>G (p.Met351Arg)
|
rs1553353246
|
|
|
NM_000251.3(MSH2):c.1053G>C (p.Met351Ile)
|
rs373122667
|
|
|
NM_000251.3(MSH2):c.1053G>T (p.Met351Ile)
|
rs373122667
|
|
|
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn)
|
rs1465121242
|
|
|
NM_000251.3(MSH2):c.1056T>A (p.Asp352Glu)
|
|
|
|
NM_000251.3(MSH2):c.1057A>C (p.Lys353Gln)
|
rs2104252491
|
|
|
NM_000251.3(MSH2):c.1059_1061del (p.Lys353del)
|
|
|
|
NM_000251.3(MSH2):c.1060A>C (p.Asn354His)
|
|
|
|
NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)
|
rs2104252754
|
|
|
NM_000251.3(MSH2):c.1063A>G (p.Arg355Gly)
|
|
|
|
NM_000251.3(MSH2):c.1064G>C (p.Arg355Thr)
|
|
|
|
NM_000251.3(MSH2):c.1066A>G (p.Ile356Val)
|
|
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
|
NM_000251.3(MSH2):c.1068A>G (p.Ile356Met)
|
rs2104253312
|
|
|
NM_000251.3(MSH2):c.1069G>A (p.Glu357Lys)
|
rs587779069
|
|
|
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)
|
rs587779069
|
|
|
NM_000251.3(MSH2):c.106C>G (p.Leu36Val)
|
rs1553348786
|
|
|
NM_000251.3(MSH2):c.1070A>T (p.Glu357Val)
|
rs150503781
|
|
|
NM_000251.3(MSH2):c.1071G>A (p.Glu357=)
|
rs587781617
|
|
|
NM_000251.3(MSH2):c.1071G>C (p.Glu357Asp)
|
rs587781617
|
|
|
NM_000251.3(MSH2):c.1073A>C (p.Glu358Ala)
|
rs587781775
|
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
|
NM_000251.3(MSH2):c.1076+4T>A
|
rs764606343
|
|
|
NM_000251.3(MSH2):c.1076+6T>C
|
rs2104254660
|
|
|
NM_000251.3(MSH2):c.1076+8A>T
|
rs1673084214
|
|
|
NM_000251.3(MSH2):c.1076G>A (p.Arg359Lys)
|
rs63751604
|
|
|
NM_000251.3(MSH2):c.1077-3C>A
|
rs758182607
|
|
|
NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)
|
rs587779072
|
|
|
NM_000251.3(MSH2):c.1084T>A (p.Leu362Ile)
|
|
|
|
NM_000251.3(MSH2):c.1085T>C (p.Leu362Ser)
|
rs1422479161
|
|
|
NM_000251.3(MSH2):c.1085_1086delinsAC (p.Leu362Tyr)
|
rs2104435645
|
|
|
NM_000251.3(MSH2):c.1087G>A (p.Val363Met)
|
rs377345366
|
|
|
NM_000251.3(MSH2):c.1087G>C (p.Val363Leu)
|
|
|
|
NM_000251.3(MSH2):c.1090G>A (p.Glu364Lys)
|
rs1558478136
|
|
|
NM_000251.3(MSH2):c.1092A>C (p.Glu364Asp)
|
rs1573484215
|
|
|
NM_000251.3(MSH2):c.1093G>A (p.Ala365Thr)
|
|
|
|
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp)
|
rs1242235025
|
|
|
NM_000251.3(MSH2):c.1094C>G (p.Ala365Gly)
|
rs1242235025
|
|
|
NM_000251.3(MSH2):c.1094C>T (p.Ala365Val)
|
rs1242235025
|
|
|
NM_000251.3(MSH2):c.1096T>C (p.Phe366Leu)
|
rs2104436120
|
|
|
NM_000251.3(MSH2):c.1096T>G (p.Phe366Val)
|
|
|
|
NM_000251.3(MSH2):c.1097T>C (p.Phe366Ser)
|
rs1673930437
|
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
|
NM_000251.3(MSH2):c.1102G>A (p.Glu368Lys)
|
rs1673931379
|
|
|
NM_000251.3(MSH2):c.1103A>G (p.Glu368Gly)
|
rs1553356552
|
|
|
NM_000251.3(MSH2):c.1103A>T (p.Glu368Val)
|
rs1553356552
|
|
|
NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)
|
rs1573484275
|
|
|
NM_000251.3(MSH2):c.1109C>G (p.Ala370Gly)
|
rs139652783
|
|
|
NM_000251.3(MSH2):c.1109C>T (p.Ala370Val)
|
|
|
|
NM_000251.3(MSH2):c.1111G>A (p.Glu371Lys)
|
rs1060501994
|
|
|
NM_000251.3(MSH2):c.1111G>C (p.Glu371Gln)
|
rs1060501994
|
|
|
NM_000251.3(MSH2):c.1115T>C (p.Leu372Ser)
|
rs1573484336
|
|
|
NM_000251.3(MSH2):c.1115T>G (p.Leu372Trp)
|
rs1573484336
|
|
|
NM_000251.3(MSH2):c.1116G>T (p.Leu372Phe)
|
rs1673933288
|
|
|
NM_000251.3(MSH2):c.1118G>A (p.Arg373Lys)
|
rs864622254
|
|
|
NM_000251.3(MSH2):c.1119G>T (p.Arg373Ser)
|
rs1553356567
|
|
|
NM_000251.3(MSH2):c.1121A>C (p.Gln374Pro)
|
rs749660228
|
|
|
NM_000251.3(MSH2):c.1122G>T (p.Gln374His)
|
rs370378607
|
|
|
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser)
|
rs774539871
|
|
|
NM_000251.3(MSH2):c.112G>C (p.Asp38His)
|
|
|
|
NM_000251.3(MSH2):c.112G>T (p.Asp38Tyr)
|
rs730881761
|
|
|
NM_000251.3(MSH2):c.1131AGA[1] (p.Glu378del)
|
rs1295803849
|
|
|
NM_000251.3(MSH2):c.1132G>A (p.Glu378Lys)
|
rs2104437809
|
|
|
NM_000251.3(MSH2):c.1134A>T (p.Glu378Asp)
|
rs1673935850
|
|
|
NM_000251.3(MSH2):c.1138T>G (p.Leu380Val)
|
rs1558478310
|
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
|
NM_000251.3(MSH2):c.1141C>G (p.Leu381Val)
|
rs1573484556
|
|
|
NM_000251.3(MSH2):c.1141C>T (p.Leu381Phe)
|
rs1573484556
|
|
|
NM_000251.3(MSH2):c.1143TCG[1] (p.Arg383del)
|
rs1573484581
|
|
|
NM_000251.3(MSH2):c.1144C>A (p.Arg382Ser)
|
rs752373431
|
|
|
NM_000251.3(MSH2):c.1144C>G (p.Arg382Gly)
|
|
|
|
NM_000251.3(MSH2):c.1145G>T (p.Arg382Leu)
|
rs267607947
|
|
|
NM_000251.3(MSH2):c.1147C>G (p.Arg383Gly)
|
|
|
|
NM_000251.3(MSH2):c.1148G>C (p.Arg383Pro)
|
rs376934727
|
|
|
NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)
|
rs587779074
|
|
|
NM_000251.3(MSH2):c.1150T>C (p.Phe384Leu)
|
|
|
|
NM_000251.3(MSH2):c.1153C>T (p.Pro385Ser)
|
rs763985746
|
|
|
NM_000251.3(MSH2):c.1156G>C (p.Asp386His)
|
|
|
|
NM_000251.3(MSH2):c.1159C>A (p.Leu387Ile)
|
|
|
|
NM_000251.3(MSH2):c.1159C>G (p.Leu387Val)
|
rs751249745
|
|
|
NM_000251.3(MSH2):c.115C>T (p.Arg39Trp)
|
rs786202334
|
|
|
NM_000251.3(MSH2):c.115_123del (p.Arg39_Asp41del)
|
rs863224831
|
|
|
NM_000251.3(MSH2):c.1160T>C (p.Leu387Pro)
|
|
|
|
NM_000251.3(MSH2):c.1160T>G (p.Leu387Arg)
|
rs63750485
|
|
|
NM_000251.3(MSH2):c.1160_1162dup (p.Leu387_Asn388insIle)
|
|
|
|
NM_000251.3(MSH2):c.1162A>C (p.Asn388His)
|
rs2104439250
|
|
|
NM_000251.3(MSH2):c.1163A>G (p.Asn388Ser)
|
|
|
|
NM_000251.3(MSH2):c.1166G>T (p.Arg389Leu)
|
rs757276241
|
|
|
NM_000251.3(MSH2):c.1168C>G (p.Leu390Val)
|
rs17224367
|
|
|
NM_000251.3(MSH2):c.116G>A (p.Arg39Gln)
|
rs587782759
|
|
|
NM_000251.3(MSH2):c.116G>T (p.Arg39Leu)
|
rs587782759
|
|
|
NM_000251.3(MSH2):c.1171G>C (p.Ala391Pro)
|
rs878853798
|
|
|
NM_000251.3(MSH2):c.1172C>T (p.Ala391Val)
|
rs864622674
|
|
|
NM_000251.3(MSH2):c.1174A>C (p.Lys392Gln)
|
rs1673940784
|
|
|
NM_000251.3(MSH2):c.1177A>C (p.Lys393Gln)
|
rs863225386
|
|
|
NM_000251.3(MSH2):c.1179G>C (p.Lys393Asn)
|
rs1553356646
|
|
|
NM_000251.3(MSH2):c.117_121del (p.Gly40fs)
|
|
|
|
NM_000251.3(MSH2):c.1183C>G (p.Gln395Glu)
|
rs63750302
|
|
|
NM_000251.3(MSH2):c.1184A>T (p.Gln395Leu)
|
|
|
|
NM_000251.3(MSH2):c.1185A>C (p.Gln395His)
|
rs1032873228
|
|
|
NM_000251.3(MSH2):c.1186A>G (p.Arg396Gly)
|
|
|
|
NM_000251.3(MSH2):c.1190A>G (p.Gln397Arg)
|
rs1553356658
|
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
|
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)
|
rs988252817
|
|
|
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)
|
rs1060502019
|
|
|
NM_000251.3(MSH2):c.1195G>A (p.Ala399Thr)
|
rs1673943931
|
|
|
NM_000251.3(MSH2):c.1196C>A (p.Ala399Glu)
|
|
|
|
NM_000251.3(MSH2):c.1196C>G (p.Ala399Gly)
|
|
|
|
NM_000251.3(MSH2):c.119G>A (p.Gly40Asp)
|
rs876658719
|
|
|
NM_000251.3(MSH2):c.119G>T (p.Gly40Val)
|
rs876658719
|
|
|
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)
|
rs754562075
|
|
|
NM_000251.3(MSH2):c.11_12delinsCC (p.Gln4Pro)
|
rs1553348689
|
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
|
NM_000251.3(MSH2):c.1206A>C (p.Gln402His)
|
rs1553356673
|
|
|
NM_000251.3(MSH2):c.1206A>T (p.Gln402His)
|
rs1553356673
|
|
|
NM_000251.3(MSH2):c.1207G>A (p.Asp403Asn)
|
rs2104441234
|
|
|
NM_000251.3(MSH2):c.1207G>C (p.Asp403His)
|
rs2104441234
|
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
|
|
|
NM_000251.3(MSH2):c.1211G>T (p.Cys404Phe)
|
rs1553356682
|
|
|
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)
|
rs63751108
|
|
|
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)
|
rs146567853
|
|
|
NM_000251.3(MSH2):c.1220T>A (p.Leu407His)
|
|
|
|
NM_000251.3(MSH2):c.1222T>C (p.Tyr408His)
|
|
|
|
NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe)
|
rs63750379
|
|
|
NM_000251.3(MSH2):c.1225C>A (p.Gln409Lys)
|
rs151244108
|
|
|
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)
|
rs151244108
|
|
|
NM_000251.3(MSH2):c.1226A>G (p.Gln409Arg)
|
|
|
|
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del)
|
rs1573485191
|
|
|
NM_000251.3(MSH2):c.1228G>T (p.Gly410Cys)
|
rs587782242
|
|
|
NM_000251.3(MSH2):c.1229G>A (p.Gly410Asp)
|
|
|
|
NM_000251.3(MSH2):c.1231A>G (p.Ile411Val)
|
rs764825558
|
|
|
NM_000251.3(MSH2):c.1233A>G (p.Ile411Met)
|
rs2104442383
|
|
|
NM_000251.3(MSH2):c.1235A>G (p.Asn412Ser)
|
rs1673948297
|
|
|
NM_000251.3(MSH2):c.1236T>A (p.Asn412Lys)
|
|
|
|
NM_000251.3(MSH2):c.1237C>A (p.Gln413Lys)
|
|
|
|
NM_000251.3(MSH2):c.1237C>G (p.Gln413Glu)
|
rs863225387
|
|
|
NM_000251.3(MSH2):c.1240C>G (p.Leu414Val)
|
|
|
|
NM_000251.3(MSH2):c.1241T>G (p.Leu414Arg)
|
rs587779078
|
|
|
NM_000251.3(MSH2):c.1243C>G (p.Pro415Ala)
|
rs35717997
|
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
|
NM_000251.3(MSH2):c.1244C>T (p.Pro415Leu)
|
rs1463763476
|
|
|
NM_000251.3(MSH2):c.1246A>G (p.Asn416Asp)
|
rs1573485356
|
|
|
NM_000251.3(MSH2):c.1247A>C (p.Asn416Thr)
|
rs1386630417
|
|
|
NM_000251.3(MSH2):c.1247A>G (p.Asn416Ser)
|
rs1386630417
|
|
|
NM_000251.3(MSH2):c.1249G>A (p.Val417Ile)
|
rs1673949938
|
|
|
NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)
|
rs876659846
|
|
|
NM_000251.3(MSH2):c.1252A>G (p.Ile418Val)
|
rs763600083
|
|
|
NM_000251.3(MSH2):c.1259C>T (p.Ala420Val)
|
rs1673951633
|
|
|
NM_000251.3(MSH2):c.125T>A (p.Phe42Tyr)
|
rs1672243629
|
|
|
NM_000251.3(MSH2):c.1261C>G (p.Leu421Val)
|
rs63750228
|
|
|
NM_000251.3(MSH2):c.1262T>C (p.Leu421Pro)
|
rs587779080
|
|
|
NM_000251.3(MSH2):c.1264G>A (p.Glu422Lys)
|
rs63751712
|
|
|
NM_000251.3(MSH2):c.1266_1268delinsGTT (p.Lys423Leu)
|
rs2104443846
|
|
|
NM_000251.3(MSH2):c.126C>A (p.Phe42Leu)
|
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
|
NM_000251.3(MSH2):c.1271A>G (p.His424Arg)
|
rs200429136
|
|
|
NM_000251.3(MSH2):c.1273G>A (p.Glu425Lys)
|
rs1064795063
|
|
|
NM_000251.3(MSH2):c.1276+5C>G
|
rs755284496
|
|
|
NM_000251.3(MSH2):c.1276+6A>G
|
rs2104444431
|
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
|
NM_000251.3(MSH2):c.1277-14C>G
|
rs267607951
|
|
|
NM_000251.3(MSH2):c.1279A>G (p.Lys427Glu)
|
rs2103752001
|
|
|
NM_000251.3(MSH2):c.127T>C (p.Tyr43His)
|
rs786202731
|
|
|
NM_000251.3(MSH2):c.127T>G (p.Tyr43Asp)
|
rs786202731
|
|
|
NM_000251.3(MSH2):c.1280A>C (p.Lys427Thr)
|
rs2103752051
|
|
|
NM_000251.3(MSH2):c.1281A>T (p.Lys427Asn)
|
rs1553361147
|
|
|
NM_000251.3(MSH2):c.1282C>G (p.His428Asp)
|
rs1421473851
|
|
|
NM_000251.3(MSH2):c.1284C>A (p.His428Gln)
|
|
|
|
NM_000251.3(MSH2):c.1284C>G (p.His428Gln)
|
rs776034412
|
|
|
NM_000251.3(MSH2):c.1285C>G (p.Gln429Glu)
|
rs63751693
|
|
|
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro)
|
rs1558493372
|
|
|
NM_000251.3(MSH2):c.1286A>G (p.Gln429Arg)
|
rs1558493372
|
|
|
NM_000251.3(MSH2):c.1287G>T (p.Gln429His)
|
|
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
|
NM_000251.3(MSH2):c.1291T>G (p.Leu431Val)
|
|
|
|
NM_000251.3(MSH2):c.1294T>A (p.Leu432Met)
|
rs937218360
|
|
|
NM_000251.3(MSH2):c.1295T>G (p.Leu432Trp)
|
|
|
|
NM_000251.3(MSH2):c.1299G>A (p.Leu433=)
|
rs1573519281
|
|
|
NM_000251.3(MSH2):c.1299G>C (p.Leu433Phe)
|
rs1573519281
|
|
|
NM_000251.3(MSH2):c.1300G>A (p.Ala434Thr)
|
rs2103753488
|
|
|
NM_000251.3(MSH2):c.1303G>A (p.Val435Ile)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser)
|
rs1573519324
|
|
|
NM_000251.3(MSH2):c.1308T>A (p.Phe436Leu)
|
rs2103754064
|
|
|
NM_000251.3(MSH2):c.1309G>A (p.Val437Met)
|
rs773956144
|
|
|
NM_000251.3(MSH2):c.1309G>T (p.Val437Leu)
|
|
|
|
NM_000251.3(MSH2):c.1312A>C (p.Thr438Pro)
|
rs1675067825
|
|
|
NM_000251.3(MSH2):c.1312A>T (p.Thr438Ser)
|
rs1675067825
|
|
|
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile)
|
rs1553361185
|
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
|
NM_000251.3(MSH2):c.1315C>A (p.Pro439Thr)
|
|
|
|
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)
|
rs786203116
|
|
|
NM_000251.3(MSH2):c.1315C>T (p.Pro439Ser)
|
rs786203116
|
|
|
NM_000251.3(MSH2):c.1316C>G (p.Pro439Arg)
|
|
|
|
NM_000251.3(MSH2):c.1318C>G (p.Leu440Val)
|
rs1553361201
|
|
|
NM_000251.3(MSH2):c.1318C>T (p.Leu440Phe)
|
rs1553361201
|
|
|
NM_000251.3(MSH2):c.131C>A (p.Thr44Lys)
|
rs587779085
|
|
|
NM_000251.3(MSH2):c.131C>G (p.Thr44Arg)
|
rs587779085
|
|
|
NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)
|
rs587779086
|
|
|
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
|
NM_000251.3(MSH2):c.1322C>A (p.Thr441Asn)
|
|
|
|
NM_000251.3(MSH2):c.1322C>G (p.Thr441Ser)
|
rs1553361210
|
|
|
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile)
|
rs1553361210
|
|
|
NM_000251.3(MSH2):c.1324G>A (p.Asp442Asn)
|
|
|
|
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)
|
rs876659906
|
|
|
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val)
|
rs876659906
|
|
|
NM_000251.3(MSH2):c.1328T>C (p.Leu443Pro)
|
rs1553361220
|
|
|
NM_000251.3(MSH2):c.1328T>G (p.Leu443Arg)
|
|
|
|
NM_000251.3(MSH2):c.1330C>G (p.Arg444Gly)
|
|
|
|
NM_000251.3(MSH2):c.1330C>T (p.Arg444Cys)
|
rs1675070099
|
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
|
NM_000251.3(MSH2):c.1333T>G (p.Ser445Ala)
|
rs1553361224
|
|
|
NM_000251.3(MSH2):c.1334C>A (p.Ser445Tyr)
|
rs752067883
|
|
|
NM_000251.3(MSH2):c.1334C>G (p.Ser445Cys)
|
rs752067883
|
|
|
NM_000251.3(MSH2):c.1336G>A (p.Asp446Asn)
|
rs1675070779
|
|
|
NM_000251.3(MSH2):c.1339T>G (p.Phe447Val)
|
rs63751217
|
|
|
NM_000251.3(MSH2):c.133G>A (p.Ala45Thr)
|
|
|
|
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)
|
rs587782524
|
|
|
NM_000251.3(MSH2):c.1346A>G (p.Lys449Arg)
|
rs879254064
|
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
|
NM_000251.3(MSH2):c.1350T>G (p.Phe450Leu)
|
rs2103757425
|
|
|
NM_000251.3(MSH2):c.1351C>G (p.Gln451Glu)
|
rs786201066
|
|
|
NM_000251.3(MSH2):c.1352A>G (p.Gln451Arg)
|
rs878853801
|
|
|
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)
|
rs267607954
|
|
|
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu)
|
rs1558493602
|
|
|
NM_000251.3(MSH2):c.1357A>G (p.Met453Val)
|
|
|
|
NM_000251.3(MSH2):c.1360A>C (p.Ile454Leu)
|
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
|
NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)
|
rs777963115
|
|
|
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
|
|
|
|
NM_000251.3(MSH2):c.1369A>G (p.Thr457Ala)
|
rs1445965781
|
|
|
NM_000251.3(MSH2):c.136C>G (p.His46Asp)
|
rs1553348821
|
|
|
NM_000251.3(MSH2):c.136C>T (p.His46Tyr)
|
rs1553348821
|
|
|
NM_000251.3(MSH2):c.1370C>T (p.Thr457Ile)
|
rs1675074892
|
|
|
NM_000251.3(MSH2):c.1372T>G (p.Leu458Val)
|
rs1573519744
|
|
|
NM_000251.3(MSH2):c.1373T>C (p.Leu458Ser)
|
|
|
|
NM_000251.3(MSH2):c.1375G>A (p.Asp459Asn)
|
rs1553361295
|
|
|
NM_000251.3(MSH2):c.1375G>C (p.Asp459His)
|
rs1553361295
|
|
|
NM_000251.3(MSH2):c.1375G>T (p.Asp459Tyr)
|
|
|
|
NM_000251.3(MSH2):c.1376A>G (p.Asp459Gly)
|
rs2103759342
|
|
|
NM_000251.3(MSH2):c.137A>C (p.His46Pro)
|
rs1553348822
|
|
|
NM_000251.3(MSH2):c.1380G>C (p.Met460Ile)
|
rs757534022
|
|
|
NM_000251.3(MSH2):c.1380_1381delinsTT (p.Met460_Asp461delinsIleTyr)
|
rs2103759687
|
|
|
NM_000251.3(MSH2):c.1382A>G (p.Asp461Gly)
|
rs730881756
|
|
|
NM_000251.3(MSH2):c.1383T>A (p.Asp461Glu)
|
rs1114167881
|
|
|
NM_000251.3(MSH2):c.1384C>G (p.Gln462Glu)
|
rs876657701
|
|
|
NM_000251.3(MSH2):c.1386+3A>G
|
rs746390631
|
|
|
NM_000251.3(MSH2):c.1386+4T>C
|
|
|
|
NM_000251.3(MSH2):c.1386+5G>A
|
rs1553361317
|
|
|
NM_000251.3(MSH2):c.1386+6C>G
|
rs1675077236
|
|
|
NM_000251.3(MSH2):c.1386+6C>T
|
rs1675077236
|
|
|
NM_000251.3(MSH2):c.1386G>A (p.Gln462=)
|
rs587781997
|
|
|
NM_000251.3(MSH2):c.1386G>C (p.Gln462His)
|
rs587781997
|
|
|
NM_000251.3(MSH2):c.1387-13G>C
|
|
|
|
NM_000251.3(MSH2):c.1387-3C>T
|
rs1553365696
|
|
|
NM_000251.3(MSH2):c.1387-5T>A
|
rs757458333
|
|
|
NM_000251.3(MSH2):c.1387-9T>C
|
rs587779087
|
|
|
NM_000251.3(MSH2):c.1387G>A (p.Val463Met)
|
rs1064793825
|
|
|
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)
|
rs1487094949
|
|
|
NM_000251.3(MSH2):c.1396C>G (p.His466Asp)
|
|
|
|
NM_000251.3(MSH2):c.1396C>T (p.His466Tyr)
|
rs876658457
|
|
|
NM_000251.3(MSH2):c.1399G>A (p.Glu467Lys)
|
|
|
|
NM_000251.3(MSH2):c.139G>A (p.Gly47Ser)
|
rs763573151
|
|
|
NM_000251.3(MSH2):c.13C>G (p.Pro5Ala)
|
rs1573422612
|
|
|
NM_000251.3(MSH2):c.13C>T (p.Pro5Ser)
|
rs1573422612
|
|
|
NM_000251.3(MSH2):c.1403T>G (p.Phe468Cys)
|
rs1666725141
|
|
|
NM_000251.3(MSH2):c.1404C>G (p.Phe468Leu)
|
rs1255961940
|
|
|
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)
|
rs780702096
|
|
|
NM_000251.3(MSH2):c.1405C>T (p.Leu469Phe)
|
|
|
|
NM_000251.3(MSH2):c.1406T>A (p.Leu469His)
|
|
|
|
NM_000251.3(MSH2):c.1408G>A (p.Val470Ile)
|
rs1391167729
|
|
|
NM_000251.3(MSH2):c.1408G>C (p.Val470Leu)
|
rs1391167729
|
|
|
NM_000251.3(MSH2):c.1412A>G (p.Lys471Arg)
|
rs1573547722
|
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
|
NM_000251.3(MSH2):c.1414C>G (p.Pro472Ala)
|
rs1558508137
|
|
|
NM_000251.3(MSH2):c.1415C>T (p.Pro472Leu)
|
rs1553365723
|
|
|
NM_000251.3(MSH2):c.1418C>A (p.Ser473Ter)
|
|
|
|
NM_000251.3(MSH2):c.141C>T (p.Gly47=)
|
rs587779090
|
|
|
NM_000251.3(MSH2):c.1423G>A (p.Asp475Asn)
|
rs2104086208
|
|
|
NM_000251.3(MSH2):c.1424A>G (p.Asp475Gly)
|
rs1349765126
|
|
|
NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg)
|
|
|
|
NM_000251.3(MSH2):c.1427C>T (p.Pro476Leu)
|
|
|
|
NM_000251.3(MSH2):c.1429A>G (p.Asn477Asp)
|
rs587781346
|
|
|
NM_000251.3(MSH2):c.1429A>T (p.Asn477Tyr)
|
rs587781346
|
|
|
NM_000251.3(MSH2):c.142G>A (p.Glu48Lys)
|
rs63750615
|
|
|
NM_000251.3(MSH2):c.1432C>G (p.Leu478Val)
|
rs1051194508
|
|
|
NM_000251.3(MSH2):c.1438G>A (p.Glu480Lys)
|
|
|
|
NM_000251.3(MSH2):c.1439A>G (p.Glu480Gly)
|
rs1558508167
|
|
|
NM_000251.3(MSH2):c.1440A>T (p.Glu480Asp)
|
rs138049198
|
|
|
NM_000251.3(MSH2):c.1441T>A (p.Leu481Ile)
|
rs1573547857
|
|
|
NM_000251.3(MSH2):c.1445G>C (p.Arg482Thr)
|
rs1553365747
|
|
|
NM_000251.3(MSH2):c.144G>T (p.Glu48Asp)
|
|
|
|
NM_000251.3(MSH2):c.1450A>G (p.Ile484Val)
|
rs1008774957
|
|
|
NM_000251.3(MSH2):c.1451T>A (p.Ile484Lys)
|
rs1225132374
|
|
|
NM_000251.3(MSH2):c.1452A>G (p.Ile484Met)
|
|
|
|
NM_000251.3(MSH2):c.1453A>C (p.Met485Leu)
|
rs775377647
|
|
|
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)
|
rs1553365763
|
|
|
NM_000251.3(MSH2):c.1455G>A (p.Met485Ile)
|
rs876659702
|
|
|
NM_000251.3(MSH2):c.1456A>T (p.Asn486Tyr)
|
rs1472536680
|
|
|
NM_000251.3(MSH2):c.1457A>G (p.Asn486Ser)
|
rs2104089540
|
|
|
NM_000251.3(MSH2):c.145G>A (p.Asp49Asn)
|
rs1488461123
|
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
|
|
NM_000251.3(MSH2):c.1466A>G (p.Glu489Gly)
|
rs2104090316
|
|
|
NM_000251.3(MSH2):c.1467A>C (p.Glu489Asp)
|
rs1553365781
|
|
|
NM_000251.3(MSH2):c.1467A>T (p.Glu489Asp)
|
|
|
|
NM_000251.3(MSH2):c.1469A>G (p.Lys490Arg)
|
rs1060502008
|
|
|
NM_000251.3(MSH2):c.1473_1510+7dup
|
|
|
|
NM_000251.3(MSH2):c.1474A>T (p.Met492Leu)
|
rs774419666
|
|
|
NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)
|
rs1553365792
|
|
|
NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)
|
rs730881771
|
|
|
NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)
|
rs730881757
|
|
|
NM_000251.3(MSH2):c.1486T>G (p.Leu496Val)
|
|
|
|
NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser)
|
rs587779093
|
|
|
NM_000251.3(MSH2):c.1488A>C (p.Leu496Phe)
|
rs267607960
|
|
|
NM_000251.3(MSH2):c.148G>A (p.Ala50Thr)
|
|
|
|
NM_000251.3(MSH2):c.1491A>G (p.Ile497Met)
|
rs1558508340
|
|
|
NM_000251.3(MSH2):c.1493G>A (p.Ser498Asn)
|
rs1553365810
|
|
|
NM_000251.3(MSH2):c.1495G>A (p.Ala499Thr)
|
|
|
|
NM_000251.3(MSH2):c.1495G>C (p.Ala499Pro)
|
rs1060502010
|
|
|
NM_000251.3(MSH2):c.1495G>T (p.Ala499Ser)
|
|
|
|
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro)
|
rs1666733944
|
|
|
NM_000251.3(MSH2):c.1499C>G (p.Ala500Gly)
|
|
|
|
NM_000251.3(MSH2):c.1499C>T (p.Ala500Val)
|
|
|
|
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)
|
rs876658582
|
|
|
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)
|
rs876658582
|
|
|
NM_000251.3(MSH2):c.149C>T (p.Ala50Val)
|
rs876658582
|
|
|
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)
|
rs56170584
|
|
|
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)
|
rs56170584
|
|
|
NM_000251.3(MSH2):c.1501A>G (p.Arg501Gly)
|
rs1666734097
|
|
|
NM_000251.3(MSH2):c.1502G>C (p.Arg501Thr)
|
|
|
|
NM_000251.3(MSH2):c.1505A>T (p.Asp502Val)
|
rs148192104
|
|
|
NM_000251.3(MSH2):c.1507C>A (p.Leu503Ile)
|
rs1553365825
|
|
|
NM_000251.3(MSH2):c.1507C>G (p.Leu503Val)
|
rs1553365825
|
|
|
NM_000251.3(MSH2):c.1507C>T (p.Leu503Phe)
|
rs1553365825
|
|
|
NM_000251.3(MSH2):c.1508T>A (p.Leu503His)
|
rs587779095
|
|
|
NM_000251.3(MSH2):c.1510+18_1510+19insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGGTCATTGG
|
rs2104095063
|
|
|
NM_000251.3(MSH2):c.1510+4A>G
|
rs1666734957
|
|
|
NM_000251.3(MSH2):c.1510+5G>A
|
|
|
|
NM_000251.3(MSH2):c.1510+5G>C
|
|
|
|
NM_000251.3(MSH2):c.1510+6A>G
|
rs1666735071
|
|
|
NM_000251.3(MSH2):c.1510+6_1510+7del
|
rs1060502013
|
|
|
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg)
|
rs63751600
|
|
|
NM_000251.3(MSH2):c.1510G>T (p.Gly504Cys)
|
rs63751600
|
|
|
NM_000251.3(MSH2):c.1511-13_1511-9delinsGT
|
rs1558510749
|
|
|
NM_000251.3(MSH2):c.1511-3A>G
|
|
|
|
NM_000251.3(MSH2):c.1511-8T>A
|
rs267607963
|
|
|
NM_000251.3(MSH2):c.1511G>A (p.Gly504Asp)
|
|
|
|
NM_000251.3(MSH2):c.1518C>A (p.Asp506Glu)
|
rs1553366508
|
|
|
NM_000251.3(MSH2):c.1519C>A (p.Pro507Thr)
|
rs1553366511
|
|
|
NM_000251.3(MSH2):c.151C>G (p.Leu51Val)
|
rs1573423801
|
|
|
NM_000251.3(MSH2):c.1523G>C (p.Gly508Ala)
|
rs786202710
|
|
|
NM_000251.3(MSH2):c.1530G>T (p.Gln510His)
|
rs587782355
|
|
|
NM_000251.3(MSH2):c.1532T>G (p.Ile511Ser)
|
rs1573553170
|
|
|
NM_000251.3(MSH2):c.1533T>G (p.Ile511Met)
|
rs1553366529
|
|
|
NM_000251.3(MSH2):c.1537C>G (p.Leu513Val)
|
rs1553366533
|
|
|
NM_000251.3(MSH2):c.1544C>A (p.Ser515Tyr)
|
|
|
|
NM_000251.3(MSH2):c.1544C>G (p.Ser515Cys)
|
rs1348895710
|
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1549G>A (p.Ala517Thr)
|
rs1553366545
|
|
|
NM_000251.3(MSH2):c.154C>A (p.Leu52Met)
|
rs786202335
|
|
|
NM_000251.3(MSH2):c.154C>G (p.Leu52Val)
|
rs786202335
|
|
|
NM_000251.3(MSH2):c.1553A>C (p.Gln518Pro)
|
rs763323368
|
|
|
NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)
|
|
|
|
NM_000251.3(MSH2):c.1555T>C (p.Phe519Leu)
|
|
|
|
NM_000251.3(MSH2):c.1556T>G (p.Phe519Cys)
|
rs1225503418
|
|
|
NM_000251.3(MSH2):c.1557T>A (p.Phe519Leu)
|
|
|
|
NM_000251.3(MSH2):c.1557T>G (p.Phe519Leu)
|
rs1573553312
|
|
|
NM_000251.3(MSH2):c.1558G>A (p.Gly520Arg)
|
rs2104175628
|
|
|
NM_000251.3(MSH2):c.1559G>A (p.Gly520Glu)
|
rs1666896237
|
|
|
NM_000251.3(MSH2):c.1559G>C (p.Gly520Ala)
|
|
|
|
NM_000251.3(MSH2):c.1559G>T (p.Gly520Val)
|
|
|
|
NM_000251.3(MSH2):c.155T>C (p.Leu52Pro)
|
|
|
|
NM_000251.3(MSH2):c.1561T>A (p.Tyr521Asn)
|
rs1553366562
|
|
|
NM_000251.3(MSH2):c.1561T>G (p.Tyr521Asp)
|
rs1553366562
|
|
|
NM_000251.3(MSH2):c.1562A>G (p.Tyr521Cys)
|
rs879254040
|
|
|
NM_000251.3(MSH2):c.1564T>C (p.Tyr522His)
|
rs1553366567
|
|
|
NM_000251.3(MSH2):c.1565A>G (p.Tyr522Cys)
|
rs1573553370
|
|
|
NM_000251.3(MSH2):c.1567T>G (p.Phe523Val)
|
rs267607966
|
|
|
NM_000251.3(MSH2):c.1571G>T (p.Arg524Leu)
|
rs63751207
|
|
|
NM_000251.3(MSH2):c.1573G>T (p.Val525Leu)
|
|
|
|
NM_000251.3(MSH2):c.1577C>A (p.Thr526Asn)
|
rs1204369578
|
|
|
NM_000251.3(MSH2):c.1577C>G (p.Thr526Ser)
|
|
|
|
NM_000251.3(MSH2):c.1579T>G (p.Cys527Gly)
|
rs2104178065
|
|
|
NM_000251.3(MSH2):c.157G>A (p.Ala53Thr)
|
rs755931648
|
|
|
NM_000251.3(MSH2):c.1580G>C (p.Cys527Ser)
|
rs1553366585
|
|
|
NM_000251.3(MSH2):c.1582A>G (p.Lys528Glu)
|
rs199744440
|
|
|
NM_000251.3(MSH2):c.1583A>G (p.Lys528Arg)
|
rs755799226
|
|
|
NM_000251.3(MSH2):c.1583A>T (p.Lys528Met)
|
rs755799226
|
|
|
NM_000251.3(MSH2):c.1588G>C (p.Glu530Gln)
|
|
|
|
NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala)
|
rs1666901220
|
|
|
NM_000251.3(MSH2):c.1589A>G (p.Glu530Gly)
|
rs1666901220
|
|
|
NM_000251.3(MSH2):c.158C>G (p.Ala53Gly)
|
rs1456393710
|
|
|
NM_000251.3(MSH2):c.158C>T (p.Ala53Val)
|
|
|
|
NM_000251.3(MSH2):c.1591A>G (p.Lys531Glu)
|
|
|
|
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn)
|
rs1553366599
|
|
|
NM_000251.3(MSH2):c.1593A>T (p.Lys531Asn)
|
|
|
|
NM_000251.3(MSH2):c.1594G>A (p.Val532Ile)
|
rs2104179381
|
|
|
NM_000251.3(MSH2):c.1594G>C (p.Val532Leu)
|
rs2104179381
|
|
|
NM_000251.3(MSH2):c.1595T>A (p.Val532Asp)
|
rs754778750
|
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
|
NM_000251.3(MSH2):c.1597C>A (p.Leu533Ile)
|
rs786202987
|
|
|
NM_000251.3(MSH2):c.1597C>T (p.Leu533Phe)
|
rs786202987
|
|
|
NM_000251.3(MSH2):c.1601G>C (p.Arg534Pro)
|
rs587778523
|
|
|
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)
|
rs587778523
|
|
|
NM_000251.3(MSH2):c.1603A>G (p.Asn535Asp)
|
rs1666902628
|
|
|
NM_000251.3(MSH2):c.1605C>G (p.Asn535Lys)
|
rs587779098
|
|
|
NM_000251.3(MSH2):c.1606A>G (p.Asn536Asp)
|
rs2104180432
|
|
|
NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)
|
rs201722703
|
|
|
NM_000251.3(MSH2):c.1607A>T (p.Asn536Ile)
|
rs201722703
|
|
|
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.160G>C (p.Ala54Pro)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1610A>G (p.Lys537Arg)
|
rs747074044
|
|
|
NM_000251.3(MSH2):c.1612A>G (p.Asn538Asp)
|
rs1553366615
|
|
|
NM_000251.3(MSH2):c.1613A>G (p.Asn538Ser)
|
rs1553366617
|
|
|
NM_000251.3(MSH2):c.1615T>A (p.Phe539Ile)
|
|
|
|
NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)
|
rs1558511106
|
|
|
NM_000251.3(MSH2):c.1616T>A (p.Phe539Tyr)
|
rs2104181198
|
|
|
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)
|
rs730881759
|
|
|
NM_000251.3(MSH2):c.1618A>C (p.Ser540Arg)
|
rs1268933712
|
|
|
NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly)
|
rs1268933712
|
|
|
NM_000251.3(MSH2):c.1619G>A (p.Ser540Asn)
|
rs1553366622
|
|
|
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)
|
rs1553366622
|
|
|
NM_000251.3(MSH2):c.161C>T (p.Ala54Val)
|
rs768661914
|
|
|
NM_000251.3(MSH2):c.1620T>A (p.Ser540Arg)
|
|
|
|
NM_000251.3(MSH2):c.1621A>T (p.Thr541Ser)
|
rs141150847
|
|
|
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)
|
rs1553366630
|
|
|
NM_000251.3(MSH2):c.1627G>A (p.Asp543Asn)
|
rs2104182627
|
|
|
NM_000251.3(MSH2):c.1628A>G (p.Asp543Gly)
|
|
|
|
NM_000251.3(MSH2):c.1629T>G (p.Asp543Glu)
|
rs1553366639
|
|
|
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)
|
rs587778524
|
|
|
NM_000251.3(MSH2):c.1635G>T (p.Gln545His)
|
rs1558511163
|
|
|
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
|
|
|
|
NM_000251.3(MSH2):c.1637A>G (p.Lys546Arg)
|
rs1573553723
|
|
|
NM_000251.3(MSH2):c.1638G>C (p.Lys546Asn)
|
rs372350768
|
|
|
NM_000251.3(MSH2):c.163C>A (p.Arg55=)
|
rs587782354
|
|
|
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp)
|
rs587782354
|
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
|
NM_000251.3(MSH2):c.1643G>A (p.Gly548Asp)
|
rs1573553753
|
|
|
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)
|
rs876659905
|
|
|
NM_000251.3(MSH2):c.1645G>T (p.Val549Phe)
|
rs876659905
|
|
|
NM_000251.3(MSH2):c.1648A>G (p.Lys550Glu)
|
rs1558511191
|
|
|
NM_000251.3(MSH2):c.164G>C (p.Arg55Pro)
|
rs748196422
|
|
|
NM_000251.3(MSH2):c.1650A>C (p.Lys550Asn)
|
rs1553366663
|
|
|
NM_000251.3(MSH2):c.1651T>A (p.Phe551Ile)
|
rs1666906629
|
|
|
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)
|
rs63750838
|
|
|
NM_000251.3(MSH2):c.1654A>G (p.Thr552Ala)
|
rs63750838
|
|
|
NM_000251.3(MSH2):c.1655C>G (p.Thr552Ser)
|
rs1666906992
|
|
|
NM_000251.3(MSH2):c.1655C>T (p.Thr552Ile)
|
rs1666906992
|
|
|
NM_000251.3(MSH2):c.1657A>G (p.Asn553Asp)
|
rs772772789
|
|
|
NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)
|
rs2104185998
|
|
|
NM_000251.3(MSH2):c.1659C>G (p.Asn553Lys)
|
rs869312796
|
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
|
NM_000251.3(MSH2):c.1661+11_1661+12delinsTA
|
|
|
|
NM_000251.3(MSH2):c.1661+12_1661+13delinsAA
|
|
|
|
NM_000251.3(MSH2):c.1661+13T>G
|
|
|
|
NM_000251.3(MSH2):c.1661+3T>G
|
rs1064793688
|
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
|
NM_000251.3(MSH2):c.1662-10C>G
|
rs752606387
|
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
|
NM_000251.3(MSH2):c.1662-3C>T
|
rs878853804
|
|
|
NM_000251.3(MSH2):c.1662C>G (p.Ser554Arg)
|
rs587778525
|
|
|
NM_000251.3(MSH2):c.1663A>C (p.Lys555Gln)
|
rs1553367573
|
|
|
NM_000251.3(MSH2):c.1668G>C (p.Leu556Phe)
|
rs1573560244
|
|
|
NM_000251.3(MSH2):c.1668G>T (p.Leu556Phe)
|
rs1573560244
|
|
|
NM_000251.3(MSH2):c.1669A>G (p.Thr557Ala)
|
rs63750432
|
|
|
NM_000251.3(MSH2):c.1669A>T (p.Thr557Ser)
|
rs63750432
|
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.1670C>T (p.Thr557Ile)
|
rs139920308
|
|
|
NM_000251.3(MSH2):c.1670CTT[1] (p.Ser558del)
|
rs1558514487
|
|
|
NM_000251.3(MSH2):c.1673C>T (p.Ser558Phe)
|
rs1553367602
|
|
|
NM_000251.3(MSH2):c.1676T>C (p.Leu559Ser)
|
rs1667073440
|
|
|
NM_000251.3(MSH2):c.1677A>C (p.Leu559Phe)
|
rs1558514500
|
|
|
NM_000251.3(MSH2):c.1679A>G (p.Asn560Ser)
|
rs1429353441
|
|
|
NM_000251.3(MSH2):c.167A>T (p.Glu56Val)
|
rs587782004
|
|
|
NM_000251.3(MSH2):c.167_184del (p.Glu56_Gln61del)
|
rs1553348867
|
|
|
NM_000251.3(MSH2):c.1682_1685inv (p.Glu561_Glu562delinsValLeu)
|
|
|
|
NM_000251.3(MSH2):c.1686G>C (p.Glu562Asp)
|
rs786203850
|
|
|
NM_000251.3(MSH2):c.1687T>A (p.Tyr563Asn)
|
rs1553367622
|
|
|
NM_000251.3(MSH2):c.1687T>C (p.Tyr563His)
|
rs1553367622
|
|
|
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
|
NM_000251.3(MSH2):c.1688A>T (p.Tyr563Phe)
|
|
|
|
NM_000251.3(MSH2):c.168G>C (p.Glu56Asp)
|
rs1281893745
|
|
|
NM_000251.3(MSH2):c.1691C>A (p.Thr564Asn)
|
rs1553367632
|
|
|
NM_000251.3(MSH2):c.1691C>G (p.Thr564Ser)
|
rs1553367632
|
|
|
NM_000251.3(MSH2):c.1691C>T (p.Thr564Ile)
|
rs1553367632
|
|
|
NM_000251.3(MSH2):c.1695A>C (p.Lys565Asn)
|
rs1667075835
|
|
|
NM_000251.3(MSH2):c.1696A>C (p.Asn566His)
|
|
|
|
NM_000251.3(MSH2):c.169G>A (p.Val57Met)
|
rs267607913
|
|
|
NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)
|
rs777351049
|
|
|
NM_000251.3(MSH2):c.1700A>C (p.Lys567Thr)
|
rs1667076297
|
|
|
NM_000251.3(MSH2):c.1700_1702del (p.Lys567del)
|
rs587779105
|
|
|
NM_000251.3(MSH2):c.1702A>G (p.Thr568Ala)
|
rs1667076382
|
|
|
NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)
|
rs1285862035
|
|
|
NM_000251.3(MSH2):c.1703C>T (p.Thr568Ile)
|
rs1285862035
|
|
|
NM_000251.3(MSH2):c.1705G>C (p.Glu569Gln)
|
rs1449130671
|
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
|
NM_000251.3(MSH2):c.1708T>C (p.Tyr570His)
|
rs1553367656
|
|
|
NM_000251.3(MSH2):c.1709A>C (p.Tyr570Ser)
|
rs587779963
|
|
|
NM_000251.3(MSH2):c.1709A>T (p.Tyr570Phe)
|
rs587779963
|
|
|
NM_000251.3(MSH2):c.170T>G (p.Val57Gly)
|
rs1558451971
|
|
|
NM_000251.3(MSH2):c.1711G>C (p.Glu571Gln)
|
rs1667077650
|
|
|
NM_000251.3(MSH2):c.1712A>G (p.Glu571Gly)
|
rs1667077799
|
|
|
NM_000251.3(MSH2):c.1712AAG[1] (p.Glu572del)
|
rs1667077735
|
|
|
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile)
|
rs1558514635
|
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
|
NM_000251.3(MSH2):c.1721A>G (p.Gln574Arg)
|
rs1667078647
|
|
|
NM_000251.3(MSH2):c.1722G>T (p.Gln574His)
|
rs1667078764
|
|
|
NM_000251.3(MSH2):c.1725T>A (p.Asp575Glu)
|
rs906877196
|
|
|
NM_000251.3(MSH2):c.1729A>C (p.Ile577Leu)
|
rs774985655
|
|
|
NM_000251.3(MSH2):c.1732G>A (p.Val578Ile)
|
rs1667082140
|
|
|
NM_000251.3(MSH2):c.1735A>G (p.Lys579Glu)
|
rs1573560604
|
|
|
NM_000251.3(MSH2):c.1738G>A (p.Glu580Lys)
|
rs63751411
|
|
|
NM_000251.3(MSH2):c.1744G>C (p.Val582Leu)
|
rs2104279458
|
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
|
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.1751T>C (p.Ile584Thr)
|
rs1573560689
|
|
|
NM_000251.3(MSH2):c.1754C>T (p.Ser585Phe)
|
rs1280971849
|
|
|
NM_000251.3(MSH2):c.1758A>G (p.Ser586=)
|
rs2104280341
|
|
|
NM_000251.3(MSH2):c.1759+3A>T
|
rs863224630
|
|
|
NM_000251.3(MSH2):c.1759+4A>G
|
rs1667084426
|
|
|
NM_000251.3(MSH2):c.1760-11T>G
|
|
|
|
NM_000251.3(MSH2):c.1760G>T (p.Gly587Val)
|
rs1436608214
|
|
|
NM_000251.3(MSH2):c.1761C>G (p.Gly587=)
|
rs920449426
|
|
|
NM_000251.3(MSH2):c.1763A>G (p.Tyr588Cys)
|
rs1236199597
|
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
|
NM_000251.3(MSH2):c.1768G>A (p.Glu590Lys)
|
|
|
|
NM_000251.3(MSH2):c.1769A>G (p.Glu590Gly)
|
rs2104335303
|
|
|
NM_000251.3(MSH2):c.176A>G (p.Lys59Arg)
|
rs777174093
|
|
|
NM_000251.3(MSH2):c.1770A>C (p.Glu590Asp)
|
rs760619442
|
|
|
NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)
|
rs951988481
|
|
|
NM_000251.3(MSH2):c.1771C>G (p.Pro591Ala)
|
|
|
|
NM_000251.3(MSH2):c.1775T>C (p.Met592Thr)
|
rs1667230405
|
|
|
NM_000251.3(MSH2):c.1777C>G (p.Gln593Glu)
|
rs63750200
|
|
|
NM_000251.3(MSH2):c.1778A>G (p.Gln593Arg)
|
rs1558517711
|
|
|
NM_000251.3(MSH2):c.1778A>T (p.Gln593Leu)
|
rs1558517711
|
|
|
NM_000251.3(MSH2):c.1779G>C (p.Gln593His)
|
rs1553368505
|
|
|
NM_000251.3(MSH2):c.1781C>A (p.Thr594Lys)
|
rs1553368510
|
|
|
NM_000251.3(MSH2):c.1783C>G (p.Leu595Val)
|
rs1553368514
|
|
|
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)
|
rs1553368514
|
|
|
NM_000251.3(MSH2):c.1784T>C (p.Leu595Pro)
|
rs786201590
|
|
|
NM_000251.3(MSH2):c.1785_1790del (p.Asn596_Asp597del)
|
rs2104336676
|
|
|
NM_000251.3(MSH2):c.1786A>C (p.Asn596His)
|
rs1064794906
|
|
|
NM_000251.3(MSH2):c.1787A>T (p.Asn596Ile)
|
rs41295288
|
|
|
NM_000251.3(MSH2):c.178A>C (p.Thr60Pro)
|
rs1573424088
|
|
|
NM_000251.3(MSH2):c.1790A>G (p.Asp597Gly)
|
rs548407418
|
|
|
NM_000251.3(MSH2):c.1790A>T (p.Asp597Val)
|
rs548407418
|
|
|
NM_000251.3(MSH2):c.1793T>C (p.Val598Ala)
|
rs2104337376
|
|
|
NM_000251.3(MSH2):c.1795T>G (p.Leu599Val)
|
rs112457919
|
|
|
NM_000251.3(MSH2):c.1798G>C (p.Ala600Pro)
|
rs587778526
|
|
|
NM_000251.3(MSH2):c.1799C>G (p.Ala600Gly)
|
rs63751236
|
|
|
NM_000251.3(MSH2):c.17A>G (p.Lys6Arg)
|
|
|
|
NM_000251.3(MSH2):c.1802A>C (p.Gln601Pro)
|
rs779447213
|
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
|
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala)
|
rs267607985
|
|
|
NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)
|
rs1553368568
|
|
|
NM_000251.3(MSH2):c.1811C>G (p.Ala604Gly)
|
rs2104338716
|
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
|
NM_000251.3(MSH2):c.1816_1818del (p.Val606del)
|
rs2104339189
|
|
|
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala)
|
rs376044376
|
|
|
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del)
|
rs1553368576
|
|
|
NM_000251.3(MSH2):c.1819A>C (p.Ser607Arg)
|
|
|
|
NM_000251.3(MSH2):c.1819A>T (p.Ser607Cys)
|
rs772991620
|
|
|
NM_000251.3(MSH2):c.181C>G (p.Gln61Glu)
|
rs63750951
|
|
|
NM_000251.3(MSH2):c.1820G>A (p.Ser607Asn)
|
|
|
|
NM_000251.3(MSH2):c.1820G>C (p.Ser607Thr)
|
rs2104339417
|
|
|
NM_000251.3(MSH2):c.1822T>C (p.Phe608Leu)
|
rs2104339508
|
|
|
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro)
|
rs150980616
|
|
|
NM_000251.3(MSH2):c.1826C>G (p.Ala609Gly)
|
rs63750665
|
|
|
NM_000251.3(MSH2):c.1826C>T (p.Ala609Val)
|
rs63750665
|
|
|
NM_000251.3(MSH2):c.1828C>A (p.His610Asn)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.1828C>G (p.His610Asp)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.1829A>G (p.His610Arg)
|
rs1667236175
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.1830C>A (p.His610Gln)
|
rs766326295
|
|
|
NM_000251.3(MSH2):c.1830C>G (p.His610Gln)
|
rs766326295
|
|
|
NM_000251.3(MSH2):c.1831G>C (p.Val611Leu)
|
rs369385048
|
|
|
NM_000251.3(MSH2):c.1831G>T (p.Val611Leu)
|
rs369385048
|
|
|
NM_000251.3(MSH2):c.1837A>T (p.Asn613Tyr)
|
rs200147804
|
|
|
NM_000251.3(MSH2):c.1838A>G (p.Asn613Ser)
|
|
|
|
NM_000251.3(MSH2):c.183G>C (p.Gln61His)
|
rs751082926
|
|
|
NM_000251.3(MSH2):c.1841G>A (p.Gly614Glu)
|
rs1298430398
|
|
|
NM_000251.3(MSH2):c.1841G>C (p.Gly614Ala)
|
|
|
|
NM_000251.3(MSH2):c.1843G>A (p.Ala615Thr)
|
rs1223047169
|
|
|
NM_000251.3(MSH2):c.1843G>C (p.Ala615Pro)
|
rs1223047169
|
|
|
NM_000251.3(MSH2):c.1844C>T (p.Ala615Val)
|
rs765493709
|
|
|
NM_000251.3(MSH2):c.1846C>A (p.Pro616Thr)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.1846C>G (p.Pro616Ala)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.184G>A (p.Gly62Arg)
|
rs767140240
|
|
|
NM_000251.3(MSH2):c.184G>C (p.Gly62Arg)
|
rs767140240
|
|
|
NM_000251.3(MSH2):c.1852C>T (p.Pro618Ser)
|
rs1573566801
|
|
|
NM_000251.3(MSH2):c.1853C>T (p.Pro618Leu)
|
rs1486519909
|
|
|
NM_000251.3(MSH2):c.1858G>A (p.Val620Ile)
|
|
|
|
NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)
|
rs879254195
|
|
|
NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)
|
|
|
|
NM_000251.3(MSH2):c.1867G>A (p.Ala623Thr)
|
rs1114167846
|
|
|
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val)
|
rs781698416
|
|
|
NM_000251.3(MSH2):c.186G>T (p.Gly62=)
|
rs750058876
|
|
|
NM_000251.3(MSH2):c.1870A>G (p.Ile624Val)
|
rs1553368626
|
|
|
NM_000251.3(MSH2):c.1871T>C (p.Ile624Thr)
|
|
|
|
NM_000251.3(MSH2):c.1875_1876delinsTA (p.Leu625_Glu626delinsPheLys)
|
rs2104343103
|
|
|
NM_000251.3(MSH2):c.1876G>C (p.Glu626Gln)
|
rs1667240403
|
|
|
NM_000251.3(MSH2):c.1877A>G (p.Glu626Gly)
|
|
|
|
NM_000251.3(MSH2):c.1879A>G (p.Lys627Glu)
|
rs1558518146
|
|
|
NM_000251.3(MSH2):c.187G>T (p.Val63Leu)
|
rs1553348889
|
|
|
NM_000251.3(MSH2):c.1882G>C (p.Gly628Arg)
|
rs371776176
|
|
|
NM_000251.3(MSH2):c.1883G>A (p.Gly628Glu)
|
rs879254044
|
|
|
NM_000251.3(MSH2):c.1883G>T (p.Gly628Val)
|
rs879254044
|
|
|
NM_000251.3(MSH2):c.1885C>G (p.Gln629Glu)
|
|
|
|
NM_000251.3(MSH2):c.188T>C (p.Val63Ala)
|
rs1558452054
|
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
|
NM_000251.3(MSH2):c.1897A>C (p.Ile633Leu)
|
rs771695599
|
|
|
NM_000251.3(MSH2):c.1897A>T (p.Ile633Leu)
|
rs771695599
|
|
|
NM_000251.3(MSH2):c.1899A>G (p.Ile633Met)
|
rs1667243318
|
|
|
NM_000251.3(MSH2):c.1899A>T (p.Ile633=)
|
rs1667243318
|
|
|
NM_000251.3(MSH2):c.18G>T (p.Lys6Asn)
|
rs146017810
|
|
|
NM_000251.3(MSH2):c.1905A>T (p.Lys635Asn)
|
rs2104344792
|
|
|
NM_000251.3(MSH2):c.1909T>C (p.Ser637Pro)
|
rs2104345040
|
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
|
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)
|
rs1064795992
|
|
|
NM_000251.3(MSH2):c.1914G>T (p.Arg638Ser)
|
rs1177447151
|
|
|
NM_000251.3(MSH2):c.1915C>A (p.His639Asn)
|
|
|
|
NM_000251.3(MSH2):c.1916A>C (p.His639Pro)
|
rs587779116
|
|
|
NM_000251.3(MSH2):c.1916A>G (p.His639Arg)
|
rs587779116
|
|
|
NM_000251.3(MSH2):c.1917T>A (p.His639Gln)
|
rs1800152
|
|
|
NM_000251.3(MSH2):c.1918G>A (p.Ala640Thr)
|
rs531276135
|
|
|
NM_000251.3(MSH2):c.1919C>G (p.Ala640Gly)
|
rs1667244869
|
|
|
NM_000251.3(MSH2):c.1922G>C (p.Cys641Ser)
|
rs786204110
|
|
|
NM_000251.3(MSH2):c.1922G>T (p.Cys641Phe)
|
rs786204110
|
|
|
NM_000251.3(MSH2):c.1924G>C (p.Val642Leu)
|
rs776528054
|
|
|
NM_000251.3(MSH2):c.1924G>T (p.Val642Phe)
|
rs776528054
|
|
|
NM_000251.3(MSH2):c.1934A>C (p.Gln645Pro)
|
rs1573567208
|
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
|
NM_000251.3(MSH2):c.1936G>T (p.Asp646Tyr)
|
rs1573567223
|
|
|
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly)
|
rs41295290
|
|
|
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val)
|
rs41295290
|
|
|
NM_000251.3(MSH2):c.1938T>A (p.Asp646Glu)
|
|
|
|
NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr)
|
rs763100088
|
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
|
NM_000251.3(MSH2):c.1946C>A (p.Ala649Glu)
|
rs876659816
|
|
|
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)
|
rs876659816
|
|
|
NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)
|
|
|
|
NM_000251.3(MSH2):c.194A>G (p.Lys65Arg)
|
rs2103881225
|
|
|
NM_000251.3(MSH2):c.1951A>C (p.Ile651Leu)
|
|
|
|
NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)
|
rs878853806
|
|
|
NM_000251.3(MSH2):c.1951A>T (p.Ile651Phe)
|
|
|
|
NM_000251.3(MSH2):c.1952T>C (p.Ile651Thr)
|
rs1667248028
|
|
|
NM_000251.3(MSH2):c.1954C>A (p.Pro652Thr)
|
rs876660900
|
|
|
NM_000251.3(MSH2):c.1954C>G (p.Pro652Ala)
|
rs876660900
|
|
|
NM_000251.3(MSH2):c.1954C>T (p.Pro652Ser)
|
rs876660900
|
|
|
NM_000251.3(MSH2):c.1955C>T (p.Pro652Leu)
|
rs267607983
|
|
|
NM_000251.3(MSH2):c.1957A>T (p.Asn653Tyr)
|
|
|
|
NM_000251.3(MSH2):c.195G>C (p.Lys65Asn)
|
rs1672253554
|
|
|
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val)
|
rs2104348304
|
|
|
NM_000251.3(MSH2):c.1962C>G (p.Asp654Glu)
|
rs751939698
|
|
|
NM_000251.3(MSH2):c.1964del (p.Val655fs)
|
rs1667248887
|
|
|
NM_000251.3(MSH2):c.1966T>C (p.Tyr656His)
|
rs1573567393
|
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
|
NM_000251.3(MSH2):c.1969T>A (p.Phe657Ile)
|
|
|
|
NM_000251.3(MSH2):c.1969T>G (p.Phe657Val)
|
|
|
|
NM_000251.3(MSH2):c.1970T>G (p.Phe657Cys)
|
rs1667249809
|
|
|
NM_000251.3(MSH2):c.1972G>C (p.Glu658Gln)
|
rs1558518517
|
|
|
NM_000251.3(MSH2):c.1973A>G (p.Glu658Gly)
|
rs200827721
|
|
|
NM_000251.3(MSH2):c.1977A>C (p.Lys659Asn)
|
rs1667250253
|
|
|
NM_000251.3(MSH2):c.1978G>A (p.Asp660Asn)
|
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
|
NM_000251.3(MSH2):c.1980T>A (p.Asp660Glu)
|
rs1060501988
|
|
|
NM_000251.3(MSH2):c.1981A>G (p.Lys661Glu)
|
rs1553368707
|
|
|
NM_000251.3(MSH2):c.1982A>G (p.Lys661Arg)
|
rs1558518553
|
|
|
NM_000251.3(MSH2):c.1984C>G (p.Gln662Glu)
|
rs786204321
|
|
|
NM_000251.3(MSH2):c.1986G>C (p.Gln662His)
|
rs587780685
|
|
|
NM_000251.3(MSH2):c.1986G>T (p.Gln662His)
|
rs587780685
|
|
|
NM_000251.3(MSH2):c.1989G>A (p.Met663Ile)
|
rs863224640
|
|
|
NM_000251.3(MSH2):c.1992C>G (p.Phe664Leu)
|
rs777450803
|
|
|
NM_000251.3(MSH2):c.1993C>T (p.His665Tyr)
|
rs1573567600
|
|
|
NM_000251.3(MSH2):c.1994A>C (p.His665Pro)
|
rs2104350343
|
|
|
NM_000251.3(MSH2):c.1995C>G (p.His665Gln)
|
rs1553368723
|
|
|
NM_000251.3(MSH2):c.1996A>G (p.Ile666Val)
|
rs1667252115
|
|
|
NM_000251.3(MSH2):c.199A>C (p.Met67Leu)
|
rs768824654
|
|
|
NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)
|
rs375561490
|
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.1A>G (p.Met1Val)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.1A>T (p.Met1Leu)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.1_8del (p.Met1fs)
|
rs1558451013
|
|
|
NM_000251.3(MSH2):c.2003C>G (p.Thr668Ser)
|
rs1667252681
|
|
|
NM_000251.3(MSH2):c.2003C>T (p.Thr668Ile)
|
|
|
|
NM_000251.3(MSH2):c.2004T>G (p.Thr668=)
|
|
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
|
NM_000251.3(MSH2):c.2005+3A>G
|
rs1060502014
|
|
|
NM_000251.3(MSH2):c.2005+3A>T
|
rs1060502014
|
|
|
NM_000251.3(MSH2):c.2005+4A>C
|
rs1337550192
|
|
|
NM_000251.3(MSH2):c.2005+6A>C
|
rs1060502018
|
|
|
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg)
|
rs63751668
|
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
|
NM_000251.3(MSH2):c.2006-12T>G
|
rs2104367663
|
|
|
NM_000251.3(MSH2):c.2006-15T>G
|
rs1057524452
|
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
|
NM_000251.3(MSH2):c.2006-8T>A
|
rs1553368970
|
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
|
NM_000251.3(MSH2):c.2006G>C (p.Gly669Ala)
|
rs63751640
|
|
|
NM_000251.3(MSH2):c.2008C>A (p.Pro670Thr)
|
rs1558519495
|
|
|
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser)
|
rs1558519495
|
|
|
NM_000251.3(MSH2):c.2009C>A (p.Pro670His)
|
rs41294982
|
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
|
NM_000251.3(MSH2):c.200T>C (p.Met67Thr)
|
rs876660001
|
|
|
NM_000251.3(MSH2):c.200T>G (p.Met67Arg)
|
rs876660001
|
|
|
NM_000251.3(MSH2):c.2011A>C (p.Asn671His)
|
|
|
|
NM_000251.3(MSH2):c.2011A>G (p.Asn671Asp)
|
rs63751232
|
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
|
NM_000251.3(MSH2):c.2014A>G (p.Met672Val)
|
rs763690339
|
|
|
NM_000251.3(MSH2):c.2015T>G (p.Met672Arg)
|
rs786203126
|
|
|
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg)
|
rs1558519543
|
|
|
NM_000251.3(MSH2):c.2018G>C (p.Gly673Ala)
|
|
|
|
NM_000251.3(MSH2):c.201G>C (p.Met67Ile)
|
rs1442557180
|
|
|
NM_000251.3(MSH2):c.201_211+8dup
|
rs2103881979
|
|
|
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu)
|
rs1060501990
|
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
|
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)
|
rs1553369013
|
|
|
NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)
|
rs876659093
|
|
|
NM_000251.3(MSH2):c.2035A>G (p.Ile679Val)
|
|
|
|
NM_000251.3(MSH2):c.2039G>T (p.Arg680Leu)
|
rs1203462814
|
|
|
NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)
|
rs1064795914
|
|
|
NM_000251.3(MSH2):c.203G>T (p.Gly68Val)
|
rs1064795914
|
|
|
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)
|
rs730881762
|
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
|
NM_000251.3(MSH2):c.2043A>C (p.Gln681His)
|
rs730881763
|
|
|
NM_000251.3(MSH2):c.2043A>T (p.Gln681His)
|
rs730881763
|
|
|
NM_000251.3(MSH2):c.2045C>T (p.Thr682Ile)
|
rs587779130
|
|
|
NM_000251.3(MSH2):c.2048G>A (p.Gly683Glu)
|
rs755920849
|
|
|
NM_000251.3(MSH2):c.2048G>C (p.Gly683Ala)
|
|
|
|
NM_000251.3(MSH2):c.2053A>T (p.Ile685Leu)
|
rs1060499876
|
|
|
NM_000251.3(MSH2):c.2054T>C (p.Ile685Thr)
|
rs1667303602
|
|
|
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)
|
rs989001878
|
|
|
NM_000251.3(MSH2):c.2062A>C (p.Met688Leu)
|
rs1573569964
|
|
|
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr)
|
rs63749993
|
|
|
NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr)
|
rs2104371537
|
|
|
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)
|
rs914610419
|
|
|
NM_000251.3(MSH2):c.2065G>T (p.Ala689Ser)
|
rs914610419
|
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
|
NM_000251.3(MSH2):c.2066C>T (p.Ala689Val)
|
rs1060502020
|
|
|
NM_000251.3(MSH2):c.206C>G (p.Pro69Arg)
|
rs983555044
|
|
|
NM_000251.3(MSH2):c.206C>T (p.Pro69Leu)
|
rs983555044
|
|
|
NM_000251.3(MSH2):c.2070A>C (p.Gln690His)
|
rs1285666422
|
|
|
NM_000251.3(MSH2):c.2070A>T (p.Gln690His)
|
rs1285666422
|
|
|
NM_000251.3(MSH2):c.2071A>G (p.Ile691Val)
|
rs1667305232
|
|
|
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)
|
rs754824872
|
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
|
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg)
|
rs1558519728
|
|
|
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)
|
rs1114167857
|
|
|
NM_000251.3(MSH2):c.2083G>T (p.Val695Leu)
|
|
|
|
NM_000251.3(MSH2):c.2084T>C (p.Val695Ala)
|
rs1667306822
|
|
|
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala)
|
rs546201898
|
|
|
NM_000251.3(MSH2):c.208G>T (p.Ala70Ser)
|
rs587778522
|
|
|
NM_000251.3(MSH2):c.2096C>T (p.Ser699Leu)
|
rs587779136
|
|
|
NM_000251.3(MSH2):c.2096CAG[1] (p.Ala700del)
|
rs1667308001
|
|
|
NM_000251.3(MSH2):c.2098_2100delinsAAG (p.Ala700Lys)
|
rs1558519789
|
|
|
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu)
|
rs587782481
|
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
|
NM_000251.3(MSH2):c.209_211+11dup
|
|
|
|
NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.20A>T (p.Glu7Val)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.2102A>G (p.Glu701Gly)
|
|
|
|
NM_000251.3(MSH2):c.2104G>A (p.Val702Met)
|
|
|
|
NM_000251.3(MSH2):c.2104G>T (p.Val702Leu)
|
|
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
|
NM_000251.3(MSH2):c.2105T>G (p.Val702Gly)
|
rs587779137
|
|
|
NM_000251.3(MSH2):c.2108C>G (p.Ser703Cys)
|
rs267607999
|
|
|
NM_000251.3(MSH2):c.2108C>T (p.Ser703Phe)
|
rs267607999
|
|
|
NM_000251.3(MSH2):c.210A>C (p.Ala70=)
|
rs1230662279
|
|
|
NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg)
|
|
|
|
NM_000251.3(MSH2):c.211+12G>T
|
rs1672256808
|
|
|
NM_000251.3(MSH2):c.211+17C>T
|
rs759836033
|
|
|
NM_000251.3(MSH2):c.211+3G>A
|
rs778940305
|
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
|
NM_000251.3(MSH2):c.211+4A>G
|
rs1553348917
|
|
|
NM_000251.3(MSH2):c.211+5G>A
|
rs1060501999
|
|
|
NM_000251.3(MSH2):c.211+6G>C
|
rs1558452178
|
|
|
NM_000251.3(MSH2):c.211+8_211+9delinsTG
|
rs1553348920
|
|
|
NM_000251.3(MSH2):c.211+97_211+98delinsTC
|
|
|
|
NM_000251.3(MSH2):c.2113G>A (p.Val705Met)
|
rs1553369128
|
|
|
NM_000251.3(MSH2):c.2113G>C (p.Val705Leu)
|
rs1553369128
|
|
|
NM_000251.3(MSH2):c.2117A>G (p.Asp706Gly)
|
rs2104374493
|
|
|
NM_000251.3(MSH2):c.2119T>G (p.Cys707Gly)
|
rs1553369135
|
|
|
NM_000251.3(MSH2):c.212-1G>T
|
rs267607914
|
|
|
NM_000251.3(MSH2):c.212-1_366+1dup
|
rs2103975062
|
|
|
NM_000251.3(MSH2):c.212-2del
|
rs1060502007
|
|
|
NM_000251.3(MSH2):c.212-2dup
|
|
|
|
NM_000251.3(MSH2):c.212-3_213del
|
rs1573436131
|
|
|
NM_000251.3(MSH2):c.212-485_212-468del
|
rs1213915943
|
|
|
NM_000251.3(MSH2):c.212-6T>A
|
rs1054214997
|
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
|
NM_000251.3(MSH2):c.2122A>C (p.Ile708Leu)
|
rs750084297
|
|
|
NM_000251.3(MSH2):c.2125T>G (p.Leu709Val)
|
rs1060502030
|
|
|
NM_000251.3(MSH2):c.2128G>A (p.Ala710Thr)
|
|
|
|
NM_000251.3(MSH2):c.2128G>C (p.Ala710Pro)
|
rs1558519878
|
|
|
NM_000251.3(MSH2):c.2128G>T (p.Ala710Ser)
|
rs1558519878
|
|
|
NM_000251.3(MSH2):c.2129C>T (p.Ala710Val)
|
rs373717132
|
|
|
NM_000251.3(MSH2):c.2131C>G (p.Arg711Gly)
|
rs63750636
|
|
|
NM_000251.3(MSH2):c.2133A>G (p.Arg711=)
|
rs1573570382
|
|
|
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)
|
rs1573570391
|
|
|
NM_000251.3(MSH2):c.2138G>T (p.Gly713Val)
|
rs753555602
|
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
|
NM_000251.3(MSH2):c.2140G>A (p.Ala714Thr)
|
rs2104375781
|
|
|
NM_000251.3(MSH2):c.2140G>T (p.Ala714Ser)
|
rs2104375781
|
|
|
NM_000251.3(MSH2):c.2143G>C (p.Gly715Arg)
|
rs1268745538
|
|
|
NM_000251.3(MSH2):c.2144G>A (p.Gly715Asp)
|
|
|
|
NM_000251.3(MSH2):c.2144G>C (p.Gly715Ala)
|
rs1558519942
|
|
|
NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly)
|
rs2104376248
|
|
|
NM_000251.3(MSH2):c.214G>A (p.Ala72Thr)
|
rs1558456993
|
|
|
NM_000251.3(MSH2):c.214G>T (p.Ala72Ser)
|
rs1558456993
|
|
|
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)
|
rs752883472
|
|
|
NM_000251.3(MSH2):c.2150G>C (p.Ser717Thr)
|
|
|
|
NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)
|
rs587779139
|
|
|
NM_000251.3(MSH2):c.2153A>G (p.Gln718Arg)
|
rs1667312654
|
|
|
NM_000251.3(MSH2):c.2153A>T (p.Gln718Leu)
|
|
|
|
NM_000251.3(MSH2):c.2154A>C (p.Gln718His)
|
rs63750810
|
|
|
NM_000251.3(MSH2):c.2157G>T (p.Leu719Phe)
|
|
|
|
NM_000251.3(MSH2):c.2159_2161del (p.Lys720_Gly721delinsArg)
|
|
|
|
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly)
|
rs1558457009
|
|
|
NM_000251.3(MSH2):c.2161G>C (p.Gly721Arg)
|
|
|
|
NM_000251.3(MSH2):c.2162G>A (p.Gly721Glu)
|
|
|
|
NM_000251.3(MSH2):c.2162G>C (p.Gly721Ala)
|
|
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
|
NM_000251.3(MSH2):c.2165T>C (p.Val722Ala)
|
rs2104377193
|
|
|
NM_000251.3(MSH2):c.2168C>G (p.Ser723Cys)
|
rs63750794
|
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
|
NM_000251.3(MSH2):c.2171C>G (p.Thr724Arg)
|
rs63751125
|
|
|
NM_000251.3(MSH2):c.2175C>G (p.Phe725Leu)
|
|
|
|
NM_000251.3(MSH2):c.2176A>G (p.Met726Val)
|
rs1114167847
|
|
|
NM_000251.3(MSH2):c.2176A>T (p.Met726Leu)
|
rs1114167847
|
|
|
NM_000251.3(MSH2):c.2177T>C (p.Met726Thr)
|
rs1667314656
|
|
|
NM_000251.3(MSH2):c.2179G>C (p.Ala727Pro)
|
rs104895026
|
|
|
NM_000251.3(MSH2):c.2179G>T (p.Ala727Ser)
|
rs104895026
|
|
|
NM_000251.3(MSH2):c.2180C>T (p.Ala727Val)
|
|
|
|
NM_000251.3(MSH2):c.2182G>A (p.Glu728Lys)
|
|
|
|
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)
|
rs1553369194
|
|
|
NM_000251.3(MSH2):c.2185A>G (p.Met729Val)
|
rs1558520059
|
|
|
NM_000251.3(MSH2):c.218A>G (p.Lys73Arg)
|
rs1444672793
|
|
|
NM_000251.3(MSH2):c.2190G>T (p.Leu730Phe)
|
rs864622370
|
|
|
NM_000251.3(MSH2):c.2195C>G (p.Thr732Ser)
|
rs730881765
|
|
|
NM_000251.3(MSH2):c.2195C>T (p.Thr732Ile)
|
rs730881765
|
|
|
NM_000251.3(MSH2):c.2198C>T (p.Ala733Val)
|
|
|
|
NM_000251.3(MSH2):c.219G>C (p.Lys73Asn)
|
|
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
|
NM_000251.3(MSH2):c.2201C>T (p.Ser734Phe)
|
|
|
|
NM_000251.3(MSH2):c.2203A>C (p.Ile735Leu)
|
|
|
|
NM_000251.3(MSH2):c.2206C>A (p.Leu736Ile)
|
|
|
|
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val)
|
rs876658727
|
|
|
NM_000251.3(MSH2):c.2206C>T (p.Leu736Phe)
|
rs876658727
|
|
|
NM_000251.3(MSH2):c.2207T>C (p.Leu736Pro)
|
rs2104379356
|
|
|
NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly)
|
rs1573570754
|
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
|
NM_000251.3(MSH2):c.2210+3A>T
|
|
|
|
NM_000251.3(MSH2):c.2210+4A>G
|
|
|
|
NM_000251.3(MSH2):c.2210+4_2210+5delinsTT
|
rs2104379748
|
|
|
NM_000251.3(MSH2):c.2210+5G>A
|
|
|
|
NM_000251.3(MSH2):c.2210+5G>C
|
rs143873719
|
|
|
NM_000251.3(MSH2):c.2210+5G>T
|
|
|
|
NM_000251.3(MSH2):c.2210+6T>C
|
rs1357904200
|
|
|
NM_000251.3(MSH2):c.2211-18T>G
|
rs1028109019
|
|
|
NM_000251.3(MSH2):c.2211-3C>T
|
rs1667385443
|
|
|
NM_000251.3(MSH2):c.2212T>G (p.Ser738Ala)
|
|
|
|
NM_000251.3(MSH2):c.2213C>T (p.Ser738Phe)
|
|
|
|
NM_000251.3(MSH2):c.2215G>A (p.Ala739Thr)
|
rs1553369624
|
|
|
NM_000251.3(MSH2):c.2218A>G (p.Thr740Ala)
|
rs1553369627
|
|
|
NM_000251.3(MSH2):c.2219C>G (p.Thr740Ser)
|
rs1553369628
|
|
|
NM_000251.3(MSH2):c.2219C>T (p.Thr740Ile)
|
rs1553369628
|
|
|
NM_000251.3(MSH2):c.221A>C (p.Asn74Thr)
|
rs1114167869
|
|
|
NM_000251.3(MSH2):c.221A>G (p.Asn74Ser)
|
rs1114167869
|
|
|
NM_000251.3(MSH2):c.2221A>C (p.Lys741Gln)
|
rs1667386150
|
|
|
NM_000251.3(MSH2):c.2221A>G (p.Lys741Glu)
|
rs1667386150
|
|
|
NM_000251.3(MSH2):c.2224G>C (p.Asp742His)
|
|
|
|
NM_000251.3(MSH2):c.2224G>T (p.Asp742Tyr)
|
rs879254183
|
|
|
NM_000251.3(MSH2):c.2225A>T (p.Asp742Val)
|
rs1420354168
|
|
|
NM_000251.3(MSH2):c.2226T>A (p.Asp742Glu)
|
|
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
|
NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)
|
rs1553350075
|
|
|
NM_000251.3(MSH2):c.2233A>G (p.Ile745Val)
|
rs1573573674
|
|
|
NM_000251.3(MSH2):c.2236A>G (p.Ile746Val)
|
|
|
|
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del)
|
rs587779142
|
|
|
NM_000251.3(MSH2):c.2237T>A (p.Ile746Asn)
|
|
|
|
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)
|
rs1553369652
|
|
|
NM_000251.3(MSH2):c.223C>G (p.Leu75Val)
|
rs1573436246
|
|
|
NM_000251.3(MSH2):c.2241A>G (p.Ile747Met)
|
rs1060504411
|
|
|
NM_000251.3(MSH2):c.2242G>A (p.Asp748Asn)
|
rs267608007
|
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
|
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val)
|
rs1558521518
|
|
|
NM_000251.3(MSH2):c.2245_2259dup (p.Glu749_Gly753dup)
|
rs2104400429
|
|
|
NM_000251.3(MSH2):c.2252G>A (p.Gly751Glu)
|
rs1573573774
|
|
|
NM_000251.3(MSH2):c.2255G>A (p.Arg752Lys)
|
rs2104400733
|
|
|
NM_000251.3(MSH2):c.2258G>T (p.Gly753Val)
|
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2261C>T (p.Thr754Ile)
|
rs1553369680
|
|
|
NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)
|
|
|
|
NM_000251.3(MSH2):c.2263T>A (p.Ser755Thr)
|
rs2104401045
|
|
|
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)
|
rs750646335
|
|
|
NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)
|
rs750646335
|
|
|
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)
|
rs1553369686
|
|
|
NM_000251.3(MSH2):c.2269T>G (p.Tyr757Asp)
|
rs1553369693
|
|
|
NM_000251.3(MSH2):c.2270A>G (p.Tyr757Cys)
|
rs780448421
|
|
|
NM_000251.3(MSH2):c.2270A>T (p.Tyr757Phe)
|
rs780448421
|
|
|
NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn)
|
rs876658254
|
|
|
NM_000251.3(MSH2):c.2272G>C (p.Asp758His)
|
rs876658254
|
|
|
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)
|
rs876658254
|
|
|
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)
|
rs386833406
|
|
|
NM_000251.3(MSH2):c.2279T>C (p.Phe760Ser)
|
rs1573573888
|
|
|
NM_000251.3(MSH2):c.227A>G (p.Gln76Arg)
|
rs1281311713
|
|
|
NM_000251.3(MSH2):c.2282G>A (p.Gly761Glu)
|
|
|
|
NM_000251.3(MSH2):c.2282G>C (p.Gly761Ala)
|
rs876659937
|
|
|
NM_000251.3(MSH2):c.2282G>T (p.Gly761Val)
|
rs876659937
|
|
|
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser)
|
rs1558521698
|
|
|
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)
|
rs144412585
|
|
|
NM_000251.3(MSH2):c.2290T>C (p.Trp764Arg)
|
rs879254058
|
|
|
NM_000251.3(MSH2):c.2290T>G (p.Trp764Gly)
|
rs879254058
|
|
|
NM_000251.3(MSH2):c.2292G>C (p.Trp764Cys)
|
rs63751105
|
|
|
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)
|
rs63750368
|
|
|
NM_000251.3(MSH2):c.2293G>T (p.Ala765Ser)
|
|
|
|
NM_000251.3(MSH2):c.2294C>G (p.Ala765Gly)
|
rs1261458082
|
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
|
|
NM_000251.3(MSH2):c.229A>G (p.Ser77Gly)
|
|
|
|
NM_000251.3(MSH2):c.22A>G (p.Thr8Ala)
|
|
|
|
NM_000251.3(MSH2):c.22A>T (p.Thr8Ser)
|
rs876660332
|
|
|
NM_000251.3(MSH2):c.2303A>G (p.Glu768Gly)
|
rs1553369720
|
|
|
NM_000251.3(MSH2):c.2303A>T (p.Glu768Val)
|
rs1553369720
|
|
|
NM_000251.3(MSH2):c.2305T>C (p.Tyr769His)
|
rs1114167859
|
|
|
NM_000251.3(MSH2):c.230G>A (p.Ser77Asn)
|
|
|
|
NM_000251.3(MSH2):c.230G>T (p.Ser77Ile)
|
|
|
|
NM_000251.3(MSH2):c.2311G>A (p.Ala771Thr)
|
rs1667393512
|
|
|
NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)
|
|
|
|
NM_000251.3(MSH2):c.2314A>G (p.Thr772Ala)
|
rs1573574121
|
|
|
NM_000251.3(MSH2):c.2315C>A (p.Thr772Lys)
|
rs1263286428
|
|
|
NM_000251.3(MSH2):c.2315C>T (p.Thr772Ile)
|
rs1263286428
|
|
|
NM_000251.3(MSH2):c.2318A>T (p.Lys773Met)
|
|
|
|
NM_000251.3(MSH2):c.2319G>T (p.Lys773Asn)
|
rs745528772
|
|
|
NM_000251.3(MSH2):c.231T>A (p.Ser77Arg)
|
|
|
|
NM_000251.3(MSH2):c.231T>G (p.Ser77Arg)
|
rs1553350080
|
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
|
NM_000251.3(MSH2):c.2321T>G (p.Ile774Ser)
|
rs878853811
|
|
|
NM_000251.3(MSH2):c.2322T>G (p.Ile774Met)
|
rs56397910
|
|
|
NM_000251.3(MSH2):c.2323G>C (p.Gly775Arg)
|
|
|
|
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)
|
rs1558521842
|
|
|
NM_000251.3(MSH2):c.232G>C (p.Val78Leu)
|
|
|
|
NM_000251.3(MSH2):c.2333G>A (p.Cys778Tyr)
|
rs1667394664
|
|
|
NM_000251.3(MSH2):c.2334C>G (p.Cys778Trp)
|
rs63750618
|
|
|
NM_000251.3(MSH2):c.2335A>C (p.Met779Leu)
|
rs1114167843
|
|
|
NM_000251.3(MSH2):c.2335A>G (p.Met779Val)
|
rs1114167843
|
|
|
NM_000251.3(MSH2):c.2335A>T (p.Met779Leu)
|
rs1114167843
|
|
|
NM_000251.3(MSH2):c.2336T>G (p.Met779Arg)
|
|
|
|
NM_000251.3(MSH2):c.233T>C (p.Val78Ala)
|
rs892915951
|
|
|
NM_000251.3(MSH2):c.2341G>A (p.Ala781Thr)
|
rs1553369742
|
|
|
NM_000251.3(MSH2):c.2344A>G (p.Thr782Ala)
|
|
|
|
NM_000251.3(MSH2):c.2345C>T (p.Thr782Ile)
|
|
|
|
NM_000251.3(MSH2):c.2347C>G (p.His783Asp)
|
rs1553369748
|
|
|
NM_000251.3(MSH2):c.2347C>T (p.His783Tyr)
|
rs1553369748
|
|
|
NM_000251.3(MSH2):c.2350T>C (p.Phe784Leu)
|
rs1553369750
|
|
|
NM_000251.3(MSH2):c.2351T>G (p.Phe784Cys)
|
rs1553369756
|
|
|
NM_000251.3(MSH2):c.2352T>G (p.Phe784Leu)
|
rs1558521908
|
|
|
NM_000251.3(MSH2):c.2353C>T (p.His785Tyr)
|
rs1553369759
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2359C>G (p.Leu787Val)
|
rs1558521925
|
|
|
NM_000251.3(MSH2):c.235G>A (p.Val79Met)
|
rs1573436327
|
|
|
NM_000251.3(MSH2):c.2360T>C (p.Leu787Pro)
|
|
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
|
NM_000251.3(MSH2):c.2365G>A (p.Ala789Thr)
|
rs1553369769
|
|
|
NM_000251.3(MSH2):c.2365G>T (p.Ala789Ser)
|
rs1553369769
|
|
|
NM_000251.3(MSH2):c.2366C>A (p.Ala789Asp)
|
|
|
|
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)
|
rs876660292
|
|
|
NM_000251.3(MSH2):c.2366C>T (p.Ala789Val)
|
rs876660292
|
|
|
NM_000251.3(MSH2):c.2367_2368delinsTC (p.Ala789_Leu790=)
|
|
|
|
NM_000251.3(MSH2):c.236T>G (p.Val79Gly)
|
rs2103976738
|
|
|
NM_000251.3(MSH2):c.2372C>T (p.Ala791Val)
|
rs1558521964
|
|
|
NM_000251.3(MSH2):c.2374A>G (p.Asn792Asp)
|
|
|
|
NM_000251.3(MSH2):c.2374A>T (p.Asn792Tyr)
|
rs2104406360
|
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
|
NM_000251.3(MSH2):c.2375A>T (p.Asn792Ile)
|
rs587782891
|
|
|
NM_000251.3(MSH2):c.2377C>A (p.Gln793Lys)
|
rs730881769
|
|
|
NM_000251.3(MSH2):c.2378A>C (p.Gln793Pro)
|
rs876660291
|
|
|
NM_000251.3(MSH2):c.2378A>G (p.Gln793Arg)
|
rs876660291
|
|
|
NM_000251.3(MSH2):c.2379G>C (p.Gln793His)
|
rs767520406
|
|
|
NM_000251.3(MSH2):c.237_238delinsAG (p.Leu80Val)
|
|
|
|
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)
|
rs1553369778
|
|
|
NM_000251.3(MSH2):c.2380A>G (p.Ile794Val)
|
|
|
|
NM_000251.3(MSH2):c.2380A>T (p.Ile794Leu)
|
rs1553369778
|
|
|
NM_000251.3(MSH2):c.2381T>A (p.Ile794Lys)
|
rs1553369781
|
|
|
NM_000251.3(MSH2):c.2383C>A (p.Pro795Thr)
|
rs2104406872
|
|
|
NM_000251.3(MSH2):c.2384C>A (p.Pro795Gln)
|
rs1558521999
|
|
|
NM_000251.3(MSH2):c.2386A>T (p.Thr796Ser)
|
rs876660738
|
|
|
NM_000251.3(MSH2):c.2387C>A (p.Thr796Asn)
|
rs863224641
|
|
|
NM_000251.3(MSH2):c.238C>G (p.Leu80Val)
|
rs1672550932
|
|
|
NM_000251.3(MSH2):c.238C>T (p.Leu80Phe)
|
|
|
|
NM_000251.3(MSH2):c.2392AAT[1] (p.Asn799del)
|
rs1573574468
|
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
|
NM_000251.3(MSH2):c.2394T>A (p.Asn798Lys)
|
rs750498919
|
|
|
NM_000251.3(MSH2):c.2396A>G (p.Asn799Ser)
|
rs2104407549
|
|
|
NM_000251.3(MSH2):c.2397T>A (p.Asn799Lys)
|
rs368988823
|
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
|
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys)
|
rs17217716
|
|
|
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)
|
rs17217716
|
|
|
NM_000251.3(MSH2):c.2401C>A (p.His801Asn)
|
|
|
|
NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)
|
rs1573574512
|
|
|
NM_000251.3(MSH2):c.2402A>G (p.His801Arg)
|
rs1114167875
|
|
|
NM_000251.3(MSH2):c.2402A>T (p.His801Leu)
|
rs1114167875
|
|
|
NM_000251.3(MSH2):c.2404G>T (p.Val802Phe)
|
|
|
|
NM_000251.3(MSH2):c.2405T>C (p.Val802Ala)
|
|
|
|
NM_000251.3(MSH2):c.2408C>T (p.Thr803Ile)
|
rs786202362
|
|
|
NM_000251.3(MSH2):c.2410G>A (p.Ala804Thr)
|
rs1060502005
|
|
|
NM_000251.3(MSH2):c.2412A>G (p.Ala804=)
|
rs141523959
|
|
|
NM_000251.3(MSH2):c.2413C>G (p.Leu805Val)
|
rs779182536
|
|
|
NM_000251.3(MSH2):c.2414T>G (p.Leu805Arg)
|
rs1667400871
|
|
|
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)
|
rs758889557
|
|
|
NM_000251.3(MSH2):c.2419A>G (p.Thr807Ala)
|
rs1667401329
|
|
|
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)
|
rs41295294
|
|
|
NM_000251.3(MSH2):c.2420C>T (p.Thr807Ile)
|
rs41295294
|
|
|
NM_000251.3(MSH2):c.2426A>C (p.Glu809Ala)
|
rs1374788237
|
|
|
NM_000251.3(MSH2):c.2429C>A (p.Thr810Asn)
|
rs1667402259
|
|
|
NM_000251.3(MSH2):c.2429C>T (p.Thr810Ile)
|
rs1667402259
|
|
|
NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)
|
rs1064793491
|
|
|
NM_000251.3(MSH2):c.2433_2435del (p.Leu811_Thr812delinsPhe)
|
rs1667402513
|
|
|
NM_000251.3(MSH2):c.2434A>T (p.Thr812Ser)
|
|
|
|
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)
|
rs1553369826
|
|
|
NM_000251.3(MSH2):c.2435C>T (p.Thr812Ile)
|
rs1553369826
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.2439G>T (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.243T>A (p.Ser81Arg)
|
|
|
|
NM_000251.3(MSH2):c.2440C>A (p.Leu814Ile)
|
rs1667403044
|
|
|
NM_000251.3(MSH2):c.2443T>C (p.Tyr815His)
|
rs1424156408
|
|
|
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys)
|
rs1667403267
|
|
|
NM_000251.3(MSH2):c.2446C>G (p.Gln816Glu)
|
rs63749917
|
|
|
NM_000251.3(MSH2):c.2448G>A (p.Gln816=)
|
rs1573574712
|
|
|
NM_000251.3(MSH2):c.2453A>C (p.Lys818Thr)
|
rs2104410075
|
|
|
NM_000251.3(MSH2):c.2453A>G (p.Lys818Arg)
|
|
|
|
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu)
|
rs1369739730
|
|
|
NM_000251.3(MSH2):c.2458+3A>C
|
rs761709497
|
|
|
NM_000251.3(MSH2):c.2458+3A>G
|
rs761709497
|
|
|
NM_000251.3(MSH2):c.2458+4T>G
|
rs1038735071
|
|
|
NM_000251.3(MSH2):c.2458+5G>A
|
rs1667404666
|
|
|
NM_000251.3(MSH2):c.2458G>C (p.Gly820Arg)
|
|
|
|
NM_000251.3(MSH2):c.2458G>T (p.Gly820Cys)
|
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
|
NM_000251.3(MSH2):c.2459-3T>G
|
rs587781988
|
|
|
NM_000251.3(MSH2):c.2459-5_2459-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCCCAAATTTCTT
|
|
|
|
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)
|
rs794729229
|
|
|
NM_000251.3(MSH2):c.2459G>C (p.Gly820Ala)
|
rs794729229
|
|
|
NM_000251.3(MSH2):c.245A>G (p.Lys82Arg)
|
rs1672551774
|
|
|
NM_000251.3(MSH2):c.2461G>A (p.Val821Ile)
|
rs1573578366
|
|
|
NM_000251.3(MSH2):c.2461G>C (p.Val821Leu)
|
rs1573578366
|
|
|
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)
|
rs1573578373
|
|
|
NM_000251.3(MSH2):c.2463C>T (p.Val821=)
|
rs886056136
|
|
|
NM_000251.3(MSH2):c.2465G>A (p.Cys822Tyr)
|
|
|
|
NM_000251.3(MSH2):c.2466T>G (p.Cys822Trp)
|
rs63749846
|
|
|
NM_000251.3(MSH2):c.2467G>A (p.Asp823Asn)
|
rs2104434833
|
|
|
NM_000251.3(MSH2):c.2468A>T (p.Asp823Val)
|
|
|
|
NM_000251.3(MSH2):c.2469T>A (p.Asp823Glu)
|
|
|
|
NM_000251.3(MSH2):c.2469T>G (p.Asp823Glu)
|
rs1667490450
|
|
|
NM_000251.3(MSH2):c.246A>T (p.Lys82Asn)
|
rs1553350100
|
|
|
NM_000251.3(MSH2):c.2470C>G (p.Gln824Glu)
|
rs63750623
|
|
|
NM_000251.3(MSH2):c.2471A>G (p.Gln824Arg)
|
|
|
|
NM_000251.3(MSH2):c.2473A>G (p.Ser825Gly)
|
rs1553370314
|
|
|
NM_000251.3(MSH2):c.2477T>C (p.Phe826Ser)
|
|
|
|
NM_000251.3(MSH2):c.2479G>A (p.Gly827Arg)
|
rs63750478
|
|
|
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg)
|
rs63750478
|
|
|
NM_000251.3(MSH2):c.247A>C (p.Met83Leu)
|
rs766196837
|
|
|
NM_000251.3(MSH2):c.247A>G (p.Met83Val)
|
rs766196837
|
|
|
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu)
|
rs2104435371
|
|
|
NM_000251.3(MSH2):c.2482A>G (p.Ile828Val)
|
rs2104435467
|
|
|
NM_000251.3(MSH2):c.2483T>G (p.Ile828Ser)
|
rs753067992
|
|
|
NM_000251.3(MSH2):c.2488G>A (p.Val830Ile)
|
|
|
|
NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)
|
|
|
|
NM_000251.3(MSH2):c.2489T>C (p.Val830Ala)
|
rs1553370328
|
|
|
NM_000251.3(MSH2):c.248T>C (p.Met83Thr)
|
rs1573436408
|
|
|
NM_000251.3(MSH2):c.248T>G (p.Met83Arg)
|
|
|
|
NM_000251.3(MSH2):c.2491G>C (p.Ala831Pro)
|
rs1573578511
|
|
|
NM_000251.3(MSH2):c.2491G>T (p.Ala831Ser)
|
rs1573578511
|
|
|
NM_000251.3(MSH2):c.2494G>A (p.Glu832Lys)
|
rs863225396
|
|
|
NM_000251.3(MSH2):c.2497C>G (p.Leu833Val)
|
|
|
|
NM_000251.3(MSH2):c.2497C>T (p.Leu833Phe)
|
rs1667492746
|
|
|
NM_000251.3(MSH2):c.2498T>A (p.Leu833His)
|
rs1573578539
|
|
|
NM_000251.3(MSH2):c.249G>A (p.Met83Ile)
|
|
|
|
NM_000251.3(MSH2):c.249G>C (p.Met83Ile)
|
rs1672552199
|
|
|
NM_000251.3(MSH2):c.2501C>G (p.Ala834Gly)
|
|
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
|
NM_000251.3(MSH2):c.2504A>T (p.Asn835Ile)
|
|
|
|
NM_000251.3(MSH2):c.2506T>A (p.Phe836Ile)
|
rs1553370345
|
|
|
NM_000251.3(MSH2):c.2508C>G (p.Phe836Leu)
|
|
|
|
NM_000251.3(MSH2):c.2509C>A (p.Pro837Thr)
|
|
|
|
NM_000251.3(MSH2):c.2509C>T (p.Pro837Ser)
|
rs1198289499
|
|
|
NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)
|
rs1573436418
|
|
|
NM_000251.3(MSH2):c.2513A>C (p.Lys838Thr)
|
rs2104436776
|
|
|
NM_000251.3(MSH2):c.2515C>A (p.His839Asn)
|
|
|
|
NM_000251.3(MSH2):c.2515C>G (p.His839Asp)
|
rs876659466
|
|
|
NM_000251.3(MSH2):c.2515C>T (p.His839Tyr)
|
|
|
|
NM_000251.3(MSH2):c.2516A>C (p.His839Pro)
|
rs63750027
|
|
|
NM_000251.3(MSH2):c.2516A>T (p.His839Leu)
|
rs63750027
|
|
|
NM_000251.3(MSH2):c.2518G>A (p.Val840Ile)
|
rs878853812
|
|
|
NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)
|
rs1064794561
|
|
|
NM_000251.3(MSH2):c.251A>G (p.Asn84Ser)
|
rs2103977605
|
|
|
NM_000251.3(MSH2):c.251A>T (p.Asn84Ile)
|
rs2103977605
|
|
|
NM_000251.3(MSH2):c.2521A>G (p.Ile841Val)
|
rs1573578666
|
|
|
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)
|
rs1275767178
|
|
|
NM_000251.3(MSH2):c.2523A>G (p.Ile841Met)
|
rs922747063
|
|
|
NM_000251.3(MSH2):c.2524G>A (p.Glu842Lys)
|
rs2104437384
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
|
NM_000251.3(MSH2):c.2527T>C (p.Cys843Arg)
|
rs1667495338
|
|
|
NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly)
|
rs1667495338
|
|
|
NM_000251.3(MSH2):c.2528G>C (p.Cys843Ser)
|
rs747700106
|
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
|
NM_000251.3(MSH2):c.2536_2541del (p.Gln846_Lys847del)
|
rs879254133
|
|
|
NM_000251.3(MSH2):c.253T>C (p.Phe85Leu)
|
rs2103977796
|
|
|
NM_000251.3(MSH2):c.2541A>T (p.Lys847Asn)
|
|
|
|
NM_000251.3(MSH2):c.2543C>T (p.Ala848Val)
|
rs1667496559
|
|
|
NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)
|
rs1667497027
|
|
|
NM_000251.3(MSH2):c.254T>C (p.Phe85Ser)
|
rs2103977842
|
|
|
NM_000251.3(MSH2):c.2551C>G (p.Leu851Val)
|
rs267608015
|
|
|
NM_000251.3(MSH2):c.2551C>T (p.Leu851Phe)
|
rs267608015
|
|
|
NM_000251.3(MSH2):c.2553T>G (p.Leu851=)
|
rs1553370386
|
|
|
NM_000251.3(MSH2):c.2554G>A (p.Glu852Lys)
|
rs587779966
|
|
|
NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del)
|
rs766906365
|
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
|
NM_000251.3(MSH2):c.2563C>G (p.Gln855Glu)
|
rs1553370404
|
|
|
NM_000251.3(MSH2):c.2566T>C (p.Tyr856His)
|
rs786203818
|
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
|
NM_000251.3(MSH2):c.2567A>T (p.Tyr856Phe)
|
rs587779150
|
|
|
NM_000251.3(MSH2):c.2570T>C (p.Ile857Thr)
|
rs2104439312
|
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
|
NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)
|
|
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
|
NM_000251.3(MSH2):c.2576A>G (p.Glu859Gly)
|
rs1553370422
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2578T>A (p.Ser860Thr)
|
|
|
|
NM_000251.3(MSH2):c.257A>G (p.Glu86Gly)
|
rs1573436455
|
|
|
NM_000251.3(MSH2):c.2582A>C (p.Gln861Pro)
|
rs1313098392
|
|
|
NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)
|
rs1313098392
|
|
|
NM_000251.3(MSH2):c.2584G>A (p.Gly862Arg)
|
rs876660297
|
|
|
NM_000251.3(MSH2):c.2585G>T (p.Gly862Val)
|
rs1216558739
|
|
|
NM_000251.3(MSH2):c.258A>T (p.Glu86Asp)
|
|
|
|
NM_000251.3(MSH2):c.2590G>A (p.Asp864Asn)
|
rs1553370439
|
|
|
NM_000251.3(MSH2):c.2590_2592del (p.Asp864del)
|
rs1667501219
|
|
|
NM_000251.3(MSH2):c.2591A>C (p.Asp864Ala)
|
rs863224642
|
|
|
NM_000251.3(MSH2):c.2591A>T (p.Asp864Val)
|
|
|
|
NM_000251.3(MSH2):c.2594T>A (p.Ile865Asn)
|
rs549759248
|
|
|
NM_000251.3(MSH2):c.2595C>G (p.Ile865Met)
|
|
|
|
NM_000251.3(MSH2):c.2595_2597del (p.Ile865del)
|
rs759912716
|
|
|
NM_000251.3(MSH2):c.2596A>T (p.Met866Leu)
|
rs1553370453
|
|
|
NM_000251.3(MSH2):c.2597T>C (p.Met866Thr)
|
|
|
|
NM_000251.3(MSH2):c.25C>G (p.Leu9Val)
|
rs1672231681
|
|
|
NM_000251.3(MSH2):c.2600A>T (p.Glu867Val)
|
|
|
|
NM_000251.3(MSH2):c.2601A>C (p.Glu867Asp)
|
|
|
|
NM_000251.3(MSH2):c.2602C>G (p.Pro868Ala)
|
rs63751400
|
|
|
NM_000251.3(MSH2):c.2603C>T (p.Pro868Leu)
|
rs1458784088
|
|
|
NM_000251.3(MSH2):c.2606C>G (p.Ala869Gly)
|
|
|
|
NM_000251.3(MSH2):c.2606C>T (p.Ala869Val)
|
rs730881772
|
|
|
NM_000251.3(MSH2):c.2608G>A (p.Ala870Thr)
|
|
|
|
NM_000251.3(MSH2):c.2608_2609delinsAA (p.Ala870Lys)
|
|
|
|
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)
|
rs587781447
|
|
|
NM_000251.3(MSH2):c.260C>T (p.Ser87Phe)
|
rs587781447
|
|
|
NM_000251.3(MSH2):c.2611A>G (p.Lys871Glu)
|
rs1667503359
|
|
|
NM_000251.3(MSH2):c.2613G>T (p.Lys871Asn)
|
rs1156823520
|
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
|
NM_000251.3(MSH2):c.2617T>C (p.Cys873Arg)
|
rs63750795
|
|
|
NM_000251.3(MSH2):c.2619C>G (p.Cys873Trp)
|
rs2104441416
|
|
|
NM_000251.3(MSH2):c.2620T>C (p.Tyr874His)
|
|
|
|
NM_000251.3(MSH2):c.2620T>G (p.Tyr874Asp)
|
rs879254152
|
|
|
NM_000251.3(MSH2):c.2623C>G (p.Leu875Val)
|
|
|
|
NM_000251.3(MSH2):c.2626G>A (p.Glu876Lys)
|
|
|
|
NM_000251.3(MSH2):c.2627A>G (p.Glu876Gly)
|
rs1553370474
|
|
|
NM_000251.3(MSH2):c.2628A>T (p.Glu876Asp)
|
rs1271303836
|
|
|
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys)
|
rs1573579234
|
|
|
NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)
|
rs749543152
|
|
|
NM_000251.3(MSH2):c.2633A>G (p.Glu878Gly)
|
rs1573579250
|
|
|
NM_000251.3(MSH2):c.2634+4T>C
|
rs1553370486
|
|
|
NM_000251.3(MSH2):c.2634+4T>G
|
rs1553370486
|
|
|
NM_000251.3(MSH2):c.2634+5del
|
|
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
|
NM_000251.3(MSH2):c.2635-10T>C
|
|
|
|
NM_000251.3(MSH2):c.2635-12C>G
|
rs1436357692
|
|
|
NM_000251.3(MSH2):c.2635-16T>G
|
rs2104458734
|
|
|
NM_000251.3(MSH2):c.2635-6T>A
|
|
|
|
NM_000251.3(MSH2):c.2635-6T>C
|
|
|
|
NM_000251.3(MSH2):c.2635C>A (p.Gln879Lys)
|
rs63751469
|
|
|
NM_000251.3(MSH2):c.2637A>C (p.Gln879His)
|
|
|
|
NM_000251.3(MSH2):c.2637A>G (p.Gln879=)
|
rs1553370836
|
|
|
NM_000251.3(MSH2):c.2639G>C (p.Gly880Ala)
|
rs1667576915
|
|
|
NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)
|
rs1672553516
|
|
|
NM_000251.3(MSH2):c.2640T>A (p.Gly880=)
|
|
|
|
NM_000251.3(MSH2):c.2641G>C (p.Glu881Gln)
|
rs876660450
|
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
|
NM_000251.3(MSH2):c.2648T>C (p.Ile883Thr)
|
rs1064796682
|
|
|
NM_000251.3(MSH2):c.2650A>G (p.Ile884Val)
|
rs774732579
|
|
|
NM_000251.3(MSH2):c.2653C>G (p.Gln885Glu)
|
rs63750808
|
|
|
NM_000251.3(MSH2):c.2654A>G (p.Gln885Arg)
|
rs2104459645
|
|
|
NM_000251.3(MSH2):c.2655G>C (p.Gln885His)
|
rs1057521018
|
|
|
NM_000251.3(MSH2):c.265G>C (p.Val89Leu)
|
rs587782586
|
|
|
NM_000251.3(MSH2):c.2661C>A (p.Phe887Leu)
|
rs1290935051
|
|
|
NM_000251.3(MSH2):c.2662C>G (p.Leu888Val)
|
rs1667578174
|
|
|
NM_000251.3(MSH2):c.2666C>T (p.Ser889Phe)
|
rs1553370845
|
|
|
NM_000251.3(MSH2):c.2668A>G (p.Lys890Glu)
|
rs1114167880
|
|
|
NM_000251.3(MSH2):c.266T>G (p.Val89Gly)
|
rs876659747
|
|
|
NM_000251.3(MSH2):c.2670G>C (p.Lys890Asn)
|
|
|
|
NM_000251.3(MSH2):c.2680A>C (p.Met894Leu)
|
rs1558526023
|
|
|
NM_000251.3(MSH2):c.2680A>T (p.Met894Leu)
|
rs1558526023
|
|
|
NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)
|
rs1558526026
|
|
|
NM_000251.3(MSH2):c.2682G>A (p.Met894Ile)
|
rs1573582532
|
|
|
NM_000251.3(MSH2):c.2683C>G (p.Pro895Ala)
|
|
|
|
NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2686T>G (p.Phe896Val)
|
rs1558526036
|
|
|
NM_000251.3(MSH2):c.2690C>G (p.Thr897Ser)
|
rs2104460600
|
|
|
NM_000251.3(MSH2):c.2691T>A (p.Thr897=)
|
rs148653184
|
|
|
NM_000251.3(MSH2):c.2691dup (p.Glu898Ter)
|
rs2104460657
|
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
|
NM_000251.3(MSH2):c.2698T>A (p.Ser900Thr)
|
rs2104460815
|
|
|
NM_000251.3(MSH2):c.2698T>C (p.Ser900Pro)
|
|
|
|
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)
|
rs878853814
|
|
|
NM_000251.3(MSH2):c.269A>G (p.Lys90Arg)
|
rs2103978884
|
|
|
NM_000251.3(MSH2):c.26T>G (p.Leu9Arg)
|
rs1573422744
|
|
|
NM_000251.3(MSH2):c.2701G>C (p.Glu901Gln)
|
rs2104460893
|
|
|
NM_000251.3(MSH2):c.2701GAA[1] (p.Glu902del)
|
|
|
|
NM_000251.3(MSH2):c.2704G>T (p.Glu902Ter)
|
rs867671639
|
|
|
NM_000251.3(MSH2):c.2705A>G (p.Glu902Gly)
|
rs1553370856
|
|
|
NM_000251.3(MSH2):c.2706A>C (p.Glu902Asp)
|
rs876660824
|
|
|
NM_000251.3(MSH2):c.2708A>G (p.Asn903Ser)
|
rs876658389
|
|
|
NM_000251.3(MSH2):c.2708A>T (p.Asn903Ile)
|
|
|
|
NM_000251.3(MSH2):c.2710A>T (p.Ile904Phe)
|
rs1463743654
|
|
|
NM_000251.3(MSH2):c.2711T>A (p.Ile904Asn)
|
rs1573582638
|
|
|
NM_000251.3(MSH2):c.2711_2713del (p.Ile904del)
|
|
|
|
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)
|
rs267608022
|
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
|
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)
|
rs1558457163
|
|
|
NM_000251.3(MSH2):c.2722T>A (p.Leu908Ile)
|
rs1085308059
|
|
|
NM_000251.3(MSH2):c.2723T>A (p.Leu908Ter)
|
rs2104461361
|
|
|
NM_000251.3(MSH2):c.2725A>C (p.Lys909Gln)
|
rs879254253
|
|
|
NM_000251.3(MSH2):c.2725A>G (p.Lys909Glu)
|
rs879254253
|
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
|
NM_000251.3(MSH2):c.2728C>G (p.Gln910Glu)
|
rs775130557
|
|
|
NM_000251.3(MSH2):c.2729A>G (p.Gln910Arg)
|
rs1553370878
|
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
|
|
|
NM_000251.3(MSH2):c.272A>G (p.Asp91Gly)
|
rs876660914
|
|
|
NM_000251.3(MSH2):c.272A>T (p.Asp91Val)
|
rs876660914
|
|
|
NM_000251.3(MSH2):c.2734A>C (p.Lys912Gln)
|
rs1060501998
|
|
|
NM_000251.3(MSH2):c.2734A>G (p.Lys912Glu)
|
rs1060501998
|
|
|
NM_000251.3(MSH2):c.2735_2736del (p.Lys912fs)
|
rs1667581727
|
|
|
NM_000251.3(MSH2):c.2736del (p.Ala913fs)
|
rs1667581727
|
|
|
NM_000251.3(MSH2):c.2737G>T (p.Ala913Ser)
|
|
|
|
NM_000251.3(MSH2):c.2738C>G (p.Ala913Gly)
|
rs1060502026
|
|
|
NM_000251.3(MSH2):c.2738C>T (p.Ala913Val)
|
rs1060502026
|
|
|
NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter)
|
rs267608024
|
|
|
NM_000251.3(MSH2):c.2741A>G (p.Glu914Gly)
|
rs1558526149
|
|
|
NM_000251.3(MSH2):c.2743G>A (p.Val915Ile)
|
|
|
|
NM_000251.3(MSH2):c.2743G>C (p.Val915Leu)
|
rs1553370884
|
|
|
NM_000251.3(MSH2):c.2743G>T (p.Val915Leu)
|
rs1553370884
|
|
|
NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)
|
rs1399941088
|
|
|
NM_000251.3(MSH2):c.2746A>G (p.Ile916Val)
|
rs751216225
|
|
|
NM_000251.3(MSH2):c.2746A>T (p.Ile916Leu)
|
rs751216225
|
|
|
NM_000251.3(MSH2):c.2748A>G (p.Ile916Met)
|
rs2104462090
|
|
|
NM_000251.3(MSH2):c.274C>A (p.Leu92Ile)
|
rs587779154
|
|
|
NM_000251.3(MSH2):c.274C>T (p.Leu92Phe)
|
rs587779154
|
|
|
NM_000251.3(MSH2):c.2750C>G (p.Ala917Gly)
|
|
|
|
NM_000251.3(MSH2):c.2750del (p.Ala917fs)
|
rs2104462170
|
|
|
NM_000251.3(MSH2):c.2753A>G (p.Lys918Arg)
|
|
|
|
NM_000251.3(MSH2):c.2754G>C (p.Lys918Asn)
|
rs1553370893
|
|
|
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn)
|
rs1553370893
|
|
|
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp)
|
rs1573582795
|
|
|
NM_000251.3(MSH2):c.2756A>G (p.Asn919Ser)
|
|
|
|
NM_000251.3(MSH2):c.2756A>T (p.Asn919Ile)
|
rs1667583110
|
|
|
NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del)
|
rs1573582800
|
|
|
NM_000251.3(MSH2):c.2759A>G (p.Asn920Ser)
|
rs1667583292
|
|
|
NM_000251.3(MSH2):c.275T>C (p.Leu92Pro)
|
rs1387584638
|
|
|
NM_000251.3(MSH2):c.2763C>G (p.Ser921Arg)
|
|
|
|
NM_000251.3(MSH2):c.2765T>C (p.Phe922Ser)
|
rs1667583417
|
|
|
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)
|
rs55859129
|
|
|
NM_000251.3(MSH2):c.2766_2767inv (p.Val923Ile)
|
|
|
|
NM_000251.3(MSH2):c.2767G>A (p.Val923Ile)
|
rs561565629
|
|
|
NM_000251.3(MSH2):c.2768T>C (p.Val923Ala)
|
rs146421227
|
|
|
NM_000251.3(MSH2):c.2772T>A (p.Asn924Lys)
|
|
|
|
NM_000251.3(MSH2):c.2776A>C (p.Ile926Leu)
|
rs995312903
|
|
|
NM_000251.3(MSH2):c.2776A>G (p.Ile926Val)
|
rs995312903
|
|
|
NM_000251.3(MSH2):c.2777T>C (p.Ile926Thr)
|
|
|
|
NM_000251.3(MSH2):c.2777T>G (p.Ile926Ser)
|
|
|
|
NM_000251.3(MSH2):c.2779A>G (p.Ile927Val)
|
|
|
|
NM_000251.3(MSH2):c.277C>G (p.Leu93Val)
|
rs63751429
|
|
|
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)
|
rs63751429
|
|
|
NM_000251.3(MSH2):c.2780T>C (p.Ile927Thr)
|
rs1667584347
|
|
|
NM_000251.3(MSH2):c.2781T>G (p.Ile927Met)
|
rs1667584495
|
|
|
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro)
|
rs587781852
|
|
|
NM_000251.3(MSH2):c.2782T>G (p.Ser928Ala)
|
rs587781852
|
|
|
NM_000251.3(MSH2):c.2783C>A (p.Ser928Ter)
|
|
|
|
NM_000251.3(MSH2):c.2786G>C (p.Arg929Pro)
|
rs587779967
|
|
|
NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)
|
rs587779967
|
|
|
NM_000251.3(MSH2):c.2789T>A (p.Ile930Lys)
|
rs587783054
|
|
|
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)
|
rs587779155
|
|
|
NM_000251.3(MSH2):c.2792A>G (p.Lys931Arg)
|
rs267608023
|
|
|
NM_000251.3(MSH2):c.2792_2793del (p.Lys931fs)
|
rs1667585271
|
|
|
NM_000251.3(MSH2):c.2797dup (p.Thr933fs)
|
rs587779156
|
|
|
NM_000251.3(MSH2):c.2798C>G (p.Thr933Ser)
|
rs587779968
|
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
|
NM_000251.3(MSH2):c.2803T>C (p.Ter935Arg)
|
rs1573582999
|
|
|
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu)
|
rs876658335
|
|
|
NM_000251.3(MSH2):c.282G>A (p.Leu94=)
|
rs752387348
|
|
|
NM_000251.3(MSH2):c.283G>A (p.Val95Ile)
|
rs1323488764
|
|
|
NM_000251.3(MSH2):c.284T>C (p.Val95Ala)
|
rs2103979939
|
|
|
NM_000251.3(MSH2):c.287G>T (p.Arg96Leu)
|
rs63750002
|
|
|
NM_000251.3(MSH2):c.289C>A (p.Gln97Lys)
|
|
|
|
NM_000251.3(MSH2):c.289C>G (p.Gln97Glu)
|
rs63750970
|
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
|
NM_000251.3(MSH2):c.290A>C (p.Gln97Pro)
|
rs1558457235
|
|
|
NM_000251.3(MSH2):c.290A>G (p.Gln97Arg)
|
|
|
|
NM_000251.3(MSH2):c.291G>T (p.Gln97His)
|
rs1064794792
|
|
|
NM_000251.3(MSH2):c.297A>C (p.Arg99Ser)
|
rs587782283
|
|
|
NM_000251.3(MSH2):c.297A>T (p.Arg99Ser)
|
rs587782283
|
|
|
NM_000251.3(MSH2):c.298G>A (p.Val100Ile)
|
rs1573436784
|
|
|
NM_000251.3(MSH2):c.298G>T (p.Val100Phe)
|
rs1573436784
|
|
|
NM_000251.3(MSH2):c.299T>C (p.Val100Ala)
|
rs2103981191
|
|
|
NM_000251.3(MSH2):c.2T>A (p.Met1Lys)
|
|
|
|
NM_000251.3(MSH2):c.2T>C (p.Met1Thr)
|
rs876658825
|
|
|
NM_000251.3(MSH2):c.2T>G (p.Met1Arg)
|
rs876658825
|
|
|
NM_000251.3(MSH2):c.301G>C (p.Glu101Gln)
|
rs63750318
|
|
|
NM_000251.3(MSH2):c.302A>G (p.Glu101Gly)
|
rs1573436801
|
|
|
NM_000251.3(MSH2):c.303A>C (p.Glu101Asp)
|
|
|
|
NM_000251.3(MSH2):c.307T>C (p.Tyr103His)
|
rs587780688
|
|
|
NM_000251.3(MSH2):c.308A>C (p.Tyr103Ser)
|
rs63751173
|
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
|
NM_000251.3(MSH2):c.308A>T (p.Tyr103Phe)
|
rs63751173
|
|
|
NM_000251.3(MSH2):c.311A>G (p.Lys104Arg)
|
|
|
|
NM_000251.3(MSH2):c.312G>C (p.Lys104Asn)
|
rs372972328
|
|
|
NM_000251.3(MSH2):c.314A>G (p.Asn105Ser)
|
rs1558457336
|
|
|
NM_000251.3(MSH2):c.317G>C (p.Arg106Thr)
|
rs41295286
|
|
|
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)
|
rs876658935
|
|
|
NM_000251.3(MSH2):c.320C>T (p.Ala107Val)
|
rs876658935
|
|
|
NM_000251.3(MSH2):c.322G>A (p.Gly108Arg)
|
rs2103982656
|
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
|
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)
|
rs749545338
|
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
|
NM_000251.3(MSH2):c.32T>C (p.Leu11Ser)
|
rs2103868483
|
|
|
NM_000251.3(MSH2):c.331G>A (p.Ala111Thr)
|
rs1553350215
|
|
|
NM_000251.3(MSH2):c.331G>T (p.Ala111Ser)
|
rs1553350215
|
|
|
NM_000251.3(MSH2):c.332C>G (p.Ala111Gly)
|
rs1672561306
|
|
|
NM_000251.3(MSH2):c.332C>T (p.Ala111Val)
|
rs1672561306
|
|
|
NM_000251.3(MSH2):c.335C>T (p.Ser112Phe)
|
rs769215192
|
|
|
NM_000251.3(MSH2):c.337A>C (p.Lys113Gln)
|
|
|
|
NM_000251.3(MSH2):c.337A>G (p.Lys113Glu)
|
rs1573437064
|
|
|
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)
|
rs1672561938
|
|
|
NM_000251.3(MSH2):c.339G>C (p.Lys113Asn)
|
rs35898375
|
|
|
NM_000251.3(MSH2):c.343A>T (p.Asn115Tyr)
|
rs1553350228
|
|
|
NM_000251.3(MSH2):c.347A>T (p.Asp116Val)
|
rs1035655051
|
|
|
NM_000251.3(MSH2):c.348T>A (p.Asp116Glu)
|
|
|
|
NM_000251.3(MSH2):c.349T>C (p.Trp117Arg)
|
|
|
|
NM_000251.3(MSH2):c.349T>G (p.Trp117Gly)
|
rs1553350243
|
|
|
NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)
|
rs917968387
|
|
|
NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)
|
rs917968387
|
|
|
NM_000251.3(MSH2):c.350G>T (p.Trp117Leu)
|
rs786202083
|
|
|
NM_000251.3(MSH2):c.357G>T (p.Leu119Phe)
|
|
|
|
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)
|
rs1553348722
|
|
|
NM_000251.3(MSH2):c.361T>A (p.Tyr121Asn)
|
rs878853816
|
|
|
NM_000251.3(MSH2):c.364A>C (p.Lys122Gln)
|
rs374127044
|
|
|
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)
|
rs374127044
|
|
|
NM_000251.3(MSH2):c.365A>T (p.Lys122Met)
|
rs863224643
|
|
|
NM_000251.3(MSH2):c.366+4A>G
|
|
|
|
NM_000251.3(MSH2):c.366+4del
|
rs2103986055
|
|
|
NM_000251.3(MSH2):c.366+6T>G
|
|
|
|
NM_000251.3(MSH2):c.366G>C (p.Lys122Asn)
|
rs2103985797
|
|
|
NM_000251.3(MSH2):c.367-3T>A
|
|
|
|
NM_000251.3(MSH2):c.367-3T>G
|
rs1558458845
|
|
|
NM_000251.3(MSH2):c.367-5C>G
|
rs587782414
|
|
|
NM_000251.3(MSH2):c.367G>A (p.Ala123Thr)
|
rs768313992
|
|
|
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)
|
rs1558451303
|
|
|
NM_000251.3(MSH2):c.36G>T (p.Glu12Asp)
|
|
|
|
NM_000251.3(MSH2):c.370T>A (p.Ser124Thr)
|
rs2104016885
|
|
|
NM_000251.3(MSH2):c.371C>G (p.Ser124Cys)
|
rs1553350635
|
|
|
NM_000251.3(MSH2):c.371C>T (p.Ser124Phe)
|
rs1553350635
|
|
|
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr)
|
rs761767467
|
|
|
NM_000251.3(MSH2):c.373_375del (p.Pro125del)
|
rs2104017035
|
|
|
NM_000251.3(MSH2):c.374C>G (p.Pro125Arg)
|
|
|
|
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu)
|
rs876659113
|
|
|
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg)
|
rs767371843
|
|
|
NM_000251.3(MSH2):c.377G>A (p.Gly126Asp)
|
rs1672655495
|
|
|
NM_000251.3(MSH2):c.377G>T (p.Gly126Val)
|
|
|
|
NM_000251.3(MSH2):c.379A>T (p.Asn127Tyr)
|
|
|
|
NM_000251.3(MSH2):c.380A>C (p.Asn127Thr)
|
rs17217772
|
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
|
NM_000251.3(MSH2):c.388C>G (p.Gln130Glu)
|
rs1060501989
|
|
|
NM_000251.3(MSH2):c.389A>G (p.Gln130Arg)
|
|
|
|
NM_000251.3(MSH2):c.38G>C (p.Ser13Thr)
|
|
|
|
NM_000251.3(MSH2):c.390G>C (p.Gln130His)
|
rs1558458954
|
|
|
NM_000251.3(MSH2):c.390G>T (p.Gln130His)
|
|
|
|
NM_000251.3(MSH2):c.391T>G (p.Phe131Val)
|
rs755423698
|
|
|
NM_000251.3(MSH2):c.392T>C (p.Phe131Ser)
|
|
|
|
NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)
|
rs984353312
|
|
|
NM_000251.3(MSH2):c.39C>A (p.Ser13Arg)
|
rs1060502015
|
|
|
NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)
|
rs1060502015
|
|
|
NM_000251.3(MSH2):c.400A>G (p.Ile134Val)
|
rs1573440435
|
|
|
NM_000251.3(MSH2):c.400A>T (p.Ile134Phe)
|
rs1573440435
|
|
|
NM_000251.3(MSH2):c.403C>A (p.Leu135Ile)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.407T>C (p.Phe136Ser)
|
|
|
|
NM_000251.3(MSH2):c.408T>G (p.Phe136Leu)
|
rs1558458996
|
|
|
NM_000251.3(MSH2):c.412A>T (p.Asn138Tyr)
|
rs1553350673
|
|
|
NM_000251.3(MSH2):c.414C>A (p.Asn138Lys)
|
rs1672658909
|
|
|
NM_000251.3(MSH2):c.414C>G (p.Asn138Lys)
|
|
|
|
NM_000251.3(MSH2):c.415_417del (p.Asn139del)
|
rs1672659204
|
|
|
NM_000251.3(MSH2):c.416A>G (p.Asn139Ser)
|
rs1553350676
|
|
|
NM_000251.3(MSH2):c.419A>C (p.Asp140Ala)
|
rs1672659515
|
|
|
NM_000251.3(MSH2):c.419A>G (p.Asp140Gly)
|
rs1672659515
|
|
|
NM_000251.3(MSH2):c.419A>T (p.Asp140Val)
|
|
|
|
NM_000251.3(MSH2):c.41C>A (p.Ala14Glu)
|
|
|
|
NM_000251.3(MSH2):c.421A>G (p.Met141Val)
|
rs193922374
|
|
|
NM_000251.3(MSH2):c.423G>A (p.Met141Ile)
|
rs1672660061
|
|
|
NM_000251.3(MSH2):c.424T>G (p.Ser142Ala)
|
rs1064795714
|
|
|
NM_000251.3(MSH2):c.427G>A (p.Ala143Thr)
|
rs878853817
|
|
|
NM_000251.3(MSH2):c.428C>G (p.Ala143Gly)
|
rs1553350694
|
|
|
NM_000251.3(MSH2):c.428C>T (p.Ala143Val)
|
rs1553350694
|
|
|
NM_000251.3(MSH2):c.430T>G (p.Ser144Ala)
|
rs1672660930
|
|
|
NM_000251.3(MSH2):c.431C>G (p.Ser144Cys)
|
rs878853818
|
|
|
NM_000251.3(MSH2):c.432C>T (p.Ser144=)
|
rs1558459072
|
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
|
NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)
|
rs774132884
|
|
|
NM_000251.3(MSH2):c.442G>A (p.Val148Met)
|
rs1672662905
|
|
|
NM_000251.3(MSH2):c.442G>C (p.Val148Leu)
|
rs1672662905
|
|
|
NM_000251.3(MSH2):c.443T>A (p.Val148Glu)
|
rs1553350714
|
|
|
NM_000251.3(MSH2):c.443T>C (p.Val148Ala)
|
rs1553350714
|
|
|
NM_000251.3(MSH2):c.445G>A (p.Gly149Ser)
|
rs929758799
|
|
|
NM_000251.3(MSH2):c.446G>C (p.Gly149Ala)
|
rs587779162
|
|
|
NM_000251.3(MSH2):c.446G>T (p.Gly149Val)
|
rs587779162
|
|
|
NM_000251.3(MSH2):c.448G>A (p.Val150Ile)
|
rs1558459157
|
|
|
NM_000251.3(MSH2):c.448G>C (p.Val150Leu)
|
rs1558459157
|
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
|
NM_000251.3(MSH2):c.44C>T (p.Ala15Val)
|
rs776671839
|
|
|
NM_000251.3(MSH2):c.452A>C (p.Lys151Thr)
|
rs1558459171
|
|
|
NM_000251.3(MSH2):c.456G>A (p.Met152Ile)
|
rs1573440792
|
|
|
NM_000251.3(MSH2):c.457T>C (p.Ser153Pro)
|
|
|
|
NM_000251.3(MSH2):c.461C>T (p.Ala154Val)
|
rs1558459194
|
|
|
NM_000251.3(MSH2):c.463G>T (p.Val155Phe)
|
rs1372639847
|
|
|
NM_000251.3(MSH2):c.464T>A (p.Val155Asp)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.466G>C (p.Asp156His)
|
rs1672665230
|
|
|
NM_000251.3(MSH2):c.467A>G (p.Asp156Gly)
|
|
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
|
NM_000251.3(MSH2):c.470G>T (p.Gly157Val)
|
rs765489269
|
|
|
NM_000251.3(MSH2):c.473A>G (p.Gln158Arg)
|
rs1672665988
|
|
|
NM_000251.3(MSH2):c.476G>A (p.Arg159Lys)
|
rs786202921
|
|
|
NM_000251.3(MSH2):c.478C>A (p.Gln160Lys)
|
rs63751426
|
|
|
NM_000251.3(MSH2):c.478C>G (p.Gln160Glu)
|
|
|
|
NM_000251.3(MSH2):c.479A>C (p.Gln160Pro)
|
rs1573440972
|
|
|
NM_000251.3(MSH2):c.479A>G (p.Gln160Arg)
|
rs1573440972
|
|
|
NM_000251.3(MSH2):c.479A>T (p.Gln160Leu)
|
|
|
|
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)
|
rs745771647
|
|
|
NM_000251.3(MSH2):c.480G>T (p.Gln160His)
|
rs1558459273
|
|
|
NM_000251.3(MSH2):c.481G>C (p.Val161Leu)
|
rs149511545
|
|
|
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.482T>G (p.Val161Gly)
|
|
|
|
NM_000251.3(MSH2):c.485G>C (p.Gly162Ala)
|
rs63750773
|
|
|
NM_000251.3(MSH2):c.487G>A (p.Val163Ile)
|
|
|
|
NM_000251.3(MSH2):c.487G>T (p.Val163Phe)
|
|
|
|
NM_000251.3(MSH2):c.488T>C (p.Val163Ala)
|
rs63750214
|
|
|
NM_000251.3(MSH2):c.48G>C (p.Glu16Asp)
|
rs1060502036
|
|
|
NM_000251.3(MSH2):c.494A>G (p.Tyr165Cys)
|
rs1553350772
|
|
|
NM_000251.3(MSH2):c.496G>C (p.Val166Leu)
|
|
|
|
NM_000251.3(MSH2):c.496G>T (p.Val166Leu)
|
rs1672668358
|
|
|
NM_000251.3(MSH2):c.49G>C (p.Val17Leu)
|
rs63750966
|
|
|
NM_000251.3(MSH2):c.49G>T (p.Val17Phe)
|
rs63750966
|
|
|
NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)
|
rs281864943
|
|
|
NM_000251.3(MSH2):c.503C>A (p.Ser168Tyr)
|
rs1244537662
|
|
|
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr)
|
rs1060502011
|
|
|
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys)
|
rs2104027960
|
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
|
NM_000251.3(MSH2):c.508C>A (p.Gln170Lys)
|
rs63750843
|
|
|
NM_000251.3(MSH2):c.510G>C (p.Gln170His)
|
rs2104028363
|
|
|
NM_000251.3(MSH2):c.510G>T (p.Gln170His)
|
rs2104028363
|
|
|
NM_000251.3(MSH2):c.520G>A (p.Gly174Arg)
|
|
|
|
NM_000251.3(MSH2):c.527G>A (p.Cys176Tyr)
|
rs1553350829
|
|
|
NM_000251.3(MSH2):c.529G>A (p.Glu177Lys)
|
rs63750382
|
|
|
NM_000251.3(MSH2):c.530A>G (p.Glu177Gly)
|
rs786203795
|
|
|
NM_000251.3(MSH2):c.530A>T (p.Glu177Val)
|
rs786203795
|
|
|
NM_000251.3(MSH2):c.531A>T (p.Glu177Asp)
|
rs1060504416
|
|
|
NM_000251.3(MSH2):c.533T>A (p.Phe178Tyr)
|
rs1558459478
|
|
|
NM_000251.3(MSH2):c.534C>A (p.Phe178Leu)
|
rs1553350837
|
|
|
NM_000251.3(MSH2):c.536C>T (p.Pro179Leu)
|
rs902336078
|
|
|
NM_000251.3(MSH2):c.539A>C (p.Asp180Ala)
|
rs1159514085
|
|
|
NM_000251.3(MSH2):c.539A>G (p.Asp180Gly)
|
|
|
|
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp)
|
rs1200418561
|
|
|
NM_000251.3(MSH2):c.541A>G (p.Asn181Asp)
|
|
|
|
NM_000251.3(MSH2):c.545A>T (p.Asp182Val)
|
rs1672672975
|
|
|
NM_000251.3(MSH2):c.546T>A (p.Asp182Glu)
|
|
|
|
NM_000251.3(MSH2):c.547C>G (p.Gln183Glu)
|
rs63750037
|
|
|
NM_000251.3(MSH2):c.552C>A (p.Phe184Leu)
|
rs786202238
|
|
|
NM_000251.3(MSH2):c.554C>A (p.Ser185Tyr)
|
|
|
|
NM_000251.3(MSH2):c.556A>C (p.Asn186His)
|
rs766497093
|
|
|
NM_000251.3(MSH2):c.556A>G (p.Asn186Asp)
|
rs766497093
|
|
|
NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)
|
|
|
|
NM_000251.3(MSH2):c.559C>A (p.Leu187Ile)
|
rs759603999
|
|
|
NM_000251.3(MSH2):c.559C>T (p.Leu187Phe)
|
rs759603999
|
|
|
NM_000251.3(MSH2):c.55T>G (p.Phe19Val)
|
rs141711342
|
|
|
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)
|
rs1064795622
|
|
|
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln)
|
rs1064795622
|
|
|
NM_000251.3(MSH2):c.564G>A (p.Glu188=)
|
rs1553350883
|
|
|
NM_000251.3(MSH2):c.564G>C (p.Glu188Asp)
|
rs1553350883
|
|
|
NM_000251.3(MSH2):c.565G>A (p.Ala189Thr)
|
rs63750821
|
|
|
NM_000251.3(MSH2):c.568C>G (p.Leu190Val)
|
rs763459034
|
|
|
NM_000251.3(MSH2):c.568C>T (p.Leu190Phe)
|
rs763459034
|
|
|
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)
|
rs1320061495
|
|
|
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)
|
rs1553350898
|
|
|
NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)
|
|
|
|
NM_000251.3(MSH2):c.576C>G (p.Ile192Met)
|
rs864622381
|
|
|
NM_000251.3(MSH2):c.578A>C (p.Gln193Pro)
|
rs1573441665
|
|
|
NM_000251.3(MSH2):c.579G>C (p.Gln193His)
|
|
|
|
NM_000251.3(MSH2):c.580A>G (p.Ile194Val)
|
rs1672676776
|
|
|
NM_000251.3(MSH2):c.586C>T (p.Pro196Ser)
|
rs587782804
|
|
|
NM_000251.3(MSH2):c.587C>A (p.Pro196Gln)
|
rs754478179
|
|
|
NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)
|
rs778573140
|
|
|
NM_000251.3(MSH2):c.58G>A (p.Val20Met)
|
rs1198168331
|
|
|
NM_000251.3(MSH2):c.58G>C (p.Val20Leu)
|
rs1198168331
|
|
|
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly)
|
rs63750327
|
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
|
NM_000251.3(MSH2):c.599T>C (p.Val200Ala)
|
|
|
|
NM_000251.3(MSH2):c.5C>A (p.Ala2Glu)
|
rs587778521
|
|
|
NM_000251.3(MSH2):c.605C>G (p.Pro202Arg)
|
rs1060502002
|
|
|
NM_000251.3(MSH2):c.606C>A (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.608G>A (p.Gly203Glu)
|
rs1573441851
|
|
|
NM_000251.3(MSH2):c.608GAG[1] (p.Gly204del)
|
rs2104037867
|
|
|
NM_000251.3(MSH2):c.611G>C (p.Gly204Ala)
|
rs770787472
|
|
|
NM_000251.3(MSH2):c.616A>T (p.Thr206Ser)
|
rs2104038999
|
|
|
NM_000251.3(MSH2):c.617C>G (p.Thr206Ser)
|
rs876658623
|
|
|
NM_000251.3(MSH2):c.617C>T (p.Thr206Ile)
|
rs876658623
|
|
|
NM_000251.3(MSH2):c.619G>C (p.Ala207Pro)
|
rs63750913
|
|
|
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser)
|
rs63750913
|
|
|
NM_000251.3(MSH2):c.622_627dup (p.Gly208_Asp209dup)
|
rs1553350958
|
|
|
NM_000251.3(MSH2):c.623G>C (p.Gly208Ala)
|
rs1573441967
|
|
|
NM_000251.3(MSH2):c.625G>C (p.Asp209His)
|
rs746013810
|
|
|
NM_000251.3(MSH2):c.627C>G (p.Asp209Glu)
|
|
|
|
NM_000251.3(MSH2):c.628A>C (p.Met210Leu)
|
rs1558459826
|
|
|
NM_000251.3(MSH2):c.628A>G (p.Met210Val)
|
rs1558459826
|
|
|
NM_000251.3(MSH2):c.62G>A (p.Arg21His)
|
rs730881760
|
|
|
NM_000251.3(MSH2):c.62G>C (p.Arg21Pro)
|
rs730881760
|
|
|
NM_000251.3(MSH2):c.62_63delinsTT (p.Arg21Leu)
|
rs1060501996
|
|
|
NM_000251.3(MSH2):c.632G>A (p.Gly211Glu)
|
rs1672682495
|
|
|
NM_000251.3(MSH2):c.636A>T (p.Lys212Asn)
|
rs2104041494
|
|
|
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
|
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg)
|
rs1553350974
|
|
|
NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)
|
rs1553350980
|
|
|
NM_000251.3(MSH2):c.641G>A (p.Arg214Lys)
|
rs763298811
|
|
|
NM_000251.3(MSH2):c.645+4A>G
|
rs1573442142
|
|
|
NM_000251.3(MSH2):c.645+6C>T
|
rs1206136415
|
|
|
NM_000251.3(MSH2):c.646-14_646-13del
|
rs1553351532
|
|
|
NM_000251.3(MSH2):c.646-3_679dup
|
rs2104097745
|
|
|
NM_000251.3(MSH2):c.646-4A>G
|
rs587779974
|
|
|
NM_000251.3(MSH2):c.646-6A>G
|
rs1553351543
|
|
|
NM_000251.3(MSH2):c.646-8C>T
|
|
|
|
NM_000251.3(MSH2):c.646-8del
|
rs878853820
|
|
|
NM_000251.3(MSH2):c.646A>T (p.Ile216Leu)
|
rs63749936
|
|
|
NM_000251.3(MSH2):c.647T>C (p.Ile216Thr)
|
rs786203108
|
|
|
NM_000251.3(MSH2):c.648_650del (p.Ile217del)
|
rs1553351554
|
|
|
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)
|
rs1189127007
|
|
|
NM_000251.3(MSH2):c.64T>C (p.Phe22Leu)
|
rs1189127007
|
|
|
NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_000251.3(MSH2):c.652C>G (p.Gln218Glu)
|
rs587779170
|
|
|
NM_000251.3(MSH2):c.653A>G (p.Gln218Arg)
|
|
|
|
NM_000251.3(MSH2):c.656G>C (p.Arg219Thr)
|
rs878853821
|
|
|
NM_000251.3(MSH2):c.658G>C (p.Gly220Arg)
|
rs1573446496
|
|
|
NM_000251.3(MSH2):c.659G>A (p.Gly220Glu)
|
rs1573446509
|
|
|
NM_000251.3(MSH2):c.661G>C (p.Gly221Arg)
|
rs1558461638
|
|
|
NM_000251.3(MSH2):c.662G>A (p.Gly221Glu)
|
rs1672816231
|
|
|
NM_000251.3(MSH2):c.667C>G (p.Leu223Val)
|
rs1558461660
|
|
|
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)
|
rs1060501992
|
|
|
NM_000251.3(MSH2):c.66C>G (p.Phe22Leu)
|
rs200632093
|
|
|
NM_000251.3(MSH2):c.671T>G (p.Ile224Ser)
|
rs1672817021
|
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
|
NM_000251.3(MSH2):c.673A>C (p.Thr225Pro)
|
|
|
|
NM_000251.3(MSH2):c.673A>G (p.Thr225Ala)
|
rs2104100647
|
|
|
NM_000251.3(MSH2):c.674C>G (p.Thr225Arg)
|
rs1553351576
|
|
|
NM_000251.3(MSH2):c.674C>T (p.Thr225Ile)
|
rs1553351576
|
|
|
NM_000251.3(MSH2):c.677A>G (p.Glu226Gly)
|
rs1672817581
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.681A>C (p.Arg227Ser)
|
rs876658956
|
|
|
NM_000251.3(MSH2):c.681A>T (p.Arg227Ser)
|
rs876658956
|
|
|
NM_000251.3(MSH2):c.688G>C (p.Ala230Pro)
|
rs1672818590
|
|
|
NM_000251.3(MSH2):c.689C>A (p.Ala230Asp)
|
rs1553351592
|
|
|
NM_000251.3(MSH2):c.689C>G (p.Ala230Gly)
|
rs1553351592
|
|
|
NM_000251.3(MSH2):c.689C>T (p.Ala230Val)
|
rs1553351592
|
|
|
NM_000251.3(MSH2):c.690_692del (p.Asp231del)
|
|
|
|
NM_000251.3(MSH2):c.691G>A (p.Asp231Asn)
|
rs1384841612
|
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
|
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
|
rs587781724
|
|
|
NM_000251.3(MSH2):c.699_716del (p.Thr234_Gln239del)
|
rs1672819805
|
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
|
NM_000251.3(MSH2):c.701C>G (p.Thr234Arg)
|
rs730881773
|
|
|
NM_000251.3(MSH2):c.704A>C (p.Lys235Thr)
|
rs2104103015
|
|
|
NM_000251.3(MSH2):c.706G>A (p.Asp236Asn)
|
rs1064793655
|
|
|
NM_000251.3(MSH2):c.708C>A (p.Asp236Glu)
|
rs1553351613
|
|
|
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)
|
rs587779976
|
|
|
NM_000251.3(MSH2):c.710T>G (p.Ile237Ser)
|
|
|
|
NM_000251.3(MSH2):c.712T>C (p.Tyr238His)
|
|
|
|
NM_000251.3(MSH2):c.712T>G (p.Tyr238Asp)
|
rs1060501987
|
|
|
NM_000251.3(MSH2):c.713A>G (p.Tyr238Cys)
|
rs1553351618
|
|
|
NM_000251.3(MSH2):c.713A>T (p.Tyr238Phe)
|
rs1553351618
|
|
|
NM_000251.3(MSH2):c.716A>T (p.Gln239Leu)
|
rs199676483
|
|
|
NM_000251.3(MSH2):c.717G>C (p.Gln239His)
|
rs2104104310
|
|
|
NM_000251.3(MSH2):c.718G>A (p.Asp240Asn)
|
rs1157156506
|
|
|
NM_000251.3(MSH2):c.718G>T (p.Asp240Tyr)
|
rs1157156506
|
|
|
NM_000251.3(MSH2):c.719A>C (p.Asp240Ala)
|
rs878853822
|
|
|
NM_000251.3(MSH2):c.719A>G (p.Asp240Gly)
|
rs878853822
|
|
|
NM_000251.3(MSH2):c.721C>G (p.Leu241Val)
|
rs1410859610
|
|
|
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe)
|
rs1410859610
|
|
|
NM_000251.3(MSH2):c.722T>C (p.Leu241Pro)
|
rs2104105015
|
|
|
NM_000251.3(MSH2):c.724A>C (p.Asn242His)
|
rs1553351634
|
|
|
NM_000251.3(MSH2):c.725A>C (p.Asn242Thr)
|
|
|
|
NM_000251.3(MSH2):c.726C>A (p.Asn242Lys)
|
|
|
|
NM_000251.3(MSH2):c.727C>A (p.Arg243=)
|
rs138857091
|
|
|
NM_000251.3(MSH2):c.728G>C (p.Arg243Pro)
|
|
|
|
NM_000251.3(MSH2):c.730T>A (p.Leu244Met)
|
|
|
|
NM_000251.3(MSH2):c.731T>C (p.Leu244Ser)
|
rs1553351657
|
|
|
NM_000251.3(MSH2):c.732G>T (p.Leu244Phe)
|
|
|
|
NM_000251.3(MSH2):c.734T>C (p.Leu245Ser)
|
|
|
|
NM_000251.3(MSH2):c.734T>G (p.Leu245Trp)
|
rs1672823951
|
|
|
NM_000251.3(MSH2):c.735G>C (p.Leu245Phe)
|
rs864622271
|
|
|
NM_000251.3(MSH2):c.736A>G (p.Lys246Glu)
|
rs63750881
|
|
|
NM_000251.3(MSH2):c.738A>C (p.Lys246Asn)
|
rs1672824851
|
|
|
NM_000251.3(MSH2):c.739G>C (p.Gly247Arg)
|
rs2104106661
|
|
|
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)
|
rs746259256
|
|
|
NM_000251.3(MSH2):c.741C>T (p.Gly247=)
|
rs747321505
|
|
|
NM_000251.3(MSH2):c.742A>C (p.Lys248Gln)
|
rs587779178
|
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
|
NM_000251.3(MSH2):c.744A>C (p.Lys248Asn)
|
rs1060502022
|
|
|
NM_000251.3(MSH2):c.746A>C (p.Lys249Thr)
|
rs61756464
|
|
|
NM_000251.3(MSH2):c.746A>G (p.Lys249Arg)
|
rs61756464
|
|
|
NM_000251.3(MSH2):c.747G>C (p.Lys249Asn)
|
rs786201568
|
|
|
NM_000251.3(MSH2):c.748G>A (p.Gly250Arg)
|
rs864622183
|
|
|
NM_000251.3(MSH2):c.751G>A (p.Glu251Lys)
|
rs147389443
|
|
|
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)
|
rs370906735
|
|
|
NM_000251.3(MSH2):c.756G>T (p.Gln252His)
|
rs763639520
|
|
|
NM_000251.3(MSH2):c.757A>G (p.Met253Val)
|
rs1672827889
|
|
|
NM_000251.3(MSH2):c.760A>C (p.Asn254His)
|
|
|
|
NM_000251.3(MSH2):c.761A>C (p.Asn254Thr)
|
|
|
|
NM_000251.3(MSH2):c.761A>G (p.Asn254Ser)
|
rs1558462016
|
|
|
NM_000251.3(MSH2):c.764G>C (p.Ser255Thr)
|
rs763184168
|
|
|
NM_000251.3(MSH2):c.767C>T (p.Ala256Val)
|
|
|
|
NM_000251.3(MSH2):c.769G>A (p.Val257Ile)
|
rs876659357
|
|
|
NM_000251.3(MSH2):c.769G>T (p.Val257Leu)
|
|
|
|
NM_000251.3(MSH2):c.76A>C (p.Met26Leu)
|
rs876660371
|
|
|
NM_000251.3(MSH2):c.76A>G (p.Met26Val)
|
rs876660371
|
|
|
NM_000251.3(MSH2):c.776C>G (p.Pro259Arg)
|
|
|
|
NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)
|
rs866818044
|
|
|
NM_000251.3(MSH2):c.778G>A (p.Glu260Lys)
|
rs1672830765
|
|
|
NM_000251.3(MSH2):c.77T>A (p.Met26Lys)
|
|
|
|
NM_000251.3(MSH2):c.781A>G (p.Met261Val)
|
rs786201941
|
|
|
NM_000251.3(MSH2):c.781A>T (p.Met261Leu)
|
rs786201941
|
|
|
NM_000251.3(MSH2):c.783G>A (p.Met261Ile)
|
rs1226778440
|
|
|
NM_000251.3(MSH2):c.784G>A (p.Glu262Lys)
|
|
|
|
NM_000251.3(MSH2):c.784G>C (p.Glu262Gln)
|
rs1553351739
|
|
|
NM_000251.3(MSH2):c.785A>T (p.Glu262Val)
|
rs1558462101
|
|
|
NM_000251.3(MSH2):c.786G>C (p.Glu262Asp)
|
rs754820584
|
|
|
NM_000251.3(MSH2):c.786G>T (p.Glu262Asp)
|
rs754820584
|
|
|
NM_000251.3(MSH2):c.787A>C (p.Asn263His)
|
rs876659858
|
|
|
NM_000251.3(MSH2):c.787A>T (p.Asn263Tyr)
|
rs876659858
|
|
|
NM_000251.3(MSH2):c.788A>G (p.Asn263Ser)
|
rs1553351743
|
|
|
NM_000251.3(MSH2):c.788A>T (p.Asn263Ile)
|
rs1553351743
|
|
|
NM_000251.3(MSH2):c.791A>C (p.Gln264Pro)
|
rs730881780
|
|
|
NM_000251.3(MSH2):c.792+4C>T
|
rs1416241924
|
|
|
NM_000251.3(MSH2):c.792+6T>A
|
rs553480072
|
|
|
NM_000251.3(MSH2):c.792+6T>C
|
rs553480072
|
|
|
NM_000251.3(MSH2):c.792G>A (p.Gln264=)
|
rs587779183
|
|
|
NM_000251.3(MSH2):c.792G>C (p.Gln264His)
|
rs587779183
|
|
|
NM_000251.3(MSH2):c.793-10T>G
|
rs1060502016
|
|
|
NM_000251.3(MSH2):c.793G>A (p.Val265Ile)
|
rs1553352377
|
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
|
NM_000251.3(MSH2):c.796G>A (p.Ala266Thr)
|
rs1114167887
|
|
|
NM_000251.3(MSH2):c.797C>A (p.Ala266Glu)
|
rs587781745
|
|
|
NM_000251.3(MSH2):c.799G>T (p.Val267Phe)
|
|
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.79C>G (p.Pro27Ala)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.7G>A (p.Val3Met)
|
rs1257347271
|
|
|
NM_000251.3(MSH2):c.7G>T (p.Val3Leu)
|
rs1257347271
|
|
|
NM_000251.3(MSH2):c.802T>G (p.Ser268Ala)
|
rs876659298
|
|
|
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)
|
rs63750058
|
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
|
NM_000251.3(MSH2):c.80C>G (p.Pro27Arg)
|
rs750746034
|
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
|
NM_000251.3(MSH2):c.820A>C (p.Ile274Leu)
|
rs371944271
|
|
|
NM_000251.3(MSH2):c.822C>G (p.Ile274Met)
|
rs781569442
|
|
|
NM_000251.3(MSH2):c.823A>C (p.Lys275Gln)
|
rs1672946564
|
|
|
NM_000251.3(MSH2):c.826T>A (p.Phe276Ile)
|
rs1672946845
|
|
|
NM_000251.3(MSH2):c.827T>G (p.Phe276Cys)
|
rs2104168386
|
|
|
NM_000251.3(MSH2):c.830T>C (p.Leu277Ser)
|
rs786203424
|
|
|
NM_000251.3(MSH2):c.832G>A (p.Glu278Lys)
|
rs1558464008
|
|
|
NM_000251.3(MSH2):c.833A>G (p.Glu278Gly)
|
rs1672947364
|
|
|
NM_000251.3(MSH2):c.836T>A (p.Leu279His)
|
rs1024743168
|
|
|
NM_000251.3(MSH2):c.836T>C (p.Leu279Pro)
|
rs1024743168
|
|
|
NM_000251.3(MSH2):c.840A>C (p.Leu280Phe)
|
rs1672948461
|
|
|
NM_000251.3(MSH2):c.841T>A (p.Ser281Thr)
|
rs587779977
|
|
|
NM_000251.3(MSH2):c.844G>C (p.Asp282His)
|
rs760432160
|
|
|
NM_000251.3(MSH2):c.845A>C (p.Asp282Ala)
|
rs587779978
|
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
|
NM_000251.3(MSH2):c.846T>G (p.Asp282Glu)
|
rs1254906246
|
|
|
NM_000251.3(MSH2):c.847G>C (p.Asp283His)
|
rs63750381
|
|
|
NM_000251.3(MSH2):c.848A>G (p.Asp283Gly)
|
rs770643326
|
|
|
NM_000251.3(MSH2):c.84G>T (p.Glu28Asp)
|
rs752220575
|
|
|
NM_000251.3(MSH2):c.854A>C (p.Asn285Thr)
|
rs1060502031
|
|
|
NM_000251.3(MSH2):c.857T>C (p.Phe286Ser)
|
rs1672950637
|
|
|
NM_000251.3(MSH2):c.859G>A (p.Gly287Arg)
|
|
|
|
NM_000251.3(MSH2):c.859G>C (p.Gly287Arg)
|
rs63750276
|
|
|
NM_000251.3(MSH2):c.85A>G (p.Lys29Glu)
|
rs1060502001
|
|
|
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu)
|
rs587782567
|
|
|
NM_000251.3(MSH2):c.862C>G (p.Gln288Glu)
|
rs63750097
|
|
|
NM_000251.3(MSH2):c.865T>C (p.Phe289Leu)
|
rs1060502003
|
|
|
NM_000251.3(MSH2):c.868G>C (p.Glu290Gln)
|
|
|
|
NM_000251.3(MSH2):c.869A>G (p.Glu290Gly)
|
|
|
|
NM_000251.3(MSH2):c.871C>G (p.Leu291Val)
|
rs878853827
|
|
|
NM_000251.3(MSH2):c.874A>C (p.Thr292Pro)
|
rs104895022
|
|
|
NM_000251.3(MSH2):c.874A>G (p.Thr292Ala)
|
rs104895022
|
|
|
NM_000251.3(MSH2):c.87G>T (p.Lys29Asn)
|
rs1573423284
|
|
|
NM_000251.3(MSH2):c.883G>T (p.Asp295Tyr)
|
rs2104175191
|
|
|
NM_000251.3(MSH2):c.887T>A (p.Phe296Tyr)
|
rs1573451658
|
|
|
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)
|
rs876659918
|
|
|
NM_000251.3(MSH2):c.88C>A (p.Pro30Thr)
|
rs786203822
|
|
|
NM_000251.3(MSH2):c.88C>T (p.Pro30Ser)
|
|
|
|
NM_000251.3(MSH2):c.890G>A (p.Ser297Asn)
|
rs1672953801
|
|
|
NM_000251.3(MSH2):c.894G>T (p.Gln298His)
|
|
|
|
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)
|
rs1558464315
|
|
|
NM_000251.3(MSH2):c.898A>G (p.Met300Val)
|
rs730881753
|
|
|
NM_000251.3(MSH2):c.89C>G (p.Pro30Arg)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.900G>A (p.Met300Ile)
|
rs587782530
|
|
|
NM_000251.3(MSH2):c.904T>A (p.Leu302Met)
|
rs876660115
|
|
|
NM_000251.3(MSH2):c.906G>C (p.Leu302Phe)
|
rs786202947
|
|
|
NM_000251.3(MSH2):c.907G>A (p.Asp303Asn)
|
rs1064793654
|
|
|
NM_000251.3(MSH2):c.907G>C (p.Asp303His)
|
rs1064793654
|
|
|
NM_000251.3(MSH2):c.908A>G (p.Asp303Gly)
|
|
|
|
NM_000251.3(MSH2):c.910A>G (p.Ile304Val)
|
rs1558464351
|
|
|
NM_000251.3(MSH2):c.910A>T (p.Ile304Phe)
|
rs1558464351
|
|
|
NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)
|
rs1021303606
|
|
|
NM_000251.3(MSH2):c.916_917delinsAT (p.Ala306Ile)
|
rs2104178925
|
|
|
NM_000251.3(MSH2):c.917C>G (p.Ala306Gly)
|
rs1553352536
|
|
|
NM_000251.3(MSH2):c.917C>T (p.Ala306Val)
|
rs1553352536
|
|
|
NM_000251.3(MSH2):c.918_919delinsTT (p.Val307Phe)
|
rs2104179126
|
|
|
NM_000251.3(MSH2):c.919G>C (p.Val307Leu)
|
rs1672956447
|
|
|
NM_000251.3(MSH2):c.919G>T (p.Val307Phe)
|
rs1672956447
|
|
|
NM_000251.3(MSH2):c.91A>G (p.Thr31Ala)
|
|
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
|
NM_000251.3(MSH2):c.925G>A (p.Ala309Thr)
|
rs781257094
|
|
|
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro)
|
rs781257094
|
|
|
NM_000251.3(MSH2):c.928C>T (p.Leu310Phe)
|
rs750866402
|
|
|
NM_000251.3(MSH2):c.92C>A (p.Thr31Asn)
|
|
|
|
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser)
|
rs746635262
|
|
|
NM_000251.3(MSH2):c.932A>C (p.Asn311Thr)
|
|
|
|
NM_000251.3(MSH2):c.932A>G (p.Asn311Ser)
|
rs1553352559
|
|
|
NM_000251.3(MSH2):c.934C>A (p.Leu312Ile)
|
rs756398636
|
|
|
NM_000251.3(MSH2):c.934C>T (p.Leu312Phe)
|
|
|
|
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)
|
rs2104180665
|
|
|
NM_000251.3(MSH2):c.937T>C (p.Phe313Leu)
|
rs1672958025
|
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+27_942+29dup
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+2_942+4del
|
rs767111319
|
|
|
NM_000251.3(MSH2):c.942+2_942+5del
|
rs763758661
|
|
|
NM_000251.3(MSH2):c.942+2_942+6del
|
rs755583143
|
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.942+4A>C
|
rs749778569
|
|
|
NM_000251.3(MSH2):c.942+4_942+5insTA
|
|
|
|
NM_000251.3(MSH2):c.942+5A>C
|
rs769242733
|
|
|
NM_000251.3(MSH2):c.943-3T>A
|
|
|
|
NM_000251.3(MSH2):c.943-3T>C
|
rs2104241966
|
|
|
NM_000251.3(MSH2):c.943-4C>G
|
rs1432053166
|
|
|
NM_000251.3(MSH2):c.943G>A (p.Gly315Ser)
|
rs2104242161
|
|
|
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys)
|
rs2104242161
|
|
|
NM_000251.3(MSH2):c.944G>A (p.Gly315Asp)
|
rs202026056
|
|
|
NM_000251.3(MSH2):c.946T>A (p.Ser316Thr)
|
rs1553353101
|
|
|
NM_000251.3(MSH2):c.946T>C (p.Ser316Pro)
|
rs1553353101
|
|
|
NM_000251.3(MSH2):c.947C>A (p.Ser316Tyr)
|
rs876660241
|
|
|
NM_000251.3(MSH2):c.947C>G (p.Ser316Cys)
|
|
|
|
NM_000251.3(MSH2):c.949G>T (p.Val317Phe)
|
|
|
|
NM_000251.3(MSH2):c.94A>C (p.Thr32Pro)
|
rs1060502033
|
|
|
NM_000251.3(MSH2):c.94A>G (p.Thr32Ala)
|
rs1060502033
|
|
|
NM_000251.3(MSH2):c.953A>G (p.Glu318Gly)
|
rs2104242889
|
|
|
NM_000251.3(MSH2):c.955G>A (p.Asp319Asn)
|
rs876660605
|
|
|
NM_000251.3(MSH2):c.955G>C (p.Asp319His)
|
|
|
|
NM_000251.3(MSH2):c.955G>T (p.Asp319Tyr)
|
rs876660605
|
|
|
NM_000251.3(MSH2):c.956A>C (p.Asp319Ala)
|
rs786204185
|
|
|
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser)
|
rs1064794010
|
|
|
NM_000251.3(MSH2):c.959C>T (p.Thr320Ile)
|
rs1064794010
|
|
|
NM_000251.3(MSH2):c.95C>A (p.Thr32Asn)
|
rs552361923
|
|
|
NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)
|
|
|
|
NM_000251.3(MSH2):c.961A>C (p.Thr321Pro)
|
rs587781550
|
|
|
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala)
|
rs587781550
|
|
|
NM_000251.3(MSH2):c.961A>T (p.Thr321Ser)
|
rs587781550
|
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
|
NM_000251.3(MSH2):c.966_968del (p.Ser323del)
|
|
|
|
NM_000251.3(MSH2):c.967T>C (p.Ser323Pro)
|
rs2104244172
|
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
|
NM_000251.3(MSH2):c.970C>G (p.Gln324Glu)
|
rs63750502
|
|
|
NM_000251.3(MSH2):c.974C>T (p.Ser325Phe)
|
|
|
|
NM_000251.3(MSH2):c.976C>G (p.Leu326Val)
|
rs1237931528
|
|
|
NM_000251.3(MSH2):c.977T>C (p.Leu326Pro)
|
rs2104245233
|
|
|
NM_000251.3(MSH2):c.979G>A (p.Ala327Thr)
|
rs1558466437
|
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
|
NM_000251.3(MSH2):c.980C>T (p.Ala327Val)
|
rs1553353141
|
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
|
NM_000251.3(MSH2):c.985T>G (p.Leu329Val)
|
rs1553353150
|
|
|
NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)
|
rs933434691
|
|
|
NM_000251.3(MSH2):c.988C>A (p.Leu330Met)
|
rs1553353157
|
|
|
NM_000251.3(MSH2):c.98C>G (p.Thr33Arg)
|
rs769631146
|
|
|
NM_000251.3(MSH2):c.994A>C (p.Lys332Gln)
|
|
|
|
NM_000251.3(MSH2):c.995A>T (p.Lys332Met)
|
rs1673074249
|
|
|
NM_000251.3(MSH2):c.996G>C (p.Lys332Asn)
|
|
|
|
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr)
|
rs370354759
|
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
|
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser)
|
rs1839125790
|
|
|
NM_000264.5(PTCH1):c.3168+139G>C
|
|
|
|
NM_000264.5(PTCH1):c.3449+255G>T
|
|
|
|
NM_000264.5(PTCH1):c.3836_3837del (p.Pro1279fs)
|
rs1564006281
|
|
|
NM_000283.4(PDE6B):c.1401+8_1401+9insA
|
rs193920816
|
|
|
NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg)
|
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.8(PTEN):c.*667A>T
|
rs886047409
|
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
|
NM_000314.8(PTEN):c.1083T>C (p.Ser361=)
|
rs2132289564
|
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
|
NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)
|
|
|
|
NM_000314.8(PTEN):c.218A>G (p.Glu73Gly)
|
rs2132238743
|
|
|
NM_000314.8(PTEN):c.254-13_254-12del
|
|
|
|
NM_000314.8(PTEN):c.254-16dup
|
|
|
|
NM_000314.8(PTEN):c.254-22T>A
|
|
|
|
NM_000314.8(PTEN):c.254-23C>A
|
|
|
|
NM_000314.8(PTEN):c.254-5dup
|
|
|
|
NM_000314.8(PTEN):c.254-7A>T
|
|
|
|
NM_000314.8(PTEN):c.254-8del
|
|
|
|
NM_000314.8(PTEN):c.255del (p.Ala86fs)
|
|
|
|
NM_000314.8(PTEN):c.260A>T (p.Gln87Leu)
|
|
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
|
NM_000314.8(PTEN):c.285del (p.Pro96fs)
|
|
|
|
NM_000314.8(PTEN):c.291G>A (p.Gln97=)
|
rs1564829889
|
|
|
NM_000314.8(PTEN):c.298C>A (p.Leu100Ile)
|
|
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
|
NM_000314.8(PTEN):c.306dup (p.Pro103fs)
|
|
|
|
NM_000314.8(PTEN):c.315T>A (p.Cys105Ter)
|
|
|
|
NM_000314.8(PTEN):c.315T>C (p.Cys105=)
|
|
|
|
NM_000314.8(PTEN):c.315T>G (p.Cys105Trp)
|
|
|
|
NM_000314.8(PTEN):c.318_319insT (p.Asp107Ter)
|
|
|
|
NM_000314.8(PTEN):c.318_320delinsCTT (p.Glu106_Asp107delinsAspPhe)
|
|
|
|
NM_000314.8(PTEN):c.318dup (p.Asp107fs)
|
|
|
|
NM_000314.8(PTEN):c.319G>C (p.Asp107His)
|
|
|
|
NM_000314.8(PTEN):c.319_320insT (p.Asp107fs)
|
|
|
|
NM_000314.8(PTEN):c.322C>T (p.Leu108Phe)
|
|
|
|
NM_000314.8(PTEN):c.323_326delinsCC (p.Leu108fs)
|
|
|
|
NM_000314.8(PTEN):c.326A>C (p.Asp109Ala)
|
|
|
|
NM_000314.8(PTEN):c.331del (p.Trp111fs)
|
|
|
|
NM_000314.8(PTEN):c.333dup (p.Leu112fs)
|
|
|
|
NM_000314.8(PTEN):c.334C>A (p.Leu112Ile)
|
|
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
|
NM_000314.8(PTEN):c.334del (p.Trp111_Leu112insTer)
|
|
|
|
NM_000314.8(PTEN):c.338del (p.Ser113fs)
|
|
|
|
NM_000314.8(PTEN):c.339T>A (p.Ser113Arg)
|
|
|
|
NM_000314.8(PTEN):c.339T>G (p.Ser113Arg)
|
|
|
|
NM_000314.8(PTEN):c.342A>C (p.Glu114Asp)
|
|
|
|
NM_000314.8(PTEN):c.343del (p.Asp115fs)
|
|
|
|
NM_000314.8(PTEN):c.344del (p.Asp115fs)
|
|
|
|
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu)
|
rs2132242798
|
|
|
NM_000314.8(PTEN):c.350del (p.Asn117fs)
|
|
|
|
NM_000314.8(PTEN):c.353A>T (p.His118Leu)
|
|
|
|
NM_000314.8(PTEN):c.356_357insC (p.Ala120fs)
|
|
|
|
NM_000314.8(PTEN):c.357dup (p.Ala120fs)
|
|
|
|
NM_000314.8(PTEN):c.360_361insC (p.Ala121fs)
|
|
|
|
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
|
|
|
|
NM_000314.8(PTEN):c.361G>C (p.Ala121Pro)
|
|
|
|
NM_000314.8(PTEN):c.361del (p.Ala121fs)
|
|
|
|
NM_000314.8(PTEN):c.364A>C (p.Ile122Leu)
|
|
|
|
NM_000314.8(PTEN):c.365T>A (p.Ile122Asn)
|
|
|
|
NM_000314.8(PTEN):c.366dup (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.367dup (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.368A>C (p.His123Pro)
|
|
|
|
NM_000314.8(PTEN):c.368del (p.His123fs)
|
|
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
|
NM_000314.8(PTEN):c.372del (p.His123_Cys124insTer)
|
|
|
|
NM_000314.8(PTEN):c.375del (p.Ala126fs)
|
|
|
|
NM_000314.8(PTEN):c.376del (p.Ala126fs)
|
|
|
|
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
|
|
|
|
NM_000314.8(PTEN):c.383del (p.Lys128fs)
|
|
|
|
NM_000314.8(PTEN):c.383dup (p.Arg130fs)
|
|
|
|
NM_000314.8(PTEN):c.387_427del (p.Arg130fs)
|
|
|
|
NM_000314.8(PTEN):c.390_391delinsGG (p.Thr131Ala)
|
|
|
|
NM_000314.8(PTEN):c.391dup (p.Thr131fs)
|
|
|
|
NM_000314.8(PTEN):c.393_394delinsAA (p.Gly132Ser)
|
|
|
|
NM_000314.8(PTEN):c.395G>C (p.Gly132Ala)
|
|
|
|
NM_000314.8(PTEN):c.396del (p.Gly132_Val133insTer)
|
|
|
|
NM_000314.8(PTEN):c.398_399del (p.Val133fs)
|
|
|
|
NM_000314.8(PTEN):c.398del (p.Val133fs)
|
|
|
|
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
|
|
|
|
NM_000314.8(PTEN):c.401_402delinsA (p.Met134fs)
|
|
|
|
NM_000314.8(PTEN):c.403dup (p.Ile135fs)
|
|
|
|
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.406del (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.407del (p.Cys136fs)
|
|
|
|
NM_000314.8(PTEN):c.409dup (p.Ala137fs)
|
|
|
|
NM_000314.8(PTEN):c.419T>C (p.Leu140Ser)
|
|
|
|
NM_000314.8(PTEN):c.422del (p.His141fs)
|
|
|
|
NM_000314.8(PTEN):c.424dup (p.Arg142fs)
|
|
|
|
NM_000314.8(PTEN):c.427_428insA (p.Gly143fs)
|
|
|
|
NM_000314.8(PTEN):c.427_428insCCAATGCTGCAACGAATGTCATCTTATTAAACC (p.Gly143delinsAlaAsnAlaAlaThrAsnValIleLeuLeuAsnArg)
|
|
|
|
NM_000314.8(PTEN):c.428_429delinsAA (p.Gly143Glu)
|
|
|
|
NM_000314.8(PTEN):c.428_430delinsC (p.Gly143fs)
|
|
|
|
NM_000314.8(PTEN):c.428del (p.Gly143fs)
|
rs2132243612
|
|
|
NM_000314.8(PTEN):c.429C>A (p.Gly143=)
|
|
|
|
NM_000314.8(PTEN):c.429del (p.Lys144fs)
|
|
|
|
NM_000314.8(PTEN):c.430_431delinsC (p.Lys144fs)
|
|
|
|
NM_000314.8(PTEN):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_000314.8(PTEN):c.431A>G (p.Lys144Arg)
|
|
|
|
NM_000314.8(PTEN):c.432A>C (p.Lys144Asn)
|
|
|
|
NM_000314.8(PTEN):c.432A>T (p.Lys144Asn)
|
|
|
|
NM_000314.8(PTEN):c.432_433insGA (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.432_435delinsGAGG (p.Phe145Arg)
|
|
|
|
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.433T>A (p.Phe145Ile)
|
|
|
|
NM_000314.8(PTEN):c.433T>G (p.Phe145Val)
|
|
|
|
NM_000314.8(PTEN):c.433_436delinsGGG (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.433_437delinsAGGG (p.Phe145fs)
|
|
|
|
NM_000314.8(PTEN):c.435_436inv (p.Phe145_Leu146delinsLeuIle)
|
|
|
|
NM_000314.8(PTEN):c.435delinsCA (p.Leu146fs)
|
|
|
|
NM_000314.8(PTEN):c.437_438del (p.Phe145_Leu146insTer)
|
|
|
|
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
|
|
|
|
NM_000314.8(PTEN):c.438_439delinsGG (p.Lys147Glu)
|
|
|
|
NM_000314.8(PTEN):c.439_440insG (p.Lys147fs)
|
|
|
|
NM_000314.8(PTEN):c.440del (p.Lys147fs)
|
rs2132243722
|
|
|
NM_000314.8(PTEN):c.442_443insAGC (p.Ala148delinsGluPro)
|
|
|
|
NM_000314.8(PTEN):c.442del (p.Ala148fs)
|
|
|
|
NM_000314.8(PTEN):c.443del (p.Ala148fs)
|
|
|
|
NM_000314.8(PTEN):c.445del (p.Gln149fs)
|
|
|
|
NM_000314.8(PTEN):c.448G>A (p.Glu150Lys)
|
|
|
|
NM_000314.8(PTEN):c.448del (p.Glu150fs)
|
|
|
|
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
|
|
|
|
NM_000314.8(PTEN):c.454del (p.Ala151_Leu152insTer)
|
|
|
|
NM_000314.8(PTEN):c.456del (p.Asp153fs)
|
|
|
|
NM_000314.8(PTEN):c.457del (p.Asp153fs)
|
|
|
|
NM_000314.8(PTEN):c.459T>A (p.Asp153Glu)
|
|
|
|
NM_000314.8(PTEN):c.461_462insTC (p.Tyr155fs)
|
|
|
|
NM_000314.8(PTEN):c.461del (p.Phe154fs)
|
|
|
|
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
|
|
|
|
NM_000314.8(PTEN):c.462C>T (p.Phe154=)
|
rs1859982800
|
|
|
NM_000314.8(PTEN):c.462dup (p.Tyr155fs)
|
|
|
|
NM_000314.8(PTEN):c.463del (p.Tyr155fs)
|
rs2132243942
|
|
|
NM_000314.8(PTEN):c.465dup (p.Gly156fs)
|
|
|
|
NM_000314.8(PTEN):c.469_470del (p.Glu157fs)
|
|
|
|
NM_000314.8(PTEN):c.469_470insT (p.Glu157fs)
|
|
|
|
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
|
|
|
|
NM_000314.8(PTEN):c.472_474delinsAGG (p.Val158Arg)
|
|
|
|
NM_000314.8(PTEN):c.473T>C (p.Val158Ala)
|
|
|
|
NM_000314.8(PTEN):c.473del (p.Val158fs)
|
|
|
|
NM_000314.8(PTEN):c.475del (p.Arg159fs)
|
|
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
|
NM_000314.8(PTEN):c.478_479delinsGA (p.Thr160Asp)
|
|
|
|
NM_000314.8(PTEN):c.480C>A (p.Thr160=)
|
|
|
|
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
|
|
|
|
NM_000314.8(PTEN):c.481A>G (p.Arg161Gly)
|
|
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
|
NM_000314.8(PTEN):c.491A>G (p.Lys164Arg)
|
|
|
|
NM_000314.8(PTEN):c.492+23del
|
|
|
|
NM_000314.8(PTEN):c.492+28T>C
|
|
|
|
NM_000314.8(PTEN):c.492+34T>C
|
|
|
|
NM_000314.8(PTEN):c.492+5del
|
|
|
|
NM_000314.8(PTEN):c.492+7del
|
|
|
|
NM_000314.8(PTEN):c.493-1856_493-1854delinsTGG
|
|
|
|
NM_000314.8(PTEN):c.493-3148_493-1857del
|
|
|
|
NM_000314.8(PTEN):c.493-3C>T
|
|
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
|
NM_000314.8(PTEN):c.634+14A>G
|
rs762694325
|
|
|
NM_000314.8(PTEN):c.742C>T (p.Pro248Ser)
|
rs1564566931
|
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
|
NM_000321.2(RB1):c.-165C>T
|
|
|
|
NM_000321.2(RB1):c.-221_-199del23
|
|
|
|
NM_000321.3(RB1):c.*1408C>T
|
rs1315102846
|
|
|
NM_000321.3(RB1):c.*1459T>C
|
rs886050284
|
|
|
NM_000321.3(RB1):c.*1540A>G
|
rs768155412
|
|
|
NM_000321.3(RB1):c.*1635T>A
|
rs886050286
|
|
|
NM_000321.3(RB1):c.*249G>T
|
rs1949530910
|
|
|
NM_000321.3(RB1):c.*392T>G
|
rs1949531949
|
|
|
NM_000321.3(RB1):c.*398G>T
|
rs886050274
|
|
|
NM_000321.3(RB1):c.*413T>G
|
rs886050275
|
|
|
NM_000321.3(RB1):c.*435A>G
|
rs886050276
|
|
|
NM_000321.3(RB1):c.*444ATCT[1]
|
rs746086958
|
|
|
NM_000321.3(RB1):c.*512A>C
|
rs886050278
|
|
|
NM_000321.3(RB1):c.*604A>T
|
rs886050279
|
|
|
NM_000321.3(RB1):c.*673G>T
|
rs886050280
|
|
|
NM_000321.3(RB1):c.*788C>A
|
rs886050281
|
|
|
NM_000321.3(RB1):c.*998G>A
|
rs886050282
|
|
|
NM_000321.3(RB1):c.-100A>T
|
rs1952049790
|
|
|
NM_000321.3(RB1):c.-121G>A
|
|
|
|
NM_000321.3(RB1):c.-123G>A
|
|
|
|
NM_000321.3(RB1):c.-125A>G
|
|
|
|
NM_000321.3(RB1):c.-125A>T
|
|
|
|
NM_000321.3(RB1):c.-126C>T
|
|
|
|
NM_000321.3(RB1):c.-128C>G
|
|
|
|
NM_000321.3(RB1):c.-134G>T
|
|
|
|
NM_000321.3(RB1):c.-147G>A
|
|
|
|
NM_000321.3(RB1):c.-152C>T
|
|
|
|
NM_000321.3(RB1):c.-153G>T
|
rs886050266
|
|
|
NM_000321.3(RB1):c.-155G>C
|
rs1952049136
|
|
|
NM_000321.3(RB1):c.-156C>A
|
rs886050265
|
|
|
NM_000321.3(RB1):c.-157C>G
|
|
|
|
NM_000321.3(RB1):c.-158G>A
|
|
|
|
NM_000321.3(RB1):c.-15C>G
|
|
|
|
NM_000321.3(RB1):c.-15C>T
|
|
|
|
NM_000321.3(RB1):c.-160T>C
|
|
|
|
NM_000321.3(RB1):c.-29C>G
|
|
|
|
NM_000321.3(RB1):c.-2T>G
|
rs1466986201
|
|
|
NM_000321.3(RB1):c.-2_8del (p.Met1fs)
|
|
|
|
NM_000321.3(RB1):c.-37C>A
|
|
|
|
NM_000321.3(RB1):c.-4C>T
|
|
|
|
NM_000321.3(RB1):c.-65T>G
|
|
|
|
NM_000321.3(RB1):c.-72C>T
|
|
|
|
NM_000321.3(RB1):c.-76G>T
|
|
|
|
NM_000321.3(RB1):c.-78del
|
|
|
|
NM_000321.3(RB1):c.-79G>A
|
|
|
|
NM_000321.3(RB1):c.-80G>A
|
|
|
|
NM_000321.3(RB1):c.-85G>C
|
|
|
|
NM_000321.3(RB1):c.-98G>A
|
|
|
|
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
|
|
|
|
NM_000321.3(RB1):c.100G>C (p.Glu34Gln)
|
rs2138027798
|
|
|
NM_000321.3(RB1):c.1010T>C (p.Leu337Ser)
|
|
|
|
NM_000321.3(RB1):c.1010T>G (p.Leu337Trp)
|
|
|
|
NM_000321.3(RB1):c.1016A>G (p.His339Arg)
|
rs1566194383
|
|
|
NM_000321.3(RB1):c.1020T>A (p.Asp340Glu)
|
|
|
|
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg)
|
rs1393042716
|
|
|
NM_000321.3(RB1):c.1023A>T (p.Lys341Asn)
|
rs2138121417
|
|
|
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)
|
|
|
|
NM_000321.3(RB1):c.102G>C (p.Glu34Asp)
|
rs1952054573
|
|
|
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg)
|
rs1566194400
|
|
|
NM_000321.3(RB1):c.1036G>C (p.Asp346His)
|
rs2138121489
|
|
|
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala)
|
rs1566194403
|
|
|
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly)
|
|
|
|
NM_000321.3(RB1):c.1039T>C (p.Ser347Pro)
|
|
|
|
NM_000321.3(RB1):c.103C>G (p.Gln35Glu)
|
|
|
|
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr)
|
rs1295421967
|
|
|
NM_000321.3(RB1):c.1047C>G (p.Asp349Glu)
|
|
|
|
NM_000321.3(RB1):c.1047C>T (p.Asp349=)
|
|
|
|
NM_000321.3(RB1):c.1048A>T (p.Ser350Cys)
|
|
|
|
NM_000321.3(RB1):c.1049+5T>G
|
rs1593448511
|
|
|
NM_000321.3(RB1):c.1050-11T>G
|
|
|
|
NM_000321.3(RB1):c.1050T>G (p.Ser350Arg)
|
|
|
|
NM_000321.3(RB1):c.1051T>G (p.Phe351Val)
|
|
|
|
NM_000321.3(RB1):c.1054G>C (p.Glu352Gln)
|
|
|
|
NM_000321.3(RB1):c.1057A>G (p.Thr353Ala)
|
|
|
|
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro)
|
|
|
|
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser)
|
|
|
|
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro)
|
rs2138123180
|
|
|
NM_000321.3(RB1):c.1067CAC[1] (p.Pro357del)
|
|
|
|
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr)
|
|
|
|
NM_000321.3(RB1):c.106G>C (p.Asp36His)
|
|
|
|
NM_000321.3(RB1):c.1072C>G (p.Arg358Gly)
|
rs121913301
|
|
|
NM_000321.3(RB1):c.107A>G (p.Asp36Gly)
|
rs2138027852
|
|
|
NM_000321.3(RB1):c.1080T>G (p.Ser360Arg)
|
rs1198811715
|
|
|
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe)
|
rs1952727001
|
|
|
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)
|
rs1270702085
|
|
|
NM_000321.3(RB1):c.1096G>A (p.Val366Met)
|
rs1952727256
|
|
|
NM_000321.3(RB1):c.1098G>A (p.Val366=)
|
|
|
|
NM_000321.3(RB1):c.109A>C (p.Ser37Arg)
|
rs896487590
|
|
|
NM_000321.3(RB1):c.1102G>A (p.Val368Ile)
|
rs1049721
|
|
|
NM_000321.3(RB1):c.1102G>T (p.Val368Leu)
|
rs1049721
|
|
|
NM_000321.3(RB1):c.1107T>C (p.Ile369=)
|
rs587778856
|
|
|
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser)
|
rs1168863456
|
|
|
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser)
|
rs1952727399
|
|
|
NM_000321.3(RB1):c.1115A>T (p.His372Leu)
|
rs1015497370
|
|
|
NM_000321.3(RB1):c.1117A>T (p.Thr373Ser)
|
rs1952727463
|
|
|
NM_000321.3(RB1):c.111C>A (p.Ser37Arg)
|
|
|
|
NM_000321.3(RB1):c.1123G>C (p.Val375Leu)
|
rs1952727557
|
|
|
NM_000321.3(RB1):c.1126A>G (p.Arg376Gly)
|
rs1952727580
|
|
|
NM_000321.3(RB1):c.1127+5G>A
|
|
|
|
NM_000321.3(RB1):c.1127G>A (p.Arg376Lys)
|
rs1952727608
|
|
|
NM_000321.3(RB1):c.1128-3T>C
|
rs2138130844
|
|
|
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
|
|
|
|
NM_000321.3(RB1):c.1132G>A (p.Val378Ile)
|
|
|
|
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
|
|
|
|
NM_000321.3(RB1):c.1148A>G (p.Gln383Arg)
|
rs2138131004
|
|
|
NM_000321.3(RB1):c.1159A>G (p.Met387Val)
|
rs190689977
|
|
|
NM_000321.3(RB1):c.1159A>T (p.Met387Leu)
|
rs190689977
|
|
|
NM_000321.3(RB1):c.115C>A (p.Pro39Thr)
|
rs2138027915
|
|
|
NM_000321.3(RB1):c.1160T>C (p.Met387Thr)
|
rs767908749
|
|
|
NM_000321.3(RB1):c.1161G>T (p.Met387Ile)
|
|
|
|
NM_000321.3(RB1):c.1162A>C (p.Ile388Leu)
|
|
|
|
NM_000321.3(RB1):c.1162A>G (p.Ile388Val)
|
|
|
|
NM_000321.3(RB1):c.1163T>C (p.Ile388Thr)
|
rs373623059
|
|
|
NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup)
|
rs1375214454
|
|
|
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe)
|
rs1952784310
|
|
|
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
|
|
|
|
NM_000321.3(RB1):c.116C>G (p.Pro39Arg)
|
|
|
|
NM_000321.3(RB1):c.1171T>A (p.Ser391Thr)
|
|
|
|
NM_000321.3(RB1):c.1172C>T (p.Ser391Leu)
|
rs2138131143
|
|
|
NM_000321.3(RB1):c.1175C>G (p.Ala392Gly)
|
|
|
|
NM_000321.3(RB1):c.1178G>A (p.Ser393Asn)
|
|
|
|
NM_000321.3(RB1):c.1186C>T (p.Pro396Ser)
|
|
|
|
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)
|
|
|
|
NM_000321.3(RB1):c.118G>A (p.Glu40Lys)
|
rs1593412262
|
|
|
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp)
|
rs2138131269
|
|
|
NM_000321.3(RB1):c.119A>G (p.Glu40Gly)
|
|
|
|
NM_000321.3(RB1):c.1201A>T (p.Ile401Phe)
|
|
|
|
NM_000321.3(RB1):c.1204T>C (p.Ser402Pro)
|
|
|
|
NM_000321.3(RB1):c.1205C>G (p.Ser402Cys)
|
rs2138131310
|
|
|
NM_000321.3(RB1):c.1205C>T (p.Ser402Phe)
|
rs2138131310
|
|
|
NM_000321.3(RB1):c.1207T>A (p.Tyr403Asn)
|
rs2138131325
|
|
|
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)
|
|
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
|
NM_000321.3(RB1):c.1215+6C>A
|
|
|
|
NM_000321.3(RB1):c.1216-17_1216-16delinsTG
|
|
|
|
NM_000321.3(RB1):c.1218C>G (p.Asn406Lys)
|
|
|
|
NM_000321.3(RB1):c.1219T>C (p.Cys407Arg)
|
|
|
|
NM_000321.3(RB1):c.121G>A (p.Asp41Asn)
|
rs775161380
|
|
|
NM_000321.3(RB1):c.121G>C (p.Asp41His)
|
rs775161380
|
|
|
NM_000321.3(RB1):c.121G>T (p.Asp41Tyr)
|
rs775161380
|
|
|
NM_000321.3(RB1):c.1225G>A (p.Val409Met)
|
rs1952830946
|
|
|
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr)
|
rs1952831003
|
|
|
NM_000321.3(RB1):c.1230T>A (p.Asn410Lys)
|
|
|
|
NM_000321.3(RB1):c.1231C>A (p.Pro411Thr)
|
rs2138136242
|
|
|
NM_000321.3(RB1):c.1234A>G (p.Lys412Glu)
|
|
|
|
NM_000321.3(RB1):c.1236A>C (p.Lys412Asn)
|
|
|
|
NM_000321.3(RB1):c.1238A>C (p.Glu413Ala)
|
rs1462517568
|
|
|
NM_000321.3(RB1):c.1241G>A (p.Ser414Asn)
|
rs1952831176
|
|
|
NM_000321.3(RB1):c.1243A>G (p.Ile415Val)
|
rs1346693507
|
|
|
NM_000321.3(RB1):c.1245A>G (p.Ile415Met)
|
|
|
|
NM_000321.3(RB1):c.1247T>C (p.Leu416Pro)
|
|
|
|
NM_000321.3(RB1):c.124C>A (p.Leu42Met)
|
rs1312883856
|
|
|
NM_000321.3(RB1):c.124C>G (p.Leu42Val)
|
rs1312883856
|
|
|
NM_000321.3(RB1):c.1250A>G (p.Lys417Arg)
|
|
|
|
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys)
|
rs1952831579
|
|
|
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)
|
|
|
|
NM_000321.3(RB1):c.1259A>G (p.Lys420Arg)
|
rs2138136389
|
|
|
NM_000321.3(RB1):c.125T>A (p.Leu42Gln)
|
rs1593412272
|
|
|
NM_000321.3(RB1):c.125T>C (p.Leu42Pro)
|
rs1593412272
|
|
|
NM_000321.3(RB1):c.1266A>G (p.Ile422Met)
|
|
|
|
NM_000321.3(RB1):c.1267G>A (p.Gly423Arg)
|
rs2138136425
|
|
|
NM_000321.3(RB1):c.1274T>A (p.Ile425Asn)
|
rs1464633359
|
|
|
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr)
|
|
|
|
NM_000321.3(RB1):c.1275C>G (p.Ile425Met)
|
|
|
|
NM_000321.3(RB1):c.1283A>G (p.Glu428Gly)
|
rs1952831856
|
|
|
NM_000321.3(RB1):c.1287A>C (p.Lys429Asn)
|
|
|
|
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr)
|
rs965729205
|
|
|
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)
|
|
|
|
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr)
|
rs1166566395
|
|
|
NM_000321.3(RB1):c.130C>A (p.Leu44Ile)
|
rs1345893304
|
|
|
NM_000321.3(RB1):c.130C>G (p.Leu44Val)
|
rs1345893304
|
|
|
NM_000321.3(RB1):c.130C>T (p.Leu44Phe)
|
|
|
|
NM_000321.3(RB1):c.1310G>T (p.Gly437Val)
|
rs1952832211
|
|
|
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr)
|
rs1952832267
|
|
|
NM_000321.3(RB1):c.1313G>T (p.Cys438Phe)
|
rs1952832267
|
|
|
NM_000321.3(RB1):c.1322T>C (p.Ile441Thr)
|
|
|
|
NM_000321.3(RB1):c.1330C>A (p.Gln444Lys)
|
|
|
|
NM_000321.3(RB1):c.1332+3A>T
|
rs1952832685
|
|
|
NM_000321.3(RB1):c.1332+4A>G
|
rs2138136847
|
|
|
NM_000321.3(RB1):c.1333-13T>A
|
|
|
|
NM_000321.3(RB1):c.1336T>C (p.Tyr446His)
|
rs1948513840
|
|
|
NM_000321.3(RB1):c.133G>T (p.Val45Phe)
|
|
|
|
NM_000321.3(RB1):c.133_135del (p.Val45del)
|
|
|
|
NM_000321.3(RB1):c.1340A>G (p.Lys447Arg)
|
|
|
|
NM_000321.3(RB1):c.1348G>T (p.Val450Phe)
|
|
|
|
NM_000321.3(RB1):c.1351C>A (p.Arg451Ser)
|
|
|
|
NM_000321.3(RB1):c.1351C>G (p.Arg451Gly)
|
|
|
|
NM_000321.3(RB1):c.1352G>A (p.Arg451His)
|
rs1312442837
|
|
|
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp)
|
rs2138140900
|
|
|
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe)
|
rs201285819
|
|
|
NM_000321.3(RB1):c.1360_1363delinsGGAATCCATG (p.Tyr454_Arg455delinsGlyIleHisGly)
|
|
|
|
NM_000321.3(RB1):c.1363C>A (p.Arg455=)
|
|
|
|
NM_000321.3(RB1):c.1369A>G (p.Met457Val)
|
|
|
|
NM_000321.3(RB1):c.137+3G>A
|
|
|
|
NM_000321.3(RB1):c.137+4A>G
|
rs2138028119
|
|
|
NM_000321.3(RB1):c.137+6C>G
|
rs1273298763
|
|
|
NM_000321.3(RB1):c.137+6C>T
|
rs1273298763
|
|
|
NM_000321.3(RB1):c.1370T>C (p.Met457Thr)
|
|
|
|
NM_000321.3(RB1):c.1371G>A (p.Met457Ile)
|
rs1948514269
|
|
|
NM_000321.3(RB1):c.1373A>C (p.Glu458Ala)
|
rs1948514334
|
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
|
NM_000321.3(RB1):c.137G>C (p.Arg46Thr)
|
rs2138028088
|
|
|
NM_000321.3(RB1):c.1380G>A (p.Met460Ile)
|
rs1948514475
|
|
|
NM_000321.3(RB1):c.1389+4A>T
|
|
|
|
NM_000321.3(RB1):c.1389+6T>G
|
rs2138141082
|
|
|
NM_000321.3(RB1):c.1390-3C>A
|
|
|
|
NM_000321.3(RB1):c.1390G>A (p.Glu464Lys)
|
|
|
|
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del)
|
rs1948519753
|
|
|
NM_000321.3(RB1):c.1391A>C (p.Glu464Ala)
|
|
|
|
NM_000321.3(RB1):c.1393G>A (p.Glu465Lys)
|
|
|
|
NM_000321.3(RB1):c.1395A>C (p.Glu465Asp)
|
|
|
|
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly)
|
rs398123331
|
|
|
NM_000321.3(RB1):c.139C>T (p.Leu47Phe)
|
rs1952088853
|
|
|
NM_000321.3(RB1):c.13A>C (p.Thr5Pro)
|
rs898303682
|
|
|
NM_000321.3(RB1):c.13A>G (p.Thr5Ala)
|
rs898303682
|
|
|
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)
|
|
|
|
NM_000321.3(RB1):c.13del (p.Thr5fs)
|
|
|
|
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe)
|
rs2138142265
|
|
|
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr)
|
rs1243796201
|
|
|
NM_000321.3(RB1):c.1408A>T (p.Ile470Phe)
|
|
|
|
NM_000321.3(RB1):c.140T>G (p.Leu47Arg)
|
rs2138033812
|
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
|
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg)
|
rs1948520103
|
|
|
NM_000321.3(RB1):c.1421+4_1421+29del
|
rs2138142387
|
|
|
NM_000321.3(RB1):c.1421+5A>G
|
|
|
|
NM_000321.3(RB1):c.1422-12T>G
|
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
|
NM_000321.3(RB1):c.1424A>G (p.Lys475Arg)
|
rs1593456261
|
|
|
NM_000321.3(RB1):c.1429C>A (p.Leu477Met)
|
|
|
|
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly)
|
rs2138142793
|
|
|
NM_000321.3(RB1):c.1437C>T (p.Asp479=)
|
|
|
|
NM_000321.3(RB1):c.1439A>G (p.Asn480Ser)
|
rs1555286598
|
|
|
NM_000321.3(RB1):c.143A>G (p.Glu48Gly)
|
rs2138033826
|
|
|
NM_000321.3(RB1):c.1442T>C (p.Ile481Thr)
|
|
|
|
NM_000321.3(RB1):c.1443T>G (p.Ile481Met)
|
rs1948522676
|
|
|
NM_000321.3(RB1):c.1448A>T (p.His483Leu)
|
rs1948522736
|
|
|
NM_000321.3(RB1):c.1450A>G (p.Met484Val)
|
|
|
|
NM_000321.3(RB1):c.1453T>C (p.Ser485Pro)
|
rs1948522903
|
|
|
NM_000321.3(RB1):c.1454C>G (p.Ser485Cys)
|
rs1431881254
|
|
|
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
|
|
|
|
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly)
|
rs1948523129
|
|
|
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)
|
rs1131690877
|
|
|
NM_000321.3(RB1):c.1467C>G (p.Cys489Trp)
|
rs141608408
|
|
|
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser)
|
rs201458896
|
|
|
NM_000321.3(RB1):c.1472T>A (p.Leu491His)
|
rs587778848
|
|
|
NM_000321.3(RB1):c.1474G>A (p.Glu492Lys)
|
rs1060503084
|
|
|
NM_000321.3(RB1):c.1483A>T (p.Met495Leu)
|
|
|
|
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys)
|
rs1948523564
|
|
|
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)
|
rs774706300
|
|
|
NM_000321.3(RB1):c.1498+4A>G
|
|
|
|
NM_000321.3(RB1):c.1498+4A>T
|
|
|
|
NM_000321.3(RB1):c.1498+6T>A
|
rs2138143240
|
|
|
NM_000321.3(RB1):c.1498A>C (p.Arg500=)
|
rs1593456364
|
|
|
NM_000321.3(RB1):c.1499G>T (p.Arg500Ile)
|
rs1593456939
|
|
|
NM_000321.3(RB1):c.1500A>C (p.Arg500Ser)
|
rs1368944270
|
|
|
NM_000321.3(RB1):c.1502G>A (p.Ser501Asn)
|
rs2138144811
|
|
|
NM_000321.3(RB1):c.1506A>G (p.Thr502=)
|
rs1060503081
|
|
|
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr)
|
rs1948533141
|
|
|
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
|
|
|
|
NM_000321.3(RB1):c.1519G>C (p.Asp507His)
|
rs2138144909
|
|
|
NM_000321.3(RB1):c.1526G>C (p.Gly509Ala)
|
rs1555286684
|
|
|
NM_000321.3(RB1):c.1531G>C (p.Asp511His)
|
rs145729675
|
|
|
NM_000321.3(RB1):c.1531G>T (p.Asp511Tyr)
|
|
|
|
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly)
|
rs1948533324
|
|
|
NM_000321.3(RB1):c.1533T>A (p.Asp511Glu)
|
rs2138144990
|
|
|
NM_000321.3(RB1):c.1536G>T (p.Leu512Phe)
|
rs879124999
|
|
|
NM_000321.3(RB1):c.1537T>C (p.Ser513Pro)
|
|
|
|
NM_000321.3(RB1):c.1538C>T (p.Ser513Phe)
|
|
|
|
NM_000321.3(RB1):c.153A>C (p.Glu51Asp)
|
rs756860689
|
|
|
NM_000321.3(RB1):c.1540T>C (p.Phe514Leu)
|
rs2138145028
|
|
|
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser)
|
rs866664638
|
|
|
NM_000321.3(RB1):c.1546T>C (p.Trp516Arg)
|
rs138201027
|
|
|
NM_000321.3(RB1):c.1547G>C (p.Trp516Ser)
|
rs1555286687
|
|
|
NM_000321.3(RB1):c.154A>G (p.Thr52Ala)
|
|
|
|
NM_000321.3(RB1):c.1553T>C (p.Leu518Pro)
|
|
|
|
NM_000321.3(RB1):c.1558G>A (p.Val520Met)
|
|
|
|
NM_000321.3(RB1):c.1558G>C (p.Val520Leu)
|
|
|
|
NM_000321.3(RB1):c.155C>G (p.Thr52Arg)
|
rs780588550
|
|
|
NM_000321.3(RB1):c.1561C>G (p.Leu521Val)
|
|
|
|
NM_000321.3(RB1):c.1562T>A (p.Leu521His)
|
|
|
|
NM_000321.3(RB1):c.1564A>C (p.Asn522His)
|
|
|
|
NM_000321.3(RB1):c.1564A>G (p.Asn522Asp)
|
rs2138145139
|
|
|
NM_000321.3(RB1):c.156_164del (p.Glu53_Pro55del)
|
|
|
|
NM_000321.3(RB1):c.1574C>T (p.Ala525Val)
|
rs4151539
|
|
|
NM_000321.3(RB1):c.157GAA[1] (p.Glu54del)
|
rs1952089186
|
|
|
NM_000321.3(RB1):c.1581T>A (p.Asp527Glu)
|
rs1336947639
|
|
|
NM_000321.3(RB1):c.158A>C (p.Glu53Ala)
|
|
|
|
NM_000321.3(RB1):c.1594A>G (p.Ile532Val)
|
|
|
|
NM_000321.3(RB1):c.1594A>T (p.Ile532Phe)
|
rs2138145305
|
|
|
NM_000321.3(RB1):c.1595T>A (p.Ile532Asn)
|
rs1566199571
|
|
|
NM_000321.3(RB1):c.1596C>G (p.Ile532Met)
|
|
|
|
NM_000321.3(RB1):c.1597G>A (p.Glu533Lys)
|
rs1237070816
|
|
|
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln)
|
rs1237070816
|
|
|
NM_000321.3(RB1):c.159A>C (p.Glu53Asp)
|
|
|
|
NM_000321.3(RB1):c.1606A>G (p.Ile536Val)
|
rs1948534262
|
|
|
NM_000321.3(RB1):c.1608C>G (p.Ile536Met)
|
rs1948534275
|
|
|
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
|
|
|
|
NM_000321.3(RB1):c.1630A>G (p.Arg544Gly)
|
|
|
|
NM_000321.3(RB1):c.1632A>T (p.Arg544Ser)
|
rs143948310
|
|
|
NM_000321.3(RB1):c.1633G>C (p.Glu545Gln)
|
rs1948534542
|
|
|
NM_000321.3(RB1):c.163C>A (p.Pro55Thr)
|
|
|
|
NM_000321.3(RB1):c.163C>T (p.Pro55Ser)
|
rs769618862
|
|
|
NM_000321.3(RB1):c.1645C>A (p.His549Asn)
|
rs1050717570
|
|
|
NM_000321.3(RB1):c.1646A>G (p.His549Arg)
|
rs2138145592
|
|
|
NM_000321.3(RB1):c.164C>G (p.Pro55Arg)
|
|
|
|
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
|
|
|
|
NM_000321.3(RB1):c.1657T>A (p.Cys553Ser)
|
rs1948534757
|
|
|
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)
|
|
|
|
NM_000321.3(RB1):c.1663C>T (p.His555Tyr)
|
rs772222746
|
|
|
NM_000321.3(RB1):c.1664A>G (p.His555Arg)
|
rs1555286700
|
|
|
NM_000321.3(RB1):c.1667G>T (p.Arg556Leu)
|
rs773116120
|
|
|
NM_000321.3(RB1):c.1669A>C (p.Ile557Leu)
|
rs1948534909
|
|
|
NM_000321.3(RB1):c.1669A>G (p.Ile557Val)
|
rs1948534909
|
|
|
NM_000321.3(RB1):c.1672A>C (p.Met558Leu)
|
rs1419550675
|
|
|
NM_000321.3(RB1):c.1672A>G (p.Met558Val)
|
rs1419550675
|
|
|
NM_000321.3(RB1):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
|
|
|
|
NM_000321.3(RB1):c.1678T>C (p.Ser560Pro)
|
rs1593457138
|
|
|
NM_000321.3(RB1):c.1684G>C (p.Ala562Pro)
|
rs2138145788
|
|
|
NM_000321.3(RB1):c.1685C>T (p.Ala562Val)
|
rs1948535194
|
|
|
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)
|
|
|
|
NM_000321.3(RB1):c.1690C>T (p.Leu564Phe)
|
|
|
|
NM_000321.3(RB1):c.1693T>C (p.Ser565Pro)
|
|
|
|
NM_000321.3(RB1):c.1695+2dup
|
rs1566199647
|
|
|
NM_000321.3(RB1):c.1695+4A>G
|
rs1455944671
|
|
|
NM_000321.3(RB1):c.1695A>C (p.Ser565=)
|
rs2138145848
|
|
|
NM_000321.3(RB1):c.1695A>G (p.Ser565=)
|
|
|
|
NM_000321.3(RB1):c.1696-11G>T
|
rs1949337308
|
|
|
NM_000321.3(RB1):c.1696-3T>C
|
|
|
|
NM_000321.3(RB1):c.1696-5T>G
|
rs1593529861
|
|
|
NM_000321.3(RB1):c.1696-7964C>T
|
|
|
|
NM_000321.3(RB1):c.1699T>C (p.Ser567Pro)
|
rs2138326970
|
|
|
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe)
|
rs3092895
|
|
|
NM_000321.3(RB1):c.1710T>A (p.Phe570Leu)
|
|
|
|
NM_000321.3(RB1):c.1712A>T (p.Asp571Val)
|
|
|
|
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
|
|
|
|
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu)
|
rs1593529910
|
|
|
NM_000321.3(RB1):c.172A>G (p.Thr58Ala)
|
rs1593414365
|
|
|
NM_000321.3(RB1):c.1731G>C (p.Lys577Asn)
|
rs1949337837
|
|
|
NM_000321.3(RB1):c.1731G>T (p.Lys577Asn)
|
rs1949337837
|
|
|
NM_000321.3(RB1):c.1735C>G (p.Arg579Gly)
|
|
|
|
NM_000321.3(RB1):c.173C>G (p.Thr58Ser)
|
|
|
|
NM_000321.3(RB1):c.1742G>T (p.Gly581Val)
|
|
|
|
NM_000321.3(RB1):c.1753C>A (p.His585Asn)
|
|
|
|
NM_000321.3(RB1):c.1753C>G (p.His585Asp)
|
rs1401332173
|
|
|
NM_000321.3(RB1):c.1753C>T (p.His585Tyr)
|
rs1401332173
|
|
|
NM_000321.3(RB1):c.1756C>T (p.Leu586Phe)
|
rs2138327178
|
|
|
NM_000321.3(RB1):c.175G>A (p.Ala59Thr)
|
|
|
|
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe)
|
rs1555293637
|
|
|
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr)
|
rs1949338354
|
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
|
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)
|
rs1060503089
|
|
|
NM_000321.3(RB1):c.1769G>T (p.Cys590Phe)
|
rs1949338458
|
|
|
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)
|
rs1221157259
|
|
|
NM_000321.3(RB1):c.1779T>A (p.Asn593Lys)
|
rs2138327277
|
|
|
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser)
|
rs1949338684
|
|
|
NM_000321.3(RB1):c.1784C>T (p.Pro595Leu)
|
|
|
|
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys)
|
rs1566233076
|
|
|
NM_000321.3(RB1):c.1790A>G (p.Gln597Arg)
|
rs1949338800
|
|
|
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser)
|
|
|
|
NM_000321.3(RB1):c.17C>A (p.Pro6His)
|
rs755482658
|
|
|
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser)
|
rs910909092
|
|
|
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
|
|
|
|
NM_000321.3(RB1):c.1807G>A (p.Ala603Thr)
|
rs777791058
|
|
|
NM_000321.3(RB1):c.180A>C (p.Leu60Phe)
|
rs878853948
|
|
|
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn)
|
rs2138327415
|
|
|
NM_000321.3(RB1):c.1811A>G (p.Asp604Gly)
|
rs1949339014
|
|
|
NM_000321.3(RB1):c.1813A>G (p.Met605Val)
|
|
|
|
NM_000321.3(RB1):c.1814+12A>G
|
|
|
|
NM_000321.3(RB1):c.1814T>C (p.Met605Thr)
|
rs1555293654
|
|
|
NM_000321.3(RB1):c.1815-1G>C
|
rs1593531874
|
|
|
NM_000321.3(RB1):c.1815-3T>G
|
rs2138330949
|
|
|
NM_000321.3(RB1):c.1823C>A (p.Ser608Tyr)
|
|
|
|
NM_000321.3(RB1):c.1823C>G (p.Ser608Cys)
|
|
|
|
NM_000321.3(RB1):c.1826C>T (p.Pro609Leu)
|
|
|
|
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
|
|
|
|
NM_000321.3(RB1):c.1828G>T (p.Val610Leu)
|
rs762613976
|
|
|
NM_000321.3(RB1):c.1829T>C (p.Val610Ala)
|
rs934931283
|
|
|
NM_000321.3(RB1):c.182G>A (p.Cys61Tyr)
|
rs1593414390
|
|
|
NM_000321.3(RB1):c.1832G>A (p.Arg611Lys)
|
|
|
|
NM_000321.3(RB1):c.1833A>G (p.Arg611=)
|
|
|
|
NM_000321.3(RB1):c.1837C>T (p.Pro613Ser)
|
rs1555293835
|
|
|
NM_000321.3(RB1):c.1838C>T (p.Pro613Leu)
|
rs1949358874
|
|
|
NM_000321.3(RB1):c.1841A>G (p.Lys614Arg)
|
rs2138331098
|
|
|
NM_000321.3(RB1):c.1843A>G (p.Lys615Glu)
|
|
|
|
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg)
|
rs1334513810
|
|
|
NM_000321.3(RB1):c.1847A>G (p.Lys616Arg)
|
|
|
|
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
|
|
|
|
NM_000321.3(RB1):c.184C>A (p.Gln62Lys)
|
|
|
|
NM_000321.3(RB1):c.1850G>T (p.Gly617Val)
|
|
|
|
NM_000321.3(RB1):c.1855A>G (p.Thr619Ala)
|
|
|
|
NM_000321.3(RB1):c.1859C>A (p.Thr620Lys)
|
rs554834063
|
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
|
NM_000321.3(RB1):c.1862G>C (p.Arg621Pro)
|
|
|
|
NM_000321.3(RB1):c.1864G>A (p.Val622Ile)
|
rs2138331204
|
|
|
NM_000321.3(RB1):c.1864G>T (p.Val622Leu)
|
|
|
|
NM_000321.3(RB1):c.1865T>C (p.Val622Ala)
|
|
|
|
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly)
|
rs1329826610
|
|
|
NM_000321.3(RB1):c.1883C>T (p.Ala628Val)
|
rs1329826610
|
|
|
NM_000321.3(RB1):c.1886A>G (p.Glu629Gly)
|
|
|
|
NM_000321.3(RB1):c.1889C>T (p.Thr630Ile)
|
rs1593532012
|
|
|
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)
|
rs1593532019
|
|
|
NM_000321.3(RB1):c.1893del (p.Ala632fs)
|
|
|
|
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu)
|
rs1949359489
|
|
|
NM_000321.3(RB1):c.1897A>G (p.Thr633Ala)
|
|
|
|
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn)
|
rs587778641
|
|
|
NM_000321.3(RB1):c.1903G>T (p.Ala635Ser)
|
rs1949359622
|
|
|
NM_000321.3(RB1):c.1904C>G (p.Ala635Gly)
|
rs1593532038
|
|
|
NM_000321.3(RB1):c.1904C>T (p.Ala635Val)
|
|
|
|
NM_000321.3(RB1):c.1906T>C (p.Phe636Leu)
|
|
|
|
NM_000321.3(RB1):c.1908C>G (p.Phe636Leu)
|
rs2138331404
|
|
|
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg)
|
rs775880919
|
|
|
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln)
|
|
|
|
NM_000321.3(RB1):c.1919A>C (p.Lys640Thr)
|
rs1949359821
|
|
|
NM_000321.3(RB1):c.1924T>G (p.Leu642Val)
|
rs1949359922
|
|
|
NM_000321.3(RB1):c.1934C>T (p.Thr645Ile)
|
rs2138331549
|
|
|
NM_000321.3(RB1):c.1936T>C (p.Ser646Pro)
|
rs2138331564
|
|
|
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys)
|
rs1173892082
|
|
|
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro)
|
rs2138331582
|
|
|
NM_000321.3(RB1):c.1942T>A (p.Ser648Thr)
|
|
|
|
NM_000321.3(RB1):c.1945C>G (p.Leu649Val)
|
|
|
|
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro)
|
|
|
|
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg)
|
|
|
|
NM_000321.3(RB1):c.1960+3T>C
|
rs1949360348
|
|
|
NM_000321.3(RB1):c.1960+6T>C
|
|
|
|
NM_000321.3(RB1):c.1960+6T>G
|
rs1949360394
|
|
|
NM_000321.3(RB1):c.1961T>A (p.Val654Glu)
|
rs769113950
|
|
|
NM_000321.3(RB1):c.1961T>C (p.Val654Ala)
|
rs769113950
|
|
|
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
|
|
|
|
NM_000321.3(RB1):c.1963T>C (p.Tyr655His)
|
|
|
|
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
|
|
|
|
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys)
|
rs774196937
|
|
|
NM_000321.3(RB1):c.1964A>T (p.Tyr655Phe)
|
rs774196937
|
|
|
NM_000321.3(RB1):c.196A>G (p.Ile66Val)
|
rs1952089702
|
|
|
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)
|
rs587778834
|
|
|
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
|
|
|
|
NM_000321.3(RB1):c.1985T>A (p.Leu662Gln)
|
|
|
|
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile)
|
rs749739772
|
|
|
NM_000321.3(RB1):c.1993C>T (p.Leu665Phe)
|
|
|
|
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)
|
rs483352689
|
|
|
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg)
|
rs1949383921
|
|
|
NM_000321.3(RB1):c.199C>T (p.Pro67Ser)
|
rs1952089775
|
|
|
NM_000321.3(RB1):c.1A>T (p.Met1Leu)
|
rs2138026940
|
|
|
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)
|
rs369755801
|
|
|
NM_000321.3(RB1):c.2006T>C (p.Leu669Pro)
|
rs1949384058
|
|
|
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
|
|
|
|
NM_000321.3(RB1):c.2017C>T (p.His673Tyr)
|
|
|
|
NM_000321.3(RB1):c.2018A>G (p.His673Arg)
|
|
|
|
NM_000321.3(RB1):c.2019C>G (p.His673Gln)
|
rs1949384169
|
|
|
NM_000321.3(RB1):c.2020C>T (p.Pro674Ser)
|
rs1949384188
|
|
|
NM_000321.3(RB1):c.2021C>G (p.Pro674Arg)
|
|
|
|
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser)
|
rs1566235448
|
|
|
NM_000321.3(RB1):c.202G>A (p.Asp68Asn)
|
|
|
|
NM_000321.3(RB1):c.2030A>G (p.Glu677Gly)
|
rs1949384321
|
|
|
NM_000321.3(RB1):c.2033A>G (p.His678Arg)
|
rs201046651
|
|
|
NM_000321.3(RB1):c.2035A>C (p.Ile679Leu)
|
|
|
|
NM_000321.3(RB1):c.2035A>G (p.Ile679Val)
|
rs897199998
|
|
|
NM_000321.3(RB1):c.203A>G (p.Asp68Gly)
|
rs1952089852
|
|
|
NM_000321.3(RB1):c.2051T>C (p.Phe684Ser)
|
|
|
|
NM_000321.3(RB1):c.2056C>A (p.His686Asn)
|
|
|
|
NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)
|
|
|
|
NM_000321.3(RB1):c.205C>G (p.His69Asp)
|
|
|
|
NM_000321.3(RB1):c.2069A>G (p.Asn690Ser)
|
rs1949384761
|
|
|
NM_000321.3(RB1):c.206A>G (p.His69Arg)
|
rs776591592
|
|
|
NM_000321.3(RB1):c.2070T>A (p.Asn690Lys)
|
|
|
|
NM_000321.3(RB1):c.2071G>A (p.Glu691Lys)
|
rs1593534748
|
|
|
NM_000321.3(RB1):c.2075A>G (p.Tyr692Cys)
|
rs1294102595
|
|
|
NM_000321.3(RB1):c.2078A>T (p.Glu693Val)
|
|
|
|
NM_000321.3(RB1):c.208G>A (p.Val70Ile)
|
rs2138034226
|
|
|
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
|
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
|
NM_000321.3(RB1):c.2106+2T>C
|
rs1566235515
|
|
|
NM_000321.3(RB1):c.2106+3A>G
|
rs1353683992
|
|
|
NM_000321.3(RB1):c.2107-13A>G
|
rs773509289
|
|
|
NM_000321.3(RB1):c.2107-3T>G
|
rs1949419453
|
|
|
NM_000321.3(RB1):c.2108T>C (p.Ile703Thr)
|
|
|
|
NM_000321.3(RB1):c.2113A>T (p.Met705Leu)
|
|
|
|
NM_000321.3(RB1):c.2114T>A (p.Met705Lys)
|
rs2138342236
|
|
|
NM_000321.3(RB1):c.2122A>C (p.Met708Leu)
|
|
|
|
NM_000321.3(RB1):c.2122A>G (p.Met708Val)
|
|
|
|
NM_000321.3(RB1):c.2123T>C (p.Met708Thr)
|
rs2138342287
|
|
|
NM_000321.3(RB1):c.2124G>A (p.Met708Ile)
|
|
|
|
NM_000321.3(RB1):c.2134T>A (p.Cys712Ser)
|
rs137853296
|
|
|
NM_000321.3(RB1):c.2134T>G (p.Cys712Gly)
|
rs137853296
|
|
|
NM_000321.3(RB1):c.2150T>C (p.Ile717Thr)
|
|
|
|
NM_000321.3(RB1):c.2151A>G (p.Ile717Met)
|
rs1555294518
|
|
|
NM_000321.3(RB1):c.2152G>C (p.Asp718His)
|
rs2138342396
|
|
|
NM_000321.3(RB1):c.2154C>A (p.Asp718Glu)
|
rs1949419727
|
|
|
NM_000321.3(RB1):c.2155C>G (p.Leu719Val)
|
|
|
|
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
|
|
|
|
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
|
|
|
|
NM_000321.3(RB1):c.2185A>G (p.Lys729Glu)
|
rs2138342593
|
|
|
NM_000321.3(RB1):c.2186A>G (p.Lys729Arg)
|
rs150600740
|
|
|
NM_000321.3(RB1):c.2188G>C (p.Asp730His)
|
|
|
|
NM_000321.3(RB1):c.218G>C (p.Arg73Thr)
|
|
|
|
NM_000321.3(RB1):c.2191C>A (p.Leu731Ile)
|
rs2138342639
|
|
|
NM_000321.3(RB1):c.2191C>G (p.Leu731Val)
|
rs2138342639
|
|
|
NM_000321.3(RB1):c.2194C>T (p.Pro732Ser)
|
rs2138342656
|
|
|
NM_000321.3(RB1):c.2198A>G (p.His733Arg)
|
rs778503152
|
|
|
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro)
|
rs1372842030
|
|
|
NM_000321.3(RB1):c.2208G>C (p.Gln736His)
|
rs2138342726
|
|
|
NM_000321.3(RB1):c.2209G>A (p.Glu737Lys)
|
|
|
|
NM_000321.3(RB1):c.220G>A (p.Ala74Thr)
|
rs1952090208
|
|
|
NM_000321.3(RB1):c.2211+4G>C
|
rs1060503076
|
|
|
NM_000321.3(RB1):c.2211+4G>T
|
rs1060503076
|
|
|
NM_000321.3(RB1):c.2211+6T>G
|
|
|
|
NM_000321.3(RB1):c.2212-3C>G
|
|
|
|
NM_000321.3(RB1):c.2213C>A (p.Thr738Lys)
|
|
|
|
NM_000321.3(RB1):c.221C>G (p.Ala74Gly)
|
rs764472420
|
|
|
NM_000321.3(RB1):c.2221C>A (p.Arg741Ser)
|
rs529366765
|
|
|
NM_000321.3(RB1):c.2224G>C (p.Val742Leu)
|
rs1060503083
|
|
|
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
|
|
|
|
NM_000321.3(RB1):c.2231T>G (p.Ile744Ser)
|
|
|
|
NM_000321.3(RB1):c.2232C>G (p.Ile744Met)
|
|
|
|
NM_000321.3(RB1):c.2233A>G (p.Lys745Glu)
|
|
|
|
NM_000321.3(RB1):c.2234A>G (p.Lys745Arg)
|
|
|
|
NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)
|
|
|
|
NM_000321.3(RB1):c.2236G>C (p.Glu746Gln)
|
rs958914211
|
|
|
NM_000321.3(RB1):c.2239G>A (p.Glu747Lys)
|
rs1593539163
|
|
|
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del)
|
rs2138344648
|
|
|
NM_000321.3(RB1):c.2241G>C (p.Glu747Asp)
|
|
|
|
NM_000321.3(RB1):c.2244G>C (p.Glu748Asp)
|
rs1131690911
|
|
|
NM_000321.3(RB1):c.2246A>C (p.Tyr749Ser)
|
|
|
|
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys)
|
|
|
|
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)
|
|
|
|
NM_000321.3(RB1):c.2254A>C (p.Ile752Leu)
|
rs1555294601
|
|
|
NM_000321.3(RB1):c.2254A>G (p.Ile752Val)
|
rs1555294601
|
|
|
NM_000321.3(RB1):c.2260G>C (p.Val754Leu)
|
rs587778642
|
|
|
NM_000321.3(RB1):c.2261T>C (p.Val754Ala)
|
|
|
|
NM_000321.3(RB1):c.2261T>G (p.Val754Gly)
|
|
|
|
NM_000321.3(RB1):c.2267_2272del (p.Tyr756_Asn757del)
|
|
|
|
NM_000321.3(RB1):c.2281A>T (p.Met761Leu)
|
|
|
|
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys)
|
rs1593539225
|
|
|
NM_000321.3(RB1):c.2285A>T (p.Gln762Leu)
|
rs1593539228
|
|
|
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys)
|
rs2138344904
|
|
|
NM_000321.3(RB1):c.2294A>G (p.Lys765Arg)
|
rs2138344931
|
|
|
NM_000321.3(RB1):c.2294_2296del (p.Lys765del)
|
|
|
|
NM_000321.3(RB1):c.2297C>T (p.Thr766Ile)
|
rs1949431128
|
|
|
NM_000321.3(RB1):c.2299A>G (p.Asn767Asp)
|
|
|
|
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)
|
|
|
|
NM_000321.3(RB1):c.2311T>C (p.Tyr771His)
|
rs746038522
|
|
|
NM_000321.3(RB1):c.2315C>T (p.Ala772Val)
|
rs2138345026
|
|
|
NM_000321.3(RB1):c.2320A>G (p.Thr774Ala)
|
rs2138345047
|
|
|
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys)
|
rs1593539271
|
|
|
NM_000321.3(RB1):c.2325+3_2325+5del
|
rs2138345090
|
|
|
NM_000321.3(RB1):c.2325+4G>A
|
rs775640888
|
|
|
NM_000321.3(RB1):c.2325+5G>T
|
|
|
|
NM_000321.3(RB1):c.2325+6T>G
|
rs2138345102
|
|
|
NM_000321.3(RB1):c.2325G>T (p.Arg775Ser)
|
|
|
|
NM_000321.3(RB1):c.2326C>G (p.Pro776Ala)
|
|
|
|
NM_000321.3(RB1):c.2327C>A (p.Pro776His)
|
rs912203557
|
|
|
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile)
|
rs1593539364
|
|
|
NM_000321.3(RB1):c.2342C>T (p.Pro781Leu)
|
|
|
|
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr)
|
rs1949432262
|
|
|
NM_000321.3(RB1):c.2346A>G (p.Ile782Met)
|
|
|
|
NM_000321.3(RB1):c.2351A>T (p.His784Leu)
|
|
|
|
NM_000321.3(RB1):c.2353A>C (p.Ile785Leu)
|
rs2138345573
|
|
|
NM_000321.3(RB1):c.2353A>G (p.Ile785Val)
|
rs2138345573
|
|
|
NM_000321.3(RB1):c.2357C>A (p.Pro786His)
|
|
|
|
NM_000321.3(RB1):c.2357C>T (p.Pro786Leu)
|
|
|
|
NM_000321.3(RB1):c.2359C>G (p.Arg787Gly)
|
rs137853293
|
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
|
NM_000321.3(RB1):c.235G>C (p.Glu79Gln)
|
rs1060503090
|
|
|
NM_000321.3(RB1):c.2364C>G (p.Ser788Arg)
|
|
|
|
NM_000321.3(RB1):c.2365C>T (p.Pro789Ser)
|
rs1949432512
|
|
|
NM_000321.3(RB1):c.2366C>A (p.Pro789His)
|
|
|
|
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu)
|
rs1467492987
|
|
|
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg)
|
rs777670056
|
|
|
NM_000321.3(RB1):c.2375T>C (p.Phe792Ser)
|
rs2138345676
|
|
|
NM_000321.3(RB1):c.2377C>T (p.Pro793Ser)
|
rs947540268
|
|
|
NM_000321.3(RB1):c.2386C>A (p.Pro796Thr)
|
|
|
|
NM_000321.3(RB1):c.2386C>T (p.Pro796Ser)
|
|
|
|
NM_000321.3(RB1):c.2389T>A (p.Leu797Ile)
|
|
|
|
NM_000321.3(RB1):c.2389T>G (p.Leu797Val)
|
|
|
|
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn)
|
|
|
|
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr)
|
|
|
|
NM_000321.3(RB1):c.2398C>T (p.Pro800Ser)
|
rs1949432999
|
|
|
NM_000321.3(RB1):c.2401G>A (p.Gly801Arg)
|
rs2138345814
|
|
|
NM_000321.3(RB1):c.2403del (p.Asn803fs)
|
|
|
|
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
|
|
|
|
NM_000321.3(RB1):c.2414A>G (p.Tyr805Cys)
|
|
|
|
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
|
|
|
|
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly)
|
rs1371240619
|
|
|
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn)
|
rs1220980701
|
|
|
NM_000321.3(RB1):c.2432G>C (p.Ser811Thr)
|
|
|
|
NM_000321.3(RB1):c.2433T>A (p.Ser811Arg)
|
|
|
|
NM_000321.3(RB1):c.2438A>G (p.Tyr813Cys)
|
|
|
|
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr)
|
rs1566237785
|
|
|
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg)
|
rs1566237785
|
|
|
NM_000321.3(RB1):c.2442A>C (p.Lys814Asn)
|
rs1566237790
|
|
|
NM_000321.3(RB1):c.2449G>C (p.Glu817Gln)
|
rs762271261
|
|
|
NM_000321.3(RB1):c.244T>A (p.Ser82Thr)
|
|
|
|
NM_000321.3(RB1):c.2450A>G (p.Glu817Gly)
|
rs1949433558
|
|
|
NM_000321.3(RB1):c.2450_2452del (p.Glu817del)
|
|
|
|
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp)
|
rs1949433617
|
|
|
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
|
|
|
|
NM_000321.3(RB1):c.2467A>G (p.Thr823Ala)
|
|
|
|
NM_000321.3(RB1):c.2473A>G (p.Met825Val)
|
rs2138346201
|
|
|
NM_000321.3(RB1):c.2475G>A (p.Met825Ile)
|
rs1949433927
|
|
|
NM_000321.3(RB1):c.2475G>T (p.Met825Ile)
|
|
|
|
NM_000321.3(RB1):c.2479C>G (p.Pro827Ala)
|
rs1949433950
|
|
|
NM_000321.3(RB1):c.2485T>A (p.Ser829Thr)
|
rs2138346264
|
|
|
NM_000321.3(RB1):c.2486C>T (p.Ser829Leu)
|
|
|
|
NM_000321.3(RB1):c.2489+4T>C
|
|
|
|
NM_000321.3(RB1):c.2489+5G>A
|
rs1949434078
|
|
|
NM_000321.3(RB1):c.2489+5G>C
|
|
|
|
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
|
|
|
|
NM_000321.3(RB1):c.248C>T (p.Ser83Phe)
|
rs1593414429
|
|
|
NM_000321.3(RB1):c.2490-10_2490-6del
|
rs1224162129
|
|
|
NM_000321.3(RB1):c.2490-30A>C
|
|
|
|
NM_000321.3(RB1):c.2491A>C (p.Ile831Leu)
|
rs761068783
|
|
|
NM_000321.3(RB1):c.2493C>G (p.Ile831Met)
|
|
|
|
NM_000321.3(RB1):c.2497G>A (p.Val833Ile)
|
rs2138354621
|
|
|
NM_000321.3(RB1):c.2497G>C (p.Val833Leu)
|
|
|
|
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
|
|
|
|
NM_000321.3(RB1):c.2501C>T (p.Ser834Leu)
|
rs1131690906
|
|
|
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
|
|
|
|
NM_000321.3(RB1):c.2511A>G (p.Glu837=)
|
rs1949484299
|
|
|
NM_000321.3(RB1):c.2512T>C (p.Ser838Pro)
|
rs1949484337
|
|
|
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg)
|
rs374157786
|
|
|
NM_000321.3(RB1):c.2518G>T (p.Gly840Trp)
|
rs374157786
|
|
|
NM_000321.3(RB1):c.2520+3G>A
|
rs868434367
|
|
|
NM_000321.3(RB1):c.2520G>T (p.Gly840=)
|
rs1949484533
|
|
|
NM_000321.3(RB1):c.2521-10T>A
|
|
|
|
NM_000321.3(RB1):c.2522C>G (p.Thr841Ser)
|
|
|
|
NM_000321.3(RB1):c.2522C>T (p.Thr841Ile)
|
rs1358216534
|
|
|
NM_000321.3(RB1):c.2527G>C (p.Glu843Gln)
|
rs1566240914
|
|
|
NM_000321.3(RB1):c.2528A>G (p.Glu843Gly)
|
rs1949505926
|
|
|
NM_000321.3(RB1):c.2528A>T (p.Glu843Val)
|
rs1949505926
|
|
|
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)
|
rs754183765
|
|
|
NM_000321.3(RB1):c.2539A>C (p.Lys847Gln)
|
|
|
|
NM_000321.3(RB1):c.2539A>G (p.Lys847Glu)
|
rs2138358973
|
|
|
NM_000321.3(RB1):c.254A>G (p.Asp85Gly)
|
rs1952090656
|
|
|
NM_000321.3(RB1):c.2552T>C (p.Met851Thr)
|
rs1566240932
|
|
|
NM_000321.3(RB1):c.2555T>G (p.Val852Gly)
|
|
|
|
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly)
|
rs1295589257
|
|
|
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr)
|
rs1566240940
|
|
|
NM_000321.3(RB1):c.2560A>G (p.Asn854Asp)
|
|
|
|
NM_000321.3(RB1):c.2566G>C (p.Asp856His)
|
|
|
|
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr)
|
rs149359120
|
|
|
NM_000321.3(RB1):c.2567A>G (p.Asp856Gly)
|
rs1555295331
|
|
|
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu)
|
rs144668210
|
|
|
NM_000321.3(RB1):c.2586T>G (p.Ser862Arg)
|
rs1593547157
|
|
|
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr)
|
rs1949506505
|
|
|
NM_000321.3(RB1):c.2590G>A (p.Glu864Lys)
|
rs2138359266
|
|
|
NM_000321.3(RB1):c.2591A>G (p.Glu864Gly)
|
rs1949506524
|
|
|
NM_000321.3(RB1):c.2593G>A (p.Gly865Arg)
|
rs1949506548
|
|
|
NM_000321.3(RB1):c.2593_2594delinsCA (p.Gly865Gln)
|
rs2138359294
|
|
|
NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)
|
|
|
|
NM_000321.3(RB1):c.2598C>A (p.Ser866Arg)
|
rs1949506601
|
|
|
NM_000321.3(RB1):c.2599A>G (p.Asn867Asp)
|
rs1949506622
|
|
|
NM_000321.3(RB1):c.259G>A (p.Val87Ile)
|
|
|
|
NM_000321.3(RB1):c.25A>C (p.Thr9Pro)
|
|
|
|
NM_000321.3(RB1):c.2601C>A (p.Asn867Lys)
|
rs1566240970
|
|
|
NM_000321.3(RB1):c.2601C>G (p.Asn867Lys)
|
rs1566240970
|
|
|
NM_000321.3(RB1):c.2603C>T (p.Pro868Leu)
|
rs769539980
|
|
|
NM_000321.3(RB1):c.2612C>T (p.Pro871Leu)
|
rs1949506762
|
|
|
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)
|
rs1470516350
|
|
|
NM_000321.3(RB1):c.2627G>A (p.Arg876His)
|
rs767232453
|
|
|
NM_000321.3(RB1):c.263T>G (p.Leu88Trp)
|
rs1555279518
|
|
|
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
|
|
|
|
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala)
|
rs1949507139
|
|
|
NM_000321.3(RB1):c.2644T>G (p.Ser882Ala)
|
|
|
|
NM_000321.3(RB1):c.264G>C (p.Leu88Phe)
|
rs1952090786
|
|
|
NM_000321.3(RB1):c.265-8del
|
rs1952455310
|
|
|
NM_000321.3(RB1):c.2654C>A (p.Ala885Glu)
|
rs758494086
|
|
|
NM_000321.3(RB1):c.2659G>A (p.Gly887Arg)
|
rs777789154
|
|
|
NM_000321.3(RB1):c.265G>A (p.Gly89Arg)
|
rs1952455387
|
|
|
NM_000321.3(RB1):c.2660G>A (p.Gly887Glu)
|
rs1566241021
|
|
|
NM_000321.3(RB1):c.2660G>C (p.Gly887Ala)
|
rs1566241021
|
|
|
NM_000321.3(RB1):c.2663+4G>A
|
rs1949507415
|
|
|
NM_000321.3(RB1):c.2663+6A>G
|
rs2138359698
|
|
|
NM_000321.3(RB1):c.266G>A (p.Gly89Glu)
|
rs371655281
|
|
|
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
|
|
|
|
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
|
|
|
|
NM_000321.3(RB1):c.2675C>T (p.Pro892Leu)
|
|
|
|
NM_000321.3(RB1):c.2677G>A (p.Gly893Arg)
|
rs1566241168
|
|
|
NM_000321.3(RB1):c.2678G>T (p.Gly893Val)
|
|
|
|
NM_000321.3(RB1):c.2680G>C (p.Glu894Gln)
|
|
|
|
NM_000321.3(RB1):c.2683T>A (p.Ser895Thr)
|
|
|
|
NM_000321.3(RB1):c.2684C>G (p.Ser895Cys)
|
|
|
|
NM_000321.3(RB1):c.2687A>G (p.Lys896Arg)
|
rs2138360885
|
|
|
NM_000321.3(RB1):c.2692C>T (p.Gln898Ter)
|
rs1566241180
|
|
|
NM_000321.3(RB1):c.26C>G (p.Thr9Arg)
|
rs1952051803
|
|
|
NM_000321.3(RB1):c.26C>T (p.Thr9Met)
|
rs1952051803
|
|
|
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr)
|
|
|
|
NM_000321.3(RB1):c.2707G>C (p.Glu903Gln)
|
|
|
|
NM_000321.3(RB1):c.2712G>A (p.Met904Ile)
|
|
|
|
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)
|
rs1461167778
|
|
|
NM_000321.3(RB1):c.2714-16_2714-14del
|
|
|
|
NM_000321.3(RB1):c.2714C>T (p.Thr905Ile)
|
|
|
|
NM_000321.3(RB1):c.2726C>T (p.Thr909Ile)
|
rs761999108
|
|
|
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln)
|
rs1360367329
|
|
|
NM_000321.3(RB1):c.2733G>T (p.Met911Ile)
|
rs2138364425
|
|
|
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg)
|
rs1949528429
|
|
|
NM_000321.3(RB1):c.2738A>G (p.Lys913Arg)
|
rs2138364453
|
|
|
NM_000321.3(RB1):c.2746A>C (p.Met916Leu)
|
rs1949528459
|
|
|
NM_000321.3(RB1):c.2747T>C (p.Met916Thr)
|
|
|
|
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser)
|
rs1475201975
|
|
|
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly)
|
rs1555295597
|
|
|
NM_000321.3(RB1):c.2758A>G (p.Met920Val)
|
|
|
|
NM_000321.3(RB1):c.275T>G (p.Ile92Ser)
|
|
|
|
NM_000321.3(RB1):c.2760G>A (p.Met920Ile)
|
rs1949528633
|
|
|
NM_000321.3(RB1):c.2761G>A (p.Asp921Asn)
|
rs1949528654
|
|
|
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala)
|
rs1949528678
|
|
|
NM_000321.3(RB1):c.2765C>T (p.Thr922Ile)
|
|
|
|
NM_000321.3(RB1):c.2768C>T (p.Ser923Leu)
|
rs2138364560
|
|
|
NM_000321.3(RB1):c.276T>G (p.Ile92Met)
|
rs1555282772
|
|
|
NM_000321.3(RB1):c.2770A>C (p.Asn924His)
|
|
|
|
NM_000321.3(RB1):c.2772C>A (p.Asn924Lys)
|
rs1949528716
|
|
|
NM_000321.3(RB1):c.2774A>C (p.Lys925Thr)
|
rs750946437
|
|
|
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly)
|
rs1593549718
|
|
|
NM_000321.3(RB1):c.2779G>A (p.Glu927Lys)
|
rs1949528826
|
|
|
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln)
|
rs1949528826
|
|
|
NM_000321.3(RB1):c.2781G>T (p.Glu927Asp)
|
|
|
|
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
|
|
|
|
NM_000321.3(RB1):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_000321.3(RB1):c.293T>C (p.Leu98Pro)
|
rs2138083652
|
|
|
NM_000321.3(RB1):c.297G>C (p.Trp99Cys)
|
|
|
|
NM_000321.3(RB1):c.299G>C (p.Gly100Ala)
|
rs886050268
|
|
|
NM_000321.3(RB1):c.301A>G (p.Ile101Val)
|
rs1555282783
|
|
|
NM_000321.3(RB1):c.310T>C (p.Phe104Leu)
|
|
|
|
NM_000321.3(RB1):c.317C>A (p.Ala106Glu)
|
|
|
|
NM_000321.3(RB1):c.317C>T (p.Ala106Val)
|
|
|
|
NM_000321.3(RB1):c.31G>A (p.Ala11Thr)
|
|
|
|
NM_000321.3(RB1):c.31G>T (p.Ala11Ser)
|
rs587778852
|
|
|
NM_000321.3(RB1):c.323T>C (p.Val108Ala)
|
rs376408183
|
|
|
NM_000321.3(RB1):c.328C>G (p.Leu110Val)
|
|
|
|
NM_000321.3(RB1):c.32C>G (p.Ala11Gly)
|
rs899323337
|
|
|
NM_000321.3(RB1):c.32C>T (p.Ala11Val)
|
|
|
|
NM_000321.3(RB1):c.331G>A (p.Asp111Asn)
|
rs1952456285
|
|
|
NM_000321.3(RB1):c.334G>A (p.Glu112Lys)
|
rs1199831823
|
|
|
NM_000321.3(RB1):c.337A>C (p.Met113Leu)
|
rs1593434246
|
|
|
NM_000321.3(RB1):c.339G>A (p.Met113Ile)
|
rs1593434250
|
|
|
NM_000321.3(RB1):c.343T>C (p.Phe115Leu)
|
rs1555282792
|
|
|
NM_000321.3(RB1):c.347C>T (p.Thr116Ile)
|
|
|
|
NM_000321.3(RB1):c.349T>C (p.Phe117Leu)
|
|
|
|
NM_000321.3(RB1):c.34A>G (p.Thr12Ala)
|
rs1566174063
|
|
|
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)
|
|
|
|
NM_000321.3(RB1):c.34_39dup (p.Ala13_Ala14insThrAla)
|
|
|
|
NM_000321.3(RB1):c.34_42del (p.9TAA[1])
|
rs759465865
|
|
|
NM_000321.3(RB1):c.352A>G (p.Thr118Ala)
|
|
|
|
NM_000321.3(RB1):c.357G>T (p.Glu119Asp)
|
rs1593434283
|
|
|
NM_000321.3(RB1):c.368A>G (p.Asn123Ser)
|
rs2138084066
|
|
|
NM_000321.3(RB1):c.371T>C (p.Ile124Thr)
|
|
|
|
NM_000321.3(RB1):c.372A>G (p.Ile124Met)
|
rs1593434342
|
|
|
NM_000321.3(RB1):c.379A>G (p.Ser127Gly)
|
rs775559506
|
|
|
NM_000321.3(RB1):c.380+4A>C
|
|
|
|
NM_000321.3(RB1):c.380+5A>T
|
rs2138084167
|
|
|
NM_000321.3(RB1):c.380+6G>A
|
|
|
|
NM_000321.3(RB1):c.381T>C (p.Ser127=)
|
rs780321508
|
|
|
NM_000321.3(RB1):c.382G>C (p.Val128Leu)
|
rs1952480074
|
|
|
NM_000321.3(RB1):c.382G>T (p.Val128Phe)
|
|
|
|
NM_000321.3(RB1):c.383T>C (p.Val128Ala)
|
rs1566186839
|
|
|
NM_000321.3(RB1):c.385C>T (p.His129Tyr)
|
rs1952480132
|
|
|
NM_000321.3(RB1):c.387T>G (p.His129Gln)
|
rs1593435676
|
|
|
NM_000321.3(RB1):c.389A>C (p.Lys130Thr)
|
rs1593435682
|
|
|
NM_000321.3(RB1):c.38C>T (p.Ala13Val)
|
|
|
|
NM_000321.3(RB1):c.392T>C (p.Phe131Ser)
|
rs1593435687
|
|
|
NM_000321.3(RB1):c.393C>A (p.Phe131Leu)
|
rs749495284
|
|
|
NM_000321.3(RB1):c.394T>C (p.Phe132Leu)
|
|
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
|
NM_000321.3(RB1):c.397A>T (p.Asn133Tyr)
|
rs3092900
|
|
|
NM_000321.3(RB1):c.399C>G (p.Asn133Lys)
|
rs765277265
|
|
|
NM_000321.3(RB1):c.419C>A (p.Thr140Asn)
|
rs2138087361
|
|
|
NM_000321.3(RB1):c.422G>A (p.Ser141Asn)
|
rs2138087383
|
|
|
NM_000321.3(RB1):c.428A>C (p.Lys143Thr)
|
rs1952480749
|
|
|
NM_000321.3(RB1):c.431T>C (p.Val144Ala)
|
rs2138087434
|
|
|
NM_000321.3(RB1):c.433G>T (p.Asp145Tyr)
|
|
|
|
NM_000321.3(RB1):c.436A>C (p.Asn146His)
|
rs1266294051
|
|
|
NM_000321.3(RB1):c.440C>T (p.Ala147Val)
|
|
|
|
NM_000321.3(RB1):c.442A>G (p.Met148Val)
|
|
|
|
NM_000321.3(RB1):c.443T>A (p.Met148Lys)
|
|
|
|
NM_000321.3(RB1):c.444G>A (p.Met148Ile)
|
|
|
|
NM_000321.3(RB1):c.449G>C (p.Arg150Thr)
|
|
|
|
NM_000321.3(RB1):c.44C>G (p.Ala15Gly)
|
rs564137727
|
|
|
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
|
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
|
NM_000321.3(RB1):c.458A>G (p.Lys153Arg)
|
|
|
|
NM_000321.3(RB1):c.459G>C (p.Lys153Asn)
|
rs773642334
|
|
|
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)
|
rs1173330253
|
|
|
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup)
|
rs572454921
|
|
|
NM_000321.3(RB1):c.466G>C (p.Asp156His)
|
rs1034616967
|
|
|
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr)
|
rs1034616967
|
|
|
NM_000321.3(RB1):c.469G>A (p.Val157Ile)
|
rs2138087706
|
|
|
NM_000321.3(RB1):c.474G>C (p.Leu158Phe)
|
rs1319691084
|
|
|
NM_000321.3(RB1):c.476T>G (p.Phe159Cys)
|
rs2138087738
|
|
|
NM_000321.3(RB1):c.477T>A (p.Phe159Leu)
|
rs1952481513
|
|
|
NM_000321.3(RB1):c.479C>T (p.Ala160Val)
|
rs1952481610
|
|
|
NM_000321.3(RB1):c.487A>G (p.Ser163Gly)
|
|
|
|
NM_000321.3(RB1):c.48CGC[1] (p.Ala18del)
|
rs1952052800
|
|
|
NM_000321.3(RB1):c.48CGC[4] (p.Ala18_Glu19insAlaAla)
|
|
|
|
NM_000321.3(RB1):c.497A>C (p.Glu166Ala)
|
|
|
|
NM_000321.3(RB1):c.497A>G (p.Glu166Gly)
|
|
|
|
NM_000321.3(RB1):c.49G>A (p.Ala17Thr)
|
rs1566174092
|
|
|
NM_000321.3(RB1):c.4C>A (p.Pro2Thr)
|
rs1328198608
|
|
|
NM_000321.3(RB1):c.500+6_500+10del
|
rs1328603105
|
|
|
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
|
|
|
|
NM_000321.3(RB1):c.501-2A>G
|
|
|
|
NM_000321.3(RB1):c.501-5T>C
|
|
|
|
NM_000321.3(RB1):c.501G>T (p.Arg167Ser)
|
|
|
|
NM_000321.3(RB1):c.505T>C (p.Cys169Arg)
|
|
|
|
NM_000321.3(RB1):c.506G>C (p.Cys169Ser)
|
rs1251503080
|
|
|
NM_000321.3(RB1):c.508G>A (p.Glu170Lys)
|
|
|
|
NM_000321.3(RB1):c.509A>G (p.Glu170Gly)
|
|
|
|
NM_000321.3(RB1):c.50C>T (p.Ala17Val)
|
rs1593412070
|
|
|
NM_000321.3(RB1):c.512T>C (p.Leu171Pro)
|
|
|
|
NM_000321.3(RB1):c.513_515dup (p.Ile172dup)
|
rs2138091572
|
|
|
NM_000321.3(RB1):c.514A>G (p.Ile172Val)
|
rs2138091600
|
|
|
NM_000321.3(RB1):c.514A>T (p.Ile172Leu)
|
|
|
|
NM_000321.3(RB1):c.515T>C (p.Ile172Thr)
|
rs1952511717
|
|
|
NM_000321.3(RB1):c.516A>G (p.Ile172Met)
|
|
|
|
NM_000321.3(RB1):c.520T>G (p.Leu174Val)
|
rs1426744051
|
|
|
NM_000321.3(RB1):c.523A>G (p.Thr175Ala)
|
|
|
|
NM_000321.3(RB1):c.529C>T (p.Pro177Ser)
|
rs1357310270
|
|
|
NM_000321.3(RB1):c.52G>A (p.Ala18Thr)
|
rs528218090
|
|
|
NM_000321.3(RB1):c.530C>A (p.Pro177His)
|
rs1952511945
|
|
|
NM_000321.3(RB1):c.530C>G (p.Pro177Arg)
|
rs1952511945
|
|
|
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)
|
|
|
|
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
|
|
|
|
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
|
|
|
|
NM_000321.3(RB1):c.534C>G (p.Ser178Arg)
|
|
|
|
NM_000321.3(RB1):c.535A>G (p.Ser179Gly)
|
rs970490020
|
|
|
NM_000321.3(RB1):c.539+1G>T
|
|
|
|
NM_000321.3(RB1):c.539+3A>G
|
|
|
|
NM_000321.3(RB1):c.539+4A>G
|
|
|
|
NM_000321.3(RB1):c.540-4A>G
|
rs2138093406
|
|
|
NM_000321.3(RB1):c.541A>G (p.Ile181Val)
|
rs781708508
|
|
|
NM_000321.3(RB1):c.544T>G (p.Ser182Ala)
|
|
|
|
NM_000321.3(RB1):c.545C>A (p.Ser182Tyr)
|
|
|
|
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
|
|
|
|
NM_000321.3(RB1):c.548C>T (p.Thr183Ile)
|
rs1952522583
|
|
|
NM_000321.3(RB1):c.552A>C (p.Glu184Asp)
|
rs1220347917
|
|
|
NM_000321.3(RB1):c.553A>G (p.Ile185Val)
|
|
|
|
NM_000321.3(RB1):c.554T>C (p.Ile185Thr)
|
|
|
|
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)
|
|
|
|
NM_000321.3(RB1):c.560C>G (p.Ser187Cys)
|
rs770277291
|
|
|
NM_000321.3(RB1):c.562G>A (p.Ala188Thr)
|
rs1189153218
|
|
|
NM_000321.3(RB1):c.567G>T (p.Leu189Phe)
|
|
|
|
NM_000321.3(RB1):c.56A>T (p.Glu19Val)
|
|
|
|
NM_000321.3(RB1):c.571C>A (p.Leu191Ile)
|
|
|
|
NM_000321.3(RB1):c.577G>C (p.Val193Leu)
|
rs1952523027
|
|
|
NM_000321.3(RB1):c.578T>C (p.Val193Ala)
|
rs1060503093
|
|
|
NM_000321.3(RB1):c.586A>G (p.Ile196Val)
|
rs1952523113
|
|
|
NM_000321.3(RB1):c.589A>G (p.Thr197Ala)
|
rs1421476380
|
|
|
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
|
|
|
|
NM_000321.3(RB1):c.590C>T (p.Thr197Ile)
|
|
|
|
NM_000321.3(RB1):c.600A>C (p.Leu200Phe)
|
|
|
|
NM_000321.3(RB1):c.607+4A>G
|
|
|
|
NM_000321.3(RB1):c.607G>A (p.Gly203Arg)
|
rs1012377281
|
|
|
NM_000321.3(RB1):c.607G>C (p.Gly203Arg)
|
rs1012377281
|
|
|
NM_000321.3(RB1):c.607G>T (p.Gly203Trp)
|
rs1012377281
|
|
|
NM_000321.3(RB1):c.608-2del
|
rs1952624973
|
|
|
NM_000321.3(RB1):c.608-3C>G
|
rs1952624919
|
|
|
NM_000321.3(RB1):c.608G>A (p.Gly203Glu)
|
rs2138107541
|
|
|
NM_000321.3(RB1):c.610G>A (p.Glu204Lys)
|
rs1340261233
|
|
|
NM_000321.3(RB1):c.611A>T (p.Glu204Val)
|
|
|
|
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu)
|
rs1593443469
|
|
|
NM_000321.3(RB1):c.616T>A (p.Leu206Ile)
|
|
|
|
NM_000321.3(RB1):c.616T>C (p.Leu206=)
|
rs886050270
|
|
|
NM_000321.3(RB1):c.619C>A (p.Gln207Lys)
|
rs2138107604
|
|
|
NM_000321.3(RB1):c.621A>C (p.Gln207His)
|
rs1952625195
|
|
|
NM_000321.3(RB1):c.62C>G (p.Pro21Arg)
|
rs1444353743
|
|
|
NM_000321.3(RB1):c.62C>T (p.Pro21Leu)
|
rs1444353743
|
|
|
NM_000321.3(RB1):c.637G>T (p.Val213Leu)
|
|
|
|
NM_000321.3(RB1):c.640A>G (p.Ile214Val)
|
rs1952625382
|
|
|
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)
|
rs768305224
|
|
|
NM_000321.3(RB1):c.656T>A (p.Met219Lys)
|
rs1952625561
|
|
|
NM_000321.3(RB1):c.656T>C (p.Met219Thr)
|
rs1952625561
|
|
|
NM_000321.3(RB1):c.658C>A (p.Leu220Ile)
|
|
|
|
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys)
|
rs771567627
|
|
|
NM_000321.3(RB1):c.679A>G (p.Ile227Val)
|
|
|
|
NM_000321.3(RB1):c.67C>A (p.Pro23Thr)
|
rs1349657979
|
|
|
NM_000321.3(RB1):c.67C>T (p.Pro23Ser)
|
rs1349657979
|
|
|
NM_000321.3(RB1):c.688T>G (p.Ser230Ala)
|
rs1952625902
|
|
|
NM_000321.3(RB1):c.689C>T (p.Ser230Leu)
|
rs1459523811
|
|
|
NM_000321.3(RB1):c.68C>A (p.Pro23Gln)
|
rs1952053594
|
|
|
NM_000321.3(RB1):c.68C>T (p.Pro23Leu)
|
rs1952053594
|
|
|
NM_000321.3(RB1):c.691C>T (p.Pro231Ser)
|
rs1952625956
|
|
|
NM_000321.3(RB1):c.692C>T (p.Pro231Leu)
|
rs2138107936
|
|
|
NM_000321.3(RB1):c.699G>A (p.Met233Ile)
|
rs1952626050
|
|
|
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)
|
rs587778823
|
|
|
NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)
|
rs587778823
|
|
|
NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup)
|
rs587778823
|
|
|
NM_000321.3(RB1):c.700T>G (p.Leu234Val)
|
rs1362138725
|
|
|
NM_000321.3(RB1):c.703C>G (p.Leu235Val)
|
|
|
|
NM_000321.3(RB1):c.703C>T (p.Leu235Phe)
|
|
|
|
NM_000321.3(RB1):c.707A>G (p.Lys236Arg)
|
rs1952626193
|
|
|
NM_000321.3(RB1):c.708A>C (p.Lys236Asn)
|
rs1173696113
|
|
|
NM_000321.3(RB1):c.708A>T (p.Lys236Asn)
|
|
|
|
NM_000321.3(RB1):c.712C>T (p.Pro238Ser)
|
|
|
|
NM_000321.3(RB1):c.718+3A>G
|
|
|
|
NM_000321.3(RB1):c.718A>G (p.Lys240Glu)
|
rs2138108056
|
|
|
NM_000321.3(RB1):c.719-17A>G
|
|
|
|
NM_000321.3(RB1):c.719-2A>C
|
rs1952654925
|
|
|
NM_000321.3(RB1):c.719-3C>T
|
rs2138112047
|
|
|
NM_000321.3(RB1):c.722C>T (p.Thr241Ile)
|
rs1593445085
|
|
|
NM_000321.3(RB1):c.722del (p.Thr241fs)
|
|
|
|
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
|
|
|
|
NM_000321.3(RB1):c.725C>G (p.Ala242Gly)
|
|
|
|
NM_000321.3(RB1):c.727G>C (p.Val243Leu)
|
rs1952655034
|
|
|
NM_000321.3(RB1):c.730A>T (p.Ile244Leu)
|
rs778605591
|
|
|
NM_000321.3(RB1):c.733C>T (p.Pro245Ser)
|
rs1952655166
|
|
|
NM_000321.3(RB1):c.734C>T (p.Pro245Leu)
|
rs2138112166
|
|
|
NM_000321.3(RB1):c.737T>G (p.Ile246Ser)
|
|
|
|
NM_000321.3(RB1):c.739A>G (p.Asn247Asp)
|
rs1429451823
|
|
|
NM_000321.3(RB1):c.73C>A (p.Pro25Thr)
|
|
|
|
NM_000321.3(RB1):c.740A>G (p.Asn247Ser)
|
|
|
|
NM_000321.3(RB1):c.745T>A (p.Ser249Thr)
|
rs2138112221
|
|
|
NM_000321.3(RB1):c.748C>T (p.Pro250Ser)
|
rs1566192505
|
|
|
NM_000321.3(RB1):c.749C>G (p.Pro250Arg)
|
rs1952655335
|
|
|
NM_000321.3(RB1):c.74C>T (p.Pro25Leu)
|
rs1593412158
|
|
|
NM_000321.3(RB1):c.751C>G (p.Arg251Gly)
|
|
|
|
NM_000321.3(RB1):c.754A>T (p.Thr252Ser)
|
rs1952655426
|
|
|
NM_000321.3(RB1):c.757C>A (p.Pro253Thr)
|
rs1952655473
|
|
|
NM_000321.3(RB1):c.757C>G (p.Pro253Ala)
|
|
|
|
NM_000321.3(RB1):c.760A>G (p.Arg254Gly)
|
rs2138112300
|
|
|
NM_000321.3(RB1):c.762G>T (p.Arg254Ser)
|
|
|
|
NM_000321.3(RB1):c.764G>A (p.Arg255Gln)
|
rs746954896
|
|
|
NM_000321.3(RB1):c.766G>A (p.Gly256Ser)
|
|
|
|
NM_000321.3(RB1):c.766G>C (p.Gly256Arg)
|
|
|
|
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
|
|
|
|
NM_000321.3(RB1):c.770A>G (p.Gln257Arg)
|
rs1232080974
|
|
|
NM_000321.3(RB1):c.772A>G (p.Asn258Asp)
|
|
|
|
NM_000321.3(RB1):c.773A>G (p.Asn258Ser)
|
|
|
|
NM_000321.3(RB1):c.775A>T (p.Arg259Trp)
|
rs1299654789
|
|
|
NM_000321.3(RB1):c.776G>C (p.Arg259Thr)
|
|
|
|
NM_000321.3(RB1):c.779G>A (p.Ser260Asn)
|
|
|
|
NM_000321.3(RB1):c.779G>C (p.Ser260Thr)
|
rs1342634687
|
|
|
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)
|
rs1555279223
|
|
|
NM_000321.3(RB1):c.791C>G (p.Ala264Gly)
|
|
|
|
NM_000321.3(RB1):c.794AAC[3] (p.Gln266dup)
|
rs2138112498
|
|
|
NM_000321.3(RB1):c.797A>G (p.Gln266Arg)
|
|
|
|
NM_000321.3(RB1):c.799C>G (p.Leu267Val)
|
rs1593445172
|
|
|
NM_000321.3(RB1):c.79C>T (p.Pro27Ser)
|
rs1309325353
|
|
|
NM_000321.3(RB1):c.800T>C (p.Leu267Pro)
|
|
|
|
NM_000321.3(RB1):c.806A>G (p.Asn269Ser)
|
rs1952656398
|
|
|
NM_000321.3(RB1):c.807T>G (p.Asn269Lys)
|
rs922948338
|
|
|
NM_000321.3(RB1):c.808G>T (p.Asp270Tyr)
|
|
|
|
NM_000321.3(RB1):c.809A>T (p.Asp270Val)
|
|
|
|
NM_000321.3(RB1):c.80C>T (p.Pro27Leu)
|
|
|
|
NM_000321.3(RB1):c.811A>G (p.Thr271Ala)
|
rs1461707277
|
|
|
NM_000321.3(RB1):c.812C>T (p.Thr271Ile)
|
rs1191072088
|
|
|
NM_000321.3(RB1):c.815G>A (p.Arg272Lys)
|
rs2138112612
|
|
|
NM_000321.3(RB1):c.826G>T (p.Val276Phe)
|
rs2138112665
|
|
|
NM_000321.3(RB1):c.82C>T (p.Pro28Ser)
|
|
|
|
NM_000321.3(RB1):c.838G>A (p.Glu280Lys)
|
rs2138112743
|
|
|
NM_000321.3(RB1):c.83C>T (p.Pro28Leu)
|
rs776175164
|
|
|
NM_000321.3(RB1):c.840A>T (p.Glu280Asp)
|
|
|
|
NM_000321.3(RB1):c.841C>T (p.His281Tyr)
|
rs933023013
|
|
|
NM_000321.3(RB1):c.842A>G (p.His281Arg)
|
|
|
|
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
|
|
|
|
NM_000321.3(RB1):c.848G>A (p.Cys283Tyr)
|
rs1273219762
|
|
|
NM_000321.3(RB1):c.853A>G (p.Ile285Val)
|
rs1593445228
|
|
|
NM_000321.3(RB1):c.854T>C (p.Ile285Thr)
|
|
|
|
NM_000321.3(RB1):c.855A>G (p.Ile285Met)
|
rs1566192594
|
|
|
NM_000321.3(RB1):c.860A>G (p.Glu287Gly)
|
rs1952657220
|
|
|
NM_000321.3(RB1):c.862G>A (p.Val288Met)
|
rs1555285117
|
|
|
NM_000321.3(RB1):c.867A>C (p.Lys289Asn)
|
rs1555285126
|
|
|
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
|
|
|
|
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
|
|
|
|
NM_000321.3(RB1):c.879C>A (p.Phe293Leu)
|
rs775381228
|
|
|
NM_000321.3(RB1):c.881A>C (p.Lys294Thr)
|
rs1453047397
|
|
|
NM_000321.3(RB1):c.889A>C (p.Ile297Leu)
|
|
|
|
NM_000321.3(RB1):c.889A>T (p.Ile297Leu)
|
rs1286975378
|
|
|
NM_000321.3(RB1):c.88G>C (p.Glu30Gln)
|
rs1555279228
|
|
|
NM_000321.3(RB1):c.890T>C (p.Ile297Thr)
|
rs1593446608
|
|
|
NM_000321.3(RB1):c.892C>A (p.Pro298Thr)
|
rs2138116427
|
|
|
NM_000321.3(RB1):c.892C>T (p.Pro298Ser)
|
rs2138116427
|
|
|
NM_000321.3(RB1):c.893C>A (p.Pro298His)
|
|
|
|
NM_000321.3(RB1):c.898A>G (p.Met300Val)
|
rs1060503086
|
|
|
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
|
|
|
|
NM_000321.3(RB1):c.899T>G (p.Met300Arg)
|
|
|
|
NM_000321.3(RB1):c.8C>T (p.Pro3Leu)
|
|
|
|
NM_000321.3(RB1):c.901A>G (p.Asn301Asp)
|
|
|
|
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)
|
rs1208736713
|
|
|
NM_000321.3(RB1):c.905C>G (p.Ser302Cys)
|
|
|
|
NM_000321.3(RB1):c.908T>C (p.Leu303Pro)
|
rs900955797
|
|
|
NM_000321.3(RB1):c.908T>G (p.Leu303Arg)
|
rs900955797
|
|
|
NM_000321.3(RB1):c.913C>G (p.Leu305Val)
|
|
|
|
NM_000321.3(RB1):c.913C>T (p.Leu305Phe)
|
rs1292944238
|
|
|
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
|
|
|
|
NM_000321.3(RB1):c.922T>C (p.Ser308Pro)
|
|
|
|
NM_000321.3(RB1):c.926A>G (p.Asn309Ser)
|
rs1952680701
|
|
|
NM_000321.3(RB1):c.931C>T (p.Leu311Phe)
|
|
|
|
NM_000321.3(RB1):c.938A>G (p.Glu313Gly)
|
|
|
|
NM_000321.3(RB1):c.939+3A>T
|
rs1555285148
|
|
|
NM_000321.3(RB1):c.939+5T>G
|
rs1952680873
|
|
|
NM_000321.3(RB1):c.940-10_940-9del
|
rs774207778
|
|
|
NM_000321.3(RB1):c.940-5T>C
|
rs1289148853
|
|
|
NM_000321.3(RB1):c.940G>A (p.Val314Ile)
|
|
|
|
NM_000321.3(RB1):c.940G>T (p.Val314Phe)
|
rs1566194312
|
|
|
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
|
|
|
|
NM_000321.3(RB1):c.947A>G (p.Asn316Ser)
|
rs2138120959
|
|
|
NM_000321.3(RB1):c.949C>T (p.Leu317Phe)
|
|
|
|
NM_000321.3(RB1):c.94G>A (p.Asp32Asn)
|
rs1593412219
|
|
|
NM_000321.3(RB1):c.94G>C (p.Asp32His)
|
rs1593412219
|
|
|
NM_000321.3(RB1):c.952T>C (p.Ser318Pro)
|
|
|
|
NM_000321.3(RB1):c.953C>G (p.Ser318Cys)
|
rs886050271
|
|
|
NM_000321.3(RB1):c.959G>T (p.Arg320Leu)
|
rs760787104
|
|
|
NM_000321.3(RB1):c.961T>C (p.Tyr321His)
|
rs2138121056
|
|
|
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)
|
rs1566194338
|
|
|
NM_000321.3(RB1):c.964G>A (p.Glu322Lys)
|
rs776534331
|
|
|
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
|
|
|
|
NM_000321.3(RB1):c.96C>A (p.Asp32Glu)
|
|
|
|
NM_000321.3(RB1):c.970A>G (p.Ile324Val)
|
|
|
|
NM_000321.3(RB1):c.971T>C (p.Ile324Thr)
|
|
|
|
NM_000321.3(RB1):c.976C>T (p.Leu326Phe)
|
rs1566194351
|
|
|
NM_000321.3(RB1):c.977T>C (p.Leu326Pro)
|
|
|
|
NM_000321.3(RB1):c.979A>G (p.Lys327Glu)
|
|
|
|
NM_000321.3(RB1):c.97C>T (p.Pro33Ser)
|
|
|
|
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)
|
rs878853952
|
|
|
NM_000321.3(RB1):c.984T>A (p.Asn328Lys)
|
rs1952716275
|
|
|
NM_000321.3(RB1):c.985A>C (p.Lys329Gln)
|
rs2138121199
|
|
|
NM_000321.3(RB1):c.988G>C (p.Asp330His)
|
|
|
|
NM_000321.3(RB1):c.98C>T (p.Pro33Leu)
|
rs1201977804
|
|
|
NM_000321.3(RB1):c.990T>A (p.Asp330Glu)
|
rs2138121244
|
|
|
NM_000321.3(RB1):c.991C>G (p.Leu331Val)
|
|
|
|
NM_000321.3(RB1):c.994G>A (p.Asp332Asn)
|
|
|
|
NM_000321.3(RB1):c.998C>A (p.Ala333Glu)
|
|
|
|
NM_000321.3(RB1):c.9_10delinsGG (p.Lys4Glu)
|
|
|
|
NM_000322.5(PRPH2):c.997G>A (p.Glu333Lys)
|
rs193921105
|
|
|
NM_000325.6(PITX2):c.412-283C>A
|
|
|
|
NM_000325.6(PITX2):c.580G>A (p.Ala194Thr)
|
rs193920830
|
|
|
NM_000346.4(SOX9):c.61G>A (p.Ala21Thr)
|
rs193920972
|
|
|
NM_000368.5(TSC1):c.556del (p.Ala186fs)
|
|
|
|
NM_000368.5(TSC1):c.589del (p.Cys197fs)
|
|
|
|
NM_000389.5(CDKN1A):c.195_196delinsAA (p.Trp65_Glu66delinsTer)
|
|
|
|
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)
|
rs193921045
|
|
|
NM_000435.3(NOTCH3):c.5161T>A (p.Trp1721Arg)
|
rs869025230
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)
|
rs864622448
|
|
|
NM_000455.5(STK11):c.25C>G (p.Leu9Val)
|
rs876661079
|
|
|
NM_000455.5(STK11):c.31A>T (p.Met11Leu)
|
rs753834428
|
|
|
NM_000455.5(STK11):c.375-19del
|
rs2080764943
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
|
NM_000455.5(STK11):c.464+140dup
|
|
|
|
NM_000455.5(STK11):c.464+322C>T
|
|
|
|
NM_000455.5(STK11):c.464+44dup
|
rs544282452
|
|
|
NM_000455.5(STK11):c.464+95T>C
|
rs2080767432
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.598-32C>T
|
rs2080775539
|
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
|
NM_000465.3(BARD1):c.1315-?_*(1_?)dup
|
|
|
|
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
|
|
|
|
NM_000465.3(BARD1):c.1903+5_1903+6ins27
|
|
|
|
NM_000465.4(BARD1):c.-1_1insTCCCG (p.Met1fs)
|
rs1696478939
|
|
|
NM_000465.4(BARD1):c.1000A>G (p.Lys334Glu)
|
rs1694972991
|
|
|
NM_000465.4(BARD1):c.1002G>T (p.Lys334Asn)
|
rs1574818027
|
|
|
NM_000465.4(BARD1):c.1004G>T (p.Arg335Ile)
|
|
|
|
NM_000465.4(BARD1):c.1005A>C (p.Arg335Ser)
|
rs1574818013
|
|
|
NM_000465.4(BARD1):c.1005A>G (p.Arg335=)
|
rs1574818013
|
|
|
NM_000465.4(BARD1):c.1006T>A (p.Cys336Ser)
|
|
|
|
NM_000465.4(BARD1):c.1006T>C (p.Cys336Arg)
|
rs752869298
|
|
|
NM_000465.4(BARD1):c.1006T>G (p.Cys336Gly)
|
rs752869298
|
|
|
NM_000465.4(BARD1):c.100T>A (p.Trp34Arg)
|
rs955904953
|
|
|
NM_000465.4(BARD1):c.100T>C (p.Trp34Arg)
|
rs955904953
|
|
|
NM_000465.4(BARD1):c.1010_1011delinsAT (p.Arg337Asn)
|
rs1559424267
|
|
|
NM_000465.4(BARD1):c.1012A>G (p.Thr338Ala)
|
rs2106109251
|
|
|
NM_000465.4(BARD1):c.1013C>G (p.Thr338Ser)
|
rs587781313
|
|
|
NM_000465.4(BARD1):c.1013C>T (p.Thr338Ile)
|
|
|
|
NM_000465.4(BARD1):c.1015A>T (p.Ser339Cys)
|
rs1694970561
|
|
|
NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1016G>T (p.Ser339Ile)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1018A>G (p.Ile340Val)
|
|
|
|
NM_000465.4(BARD1):c.1018A>T (p.Ile340Phe)
|
rs878853994
|
|
|
NM_000465.4(BARD1):c.101G>C (p.Trp34Ser)
|
rs876659387
|
|
|
NM_000465.4(BARD1):c.101G>T (p.Trp34Leu)
|
|
|
|
NM_000465.4(BARD1):c.1024A>C (p.Ser342Arg)
|
rs1574817878
|
|
|
NM_000465.4(BARD1):c.1024A>G (p.Ser342Gly)
|
rs1574817878
|
|
|
NM_000465.4(BARD1):c.1026C>G (p.Ser342Arg)
|
|
|
|
NM_000465.4(BARD1):c.1027A>C (p.Thr343Pro)
|
rs2106109159
|
|
|
NM_000465.4(BARD1):c.1027A>G (p.Thr343Ala)
|
rs2106109159
|
|
|
NM_000465.4(BARD1):c.1028C>G (p.Thr343Ser)
|
rs201032007
|
|
|
NM_000465.4(BARD1):c.1031G>A (p.Ser344Asn)
|
rs1559424187
|
|
|
NM_000465.4(BARD1):c.1031G>C (p.Ser344Thr)
|
rs1559424187
|
|
|
NM_000465.4(BARD1):c.1036G>A (p.Asp346Asn)
|
|
|
|
NM_000465.4(BARD1):c.1036G>T (p.Asp346Tyr)
|
rs1694968440
|
|
|
NM_000465.4(BARD1):c.1037A>G (p.Asp346Gly)
|
|
|
|
NM_000465.4(BARD1):c.1037A>T (p.Asp346Val)
|
rs1694968313
|
|
|
NM_000465.4(BARD1):c.103G>A (p.Ala35Thr)
|
rs587782865
|
|
|
NM_000465.4(BARD1):c.103G>T (p.Ala35Ser)
|
|
|
|
NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1040T>G (p.Phe347Cys)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln)
|
rs1401955290
|
|
|
NM_000465.4(BARD1):c.104C>A (p.Ala35Asp)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.104C>G (p.Ala35Gly)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.104C>T (p.Ala35Val)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.1050A>T (p.Gln350His)
|
rs1060501277
|
|
|
NM_000465.4(BARD1):c.1051A>G (p.Thr351Ala)
|
|
|
|
NM_000465.4(BARD1):c.1053_1054delinsCA (p.Val352Met)
|
rs1553622282
|
|
|
NM_000465.4(BARD1):c.1053_1054inv (p.Val352Leu)
|
|
|
|
NM_000465.4(BARD1):c.1054G>T (p.Val352Leu)
|
rs587782475
|
|
|
NM_000465.4(BARD1):c.1057C>T (p.Pro353Ser)
|
rs1553622277
|
|
|
NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr)
|
rs863224670
|
|
|
NM_000465.4(BARD1):c.1066A>T (p.Asn356Tyr)
|
rs1574817638
|
|
|
NM_000465.4(BARD1):c.1068T>A (p.Asn356Lys)
|
rs1423687196
|
|
|
NM_000465.4(BARD1):c.106C>G (p.His36Asp)
|
rs2106171164
|
|
|
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1070T>G (p.Ile357Arg)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1073C>T (p.Pro358Leu)
|
rs1553622261
|
|
|
NM_000465.4(BARD1):c.1077G>T (p.Leu359Phe)
|
rs864622283
|
|
|
NM_000465.4(BARD1):c.1078C>G (p.Pro360Ala)
|
rs1210369014
|
|
|
NM_000465.4(BARD1):c.1078C>T (p.Pro360Ser)
|
rs1210369014
|
|
|
NM_000465.4(BARD1):c.1079C>G (p.Pro360Arg)
|
|
|
|
NM_000465.4(BARD1):c.107A>C (p.His36Pro)
|
rs864622635
|
|
|
NM_000465.4(BARD1):c.107A>G (p.His36Arg)
|
rs864622635
|
|
|
NM_000465.4(BARD1):c.1084T>A (p.Cys362Ser)
|
rs141351035
|
|
|
NM_000465.4(BARD1):c.1087T>A (p.Ser363Thr)
|
rs1064794985
|
|
|
NM_000465.4(BARD1):c.1088C>G (p.Ser363Cys)
|
|
|
|
NM_000465.4(BARD1):c.1088C>T (p.Ser363Phe)
|
rs1694962993
|
|
|
NM_000465.4(BARD1):c.1091C>T (p.Ser364Leu)
|
rs200168806
|
|
|
NM_000465.4(BARD1):c.1098_1099delinsAC (p.Ser367Pro)
|
rs1064794052
|
|
|
NM_000465.4(BARD1):c.1099T>A (p.Ser367Thr)
|
rs1694961543
|
|
|
NM_000465.4(BARD1):c.109A>G (p.Ser37Gly)
|
rs1064793565
|
|
|
NM_000465.4(BARD1):c.1105A>G (p.Lys369Glu)
|
rs2106108670
|
|
|
NM_000465.4(BARD1):c.1106A>G (p.Lys369Arg)
|
rs2106108664
|
|
|
NM_000465.4(BARD1):c.1107A>T (p.Lys369Asn)
|
rs876660211
|
|
|
NM_000465.4(BARD1):c.1108C>A (p.Arg370Ser)
|
rs587781596
|
|
|
NM_000465.4(BARD1):c.1109G>C (p.Arg370Pro)
|
rs730881416
|
|
|
NM_000465.4(BARD1):c.1109G>T (p.Arg370Leu)
|
rs730881416
|
|
|
NM_000465.4(BARD1):c.1113A>T (p.Lys371Asn)
|
rs2106108630
|
|
|
NM_000465.4(BARD1):c.1114G>C (p.Val372Leu)
|
rs1574817297
|
|
|
NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp)
|
rs568305044
|
|
|
NM_000465.4(BARD1):c.1118G>C (p.Gly373Ala)
|
|
|
|
NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)
|
rs2106171106
|
|
|
NM_000465.4(BARD1):c.1120G>C (p.Gly374Arg)
|
|
|
|
NM_000465.4(BARD1):c.1121G>A (p.Gly374Asp)
|
|
|
|
NM_000465.4(BARD1):c.1123A>G (p.Thr375Ala)
|
rs1694959699
|
|
|
NM_000465.4(BARD1):c.1124C>T (p.Thr375Ile)
|
rs1559423874
|
|
|
NM_000465.4(BARD1):c.1126T>A (p.Ser376Thr)
|
rs1060501279
|
|
|
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)
|
rs1060501279
|
|
|
NM_000465.4(BARD1):c.1129G>C (p.Gly377Arg)
|
rs1694958957
|
|
|
NM_000465.4(BARD1):c.112C>A (p.Arg38Ser)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.112C>G (p.Arg38Gly)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.112C>T (p.Arg38Cys)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.1134_1135delinsCG (p.Arg378_Lys379delinsSerGlu)
|
|
|
|
NM_000465.4(BARD1):c.1135A>G (p.Lys379Glu)
|
rs1060501280
|
|
|
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
|
NM_000465.4(BARD1):c.1137A>T (p.Lys379Asn)
|
|
|
|
NM_000465.4(BARD1):c.113G>A (p.Arg38His)
|
rs2106171086
|
|
|
NM_000465.4(BARD1):c.113G>C (p.Arg38Pro)
|
|
|
|
NM_000465.4(BARD1):c.1140C>G (p.Asn380Lys)
|
|
|
|
NM_000465.4(BARD1):c.1141A>G (p.Ser381Gly)
|
|
|
|
NM_000465.4(BARD1):c.1142_1162del (p.Ser381_Phe387del)
|
rs1694955246
|
|
|
NM_000465.4(BARD1):c.1144A>G (p.Asn382Asp)
|
rs1463551188
|
|
|
NM_000465.4(BARD1):c.1145A>G (p.Asn382Ser)
|
|
|
|
NM_000465.4(BARD1):c.1147A>G (p.Met383Val)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1148T>C (p.Met383Thr)
|
rs763596413
|
|
|
NM_000465.4(BARD1):c.1148T>G (p.Met383Arg)
|
rs763596413
|
|
|
NM_000465.4(BARD1):c.1149G>A (p.Met383Ile)
|
rs1559423780
|
|
|
NM_000465.4(BARD1):c.1149G>C (p.Met383Ile)
|
rs1559423780
|
|
|
NM_000465.4(BARD1):c.1151C>T (p.Ser384Phe)
|
rs1553622221
|
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.1153G>T (p.Asp385Tyr)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.1154A>G (p.Asp385Gly)
|
|
|
|
NM_000465.4(BARD1):c.1156G>A (p.Glu386Lys)
|
rs1553622218
|
|
|
NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu)
|
rs1553622215
|
|
|
NM_000465.4(BARD1):c.1162A>G (p.Ile388Val)
|
rs1553622215
|
|
|
NM_000465.4(BARD1):c.1166G>A (p.Ser389Asn)
|
rs1553622212
|
|
|
NM_000465.4(BARD1):c.1166G>C (p.Ser389Thr)
|
rs1553622212
|
|
|
NM_000465.4(BARD1):c.1168C>A (p.Leu390Ile)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1168C>G (p.Leu390Val)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1168C>T (p.Leu390Phe)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1171_1179del (p.Ser391_Gly393del)
|
rs2106108263
|
|
|
NM_000465.4(BARD1):c.1172C>T (p.Ser391Leu)
|
|
|
|
NM_000465.4(BARD1):c.1174C>A (p.Pro392Thr)
|
rs2106108303
|
|
|
NM_000465.4(BARD1):c.1174C>G (p.Pro392Ala)
|
rs2106108303
|
|
|
NM_000465.4(BARD1):c.1175C>T (p.Pro392Leu)
|
rs1553622210
|
|
|
NM_000465.4(BARD1):c.1177G>A (p.Gly393Ser)
|
rs1553622207
|
|
|
NM_000465.4(BARD1):c.1178G>A (p.Gly393Asp)
|
rs923271294
|
|
|
NM_000465.4(BARD1):c.1178G>C (p.Gly393Ala)
|
rs923271294
|
|
|
NM_000465.4(BARD1):c.1181C>T (p.Thr394Ile)
|
rs749378135
|
|
|
NM_000465.4(BARD1):c.1183C>T (p.Pro395Ser)
|
rs756647439
|
|
|
NM_000465.4(BARD1):c.1186C>G (p.Pro396Ala)
|
rs1426044782
|
|
|
NM_000465.4(BARD1):c.1186C>T (p.Pro396Ser)
|
rs1426044782
|
|
|
NM_000465.4(BARD1):c.1188_1189delinsAC (p.Ser397Pro)
|
rs1694952147
|
|
|
NM_000465.4(BARD1):c.1189T>G (p.Ser397Ala)
|
|
|
|
NM_000465.4(BARD1):c.1190C>G (p.Ser397Cys)
|
rs375078644
|
|
|
NM_000465.4(BARD1):c.1195T>A (p.Leu399Ile)
|
|
|
|
NM_000465.4(BARD1):c.1198A>T (p.Ser400Cys)
|
rs867396444
|
|
|
NM_000465.4(BARD1):c.1198AGT[1] (p.Ser403del)
|
|
|
|
NM_000465.4(BARD1):c.1199G>A (p.Ser400Asn)
|
rs1694948749
|
|
|
NM_000465.4(BARD1):c.11A>C (p.Asn4Thr)
|
|
|
|
NM_000465.4(BARD1):c.1201A>G (p.Ser401Gly)
|
rs1694948504
|
|
|
NM_000465.4(BARD1):c.1202G>A (p.Ser401Asn)
|
|
|
|
NM_000465.4(BARD1):c.1202G>C (p.Ser401Thr)
|
|
|
|
NM_000465.4(BARD1):c.1203T>G (p.Ser401Arg)
|
rs370553043
|
|
|
NM_000465.4(BARD1):c.1204T>A (p.Ser402Thr)
|
rs1375796276
|
|
|
NM_000465.4(BARD1):c.1204T>C (p.Ser402Pro)
|
rs1375796276
|
|
|
NM_000465.4(BARD1):c.1205C>T (p.Ser402Leu)
|
rs796666047
|
|
|
NM_000465.4(BARD1):c.1207A>C (p.Ser403Arg)
|
rs1060501286
|
|
|
NM_000465.4(BARD1):c.1207A>G (p.Ser403Gly)
|
rs1060501286
|
|
|
NM_000465.4(BARD1):c.1208G>A (p.Ser403Asn)
|
rs1553622181
|
|
|
NM_000465.4(BARD1):c.1208G>C (p.Ser403Thr)
|
rs1553622181
|
|
|
NM_000465.4(BARD1):c.1209T>A (p.Ser403Arg)
|
|
|
|
NM_000465.4(BARD1):c.1211A>G (p.Tyr404Cys)
|
rs1559423578
|
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
|
NM_000465.4(BARD1):c.1219G>A (p.Val407Met)
|
rs1553622168
|
|
|
NM_000465.4(BARD1):c.121C>T (p.Leu41Phe)
|
rs751665426
|
|
|
NM_000465.4(BARD1):c.1222A>G (p.Met408Val)
|
rs1694946023
|
|
|
NM_000465.4(BARD1):c.1223T>C (p.Met408Thr)
|
rs1553622167
|
|
|
NM_000465.4(BARD1):c.1224G>A (p.Met408Ile)
|
rs1694945753
|
|
|
NM_000465.4(BARD1):c.1224G>C (p.Met408Ile)
|
|
|
|
NM_000465.4(BARD1):c.1225T>C (p.Ser409Pro)
|
rs2106108006
|
|
|
NM_000465.4(BARD1):c.1229G>T (p.Ser410Ile)
|
rs1694945264
|
|
|
NM_000465.4(BARD1):c.1231C>G (p.Pro411Ala)
|
rs786203825
|
|
|
NM_000465.4(BARD1):c.1231C>T (p.Pro411Ser)
|
rs786203825
|
|
|
NM_000465.4(BARD1):c.1240A>C (p.Met414Leu)
|
rs759601398
|
|
|
NM_000465.4(BARD1):c.1240A>G (p.Met414Val)
|
rs759601398
|
|
|
NM_000465.4(BARD1):c.1242G>A (p.Met414Ile)
|
rs1553622143
|
|
|
NM_000465.4(BARD1):c.1243A>C (p.Lys415Gln)
|
rs1694943608
|
|
|
NM_000465.4(BARD1):c.1243A>G (p.Lys415Glu)
|
rs1694943608
|
|
|
NM_000465.4(BARD1):c.1244A>G (p.Lys415Arg)
|
rs879254118
|
|
|
NM_000465.4(BARD1):c.124G>A (p.Asp42Asn)
|
|
|
|
NM_000465.4(BARD1):c.124G>C (p.Asp42His)
|
rs762894716
|
|
|
NM_000465.4(BARD1):c.124G>T (p.Asp42Tyr)
|
rs762894716
|
|
|
NM_000465.4(BARD1):c.1253C>T (p.Pro418Leu)
|
|
|
|
NM_000465.4(BARD1):c.1255A>G (p.Asn419Asp)
|
rs199834790
|
|
|
NM_000465.4(BARD1):c.1256A>C (p.Asn419Thr)
|
|
|
|
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)
|
rs776723079
|
|
|
NM_000465.4(BARD1):c.1258A>G (p.Met420Val)
|
rs1694942545
|
|
|
NM_000465.4(BARD1):c.1259T>C (p.Met420Thr)
|
rs786203217
|
|
|
NM_000465.4(BARD1):c.125A>G (p.Asp42Gly)
|
|
|
|
NM_000465.4(BARD1):c.1261G>A (p.Ala421Thr)
|
rs2106107801
|
|
|
NM_000465.4(BARD1):c.1264G>A (p.Val422Met)
|
rs876660910
|
|
|
NM_000465.4(BARD1):c.1267A>C (p.Lys423Gln)
|
rs201146688
|
|
|
NM_000465.4(BARD1):c.1267A>G (p.Lys423Glu)
|
|
|
|
NM_000465.4(BARD1):c.1268A>C (p.Lys423Thr)
|
rs749383704
|
|
|
NM_000465.4(BARD1):c.1270A>G (p.Arg424Gly)
|
rs1553622123
|
|
|
NM_000465.4(BARD1):c.1271G>T (p.Arg424Ile)
|
rs1559423360
|
|
|
NM_000465.4(BARD1):c.1272A>C (p.Arg424Ser)
|
rs1559423356
|
|
|
NM_000465.4(BARD1):c.1273A>G (p.Asn425Asp)
|
rs2106107709
|
|
|
NM_000465.4(BARD1):c.1274A>G (p.Asn425Ser)
|
rs876659775
|
|
|
NM_000465.4(BARD1):c.1275T>A (p.Asn425Lys)
|
rs2106107701
|
|
|
NM_000465.4(BARD1):c.1276C>A (p.His426Asn)
|
rs786203499
|
|
|
NM_000465.4(BARD1):c.1276_1278del (p.His426del)
|
rs1694939793
|
|
|
NM_000465.4(BARD1):c.1277A>G (p.His426Arg)
|
rs1553622117
|
|
|
NM_000465.4(BARD1):c.1279A>G (p.Arg427Gly)
|
rs2106107666
|
|
|
NM_000465.4(BARD1):c.127C>G (p.Arg43Gly)
|
rs752871324
|
|
|
NM_000465.4(BARD1):c.127C>T (p.Arg43Cys)
|
rs752871324
|
|
|
NM_000465.4(BARD1):c.1280G>T (p.Arg427Ile)
|
rs876660639
|
|
|
NM_000465.4(BARD1):c.1280GAG[1] (p.Gly428del)
|
rs878853997
|
|
|
NM_000465.4(BARD1):c.1281A>C (p.Arg427Ser)
|
rs1553622109
|
|
|
NM_000465.4(BARD1):c.1282G>A (p.Gly428Arg)
|
rs1553622106
|
|
|
NM_000465.4(BARD1):c.1283G>C (p.Gly428Ala)
|
rs1272940739
|
|
|
NM_000465.4(BARD1):c.1285G>A (p.Glu429Lys)
|
rs878853998
|
|
|
NM_000465.4(BARD1):c.1286A>C (p.Glu429Ala)
|
rs1559423277
|
|
|
NM_000465.4(BARD1):c.1286A>G (p.Glu429Gly)
|
|
|
|
NM_000465.4(BARD1):c.1288A>C (p.Thr430Pro)
|
|
|
|
NM_000465.4(BARD1):c.1288A>G (p.Thr430Ala)
|
rs1574815970
|
|
|
NM_000465.4(BARD1):c.1289C>T (p.Thr430Ile)
|
rs587780015
|
|
|
NM_000465.4(BARD1):c.128G>A (p.Arg43His)
|
rs1060501305
|
|
|
NM_000465.4(BARD1):c.128G>T (p.Arg43Leu)
|
rs1060501305
|
|
|
NM_000465.4(BARD1):c.1292T>C (p.Leu431Ser)
|
rs1553622095
|
|
|
NM_000465.4(BARD1):c.1297C>T (p.His433Tyr)
|
rs1574815914
|
|
|
NM_000465.4(BARD1):c.1297_1298insTATTAAGTA (p.His433delinsLeuLeuSerAsn)
|
rs1694936957
|
|
|
NM_000465.4(BARD1):c.12T>G (p.Asn4Lys)
|
|
|
|
NM_000465.4(BARD1):c.1300A>G (p.Ile434Val)
|
rs758049210
|
|
|
NM_000465.4(BARD1):c.1303G>T (p.Ala435Ser)
|
|
|
|
NM_000465.4(BARD1):c.1304C>T (p.Ala435Val)
|
rs1574815873
|
|
|
NM_000465.4(BARD1):c.1309A>C (p.Ile437Leu)
|
|
|
|
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val)
|
rs764592698
|
|
|
NM_000465.4(BARD1):c.1309_1314del (p.Ile437_Lys438del)
|
|
|
|
NM_000465.4(BARD1):c.130C>G (p.Leu44Val)
|
rs876658807
|
|
|
NM_000465.4(BARD1):c.1310T>G (p.Ile437Ser)
|
|
|
|
NM_000465.4(BARD1):c.1312A>G (p.Lys438Glu)
|
rs754539312
|
|
|
NM_000465.4(BARD1):c.1313A>C (p.Lys438Thr)
|
|
|
|
NM_000465.4(BARD1):c.1314+3469G>T
|
|
|
|
NM_000465.4(BARD1):c.1314+4G>A
|
rs1553622081
|
|
|
NM_000465.4(BARD1):c.1314+5G>A
|
rs868089048
|
|
|
NM_000465.4(BARD1):c.1314+5G>T
|
rs868089048
|
|
|
NM_000465.4(BARD1):c.1314+5del
|
rs1060501290
|
|
|
NM_000465.4(BARD1):c.1314+6A>C
|
rs1553622073
|
|
|
NM_000465.4(BARD1):c.1314G>A (p.Lys438=)
|
|
|
|
NM_000465.4(BARD1):c.1315-2A>C
|
rs1316885634
|
|
|
NM_000465.4(BARD1):c.1315-2A>T
|
|
|
|
NM_000465.4(BARD1):c.1315-4405C>T
|
|
|
|
NM_000465.4(BARD1):c.1316G>A (p.Gly439Asp)
|
rs1694366890
|
|
|
NM_000465.4(BARD1):c.1316G>T (p.Gly439Val)
|
|
|
|
NM_000465.4(BARD1):c.1318G>A (p.Asp440Asn)
|
rs876658999
|
|
|
NM_000465.4(BARD1):c.1319A>G (p.Asp440Gly)
|
rs753446928
|
|
|
NM_000465.4(BARD1):c.1321A>G (p.Ile441Val)
|
|
|
|
NM_000465.4(BARD1):c.1324C>T (p.Pro442Ser)
|
rs1403432043
|
|
|
NM_000465.4(BARD1):c.1325C>G (p.Pro442Arg)
|
|
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
|
NM_000465.4(BARD1):c.1327T>C (p.Ser443Pro)
|
|
|
|
NM_000465.4(BARD1):c.1330G>A (p.Val444Ile)
|
rs1694364820
|
|
|
NM_000465.4(BARD1):c.1331_1333del (p.Val444del)
|
rs1553619748
|
|
|
NM_000465.4(BARD1):c.1333G>A (p.Glu445Lys)
|
rs1553619735
|
|
|
NM_000465.4(BARD1):c.1335A>C (p.Glu445Asp)
|
rs1574792945
|
|
|
NM_000465.4(BARD1):c.1337A>G (p.Tyr446Cys)
|
rs1406008867
|
|
|
NM_000465.4(BARD1):c.133G>A (p.Glu45Lys)
|
rs1553628365
|
|
|
NM_000465.4(BARD1):c.1343T>C (p.Leu448Ser)
|
rs1694363292
|
|
|
NM_000465.4(BARD1):c.1345C>G (p.Gln449Glu)
|
|
|
|
NM_000465.4(BARD1):c.1348A>C (p.Asn450His)
|
rs776756736
|
|
|
NM_000465.4(BARD1):c.1349A>G (p.Asn450Ser)
|
rs1694362231
|
|
|
NM_000465.4(BARD1):c.1350T>A (p.Asn450Lys)
|
rs876660753
|
|
|
NM_000465.4(BARD1):c.1350T>G (p.Asn450Lys)
|
rs876660753
|
|
|
NM_000465.4(BARD1):c.1352G>A (p.Gly451Glu)
|
rs771410310
|
|
|
NM_000465.4(BARD1):c.1354A>G (p.Ser452Gly)
|
rs2106081294
|
|
|
NM_000465.4(BARD1):c.1358A>T (p.Asp453Val)
|
|
|
|
NM_000465.4(BARD1):c.135G>C (p.Glu45Asp)
|
|
|
|
NM_000465.4(BARD1):c.1360C>A (p.Pro454Thr)
|
|
|
|
NM_000465.4(BARD1):c.1360C>T (p.Pro454Ser)
|
rs730881408
|
|
|
NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)
|
rs772285343
|
|
|
NM_000465.4(BARD1):c.1363A>G (p.Asn455Asp)
|
rs1694360689
|
|
|
NM_000465.4(BARD1):c.1366G>T (p.Val456Phe)
|
rs1553619705
|
|
|
NM_000465.4(BARD1):c.1369A>G (p.Lys457Glu)
|
|
|
|
NM_000465.4(BARD1):c.136A>G (p.Lys46Glu)
|
rs1426560516
|
|
|
NM_000465.4(BARD1):c.1373A>G (p.Asp458Gly)
|
rs876660108
|
|
|
NM_000465.4(BARD1):c.1374C>A (p.Asp458Glu)
|
rs1553619701
|
|
|
NM_000465.4(BARD1):c.1374C>G (p.Asp458Glu)
|
|
|
|
NM_000465.4(BARD1):c.1375C>A (p.His459Asn)
|
rs2106081184
|
|
|
NM_000465.4(BARD1):c.1376A>G (p.His459Arg)
|
rs587781621
|
|
|
NM_000465.4(BARD1):c.1378G>A (p.Ala460Thr)
|
rs878854000
|
|
|
NM_000465.4(BARD1):c.1379C>T (p.Ala460Val)
|
rs2106081153
|
|
|
NM_000465.4(BARD1):c.137A>G (p.Lys46Arg)
|
|
|
|
NM_000465.4(BARD1):c.137A>T (p.Lys46Met)
|
|
|
|
NM_000465.4(BARD1):c.1381G>A (p.Gly461Arg)
|
|
|
|
NM_000465.4(BARD1):c.1381G>T (p.Gly461Ter)
|
|
|
|
NM_000465.4(BARD1):c.1382G>A (p.Gly461Glu)
|
rs1694358968
|
|
|
NM_000465.4(BARD1):c.1382G>T (p.Gly461Val)
|
rs1694358968
|
|
|
NM_000465.4(BARD1):c.1384T>C (p.Trp462Arg)
|
rs1694358697
|
|
|
NM_000465.4(BARD1):c.1387A>G (p.Thr463Ala)
|
|
|
|
NM_000465.4(BARD1):c.1388C>G (p.Thr463Arg)
|
rs957472472
|
|
|
NM_000465.4(BARD1):c.1388C>T (p.Thr463Ile)
|
rs957472472
|
|
|
NM_000465.4(BARD1):c.138G>C (p.Lys46Asn)
|
|
|
|
NM_000465.4(BARD1):c.1390C>T (p.Pro464Ser)
|
rs1553619693
|
|
|
NM_000465.4(BARD1):c.1391C>G (p.Pro464Arg)
|
|
|
|
NM_000465.4(BARD1):c.1391C>T (p.Pro464Leu)
|
rs2106081070
|
|
|
NM_000465.4(BARD1):c.1395+14T>A
|
rs781216748
|
|
|
NM_000465.4(BARD1):c.1395+1G>C
|
|
|
|
NM_000465.4(BARD1):c.1395G>A (p.Leu465=)
|
rs755655218
|
|
|
NM_000465.4(BARD1):c.1396-10A>G
|
|
|
|
NM_000465.4(BARD1):c.1396-14A>G
|
|
|
|
NM_000465.4(BARD1):c.1396-3T>C
|
rs1574789181
|
|
|
NM_000465.4(BARD1):c.1396-3T>G
|
rs1574789181
|
|
|
NM_000465.4(BARD1):c.1396-5A>G
|
rs1559410251
|
|
|
NM_000465.4(BARD1):c.1397A>T (p.His466Leu)
|
|
|
|
NM_000465.4(BARD1):c.1398T>G (p.His466Gln)
|
rs1694278620
|
|
|
NM_000465.4(BARD1):c.139C>G (p.Leu47Val)
|
rs1696454642
|
|
|
NM_000465.4(BARD1):c.13C>T (p.Arg5Trp)
|
rs766441081
|
|
|
NM_000465.4(BARD1):c.1400A>G (p.Glu467Gly)
|
rs993612204
|
|
|
NM_000465.4(BARD1):c.1402G>A (p.Ala468Thr)
|
rs1574789137
|
|
|
NM_000465.4(BARD1):c.1402G>T (p.Ala468Ser)
|
rs1574789137
|
|
|
NM_000465.4(BARD1):c.1403C>G (p.Ala468Gly)
|
rs886055599
|
|
|
NM_000465.4(BARD1):c.1403C>T (p.Ala468Val)
|
rs886055599
|
|
|
NM_000465.4(BARD1):c.1405T>A (p.Cys469Ser)
|
|
|
|
NM_000465.4(BARD1):c.1405T>G (p.Cys469Gly)
|
rs940797218
|
|
|
NM_000465.4(BARD1):c.1406G>C (p.Cys469Ser)
|
rs587782040
|
|
|
NM_000465.4(BARD1):c.140TGC[1] (p.Leu48del)
|
rs2106170849
|
|
|
NM_000465.4(BARD1):c.1411C>T (p.His471Tyr)
|
rs867587389
|
|
|
NM_000465.4(BARD1):c.1412A>C (p.His471Pro)
|
rs1694277099
|
|
|
NM_000465.4(BARD1):c.1412A>G (p.His471Arg)
|
rs1694277099
|
|
|
NM_000465.4(BARD1):c.1419C>G (p.His473Gln)
|
rs786203473
|
|
|
NM_000465.4(BARD1):c.1421T>C (p.Leu474Pro)
|
rs2106077115
|
|
|
NM_000465.4(BARD1):c.1424A>T (p.Lys475Met)
|
|
|
|
NM_000465.4(BARD1):c.1425G>C (p.Lys475Asn)
|
|
|
|
NM_000465.4(BARD1):c.1427T>C (p.Val476Ala)
|
rs2106077102
|
|
|
NM_000465.4(BARD1):c.1429G>A (p.Val477Met)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1429G>C (p.Val477Leu)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1429G>T (p.Val477Leu)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1435T>G (p.Leu479Val)
|
rs1574788948
|
|
|
NM_000465.4(BARD1):c.1439T>G (p.Leu480Trp)
|
|
|
|
NM_000465.4(BARD1):c.143T>A (p.Leu48Gln)
|
rs1574868968
|
|
|
NM_000465.4(BARD1):c.1440G>C (p.Leu480Phe)
|
rs1354724039
|
|
|
NM_000465.4(BARD1):c.1440G>T (p.Leu480Phe)
|
|
|
|
NM_000465.4(BARD1):c.1441C>T (p.Leu481Phe)
|
rs1466783591
|
|
|
NM_000465.4(BARD1):c.1442T>C (p.Leu481Pro)
|
rs1694274375
|
|
|
NM_000465.4(BARD1):c.1442T>G (p.Leu481Arg)
|
rs1694274375
|
|
|
NM_000465.4(BARD1):c.1446G>C (p.Gln482His)
|
rs1694273946
|
|
|
NM_000465.4(BARD1):c.1448A>T (p.His483Leu)
|
rs587781874
|
|
|
NM_000465.4(BARD1):c.1454C>G (p.Ala485Gly)
|
|
|
|
NM_000465.4(BARD1):c.1454C>T (p.Ala485Val)
|
rs866261211
|
|
|
NM_000465.4(BARD1):c.1457T>C (p.Leu486Ser)
|
rs1559410003
|
|
|
NM_000465.4(BARD1):c.1459G>A (p.Val487Met)
|
rs1553619294
|
|
|
NM_000465.4(BARD1):c.145C>T (p.Arg49Cys)
|
rs1696453597
|
|
|
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser)
|
rs1057518894
|
|
|
NM_000465.4(BARD1):c.1465A>T (p.Thr489Ser)
|
|
|
|
NM_000465.4(BARD1):c.1468A>G (p.Thr490Ala)
|
rs780964209
|
|
|
NM_000465.4(BARD1):c.1469C>G (p.Thr490Ser)
|
|
|
|
NM_000465.4(BARD1):c.1469C>T (p.Thr490Ile)
|
rs1379944646
|
|
|
NM_000465.4(BARD1):c.146G>C (p.Arg49Pro)
|
|
|
|
NM_000465.4(BARD1):c.1471G>C (p.Gly491Arg)
|
rs587782003
|
|
|
NM_000465.4(BARD1):c.1472G>A (p.Gly491Glu)
|
rs746790865
|
|
|
NM_000465.4(BARD1):c.1474T>C (p.Tyr492His)
|
rs1299360165
|
|
|
NM_000465.4(BARD1):c.1475A>G (p.Tyr492Cys)
|
rs587782000
|
|
|
NM_000465.4(BARD1):c.1475A>T (p.Tyr492Phe)
|
rs587782000
|
|
|
NM_000465.4(BARD1):c.1477C>G (p.Gln493Glu)
|
|
|
|
NM_000465.4(BARD1):c.1479A>T (p.Gln493His)
|
rs375029767
|
|
|
NM_000465.4(BARD1):c.1481A>G (p.Asn494Ser)
|
rs587781334
|
|
|
NM_000465.4(BARD1):c.1483G>A (p.Asp495Asn)
|
|
|
|
NM_000465.4(BARD1):c.1485C>G (p.Asp495Glu)
|
rs1694268958
|
|
|
NM_000465.4(BARD1):c.1487C>T (p.Ser496Leu)
|
rs1405646805
|
|
|
NM_000465.4(BARD1):c.1489C>A (p.Pro497Thr)
|
|
|
|
NM_000465.4(BARD1):c.1492C>G (p.Leu498Val)
|
rs1553619265
|
|
|
NM_000465.4(BARD1):c.1495C>A (p.His499Asn)
|
rs748867360
|
|
|
NM_000465.4(BARD1):c.1495C>G (p.His499Asp)
|
rs748867360
|
|
|
NM_000465.4(BARD1):c.1498G>C (p.Asp500His)
|
|
|
|
NM_000465.4(BARD1):c.1499A>G (p.Asp500Gly)
|
rs878854001
|
|
|
NM_000465.4(BARD1):c.1499A>T (p.Asp500Val)
|
rs878854001
|
|
|
NM_000465.4(BARD1):c.149G>A (p.Cys50Tyr)
|
|
|
|
NM_000465.4(BARD1):c.1500T>G (p.Asp500Glu)
|
rs1694266892
|
|
|
NM_000465.4(BARD1):c.1505C>T (p.Ala502Val)
|
rs2106076564
|
|
|
NM_000465.4(BARD1):c.1510A>G (p.Asn504Asp)
|
|
|
|
NM_000465.4(BARD1):c.1511A>G (p.Asn504Ser)
|
rs1559409730
|
|
|
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg)
|
rs864622240
|
|
|
NM_000465.4(BARD1):c.1513G>C (p.Gly505Arg)
|
rs864622240
|
|
|
NM_000465.4(BARD1):c.1514G>A (p.Gly505Glu)
|
rs1060501304
|
|
|
NM_000465.4(BARD1):c.1518T>A (p.His506Gln)
|
rs2070093
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
|
NM_000465.4(BARD1):c.1519G>T (p.Val507Leu)
|
rs2070094
|
|
|
NM_000465.4(BARD1):c.1523A>T (p.Asp508Val)
|
rs769529578
|
|
|
NM_000465.4(BARD1):c.1525A>C (p.Ile509Leu)
|
rs876658576
|
|
|
NM_000465.4(BARD1):c.1525A>G (p.Ile509Val)
|
rs876658576
|
|
|
NM_000465.4(BARD1):c.1526T>C (p.Ile509Thr)
|
rs1553619225
|
|
|
NM_000465.4(BARD1):c.1528G>C (p.Val510Leu)
|
|
|
|
NM_000465.4(BARD1):c.1528G>T (p.Val510Phe)
|
rs2106076401
|
|
|
NM_000465.4(BARD1):c.152C>G (p.Ser51Trp)
|
rs766788652
|
|
|
NM_000465.4(BARD1):c.1532A>C (p.Lys511Thr)
|
rs2106076398
|
|
|
NM_000465.4(BARD1):c.1532A>G (p.Lys511Arg)
|
|
|
|
NM_000465.4(BARD1):c.1537T>G (p.Leu513Val)
|
rs1553619217
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
|
NM_000465.4(BARD1):c.1541T>A (p.Leu514His)
|
|
|
|
NM_000465.4(BARD1):c.1544C>A (p.Ser515Tyr)
|
rs746878509
|
|
|
NM_000465.4(BARD1):c.1544C>T (p.Ser515Phe)
|
rs746878509
|
|
|
NM_000465.4(BARD1):c.1546T>C (p.Tyr516His)
|
rs1574788120
|
|
|
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys)
|
rs876660325
|
|
|
NM_000465.4(BARD1):c.1547A>T (p.Tyr516Phe)
|
rs876660325
|
|
|
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg)
|
rs1553619208
|
|
|
NM_000465.4(BARD1):c.154_155delinsTT (p.Arg52Phe)
|
|
|
|
NM_000465.4(BARD1):c.1552G>A (p.Ala518Thr)
|
rs867639431
|
|
|
NM_000465.4(BARD1):c.1553C>A (p.Ala518Asp)
|
|
|
|
NM_000465.4(BARD1):c.1555T>C (p.Ser519Pro)
|
rs1553619206
|
|
|
NM_000465.4(BARD1):c.1556C>A (p.Ser519Tyr)
|
rs780106810
|
|
|
NM_000465.4(BARD1):c.1556C>T (p.Ser519Phe)
|
rs780106810
|
|
|
NM_000465.4(BARD1):c.1559G>A (p.Arg520Lys)
|
|
|
|
NM_000465.4(BARD1):c.1562A>G (p.Asn521Ser)
|
rs1553619203
|
|
|
NM_000465.4(BARD1):c.1562A>T (p.Asn521Ile)
|
rs1553619203
|
|
|
NM_000465.4(BARD1):c.1564G>A (p.Ala522Thr)
|
rs730881419
|
|
|
NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser)
|
rs730881419
|
|
|
NM_000465.4(BARD1):c.1567G>A (p.Val523Ile)
|
|
|
|
NM_000465.4(BARD1):c.1568+13_1568+14inv
|
|
|
|
NM_000465.4(BARD1):c.1568+2dup
|
|
|
|
NM_000465.4(BARD1):c.1568+4A>T
|
|
|
|
NM_000465.4(BARD1):c.1568+5G>A
|
|
|
|
NM_000465.4(BARD1):c.1568+6420A>G
|
rs1325938441
|
|
|
NM_000465.4(BARD1):c.1568+6T>A
|
rs1553619192
|
|
|
NM_000465.4(BARD1):c.1569-19T>G
|
|
|
|
NM_000465.4(BARD1):c.1569-3C>G
|
rs1553616422
|
|
|
NM_000465.4(BARD1):c.1569-6147A>G
|
|
|
|
NM_000465.4(BARD1):c.1569-7T>G
|
rs1559395026
|
|
|
NM_000465.4(BARD1):c.1570A>C (p.Asn524His)
|
|
|
|
NM_000465.4(BARD1):c.1570A>G (p.Asn524Asp)
|
|
|
|
NM_000465.4(BARD1):c.1573A>G (p.Ile525Val)
|
rs536711200
|
|
|
NM_000465.4(BARD1):c.1575A>G (p.Ile525Met)
|
rs1559394981
|
|
|
NM_000465.4(BARD1):c.1579G>A (p.Gly527Ser)
|
rs1060501301
|
|
|
NM_000465.4(BARD1):c.1579G>T (p.Gly527Cys)
|
rs1060501301
|
|
|
NM_000465.4(BARD1):c.157T>G (p.Cys53Gly)
|
rs1354779388
|
|
|
NM_000465.4(BARD1):c.158+5A>G
|
rs1057522270
|
|
|
NM_000465.4(BARD1):c.158+6G>T
|
rs1696451585
|
|
|
NM_000465.4(BARD1):c.1580G>T (p.Gly527Val)
|
rs587781507
|
|
|
NM_000465.4(BARD1):c.1585C>G (p.Arg529Gly)
|
rs375515606
|
|
|
NM_000465.4(BARD1):c.1588C>T (p.Pro530Ser)
|
rs760144724
|
|
|
NM_000465.4(BARD1):c.158G>A (p.Cys53Tyr)
|
rs747582517
|
|
|
NM_000465.4(BARD1):c.159-3C>A
|
rs1695796591
|
|
|
NM_000465.4(BARD1):c.159-3C>T
|
rs1695796591
|
|
|
NM_000465.4(BARD1):c.159-4A>G
|
rs1060501299
|
|
|
NM_000465.4(BARD1):c.159-5A>G
|
rs876658380
|
|
|
NM_000465.4(BARD1):c.159-7C>A
|
rs533403598
|
|
|
NM_000465.4(BARD1):c.1594G>C (p.Asp532His)
|
|
|
|
NM_000465.4(BARD1):c.1595A>G (p.Asp532Gly)
|
|
|
|
NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)
|
rs761673463
|
|
|
NM_000465.4(BARD1):c.1600A>C (p.Thr534Pro)
|
rs786202280
|
|
|
NM_000465.4(BARD1):c.1600A>G (p.Thr534Ala)
|
|
|
|
NM_000465.4(BARD1):c.1601C>A (p.Thr534Lys)
|
|
|
|
NM_000465.4(BARD1):c.1604A>G (p.Asp535Gly)
|
rs1574756445
|
|
|
NM_000465.4(BARD1):c.1605T>A (p.Asp535Glu)
|
|
|
|
NM_000465.4(BARD1):c.1606G>A (p.Asp536Asn)
|
rs866000739
|
|
|
NM_000465.4(BARD1):c.1606G>C (p.Asp536His)
|
rs866000739
|
|
|
NM_000465.4(BARD1):c.1607A>G (p.Asp536Gly)
|
rs1559394867
|
|
|
NM_000465.4(BARD1):c.1607A>T (p.Asp536Val)
|
rs1559394867
|
|
|
NM_000465.4(BARD1):c.1610A>G (p.Glu537Gly)
|
rs1553616390
|
|
|
NM_000465.4(BARD1):c.1611A>C (p.Glu537Asp)
|
|
|
|
NM_000465.4(BARD1):c.1616T>C (p.Met539Thr)
|
rs1574756354
|
|
|
NM_000465.4(BARD1):c.161C>A (p.Thr54Asn)
|
rs879253878
|
|
|
NM_000465.4(BARD1):c.1620A>T (p.Lys540Asn)
|
rs747076015
|
|
|
NM_000465.4(BARD1):c.1621T>C (p.Ser541Pro)
|
rs2106038879
|
|
|
NM_000465.4(BARD1):c.1633C>G (p.Leu545Val)
|
rs779307636
|
|
|
NM_000465.4(BARD1):c.1634T>C (p.Leu545Pro)
|
rs876658145
|
|
|
NM_000465.4(BARD1):c.163A>G (p.Asn55Asp)
|
rs1039799564
|
|
|
NM_000465.4(BARD1):c.163A>T (p.Asn55Tyr)
|
rs1039799564
|
|
|
NM_000465.4(BARD1):c.1640A>C (p.Glu547Ala)
|
rs1559394731
|
|
|
NM_000465.4(BARD1):c.1642A>G (p.Lys548Glu)
|
rs1553616362
|
|
|
NM_000465.4(BARD1):c.1644G>T (p.Lys548Asn)
|
rs1064796411
|
|
|
NM_000465.4(BARD1):c.1648G>C (p.Glu550Gln)
|
|
|
|
NM_000465.4(BARD1):c.1648_1649delinsAT (p.Glu550Ile)
|
rs1693500792
|
|
|
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu)
|
rs587781707
|
|
|
NM_000465.4(BARD1):c.1654T>C (p.Ser552Pro)
|
rs1693500175
|
|
|
NM_000465.4(BARD1):c.1655C>G (p.Ser552Cys)
|
rs876660617
|
|
|
NM_000465.4(BARD1):c.1655C>T (p.Ser552Phe)
|
rs876660617
|
|
|
NM_000465.4(BARD1):c.1658C>T (p.Ser553Leu)
|
|
|
|
NM_000465.4(BARD1):c.1661C>G (p.Ala554Gly)
|
|
|
|
NM_000465.4(BARD1):c.1661C>T (p.Ala554Val)
|
|
|
|
NM_000465.4(BARD1):c.1664G>A (p.Ser555Asn)
|
rs1693499055
|
|
|
NM_000465.4(BARD1):c.1668C>A (p.His556Gln)
|
rs2106038572
|
|
|
NM_000465.4(BARD1):c.166A>C (p.Ile56Leu)
|
rs1060501302
|
|
|
NM_000465.4(BARD1):c.166A>G (p.Ile56Val)
|
rs1060501302
|
|
|
NM_000465.4(BARD1):c.1670G>T (p.Cys557Phe)
|
|
|
|
NM_000465.4(BARD1):c.1672T>A (p.Ser558Thr)
|
|
|
|
NM_000465.4(BARD1):c.1673C>T (p.Ser558Leu)
|
rs1416123568
|
|
|
NM_000465.4(BARD1):c.1674A>G (p.Ser558=)
|
rs1060501313
|
|
|
NM_000465.4(BARD1):c.1675G>A (p.Val559Ile)
|
rs2106038526
|
|
|
NM_000465.4(BARD1):c.1677+3A>G
|
rs1553616344
|
|
|
NM_000465.4(BARD1):c.1677+4A>C
|
|
|
|
NM_000465.4(BARD1):c.1677+4A>G
|
rs2106038503
|
|
|
NM_000465.4(BARD1):c.1677+4_1677+7del
|
rs1064795776
|
|
|
NM_000465.4(BARD1):c.1677+4del
|
rs1693497293
|
|
|
NM_000465.4(BARD1):c.1677+5G>C
|
|
|
|
NM_000465.4(BARD1):c.1677+6T>C
|
rs1400074259
|
|
|
NM_000465.4(BARD1):c.1677+7A>G
|
|
|
|
NM_000465.4(BARD1):c.1678-3C>T
|
|
|
|
NM_000465.4(BARD1):c.1678-9T>G
|
|
|
|
NM_000465.4(BARD1):c.1678A>C (p.Met560Leu)
|
rs587780020
|
|
|
NM_000465.4(BARD1):c.167T>G (p.Ile56Ser)
|
rs1695794895
|
|
|
NM_000465.4(BARD1):c.1680G>A (p.Met560Ile)
|
rs2106021467
|
|
|
NM_000465.4(BARD1):c.1682A>G (p.Asn561Ser)
|
rs1165939780
|
|
|
NM_000465.4(BARD1):c.1684A>G (p.Thr562Ala)
|
|
|
|
NM_000465.4(BARD1):c.1685C>G (p.Thr562Ser)
|
rs730881420
|
|
|
NM_000465.4(BARD1):c.1685C>T (p.Thr562Ile)
|
rs730881420
|
|
|
NM_000465.4(BARD1):c.1688G>A (p.Gly563Glu)
|
rs1693088188
|
|
|
NM_000465.4(BARD1):c.1690C>G (p.Gln564Glu)
|
rs587780021
|
|
|
NM_000465.4(BARD1):c.1691A>C (p.Gln564Pro)
|
rs1693087698
|
|
|
NM_000465.4(BARD1):c.1693C>A (p.Arg565Ser)
|
|
|
|
NM_000465.4(BARD1):c.1697G>A (p.Arg566Lys)
|
rs1357185397
|
|
|
NM_000465.4(BARD1):c.16C>A (p.Gln6Lys)
|
rs876658234
|
|
|
NM_000465.4(BARD1):c.1702G>C (p.Gly568Arg)
|
rs878854002
|
|
|
NM_000465.4(BARD1):c.1703G>C (p.Gly568Ala)
|
rs1007761710
|
|
|
NM_000465.4(BARD1):c.1705C>A (p.Pro569Thr)
|
rs1341946052
|
|
|
NM_000465.4(BARD1):c.1706C>T (p.Pro569Leu)
|
rs1693085872
|
|
|
NM_000465.4(BARD1):c.1709T>C (p.Leu570Pro)
|
|
|
|
NM_000465.4(BARD1):c.1711G>A (p.Val571Ile)
|
rs1397595827
|
|
|
NM_000465.4(BARD1):c.1711G>T (p.Val571Leu)
|
|
|
|
NM_000465.4(BARD1):c.1712T>A (p.Val571Glu)
|
rs1574739590
|
|
|
NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe)
|
rs772222117
|
|
|
NM_000465.4(BARD1):c.1717A>C (p.Ile573Leu)
|
|
|
|
NM_000465.4(BARD1):c.1717A>G (p.Ile573Val)
|
rs1574739553
|
|
|
NM_000465.4(BARD1):c.1718T>G (p.Ile573Arg)
|
|
|
|
NM_000465.4(BARD1):c.1719A>G (p.Ile573Met)
|
rs1272044533
|
|
|
NM_000465.4(BARD1):c.1720G>A (p.Gly574Ser)
|
rs876660437
|
|
|
NM_000465.4(BARD1):c.1721G>A (p.Gly574Asp)
|
|
|
|
NM_000465.4(BARD1):c.1724G>C (p.Ser575Thr)
|
|
|
|
NM_000465.4(BARD1):c.1726G>A (p.Gly576Arg)
|
|
|
|
NM_000465.4(BARD1):c.1727G>A (p.Gly576Glu)
|
rs768793837
|
|
|
NM_000465.4(BARD1):c.1727G>C (p.Gly576Ala)
|
rs768793837
|
|
|
NM_000465.4(BARD1):c.172A>G (p.Arg58Gly)
|
rs1695794289
|
|
|
NM_000465.4(BARD1):c.1733C>T (p.Ser578Phe)
|
rs786202519
|
|
|
NM_000465.4(BARD1):c.1733_1734delinsTC (p.Ser578Phe)
|
rs2106021072
|
|
|
NM_000465.4(BARD1):c.1740ACA[1] (p.Gln582del)
|
|
|
|
NM_000465.4(BARD1):c.1741C>G (p.Gln581Glu)
|
|
|
|
NM_000465.4(BARD1):c.1745A>G (p.Gln582Arg)
|
rs864622329
|
|
|
NM_000465.4(BARD1):c.1747A>C (p.Lys583Gln)
|
|
|
|
NM_000465.4(BARD1):c.1748A>C (p.Lys583Thr)
|
|
|
|
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup)
|
rs763622701
|
|
|
NM_000465.4(BARD1):c.1753C>A (p.Leu585Ile)
|
|
|
|
NM_000465.4(BARD1):c.1753C>G (p.Leu585Val)
|
rs1553615132
|
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
|
NM_000465.4(BARD1):c.1754T>G (p.Leu585Arg)
|
rs786201905
|
|
|
NM_000465.4(BARD1):c.1757G>A (p.Ser586Asn)
|
rs369756202
|
|
|
NM_000465.4(BARD1):c.1757G>C (p.Ser586Thr)
|
|
|
|
NM_000465.4(BARD1):c.1759G>A (p.Glu587Lys)
|
rs780820468
|
|
|
NM_000465.4(BARD1):c.175G>A (p.Glu59Lys)
|
rs1559441880
|
|
|
NM_000465.4(BARD1):c.175G>C (p.Glu59Gln)
|
rs1559441880
|
|
|
NM_000465.4(BARD1):c.1760A>T (p.Glu587Val)
|
|
|
|
NM_000465.4(BARD1):c.1762C>G (p.Leu588Val)
|
rs559584913
|
|
|
NM_000465.4(BARD1):c.1765G>A (p.Ala589Thr)
|
rs547417612
|
|
|
NM_000465.4(BARD1):c.1766C>T (p.Ala589Val)
|
rs1574739157
|
|
|
NM_000465.4(BARD1):c.1768G>A (p.Val590Ile)
|
|
|
|
NM_000465.4(BARD1):c.176A>C (p.Glu59Ala)
|
rs2106145710
|
|
|
NM_000465.4(BARD1):c.1774C>G (p.Leu592Val)
|
|
|
|
NM_000465.4(BARD1):c.1774C>T (p.Leu592Phe)
|
rs1574739070
|
|
|
NM_000465.4(BARD1):c.1777A>G (p.Lys593Glu)
|
rs1693076059
|
|
|
NM_000465.4(BARD1):c.177G>T (p.Glu59Asp)
|
rs1060501307
|
|
|
NM_000465.4(BARD1):c.1781C>A (p.Ala594Asp)
|
|
|
|
NM_000465.4(BARD1):c.1781C>G (p.Ala594Gly)
|
|
|
|
NM_000465.4(BARD1):c.1783A>G (p.Lys595Glu)
|
rs1393141051
|
|
|
NM_000465.4(BARD1):c.1786A>C (p.Lys596Gln)
|
|
|
|
NM_000465.4(BARD1):c.1789T>C (p.Tyr597His)
|
|
|
|
NM_000465.4(BARD1):c.178C>A (p.Pro60Thr)
|
|
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
|
NM_000465.4(BARD1):c.1795G>A (p.Glu599Lys)
|
rs1553615104
|
|
|
NM_000465.4(BARD1):c.1797G>T (p.Glu599Asp)
|
rs1317068399
|
|
|
NM_000465.4(BARD1):c.179C>G (p.Pro60Arg)
|
rs1553625768
|
|
|
NM_000465.4(BARD1):c.179C>T (p.Pro60Leu)
|
|
|
|
NM_000465.4(BARD1):c.17A>G (p.Gln6Arg)
|
rs864622229
|
|
|
NM_000465.4(BARD1):c.17A>T (p.Gln6Leu)
|
rs864622229
|
|
|
NM_000465.4(BARD1):c.1800T>G (p.Phe600Leu)
|
rs1693073708
|
|
|
NM_000465.4(BARD1):c.1805G>T (p.Ser602Ile)
|
rs761883180
|
|
|
NM_000465.4(BARD1):c.1807A>G (p.Thr603Ala)
|
rs1060501285
|
|
|
NM_000465.4(BARD1):c.1809A>G (p.Thr603=)
|
rs1060501292
|
|
|
NM_000465.4(BARD1):c.1810+19G>A
|
rs2106020476
|
|
|
NM_000465.4(BARD1):c.1810+4A>C
|
|
|
|
NM_000465.4(BARD1):c.1810+5G>A
|
rs2106020514
|
|
|
NM_000465.4(BARD1):c.1810G>A (p.Val604Ile)
|
rs1553615089
|
|
|
NM_000465.4(BARD1):c.1810G>T (p.Val604Leu)
|
|
|
|
NM_000465.4(BARD1):c.1813A>G (p.Thr605Ala)
|
rs1693043933
|
|
|
NM_000465.4(BARD1):c.1814C>G (p.Thr605Ser)
|
|
|
|
NM_000465.4(BARD1):c.1814C>T (p.Thr605Ile)
|
rs752292843
|
|
|
NM_000465.4(BARD1):c.1816C>T (p.His606Tyr)
|
rs1559386300
|
|
|
NM_000465.4(BARD1):c.1817A>T (p.His606Leu)
|
|
|
|
NM_000465.4(BARD1):c.1818T>G (p.His606Gln)
|
rs199590147
|
|
|
NM_000465.4(BARD1):c.1819G>A (p.Val607Ile)
|
rs1375593475
|
|
|
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del)
|
rs927014703
|
|
|
NM_000465.4(BARD1):c.181G>A (p.Val61Met)
|
rs2106145664
|
|
|
NM_000465.4(BARD1):c.181G>T (p.Val61Leu)
|
rs2106145664
|
|
|
NM_000465.4(BARD1):c.1820T>A (p.Val607Asp)
|
rs1693042837
|
|
|
NM_000465.4(BARD1):c.1822G>A (p.Val608Ile)
|
rs778987552
|
|
|
NM_000465.4(BARD1):c.1822G>C (p.Val608Leu)
|
|
|
|
NM_000465.4(BARD1):c.1825G>A (p.Val609Ile)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1825G>C (p.Val609Leu)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1825G>T (p.Val609Phe)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1829C>T (p.Pro610Leu)
|
|
|
|
NM_000465.4(BARD1):c.1832G>A (p.Gly611Asp)
|
rs1574737448
|
|
|
NM_000465.4(BARD1):c.1832G>T (p.Gly611Val)
|
|
|
|
NM_000465.4(BARD1):c.1834G>A (p.Asp612Asn)
|
|
|
|
NM_000465.4(BARD1):c.1835A>G (p.Asp612Gly)
|
|
|
|
NM_000465.4(BARD1):c.1836T>G (p.Asp612Glu)
|
|
|
|
NM_000465.4(BARD1):c.1838C>G (p.Ala613Gly)
|
|
|
|
NM_000465.4(BARD1):c.1838C>T (p.Ala613Val)
|
rs146629794
|
|
|
NM_000465.4(BARD1):c.1839A>C (p.Ala613=)
|
|
|
|
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)
|
rs760541768
|
|
|
NM_000465.4(BARD1):c.1845A>T (p.Gln615His)
|
rs1693040542
|
|
|
NM_000465.4(BARD1):c.1847G>T (p.Ser616Ile)
|
rs1475259063
|
|
|
NM_000465.4(BARD1):c.1852T>A (p.Leu618Met)
|
rs1559386134
|
|
|
NM_000465.4(BARD1):c.1853T>G (p.Leu618Trp)
|
rs1553614952
|
|
|
NM_000465.4(BARD1):c.1854G>C (p.Leu618Phe)
|
|
|
|
NM_000465.4(BARD1):c.1856A>G (p.Lys619Arg)
|
rs1574737320
|
|
|
NM_000465.4(BARD1):c.1857G>C (p.Lys619Asn)
|
|
|
|
NM_000465.4(BARD1):c.1858T>C (p.Cys620Arg)
|
rs786203673
|
|
|
NM_000465.4(BARD1):c.1858T>G (p.Cys620Gly)
|
rs786203673
|
|
|
NM_000465.4(BARD1):c.1859G>A (p.Cys620Tyr)
|
rs763018536
|
|
|
NM_000465.4(BARD1):c.185G>A (p.Cys62Tyr)
|
|
|
|
NM_000465.4(BARD1):c.1860T>G (p.Cys620Trp)
|
rs1693039577
|
|
|
NM_000465.4(BARD1):c.1862T>C (p.Met621Thr)
|
rs1574737288
|
|
|
NM_000465.4(BARD1):c.1863G>T (p.Met621Ile)
|
rs587782235
|
|
|
NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe)
|
|
|
|
NM_000465.4(BARD1):c.1865T>C (p.Leu622Pro)
|
|
|
|
NM_000465.4(BARD1):c.1867G>C (p.Gly623Arg)
|
rs587780023
|
|
|
NM_000465.4(BARD1):c.1868G>C (p.Gly623Ala)
|
|
|
|
NM_000465.4(BARD1):c.186T>G (p.Cys62Trp)
|
rs1060501281
|
|
|
NM_000465.4(BARD1):c.1870A>G (p.Ile624Val)
|
|
|
|
NM_000465.4(BARD1):c.1873C>T (p.Leu625Phe)
|
|
|
|
NM_000465.4(BARD1):c.1874T>A (p.Leu625His)
|
rs1217702482
|
|
|
NM_000465.4(BARD1):c.1874T>G (p.Leu625Arg)
|
rs1217702482
|
|
|
NM_000465.4(BARD1):c.1876A>C (p.Asn626His)
|
rs2106018800
|
|
|
NM_000465.4(BARD1):c.1877A>T (p.Asn626Ile)
|
rs587781443
|
|
|
NM_000465.4(BARD1):c.1878T>A (p.Asn626Lys)
|
rs1553614944
|
|
|
NM_000465.4(BARD1):c.187T>G (p.Leu63Val)
|
|
|
|
NM_000465.4(BARD1):c.1883G>A (p.Cys628Tyr)
|
rs1227794803
|
|
|
NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg)
|
rs1020097535
|
|
|
NM_000465.4(BARD1):c.1885T>C (p.Trp629Arg)
|
rs1020097535
|
|
|
NM_000465.4(BARD1):c.1886G>T (p.Trp629Leu)
|
rs747446711
|
|
|
NM_000465.4(BARD1):c.1887G>T (p.Trp629Cys)
|
rs878854003
|
|
|
NM_000465.4(BARD1):c.1895A>C (p.Lys632Thr)
|
rs1693034407
|
|
|
NM_000465.4(BARD1):c.1900G>A (p.Glu634Lys)
|
rs761090896
|
|
|
NM_000465.4(BARD1):c.1902A>C (p.Glu634Asp)
|
rs1559385976
|
|
|
NM_000465.4(BARD1):c.1902A>G (p.Glu634=)
|
rs1559385976
|
|
|
NM_000465.4(BARD1):c.1902A>T (p.Glu634Asp)
|
|
|
|
NM_000465.4(BARD1):c.1903+1933C>G
|
|
|
|
NM_000465.4(BARD1):c.1903+2dup
|
rs1693033415
|
|
|
NM_000465.4(BARD1):c.1903+4A>T
|
rs1553614936
|
|
|
NM_000465.4(BARD1):c.1903+5G>A
|
rs2106018600
|
|
|
NM_000465.4(BARD1):c.1903T>A (p.Trp635Arg)
|
rs1693033615
|
|
|
NM_000465.4(BARD1):c.1903T>G (p.Trp635Gly)
|
rs1693033615
|
|
|
NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG
|
rs2105990964
|
|
|
NM_000465.4(BARD1):c.1904-3C>A
|
|
|
|
NM_000465.4(BARD1):c.1904G>T (p.Trp635Leu)
|
rs1692308262
|
|
|
NM_000465.4(BARD1):c.1905G>C (p.Trp635Cys)
|
|
|
|
NM_000465.4(BARD1):c.1905G>T (p.Trp635Cys)
|
rs773223671
|
|
|
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile)
|
rs1553612541
|
|
|
NM_000465.4(BARD1):c.1909A>G (p.Lys637Glu)
|
rs1553612540
|
|
|
NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1912G>C (p.Ala638Pro)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1912G>T (p.Ala638Ser)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1913C>T (p.Ala638Val)
|
rs1559374246
|
|
|
NM_000465.4(BARD1):c.1915T>G (p.Cys639Gly)
|
rs587781376
|
|
|
NM_000465.4(BARD1):c.1916G>A (p.Cys639Tyr)
|
rs2105990862
|
|
|
NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile)
|
rs1553612535
|
|
|
NM_000465.4(BARD1):c.191G>C (p.Gly64Ala)
|
|
|
|
NM_000465.4(BARD1):c.1924A>G (p.Arg642Gly)
|
rs765487816
|
|
|
NM_000465.4(BARD1):c.1925G>A (p.Arg642Lys)
|
|
|
|
NM_000465.4(BARD1):c.1925G>T (p.Arg642Ile)
|
rs1420797541
|
|
|
NM_000465.4(BARD1):c.1930G>A (p.Val644Ile)
|
rs2105990789
|
|
|
NM_000465.4(BARD1):c.1931T>C (p.Val644Ala)
|
rs1574707186
|
|
|
NM_000465.4(BARD1):c.1931T>G (p.Val644Gly)
|
rs1574707186
|
|
|
NM_000465.4(BARD1):c.1945_1946delinsTT (p.Glu649Leu)
|
rs876659046
|
|
|
NM_000465.4(BARD1):c.1948A>G (p.Lys650Glu)
|
rs1283527672
|
|
|
NM_000465.4(BARD1):c.1949A>G (p.Lys650Arg)
|
rs876659021
|
|
|
NM_000465.4(BARD1):c.1950G>C (p.Lys650Asn)
|
rs1692302613
|
|
|
NM_000465.4(BARD1):c.1954G>A (p.Glu652Lys)
|
rs2105990642
|
|
|
NM_000465.4(BARD1):c.1955A>G (p.Glu652Gly)
|
rs876658395
|
|
|
NM_000465.4(BARD1):c.1957A>G (p.Ile653Val)
|
rs2228455
|
|
|
NM_000465.4(BARD1):c.1960C>G (p.Pro654Ala)
|
rs876658741
|
|
|
NM_000465.4(BARD1):c.1961C>T (p.Pro654Leu)
|
rs587780025
|
|
|
NM_000465.4(BARD1):c.1966G>C (p.Gly656Arg)
|
rs766781362
|
|
|
NM_000465.4(BARD1):c.1966G>T (p.Gly656Cys)
|
rs766781362
|
|
|
NM_000465.4(BARD1):c.1967G>A (p.Gly656Asp)
|
rs572554455
|
|
|
NM_000465.4(BARD1):c.1967G>T (p.Gly656Val)
|
rs572554455
|
|
|
NM_000465.4(BARD1):c.1967_1969dup (p.Gly656_Pro657insArg)
|
rs2105990585
|
|
|
NM_000465.4(BARD1):c.1969C>A (p.Pro657Thr)
|
rs879254244
|
|
|
NM_000465.4(BARD1):c.1970C>T (p.Pro657Leu)
|
rs1559373931
|
|
|
NM_000465.4(BARD1):c.1972C>G (p.Arg658Gly)
|
rs3738888
|
|
|
NM_000465.4(BARD1):c.1973G>C (p.Arg658Pro)
|
rs377227840
|
|
|
NM_000465.4(BARD1):c.1973G>T (p.Arg658Leu)
|
rs377227840
|
|
|
NM_000465.4(BARD1):c.1975A>G (p.Arg659Gly)
|
rs587782534
|
|
|
NM_000465.4(BARD1):c.1976G>C (p.Arg659Thr)
|
rs1559373888
|
|
|
NM_000465.4(BARD1):c.1979G>A (p.Ser660Asn)
|
rs876658774
|
|
|
NM_000465.4(BARD1):c.1979G>T (p.Ser660Ile)
|
rs876658774
|
|
|
NM_000465.4(BARD1):c.1980C>A (p.Ser660Arg)
|
|
|
|
NM_000465.4(BARD1):c.1981A>G (p.Arg661Gly)
|
rs1060501283
|
|
|
NM_000465.4(BARD1):c.1982G>A (p.Arg661Lys)
|
rs2105990473
|
|
|
NM_000465.4(BARD1):c.1982G>C (p.Arg661Thr)
|
rs2105990473
|
|
|
NM_000465.4(BARD1):c.1983G>T (p.Arg661Ser)
|
|
|
|
NM_000465.4(BARD1):c.1989C>A (p.Asn663Lys)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.1991G>A (p.Arg664Lys)
|
rs1574706698
|
|
|
NM_000465.4(BARD1):c.1994A>G (p.Glu665Gly)
|
rs587780026
|
|
|
NM_000465.4(BARD1):c.1996C>G (p.Gln666Glu)
|
rs730881422
|
|
|
NM_000465.4(BARD1):c.1998G>C (p.Gln666His)
|
rs2105990386
|
|
|
NM_000465.4(BARD1):c.1A>G (p.Met1Val)
|
|
|
|
NM_000465.4(BARD1):c.2001+16T>G
|
|
|
|
NM_000465.4(BARD1):c.2001+20A>G
|
rs1236240321
|
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
|
NM_000465.4(BARD1):c.2001+3_2001+6del
|
rs1559373773
|
|
|
NM_000465.4(BARD1):c.2001+5T>G
|
rs1692296244
|
|
|
NM_000465.4(BARD1):c.2001+6_2001+8del
|
rs778163347
|
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-3C>T
|
rs1692231658
|
|
|
NM_000465.4(BARD1):c.2002-6T>G
|
|
|
|
NM_000465.4(BARD1):c.2006C>T (p.Pro669Leu)
|
rs2105988052
|
|
|
NM_000465.4(BARD1):c.2008A>C (p.Lys670Gln)
|
|
|
|
NM_000465.4(BARD1):c.2009A>C (p.Lys670Thr)
|
rs769302736
|
|
|
NM_000465.4(BARD1):c.2012T>C (p.Leu671Pro)
|
|
|
|
NM_000465.4(BARD1):c.2014T>A (p.Phe672Ile)
|
|
|
|
NM_000465.4(BARD1):c.2017G>T (p.Asp673Tyr)
|
rs1553612232
|
|
|
NM_000465.4(BARD1):c.2018A>G (p.Asp673Gly)
|
|
|
|
NM_000465.4(BARD1):c.2020_2022dup (p.Gly674dup)
|
rs1553612228
|
|
|
NM_000465.4(BARD1):c.2021G>A (p.Gly674Glu)
|
rs1692229510
|
|
|
NM_000465.4(BARD1):c.2021G>T (p.Gly674Val)
|
rs1692229510
|
|
|
NM_000465.4(BARD1):c.2024G>A (p.Cys675Tyr)
|
rs2105987963
|
|
|
NM_000465.4(BARD1):c.2026T>A (p.Tyr676Asn)
|
rs1553612227
|
|
|
NM_000465.4(BARD1):c.2027A>C (p.Tyr676Ser)
|
rs770917842
|
|
|
NM_000465.4(BARD1):c.2027A>G (p.Tyr676Cys)
|
rs770917842
|
|
|
NM_000465.4(BARD1):c.2030T>A (p.Phe677Tyr)
|
rs1259167680
|
|
|
NM_000465.4(BARD1):c.2032T>C (p.Tyr678His)
|
rs1574703830
|
|
|
NM_000465.4(BARD1):c.2033_2035del (p.Tyr678del)
|
|
|
|
NM_000465.4(BARD1):c.2038T>C (p.Trp680Arg)
|
rs2105987880
|
|
|
NM_000465.4(BARD1):c.2042G>A (p.Gly681Glu)
|
rs1327571102
|
|
|
NM_000465.4(BARD1):c.2044A>C (p.Thr682Pro)
|
rs749485640
|
|
|
NM_000465.4(BARD1):c.2044A>G (p.Thr682Ala)
|
rs749485640
|
|
|
NM_000465.4(BARD1):c.2045C>A (p.Thr682Asn)
|
rs1559372592
|
|
|
NM_000465.4(BARD1):c.2048T>G (p.Phe683Cys)
|
|
|
|
NM_000465.4(BARD1):c.204C>G (p.His68Gln)
|
rs1695791038
|
|
|
NM_000465.4(BARD1):c.2050A>G (p.Lys684Glu)
|
rs1559372578
|
|
|
NM_000465.4(BARD1):c.2051A>C (p.Lys684Thr)
|
rs780161956
|
|
|
NM_000465.4(BARD1):c.2053C>G (p.His685Asp)
|
rs1574703727
|
|
|
NM_000465.4(BARD1):c.2055C>G (p.His685Gln)
|
|
|
|
NM_000465.4(BARD1):c.2056_2067del (p.His686_Asp689del)
|
|
|
|
NM_000465.4(BARD1):c.2059C>T (p.Pro687Ser)
|
rs1553612216
|
|
|
NM_000465.4(BARD1):c.2060C>T (p.Pro687Leu)
|
rs2105987758
|
|
|
NM_000465.4(BARD1):c.2064G>C (p.Lys688Asn)
|
rs1553612214
|
|
|
NM_000465.4(BARD1):c.2067C>A (p.Asp689Glu)
|
rs1692224260
|
|
|
NM_000465.4(BARD1):c.2068_2070dup (p.Asn690dup)
|
rs1692224140
|
|
|
NM_000465.4(BARD1):c.2069A>G (p.Asn690Ser)
|
rs2105987704
|
|
|
NM_000465.4(BARD1):c.206TCT[1] (p.Phe70del)
|
rs1060501268
|
|
|
NM_000465.4(BARD1):c.2070C>A (p.Asn690Lys)
|
rs1574703626
|
|
|
NM_000465.4(BARD1):c.2071C>A (p.Leu691Ile)
|
rs1036838204
|
|
|
NM_000465.4(BARD1):c.2074A>C (p.Ile692Leu)
|
rs1574703604
|
|
|
NM_000465.4(BARD1):c.2074A>G (p.Ile692Val)
|
|
|
|
NM_000465.4(BARD1):c.2086A>G (p.Thr696Ala)
|
|
|
|
NM_000465.4(BARD1):c.2087C>T (p.Thr696Ile)
|
rs1289051833
|
|
|
NM_000465.4(BARD1):c.208T>G (p.Phe70Val)
|
|
|
|
NM_000465.4(BARD1):c.2091A>T (p.Ala697=)
|
rs786201573
|
|
|
NM_000465.4(BARD1):c.2092G>A (p.Gly698Ser)
|
rs1559372428
|
|
|
NM_000465.4(BARD1):c.2092G>C (p.Gly698Arg)
|
|
|
|
NM_000465.4(BARD1):c.2093G>A (p.Gly698Asp)
|
rs1553612188
|
|
|
NM_000465.4(BARD1):c.2093G>C (p.Gly698Ala)
|
rs1553612188
|
|
|
NM_000465.4(BARD1):c.2093G>T (p.Gly698Val)
|
rs1553612188
|
|
|
NM_000465.4(BARD1):c.2095G>C (p.Gly699Arg)
|
rs730881423
|
|
|
NM_000465.4(BARD1):c.2096G>A (p.Gly699Glu)
|
rs1196348283
|
|
|
NM_000465.4(BARD1):c.2096G>C (p.Gly699Ala)
|
rs1196348283
|
|
|
NM_000465.4(BARD1):c.2099G>A (p.Gly700Asp)
|
rs2105987498
|
|
|
NM_000465.4(BARD1):c.209T>C (p.Phe70Ser)
|
rs1695790654
|
|
|
NM_000465.4(BARD1):c.209T>G (p.Phe70Cys)
|
rs1695790654
|
|
|
NM_000465.4(BARD1):c.20C>G (p.Pro7Arg)
|
rs1696475875
|
|
|
NM_000465.4(BARD1):c.2102A>T (p.Gln701Leu)
|
rs1553612182
|
|
|
NM_000465.4(BARD1):c.2104A>G (p.Ile702Val)
|
rs587782415
|
|
|
NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)
|
rs752114855
|
|
|
NM_000465.4(BARD1):c.2107C>T (p.Leu703Phe)
|
rs1060501303
|
|
|
NM_000465.4(BARD1):c.210C>G (p.Phe70Leu)
|
|
|
|
NM_000465.4(BARD1):c.2110A>G (p.Ser704Gly)
|
rs876658687
|
|
|
NM_000465.4(BARD1):c.2111G>A (p.Ser704Asn)
|
rs764477334
|
|
|
NM_000465.4(BARD1):c.2113A>G (p.Arg705Gly)
|
rs1064795005
|
|
|
NM_000465.4(BARD1):c.2114G>A (p.Arg705Lys)
|
|
|
|
NM_000465.4(BARD1):c.2114G>C (p.Arg705Thr)
|
rs2105987389
|
|
|
NM_000465.4(BARD1):c.2116A>C (p.Lys706Gln)
|
rs149262370
|
|
|
NM_000465.4(BARD1):c.2117A>G (p.Lys706Arg)
|
rs864622716
|
|
|
NM_000465.4(BARD1):c.2119C>A (p.Pro707Thr)
|
rs1045454971
|
|
|
NM_000465.4(BARD1):c.2119C>T (p.Pro707Ser)
|
rs1045454971
|
|
|
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)
|
rs1060501308
|
|
|
NM_000465.4(BARD1):c.211T>G (p.Cys71Gly)
|
rs1060501308
|
|
|
NM_000465.4(BARD1):c.2120C>G (p.Pro707Arg)
|
|
|
|
NM_000465.4(BARD1):c.2120C>T (p.Pro707Leu)
|
rs1574703290
|
|
|
NM_000465.4(BARD1):c.2125C>T (p.Pro709Ser)
|
rs1040231633
|
|
|
NM_000465.4(BARD1):c.2126C>T (p.Pro709Leu)
|
rs786203474
|
|
|
NM_000465.4(BARD1):c.212G>C (p.Cys71Ser)
|
|
|
|
NM_000465.4(BARD1):c.2131A>C (p.Ser711Arg)
|
|
|
|
NM_000465.4(BARD1):c.2135A>G (p.Asp712Gly)
|
rs2105987279
|
|
|
NM_000465.4(BARD1):c.2137G>T (p.Val713Leu)
|
rs546077003
|
|
|
NM_000465.4(BARD1):c.2138T>G (p.Val713Gly)
|
rs876658193
|
|
|
NM_000465.4(BARD1):c.2138_2140dup (p.Val713_Thr714insMet)
|
rs878854005
|
|
|
NM_000465.4(BARD1):c.2143C>G (p.Gln715Glu)
|
rs1553612164
|
|
|
NM_000465.4(BARD1):c.2144A>G (p.Gln715Arg)
|
|
|
|
NM_000465.4(BARD1):c.2149A>C (p.Ile717Leu)
|
|
|
|
NM_000465.4(BARD1):c.2149A>G (p.Ile717Val)
|
|
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
|
NM_000465.4(BARD1):c.215+3A>G
|
rs1695789652
|
|
|
NM_000465.4(BARD1):c.215+4A>G
|
rs1236748799
|
|
|
NM_000465.4(BARD1):c.215+5G>C
|
|
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
|
NM_000465.4(BARD1):c.2150T>A (p.Ile717Asn)
|
rs876658526
|
|
|
NM_000465.4(BARD1):c.2150T>G (p.Ile717Ser)
|
rs876658526
|
|
|
NM_000465.4(BARD1):c.2158G>T (p.Val720Phe)
|
rs786203188
|
|
|
NM_000465.4(BARD1):c.215G>T (p.Ser72Ile)
|
rs769820924
|
|
|
NM_000465.4(BARD1):c.216-10_216-5del
|
rs2106135604
|
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.216-14_216-7delinsAA
|
rs1695570677
|
|
|
NM_000465.4(BARD1):c.216-6T>A
|
rs1695570324
|
|
|
NM_000465.4(BARD1):c.2161G>T (p.Ala721Ser)
|
rs554708247
|
|
|
NM_000465.4(BARD1):c.2162C>G (p.Ala721Gly)
|
rs1692212919
|
|
|
NM_000465.4(BARD1):c.2164T>C (p.Tyr722His)
|
rs1553612144
|
|
|
NM_000465.4(BARD1):c.2167C>T (p.His723Tyr)
|
rs1245669447
|
|
|
NM_000465.4(BARD1):c.2168A>G (p.His723Arg)
|
rs1553612140
|
|
|
NM_000465.4(BARD1):c.2170G>A (p.Ala724Thr)
|
rs2105987075
|
|
|
NM_000465.4(BARD1):c.2171C>A (p.Ala724Glu)
|
rs587782662
|
|
|
NM_000465.4(BARD1):c.2171C>G (p.Ala724Gly)
|
rs587782662
|
|
|
NM_000465.4(BARD1):c.2174G>A (p.Arg725Lys)
|
|
|
|
NM_000465.4(BARD1):c.2174G>C (p.Arg725Thr)
|
rs1559372078
|
|
|
NM_000465.4(BARD1):c.2174G>T (p.Arg725Ile)
|
rs1559372078
|
|
|
NM_000465.4(BARD1):c.217A>G (p.Asn73Asp)
|
rs1553624840
|
|
|
NM_000465.4(BARD1):c.2180A>G (p.Asp727Gly)
|
rs753074107
|
|
|
NM_000465.4(BARD1):c.2180A>T (p.Asp727Val)
|
rs753074107
|
|
|
NM_000465.4(BARD1):c.2185G>C (p.Asp729His)
|
rs1443031799
|
|
|
NM_000465.4(BARD1):c.2186A>G (p.Asp729Gly)
|
rs1337993937
|
|
|
NM_000465.4(BARD1):c.2186A>T (p.Asp729Val)
|
rs1337993937
|
|
|
NM_000465.4(BARD1):c.2188C>A (p.Gln730Lys)
|
rs1559372004
|
|
|
NM_000465.4(BARD1):c.2188C>G (p.Gln730Glu)
|
rs1559372004
|
|
|
NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro)
|
rs876658253
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.2192G>C (p.Arg731Pro)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.2195T>A (p.Phe732Tyr)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2195T>C (p.Phe732Ser)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
|
NM_000465.4(BARD1):c.2197T>C (p.Cys733Arg)
|
rs977584514
|
|
|
NM_000465.4(BARD1):c.2198G>A (p.Cys733Tyr)
|
|
|
|
NM_000465.4(BARD1):c.2200A>C (p.Thr734Pro)
|
|
|
|
NM_000465.4(BARD1):c.2200A>G (p.Thr734Ala)
|
rs1553612113
|
|
|
NM_000465.4(BARD1):c.2201C>T (p.Thr734Ile)
|
rs1559371927
|
|
|
NM_000465.4(BARD1):c.2203C>G (p.Gln735Glu)
|
|
|
|
NM_000465.4(BARD1):c.2204A>C (p.Gln735Pro)
|
rs1692206255
|
|
|
NM_000465.4(BARD1):c.2204A>G (p.Gln735Arg)
|
rs1692206255
|
|
|
NM_000465.4(BARD1):c.2206T>A (p.Tyr736Asn)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2206T>C (p.Tyr736His)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2206T>G (p.Tyr736Asp)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2207A>G (p.Tyr736Cys)
|
rs587780028
|
|
|
NM_000465.4(BARD1):c.220T>C (p.Cys74Arg)
|
rs1574840055
|
|
|
NM_000465.4(BARD1):c.220T>G (p.Cys74Gly)
|
rs1574840055
|
|
|
NM_000465.4(BARD1):c.2210T>C (p.Ile737Thr)
|
rs1692205410
|
|
|
NM_000465.4(BARD1):c.2215T>C (p.Tyr739His)
|
|
|
|
NM_000465.4(BARD1):c.2215T>G (p.Tyr739Asp)
|
rs876660746
|
|
|
NM_000465.4(BARD1):c.2216A>C (p.Tyr739Ser)
|
rs777013688
|
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
|
|
NM_000465.4(BARD1):c.2218G>A (p.Glu740Lys)
|
rs1692204026
|
|
|
NM_000465.4(BARD1):c.221G>A (p.Cys74Tyr)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.221G>C (p.Cys74Ser)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.221G>T (p.Cys74Phe)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.2221G>A (p.Asp741Asn)
|
|
|
|
NM_000465.4(BARD1):c.2221G>C (p.Asp741His)
|
rs587780029
|
|
|
NM_000465.4(BARD1):c.2221G>T (p.Asp741Tyr)
|
rs587780029
|
|
|
NM_000465.4(BARD1):c.2222A>G (p.Asp741Gly)
|
rs1553612090
|
|
|
NM_000465.4(BARD1):c.2224T>G (p.Leu742Val)
|
rs876659765
|
|
|
NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.2227T>C (p.Cys743Arg)
|
rs1553612082
|
|
|
NM_000465.4(BARD1):c.2228G>A (p.Cys743Tyr)
|
rs1395245809
|
|
|
NM_000465.4(BARD1):c.2230A>G (p.Asn744Asp)
|
rs1553612078
|
|
|
NM_000465.4(BARD1):c.2232T>G (p.Asn744Lys)
|
rs1692202278
|
|
|
NM_000465.4(BARD1):c.2233T>C (p.Tyr745His)
|
rs771109295
|
|
|
NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)
|
rs771109295
|
|
|
NM_000465.4(BARD1):c.2234A>C (p.Tyr745Ser)
|
rs1692201900
|
|
|
NM_000465.4(BARD1):c.2234A>G (p.Tyr745Cys)
|
|
|
|
NM_000465.4(BARD1):c.2237A>G (p.His746Arg)
|
rs878854007
|
|
|
NM_000465.4(BARD1):c.2239C>A (p.Pro747Thr)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.2239C>G (p.Pro747Ala)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.2239C>T (p.Pro747Ser)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.223G>A (p.Val75Ile)
|
rs1559437285
|
|
|
NM_000465.4(BARD1):c.223G>C (p.Val75Leu)
|
rs1559437285
|
|
|
NM_000465.4(BARD1):c.2240C>G (p.Pro747Arg)
|
rs1348871714
|
|
|
NM_000465.4(BARD1):c.2242G>A (p.Glu748Lys)
|
rs879253880
|
|
|
NM_000465.4(BARD1):c.2242G>C (p.Glu748Gln)
|
rs879253880
|
|
|
NM_000465.4(BARD1):c.2243A>G (p.Glu748Gly)
|
rs1553612068
|
|
|
NM_000465.4(BARD1):c.2244G>C (p.Glu748Asp)
|
|
|
|
NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys)
|
rs1692200373
|
|
|
NM_000465.4(BARD1):c.2246G>C (p.Arg749Thr)
|
rs1692200373
|
|
|
NM_000465.4(BARD1):c.2247G>T (p.Arg749Ser)
|
rs1057520455
|
|
|
NM_000465.4(BARD1):c.2248G>T (p.Val750Phe)
|
rs34677017
|
|
|
NM_000465.4(BARD1):c.2249T>A (p.Val750Asp)
|
rs1553612064
|
|
|
NM_000465.4(BARD1):c.2252G>C (p.Arg751Pro)
|
rs587782246
|
|
|
NM_000465.4(BARD1):c.2254C>G (p.Gln752Glu)
|
rs1692198935
|
|
|
NM_000465.4(BARD1):c.2255A>C (p.Gln752Pro)
|
rs755369095
|
|
|
NM_000465.4(BARD1):c.2256G>C (p.Gln752His)
|
rs1692198555
|
|
|
NM_000465.4(BARD1):c.2257G>A (p.Gly753Ser)
|
rs786203405
|
|
|
NM_000465.4(BARD1):c.2257G>T (p.Gly753Cys)
|
rs786203405
|
|
|
NM_000465.4(BARD1):c.2258G>T (p.Gly753Val)
|
rs867281641
|
|
|
NM_000465.4(BARD1):c.2259C>T (p.Gly753=)
|
rs753441393
|
|
|
NM_000465.4(BARD1):c.2261A>C (p.Lys754Thr)
|
|
|
|
NM_000465.4(BARD1):c.2263G>A (p.Val755Ile)
|
rs876659038
|
|
|
NM_000465.4(BARD1):c.2264T>C (p.Val755Ala)
|
rs1553612049
|
|
|
NM_000465.4(BARD1):c.2264T>G (p.Val755Gly)
|
|
|
|
NM_000465.4(BARD1):c.2268G>C (p.Trp756Cys)
|
rs786202118
|
|
|
NM_000465.4(BARD1):c.226A>C (p.Ser76Arg)
|
|
|
|
NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)
|
rs1064796724
|
|
|
NM_000465.4(BARD1):c.2272G>A (p.Ala758Thr)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2272G>T (p.Ala758Ser)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2273C>A (p.Ala758Asp)
|
rs1574701935
|
|
|
NM_000465.4(BARD1):c.2273C>T (p.Ala758Val)
|
rs1574701935
|
|
|
NM_000465.4(BARD1):c.2275C>G (p.Pro759Ala)
|
rs1318628468
|
|
|
NM_000465.4(BARD1):c.2275C>T (p.Pro759Ser)
|
rs1318628468
|
|
|
NM_000465.4(BARD1):c.2275_2276delinsAT (p.Pro759Ile)
|
rs1692195261
|
|
|
NM_000465.4(BARD1):c.2278T>C (p.Ser760Pro)
|
rs1692194979
|
|
|
NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)
|
rs1475472364
|
|
|
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg)
|
rs878854008
|
|
|
NM_000465.4(BARD1):c.2286G>C (p.Trp762Cys)
|
|
|
|
NM_000465.4(BARD1):c.2290A>G (p.Ile764Val)
|
rs1553612026
|
|
|
NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn)
|
rs1574701742
|
|
|
NM_000465.4(BARD1):c.2295C>G (p.Asp765Glu)
|
|
|
|
NM_000465.4(BARD1):c.2296T>G (p.Cys766Gly)
|
|
|
|
NM_000465.4(BARD1):c.2297G>A (p.Cys766Tyr)
|
rs1692192234
|
|
|
NM_000465.4(BARD1):c.2299G>A (p.Val767Met)
|
rs1434753563
|
|
|
NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)
|
rs1434753563
|
|
|
NM_000465.4(BARD1):c.229G>C (p.Asp77His)
|
rs1574839978
|
|
|
NM_000465.4(BARD1):c.2303T>C (p.Met768Thr)
|
rs1553612018
|
|
|
NM_000465.4(BARD1):c.2304G>A (p.Met768Ile)
|
rs730881409
|
|
|
NM_000465.4(BARD1):c.2306C>G (p.Ser769Cys)
|
rs730881427
|
|
|
NM_000465.4(BARD1):c.2306C>T (p.Ser769Phe)
|
|
|
|
NM_000465.4(BARD1):c.2307del (p.Phe770fs)
|
rs1692191104
|
|
|
NM_000465.4(BARD1):c.2309T>G (p.Phe770Cys)
|
rs1692190854
|
|
|
NM_000465.4(BARD1):c.2311G>C (p.Glu771Gln)
|
|
|
|
NM_000465.4(BARD1):c.2313G>C (p.Glu771Asp)
|
|
|
|
NM_000465.4(BARD1):c.2317C>G (p.Leu773Val)
|
rs1241139157
|
|
|
NM_000465.4(BARD1):c.2317C>T (p.Leu773Phe)
|
rs1241139157
|
|
|
NM_000465.4(BARD1):c.2318T>C (p.Leu773Pro)
|
rs1559371391
|
|
|
NM_000465.4(BARD1):c.2321C>T (p.Pro774Leu)
|
rs1208217643
|
|
|
NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)
|
rs1553612005
|
|
|
NM_000465.4(BARD1):c.2326G>C (p.Asp776His)
|
rs2105986105
|
|
|
NM_000465.4(BARD1):c.2329A>C (p.Ser777Arg)
|
rs1553611997
|
|
|
NM_000465.4(BARD1):c.232T>C (p.Cys78Arg)
|
rs1695567620
|
|
|
NM_000465.4(BARD1):c.2330G>A (p.Ser777Asn)
|
|
|
|
NM_000465.4(BARD1):c.2330_*684del (p.Ser777fs)
|
rs1692152873
|
|
|
NM_000465.4(BARD1):c.2331C>G (p.Ser777Arg)
|
|
|
|
NM_000465.4(BARD1):c.2333G>A (p.Ter778=)
|
rs776958611
|
|
|
NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser)
|
rs776958611
|
|
|
NM_000465.4(BARD1):c.2334A>G (p.Ter778Trp)
|
rs1692188075
|
|
|
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser)
|
rs199780731
|
|
|
NM_000465.4(BARD1):c.235A>G (p.Ile79Val)
|
rs1436521124
|
|
|
NM_000465.4(BARD1):c.236T>C (p.Ile79Thr)
|
rs1695566939
|
|
|
NM_000465.4(BARD1):c.238G>A (p.Gly80Arg)
|
|
|
|
NM_000465.4(BARD1):c.23G>A (p.Arg8Lys)
|
rs1696475444
|
|
|
NM_000465.4(BARD1):c.242C>G (p.Thr81Ser)
|
rs1553624824
|
|
|
NM_000465.4(BARD1):c.244G>C (p.Gly82Arg)
|
rs1559437226
|
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
|
NM_000465.4(BARD1):c.248_262del (p.Cys83_Thr88delinsSer)
|
rs1695564417
|
|
|
NM_000465.4(BARD1):c.24G>T (p.Arg8Ser)
|
rs1696475305
|
|
|
NM_000465.4(BARD1):c.254T>C (p.Val85Ala)
|
rs1553624812
|
|
|
NM_000465.4(BARD1):c.257G>T (p.Cys86Phe)
|
rs1574839860
|
|
|
NM_000465.4(BARD1):c.262A>G (p.Thr88Ala)
|
|
|
|
NM_000465.4(BARD1):c.263C>T (p.Thr88Ile)
|
rs876659356
|
|
|
NM_000465.4(BARD1):c.266C>A (p.Pro89Gln)
|
|
|
|
NM_000465.4(BARD1):c.266C>G (p.Pro89Arg)
|
rs780241203
|
|
|
NM_000465.4(BARD1):c.269C>T (p.Ala90Val)
|
rs1574839783
|
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.271T>C (p.Trp91Arg)
|
rs1695563086
|
|
|
NM_000465.4(BARD1):c.273G>C (p.Trp91Cys)
|
|
|
|
NM_000465.4(BARD1):c.274A>G (p.Ile92Val)
|
rs750878896
|
|
|
NM_000465.4(BARD1):c.275T>C (p.Ile92Thr)
|
|
|
|
NM_000465.4(BARD1):c.276A>G (p.Ile92Met)
|
rs1553624797
|
|
|
NM_000465.4(BARD1):c.277C>A (p.Gln93Lys)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.277C>G (p.Gln93Glu)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.278A>C (p.Gln93Pro)
|
|
|
|
NM_000465.4(BARD1):c.27C>A (p.Asn9Lys)
|
rs1038616344
|
|
|
NM_000465.4(BARD1):c.27C>G (p.Asn9Lys)
|
rs1038616344
|
|
|
NM_000465.4(BARD1):c.282C>G (p.Asp94Glu)
|
rs1695561998
|
|
|
NM_000465.4(BARD1):c.282_291delinsT (p.Leu95_Ile97del)
|
rs1064795485
|
|
|
NM_000465.4(BARD1):c.283_291del (p.Leu95_Ile97del)
|
rs1695560646
|
|
|
NM_000465.4(BARD1):c.287A>G (p.Lys96Arg)
|
rs1695561580
|
|
|
NM_000465.4(BARD1):c.289A>G (p.Ile97Val)
|
rs1553624773
|
|
|
NM_000465.4(BARD1):c.289A>T (p.Ile97Leu)
|
rs1553624773
|
|
|
NM_000465.4(BARD1):c.290T>A (p.Ile97Lys)
|
rs878854009
|
|
|
NM_000465.4(BARD1):c.290T>G (p.Ile97Arg)
|
rs878854009
|
|
|
NM_000465.4(BARD1):c.292A>C (p.Asn98His)
|
rs1444375563
|
|
|
NM_000465.4(BARD1):c.293A>C (p.Asn98Thr)
|
rs763707275
|
|
|
NM_000465.4(BARD1):c.293A>G (p.Asn98Ser)
|
rs763707275
|
|
|
NM_000465.4(BARD1):c.294T>A (p.Asn98Lys)
|
rs201798163
|
|
|
NM_000465.4(BARD1):c.296G>A (p.Arg99Lys)
|
rs876659369
|
|
|
NM_000465.4(BARD1):c.296G>C (p.Arg99Thr)
|
rs876659369
|
|
|
NM_000465.4(BARD1):c.2T>C (p.Met1Thr)
|
rs1553628504
|
|
|
NM_000465.4(BARD1):c.301C>A (p.Leu101Met)
|
|
|
|
NM_000465.4(BARD1):c.304G>C (p.Asp102His)
|
|
|
|
NM_000465.4(BARD1):c.305A>G (p.Asp102Gly)
|
rs1559436950
|
|
|
NM_000465.4(BARD1):c.305A>T (p.Asp102Val)
|
|
|
|
NM_000465.4(BARD1):c.306C>G (p.Asp102Glu)
|
rs1695558437
|
|
|
NM_000465.4(BARD1):c.307A>G (p.Ser103Gly)
|
rs1553624745
|
|
|
NM_000465.4(BARD1):c.30_44del (p.Gln11_Arg15del)
|
rs587781297
|
|
|
NM_000465.4(BARD1):c.30_44dup (p.Gln11_Arg15dup)
|
rs587781297
|
|
|
NM_000465.4(BARD1):c.311T>C (p.Met104Thr)
|
rs876659204
|
|
|
NM_000465.4(BARD1):c.313A>C (p.Ile105Leu)
|
rs1574839522
|
|
|
NM_000465.4(BARD1):c.313A>G (p.Ile105Val)
|
|
|
|
NM_000465.4(BARD1):c.319C>A (p.Leu107Ile)
|
rs2106134624
|
|
|
NM_000465.4(BARD1):c.319C>T (p.Leu107Phe)
|
|
|
|
NM_000465.4(BARD1):c.322T>C (p.Cys108Arg)
|
rs1060501298
|
|
|
NM_000465.4(BARD1):c.322T>G (p.Cys108Gly)
|
rs1060501298
|
|
|
NM_000465.4(BARD1):c.325A>G (p.Ser109Gly)
|
rs764746353
|
|
|
NM_000465.4(BARD1):c.326G>A (p.Ser109Asn)
|
rs1695556373
|
|
|
NM_000465.4(BARD1):c.328A>G (p.Lys110Glu)
|
rs1574839460
|
|
|
NM_000465.4(BARD1):c.32A>C (p.Gln11Pro)
|
rs1696474319
|
|
|
NM_000465.4(BARD1):c.32A>T (p.Gln11Leu)
|
rs1696474319
|
|
|
NM_000465.4(BARD1):c.331C>G (p.Leu111Val)
|
rs1574839448
|
|
|
NM_000465.4(BARD1):c.334C>G (p.Arg112Gly)
|
|
|
|
NM_000465.4(BARD1):c.335G>C (p.Arg112Pro)
|
rs587781591
|
|
|
NM_000465.4(BARD1):c.337A>G (p.Asn113Asp)
|
rs1695555115
|
|
|
NM_000465.4(BARD1):c.339T>A (p.Asn113Lys)
|
rs2106134527
|
|
|
NM_000465.4(BARD1):c.341T>G (p.Leu114Trp)
|
|
|
|
NM_000465.4(BARD1):c.342G>T (p.Leu114Phe)
|
rs2106134524
|
|
|
NM_000465.4(BARD1):c.344T>C (p.Leu115Pro)
|
rs1440316765
|
|
|
NM_000465.4(BARD1):c.349G>A (p.Asp117Asn)
|
|
|
|
NM_000465.4(BARD1):c.34C>G (p.Pro12Ala)
|
rs1182316664
|
|
|
NM_000465.4(BARD1):c.34C>T (p.Pro12Ser)
|
|
|
|
NM_000465.4(BARD1):c.352A>C (p.Asn118His)
|
|
|
|
NM_000465.4(BARD1):c.355G>A (p.Glu119Lys)
|
rs1559436782
|
|
|
NM_000465.4(BARD1):c.358C>G (p.Leu120Val)
|
|
|
|
NM_000465.4(BARD1):c.359T>C (p.Leu120Pro)
|
rs1574839295
|
|
|
NM_000465.4(BARD1):c.35C>G (p.Pro12Arg)
|
rs786203647
|
|
|
NM_000465.4(BARD1):c.35C>T (p.Pro12Leu)
|
rs786203647
|
|
|
NM_000465.4(BARD1):c.363A>G (p.Ser121=)
|
rs1553624704
|
|
|
NM_000465.4(BARD1):c.363A>T (p.Ser121=)
|
rs1553624704
|
|
|
NM_000465.4(BARD1):c.364+2dup
|
rs2106134405
|
|
|
NM_000465.4(BARD1):c.364+5G>A
|
|
|
|
NM_000465.4(BARD1):c.364G>A (p.Asp122Asn)
|
rs1553624702
|
|
|
NM_000465.4(BARD1):c.365-100A>G
|
|
|
|
NM_000465.4(BARD1):c.365-111A>G
|
|
|
|
NM_000465.4(BARD1):c.365-2dup
|
rs1695036151
|
|
|
NM_000465.4(BARD1):c.365-6T>G
|
|
|
|
NM_000465.4(BARD1):c.365A>T (p.Asp122Val)
|
rs1553622732
|
|
|
NM_000465.4(BARD1):c.367T>A (p.Leu123Met)
|
rs1553622731
|
|
|
NM_000465.4(BARD1):c.368T>G (p.Leu123Trp)
|
rs879253930
|
|
|
NM_000465.4(BARD1):c.370A>G (p.Lys124Glu)
|
rs1559426408
|
|
|
NM_000465.4(BARD1):c.371A>G (p.Lys124Arg)
|
rs1574821845
|
|
|
NM_000465.4(BARD1):c.373G>A (p.Glu125Lys)
|
rs1553622720
|
|
|
NM_000465.4(BARD1):c.376G>A (p.Asp126Asn)
|
rs1695034849
|
|
|
NM_000465.4(BARD1):c.376G>T (p.Asp126Tyr)
|
rs1695034849
|
|
|
NM_000465.4(BARD1):c.377A>C (p.Asp126Ala)
|
rs1574821822
|
|
|
NM_000465.4(BARD1):c.377A>G (p.Asp126Gly)
|
rs1574821822
|
|
|
NM_000465.4(BARD1):c.379A>G (p.Lys127Glu)
|
rs1574821802
|
|
|
NM_000465.4(BARD1):c.385A>G (p.Arg129Gly)
|
rs1553622711
|
|
|
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.389A>G (p.Lys130Arg)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.38G>C (p.Arg13Thr)
|
rs587781713
|
|
|
NM_000465.4(BARD1):c.390A>C (p.Lys130Asn)
|
rs554652893
|
|
|
NM_000465.4(BARD1):c.391A>T (p.Ser131Cys)
|
rs1387450000
|
|
|
NM_000465.4(BARD1):c.394T>G (p.Leu132Val)
|
|
|
|
NM_000465.4(BARD1):c.39G>C (p.Arg13Ser)
|
|
|
|
NM_000465.4(BARD1):c.3G>A (p.Met1Ile)
|
rs587780031
|
|
|
NM_000465.4(BARD1):c.400A>C (p.Asn134His)
|
rs876660852
|
|
|
NM_000465.4(BARD1):c.401A>C (p.Asn134Thr)
|
rs1559426297
|
|
|
NM_000465.4(BARD1):c.401A>G (p.Asn134Ser)
|
rs1559426297
|
|
|
NM_000465.4(BARD1):c.403G>A (p.Asp135Asn)
|
rs747455698
|
|
|
NM_000465.4(BARD1):c.403_404delinsTT (p.Asp135Phe)
|
|
|
|
NM_000465.4(BARD1):c.404A>G (p.Asp135Gly)
|
rs778256124
|
|
|
NM_000465.4(BARD1):c.406G>T (p.Ala136Ser)
|
rs1261925788
|
|
|
NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del)
|
rs1060501278
|
|
|
NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr)
|
|
|
|
NM_000465.4(BARD1):c.421A>C (p.Asn141His)
|
|
|
|
NM_000465.4(BARD1):c.422A>G (p.Asn141Ser)
|
|
|
|
NM_000465.4(BARD1):c.425C>T (p.Ser142Leu)
|
rs1553622692
|
|
|
NM_000465.4(BARD1):c.427A>T (p.Ile143Phe)
|
rs1060501289
|
|
|
NM_000465.4(BARD1):c.428T>C (p.Ile143Thr)
|
|
|
|
NM_000465.4(BARD1):c.429T>G (p.Ile143Met)
|
rs1695029571
|
|
|
NM_000465.4(BARD1):c.42C>G (p.Ile14Met)
|
rs746266678
|
|
|
NM_000465.4(BARD1):c.432A>T (p.Lys144Asn)
|
rs1695029464
|
|
|
NM_000465.4(BARD1):c.433A>G (p.Met145Val)
|
rs1553622685
|
|
|
NM_000465.4(BARD1):c.435G>A (p.Met145Ile)
|
rs1574821505
|
|
|
NM_000465.4(BARD1):c.437G>T (p.Trp146Leu)
|
rs1695029110
|
|
|
NM_000465.4(BARD1):c.439T>C (p.Phe147Leu)
|
rs876658313
|
|
|
NM_000465.4(BARD1):c.439T>G (p.Phe147Val)
|
|
|
|
NM_000465.4(BARD1):c.43C>A (p.Arg15Ser)
|
rs1553628470
|
|
|
NM_000465.4(BARD1):c.43C>T (p.Arg15Cys)
|
rs1553628470
|
|
|
NM_000465.4(BARD1):c.442A>G (p.Ser148Gly)
|
|
|
|
NM_000465.4(BARD1):c.445C>T (p.Pro149Ser)
|
|
|
|
NM_000465.4(BARD1):c.448C>G (p.Arg150Gly)
|
rs730881411
|
|
|
NM_000465.4(BARD1):c.449G>C (p.Arg150Pro)
|
rs730881412
|
|
|
NM_000465.4(BARD1):c.449G>T (p.Arg150Leu)
|
rs730881412
|
|
|
NM_000465.4(BARD1):c.44G>C (p.Arg15Pro)
|
rs545107676
|
|
|
NM_000465.4(BARD1):c.453T>A (p.Ser151Arg)
|
|
|
|
NM_000465.4(BARD1):c.455A>C (p.Lys152Thr)
|
rs1064794194
|
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
|
NM_000465.4(BARD1):c.462_470del (p.Arg155_Val157del)
|
rs1695026394
|
|
|
NM_000465.4(BARD1):c.463A>C (p.Arg155=)
|
|
|
|
NM_000465.4(BARD1):c.464G>A (p.Arg155Lys)
|
rs1574821370
|
|
|
NM_000465.4(BARD1):c.466T>A (p.Tyr156Asn)
|
rs1172089451
|
|
|
NM_000465.4(BARD1):c.466T>C (p.Tyr156His)
|
rs1172089451
|
|
|
NM_000465.4(BARD1):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_000465.4(BARD1):c.469G>A (p.Val157Ile)
|
rs1553622662
|
|
|
NM_000465.4(BARD1):c.471T>A (p.Val157=)
|
|
|
|
NM_000465.4(BARD1):c.475A>C (p.Ser159Arg)
|
rs2106112241
|
|
|
NM_000465.4(BARD1):c.476G>T (p.Ser159Ile)
|
rs786203226
|
|
|
NM_000465.4(BARD1):c.478A>G (p.Lys160Glu)
|
rs1695025844
|
|
|
NM_000465.4(BARD1):c.47C>G (p.Ser16Cys)
|
rs1326565823
|
|
|
NM_000465.4(BARD1):c.485C>T (p.Ser162Leu)
|
rs755693106
|
|
|
NM_000465.4(BARD1):c.491A>C (p.Gln164Pro)
|
rs980413835
|
|
|
NM_000465.4(BARD1):c.493A>T (p.Thr165Ser)
|
rs876658147
|
|
|
NM_000465.4(BARD1):c.49G>C (p.Gly17Arg)
|
rs746495820
|
|
|
NM_000465.4(BARD1):c.49G>T (p.Gly17Trp)
|
|
|
|
NM_000465.4(BARD1):c.4C>G (p.Pro2Ala)
|
rs1574870196
|
|
|
NM_000465.4(BARD1):c.4C>T (p.Pro2Ser)
|
rs1574870196
|
|
|
NM_000465.4(BARD1):c.503C>A (p.Ala168Glu)
|
rs982408430
|
|
|
NM_000465.4(BARD1):c.505A>G (p.Ile169Val)
|
rs765494437
|
|
|
NM_000465.4(BARD1):c.506T>A (p.Ile169Lys)
|
rs1553622645
|
|
|
NM_000465.4(BARD1):c.506T>G (p.Ile169Arg)
|
rs1553622645
|
|
|
NM_000465.4(BARD1):c.508A>G (p.Lys170Glu)
|
rs2106112066
|
|
|
NM_000465.4(BARD1):c.50G>T (p.Gly17Val)
|
rs1574869785
|
|
|
NM_000465.4(BARD1):c.511A>G (p.Lys171Glu)
|
rs1559426015
|
|
|
NM_000465.4(BARD1):c.515A>T (p.Asp172Val)
|
rs1695022402
|
|
|
NM_000465.4(BARD1):c.517G>A (p.Ala173Thr)
|
rs1553622642
|
|
|
NM_000465.4(BARD1):c.518C>G (p.Ala173Gly)
|
rs1316339721
|
|
|
NM_000465.4(BARD1):c.518C>T (p.Ala173Val)
|
rs1316339721
|
|
|
NM_000465.4(BARD1):c.520A>G (p.Ser174Gly)
|
|
|
|
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)
|
rs1277839212
|
|
|
NM_000465.4(BARD1):c.522T>G (p.Ser174Arg)
|
rs1060504190
|
|
|
NM_000465.4(BARD1):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_000465.4(BARD1):c.527A>C (p.Gln176Pro)
|
rs1559425948
|
|
|
NM_000465.4(BARD1):c.528G>C (p.Gln176His)
|
|
|
|
NM_000465.4(BARD1):c.530A>C (p.Gln177Pro)
|
|
|
|
NM_000465.4(BARD1):c.533A>G (p.Asp178Gly)
|
|
|
|
NM_000465.4(BARD1):c.536C>T (p.Ser179Leu)
|
rs2106111914
|
|
|
NM_000465.4(BARD1):c.538T>C (p.Tyr180His)
|
rs1060501311
|
|
|
NM_000465.4(BARD1):c.539A>G (p.Tyr180Cys)
|
rs1553622631
|
|
|
NM_000465.4(BARD1):c.53A>G (p.Asn18Ser)
|
rs1064793727
|
|
|
NM_000465.4(BARD1):c.53A>T (p.Asn18Ile)
|
rs1064793727
|
|
|
NM_000465.4(BARD1):c.541G>A (p.Glu181Lys)
|
rs1695019560
|
|
|
NM_000465.4(BARD1):c.547G>A (p.Val183Ile)
|
rs1695018814
|
|
|
NM_000465.4(BARD1):c.547G>T (p.Val183Phe)
|
rs1695018814
|
|
|
NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)
|
rs587780032
|
|
|
NM_000465.4(BARD1):c.550T>G (p.Ser184Ala)
|
|
|
|
NM_000465.4(BARD1):c.551C>G (p.Ser184Cys)
|
rs184660818
|
|
|
NM_000465.4(BARD1):c.551C>T (p.Ser184Phe)
|
rs184660818
|
|
|
NM_000465.4(BARD1):c.554C>A (p.Pro185Gln)
|
|
|
|
NM_000465.4(BARD1):c.557G>A (p.Ser186Asn)
|
rs1553622620
|
|
|
NM_000465.4(BARD1):c.557G>T (p.Ser186Ile)
|
rs1553622620
|
|
|
NM_000465.4(BARD1):c.559C>T (p.Pro187Ser)
|
rs1574820873
|
|
|
NM_000465.4(BARD1):c.559CCT[1] (p.Pro188del)
|
rs1553622614
|
|
|
NM_000465.4(BARD1):c.55G>A (p.Glu19Lys)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.562C>A (p.Pro188Thr)
|
rs373249008
|
|
|
NM_000465.4(BARD1):c.562C>T (p.Pro188Ser)
|
rs373249008
|
|
|
NM_000465.4(BARD1):c.565G>A (p.Ala189Thr)
|
rs786202110
|
|
|
NM_000465.4(BARD1):c.566C>A (p.Ala189Glu)
|
|
|
|
NM_000465.4(BARD1):c.566C>T (p.Ala189Val)
|
rs864622686
|
|
|
NM_000465.4(BARD1):c.568G>C (p.Asp190His)
|
rs369561166
|
|
|
NM_000465.4(BARD1):c.568G>T (p.Asp190Tyr)
|
rs369561166
|
|
|
NM_000465.4(BARD1):c.569A>G (p.Asp190Gly)
|
rs1559425762
|
|
|
NM_000465.4(BARD1):c.569A>T (p.Asp190Val)
|
rs1559425762
|
|
|
NM_000465.4(BARD1):c.572T>C (p.Val191Ala)
|
rs1433869128
|
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
|
NM_000465.4(BARD1):c.575C>G (p.Ser192Cys)
|
rs587782482
|
|
|
NM_000465.4(BARD1):c.575C>T (p.Ser192Phe)
|
|
|
|
NM_000465.4(BARD1):c.577G>A (p.Glu193Lys)
|
rs1695015277
|
|
|
NM_000465.4(BARD1):c.57G>C (p.Glu19Asp)
|
rs730881406
|
|
|
NM_000465.4(BARD1):c.57G>T (p.Glu19Asp)
|
rs730881406
|
|
|
NM_000465.4(BARD1):c.583G>C (p.Ala195Pro)
|
|
|
|
NM_000465.4(BARD1):c.587A>G (p.Lys196Arg)
|
rs587781520
|
|
|
NM_000465.4(BARD1):c.587A>T (p.Lys196Ile)
|
|
|
|
NM_000465.4(BARD1):c.588A>C (p.Lys196Asn)
|
rs2106111611
|
|
|
NM_000465.4(BARD1):c.58C>G (p.Pro20Ala)
|
rs1326795982
|
|
|
NM_000465.4(BARD1):c.58C>T (p.Pro20Ser)
|
rs1326795982
|
|
|
NM_000465.4(BARD1):c.592G>A (p.Ala198Thr)
|
rs748834249
|
|
|
NM_000465.4(BARD1):c.592G>C (p.Ala198Pro)
|
rs748834249
|
|
|
NM_000465.4(BARD1):c.595T>C (p.Ser199Pro)
|
rs1553622597
|
|
|
NM_000465.4(BARD1):c.596C>T (p.Ser199Phe)
|
rs1695013323
|
|
|
NM_000465.4(BARD1):c.598G>A (p.Ala200Thr)
|
rs1695013070
|
|
|
NM_000465.4(BARD1):c.598G>C (p.Ala200Pro)
|
|
|
|
NM_000465.4(BARD1):c.59C>G (p.Pro20Arg)
|
rs753686197
|
|
|
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)
|
rs753686197
|
|
|
NM_000465.4(BARD1):c.5C>T (p.Pro2Leu)
|
rs1574870182
|
|
|
NM_000465.4(BARD1):c.601A>G (p.Arg201Gly)
|
rs786203051
|
|
|
NM_000465.4(BARD1):c.602G>T (p.Arg201Ile)
|
rs1695012208
|
|
|
NM_000465.4(BARD1):c.605C>A (p.Ser202Tyr)
|
|
|
|
NM_000465.4(BARD1):c.605C>T (p.Ser202Phe)
|
rs1018602332
|
|
|
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg)
|
rs730881415
|
|
|
NM_000465.4(BARD1):c.608G>C (p.Gly203Ala)
|
rs1323808192
|
|
|
NM_000465.4(BARD1):c.611A>G (p.Lys204Arg)
|
|
|
|
NM_000465.4(BARD1):c.613A>C (p.Lys205Gln)
|
rs1329441113
|
|
|
NM_000465.4(BARD1):c.614A>T (p.Lys205Met)
|
rs587782437
|
|
|
NM_000465.4(BARD1):c.616C>A (p.Gln206Lys)
|
rs1453894904
|
|
|
NM_000465.4(BARD1):c.617A>C (p.Gln206Pro)
|
rs760718143
|
|
|
NM_000465.4(BARD1):c.617A>G (p.Gln206Arg)
|
rs760718143
|
|
|
NM_000465.4(BARD1):c.619A>C (p.Lys207Gln)
|
rs1156792714
|
|
|
NM_000465.4(BARD1):c.61C>A (p.Arg21Ser)
|
rs864622206
|
|
|
NM_000465.4(BARD1):c.61C>T (p.Arg21Cys)
|
rs864622206
|
|
|
NM_000465.4(BARD1):c.622A>G (p.Lys208Glu)
|
rs1559425550
|
|
|
NM_000465.4(BARD1):c.623A>G (p.Lys208Arg)
|
|
|
|
NM_000465.4(BARD1):c.624G>T (p.Lys208Asn)
|
rs1559425523
|
|
|
NM_000465.4(BARD1):c.625A>C (p.Lys209Gln)
|
rs1559425519
|
|
|
NM_000465.4(BARD1):c.629C>A (p.Thr210Asn)
|
rs1695008080
|
|
|
NM_000465.4(BARD1):c.629C>T (p.Thr210Ile)
|
rs1695008080
|
|
|
NM_000465.4(BARD1):c.62G>C (p.Arg21Pro)
|
rs1696468454
|
|
|
NM_000465.4(BARD1):c.634_635delinsCT (p.Ala212Leu)
|
|
|
|
NM_000465.4(BARD1):c.635C>T (p.Ala212Val)
|
rs1400642945
|
|
|
NM_000465.4(BARD1):c.637G>A (p.Glu213Lys)
|
rs1553622554
|
|
|
NM_000465.4(BARD1):c.638A>C (p.Glu213Ala)
|
|
|
|
NM_000465.4(BARD1):c.638A>T (p.Glu213Val)
|
|
|
|
NM_000465.4(BARD1):c.640A>G (p.Ile214Val)
|
rs1351507623
|
|
|
NM_000465.4(BARD1):c.641T>G (p.Ile214Ser)
|
rs1695006868
|
|
|
NM_000465.4(BARD1):c.643A>G (p.Asn215Asp)
|
|
|
|
NM_000465.4(BARD1):c.643A>T (p.Asn215Tyr)
|
rs864622353
|
|
|
NM_000465.4(BARD1):c.646C>A (p.Gln216Lys)
|
|
|
|
NM_000465.4(BARD1):c.653G>T (p.Trp218Leu)
|
rs1553622534
|
|
|
NM_000465.4(BARD1):c.654G>C (p.Trp218Cys)
|
rs1553622530
|
|
|
NM_000465.4(BARD1):c.655A>G (p.Asn219Asp)
|
rs1695005574
|
|
|
NM_000465.4(BARD1):c.657T>A (p.Asn219Lys)
|
|
|
|
NM_000465.4(BARD1):c.661G>C (p.Glu221Gln)
|
rs1695005056
|
|
|
NM_000465.4(BARD1):c.664G>A (p.Ala222Thr)
|
rs1574820102
|
|
|
NM_000465.4(BARD1):c.667G>C (p.Glu223Gln)
|
rs1695004426
|
|
|
NM_000465.4(BARD1):c.669A>T (p.Glu223Asp)
|
rs786201963
|
|
|
NM_000465.4(BARD1):c.673G>A (p.Glu225Lys)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.673G>C (p.Glu225Gln)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.674A>C (p.Glu225Ala)
|
rs769611057
|
|
|
NM_000465.4(BARD1):c.674A>T (p.Glu225Val)
|
|
|
|
NM_000465.4(BARD1):c.675A>T (p.Glu225Asp)
|
rs1559425348
|
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
|
NM_000465.4(BARD1):c.677A>G (p.Asp226Gly)
|
rs745368624
|
|
|
NM_000465.4(BARD1):c.679G>A (p.Gly227Ser)
|
rs1695002987
|
|
|
NM_000465.4(BARD1):c.679G>C (p.Gly227Arg)
|
|
|
|
NM_000465.4(BARD1):c.680G>A (p.Gly227Asp)
|
rs1553622515
|
|
|
NM_000465.4(BARD1):c.683A>T (p.Glu228Val)
|
rs2106110998
|
|
|
NM_000465.4(BARD1):c.684A>T (p.Glu228Asp)
|
rs780627045
|
|
|
NM_000465.4(BARD1):c.687_719del (p.Phe229_Val240delinsLeu)
|
|
|
|
NM_000465.4(BARD1):c.688G>A (p.Asp230Asn)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.688G>C (p.Asp230His)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.688G>T (p.Asp230Tyr)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)
|
rs751384676
|
|
|
NM_000465.4(BARD1):c.68C>T (p.Ala23Val)
|
rs1696467337
|
|
|
NM_000465.4(BARD1):c.694A>C (p.Lys232Gln)
|
rs1695001554
|
|
|
NM_000465.4(BARD1):c.694A>G (p.Lys232Glu)
|
rs1695001554
|
|
|
NM_000465.4(BARD1):c.696A>C (p.Lys232Asn)
|
|
|
|
NM_000465.4(BARD1):c.699G>T (p.Glu233Asp)
|
|
|
|
NM_000465.4(BARD1):c.700G>A (p.Glu234Lys)
|
|
|
|
NM_000465.4(BARD1):c.700G>C (p.Glu234Gln)
|
rs905491643
|
|
|
NM_000465.4(BARD1):c.701A>T (p.Glu234Val)
|
|
|
|
NM_000465.4(BARD1):c.706A>G (p.Lys236Glu)
|
rs1695000597
|
|
|
NM_000465.4(BARD1):c.707A>G (p.Lys236Arg)
|
rs1488654033
|
|
|
NM_000465.4(BARD1):c.707A>T (p.Lys236Met)
|
rs1488654033
|
|
|
NM_000465.4(BARD1):c.718G>A (p.Val240Ile)
|
rs2106110857
|
|
|
NM_000465.4(BARD1):c.718G>C (p.Val240Leu)
|
|
|
|
NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)
|
rs863224674
|
|
|
NM_000465.4(BARD1):c.721T>C (p.Ser241Pro)
|
rs1553622496
|
|
|
NM_000465.4(BARD1):c.724T>C (p.Phe242Leu)
|
rs745837404
|
|
|
NM_000465.4(BARD1):c.725T>C (p.Phe242Ser)
|
|
|
|
NM_000465.4(BARD1):c.726C>G (p.Phe242Leu)
|
rs876659277
|
|
|
NM_000465.4(BARD1):c.728G>A (p.Cys243Tyr)
|
rs767432527
|
|
|
NM_000465.4(BARD1):c.730A>G (p.Ser244Gly)
|
rs2106110774
|
|
|
NM_000465.4(BARD1):c.732C>G (p.Ser244Arg)
|
|
|
|
NM_000465.4(BARD1):c.736C>A (p.Pro246Thr)
|
rs927730167
|
|
|
NM_000465.4(BARD1):c.736C>T (p.Pro246Ser)
|
rs927730167
|
|
|
NM_000465.4(BARD1):c.737C>T (p.Pro246Leu)
|
rs151325889
|
|
|
NM_000465.4(BARD1):c.73G>A (p.Ala25Thr)
|
rs751646468
|
|
|
NM_000465.4(BARD1):c.740C>G (p.Ser247Cys)
|
rs1694997334
|
|
|
NM_000465.4(BARD1):c.742G>A (p.Val248Ile)
|
rs1574819641
|
|
|
NM_000465.4(BARD1):c.743T>A (p.Val248Asp)
|
|
|
|
NM_000465.4(BARD1):c.745A>G (p.Ile249Val)
|
rs745462573
|
|
|
NM_000465.4(BARD1):c.748T>C (p.Ser250Pro)
|
rs570022823
|
|
|
NM_000465.4(BARD1):c.748T>G (p.Ser250Ala)
|
rs570022823
|
|
|
NM_000465.4(BARD1):c.749C>A (p.Ser250Tyr)
|
rs1694996136
|
|
|
NM_000465.4(BARD1):c.74C>T (p.Ala25Val)
|
rs764023867
|
|
|
NM_000465.4(BARD1):c.751A>G (p.Ser251Gly)
|
|
|
|
NM_000465.4(BARD1):c.752G>A (p.Ser251Asn)
|
rs1553622477
|
|
|
NM_000465.4(BARD1):c.752G>C (p.Ser251Thr)
|
|
|
|
NM_000465.4(BARD1):c.752G>T (p.Ser251Ile)
|
rs1553622477
|
|
|
NM_000465.4(BARD1):c.754C>T (p.Pro252Ser)
|
rs758368819
|
|
|
NM_000465.4(BARD1):c.758A>C (p.Gln253Pro)
|
rs1694995045
|
|
|
NM_000465.4(BARD1):c.760A>C (p.Ile254Leu)
|
rs879253984
|
|
|
NM_000465.4(BARD1):c.761T>A (p.Ile254Lys)
|
rs1395313064
|
|
|
NM_000465.4(BARD1):c.763A>G (p.Asn255Asp)
|
rs1694994506
|
|
|
NM_000465.4(BARD1):c.764A>C (p.Asn255Thr)
|
rs138904906
|
|
|
NM_000465.4(BARD1):c.765T>A (p.Asn255Lys)
|
rs754775017
|
|
|
NM_000465.4(BARD1):c.766G>C (p.Gly256Arg)
|
rs1553622462
|
|
|
NM_000465.4(BARD1):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_000465.4(BARD1):c.769G>A (p.Glu257Lys)
|
rs587782673
|
|
|
NM_000465.4(BARD1):c.769G>C (p.Glu257Gln)
|
|
|
|
NM_000465.4(BARD1):c.76A>C (p.Met26Leu)
|
rs587781570
|
|
|
NM_000465.4(BARD1):c.76A>T (p.Met26Leu)
|
rs587781570
|
|
|
NM_000465.4(BARD1):c.775G>A (p.Asp259Asn)
|
rs1195999928
|
|
|
NM_000465.4(BARD1):c.776A>T (p.Asp259Val)
|
rs587780036
|
|
|
NM_000465.4(BARD1):c.77T>C (p.Met26Thr)
|
rs759957629
|
|
|
NM_000465.4(BARD1):c.782T>C (p.Leu261Pro)
|
rs1275950974
|
|
|
NM_000465.4(BARD1):c.783_788del (p.Ala262_Ser263del)
|
rs1574819364
|
|
|
NM_000465.4(BARD1):c.784G>A (p.Ala262Thr)
|
|
|
|
NM_000465.4(BARD1):c.785C>T (p.Ala262Val)
|
rs1553622444
|
|
|
NM_000465.4(BARD1):c.787A>G (p.Ser263Gly)
|
|
|
|
NM_000465.4(BARD1):c.787A>T (p.Ser263Cys)
|
rs1559424979
|
|
|
NM_000465.4(BARD1):c.788G>A (p.Ser263Asn)
|
rs1553622443
|
|
|
NM_000465.4(BARD1):c.789T>A (p.Ser263Arg)
|
|
|
|
NM_000465.4(BARD1):c.793T>A (p.Ser265Thr)
|
rs751701338
|
|
|
NM_000465.4(BARD1):c.793T>C (p.Ser265Pro)
|
rs751701338
|
|
|
NM_000465.4(BARD1):c.794C>G (p.Ser265Cys)
|
|
|
|
NM_000465.4(BARD1):c.794C>T (p.Ser265Phe)
|
rs1434287864
|
|
|
NM_000465.4(BARD1):c.796T>A (p.Leu266Met)
|
|
|
|
NM_000465.4(BARD1):c.798G>C (p.Leu266Phe)
|
rs1553622436
|
|
|
NM_000465.4(BARD1):c.799A>T (p.Thr267Ser)
|
|
|
|
NM_000465.4(BARD1):c.7G>A (p.Asp3Asn)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7G>C (p.Asp3His)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7G>T (p.Asp3Tyr)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7_21del (p.Asp3_Pro7del)
|
|
|
|
NM_000465.4(BARD1):c.800C>T (p.Thr267Ile)
|
rs1338972046
|
|
|
NM_000465.4(BARD1):c.803A>G (p.Glu268Gly)
|
rs910515761
|
|
|
NM_000465.4(BARD1):c.80A>C (p.Glu27Ala)
|
rs989352819
|
|
|
NM_000465.4(BARD1):c.810A>C (p.Glu270Asp)
|
rs1553622429
|
|
|
NM_000465.4(BARD1):c.812G>C (p.Cys271Ser)
|
|
|
|
NM_000465.4(BARD1):c.815T>C (p.Phe272Ser)
|
|
|
|
NM_000465.4(BARD1):c.815T>G (p.Phe272Cys)
|
rs1060501296
|
|
|
NM_000465.4(BARD1):c.816T>A (p.Phe272Leu)
|
|
|
|
NM_000465.4(BARD1):c.817G>A (p.Gly273Arg)
|
|
|
|
NM_000465.4(BARD1):c.819A>T (p.Gly273=)
|
rs1694990515
|
|
|
NM_000465.4(BARD1):c.820A>G (p.Ser274Gly)
|
rs1553622422
|
|
|
NM_000465.4(BARD1):c.823T>A (p.Leu275Ile)
|
rs776157713
|
|
|
NM_000465.4(BARD1):c.824T>C (p.Leu275Ser)
|
rs765629130
|
|
|
NM_000465.4(BARD1):c.826A>G (p.Thr276Ala)
|
rs876659291
|
|
|
NM_000465.4(BARD1):c.827C>G (p.Thr276Ser)
|
rs1694989668
|
|
|
NM_000465.4(BARD1):c.82C>G (p.Pro28Ala)
|
rs770702450
|
|
|
NM_000465.4(BARD1):c.833T>G (p.Val278Gly)
|
rs1440649518
|
|
|
NM_000465.4(BARD1):c.836C>G (p.Ser279Cys)
|
|
|
|
NM_000465.4(BARD1):c.839T>C (p.Leu280Ser)
|
rs1574819068
|
|
|
NM_000465.4(BARD1):c.843_845dup (p.Leu282_Ala283insLeu)
|
|
|
|
NM_000465.4(BARD1):c.844T>A (p.Leu282Met)
|
rs1574819001
|
|
|
NM_000465.4(BARD1):c.847G>A (p.Ala283Thr)
|
rs923851371
|
|
|
NM_000465.4(BARD1):c.847G>C (p.Ala283Pro)
|
rs923851371
|
|
|
NM_000465.4(BARD1):c.848C>T (p.Ala283Val)
|
rs1694987682
|
|
|
NM_000465.4(BARD1):c.850G>A (p.Glu284Lys)
|
rs1694987566
|
|
|
NM_000465.4(BARD1):c.850G>C (p.Glu284Gln)
|
|
|
|
NM_000465.4(BARD1):c.853C>G (p.Gln285Glu)
|
rs746470339
|
|
|
NM_000465.4(BARD1):c.854A>G (p.Gln285Arg)
|
rs1694987314
|
|
|
NM_000465.4(BARD1):c.855A>C (p.Gln285His)
|
|
|
|
NM_000465.4(BARD1):c.855A>G (p.Gln285=)
|
rs1694987168
|
|
|
NM_000465.4(BARD1):c.855A>T (p.Gln285His)
|
rs1694987168
|
|
|
NM_000465.4(BARD1):c.858A>G (p.Ile286Met)
|
rs772845446
|
|
|
NM_000465.4(BARD1):c.859G>A (p.Glu287Lys)
|
rs1694986734
|
|
|
NM_000465.4(BARD1):c.85G>A (p.Asp29Asn)
|
rs1553628425
|
|
|
NM_000465.4(BARD1):c.860A>T (p.Glu287Val)
|
rs1197692311
|
|
|
NM_000465.4(BARD1):c.865C>G (p.Pro289Ala)
|
rs1553622386
|
|
|
NM_000465.4(BARD1):c.865C>T (p.Pro289Ser)
|
rs1553622386
|
|
|
NM_000465.4(BARD1):c.868G>A (p.Asp290Asn)
|
rs1574818847
|
|
|
NM_000465.4(BARD1):c.869A>G (p.Asp290Gly)
|
rs1553622382
|
|
|
NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.86A>T (p.Asp29Val)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.872C>G (p.Thr291Ser)
|
rs2106110019
|
|
|
NM_000465.4(BARD1):c.876G>C (p.Lys292Asn)
|
rs1449269582
|
|
|
NM_000465.4(BARD1):c.878G>A (p.Ser293Asn)
|
rs1574818784
|
|
|
NM_000465.4(BARD1):c.880A>G (p.Arg294Gly)
|
rs1553622373
|
|
|
NM_000465.4(BARD1):c.884A>G (p.Asn295Ser)
|
rs1448645093
|
|
|
NM_000465.4(BARD1):c.885T>G (p.Asn295Lys)
|
rs1433418104
|
|
|
NM_000465.4(BARD1):c.886G>C (p.Glu296Gln)
|
rs1553622368
|
|
|
NM_000465.4(BARD1):c.888AGT[1] (p.Val298del)
|
rs1694983540
|
|
|
NM_000465.4(BARD1):c.889G>C (p.Val297Leu)
|
rs754720101
|
|
|
NM_000465.4(BARD1):c.88G>T (p.Gly30Cys)
|
rs1696463008
|
|
|
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)
|
rs1694983227
|
|
|
NM_000465.4(BARD1):c.896C>G (p.Thr299Ser)
|
rs141934748
|
|
|
NM_000465.4(BARD1):c.896C>T (p.Thr299Ile)
|
|
|
|
NM_000465.4(BARD1):c.898C>A (p.Pro300Thr)
|
rs1064793050
|
|
|
NM_000465.4(BARD1):c.898C>G (p.Pro300Ala)
|
rs1064793050
|
|
|
NM_000465.4(BARD1):c.8A>T (p.Asp3Val)
|
|
|
|
NM_000465.4(BARD1):c.902A>G (p.Glu301Gly)
|
rs2106109867
|
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
|
NM_000465.4(BARD1):c.905A>C (p.Lys302Thr)
|
rs1553622357
|
|
|
NM_000465.4(BARD1):c.906G>C (p.Lys302Asn)
|
rs1412871752
|
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
|
NM_000465.4(BARD1):c.919T>C (p.Tyr307His)
|
rs1694981227
|
|
|
NM_000465.4(BARD1):c.91C>G (p.Arg31Gly)
|
rs1064795053
|
|
|
NM_000465.4(BARD1):c.91C>T (p.Arg31Cys)
|
rs1064795053
|
|
|
NM_000465.4(BARD1):c.920A>G (p.Tyr307Cys)
|
rs764215274
|
|
|
NM_000465.4(BARD1):c.920A>T (p.Tyr307Phe)
|
rs764215274
|
|
|
NM_000465.4(BARD1):c.925A>T (p.Thr309Ser)
|
rs2106109742
|
|
|
NM_000465.4(BARD1):c.926C>A (p.Thr309Lys)
|
rs1236791029
|
|
|
NM_000465.4(BARD1):c.928T>C (p.Ser310Pro)
|
|
|
|
NM_000465.4(BARD1):c.931A>G (p.Lys311Glu)
|
rs1553622337
|
|
|
NM_000465.4(BARD1):c.932A>G (p.Lys311Arg)
|
|
|
|
NM_000465.4(BARD1):c.934A>C (p.Lys312Gln)
|
rs1060501291
|
|
|
NM_000465.4(BARD1):c.935A>C (p.Lys312Thr)
|
|
|
|
NM_000465.4(BARD1):c.938C>A (p.Ser313Tyr)
|
rs202118376
|
|
|
NM_000465.4(BARD1):c.938C>G (p.Ser313Cys)
|
rs202118376
|
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
|
NM_000465.4(BARD1):c.941T>C (p.Leu314Ser)
|
rs199857391
|
|
|
NM_000465.4(BARD1):c.949G>A (p.Glu317Lys)
|
rs1559424451
|
|
|
NM_000465.4(BARD1):c.949G>C (p.Glu317Gln)
|
rs1559424451
|
|
|
NM_000465.4(BARD1):c.94G>A (p.Gly32Ser)
|
rs1224914625
|
|
|
NM_000465.4(BARD1):c.94G>C (p.Gly32Arg)
|
rs1224914625
|
|
|
NM_000465.4(BARD1):c.94G>T (p.Gly32Cys)
|
|
|
|
NM_000465.4(BARD1):c.950A>T (p.Glu317Val)
|
|
|
|
NM_000465.4(BARD1):c.952A>G (p.Asn318Asp)
|
rs565582076
|
|
|
NM_000465.4(BARD1):c.952A>T (p.Asn318Tyr)
|
rs565582076
|
|
|
NM_000465.4(BARD1):c.953A>G (p.Asn318Ser)
|
rs1553622328
|
|
|
NM_000465.4(BARD1):c.954T>G (p.Asn318Lys)
|
rs771502065
|
|
|
NM_000465.4(BARD1):c.955A>G (p.Asn319Asp)
|
|
|
|
NM_000465.4(BARD1):c.958G>A (p.Gly320Arg)
|
rs878854017
|
|
|
NM_000465.4(BARD1):c.95_115del (p.Gly32_Arg38del)
|
rs1553628381
|
|
|
NM_000465.4(BARD1):c.964C>G (p.Arg322Gly)
|
rs786203129
|
|
|
NM_000465.4(BARD1):c.968G>A (p.Gly323Asp)
|
rs2106109498
|
|
|
NM_000465.4(BARD1):c.971A>C (p.His324Pro)
|
rs1445844416
|
|
|
NM_000465.4(BARD1):c.971A>G (p.His324Arg)
|
rs1445844416
|
|
|
NM_000465.4(BARD1):c.973C>G (p.His325Asp)
|
rs1358719583
|
|
|
NM_000465.4(BARD1):c.973C>T (p.His325Tyr)
|
|
|
|
NM_000465.4(BARD1):c.974A>G (p.His325Arg)
|
rs768621478
|
|
|
NM_000465.4(BARD1):c.975C>A (p.His325Gln)
|
rs876660202
|
|
|
NM_000465.4(BARD1):c.976A>C (p.Asn326His)
|
rs587780038
|
|
|
NM_000465.4(BARD1):c.976A>T (p.Asn326Tyr)
|
rs587780038
|
|
|
NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)
|
rs1553622318
|
|
|
NM_000465.4(BARD1):c.978T>G (p.Asn326Lys)
|
rs1553622318
|
|
|
NM_000465.4(BARD1):c.97G>T (p.Ala33Ser)
|
rs587782465
|
|
|
NM_000465.4(BARD1):c.982C>T (p.Leu328Phe)
|
rs1378818781
|
|
|
NM_000465.4(BARD1):c.983T>G (p.Leu328Arg)
|
|
|
|
NM_000465.4(BARD1):c.985T>C (p.Ser329Pro)
|
rs769493354
|
|
|
NM_000465.4(BARD1):c.985T>G (p.Ser329Ala)
|
rs769493354
|
|
|
NM_000465.4(BARD1):c.986C>A (p.Ser329Tyr)
|
rs905626929
|
|
|
NM_000465.4(BARD1):c.988A>T (p.Ser330Cys)
|
|
|
|
NM_000465.4(BARD1):c.989G>A (p.Ser330Asn)
|
rs1574818102
|
|
|
NM_000465.4(BARD1):c.98C>T (p.Ala33Val)
|
rs1559454402
|
|
|
NM_000465.4(BARD1):c.991C>T (p.Pro331Ser)
|
rs1553622313
|
|
|
NM_000465.4(BARD1):c.992C>A (p.Pro331His)
|
rs1422030098
|
|
|
NM_000465.4(BARD1):c.994A>G (p.Ile332Val)
|
rs543606863
|
|
|
NM_000465.4(BARD1):c.994A>T (p.Ile332Phe)
|
rs543606863
|
|
|
NM_000465.4(BARD1):c.996T>G (p.Ile332Met)
|
rs1574818059
|
|
|
NM_000465.4(BARD1):c.9T>G (p.Asp3Glu)
|
|
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
|
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly)
|
rs1569535987
|
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
|
NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe)
|
rs193920835
|
|
|
NM_000506.5(F2):c.734del (p.Leu245fs)
|
rs193920779
|
|
|
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)
|
rs113137368
|
|
|
NM_000535.5(PMS2):c.-101A>G
|
rs587779325
|
|
|
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
|
|
|
|
NM_000535.6(PMS2):c.-48C>A
|
rs886062402
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
|
NM_000535.7(PMS2):c.1001T>C (p.Ile334Thr)
|
rs1234321567
|
|
|
NM_000535.7(PMS2):c.1004A>C (p.Asn335Thr)
|
rs200513014
|
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
|
NM_000535.7(PMS2):c.1006G>A (p.Val336Ile)
|
|
|
|
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg)
|
rs730881912
|
|
|
NM_000535.7(PMS2):c.1010C>A (p.Thr337Asn)
|
|
|
|
NM_000535.7(PMS2):c.1010C>T (p.Thr337Ile)
|
|
|
|
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
|
rs876660508
|
|
|
NM_000535.7(PMS2):c.1013C>A (p.Pro338Gln)
|
|
|
|
NM_000535.7(PMS2):c.1013C>T (p.Pro338Leu)
|
rs1554298804
|
|
|
NM_000535.7(PMS2):c.1014_1015delinsTT (p.Asp339Tyr)
|
rs2128748680
|
|
|
NM_000535.7(PMS2):c.1015G>A (p.Asp339Asn)
|
rs780283029
|
|
|
NM_000535.7(PMS2):c.1015G>C (p.Asp339His)
|
|
|
|
NM_000535.7(PMS2):c.1016A>C (p.Asp339Ala)
|
rs1783546106
|
|
|
NM_000535.7(PMS2):c.1016A>G (p.Asp339Gly)
|
rs1783546106
|
|
|
NM_000535.7(PMS2):c.1018A>G (p.Lys340Glu)
|
rs1783545463
|
|
|
NM_000535.7(PMS2):c.101G>A (p.Ser34Asn)
|
rs370612538
|
|
|
NM_000535.7(PMS2):c.101G>C (p.Ser34Thr)
|
rs370612538
|
|
|
NM_000535.7(PMS2):c.1020_1023delinsTTTC (p.Lys340_Arg341delinsAsnPhe)
|
|
|
|
NM_000535.7(PMS2):c.1023G>T (p.Arg341Ser)
|
|
|
|
NM_000535.7(PMS2):c.1025A>G (p.Gln342Arg)
|
rs1554298797
|
|
|
NM_000535.7(PMS2):c.1025_1027del (p.Gln342_Ile343delinsLeu)
|
|
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
|
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe)
|
rs1554298791
|
|
|
NM_000535.7(PMS2):c.1033C>G (p.Leu345Val)
|
|
|
|
NM_000535.7(PMS2):c.1037A>C (p.Gln346Pro)
|
|
|
|
NM_000535.7(PMS2):c.103C>G (p.Leu35Val)
|
|
|
|
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
|
NM_000535.7(PMS2):c.1042G>A (p.Glu348Lys)
|
rs1783538909
|
|
|
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln)
|
rs1783538909
|
|
|
NM_000535.7(PMS2):c.1046A>C (p.Lys349Thr)
|
rs1562644757
|
|
|
NM_000535.7(PMS2):c.1047G>T (p.Lys349Asn)
|
rs1422380612
|
|
|
NM_000535.7(PMS2):c.1048C>A (p.Leu350Ile)
|
|
|
|
NM_000535.7(PMS2):c.1048C>G (p.Leu350Val)
|
rs587782875
|
|
|
NM_000535.7(PMS2):c.1051T>G (p.Leu351Val)
|
rs1554298759
|
|
|
NM_000535.7(PMS2):c.1052T>G (p.Leu351Trp)
|
rs1783536235
|
|
|
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe)
|
rs1060503145
|
|
|
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser)
|
rs1060503134
|
|
|
NM_000535.7(PMS2):c.1056_1057delinsAT (p.Ala353Ser)
|
rs2128748122
|
|
|
NM_000535.7(PMS2):c.1057G>T (p.Ala353Ser)
|
rs587782826
|
|
|
NM_000535.7(PMS2):c.1058C>A (p.Ala353Glu)
|
rs543676323
|
|
|
NM_000535.7(PMS2):c.1060G>A (p.Val354Ile)
|
rs750984324
|
|
|
NM_000535.7(PMS2):c.1063T>A (p.Leu355Ile)
|
rs1783533003
|
|
|
NM_000535.7(PMS2):c.1063T>G (p.Leu355Val)
|
|
|
|
NM_000535.7(PMS2):c.1068G>T (p.Lys356Asn)
|
rs528499793
|
|
|
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly)
|
rs587781918
|
|
|
NM_000535.7(PMS2):c.1070C>A (p.Thr357Asn)
|
rs980612510
|
|
|
NM_000535.7(PMS2):c.1070C>G (p.Thr357Ser)
|
rs980612510
|
|
|
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile)
|
rs980612510
|
|
|
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr)
|
rs767755376
|
|
|
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala)
|
rs767755376
|
|
|
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys)
|
rs762299041
|
|
|
NM_000535.7(PMS2):c.1073C>T (p.Ser358Phe)
|
rs762299041
|
|
|
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val)
|
rs730881910
|
|
|
NM_000535.7(PMS2):c.1076T>C (p.Leu359Ser)
|
rs1783527422
|
|
|
NM_000535.7(PMS2):c.1077G>T (p.Leu359Phe)
|
rs2128747810
|
|
|
NM_000535.7(PMS2):c.1079T>C (p.Ile360Thr)
|
rs1554298715
|
|
|
NM_000535.7(PMS2):c.1081G>A (p.Gly361Arg)
|
rs1562644325
|
|
|
NM_000535.7(PMS2):c.1082G>C (p.Gly361Ala)
|
rs1064793540
|
|
|
NM_000535.7(PMS2):c.1085T>A (p.Met362Lys)
|
rs2128747721
|
|
|
NM_000535.7(PMS2):c.1085T>C (p.Met362Thr)
|
|
|
|
NM_000535.7(PMS2):c.1086G>A (p.Met362Ile)
|
rs1783524610
|
|
|
NM_000535.7(PMS2):c.1087T>G (p.Phe363Val)
|
rs2128747692
|
|
|
NM_000535.7(PMS2):c.1089T>G (p.Phe363Leu)
|
|
|
|
NM_000535.7(PMS2):c.1090G>C (p.Asp364His)
|
rs2128747657
|
|
|
NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)
|
rs1554298690
|
|
|
NM_000535.7(PMS2):c.1097A>G (p.Asp366Gly)
|
rs1357791251
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
|
NM_000535.7(PMS2):c.109A>G (p.Thr37Ala)
|
rs876659883
|
|
|
NM_000535.7(PMS2):c.109A>T (p.Thr37Ser)
|
|
|
|
NM_000535.7(PMS2):c.10G>A (p.Ala4Thr)
|
|
|
|
NM_000535.7(PMS2):c.10G>C (p.Ala4Pro)
|
rs1786257764
|
|
|
NM_000535.7(PMS2):c.10G>T (p.Ala4Ser)
|
|
|
|
NM_000535.7(PMS2):c.1100T>C (p.Val367Ala)
|
|
|
|
NM_000535.7(PMS2):c.1104C>G (p.Asn368Lys)
|
rs1554298686
|
|
|
NM_000535.7(PMS2):c.1109T>C (p.Leu370Pro)
|
rs1338014748
|
|
|
NM_000535.7(PMS2):c.1111A>C (p.Asn371His)
|
rs1217473969
|
|
|
NM_000535.7(PMS2):c.1113T>G (p.Asn371Lys)
|
rs989130272
|
|
|
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile)
|
rs1554298669
|
|
|
NM_000535.7(PMS2):c.1114G>T (p.Val372Phe)
|
|
|
|
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly)
|
rs1060503125
|
|
|
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)
|
rs1060503147
|
|
|
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg)
|
rs1060503147
|
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
|
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu)
|
rs956005905
|
|
|
NM_000535.7(PMS2):c.1126C>G (p.Pro376Ala)
|
|
|
|
NM_000535.7(PMS2):c.1127C>T (p.Pro376Leu)
|
|
|
|
NM_000535.7(PMS2):c.1129C>A (p.Leu377Met)
|
|
|
|
NM_000535.7(PMS2):c.1129C>G (p.Leu377Val)
|
rs1583334058
|
|
|
NM_000535.7(PMS2):c.1129CTG[1] (p.Leu378del)
|
rs1783510412
|
|
|
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser)
|
rs1554306427
|
|
|
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro)
|
rs1583334040
|
|
|
NM_000535.7(PMS2):c.1133T>C (p.Leu378Pro)
|
rs1783510761
|
|
|
NM_000535.7(PMS2):c.1136A>C (p.Asp379Ala)
|
rs536031711
|
|
|
NM_000535.7(PMS2):c.1138G>A (p.Val380Ile)
|
|
|
|
NM_000535.7(PMS2):c.1139T>C (p.Val380Ala)
|
rs748971523
|
|
|
NM_000535.7(PMS2):c.113C>A (p.Ala38Glu)
|
rs148270248
|
|
|
NM_000535.7(PMS2):c.1144+3A>T
|
rs1430015665
|
|
|
NM_000535.7(PMS2):c.1144+4A>G
|
rs1554298642
|
|
|
NM_000535.7(PMS2):c.1144+5del
|
rs878854032
|
|
|
NM_000535.7(PMS2):c.1144+6A>G
|
rs990022128
|
|
|
NM_000535.7(PMS2):c.1144G>A (p.Gly382Ser)
|
rs779512948
|
|
|
NM_000535.7(PMS2):c.1145-2_1145-1del
|
|
|
|
NM_000535.7(PMS2):c.1145-5C>G
|
|
|
|
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp)
|
rs876661243
|
|
|
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp)
|
rs1583324090
|
|
|
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser)
|
rs1562637184
|
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
|
NM_000535.7(PMS2):c.1150T>G (p.Leu384Val)
|
|
|
|
NM_000535.7(PMS2):c.1153A>C (p.Ile385Leu)
|
|
|
|
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu)
|
rs876658440
|
|
|
NM_000535.7(PMS2):c.115G>T (p.Val39Leu)
|
rs1785697288
|
|
|
NM_000535.7(PMS2):c.1160T>C (p.Met387Thr)
|
|
|
|
NM_000535.7(PMS2):c.1162C>T (p.His388Tyr)
|
rs1783188601
|
|
|
NM_000535.7(PMS2):c.1163A>G (p.His388Arg)
|
rs1178645647
|
|
|
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
|
rs1562637025
|
|
|
NM_000535.7(PMS2):c.1166C>T (p.Ala389Val)
|
rs1554298076
|
|
|
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser)
|
rs1583323871
|
|
|
NM_000535.7(PMS2):c.1169C>A (p.Ala390Glu)
|
rs587780039
|
|
|
NM_000535.7(PMS2):c.1169C>G (p.Ala390Gly)
|
rs587780039
|
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
|
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr)
|
rs1064795020
|
|
|
NM_000535.7(PMS2):c.1172A>C (p.Asp391Ala)
|
rs1583323776
|
|
|
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
|
rs1583323711
|
|
|
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg)
|
rs1583323684
|
|
|
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn)
|
rs1197824645
|
|
|
NM_000535.7(PMS2):c.1184C>G (p.Pro395Arg)
|
rs1783180882
|
|
|
NM_000535.7(PMS2):c.1185C>T (p.Pro395=)
|
rs1562636721
|
|
|
NM_000535.7(PMS2):c.1186A>C (p.Met396Leu)
|
|
|
|
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr)
|
rs786202704
|
|
|
NM_000535.7(PMS2):c.1187T>G (p.Met396Arg)
|
rs786202704
|
|
|
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile)
|
rs1170825702
|
|
|
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile)
|
rs1170825702
|
|
|
NM_000535.7(PMS2):c.1193A>G (p.Glu398Gly)
|
|
|
|
NM_000535.7(PMS2):c.1195A>G (p.Lys399Glu)
|
|
|
|
NM_000535.7(PMS2):c.1196A>G (p.Lys399Arg)
|
rs1583323473
|
|
|
NM_000535.7(PMS2):c.1197G>C (p.Lys399Asn)
|
|
|
|
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn)
|
rs757730609
|
|
|
NM_000535.7(PMS2):c.1198C>G (p.Gln400Glu)
|
|
|
|
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg)
|
rs148069478
|
|
|
NM_000535.7(PMS2):c.119A>C (p.Lys40Thr)
|
|
|
|
NM_000535.7(PMS2):c.11C>T (p.Ala4Val)
|
rs745361721
|
|
|
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)
|
rs1284362486
|
|
|
NM_000535.7(PMS2):c.1201G>T (p.Asp401Tyr)
|
rs1284362486
|
|
|
NM_000535.7(PMS2):c.1203T>A (p.Asp401Glu)
|
rs1057522327
|
|
|
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)
|
rs587782789
|
|
|
NM_000535.7(PMS2):c.1204C>G (p.Gln402Glu)
|
rs587782789
|
|
|
NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)
|
rs1583323301
|
|
|
NM_000535.7(PMS2):c.1208C>A (p.Ser403Tyr)
|
rs1004189664
|
|
|
NM_000535.7(PMS2):c.1210C>T (p.Pro404Ser)
|
|
|
|
NM_000535.7(PMS2):c.1211C>T (p.Pro404Leu)
|
rs536111818
|
|
|
NM_000535.7(PMS2):c.1213T>C (p.Ser405Pro)
|
|
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
|
NM_000535.7(PMS2):c.1220G>A (p.Arg407Lys)
|
rs766400994
|
|
|
NM_000535.7(PMS2):c.1220G>C (p.Arg407Thr)
|
|
|
|
NM_000535.7(PMS2):c.1222A>G (p.Thr408Ala)
|
rs1783169137
|
|
|
NM_000535.7(PMS2):c.1225G>A (p.Gly409Arg)
|
rs864622553
|
|
|
NM_000535.7(PMS2):c.1226G>A (p.Gly409Glu)
|
rs1554298002
|
|
|
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val)
|
rs1554298002
|
|
|
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys)
|
rs1358586679
|
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
|
NM_000535.7(PMS2):c.122A>T (p.Glu41Val)
|
|
|
|
NM_000535.7(PMS2):c.1231G>A (p.Glu411Lys)
|
rs1159969834
|
|
|
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu)
|
rs786202871
|
|
|
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala)
|
rs587782832
|
|
|
NM_000535.7(PMS2):c.1232A>G (p.Glu411Gly)
|
rs587782832
|
|
|
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)
|
rs587780040
|
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
|
NM_000535.7(PMS2):c.1237_1239delinsGGG (p.Lys413Gly)
|
rs1562635824
|
|
|
NM_000535.7(PMS2):c.1238A>C (p.Lys413Thr)
|
rs1445088475
|
|
|
NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)
|
|
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
|
NM_000535.7(PMS2):c.1239A>C (p.Lys413Asn)
|
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
|
NM_000535.7(PMS2):c.1240G>A (p.Asp414Asn)
|
rs370752614
|
|
|
NM_000535.7(PMS2):c.1240G>C (p.Asp414His)
|
rs370752614
|
|
|
NM_000535.7(PMS2):c.1241A>T (p.Asp414Val)
|
|
|
|
NM_000535.7(PMS2):c.1243G>C (p.Val415Leu)
|
rs138387687
|
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
|
NM_000535.7(PMS2):c.1247C>A (p.Ser416Tyr)
|
rs1554297981
|
|
|
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys)
|
rs1554297981
|
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
|
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)
|
rs1060503132
|
|
|
NM_000535.7(PMS2):c.1251T>G (p.Ile417Met)
|
rs1057521136
|
|
|
NM_000535.7(PMS2):c.1253C>G (p.Ser418Cys)
|
rs587782640
|
|
|
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly)
|
rs1554297975
|
|
|
NM_000535.7(PMS2):c.1256G>C (p.Arg419Thr)
|
rs1783156550
|
|
|
NM_000535.7(PMS2):c.1256G>T (p.Arg419Ile)
|
|
|
|
NM_000535.7(PMS2):c.1258C>G (p.Leu420Val)
|
rs1783155735
|
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
|
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del)
|
rs1064794820
|
|
|
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu)
|
rs778482303
|
|
|
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly)
|
rs1562635355
|
|
|
NM_000535.7(PMS2):c.1266G>C (p.Glu422Asp)
|
rs138049175
|
|
|
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)
|
rs587778619
|
|
|
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val)
|
rs756883400
|
|
|
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu)
|
rs1562635229
|
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
|
NM_000535.7(PMS2):c.1274C>G (p.Ser425Cys)
|
rs1783150023
|
|
|
NM_000535.7(PMS2):c.1274C>T (p.Ser425Phe)
|
|
|
|
NM_000535.7(PMS2):c.1276C>G (p.Leu426Val)
|
|
|
|
NM_000535.7(PMS2):c.1276C>T (p.Leu426Phe)
|
rs2128734575
|
|
|
NM_000535.7(PMS2):c.1277T>A (p.Leu426His)
|
rs1783149672
|
|
|
NM_000535.7(PMS2):c.127G>A (p.Val43Ile)
|
rs587780042
|
|
|
NM_000535.7(PMS2):c.1280G>T (p.Arg427Leu)
|
|
|
|
NM_000535.7(PMS2):c.1282C>T (p.His428Tyr)
|
rs1554297948
|
|
|
NM_000535.7(PMS2):c.1283A>G (p.His428Arg)
|
rs1583322096
|
|
|
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala)
|
rs1450566410
|
|
|
NM_000535.7(PMS2):c.1285A>T (p.Thr429Ser)
|
|
|
|
NM_000535.7(PMS2):c.1286C>A (p.Thr429Lys)
|
|
|
|
NM_000535.7(PMS2):c.1288A>T (p.Thr430Ser)
|
rs587781382
|
|
|
NM_000535.7(PMS2):c.1289C>G (p.Thr430Arg)
|
rs1583322001
|
|
|
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser)
|
rs1583321984
|
|
|
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys)
|
rs1562635023
|
|
|
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr)
|
rs1064796375
|
|
|
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg)
|
rs1554297919
|
|
|
NM_000535.7(PMS2):c.1301C>T (p.Pro434Leu)
|
rs1554297919
|
|
|
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)
|
rs148956636
|
|
|
NM_000535.7(PMS2):c.1304A>G (p.His435Arg)
|
|
|
|
NM_000535.7(PMS2):c.1305C>G (p.His435Gln)
|
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
|
NM_000535.7(PMS2):c.1307G>A (p.Ser436Asn)
|
rs876658441
|
|
|
NM_000535.7(PMS2):c.1308C>G (p.Ser436Arg)
|
|
|
|
NM_000535.7(PMS2):c.1310C>T (p.Pro437Leu)
|
rs1783139001
|
|
|
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln)
|
rs878854033
|
|
|
NM_000535.7(PMS2):c.1312A>G (p.Lys438Glu)
|
rs878854033
|
|
|
NM_000535.7(PMS2):c.1314G>T (p.Lys438Asn)
|
|
|
|
NM_000535.7(PMS2):c.1315A>G (p.Thr439Ala)
|
|
|
|
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr)
|
rs762894051
|
|
|
NM_000535.7(PMS2):c.1318C>T (p.Pro440Ser)
|
|
|
|
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu)
|
rs1064793233
|
|
|
NM_000535.7(PMS2):c.131A>G (p.Glu44Gly)
|
rs876659955
|
|
|
NM_000535.7(PMS2):c.1321G>C (p.Glu441Gln)
|
rs1783135008
|
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
|
NM_000535.7(PMS2):c.1324C>A (p.Pro442Thr)
|
|
|
|
NM_000535.7(PMS2):c.1324C>T (p.Pro442Ser)
|
rs1783134322
|
|
|
NM_000535.7(PMS2):c.1325C>A (p.Pro442Gln)
|
rs1783133970
|
|
|
NM_000535.7(PMS2):c.1325C>T (p.Pro442Leu)
|
|
|
|
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly)
|
rs1222691058
|
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
|
NM_000535.7(PMS2):c.132A>C (p.Glu44Asp)
|
|
|
|
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met)
|
rs1241272236
|
|
|
NM_000535.7(PMS2):c.1334G>A (p.Ser445Asn)
|
rs1554297872
|
|
|
NM_000535.7(PMS2):c.1336C>G (p.Pro446Ala)
|
|
|
|
NM_000535.7(PMS2):c.1336C>T (p.Pro446Ser)
|
rs2128733048
|
|
|
NM_000535.7(PMS2):c.1339C>G (p.Leu447Val)
|
rs1783129874
|
|
|
NM_000535.7(PMS2):c.1342G>A (p.Gly448Arg)
|
rs786203757
|
|
|
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu)
|
rs1060503118
|
|
|
NM_000535.7(PMS2):c.1343G>C (p.Gly448Ala)
|
rs1060503118
|
|
|
NM_000535.7(PMS2):c.1349A>G (p.Lys450Arg)
|
rs1783126726
|
|
|
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)
|
rs1554306353
|
|
|
NM_000535.7(PMS2):c.1352G>C (p.Arg451Thr)
|
rs876660834
|
|
|
NM_000535.7(PMS2):c.1353G>C (p.Arg451Ser)
|
|
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
|
NM_000535.7(PMS2):c.1354G>T (p.Gly452Cys)
|
rs569947936
|
|
|
NM_000535.7(PMS2):c.1355G>C (p.Gly452Ala)
|
|
|
|
NM_000535.7(PMS2):c.1355G>T (p.Gly452Val)
|
rs1490598044
|
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
|
NM_000535.7(PMS2):c.1357A>T (p.Met453Leu)
|
|
|
|
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr)
|
rs1060503130
|
|
|
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)
|
rs1060503130
|
|
|
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile)
|
rs886062401
|
|
|
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile)
|
rs886062401
|
|
|
NM_000535.7(PMS2):c.1360C>G (p.Leu454Val)
|
|
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
|
NM_000535.7(PMS2):c.1366T>G (p.Ser456Ala)
|
rs2128732309
|
|
|
NM_000535.7(PMS2):c.1369A>G (p.Ser457Gly)
|
rs2128732252
|
|
|
NM_000535.7(PMS2):c.136A>G (p.Ser46Gly)
|
rs1554306350
|
|
|
NM_000535.7(PMS2):c.1372A>G (p.Thr458Ala)
|
rs779306532
|
|
|
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn)
|
rs755348833
|
|
|
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile)
|
rs755348833
|
|
|
NM_000535.7(PMS2):c.1376C>T (p.Ser459Leu)
|
rs587780724
|
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
|
NM_000535.7(PMS2):c.1385T>A (p.Ile462Asn)
|
rs1562633639
|
|
|
NM_000535.7(PMS2):c.1386C>G (p.Ile462Met)
|
rs750448069
|
|
|
NM_000535.7(PMS2):c.1390G>C (p.Asp464His)
|
|
|
|
NM_000535.7(PMS2):c.1391A>T (p.Asp464Val)
|
rs1583320657
|
|
|
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)
|
rs1060503135
|
|
|
NM_000535.7(PMS2):c.1394A>C (p.Lys465Thr)
|
rs141084758
|
|
|
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn)
|
rs1208428952
|
|
|
NM_000535.7(PMS2):c.1396G>A (p.Gly466Ser)
|
rs1783106566
|
|
|
NM_000535.7(PMS2):c.1396G>C (p.Gly466Arg)
|
rs1783106566
|
|
|
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp)
|
rs1339878885
|
|
|
NM_000535.7(PMS2):c.1397G>T (p.Gly466Val)
|
rs1339878885
|
|
|
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu)
|
rs373611083
|
|
|
NM_000535.7(PMS2):c.13G>A (p.Glu5Lys)
|
rs372539944
|
|
|
NM_000535.7(PMS2):c.1402C>G (p.Leu468Val)
|
rs759306219
|
|
|
NM_000535.7(PMS2):c.1406G>A (p.Arg469Lys)
|
rs1783102663
|
|
|
NM_000535.7(PMS2):c.1409C>T (p.Pro470Leu)
|
rs1783101060
|
|
|
NM_000535.7(PMS2):c.1415A>G (p.Lys472Arg)
|
|
|
|
NM_000535.7(PMS2):c.1419G>C (p.Glu473Asp)
|
rs2128731146
|
|
|
NM_000535.7(PMS2):c.1420G>A (p.Ala474Thr)
|
rs373114291
|
|
|
NM_000535.7(PMS2):c.1422A>G (p.Ala474=)
|
rs1057522125
|
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
|
NM_000535.7(PMS2):c.1423G>T (p.Val475Leu)
|
rs864622579
|
|
|
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu)
|
rs587781827
|
|
|
NM_000535.7(PMS2):c.1424T>G (p.Val475Gly)
|
rs587781827
|
|
|
NM_000535.7(PMS2):c.1427G>A (p.Ser476Asn)
|
|
|
|
NM_000535.7(PMS2):c.1427G>C (p.Ser476Thr)
|
rs1583320215
|
|
|
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr)
|
rs1554297760
|
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
|
NM_000535.7(PMS2):c.142G>C (p.Asp48His)
|
|
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
|
|
NM_000535.7(PMS2):c.1430C>G (p.Ser477Cys)
|
|
|
|
NM_000535.7(PMS2):c.1430C>T (p.Ser477Phe)
|
|
|
|
NM_000535.7(PMS2):c.1433G>C (p.Ser478Thr)
|
rs748643694
|
|
|
NM_000535.7(PMS2):c.1433G>T (p.Ser478Ile)
|
rs748643694
|
|
|
NM_000535.7(PMS2):c.1435C>T (p.His479Tyr)
|
rs376344586
|
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
|
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
|
NM_000535.7(PMS2):c.1442C>A (p.Pro481His)
|
rs1168365577
|
|
|
NM_000535.7(PMS2):c.1442C>G (p.Pro481Arg)
|
|
|
|
NM_000535.7(PMS2):c.1445G>C (p.Ser482Thr)
|
rs2128730498
|
|
|
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)
|
rs1583319965
|
|
|
NM_000535.7(PMS2):c.1449C>G (p.Asp483Glu)
|
rs1583319929
|
|
|
NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg)
|
rs1583319873
|
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
|
NM_000535.7(PMS2):c.1456G>A (p.Asp486Asn)
|
|
|
|
NM_000535.7(PMS2):c.1456G>C (p.Asp486His)
|
rs2128730228
|
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
|
NM_000535.7(PMS2):c.1459A>G (p.Arg487Gly)
|
|
|
|
NM_000535.7(PMS2):c.145G>A (p.Ala49Thr)
|
rs1583418527
|
|
|
NM_000535.7(PMS2):c.145G>C (p.Ala49Pro)
|
|
|
|
NM_000535.7(PMS2):c.1460G>C (p.Arg487Thr)
|
rs1783084707
|
|
|
NM_000535.7(PMS2):c.1462G>A (p.Ala488Thr)
|
rs1783084396
|
|
|
NM_000535.7(PMS2):c.1463C>G (p.Ala488Gly)
|
|
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
|
NM_000535.7(PMS2):c.1467G>C (p.Glu489Asp)
|
rs542522853
|
|
|
NM_000535.7(PMS2):c.1468G>T (p.Val490Leu)
|
rs1783082219
|
|
|
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly)
|
rs786203255
|
|
|
NM_000535.7(PMS2):c.146C>T (p.Ala49Val)
|
rs786203255
|
|
|
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys)
|
rs1064794577
|
|
|
NM_000535.7(PMS2):c.1471G>C (p.Glu491Gln)
|
rs1064794577
|
|
|
NM_000535.7(PMS2):c.1471_1473del (p.Glu491del)
|
rs764854869
|
|
|
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
|
rs530105089
|
|
|
NM_000535.7(PMS2):c.1474A>C (p.Lys492Gln)
|
rs1783080233
|
|
|
NM_000535.7(PMS2):c.1474_1476del (p.Lys492del)
|
rs1783079655
|
|
|
NM_000535.7(PMS2):c.1475A>G (p.Lys492Arg)
|
rs1583319590
|
|
|
NM_000535.7(PMS2):c.1476G>T (p.Lys492Asn)
|
rs766309532
|
|
|
NM_000535.7(PMS2):c.1477G>C (p.Asp493His)
|
rs148642064
|
|
|
NM_000535.7(PMS2):c.1481C>G (p.Ser494Trp)
|
rs587782602
|
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
|
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg)
|
rs1554297701
|
|
|
NM_000535.7(PMS2):c.1484G>A (p.Gly495Glu)
|
rs1064793846
|
|
|
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala)
|
rs1064793846
|
|
|
NM_000535.7(PMS2):c.1486C>A (p.His496Asn)
|
rs1783075126
|
|
|
NM_000535.7(PMS2):c.1488C>A (p.His496Gln)
|
|
|
|
NM_000535.7(PMS2):c.1489G>T (p.Gly497Cys)
|
rs749826312
|
|
|
NM_000535.7(PMS2):c.1493G>A (p.Ser498Asn)
|
rs1783073277
|
|
|
NM_000535.7(PMS2):c.1494C>G (p.Ser498Arg)
|
|
|
|
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala)
|
rs1060503117
|
|
|
NM_000535.7(PMS2):c.1496C>G (p.Thr499Ser)
|
|
|
|
NM_000535.7(PMS2):c.1498T>C (p.Ser500Pro)
|
rs1783071898
|
|
|
NM_000535.7(PMS2):c.1499C>A (p.Ser500Tyr)
|
|
|
|
NM_000535.7(PMS2):c.149G>T (p.Gly50Val)
|
|
|
|
NM_000535.7(PMS2):c.14A>G (p.Glu5Gly)
|
rs876659080
|
|
|
NM_000535.7(PMS2):c.1500_1501delinsTC (p.Val501Leu)
|
|
|
|
NM_000535.7(PMS2):c.1504G>A (p.Asp502Asn)
|
|
|
|
NM_000535.7(PMS2):c.1507T>C (p.Ser503Pro)
|
rs864622497
|
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
|
NM_000535.7(PMS2):c.1508C>T (p.Ser503Phe)
|
rs777920014
|
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
|
NM_000535.7(PMS2):c.1513G>A (p.Gly505Arg)
|
rs1554297662
|
|
|
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp)
|
rs1554297662
|
|
|
NM_000535.7(PMS2):c.1514G>A (p.Gly505Glu)
|
|
|
|
NM_000535.7(PMS2):c.1514G>T (p.Gly505Val)
|
rs1783066325
|
|
|
NM_000535.7(PMS2):c.1517T>A (p.Phe506Tyr)
|
rs1325463342
|
|
|
NM_000535.7(PMS2):c.1519A>T (p.Ser507Cys)
|
|
|
|
NM_000535.7(PMS2):c.151G>A (p.Ala51Thr)
|
|
|
|
NM_000535.7(PMS2):c.1520G>C (p.Ser507Thr)
|
|
|
|
NM_000535.7(PMS2):c.1522A>G (p.Ile508Val)
|
rs63750272
|
|
|
NM_000535.7(PMS2):c.1522A>T (p.Ile508Phe)
|
rs63750272
|
|
|
NM_000535.7(PMS2):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_000535.7(PMS2):c.1526C>T (p.Pro509Leu)
|
rs63750503
|
|
|
NM_000535.7(PMS2):c.1529A>G (p.Asp510Gly)
|
|
|
|
NM_000535.7(PMS2):c.152C>A (p.Ala51Asp)
|
rs1583418405
|
|
|
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser)
|
rs2228007
|
|
|
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)
|
rs1060503127
|
|
|
NM_000535.7(PMS2):c.1534G>T (p.Gly512Cys)
|
rs1060503127
|
|
|
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp)
|
rs1450081432
|
|
|
NM_000535.7(PMS2):c.1537A>G (p.Ser513Gly)
|
rs1583318731
|
|
|
NM_000535.7(PMS2):c.1537A>T (p.Ser513Cys)
|
rs1583318731
|
|
|
NM_000535.7(PMS2):c.1538G>C (p.Ser513Thr)
|
rs1562631126
|
|
|
NM_000535.7(PMS2):c.1540C>A (p.His514Asn)
|
rs878854036
|
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
|
NM_000535.7(PMS2):c.1541A>C (p.His514Pro)
|
rs2128728425
|
|
|
NM_000535.7(PMS2):c.1544G>A (p.Cys515Tyr)
|
|
|
|
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly)
|
rs1554297592
|
|
|
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del)
|
rs970418297
|
|
|
NM_000535.7(PMS2):c.1547G>A (p.Ser516Asn)
|
rs2128728322
|
|
|
NM_000535.7(PMS2):c.1548C>A (p.Ser516Arg)
|
|
|
|
NM_000535.7(PMS2):c.154A>C (p.Thr52Pro)
|
|
|
|
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn)
|
rs1562630934
|
|
|
NM_000535.7(PMS2):c.1550G>T (p.Ser517Ile)
|
rs1562630934
|
|
|
NM_000535.7(PMS2):c.1551C>T (p.Ser517=)
|
rs587782479
|
|
|
NM_000535.7(PMS2):c.1552G>C (p.Glu518Gln)
|
|
|
|
NM_000535.7(PMS2):c.1553A>T (p.Glu518Val)
|
|
|
|
NM_000535.7(PMS2):c.1556A>C (p.Tyr519Ser)
|
|
|
|
NM_000535.7(PMS2):c.1558G>A (p.Ala520Thr)
|
rs1554297573
|
|
|
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser)
|
rs1583418387
|
|
|
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr)
|
rs1164227556
|
|
|
NM_000535.7(PMS2):c.1561G>T (p.Ala521Ser)
|
|
|
|
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
|
rs1554297553
|
|
|
NM_000535.7(PMS2):c.1564A>T (p.Ser522Cys)
|
rs1554297553
|
|
|
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr)
|
rs1783049434
|
|
|
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
|
|
|
|
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys)
|
rs1583318261
|
|
|
NM_000535.7(PMS2):c.1568C>T (p.Ser523Phe)
|
rs1583318261
|
|
|
NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)
|
rs63751257
|
|
|
NM_000535.7(PMS2):c.1573G>A (p.Gly525Arg)
|
rs1265449448
|
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
|
|
|
NM_000535.7(PMS2):c.1575G>T (p.Gly525=)
|
rs1783045939
|
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
|
NM_000535.7(PMS2):c.1576G>C (p.Asp526His)
|
rs63750686
|
|
|
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu)
|
rs63750236
|
|
|
NM_000535.7(PMS2):c.1579A>G (p.Arg527Gly)
|
rs756823316
|
|
|
NM_000535.7(PMS2):c.157A>C (p.Asn53His)
|
|
|
|
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp)
|
rs1554306309
|
|
|
NM_000535.7(PMS2):c.157A>T (p.Asn53Tyr)
|
rs1554306309
|
|
|
NM_000535.7(PMS2):c.1580G>C (p.Arg527Thr)
|
rs1783042729
|
|
|
NM_000535.7(PMS2):c.1585T>A (p.Ser529Thr)
|
|
|
|
NM_000535.7(PMS2):c.1588C>A (p.Gln530Lys)
|
rs751261543
|
|
|
NM_000535.7(PMS2):c.1588C>G (p.Gln530Glu)
|
rs751261543
|
|
|
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg)
|
rs1783039464
|
|
|
NM_000535.7(PMS2):c.158A>G (p.Asn53Ser)
|
rs1272484713
|
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
|
NM_000535.7(PMS2):c.1594C>T (p.His532Tyr)
|
rs1783037687
|
|
|
NM_000535.7(PMS2):c.1595A>G (p.His532Arg)
|
rs1554297505
|
|
|
NM_000535.7(PMS2):c.1600G>T (p.Asp534Tyr)
|
rs1583317784
|
|
|
NM_000535.7(PMS2):c.1604C>A (p.Ser535Tyr)
|
|
|
|
NM_000535.7(PMS2):c.1604C>T (p.Ser535Phe)
|
rs762579299
|
|
|
NM_000535.7(PMS2):c.1606C>G (p.Gln536Glu)
|
|
|
|
NM_000535.7(PMS2):c.160A>G (p.Ile54Val)
|
|
|
|
NM_000535.7(PMS2):c.1610A>G (p.Glu537Gly)
|
|
|
|
NM_000535.7(PMS2):c.1613A>G (p.Lys538Arg)
|
|
|
|
NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser)
|
rs1783031685
|
|
|
NM_000535.7(PMS2):c.1616C>A (p.Ala539Glu)
|
|
|
|
NM_000535.7(PMS2):c.1619C>A (p.Pro540His)
|
rs1562629708
|
|
|
NM_000535.7(PMS2):c.1619C>G (p.Pro540Arg)
|
rs1562629708
|
|
|
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr)
|
rs764565924
|
|
|
NM_000535.7(PMS2):c.1625C>T (p.Thr542Ile)
|
|
|
|
NM_000535.7(PMS2):c.1628A>G (p.Asp543Gly)
|
rs1060503146
|
|
|
NM_000535.7(PMS2):c.162T>C (p.Ile54=)
|
|
|
|
NM_000535.7(PMS2):c.163+5G>C
|
|
|
|
NM_000535.7(PMS2):c.1630G>T (p.Asp544Tyr)
|
rs876660139
|
|
|
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val)
|
rs1562629531
|
|
|
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)
|
rs786203439
|
|
|
NM_000535.7(PMS2):c.1632C>G (p.Asp544Glu)
|
rs786203439
|
|
|
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
|
rs1247571278
|
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
|
NM_000535.7(PMS2):c.1636T>A (p.Phe546Ile)
|
|
|
|
NM_000535.7(PMS2):c.1637T>G (p.Phe546Cys)
|
rs2128726334
|
|
|
NM_000535.7(PMS2):c.1639T>C (p.Ser547Pro)
|
rs1554297423
|
|
|
NM_000535.7(PMS2):c.164-10A>G
|
|
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
|
NM_000535.7(PMS2):c.1643A>C (p.Asp548Ala)
|
rs1269515306
|
|
|
NM_000535.7(PMS2):c.1643A>T (p.Asp548Val)
|
|
|
|
NM_000535.7(PMS2):c.1645G>A (p.Val549Met)
|
rs1199136734
|
|
|
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala)
|
rs779150753
|
|
|
NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)
|
rs779150753
|
|
|
NM_000535.7(PMS2):c.1648G>T (p.Asp550Tyr)
|
rs2128726061
|
|
|
NM_000535.7(PMS2):c.1649A>G (p.Asp550Gly)
|
|
|
|
NM_000535.7(PMS2):c.164A>T (p.Asp55Val)
|
rs587781846
|
|
|
NM_000535.7(PMS2):c.1651T>C (p.Cys551Arg)
|
|
|
|
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe)
|
rs1554297409
|
|
|
NM_000535.7(PMS2):c.1654C>A (p.His552Asn)
|
rs786204114
|
|
|
NM_000535.7(PMS2):c.1655A>G (p.His552Arg)
|
|
|
|
NM_000535.7(PMS2):c.1658C>T (p.Ser553Leu)
|
|
|
|
NM_000535.7(PMS2):c.1662C>A (p.Asn554Lys)
|
|
|
|
NM_000535.7(PMS2):c.1663C>A (p.Gln555Lys)
|
|
|
|
NM_000535.7(PMS2):c.1664A>G (p.Gln555Arg)
|
rs745836140
|
|
|
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln)
|
rs786202656
|
|
|
NM_000535.7(PMS2):c.1667A>G (p.Glu556Gly)
|
rs2128725672
|
|
|
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile)
|
rs371011390
|
|
|
NM_000535.7(PMS2):c.1670A>G (p.Asp557Gly)
|
rs1562629043
|
|
|
NM_000535.7(PMS2):c.1670A>T (p.Asp557Val)
|
rs1562629043
|
|
|
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala)
|
rs781106967
|
|
|
NM_000535.7(PMS2):c.1672A>T (p.Thr558Ser)
|
|
|
|
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
|
|
|
|
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile)
|
rs114037612
|
|
|
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
|
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
|
NM_000535.7(PMS2):c.1679G>C (p.Cys560Ser)
|
rs757989905
|
|
|
NM_000535.7(PMS2):c.1681A>G (p.Lys561Glu)
|
rs1583316925
|
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
|
NM_000535.7(PMS2):c.1684T>C (p.Phe562Leu)
|
rs1583316879
|
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
|
NM_000535.7(PMS2):c.1687C>G (p.Arg563Gly)
|
rs587778618
|
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1690G>A (p.Val564Ile)
|
|
|
|
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)
|
rs786202870
|
|
|
NM_000535.7(PMS2):c.1694T>C (p.Leu565Ser)
|
rs1783008091
|
|
|
NM_000535.7(PMS2):c.1695G>T (p.Leu565Phe)
|
|
|
|
NM_000535.7(PMS2):c.1696C>A (p.Pro566Thr)
|
|
|
|
NM_000535.7(PMS2):c.1697C>T (p.Pro566Leu)
|
rs2128725121
|
|
|
NM_000535.7(PMS2):c.16A>T (p.Ser6Cys)
|
rs1786254768
|
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
|
NM_000535.7(PMS2):c.1701G>C (p.Gln567His)
|
rs1783006792
|
|
|
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser)
|
rs786204115
|
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
|
NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu)
|
rs869312801
|
|
|
NM_000535.7(PMS2):c.1705A>C (p.Thr569Pro)
|
rs762151417
|
|
|
NM_000535.7(PMS2):c.1705A>T (p.Thr569Ser)
|
|
|
|
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
|
rs115670442
|
|
|
NM_000535.7(PMS2):c.1709A>G (p.Asn570Ser)
|
rs2128724896
|
|
|
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr)
|
rs765474498
|
|
|
NM_000535.7(PMS2):c.1712T>A (p.Leu571His)
|
rs1060503128
|
|
|
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)
|
rs1060503128
|
|
|
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser)
|
rs63751023
|
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
|
NM_000535.7(PMS2):c.1717A>G (p.Thr573Ala)
|
|
|
|
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)
|
rs876660076
|
|
|
NM_000535.7(PMS2):c.1723A>C (p.Asn575His)
|
|
|
|
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser)
|
rs863224677
|
|
|
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile)
|
rs1554297301
|
|
|
NM_000535.7(PMS2):c.1730A>T (p.Lys577Met)
|
rs2128724485
|
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
|
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu)
|
rs63750770
|
|
|
NM_000535.7(PMS2):c.1741A>G (p.Lys581Glu)
|
rs63750598
|
|
|
NM_000535.7(PMS2):c.1742A>T (p.Lys581Ile)
|
rs1554297289
|
|
|
NM_000535.7(PMS2):c.1743A>C (p.Lys581Asn)
|
|
|
|
NM_000535.7(PMS2):c.1744G>A (p.Glu582Lys)
|
rs63750739
|
|
|
NM_000535.7(PMS2):c.1745A>G (p.Glu582Gly)
|
|
|
|
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val)
|
rs1562627848
|
|
|
NM_000535.7(PMS2):c.1750A>G (p.Ile584Val)
|
rs1782990154
|
|
|
NM_000535.7(PMS2):c.1753C>G (p.Leu585Val)
|
|
|
|
NM_000535.7(PMS2):c.1753C>T (p.Leu585Phe)
|
rs63750947
|
|
|
NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro)
|
rs1562627766
|
|
|
NM_000535.7(PMS2):c.1757C>G (p.Ser586Cys)
|
rs1335723102
|
|
|
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
|
rs1554297277
|
|
|
NM_000535.7(PMS2):c.1759A>G (p.Ser587Gly)
|
rs1554297277
|
|
|
NM_000535.7(PMS2):c.175A>G (p.Lys59Glu)
|
rs2128830628
|
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
|
NM_000535.7(PMS2):c.1762T>G (p.Ser588Ala)
|
|
|
|
NM_000535.7(PMS2):c.1763C>G (p.Ser588Cys)
|
rs2128723884
|
|
|
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val)
|
rs63750476
|
|
|
NM_000535.7(PMS2):c.176A>T (p.Lys59Met)
|
rs2128830591
|
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
|
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser)
|
rs1583315717
|
|
|
NM_000535.7(PMS2):c.1772_1773delinsTG (p.Cys591Leu)
|
|
|
|
NM_000535.7(PMS2):c.1774C>A (p.Gln592Lys)
|
rs63750994
|
|
|
NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)
|
rs63750994
|
|
|
NM_000535.7(PMS2):c.1775A>G (p.Gln592Arg)
|
|
|
|
NM_000535.7(PMS2):c.177G>C (p.Lys59Asn)
|
rs1785429079
|
|
|
NM_000535.7(PMS2):c.1783G>A (p.Val595Ile)
|
|
|
|
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu)
|
rs1171070752
|
|
|
NM_000535.7(PMS2):c.1783G>T (p.Val595Leu)
|
|
|
|
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala)
|
rs1554297236
|
|
|
NM_000535.7(PMS2):c.1784_1804del (p.Val595_Ser601del)
|
rs1782974131
|
|
|
NM_000535.7(PMS2):c.1785A>G (p.Val595=)
|
rs2128723511
|
|
|
NM_000535.7(PMS2):c.1786A>C (p.Asn596His)
|
|
|
|
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp)
|
rs1583315513
|
|
|
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro)
|
rs1805318
|
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
|
NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr)
|
rs587782176
|
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
|
NM_000535.7(PMS2):c.1795G>C (p.Asp599His)
|
|
|
|
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)
|
rs878854039
|
|
|
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val)
|
rs878854039
|
|
|
NM_000535.7(PMS2):c.1797C>G (p.Asp599Glu)
|
rs1261280629
|
|
|
NM_000535.7(PMS2):c.1798A>T (p.Met600Leu)
|
rs1304634005
|
|
|
NM_000535.7(PMS2):c.1799T>C (p.Met600Thr)
|
|
|
|
NM_000535.7(PMS2):c.179A>G (p.Asp60Gly)
|
rs771348650
|
|
|
NM_000535.7(PMS2):c.17G>A (p.Ser6Asn)
|
rs587781112
|
|
|
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr)
|
rs587781112
|
|
|
NM_000535.7(PMS2):c.17G>T (p.Ser6Ile)
|
rs587781112
|
|
|
NM_000535.7(PMS2):c.1800G>A (p.Met600Ile)
|
rs63750260
|
|
|
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
|
|
|
|
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe)
|
rs770841005
|
|
|
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu)
|
rs1064793426
|
|
|
NM_000535.7(PMS2):c.1811A>G (p.Gln604Arg)
|
rs2128723018
|
|
|
NM_000535.7(PMS2):c.1812G>C (p.Gln604His)
|
rs63750788
|
|
|
NM_000535.7(PMS2):c.1813G>A (p.Val605Ile)
|
rs1782971627
|
|
|
NM_000535.7(PMS2):c.1813G>C (p.Val605Leu)
|
|
|
|
NM_000535.7(PMS2):c.1819G>T (p.Val607Leu)
|
rs786204109
|
|
|
NM_000535.7(PMS2):c.1820T>A (p.Val607Glu)
|
|
|
|
NM_000535.7(PMS2):c.1820T>C (p.Val607Ala)
|
|
|
|
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val)
|
rs1562627020
|
|
|
NM_000535.7(PMS2):c.1825G>A (p.Val609Met)
|
|
|
|
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala)
|
rs1583315021
|
|
|
NM_000535.7(PMS2):c.1828A>C (p.Lys610Gln)
|
rs199700509
|
|
|
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met)
|
rs1554297188
|
|
|
NM_000535.7(PMS2):c.1833TAA[1] (p.Asn612del)
|
rs1583314881
|
|
|
NM_000535.7(PMS2):c.1834A>G (p.Asn612Asp)
|
rs1782966310
|
|
|
NM_000535.7(PMS2):c.1838A>C (p.Lys613Thr)
|
|
|
|
NM_000535.7(PMS2):c.1838A>T (p.Lys613Met)
|
rs2128722605
|
|
|
NM_000535.7(PMS2):c.1840A>G (p.Lys614Glu)
|
|
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
|
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
|
|
|
|
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile)
|
rs1782962260
|
|
|
NM_000535.7(PMS2):c.1843G>T (p.Val615Phe)
|
|
|
|
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala)
|
rs1060503112
|
|
|
NM_000535.7(PMS2):c.1846G>T (p.Val616Leu)
|
rs1782961561
|
|
|
NM_000535.7(PMS2):c.1847T>A (p.Val616Glu)
|
|
|
|
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala)
|
rs1583314800
|
|
|
NM_000535.7(PMS2):c.1847T>G (p.Val616Gly)
|
|
|
|
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)
|
rs864622096
|
|
|
NM_000535.7(PMS2):c.184G>A (p.Gly62Arg)
|
rs1182171111
|
|
|
NM_000535.7(PMS2):c.1850C>G (p.Pro617Arg)
|
rs747785888
|
|
|
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro)
|
rs63751253
|
|
|
NM_000535.7(PMS2):c.1855G>A (p.Asp619Asn)
|
rs1179605136
|
|
|
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu)
|
rs876661271
|
|
|
NM_000535.7(PMS2):c.1862C>G (p.Ser621Cys)
|
rs1583314570
|
|
|
NM_000535.7(PMS2):c.1868G>A (p.Ser623Asn)
|
rs1562626526
|
|
|
NM_000535.7(PMS2):c.1870T>G (p.Ser624Ala)
|
rs63750980
|
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
|
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro)
|
rs587779331
|
|
|
NM_000535.7(PMS2):c.1876G>T (p.Ala626Ser)
|
rs587779331
|
|
|
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp)
|
rs786203121
|
|
|
NM_000535.7(PMS2):c.1879A>G (p.Lys627Glu)
|
rs2128721900
|
|
|
NM_000535.7(PMS2):c.187_192del (p.Val63_Asp64del)
|
|
|
|
NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)
|
|
|
|
NM_000535.7(PMS2):c.1885A>G (p.Ile629Val)
|
rs63751209
|
|
|
NM_000535.7(PMS2):c.1886T>C (p.Ile629Thr)
|
rs1782948843
|
|
|
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)
|
rs1583314135
|
|
|
NM_000535.7(PMS2):c.1890G>C (p.Lys630Asn)
|
rs1782948207
|
|
|
NM_000535.7(PMS2):c.1890G>T (p.Lys630Asn)
|
|
|
|
NM_000535.7(PMS2):c.1895T>C (p.Leu632Ser)
|
rs2128721689
|
|
|
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
|
rs1583314065
|
|
|
NM_000535.7(PMS2):c.1898A>G (p.His633Arg)
|
rs63750024
|
|
|
NM_000535.7(PMS2):c.18C>G (p.Ser6Arg)
|
rs1221290124
|
|
|
NM_000535.7(PMS2):c.1900C>A (p.His634Asn)
|
|
|
|
NM_000535.7(PMS2):c.1901A>T (p.His634Leu)
|
rs767904893
|
|
|
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys)
|
rs878854040
|
|
|
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr)
|
rs876658863
|
|
|
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
|
|
|
|
NM_000535.7(PMS2):c.1910A>C (p.Gln637Pro)
|
|
|
|
NM_000535.7(PMS2):c.1914A>C (p.Gln638His)
|
rs1583313823
|
|
|
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)
|
rs876659769
|
|
|
NM_000535.7(PMS2):c.1916G>C (p.Ser639Thr)
|
|
|
|
NM_000535.7(PMS2):c.1919A>G (p.Glu640Gly)
|
rs1782938849
|
|
|
NM_000535.7(PMS2):c.191A>G (p.Asp64Gly)
|
rs786203019
|
|
|
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val)
|
rs1554297114
|
|
|
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)
|
rs752772040
|
|
|
NM_000535.7(PMS2):c.1927C>G (p.Gln643Glu)
|
rs63751422
|
|
|
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)
|
rs786203075
|
|
|
NM_000535.7(PMS2):c.1936A>G (p.Arg646Gly)
|
rs369582237
|
|
|
NM_000535.7(PMS2):c.1936A>T (p.Arg646Trp)
|
rs369582237
|
|
|
NM_000535.7(PMS2):c.1937G>C (p.Arg646Thr)
|
rs372341850
|
|
|
NM_000535.7(PMS2):c.193C>A (p.Leu65Ile)
|
rs1562695468
|
|
|
NM_000535.7(PMS2):c.193C>G (p.Leu65Val)
|
rs1562695468
|
|
|
NM_000535.7(PMS2):c.1940A>G (p.Lys647Arg)
|
rs1554297100
|
|
|
NM_000535.7(PMS2):c.1941G>C (p.Lys647Asn)
|
rs2128720886
|
|
|
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val)
|
rs1782931972
|
|
|
NM_000535.7(PMS2):c.1944T>G (p.Phe648Leu)
|
rs144011908
|
|
|
NM_000535.7(PMS2):c.1948G>A (p.Ala650Thr)
|
rs1782930647
|
|
|
NM_000535.7(PMS2):c.1948G>C (p.Ala650Pro)
|
rs1782930647
|
|
|
NM_000535.7(PMS2):c.1948G>T (p.Ala650Ser)
|
|
|
|
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)
|
rs886062399
|
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
|
NM_000535.7(PMS2):c.1955T>A (p.Ile652Asn)
|
rs1554297091
|
|
|
NM_000535.7(PMS2):c.1957T>G (p.Cys653Gly)
|
rs267608162
|
|
|
NM_000535.7(PMS2):c.1958G>C (p.Cys653Ser)
|
rs1782927665
|
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
|
NM_000535.7(PMS2):c.1960C>A (p.Pro654Thr)
|
|
|
|
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
|
|
|
|
NM_000535.7(PMS2):c.1960C>T (p.Pro654Ser)
|
|
|
|
NM_000535.7(PMS2):c.1960_1961delinsTA (p.Pro654Tyr)
|
rs1782926608
|
|
|
NM_000535.7(PMS2):c.1961C>T (p.Pro654Leu)
|
rs779587825
|
|
|
NM_000535.7(PMS2):c.1964G>A (p.Gly655Glu)
|
rs1554297077
|
|
|
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys)
|
rs876658931
|
|
|
NM_000535.7(PMS2):c.196A>T (p.Ile66Phe)
|
rs1785423536
|
|
|
NM_000535.7(PMS2):c.1972C>G (p.Gln658Glu)
|
rs1172837844
|
|
|
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr)
|
rs786203095
|
|
|
NM_000535.7(PMS2):c.1978G>A (p.Ala660Thr)
|
|
|
|
NM_000535.7(PMS2):c.1978G>C (p.Ala660Pro)
|
|
|
|
NM_000535.7(PMS2):c.1981G>C (p.Glu661Gln)
|
|
|
|
NM_000535.7(PMS2):c.1984G>A (p.Asp662Asn)
|
rs1562625087
|
|
|
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val)
|
rs1320079782
|
|
|
NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys)
|
rs1554297061
|
|
|
NM_000535.7(PMS2):c.1989A>C (p.Glu663Asp)
|
rs1562625015
|
|
|
NM_000535.7(PMS2):c.1990C>G (p.Leu664Val)
|
|
|
|
NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)
|
|
|
|
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
|
|
|
|
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln)
|
rs587780045
|
|
|
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro)
|
rs1064793232
|
|
|
NM_000535.7(PMS2):c.2001G>C (p.Glu667Asp)
|
rs1562624926
|
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
|
NM_000535.7(PMS2):c.2004A>G (p.Ile668Met)
|
rs1583312840
|
|
|
NM_000535.7(PMS2):c.2005A>C (p.Ser669Arg)
|
rs1554297049
|
|
|
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys)
|
rs1554297049
|
|
|
NM_000535.7(PMS2):c.2006+3A>G
|
rs1064793866
|
|
|
NM_000535.7(PMS2):c.2006+5del
|
rs1782913891
|
|
|
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
|
|
|
|
NM_000535.7(PMS2):c.2006G>C (p.Ser669Thr)
|
rs1417552718
|
|
|
NM_000535.7(PMS2):c.2007-11_2007-7delinsCCTAT
|
|
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
|
NM_000535.7(PMS2):c.2007-7_2007-3delinsTCTGT
|
rs1782474044
|
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
|
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala)
|
rs876661087
|
|
|
NM_000535.7(PMS2):c.2012C>G (p.Thr671Arg)
|
rs587780046
|
|
|
NM_000535.7(PMS2):c.2015T>C (p.Met672Thr)
|
rs1554295972
|
|
|
NM_000535.7(PMS2):c.2016G>A (p.Met672Ile)
|
rs2128704802
|
|
|
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu)
|
rs1562616167
|
|
|
NM_000535.7(PMS2):c.2025A>C (p.Glu675Asp)
|
rs1057522947
|
|
|
NM_000535.7(PMS2):c.2025A>T (p.Glu675Asp)
|
rs1057522947
|
|
|
NM_000535.7(PMS2):c.2026A>G (p.Met676Val)
|
rs1554295955
|
|
|
NM_000535.7(PMS2):c.2028_2033del (p.Met676_Glu677del)
|
|
|
|
NM_000535.7(PMS2):c.2031A>C (p.Glu677Asp)
|
rs1782467652
|
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
|
NM_000535.7(PMS2):c.2037T>G (p.Ile679Met)
|
rs63751026
|
|
|
NM_000535.7(PMS2):c.203T>G (p.Val68Gly)
|
|
|
|
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del)
|
rs864622506
|
|
|
NM_000535.7(PMS2):c.2041C>A (p.Gln681Lys)
|
|
|
|
NM_000535.7(PMS2):c.2042A>G (p.Gln681Arg)
|
rs1782465326
|
|
|
NM_000535.7(PMS2):c.2042A>T (p.Gln681Leu)
|
rs1782465326
|
|
|
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
|
|
|
|
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)
|
rs876658953
|
|
|
NM_000535.7(PMS2):c.2047A>T (p.Asn683Tyr)
|
rs786202668
|
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
|
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg)
|
rs1583299418
|
|
|
NM_000535.7(PMS2):c.2054G>A (p.Gly685Glu)
|
rs1554295923
|
|
|
NM_000535.7(PMS2):c.2057T>A (p.Phe686Tyr)
|
|
|
|
NM_000535.7(PMS2):c.2057T>C (p.Phe686Ser)
|
rs2128704084
|
|
|
NM_000535.7(PMS2):c.2061A>G (p.Ile687Met)
|
rs1782461393
|
|
|
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu)
|
rs1060503144
|
|
|
NM_000535.7(PMS2):c.2065A>T (p.Thr689Ser)
|
|
|
|
NM_000535.7(PMS2):c.2066C>T (p.Thr689Ile)
|
rs1254554953
|
|
|
NM_000535.7(PMS2):c.2069A>G (p.Lys690Arg)
|
rs876661164
|
|
|
NM_000535.7(PMS2):c.206C>T (p.Ser69Leu)
|
rs730881914
|
|
|
NM_000535.7(PMS2):c.2072T>C (p.Leu691Pro)
|
rs1230422041
|
|
|
NM_000535.7(PMS2):c.2080G>C (p.Asp694His)
|
rs766478637
|
|
|
NM_000535.7(PMS2):c.2081A>G (p.Asp694Gly)
|
rs1554295876
|
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
|
NM_000535.7(PMS2):c.2083A>G (p.Ile695Val)
|
|
|
|
NM_000535.7(PMS2):c.2085C>G (p.Ile695Met)
|
rs757157176
|
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
|
NM_000535.7(PMS2):c.208G>C (p.Asp70His)
|
|
|
|
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
|
rs1583299036
|
|
|
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met)
|
rs1554295855
|
|
|
NM_000535.7(PMS2):c.2095G>A (p.Asp699Asn)
|
rs587781317
|
|
|
NM_000535.7(PMS2):c.2095G>T (p.Asp699Tyr)
|
|
|
|
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly)
|
rs878854043
|
|
|
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu)
|
rs1064793501
|
|
|
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly)
|
rs1554305000
|
|
|
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp)
|
rs587780048
|
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
|
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)
|
rs763866879
|
|
|
NM_000535.7(PMS2):c.2102A>C (p.His701Pro)
|
rs1583298873
|
|
|
NM_000535.7(PMS2):c.2102A>G (p.His701Arg)
|
rs1583298873
|
|
|
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr)
|
rs1554295821
|
|
|
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser)
|
rs1554295821
|
|
|
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu)
|
rs1554304997
|
|
|
NM_000535.7(PMS2):c.2110G>A (p.Asp704Asn)
|
|
|
|
NM_000535.7(PMS2):c.2110G>T (p.Asp704Tyr)
|
|
|
|
NM_000535.7(PMS2):c.2111A>G (p.Asp704Gly)
|
|
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
|
NM_000535.7(PMS2):c.2117_2131del (p.Lys706_Glu710del)
|
|
|
|
NM_000535.7(PMS2):c.2118G>C (p.Lys706Asn)
|
rs776238286
|
|
|
NM_000535.7(PMS2):c.2119T>C (p.Tyr707His)
|
rs1583298644
|
|
|
NM_000535.7(PMS2):c.211A>G (p.Asn71Asp)
|
|
|
|
NM_000535.7(PMS2):c.2120A>G (p.Tyr707Cys)
|
rs1554295795
|
|
|
NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)
|
|
|
|
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu)
|
rs199943748
|
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
|
NM_000535.7(PMS2):c.212A>T (p.Asn71Ile)
|
rs587780049
|
|
|
NM_000535.7(PMS2):c.2131A>G (p.Met711Val)
|
|
|
|
NM_000535.7(PMS2):c.2133G>A (p.Met711Ile)
|
rs2128702895
|
|
|
NM_000535.7(PMS2):c.2135T>C (p.Leu712Pro)
|
rs2128702863
|
|
|
NM_000535.7(PMS2):c.2137C>A (p.Gln713Lys)
|
rs876659900
|
|
|
NM_000535.7(PMS2):c.2139G>C (p.Gln713His)
|
|
|
|
NM_000535.7(PMS2):c.2140C>G (p.Gln714Glu)
|
|
|
|
NM_000535.7(PMS2):c.2141A>T (p.Gln714Leu)
|
rs1160860634
|
|
|
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)
|
rs747494931
|
|
|
NM_000535.7(PMS2):c.2144A>C (p.His715Pro)
|
rs773913260
|
|
|
NM_000535.7(PMS2):c.2144A>G (p.His715Arg)
|
rs773913260
|
|
|
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala)
|
rs772637411
|
|
|
NM_000535.7(PMS2):c.2149G>C (p.Val717Leu)
|
|
|
|
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro)
|
rs755117943
|
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
|
NM_000535.7(PMS2):c.2159G>A (p.Gly720Glu)
|
rs2128702406
|
|
|
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
|
rs730881915
|
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
|
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro)
|
rs1246922900
|
|
|
NM_000535.7(PMS2):c.216A>G (p.Gly72=)
|
rs568370805
|
|
|
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr)
|
rs1060503123
|
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
|
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr)
|
rs1303835934
|
|
|
NM_000535.7(PMS2):c.2173G>C (p.Ala725Pro)
|
rs1303835934
|
|
|
NM_000535.7(PMS2):c.2174+10T>G
|
|
|
|
NM_000535.7(PMS2):c.2174+3G>C
|
rs1400193171
|
|
|
NM_000535.7(PMS2):c.2174+6T>A
|
rs587780050
|
|
|
NM_000535.7(PMS2):c.2174+9G>T
|
rs1782431297
|
|
|
NM_000535.7(PMS2):c.2174C>A (p.Ala725Glu)
|
rs150630090
|
|
|
NM_000535.7(PMS2):c.2175-1024A>G
|
|
|
|
NM_000535.7(PMS2):c.2175-3C>T
|
rs1326163718
|
|
|
NM_000535.7(PMS2):c.2175-8T>A
|
rs774550382
|
|
|
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser)
|
rs1407555810
|
|
|
NM_000535.7(PMS2):c.2181G>C (p.Gln727His)
|
|
|
|
NM_000535.7(PMS2):c.2183C>T (p.Thr728Ile)
|
rs1781992282
|
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)
|
rs1326865470
|
|
|
NM_000535.7(PMS2):c.2190C>G (p.Asn730Lys)
|
|
|
|
NM_000535.7(PMS2):c.2193_2217delinsT (p.Leu731_Leu739delinsPhe)
|
rs1583285870
|
|
|
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala)
|
rs587781958
|
|
|
NM_000535.7(PMS2):c.2198C>T (p.Ala733Val)
|
|
|
|
NM_000535.7(PMS2):c.2200G>A (p.Val734Ile)
|
rs1467072152
|
|
|
NM_000535.7(PMS2):c.2200G>C (p.Val734Leu)
|
|
|
|
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp)
|
rs1554294476
|
|
|
NM_000535.7(PMS2):c.2207A>T (p.Glu736Val)
|
rs1060503115
|
|
|
NM_000535.7(PMS2):c.2209G>A (p.Ala737Thr)
|
rs1583285937
|
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
|
NM_000535.7(PMS2):c.2210C>A (p.Ala737Asp)
|
rs2128683245
|
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
|
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala)
|
rs1583285889
|
|
|
NM_000535.7(PMS2):c.2219T>G (p.Ile740Arg)
|
|
|
|
NM_000535.7(PMS2):c.221G>T (p.Gly74Val)
|
|
|
|
NM_000535.7(PMS2):c.2226T>A (p.Asn742Lys)
|
|
|
|
NM_000535.7(PMS2):c.2228T>C (p.Leu743Pro)
|
rs1583285757
|
|
|
NM_000535.7(PMS2):c.2228T>G (p.Leu743Arg)
|
rs1583285757
|
|
|
NM_000535.7(PMS2):c.2233A>C (p.Ile745Leu)
|
rs1562605133
|
|
|
NM_000535.7(PMS2):c.2233A>G (p.Ile745Val)
|
rs1562605133
|
|
|
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met)
|
rs1554294453
|
|
|
NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)
|
|
|
|
NM_000535.7(PMS2):c.2237T>A (p.Phe746Tyr)
|
|
|
|
NM_000535.7(PMS2):c.223G>A (p.Val75Ile)
|
rs1554304971
|
|
|
NM_000535.7(PMS2):c.223G>T (p.Val75Leu)
|
|
|
|
NM_000535.7(PMS2):c.2240G>T (p.Arg747Ile)
|
rs587782671
|
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
|
NM_000535.7(PMS2):c.2244G>C (p.Lys748Asn)
|
rs1443656360
|
|
|
NM_000535.7(PMS2):c.2244G>T (p.Lys748Asn)
|
rs1443656360
|
|
|
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp)
|
rs878854045
|
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
|
NM_000535.7(PMS2):c.2248G>A (p.Gly750Ser)
|
rs1781977133
|
|
|
NM_000535.7(PMS2):c.2249G>T (p.Gly750Val)
|
|
|
|
NM_000535.7(PMS2):c.224_232del (p.Val75_Glu77del)
|
rs1785415079
|
|
|
NM_000535.7(PMS2):c.2253_2255delinsCGC (p.Asp752Ala)
|
rs2128682292
|
|
|
NM_000535.7(PMS2):c.2253_2256delinsCGAA (p.Asp752Glu)
|
rs2128682246
|
|
|
NM_000535.7(PMS2):c.2256T>G (p.Asp752Glu)
|
|
|
|
NM_000535.7(PMS2):c.2258T>C (p.Phe753Ser)
|
|
|
|
NM_000535.7(PMS2):c.2259_2264del (p.Val754_Ile755del)
|
rs2128682119
|
|
|
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile)
|
rs876658822
|
|
|
NM_000535.7(PMS2):c.2260G>C (p.Val754Leu)
|
rs876658822
|
|
|
NM_000535.7(PMS2):c.2264T>A (p.Ile755Asn)
|
rs386833410
|
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
|
NM_000535.7(PMS2):c.2267A>G (p.Asp756Gly)
|
rs1554294409
|
|
|
NM_000535.7(PMS2):c.2267A>T (p.Asp756Val)
|
rs1554294409
|
|
|
NM_000535.7(PMS2):c.2268T>A (p.Asp756Glu)
|
rs1060503119
|
|
|
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del)
|
rs386833411
|
|
|
NM_000535.7(PMS2):c.2270A>C (p.Glu757Ala)
|
rs1554294402
|
|
|
NM_000535.7(PMS2):c.2275+11A>T
|
rs983422739
|
|
|
NM_000535.7(PMS2):c.2275+5G>C
|
rs1583285249
|
|
|
NM_000535.7(PMS2):c.2275G>C (p.Ala759Pro)
|
rs1554294396
|
|
|
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser)
|
rs1554294396
|
|
|
NM_000535.7(PMS2):c.2276-16A>G
|
|
|
|
NM_000535.7(PMS2):c.2276-17A>G
|
rs1057523755
|
|
|
NM_000535.7(PMS2):c.2276-3T>C
|
rs1583281760
|
|
|
NM_000535.7(PMS2):c.2276C>A (p.Ala759Asp)
|
rs1219434769
|
|
|
NM_000535.7(PMS2):c.2276C>T (p.Ala759Val)
|
rs1219434769
|
|
|
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser)
|
rs763468927
|
|
|
NM_000535.7(PMS2):c.2279C>A (p.Pro760Gln)
|
|
|
|
NM_000535.7(PMS2):c.2279C>T (p.Pro760Leu)
|
|
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
|
NM_000535.7(PMS2):c.2291G>A (p.Arg764Lys)
|
rs1583281502
|
|
|
NM_000535.7(PMS2):c.2293G>C (p.Ala765Pro)
|
rs2128675666
|
|
|
NM_000535.7(PMS2):c.2294C>G (p.Ala765Gly)
|
rs1295232723
|
|
|
NM_000535.7(PMS2):c.22A>G (p.Ser8Gly)
|
|
|
|
NM_000535.7(PMS2):c.23+3G>T
|
rs1408475000
|
|
|
NM_000535.7(PMS2):c.23+4A>C
|
rs1583435174
|
|
|
NM_000535.7(PMS2):c.23+7G>T
|
rs878854047
|
|
|
NM_000535.7(PMS2):c.2300T>A (p.Leu767Gln)
|
|
|
|
NM_000535.7(PMS2):c.2300T>C (p.Leu767Pro)
|
rs1781853056
|
|
|
NM_000535.7(PMS2):c.2300T>G (p.Leu767Arg)
|
rs1781853056
|
|
|
NM_000535.7(PMS2):c.2302A>T (p.Ile768Phe)
|
rs2128675445
|
|
|
NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)
|
|
|
|
NM_000535.7(PMS2):c.2305T>C (p.Ser769Pro)
|
|
|
|
NM_000535.7(PMS2):c.2306C>G (p.Ser769Cys)
|
|
|
|
NM_000535.7(PMS2):c.230A>G (p.Glu77Gly)
|
|
|
|
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
|
rs1583281360
|
|
|
NM_000535.7(PMS2):c.2311C>T (p.Pro771Ser)
|
rs2128675272
|
|
|
NM_000535.7(PMS2):c.2312C>A (p.Pro771Gln)
|
|
|
|
NM_000535.7(PMS2):c.2312C>T (p.Pro771Leu)
|
rs759653526
|
|
|
NM_000535.7(PMS2):c.2314A>C (p.Thr772Pro)
|
|
|
|
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
|
|
|
|
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile)
|
rs1781849852
|
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
|
NM_000535.7(PMS2):c.2318G>C (p.Ser773Thr)
|
|
|
|
NM_000535.7(PMS2):c.2319T>G (p.Ser773Arg)
|
|
|
|
NM_000535.7(PMS2):c.2324A>T (p.Asn775Ile)
|
rs17420802
|
|
|
NM_000535.7(PMS2):c.2324_2328delinsGCTGT (p.Asn775_Trp776delinsSerCys)
|
|
|
|
NM_000535.7(PMS2):c.2328G>C (p.Trp776Cys)
|
|
|
|
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln)
|
rs1785414812
|
|
|
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser)
|
rs777728316
|
|
|
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile)
|
rs777728316
|
|
|
NM_000535.7(PMS2):c.2334C>A (p.Phe778Leu)
|
|
|
|
NM_000535.7(PMS2):c.2335G>C (p.Gly779Arg)
|
|
|
|
NM_000535.7(PMS2):c.2336G>C (p.Gly779Ala)
|
rs1562601675
|
|
|
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser)
|
rs1064796041
|
|
|
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly)
|
rs2128829529
|
|
|
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys)
|
rs587780054
|
|
|
NM_000535.7(PMS2):c.2345A>T (p.Asp782Val)
|
rs745500014
|
|
|
NM_000535.7(PMS2):c.2345_2347del (p.Asp782del)
|
rs1554293941
|
|
|
NM_000535.7(PMS2):c.2347G>T (p.Val783Phe)
|
rs553286217
|
|
|
NM_000535.7(PMS2):c.2350G>C (p.Asp784His)
|
|
|
|
NM_000535.7(PMS2):c.2357T>C (p.Leu786Pro)
|
|
|
|
NM_000535.7(PMS2):c.2360T>A (p.Ile787Asn)
|
rs1781837155
|
|
|
NM_000535.7(PMS2):c.2360T>C (p.Ile787Thr)
|
|
|
|
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met)
|
rs1064794923
|
|
|
NM_000535.7(PMS2):c.2365A>G (p.Met789Val)
|
rs377259633
|
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
|
NM_000535.7(PMS2):c.2367G>C (p.Met789Ile)
|
|
|
|
NM_000535.7(PMS2):c.2369T>A (p.Leu790Gln)
|
|
|
|
NM_000535.7(PMS2):c.2372G>A (p.Ser791Asn)
|
rs2128673461
|
|
|
NM_000535.7(PMS2):c.2372G>C (p.Ser791Thr)
|
rs2128673461
|
|
|
NM_000535.7(PMS2):c.2373C>G (p.Ser791Arg)
|
rs864622765
|
|
|
NM_000535.7(PMS2):c.2377A>G (p.Ser793Gly)
|
rs1781833468
|
|
|
NM_000535.7(PMS2):c.2378G>A (p.Ser793Asn)
|
rs1583280432
|
|
|
NM_000535.7(PMS2):c.2379C>A (p.Ser793Arg)
|
rs1554293887
|
|
|
NM_000535.7(PMS2):c.237C>G (p.Asn79Lys)
|
|
|
|
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
|
rs773393960
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
|
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg)
|
rs876659030
|
|
|
NM_000535.7(PMS2):c.2383G>A (p.Gly795Arg)
|
rs1423733655
|
|
|
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu)
|
rs786203838
|
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
|
NM_000535.7(PMS2):c.2390T>A (p.Met797Lys)
|
rs267608152
|
|
|
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr)
|
rs267608152
|
|
|
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile)
|
rs1554293841
|
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
|
NM_000535.7(PMS2):c.2393G>A (p.Cys798Tyr)
|
rs2128672830
|
|
|
NM_000535.7(PMS2):c.2394C>G (p.Cys798Trp)
|
|
|
|
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu)
|
rs200629542
|
|
|
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys)
|
rs1064795697
|
|
|
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn)
|
rs1352544158
|
|
|
NM_000535.7(PMS2):c.24-14A>G
|
rs2128847501
|
|
|
NM_000535.7(PMS2):c.2404C>G (p.Arg802Gly)
|
|
|
|
NM_000535.7(PMS2):c.2405G>C (p.Arg802Pro)
|
|
|
|
NM_000535.7(PMS2):c.2407G>A (p.Val803Ile)
|
rs745614929
|
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
|
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu)
|
rs143162541
|
|
|
NM_000535.7(PMS2):c.2416A>G (p.Met806Val)
|
rs1554293792
|
|
|
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu)
|
rs1554293792
|
|
|
NM_000535.7(PMS2):c.2417T>C (p.Met806Thr)
|
rs1781820682
|
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
|
NM_000535.7(PMS2):c.241G>C (p.Glu81Gln)
|
rs730881919
|
|
|
NM_000535.7(PMS2):c.2422G>C (p.Ala808Pro)
|
rs1306035279
|
|
|
NM_000535.7(PMS2):c.2426C>G (p.Ser809Cys)
|
|
|
|
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe)
|
rs1583279643
|
|
|
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly)
|
rs1781818536
|
|
|
NM_000535.7(PMS2):c.2429G>A (p.Arg810Lys)
|
rs535705597
|
|
|
NM_000535.7(PMS2):c.2429G>C (p.Arg810Thr)
|
rs535705597
|
|
|
NM_000535.7(PMS2):c.2429G>T (p.Arg810Ile)
|
|
|
|
NM_000535.7(PMS2):c.2430A>T (p.Arg810Ser)
|
rs1583279606
|
|
|
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val)
|
rs1387206284
|
|
|
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr)
|
rs876661116
|
|
|
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe)
|
rs876661116
|
|
|
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)
|
rs375968016
|
|
|
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)
|
rs587782665
|
|
|
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
|
|
|
|
NM_000535.7(PMS2):c.2445+3A>G
|
|
|
|
NM_000535.7(PMS2):c.2445+5G>C
|
rs1583279335
|
|
|
NM_000535.7(PMS2):c.2445+6T>C
|
rs1170182390
|
|
|
NM_000535.7(PMS2):c.2445G>C (p.Ser815=)
|
|
|
|
NM_000535.7(PMS2):c.2446-10T>G
|
|
|
|
NM_000535.7(PMS2):c.2446-16T>C
|
|
|
|
NM_000535.7(PMS2):c.2446-2A>C
|
rs886039709
|
|
|
NM_000535.7(PMS2):c.2446-3C>T
|
rs1781512229
|
|
|
NM_000535.7(PMS2):c.2446-5C>G
|
rs864622279
|
|
|
NM_000535.7(PMS2):c.2446G>A (p.Val816Met)
|
|
|
|
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
|
|
|
|
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu)
|
rs876659479
|
|
|
NM_000535.7(PMS2):c.2447T>G (p.Val816Gly)
|
rs1060503140
|
|
|
NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del)
|
rs1781510137
|
|
|
NM_000535.7(PMS2):c.2449A>G (p.Met817Val)
|
|
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
|
NM_000535.7(PMS2):c.2452A>T (p.Ile818Phe)
|
rs2128659230
|
|
|
NM_000535.7(PMS2):c.2455G>A (p.Gly819Arg)
|
|
|
|
NM_000535.7(PMS2):c.2456G>T (p.Gly819Val)
|
|
|
|
NM_000535.7(PMS2):c.2459C>A (p.Thr820Asn)
|
rs1583270329
|
|
|
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)
|
rs2128658992
|
|
|
NM_000535.7(PMS2):c.2462_2466delinsGTCTC (p.Ala821Gly)
|
|
|
|
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val)
|
rs1554292873
|
|
|
NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)
|
|
|
|
NM_000535.7(PMS2):c.2470A>G (p.Thr824Ala)
|
rs1583270215
|
|
|
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys)
|
rs1354323014
|
|
|
NM_000535.7(PMS2):c.2471C>G (p.Thr824Arg)
|
rs1354323014
|
|
|
NM_000535.7(PMS2):c.2474G>A (p.Ser825Asn)
|
rs1562594318
|
|
|
NM_000535.7(PMS2):c.2475C>G (p.Ser825Arg)
|
|
|
|
NM_000535.7(PMS2):c.2475C>T (p.Ser825=)
|
rs776460258
|
|
|
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp)
|
rs1562594255
|
|
|
NM_000535.7(PMS2):c.2479A>G (p.Met827Val)
|
rs876659537
|
|
|
NM_000535.7(PMS2):c.2483A>C (p.Lys828Thr)
|
|
|
|
NM_000535.7(PMS2):c.2483A>G (p.Lys828Arg)
|
rs1583270024
|
|
|
NM_000535.7(PMS2):c.2484G>T (p.Lys828Asn)
|
rs1583269995
|
|
|
NM_000535.7(PMS2):c.2485A>C (p.Lys829Gln)
|
|
|
|
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)
|
rs1781502574
|
|
|
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val)
|
rs876661221
|
|
|
NM_000535.7(PMS2):c.2491A>T (p.Ile831Phe)
|
|
|
|
NM_000535.7(PMS2):c.2495C>G (p.Thr832Ser)
|
|
|
|
NM_000535.7(PMS2):c.2497C>G (p.His833Asp)
|
rs777470381
|
|
|
NM_000535.7(PMS2):c.2499C>G (p.His833Gln)
|
rs876659564
|
|
|
NM_000535.7(PMS2):c.24T>C (p.Ser8=)
|
rs1554306620
|
|
|
NM_000535.7(PMS2):c.24T>G (p.Ser8Arg)
|
|
|
|
NM_000535.7(PMS2):c.250+3A>C
|
|
|
|
NM_000535.7(PMS2):c.250+4A>C
|
|
|
|
NM_000535.7(PMS2):c.250+4A>G
|
rs1554304934
|
|
|
NM_000535.7(PMS2):c.250+5G>A
|
rs1458809226
|
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
|
NM_000535.7(PMS2):c.250+6T>G
|
rs1583410029
|
|
|
NM_000535.7(PMS2):c.2500A>C (p.Met834Leu)
|
rs1554292828
|
|
|
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
|
|
|
|
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu)
|
rs1554292828
|
|
|
NM_000535.7(PMS2):c.2501T>A (p.Met834Lys)
|
|
|
|
NM_000535.7(PMS2):c.2502G>C (p.Met834Ile)
|
rs1554292818
|
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
|
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu)
|
rs1454373685
|
|
|
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
|
|
|
|
NM_000535.7(PMS2):c.2509A>T (p.Met837Leu)
|
rs1583269633
|
|
|
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro)
|
rs1554304938
|
|
|
NM_000535.7(PMS2):c.251-10T>A
|
rs1554304817
|
|
|
NM_000535.7(PMS2):c.251-11C>G
|
rs761795058
|
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
|
NM_000535.7(PMS2):c.251-5T>C
|
|
|
|
NM_000535.7(PMS2):c.251-5T>G
|
rs2128827794
|
|
|
NM_000535.7(PMS2):c.251-6_251-3del
|
rs2128827769
|
|
|
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile)
|
rs1554292802
|
|
|
NM_000535.7(PMS2):c.2513A>G (p.Asp838Gly)
|
rs1029895711
|
|
|
NM_000535.7(PMS2):c.2516A>G (p.His839Arg)
|
rs1562593924
|
|
|
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser)
|
rs1562593877
|
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
|
NM_000535.7(PMS2):c.2521T>C (p.Trp841Arg)
|
rs1781493914
|
|
|
NM_000535.7(PMS2):c.2526C>A (p.Asn842Lys)
|
rs755478893
|
|
|
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg)
|
rs1554292753
|
|
|
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr)
|
rs267608174
|
|
|
NM_000535.7(PMS2):c.2528G>T (p.Cys843Phe)
|
|
|
|
NM_000535.7(PMS2):c.2529T>A (p.Cys843Ter)
|
|
|
|
NM_000535.7(PMS2):c.2530C>A (p.Pro844Thr)
|
rs1781490910
|
|
|
NM_000535.7(PMS2):c.2530C>G (p.Pro844Ala)
|
rs1781490910
|
|
|
NM_000535.7(PMS2):c.2530C>T (p.Pro844Ser)
|
rs1781490910
|
|
|
NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg)
|
rs587782787
|
|
|
NM_000535.7(PMS2):c.2533C>G (p.His845Asp)
|
rs1781489538
|
|
|
NM_000535.7(PMS2):c.2534A>C (p.His845Pro)
|
rs1554292741
|
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
|
NM_000535.7(PMS2):c.253C>G (p.Leu85Val)
|
rs1554304801
|
|
|
NM_000535.7(PMS2):c.2540G>C (p.Arg847Thr)
|
rs1583269177
|
|
|
NM_000535.7(PMS2):c.2541del (p.Arg847fs)
|
|
|
|
NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)
|
|
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
|
NM_000535.7(PMS2):c.2545A>T (p.Thr849Ser)
|
|
|
|
NM_000535.7(PMS2):c.2546C>G (p.Thr849Ser)
|
rs876660627
|
|
|
NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile)
|
rs876660627
|
|
|
NM_000535.7(PMS2):c.2548A>G (p.Met850Val)
|
|
|
|
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
|
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
|
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs)
|
rs1064792975
|
|
|
NM_000535.7(PMS2):c.2551A>G (p.Arg851Gly)
|
rs1781485917
|
|
|
NM_000535.7(PMS2):c.2552G>A (p.Arg851Lys)
|
|
|
|
NM_000535.7(PMS2):c.2552G>C (p.Arg851Thr)
|
rs2128657167
|
|
|
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr)
|
rs754350493
|
|
|
NM_000535.7(PMS2):c.2555dup (p.His852fs)
|
rs2128657099
|
|
|
NM_000535.7(PMS2):c.2556C>A (p.His852Gln)
|
rs1583269042
|
|
|
NM_000535.7(PMS2):c.2556C>G (p.His852Gln)
|
rs1583269042
|
|
|
NM_000535.7(PMS2):c.2557A>G (p.Ile853Val)
|
rs1188808116
|
|
|
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro)
|
rs574371474
|
|
|
NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser)
|
rs574371474
|
|
|
NM_000535.7(PMS2):c.2569G>A (p.Gly857Ser)
|
rs750820328
|
|
|
NM_000535.7(PMS2):c.2569_2570inv (p.Gly857Pro)
|
|
|
|
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln)
|
rs544441867
|
|
|
NM_000535.7(PMS2):c.256A>G (p.Lys86Glu)
|
|
|
|
NM_000535.7(PMS2):c.2570G>T (p.Gly857Val)
|
rs1802683
|
|
|
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile)
|
rs368036201
|
|
|
NM_000535.7(PMS2):c.2575A>C (p.Ile859Leu)
|
|
|
|
NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys)
|
rs1583268744
|
|
|
NM_000535.7(PMS2):c.2582A>G (p.Gln861Arg)
|
|
|
|
NM_000535.7(PMS2):c.2585A>G (p.Asn862Ser)
|
rs2128656594
|
|
|
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)
|
rs1060503124
|
|
|
NM_000535.7(PMS2):c.2588G>T (p.Ter863Leu)
|
rs1554292688
|
|
|
NM_000535.7(PMS2):c.2589A>G (p.Ter863Trp)
|
rs1781477892
|
|
|
NM_000535.7(PMS2):c.2589_*12del (p.Ter863CysextTer?)
|
rs1781476068
|
|
|
NM_000535.7(PMS2):c.259C>T (p.His87Tyr)
|
|
|
|
NM_000535.7(PMS2):c.260A>G (p.His87Arg)
|
rs1340959686
|
|
|
NM_000535.7(PMS2):c.262C>T (p.His88Tyr)
|
|
|
|
NM_000535.7(PMS2):c.263A>G (p.His88Arg)
|
rs1554304774
|
|
|
NM_000535.7(PMS2):c.266C>T (p.Thr89Ile)
|
rs1275124814
|
|
|
NM_000535.7(PMS2):c.269C>A (p.Ser90Tyr)
|
rs770678468
|
|
|
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys)
|
rs770678468
|
|
|
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile)
|
rs1210073386
|
|
|
NM_000535.7(PMS2):c.271A>G (p.Lys91Glu)
|
rs1785382109
|
|
|
NM_000535.7(PMS2):c.272A>G (p.Lys91Arg)
|
rs1583408934
|
|
|
NM_000535.7(PMS2):c.274A>G (p.Ile92Val)
|
rs1333262869
|
|
|
NM_000535.7(PMS2):c.274A>T (p.Ile92Phe)
|
rs1333262869
|
|
|
NM_000535.7(PMS2):c.275T>G (p.Ile92Ser)
|
rs1554304738
|
|
|
NM_000535.7(PMS2):c.276T>G (p.Ile92Met)
|
|
|
|
NM_000535.7(PMS2):c.278A>G (p.Gln93Arg)
|
rs1785380060
|
|
|
NM_000535.7(PMS2):c.27A>G (p.Thr9=)
|
|
|
|
NM_000535.7(PMS2):c.280G>A (p.Glu94Lys)
|
rs1583408872
|
|
|
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu)
|
rs1554304717
|
|
|
NM_000535.7(PMS2):c.284T>A (p.Phe95Tyr)
|
|
|
|
NM_000535.7(PMS2):c.285T>G (p.Phe95Leu)
|
rs1583408820
|
|
|
NM_000535.7(PMS2):c.286G>A (p.Ala96Thr)
|
rs772740220
|
|
|
NM_000535.7(PMS2):c.289G>C (p.Asp97His)
|
rs1395998044
|
|
|
NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr)
|
rs1395998044
|
|
|
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu)
|
rs878854049
|
|
|
NM_000535.7(PMS2):c.291C>G (p.Asp97Glu)
|
|
|
|
NM_000535.7(PMS2):c.296C>G (p.Thr99Ser)
|
rs786202835
|
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
|
NM_000535.7(PMS2):c.298C>G (p.Gln100Glu)
|
rs1554304696
|
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
|
NM_000535.7(PMS2):c.299A>T (p.Gln100Leu)
|
rs747771951
|
|
|
NM_000535.7(PMS2):c.299_301del (p.Gln100_Val101delinsLeu)
|
|
|
|
NM_000535.7(PMS2):c.29A>T (p.Glu10Val)
|
rs878854050
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.300G>C (p.Gln100His)
|
rs1064794102
|
|
|
NM_000535.7(PMS2):c.301G>C (p.Val101Leu)
|
|
|
|
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
|
|
|
|
NM_000535.7(PMS2):c.308C>G (p.Thr103Ser)
|
|
|
|
NM_000535.7(PMS2):c.308C>T (p.Thr103Ile)
|
rs1562693788
|
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
|
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu)
|
rs1554304677
|
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
|
NM_000535.7(PMS2):c.311T>G (p.Phe104Cys)
|
rs876660295
|
|
|
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg)
|
rs1554304666
|
|
|
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp)
|
rs876659413
|
|
|
NM_000535.7(PMS2):c.314G>C (p.Gly105Ala)
|
rs876659413
|
|
|
NM_000535.7(PMS2):c.314G>T (p.Gly105Val)
|
|
|
|
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala)
|
rs1554306608
|
|
|
NM_000535.7(PMS2):c.31C>T (p.Pro11Ser)
|
rs1554306608
|
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
|
NM_000535.7(PMS2):c.322G>A (p.Gly108Arg)
|
|
|
|
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp)
|
rs750866397
|
|
|
NM_000535.7(PMS2):c.323G>T (p.Gly108Val)
|
rs1785369293
|
|
|
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys)
|
rs63749862
|
|
|
NM_000535.7(PMS2):c.326A>G (p.Glu109Gly)
|
rs1785367984
|
|
|
NM_000535.7(PMS2):c.329C>T (p.Ala110Val)
|
|
|
|
NM_000535.7(PMS2):c.331C>G (p.Leu111Val)
|
rs864622232
|
|
|
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro)
|
rs1554304623
|
|
|
NM_000535.7(PMS2):c.334A>G (p.Ser112Gly)
|
rs1254565992
|
|
|
NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)
|
|
|
|
NM_000535.7(PMS2):c.335G>C (p.Ser112Thr)
|
rs1219157493
|
|
|
NM_000535.7(PMS2):c.343T>A (p.Cys115Ser)
|
rs1290792398
|
|
|
NM_000535.7(PMS2):c.343T>C (p.Cys115Arg)
|
rs1290792398
|
|
|
NM_000535.7(PMS2):c.343T>G (p.Cys115Gly)
|
|
|
|
NM_000535.7(PMS2):c.346G>C (p.Ala116Pro)
|
|
|
|
NM_000535.7(PMS2):c.346G>T (p.Ala116Ser)
|
rs751799116
|
|
|
NM_000535.7(PMS2):c.347C>T (p.Ala116Val)
|
rs1554304601
|
|
|
NM_000535.7(PMS2):c.349C>A (p.Leu117Met)
|
rs1554304592
|
|
|
NM_000535.7(PMS2):c.349C>G (p.Leu117Val)
|
rs1554304592
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
|
NM_000535.7(PMS2):c.353+4del
|
rs1785360310
|
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
|
NM_000535.7(PMS2):c.354-14G>T
|
rs1785236527
|
|
|
NM_000535.7(PMS2):c.354-15G>T
|
rs1250216615
|
|
|
NM_000535.7(PMS2):c.354-3C>G
|
rs587782632
|
|
|
NM_000535.7(PMS2):c.354-7C>A
|
rs758471869
|
|
|
NM_000535.7(PMS2):c.354-7C>G
|
rs758471869
|
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
|
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly)
|
rs2128819431
|
|
|
NM_000535.7(PMS2):c.359T>C (p.Val120Ala)
|
rs1060503139
|
|
|
NM_000535.7(PMS2):c.35C>A (p.Ala12Asp)
|
|
|
|
NM_000535.7(PMS2):c.35C>T (p.Ala12Val)
|
rs1562702377
|
|
|
NM_000535.7(PMS2):c.364A>G (p.Ile122Val)
|
rs761748894
|
|
|
NM_000535.7(PMS2):c.364A>T (p.Ile122Phe)
|
rs761748894
|
|
|
NM_000535.7(PMS2):c.368C>G (p.Ser123Cys)
|
rs1562690595
|
|
|
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala)
|
rs1554304105
|
|
|
NM_000535.7(PMS2):c.371C>A (p.Thr124Asn)
|
rs1034709810
|
|
|
NM_000535.7(PMS2):c.371C>T (p.Thr124Ile)
|
rs1034709810
|
|
|
NM_000535.7(PMS2):c.376C>G (p.His126Asp)
|
rs774135207
|
|
|
NM_000535.7(PMS2):c.376C>T (p.His126Tyr)
|
rs774135207
|
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
|
NM_000535.7(PMS2):c.379G>C (p.Ala127Pro)
|
|
|
|
NM_000535.7(PMS2):c.379G>T (p.Ala127Ser)
|
|
|
|
NM_000535.7(PMS2):c.37A>G (p.Lys13Glu)
|
|
|
|
NM_000535.7(PMS2):c.380C>G (p.Ala127Gly)
|
|
|
|
NM_000535.7(PMS2):c.380C>T (p.Ala127Val)
|
|
|
|
NM_000535.7(PMS2):c.382T>C (p.Ser128Pro)
|
rs1562690462
|
|
|
NM_000535.7(PMS2):c.385G>A (p.Ala129Thr)
|
rs1785227712
|
|
|
NM_000535.7(PMS2):c.391G>T (p.Val131Phe)
|
rs1583403963
|
|
|
NM_000535.7(PMS2):c.394G>A (p.Gly132Arg)
|
|
|
|
NM_000535.7(PMS2):c.398C>A (p.Thr133Asn)
|
rs1064794097
|
|
|
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)
|
rs1064794097
|
|
|
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln)
|
rs771300829
|
|
|
NM_000535.7(PMS2):c.403C>A (p.Leu135Met)
|
|
|
|
NM_000535.7(PMS2):c.404T>C (p.Leu135Pro)
|
rs2128818545
|
|
|
NM_000535.7(PMS2):c.406A>C (p.Met136Leu)
|
rs35690297
|
|
|
NM_000535.7(PMS2):c.406A>T (p.Met136Leu)
|
rs35690297
|
|
|
NM_000535.7(PMS2):c.407T>A (p.Met136Lys)
|
|
|
|
NM_000535.7(PMS2):c.407T>C (p.Met136Thr)
|
rs1554304050
|
|
|
NM_000535.7(PMS2):c.408G>T (p.Met136Ile)
|
|
|
|
NM_000535.7(PMS2):c.409T>G (p.Phe137Val)
|
rs1060503141
|
|
|
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser)
|
rs876661039
|
|
|
NM_000535.7(PMS2):c.415C>G (p.His139Asp)
|
|
|
|
NM_000535.7(PMS2):c.415C>T (p.His139Tyr)
|
rs1554304032
|
|
|
NM_000535.7(PMS2):c.416A>G (p.His139Arg)
|
rs876658142
|
|
|
NM_000535.7(PMS2):c.417C>A (p.His139Gln)
|
rs876659919
|
|
|
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser)
|
rs876661103
|
|
|
NM_000535.7(PMS2):c.41C>G (p.Ala14Gly)
|
rs750524554
|
|
|
NM_000535.7(PMS2):c.41C>T (p.Ala14Val)
|
rs750524554
|
|
|
NM_000535.7(PMS2):c.420T>A (p.Asn140Lys)
|
|
|
|
NM_000535.7(PMS2):c.422G>A (p.Gly141Glu)
|
rs376931673
|
|
|
NM_000535.7(PMS2):c.425A>T (p.Lys142Ile)
|
rs2128818151
|
|
|
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn)
|
rs1785218841
|
|
|
NM_000535.7(PMS2):c.427A>G (p.Ile143Val)
|
rs1785218471
|
|
|
NM_000535.7(PMS2):c.429T>G (p.Ile143Met)
|
|
|
|
NM_000535.7(PMS2):c.430A>G (p.Ile144Val)
|
rs876659055
|
|
|
NM_000535.7(PMS2):c.431T>C (p.Ile144Thr)
|
rs2128818030
|
|
|
NM_000535.7(PMS2):c.436A>G (p.Lys146Glu)
|
rs1785215412
|
|
|
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
|
rs1583403496
|
|
|
NM_000535.7(PMS2):c.439A>G (p.Thr147Ala)
|
rs1583403496
|
|
|
NM_000535.7(PMS2):c.43A>G (p.Ile15Val)
|
rs878854051
|
|
|
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn)
|
rs1554304012
|
|
|
NM_000535.7(PMS2):c.440C>T (p.Thr147Ile)
|
|
|
|
NM_000535.7(PMS2):c.442C>T (p.Pro148Ser)
|
rs1554304009
|
|
|
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn)
|
rs890029950
|
|
|
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)
|
rs1554304003
|
|
|
NM_000535.7(PMS2):c.446A>G (p.Tyr149Cys)
|
|
|
|
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser)
|
rs1060503120
|
|
|
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg)
|
rs778119115
|
|
|
NM_000535.7(PMS2):c.451C>A (p.Arg151Ser)
|
|
|
|
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)
|
rs758561884
|
|
|
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro)
|
rs35629870
|
|
|
NM_000535.7(PMS2):c.454C>A (p.Pro152Thr)
|
rs2128817422
|
|
|
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly)
|
rs779013546
|
|
|
NM_000535.7(PMS2):c.464C>T (p.Thr155Ile)
|
rs2128817131
|
|
|
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro)
|
rs786204206
|
|
|
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile)
|
rs1554303953
|
|
|
NM_000535.7(PMS2):c.469G>A (p.Val157Ile)
|
rs1554303946
|
|
|
NM_000535.7(PMS2):c.471C>A (p.Val157=)
|
rs878854052
|
|
|
NM_000535.7(PMS2):c.472A>G (p.Ser158Gly)
|
rs1554303942
|
|
|
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys)
|
rs1554303942
|
|
|
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn)
|
rs750354871
|
|
|
NM_000535.7(PMS2):c.474C>G (p.Ser158Arg)
|
rs767414243
|
|
|
NM_000535.7(PMS2):c.475G>C (p.Val159Leu)
|
rs142416537
|
|
|
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)
|
rs142416537
|
|
|
NM_000535.7(PMS2):c.478C>A (p.Gln160Lys)
|
rs36038802
|
|
|
NM_000535.7(PMS2):c.47A>C (p.Lys16Thr)
|
|
|
|
NM_000535.7(PMS2):c.47A>T (p.Lys16Ile)
|
|
|
|
NM_000535.7(PMS2):c.480G>C (p.Gln160His)
|
|
|
|
NM_000535.7(PMS2):c.480G>T (p.Gln160His)
|
rs1426242773
|
|
|
NM_000535.7(PMS2):c.482A>C (p.Gln161Pro)
|
rs1554303917
|
|
|
NM_000535.7(PMS2):c.484T>A (p.Leu162Ile)
|
rs1554303909
|
|
|
NM_000535.7(PMS2):c.486A>C (p.Leu162Phe)
|
rs1479722146
|
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
|
NM_000535.7(PMS2):c.493A>G (p.Thr165Ala)
|
rs1554303902
|
|
|
NM_000535.7(PMS2):c.499C>G (p.Pro167Ala)
|
rs2128816325
|
|
|
NM_000535.7(PMS2):c.499C>T (p.Pro167Ser)
|
|
|
|
NM_000535.7(PMS2):c.49C>G (p.Pro17Ala)
|
rs552819358
|
|
|
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln)
|
rs1554309080
|
|
|
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg)
|
rs1554303894
|
|
|
NM_000535.7(PMS2):c.500C>T (p.Pro167Leu)
|
rs1554303894
|
|
|
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys)
|
rs730881916
|
|
|
NM_000535.7(PMS2):c.506G>T (p.Arg169Leu)
|
rs730881917
|
|
|
NM_000535.7(PMS2):c.508C>A (p.His170Asn)
|
rs876661152
|
|
|
NM_000535.7(PMS2):c.509A>G (p.His170Arg)
|
rs1583402418
|
|
|
NM_000535.7(PMS2):c.50C>G (p.Pro17Arg)
|
|
|
|
NM_000535.7(PMS2):c.515A>T (p.Glu172Val)
|
|
|
|
NM_000535.7(PMS2):c.516A>T (p.Glu172Asp)
|
rs1785191843
|
|
|
NM_000535.7(PMS2):c.520C>G (p.Gln174Glu)
|
|
|
|
NM_000535.7(PMS2):c.521A>C (p.Gln174Pro)
|
|
|
|
NM_000535.7(PMS2):c.524G>A (p.Arg175Lys)
|
rs1562688735
|
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
|
NM_000535.7(PMS2):c.525G>T (p.Arg175Ser)
|
rs1554303870
|
|
|
NM_000535.7(PMS2):c.526A>G (p.Asn176Asp)
|
rs1583402212
|
|
|
NM_000535.7(PMS2):c.527A>T (p.Asn176Ile)
|
rs1785189018
|
|
|
NM_000535.7(PMS2):c.52A>T (p.Ile18Phe)
|
rs63750123
|
|
|
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr)
|
rs769312937
|
|
|
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)
|
rs863224679
|
|
|
NM_000535.7(PMS2):c.532AAG[1] (p.Lys179del)
|
rs876661092
|
|
|
NM_000535.7(PMS2):c.534G>C (p.Lys178Asn)
|
|
|
|
NM_000535.7(PMS2):c.534G>T (p.Lys178Asn)
|
rs1288953417
|
|
|
NM_000535.7(PMS2):c.536A>T (p.Lys179Met)
|
|
|
|
NM_000535.7(PMS2):c.537+3A>G
|
rs876659939
|
|
|
NM_000535.7(PMS2):c.537+4C>G
|
rs864622272
|
|
|
NM_000535.7(PMS2):c.537+5A>G
|
rs1562688519
|
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
|
NM_000535.7(PMS2):c.538-14T>C
|
|
|
|
NM_000535.7(PMS2):c.538-3C>G
|
rs1554302546
|
|
|
NM_000535.7(PMS2):c.538-4A>G
|
|
|
|
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln)
|
rs876660198
|
|
|
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala)
|
rs1064793401
|
|
|
NM_000535.7(PMS2):c.541T>C (p.Tyr181His)
|
rs863224680
|
|
|
NM_000535.7(PMS2):c.542A>G (p.Tyr181Cys)
|
rs863224681
|
|
|
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe)
|
rs863224681
|
|
|
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr)
|
rs587779341
|
|
|
NM_000535.7(PMS2):c.545C>G (p.Ala182Gly)
|
rs1562679272
|
|
|
NM_000535.7(PMS2):c.545C>T (p.Ala182Val)
|
rs1562679272
|
|
|
NM_000535.7(PMS2):c.546C>T (p.Ala182=)
|
rs1554302537
|
|
|
NM_000535.7(PMS2):c.549A>C (p.Lys183Asn)
|
rs1784828441
|
|
|
NM_000535.7(PMS2):c.550A>G (p.Met184Val)
|
rs1583387809
|
|
|
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
|
rs1583387794
|
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
|
NM_000535.7(PMS2):c.553G>A (p.Val185Ile)
|
rs1583387731
|
|
|
NM_000535.7(PMS2):c.553G>T (p.Val185Phe)
|
rs1583387731
|
|
|
NM_000535.7(PMS2):c.554T>A (p.Val185Asp)
|
|
|
|
NM_000535.7(PMS2):c.554T>C (p.Val185Ala)
|
rs2128802017
|
|
|
NM_000535.7(PMS2):c.558G>C (p.Gln186His)
|
rs769411134
|
|
|
NM_000535.7(PMS2):c.559G>T (p.Val187Phe)
|
|
|
|
NM_000535.7(PMS2):c.55G>C (p.Asp19His)
|
rs1554306568
|
|
|
NM_000535.7(PMS2):c.55G>T (p.Asp19Tyr)
|
rs1554306568
|
|
|
NM_000535.7(PMS2):c.563T>C (p.Leu188Ser)
|
|
|
|
NM_000535.7(PMS2):c.565C>A (p.His189Asn)
|
rs1583387579
|
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
|
NM_000535.7(PMS2):c.566A>G (p.His189Arg)
|
rs876660330
|
|
|
NM_000535.7(PMS2):c.568G>A (p.Ala190Thr)
|
rs1784822104
|
|
|
NM_000535.7(PMS2):c.569C>T (p.Ala190Val)
|
|
|
|
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly)
|
rs1554306564
|
|
|
NM_000535.7(PMS2):c.571T>C (p.Tyr191His)
|
rs1784821488
|
|
|
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser)
|
rs375289386
|
|
|
NM_000535.7(PMS2):c.574T>C (p.Cys192Arg)
|
rs773752935
|
|
|
NM_000535.7(PMS2):c.575G>C (p.Cys192Ser)
|
rs772404945
|
|
|
NM_000535.7(PMS2):c.577A>T (p.Ile193Phe)
|
rs1784819145
|
|
|
NM_000535.7(PMS2):c.580A>G (p.Ile194Val)
|
rs1554302492
|
|
|
NM_000535.7(PMS2):c.582T>G (p.Ile194Met)
|
rs1554302490
|
|
|
NM_000535.7(PMS2):c.584C>T (p.Ser195Leu)
|
rs2128801488
|
|
|
NM_000535.7(PMS2):c.586G>A (p.Ala196Thr)
|
rs1784818316
|
|
|
NM_000535.7(PMS2):c.586G>C (p.Ala196Pro)
|
rs1784818316
|
|
|
NM_000535.7(PMS2):c.587C>G (p.Ala196Gly)
|
|
|
|
NM_000535.7(PMS2):c.587C>T (p.Ala196Val)
|
rs1554302485
|
|
|
NM_000535.7(PMS2):c.58C>A (p.Arg20=)
|
rs573374779
|
|
|
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)
|
rs573374779
|
|
|
NM_000535.7(PMS2):c.590G>A (p.Gly197Asp)
|
rs1260124992
|
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
|
NM_000535.7(PMS2):c.596G>C (p.Arg199Pro)
|
rs876658387
|
|
|
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
|
|
|
|
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro)
|
rs10254120
|
|
|
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly)
|
rs876658233
|
|
|
NM_000535.7(PMS2):c.5A>T (p.Glu2Val)
|
rs876658233
|
|
|
NM_000535.7(PMS2):c.601A>G (p.Ser201Gly)
|
rs1784814672
|
|
|
NM_000535.7(PMS2):c.602G>C (p.Ser201Thr)
|
rs2128801100
|
|
|
NM_000535.7(PMS2):c.603T>C (p.Ser201=)
|
|
|
|
NM_000535.7(PMS2):c.605G>A (p.Cys202Tyr)
|
|
|
|
NM_000535.7(PMS2):c.605G>T (p.Cys202Phe)
|
|
|
|
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala)
|
rs730881907
|
|
|
NM_000535.7(PMS2):c.608C>T (p.Thr203Ile)
|
rs779946576
|
|
|
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp)
|
rs1554302457
|
|
|
NM_000535.7(PMS2):c.60G>C (p.Arg20=)
|
rs1554306548
|
|
|
NM_000535.7(PMS2):c.610A>C (p.Asn204His)
|
rs746910555
|
|
|
NM_000535.7(PMS2):c.613C>G (p.Gln205Glu)
|
rs758250810
|
|
|
NM_000535.7(PMS2):c.614A>G (p.Gln205Arg)
|
rs587779342
|
|
|
NM_000535.7(PMS2):c.614A>T (p.Gln205Leu)
|
rs587779342
|
|
|
NM_000535.7(PMS2):c.615G>C (p.Gln205His)
|
rs752499497
|
|
|
NM_000535.7(PMS2):c.616C>G (p.Leu206Val)
|
|
|
|
NM_000535.7(PMS2):c.617T>A (p.Leu206His)
|
rs1784810263
|
|
|
NM_000535.7(PMS2):c.617T>C (p.Leu206Pro)
|
|
|
|
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg)
|
rs368847322
|
|
|
NM_000535.7(PMS2):c.619G>C (p.Gly207Arg)
|
rs368847322
|
|
|
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala)
|
rs374704824
|
|
|
NM_000535.7(PMS2):c.622C>G (p.Gln208Glu)
|
rs1784808623
|
|
|
NM_000535.7(PMS2):c.623A>G (p.Gln208Arg)
|
rs1554302423
|
|
|
NM_000535.7(PMS2):c.625G>A (p.Gly209Arg)
|
rs1784808075
|
|
|
NM_000535.7(PMS2):c.628A>C (p.Lys210Gln)
|
|
|
|
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr)
|
rs753562256
|
|
|
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
|
|
|
|
NM_000535.7(PMS2):c.630A>C (p.Lys210Asn)
|
|
|
|
NM_000535.7(PMS2):c.631C>G (p.Arg211Gly)
|
rs760228510
|
|
|
NM_000535.7(PMS2):c.632G>C (p.Arg211Pro)
|
|
|
|
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu)
|
rs587781934
|
|
|
NM_000535.7(PMS2):c.635A>C (p.Gln212Pro)
|
rs1583386594
|
|
|
NM_000535.7(PMS2):c.635A>G (p.Gln212Arg)
|
rs1583386594
|
|
|
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
|
rs1784804225
|
|
|
NM_000535.7(PMS2):c.636G>C (p.Gln212His)
|
rs1784804225
|
|
|
NM_000535.7(PMS2):c.637C>T (p.Pro213Ser)
|
|
|
|
NM_000535.7(PMS2):c.638C>G (p.Pro213Arg)
|
rs1784803938
|
|
|
NM_000535.7(PMS2):c.63G>T (p.Lys21Asn)
|
rs772643900
|
|
|
NM_000535.7(PMS2):c.640G>A (p.Val214Met)
|
|
|
|
NM_000535.7(PMS2):c.641T>C (p.Val214Ala)
|
|
|
|
NM_000535.7(PMS2):c.641T>G (p.Val214Gly)
|
rs864622706
|
|
|
NM_000535.7(PMS2):c.643G>C (p.Val215Leu)
|
rs1064794017
|
|
|
NM_000535.7(PMS2):c.643G>T (p.Val215Leu)
|
|
|
|
NM_000535.7(PMS2):c.644T>C (p.Val215Ala)
|
rs1554302383
|
|
|
NM_000535.7(PMS2):c.646T>C (p.Cys216Arg)
|
rs371402182
|
|
|
NM_000535.7(PMS2):c.649A>C (p.Thr217Pro)
|
rs1784800451
|
|
|
NM_000535.7(PMS2):c.649A>G (p.Thr217Ala)
|
rs1784800451
|
|
|
NM_000535.7(PMS2):c.650C>A (p.Thr217Lys)
|
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
|
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg)
|
rs878854055
|
|
|
NM_000535.7(PMS2):c.656G>A (p.Gly219Glu)
|
rs749431015
|
|
|
NM_000535.7(PMS2):c.658A>G (p.Ser220Gly)
|
rs2128800007
|
|
|
NM_000535.7(PMS2):c.659G>C (p.Ser220Thr)
|
|
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
|
NM_000535.7(PMS2):c.65C>T (p.Ser22Leu)
|
rs767028531
|
|
|
NM_000535.7(PMS2):c.661C>T (p.Pro221Ser)
|
|
|
|
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg)
|
rs878854056
|
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
|
NM_000535.7(PMS2):c.664A>G (p.Ser222Gly)
|
|
|
|
NM_000535.7(PMS2):c.665G>C (p.Ser222Thr)
|
|
|
|
NM_000535.7(PMS2):c.665G>T (p.Ser222Ile)
|
rs560462942
|
|
|
NM_000535.7(PMS2):c.666C>G (p.Ser222Arg)
|
rs1784796294
|
|
|
NM_000535.7(PMS2):c.667A>C (p.Ile223Leu)
|
rs876660067
|
|
|
NM_000535.7(PMS2):c.668T>A (p.Ile223Lys)
|
|
|
|
NM_000535.7(PMS2):c.668T>C (p.Ile223Thr)
|
|
|
|
NM_000535.7(PMS2):c.670A>G (p.Lys224Glu)
|
rs1784795307
|
|
|
NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)
|
|
|
|
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)
|
rs748141595
|
|
|
NM_000535.7(PMS2):c.673G>A (p.Glu225Lys)
|
rs1562677770
|
|
|
NM_000535.7(PMS2):c.673G>C (p.Glu225Gln)
|
rs1562677770
|
|
|
NM_000535.7(PMS2):c.674A>G (p.Glu225Gly)
|
rs2128799688
|
|
|
NM_000535.7(PMS2):c.676A>G (p.Asn226Asp)
|
rs587782791
|
|
|
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser)
|
rs778534735
|
|
|
NM_000535.7(PMS2):c.679A>C (p.Ile227Leu)
|
|
|
|
NM_000535.7(PMS2):c.679A>G (p.Ile227Val)
|
rs1554302326
|
|
|
NM_000535.7(PMS2):c.67G>A (p.Val23Ile)
|
|
|
|
NM_000535.7(PMS2):c.680T>C (p.Ile227Thr)
|
|
|
|
NM_000535.7(PMS2):c.680T>G (p.Ile227Ser)
|
rs1583385976
|
|
|
NM_000535.7(PMS2):c.683G>T (p.Gly228Val)
|
rs1554302319
|
|
|
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro)
|
rs730881909
|
|
|
NM_000535.7(PMS2):c.688G>A (p.Val230Met)
|
rs1562677528
|
|
|
NM_000535.7(PMS2):c.689T>A (p.Val230Glu)
|
rs1583385769
|
|
|
NM_000535.7(PMS2):c.689_690delinsAT (p.Val230Asp)
|
|
|
|
NM_000535.7(PMS2):c.68T>G (p.Val23Gly)
|
rs1060503114
|
|
|
NM_000535.7(PMS2):c.692T>C (p.Phe231Ser)
|
|
|
|
NM_000535.7(PMS2):c.694G>C (p.Gly232Arg)
|
rs1266098796
|
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
|
NM_000535.7(PMS2):c.695G>C (p.Gly232Ala)
|
rs201811667
|
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
|
NM_000535.7(PMS2):c.698A>G (p.Gln233Arg)
|
rs1784786188
|
|
|
NM_000535.7(PMS2):c.700A>G (p.Lys234Glu)
|
rs1554302295
|
|
|
NM_000535.7(PMS2):c.703C>G (p.Gln235Glu)
|
rs63750261
|
|
|
NM_000535.7(PMS2):c.704A>C (p.Gln235Pro)
|
rs2128798976
|
|
|
NM_000535.7(PMS2):c.705+10del
|
|
|
|
NM_000535.7(PMS2):c.705+4G>C
|
rs1784783143
|
|
|
NM_000535.7(PMS2):c.705+5T>C
|
rs763422964
|
|
|
NM_000535.7(PMS2):c.705+5T>G
|
|
|
|
NM_000535.7(PMS2):c.705+6G>A
|
rs2128798888
|
|
|
NM_000535.7(PMS2):c.705G>A (p.Gln235=)
|
rs876660872
|
|
|
NM_000535.7(PMS2):c.705G>C (p.Gln235His)
|
rs876660872
|
|
|
NM_000535.7(PMS2):c.706-3C>A
|
rs1229860023
|
|
|
NM_000535.7(PMS2):c.706-3del
|
rs770480662
|
|
|
NM_000535.7(PMS2):c.706-3delinsTA
|
rs1436961952
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
|
NM_000535.7(PMS2):c.709C>G (p.Gln237Glu)
|
|
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
|
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly)
|
rs1060503149
|
|
|
NM_000535.7(PMS2):c.712A>T (p.Ser238Cys)
|
|
|
|
NM_000535.7(PMS2):c.715C>G (p.Leu239Val)
|
rs1554301543
|
|
|
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe)
|
rs1554301543
|
|
|
NM_000535.7(PMS2):c.716T>G (p.Leu239Arg)
|
rs1060503136
|
|
|
NM_000535.7(PMS2):c.718A>T (p.Ile240Phe)
|
rs746592049
|
|
|
NM_000535.7(PMS2):c.719T>A (p.Ile240Asn)
|
|
|
|
NM_000535.7(PMS2):c.71A>G (p.His24Arg)
|
rs139233015
|
|
|
NM_000535.7(PMS2):c.71A>T (p.His24Leu)
|
rs139233015
|
|
|
NM_000535.7(PMS2):c.721C>A (p.Pro241Thr)
|
|
|
|
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala)
|
rs779411667
|
|
|
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg)
|
rs1554301523
|
|
|
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu)
|
rs1554301523
|
|
|
NM_000535.7(PMS2):c.726T>A (p.Phe242Leu)
|
rs1346863182
|
|
|
NM_000535.7(PMS2):c.727G>C (p.Val243Leu)
|
rs867655834
|
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
|
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
|
|
|
|
NM_000535.7(PMS2):c.732G>C (p.Gln244His)
|
rs1390756677
|
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
|
NM_000535.7(PMS2):c.736C>T (p.Pro246Ser)
|
rs765668173
|
|
|
NM_000535.7(PMS2):c.737C>A (p.Pro246His)
|
rs1562670885
|
|
|
NM_000535.7(PMS2):c.739C>A (p.Pro247Thr)
|
rs878854058
|
|
|
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala)
|
rs878854058
|
|
|
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser)
|
rs878854058
|
|
|
NM_000535.7(PMS2):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_000535.7(PMS2):c.744T>A (p.Ser248Arg)
|
rs1554301489
|
|
|
NM_000535.7(PMS2):c.744T>G (p.Ser248Arg)
|
rs1554301489
|
|
|
NM_000535.7(PMS2):c.745G>C (p.Asp249His)
|
rs1244322338
|
|
|
NM_000535.7(PMS2):c.749C>G (p.Ser250Cys)
|
rs2128787602
|
|
|
NM_000535.7(PMS2):c.751G>C (p.Val251Leu)
|
rs142434011
|
|
|
NM_000535.7(PMS2):c.751G>T (p.Val251Leu)
|
rs142434011
|
|
|
NM_000535.7(PMS2):c.754T>A (p.Cys252Ser)
|
|
|
|
NM_000535.7(PMS2):c.754T>C (p.Cys252Arg)
|
rs1784532607
|
|
|
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala)
|
rs876661002
|
|
|
NM_000535.7(PMS2):c.759_764del (p.Glu253_Tyr255delinsAsp)
|
rs1562670309
|
|
|
NM_000535.7(PMS2):c.75G>C (p.Gln25His)
|
rs1554306525
|
|
|
NM_000535.7(PMS2):c.75G>T (p.Gln25His)
|
rs1554306525
|
|
|
NM_000535.7(PMS2):c.761A>G (p.Glu254Gly)
|
rs1784530360
|
|
|
NM_000535.7(PMS2):c.761A>T (p.Glu254Val)
|
|
|
|
NM_000535.7(PMS2):c.762G>T (p.Glu254Asp)
|
rs1784530093
|
|
|
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn)
|
rs1554301471
|
|
|
NM_000535.7(PMS2):c.764A>G (p.Tyr255Cys)
|
rs1268217925
|
|
|
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg)
|
rs587782633
|
|
|
NM_000535.7(PMS2):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_000535.7(PMS2):c.76A>C (p.Ile26Leu)
|
rs1412094620
|
|
|
NM_000535.7(PMS2):c.76A>T (p.Ile26Phe)
|
rs1412094620
|
|
|
NM_000535.7(PMS2):c.770T>C (p.Leu257Ser)
|
rs1554301463
|
|
|
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp)
|
rs1554301463
|
|
|
NM_000535.7(PMS2):c.772A>G (p.Ser258Gly)
|
rs2128787031
|
|
|
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn)
|
rs587780727
|
|
|
NM_000535.7(PMS2):c.774C>G (p.Ser258Arg)
|
rs1784526585
|
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
|
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)
|
rs1554301436
|
|
|
NM_000535.7(PMS2):c.775T>C (p.Cys259Arg)
|
rs1554301455
|
|
|
NM_000535.7(PMS2):c.776G>A (p.Cys259Tyr)
|
|
|
|
NM_000535.7(PMS2):c.776G>C (p.Cys259Ser)
|
|
|
|
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
|
|
|
|
NM_000535.7(PMS2):c.779C>A (p.Ser260Tyr)
|
rs777286241
|
|
|
NM_000535.7(PMS2):c.779C>G (p.Ser260Cys)
|
rs777286241
|
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
|
NM_000535.7(PMS2):c.77T>C (p.Ile26Thr)
|
rs1583419301
|
|
|
NM_000535.7(PMS2):c.780_781delinsGA (p.Asp261Asn)
|
rs1784522955
|
|
|
NM_000535.7(PMS2):c.781G>A (p.Asp261Asn)
|
rs1060503150
|
|
|
NM_000535.7(PMS2):c.782A>G (p.Asp261Gly)
|
rs1562669887
|
|
|
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)
|
rs779625900
|
|
|
NM_000535.7(PMS2):c.784G>T (p.Ala262Ser)
|
rs779625900
|
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
|
NM_000535.7(PMS2):c.789_790delinsTT (p.His264Tyr)
|
|
|
|
NM_000535.7(PMS2):c.790C>T (p.His264Tyr)
|
rs2128786522
|
|
|
NM_000535.7(PMS2):c.791A>C (p.His264Pro)
|
rs1060503129
|
|
|
NM_000535.7(PMS2):c.792T>G (p.His264Gln)
|
rs1554301398
|
|
|
NM_000535.7(PMS2):c.796C>G (p.Leu266Val)
|
rs1583373747
|
|
|
NM_000535.7(PMS2):c.7C>G (p.Arg3Gly)
|
|
|
|
NM_000535.7(PMS2):c.800T>G (p.Phe267Cys)
|
|
|
|
NM_000535.7(PMS2):c.801T>G (p.Phe267Leu)
|
rs1554301382
|
|
|
NM_000535.7(PMS2):c.802T>C (p.Tyr268His)
|
rs1583373654
|
|
|
NM_000535.7(PMS2):c.803+3A>T
|
|
|
|
NM_000535.7(PMS2):c.804-13T>G
|
rs1562664935
|
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
|
NM_000535.7(PMS2):c.804-3T>C
|
rs1562664868
|
|
|
NM_000535.7(PMS2):c.804-3T>G
|
rs1562664868
|
|
|
NM_000535.7(PMS2):c.804-4A>C
|
rs1475598645
|
|
|
NM_000535.7(PMS2):c.804-4A>G
|
rs1475598645
|
|
|
NM_000535.7(PMS2):c.804-8T>C
|
rs1562664890
|
|
|
NM_000535.7(PMS2):c.805A>G (p.Ile269Val)
|
rs1554300825
|
|
|
NM_000535.7(PMS2):c.807C>G (p.Ile269Met)
|
rs1784316728
|
|
|
NM_000535.7(PMS2):c.80G>A (p.Cys27Tyr)
|
rs2128845886
|
|
|
NM_000535.7(PMS2):c.80G>T (p.Cys27Phe)
|
rs2128845886
|
|
|
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser)
|
rs1583364895
|
|
|
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
|
rs1583364867
|
|
|
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
|
rs587778621
|
|
|
NM_000535.7(PMS2):c.821C>T (p.Ser274Leu)
|
|
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
|
NM_000535.7(PMS2):c.824A>T (p.Gln275Leu)
|
|
|
|
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)
|
rs1554300806
|
|
|
NM_000535.7(PMS2):c.829A>T (p.Thr277Ser)
|
rs1583364586
|
|
|
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala)
|
rs587781908
|
|
|
NM_000535.7(PMS2):c.830C>T (p.Thr277Met)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.832C>A (p.His278Asn)
|
rs1554300796
|
|
|
NM_000535.7(PMS2):c.833A>C (p.His278Pro)
|
rs1562664434
|
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
|
NM_000535.7(PMS2):c.834T>A (p.His278Gln)
|
rs2128776000
|
|
|
NM_000535.7(PMS2):c.836G>A (p.Gly279Glu)
|
rs587782668
|
|
|
NM_000535.7(PMS2):c.836G>T (p.Gly279Val)
|
rs587782668
|
|
|
NM_000535.7(PMS2):c.838G>A (p.Val280Ile)
|
|
|
|
NM_000535.7(PMS2):c.838G>T (p.Val280Phe)
|
|
|
|
NM_000535.7(PMS2):c.839T>A (p.Val280Asp)
|
rs1159880186
|
|
|
NM_000535.7(PMS2):c.83C>T (p.Ser28Phe)
|
rs1785707505
|
|
|
NM_000535.7(PMS2):c.841G>A (p.Gly281Arg)
|
rs1784309424
|
|
|
NM_000535.7(PMS2):c.842G>A (p.Gly281Glu)
|
rs2128775853
|
|
|
NM_000535.7(PMS2):c.845G>A (p.Arg282Lys)
|
rs2128775792
|
|
|
NM_000535.7(PMS2):c.846G>C (p.Arg282Ser)
|
|
|
|
NM_000535.7(PMS2):c.846_848del (p.Arg282del)
|
rs776688670
|
|
|
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)
|
rs1277038817
|
|
|
NM_000535.7(PMS2):c.849_850inv (p.Ser283_Ser284delinsArgThr)
|
|
|
|
NM_000535.7(PMS2):c.850T>C (p.Ser284Pro)
|
|
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
|
NM_000535.7(PMS2):c.853A>G (p.Thr285Ala)
|
rs760448660
|
|
|
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys)
|
rs1583364029
|
|
|
NM_000535.7(PMS2):c.854C>T (p.Thr285Ile)
|
rs1583364029
|
|
|
NM_000535.7(PMS2):c.856G>C (p.Asp286His)
|
|
|
|
NM_000535.7(PMS2):c.856_861del (p.Asp286_Arg287del)
|
rs2128775321
|
|
|
NM_000535.7(PMS2):c.857A>T (p.Asp286Val)
|
|
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
|
NM_000535.7(PMS2):c.859A>G (p.Arg287Gly)
|
rs876658712
|
|
|
NM_000535.7(PMS2):c.85G>A (p.Gly29Arg)
|
rs1583419271
|
|
|
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys)
|
rs1060503122
|
|
|
NM_000535.7(PMS2):c.863A>G (p.Gln288Arg)
|
rs1784301984
|
|
|
NM_000535.7(PMS2):c.864G>T (p.Gln288His)
|
rs990212889
|
|
|
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu)
|
rs771787834
|
|
|
NM_000535.7(PMS2):c.865T>G (p.Phe289Val)
|
rs771787834
|
|
|
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu)
|
rs587782833
|
|
|
NM_000535.7(PMS2):c.869T>A (p.Phe290Tyr)
|
rs1031512870
|
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
|
NM_000535.7(PMS2):c.870C>G (p.Phe290Leu)
|
|
|
|
NM_000535.7(PMS2):c.873T>C (p.Phe291=)
|
|
|
|
NM_000535.7(PMS2):c.874A>G (p.Ile292Val)
|
rs587781281
|
|
|
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe)
|
rs587781281
|
|
|
NM_000535.7(PMS2):c.877A>T (p.Asn293Tyr)
|
rs530993704
|
|
|
NM_000535.7(PMS2):c.878A>C (p.Asn293Thr)
|
rs1274671450
|
|
|
NM_000535.7(PMS2):c.87G>T (p.Gly29=)
|
rs876659642
|
|
|
NM_000535.7(PMS2):c.881G>C (p.Arg294Pro)
|
|
|
|
NM_000535.7(PMS2):c.884G>C (p.Arg295Pro)
|
|
|
|
NM_000535.7(PMS2):c.884G>T (p.Arg295Leu)
|
|
|
|
NM_000535.7(PMS2):c.886C>G (p.Pro296Ala)
|
rs375553553
|
|
|
NM_000535.7(PMS2):c.887C>A (p.Pro296His)
|
rs1562663523
|
|
|
NM_000535.7(PMS2):c.887C>T (p.Pro296Leu)
|
rs1562663523
|
|
|
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly)
|
rs1562663507
|
|
|
NM_000535.7(PMS2):c.88C>G (p.Gln30Glu)
|
rs141577476
|
|
|
NM_000535.7(PMS2):c.890G>A (p.Cys297Tyr)
|
rs869312802
|
|
|
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser)
|
rs869312802
|
|
|
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly)
|
rs876658970
|
|
|
NM_000535.7(PMS2):c.894C>A (p.Asp298Glu)
|
|
|
|
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr)
|
rs1562663421
|
|
|
NM_000535.7(PMS2):c.896C>G (p.Pro299Arg)
|
rs1402108044
|
|
|
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu)
|
rs1402108044
|
|
|
NM_000535.7(PMS2):c.898G>C (p.Ala300Pro)
|
rs771561768
|
|
|
NM_000535.7(PMS2):c.899C>T (p.Ala300Val)
|
rs1554300702
|
|
|
NM_000535.7(PMS2):c.8G>C (p.Arg3Pro)
|
rs375507981
|
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
|
NM_000535.7(PMS2):c.903+17T>A
|
rs1784288209
|
|
|
NM_000535.7(PMS2):c.903+3A>G
|
rs1562663258
|
|
|
NM_000535.7(PMS2):c.903+5T>A
|
rs1419635604
|
|
|
NM_000535.7(PMS2):c.903+5T>C
|
rs1419635604
|
|
|
NM_000535.7(PMS2):c.903+5T>G
|
|
|
|
NM_000535.7(PMS2):c.903+6T>C
|
rs1784289590
|
|
|
NM_000535.7(PMS2):c.904-14T>A
|
rs1064795266
|
|
|
NM_000535.7(PMS2):c.904-18_904-16delinsGAG
|
|
|
|
NM_000535.7(PMS2):c.904-3C>T
|
|
|
|
NM_000535.7(PMS2):c.904G>A (p.Val302Ile)
|
rs755960629
|
|
|
NM_000535.7(PMS2):c.910A>G (p.Arg304Gly)
|
rs1583345773
|
|
|
NM_000535.7(PMS2):c.911G>A (p.Arg304Lys)
|
rs1562652035
|
|
|
NM_000535.7(PMS2):c.912A>T (p.Arg304Ser)
|
|
|
|
NM_000535.7(PMS2):c.913C>T (p.Leu305Phe)
|
rs750420143
|
|
|
NM_000535.7(PMS2):c.914T>A (p.Leu305His)
|
|
|
|
NM_000535.7(PMS2):c.914T>G (p.Leu305Arg)
|
rs1583345706
|
|
|
NM_000535.7(PMS2):c.916G>C (p.Val306Leu)
|
rs587780063
|
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
|
NM_000535.7(PMS2):c.919A>G (p.Asn307Asp)
|
|
|
|
NM_000535.7(PMS2):c.91G>A (p.Val31Met)
|
rs786203763
|
|
|
NM_000535.7(PMS2):c.91G>T (p.Val31Leu)
|
rs786203763
|
|
|
NM_000535.7(PMS2):c.920A>C (p.Asn307Thr)
|
rs1583345602
|
|
|
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)
|
rs1583345602
|
|
|
NM_000535.7(PMS2):c.921T>G (p.Asn307Lys)
|
rs587779346
|
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
|
NM_000535.7(PMS2):c.923A>C (p.Glu308Ala)
|
rs1305296572
|
|
|
NM_000535.7(PMS2):c.925G>A (p.Val309Ile)
|
rs763718441
|
|
|
NM_000535.7(PMS2):c.925G>T (p.Val309Phe)
|
rs763718441
|
|
|
NM_000535.7(PMS2):c.928T>C (p.Tyr310His)
|
rs2128755950
|
|
|
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)
|
rs372172981
|
|
|
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe)
|
rs372172981
|
|
|
NM_000535.7(PMS2):c.930C>T (p.Tyr310=)
|
rs1405625567
|
|
|
NM_000535.7(PMS2):c.931C>A (p.His311Asn)
|
|
|
|
NM_000535.7(PMS2):c.931C>G (p.His311Asp)
|
|
|
|
NM_000535.7(PMS2):c.931C>T (p.His311Tyr)
|
rs2128755904
|
|
|
NM_000535.7(PMS2):c.933C>G (p.His311Gln)
|
rs1057521069
|
|
|
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)
|
rs786202567
|
|
|
NM_000535.7(PMS2):c.938A>C (p.Tyr313Ser)
|
rs587782513
|
|
|
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys)
|
rs587782513
|
|
|
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
|
|
|
|
NM_000535.7(PMS2):c.943C>G (p.Arg315Gly)
|
rs200640585
|
|
|
NM_000535.7(PMS2):c.944G>T (p.Arg315Leu)
|
|
|
|
NM_000535.7(PMS2):c.946C>T (p.His316Tyr)
|
rs2128755632
|
|
|
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
|
rs1219573982
|
|
|
NM_000535.7(PMS2):c.948C>G (p.His316Gln)
|
rs1219573982
|
|
|
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)
|
rs143277125
|
|
|
NM_000535.7(PMS2):c.94G>T (p.Val32Leu)
|
rs977251189
|
|
|
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
|
rs537024768
|
|
|
NM_000535.7(PMS2):c.955C>A (p.Pro319Thr)
|
rs1248142939
|
|
|
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser)
|
rs1248142939
|
|
|
NM_000535.7(PMS2):c.956C>G (p.Pro319Arg)
|
rs1562651380
|
|
|
NM_000535.7(PMS2):c.956C>T (p.Pro319Leu)
|
rs1562651380
|
|
|
NM_000535.7(PMS2):c.959T>C (p.Phe320Ser)
|
rs1060503121
|
|
|
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys)
|
rs1060503121
|
|
|
NM_000535.7(PMS2):c.95T>C (p.Val32Ala)
|
|
|
|
NM_000535.7(PMS2):c.961GTT[1] (p.Val322del)
|
|
|
|
NM_000535.7(PMS2):c.964G>T (p.Val322Phe)
|
rs587782208
|
|
|
NM_000535.7(PMS2):c.967C>G (p.Leu323Val)
|
rs1554299391
|
|
|
NM_000535.7(PMS2):c.970A>T (p.Asn324Tyr)
|
rs1562651233
|
|
|
NM_000535.7(PMS2):c.971A>C (p.Asn324Thr)
|
rs1554299388
|
|
|
NM_000535.7(PMS2):c.971A>G (p.Asn324Ser)
|
rs1554299388
|
|
|
NM_000535.7(PMS2):c.972C>G (p.Asn324Lys)
|
rs182085259
|
|
|
NM_000535.7(PMS2):c.973A>G (p.Ile325Val)
|
|
|
|
NM_000535.7(PMS2):c.975T>G (p.Ile325Met)
|
rs1583344828
|
|
|
NM_000535.7(PMS2):c.976T>C (p.Ser326Pro)
|
rs2128755123
|
|
|
NM_000535.7(PMS2):c.977C>G (p.Ser326Cys)
|
rs2128755117
|
|
|
NM_000535.7(PMS2):c.979G>A (p.Val327Ile)
|
rs1257825900
|
|
|
NM_000535.7(PMS2):c.979G>C (p.Val327Leu)
|
rs1257825900
|
|
|
NM_000535.7(PMS2):c.982G>A (p.Asp328Asn)
|
|
|
|
NM_000535.7(PMS2):c.986C>T (p.Ser329Leu)
|
rs1461669945
|
|
|
NM_000535.7(PMS2):c.988+4A>C
|
rs763959308
|
|
|
NM_000535.7(PMS2):c.988+5G>A
|
rs1783785796
|
|
|
NM_000535.7(PMS2):c.988G>C (p.Glu330Gln)
|
rs1370798039
|
|
|
NM_000535.7(PMS2):c.989-107_989-106insA
|
|
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
|
NM_000535.7(PMS2):c.989-8T>A
|
rs1583336015
|
|
|
NM_000535.7(PMS2):c.990A>G (p.Glu330=)
|
rs2128749040
|
|
|
NM_000535.7(PMS2):c.991T>G (p.Cys331Gly)
|
rs1554298831
|
|
|
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr)
|
rs1184563006
|
|
|
NM_000535.7(PMS2):c.994G>C (p.Val332Leu)
|
rs1236095389
|
|
|
NM_000535.7(PMS2):c.995T>A (p.Val332Asp)
|
rs2128748950
|
|
|
NM_000535.7(PMS2):c.998A>C (p.Asp333Ala)
|
rs1187390273
|
|
|
NM_000535.7(PMS2):c.998A>T (p.Asp333Val)
|
rs1187390273
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
|
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
|
NM_000546.6(TP53):c.-29+4907G>T
|
|
|
|
NM_000546.6(TP53):c.-29+4908G>C
|
|
|
|
NM_000546.6(TP53):c.-29+4914G>T
|
|
|
|
NM_000546.6(TP53):c.-29+4915del
|
|
|
|
NM_000546.6(TP53):c.-29+4952G>C
|
|
|
|
NM_000546.6(TP53):c.-29+5027A>T
|
|
|
|
NM_000546.6(TP53):c.-29+5029A>G
|
|
|
|
NM_000546.6(TP53):c.-29+5139C>A
|
|
|
|
NM_000546.6(TP53):c.-29+5G>T
|
rs1597400604
|
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
|
NM_000546.6(TP53):c.1069A>G (p.Lys357Glu)
|
rs1567541856
|
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
|
NM_000546.6(TP53):c.1101-313G>A
|
|
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
|
NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)
|
|
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
|
NM_000546.6(TP53):c.176G>A (p.Gly59Asp)
|
rs1597374828
|
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
|
NM_000546.6(TP53):c.376-11T>C
|
|
|
|
NM_000546.6(TP53):c.376-11del
|
|
|
|
NM_000546.6(TP53):c.376-12del
|
|
|
|
NM_000546.6(TP53):c.376-12dup
|
|
|
|
NM_000546.6(TP53):c.376-13C>T
|
rs2073407612
|
|
|
NM_000546.6(TP53):c.376-2A>C
|
rs786202799
|
|
|
NM_000546.6(TP53):c.376-2del
|
|
|
|
NM_000546.6(TP53):c.376-36dup
|
|
|
|
NM_000546.6(TP53):c.376-3del
|
|
|
|
NM_000546.6(TP53):c.376-3delinsAG
|
|
|
|
NM_000546.6(TP53):c.376-48T>A
|
|
|
|
NM_000546.6(TP53):c.376-4A>C
|
|
|
|
NM_000546.6(TP53):c.376-4_376-3delinsTA
|
|
|
|
NM_000546.6(TP53):c.376-6C>G
|
|
|
|
NM_000546.6(TP53):c.376-6_376-5insG
|
|
|
|
NM_000546.6(TP53):c.376-6del
|
|
|
|
NM_000546.6(TP53):c.376-8del
|
|
|
|
NM_000546.6(TP53):c.376-8dup
|
|
|
|
NM_000546.6(TP53):c.376-9T>C
|
|
|
|
NM_000546.6(TP53):c.376_377delinsCT (p.Tyr126Leu)
|
|
|
|
NM_000546.6(TP53):c.376delinsAG (p.Tyr126fs)
|
|
|
|
NM_000546.6(TP53):c.376delinsGG (p.Tyr126fs)
|
|
|
|
NM_000546.6(TP53):c.377dup (p.Tyr126Ter)
|
|
|
|
NM_000546.6(TP53):c.378C>A (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.379dup (p.Ser127fs)
|
|
|
|
NM_000546.6(TP53):c.382C>T (p.Pro128Ser)
|
|
|
|
NM_000546.6(TP53):c.383del (p.Pro128fs)
|
rs1597371666
|
|
|
NM_000546.6(TP53):c.383dup (p.Ala129fs)
|
|
|
|
NM_000546.6(TP53):c.386_387insA (p.Leu130fs)
|
|
|
|
NM_000546.6(TP53):c.387C>T (p.Ala129=)
|
|
|
|
NM_000546.6(TP53):c.388_390delinsGAT (p.Leu130Asp)
|
|
|
|
NM_000546.6(TP53):c.388del (p.Leu130fs)
|
rs2151033977
|
|
|
NM_000546.6(TP53):c.388dup (p.Leu130fs)
|
|
|
|
NM_000546.6(TP53):c.390C>G (p.Leu130=)
|
|
|
|
NM_000546.6(TP53):c.392del (p.Asn131fs)
|
|
|
|
NM_000546.6(TP53):c.393del (p.Asn131fs)
|
rs1567554408
|
|
|
NM_000546.6(TP53):c.395del (p.Lys132fs)
|
|
|
|
NM_000546.6(TP53):c.396_397insT (p.Met133fs)
|
|
|
|
NM_000546.6(TP53):c.398T>G (p.Met133Arg)
|
|
|
|
NM_000546.6(TP53):c.401_402delinsCTG (p.Phe134fs)
|
|
|
|
NM_000546.6(TP53):c.409dup (p.Leu137fs)
|
|
|
|
NM_000546.6(TP53):c.413C>G (p.Ala138Gly)
|
rs750600586
|
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
|
NM_000546.6(TP53):c.413_414insG (p.Lys139fs)
|
|
|
|
NM_000546.6(TP53):c.413delinsTG (p.Ala138fs)
|
|
|
|
NM_000546.6(TP53):c.415_416delinsG (p.Lys139fs)
|
|
|
|
NM_000546.6(TP53):c.417_418insT (p.Thr140fs)
|
|
|
|
NM_000546.6(TP53):c.421del (p.Cys141fs)
|
|
|
|
NM_000546.6(TP53):c.421dup (p.Cys141fs)
|
|
|
|
NM_000546.6(TP53):c.422_423insT (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.422dup (p.Cys141fs)
|
rs2073394466
|
|
|
NM_000546.6(TP53):c.424_425del (p.Pro142fs)
|
|
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
|
NM_000546.6(TP53):c.427G>C (p.Val143Leu)
|
|
|
|
NM_000546.6(TP53):c.427_428insC (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.428T>A (p.Val143Glu)
|
|
|
|
NM_000546.6(TP53):c.428del (p.Val143fs)
|
|
|
|
NM_000546.6(TP53):c.428dup (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.431A>G (p.Gln144Arg)
|
|
|
|
NM_000546.6(TP53):c.431del (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.432_433delinsCA (p.Gln144_Leu145delinsHisMet)
|
|
|
|
NM_000546.6(TP53):c.432del (p.Gln144fs)
|
|
|
|
NM_000546.6(TP53):c.433del (p.Leu145fs)
|
|
|
|
NM_000546.6(TP53):c.435_436delinsAAG (p.Trp146fs)
|
|
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
|
NM_000546.6(TP53):c.441T>G (p.Val147=)
|
|
|
|
NM_000546.6(TP53):c.443A>T (p.Asp148Val)
|
|
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
|
NM_000546.6(TP53):c.453C>A (p.Pro151=)
|
|
|
|
NM_000546.6(TP53):c.454C>A (p.Pro152Thr)
|
|
|
|
NM_000546.6(TP53):c.457C>G (p.Pro153Ala)
|
|
|
|
NM_000546.6(TP53):c.457_458insATGTCGCCACGCGGTCCGAC (p.Pro153fs)
|
|
|
|
NM_000546.6(TP53):c.460_462delinsAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.461_462delinsAT (p.Gly154Asp)
|
|
|
|
NM_000546.6(TP53):c.461_462delinsCAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.461_463delinsCAT (p.Gly154_Thr155delinsAlaSer)
|
|
|
|
NM_000546.6(TP53):c.461delinsAT (p.Gly154fs)
|
|
|
|
NM_000546.6(TP53):c.463del (p.Thr155fs)
|
|
|
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
|
NM_000546.6(TP53):c.490A>C (p.Lys164Gln)
|
|
|
|
NM_000546.6(TP53):c.491del (p.Lys164fs)
|
|
|
|
NM_000546.6(TP53):c.492_493delinsTT (p.Lys164_Gln165delinsAsnTer)
|
|
|
|
NM_000546.6(TP53):c.493delinsAA (p.Gln165fs)
|
|
|
|
NM_000546.6(TP53):c.495_499delinsCCCTA (p.Gln165_Gln167delinsHisProLys)
|
|
|
|
NM_000546.6(TP53):c.496T>G (p.Ser166Ala)
|
|
|
|
NM_000546.6(TP53):c.496_497insG (p.Ser166fs)
|
|
|
|
NM_000546.6(TP53):c.496_497insGC (p.Ser166fs)
|
|
|
|
NM_000546.6(TP53):c.498del (p.Gln167fs)
|
|
|
|
NM_000546.6(TP53):c.499_500del (p.Gln167fs)
|
|
|
|
NM_000546.6(TP53):c.502C>A (p.His168Asn)
|
|
|
|
NM_000546.6(TP53):c.503dup (p.His168fs)
|
|
|
|
NM_000546.6(TP53):c.511_512insC (p.Glu171fs)
|
|
|
|
NM_000546.6(TP53):c.516del (p.Val172_Val173insTer)
|
|
|
|
NM_000546.6(TP53):c.522del (p.Arg174fs)
|
|
|
|
NM_000546.6(TP53):c.522dup (p.Arg175fs)
|
|
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.531C>A (p.Pro177=)
|
|
|
|
NM_000546.6(TP53):c.531CCA[1] (p.His179del)
|
|
|
|
NM_000546.6(TP53):c.532dup (p.His178fs)
|
|
|
|
NM_000546.6(TP53):c.533dup (p.His178fs)
|
|
|
|
NM_000546.6(TP53):c.539dup (p.Arg181fs)
|
|
|
|
NM_000546.6(TP53):c.545del (p.Cys182fs)
|
rs1567552584
|
|
|
NM_000546.6(TP53):c.546del (p.Ser183fs)
|
|
|
|
NM_000546.6(TP53):c.548_549insT (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.548dup (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550G>C (p.Asp184His)
|
|
|
|
NM_000546.6(TP53):c.550_551insC (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550del (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.550dup (p.Asp184fs)
|
|
|
|
NM_000546.6(TP53):c.554del (p.Ser185fs)
|
|
|
|
NM_000546.6(TP53):c.554dup (p.Ser185fs)
|
|
|
|
NM_000546.6(TP53):c.555dup (p.Asp186fs)
|
|
|
|
NM_000546.6(TP53):c.559+11G>T
|
|
|
|
NM_000546.6(TP53):c.559+35G>A
|
|
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
|
NM_000546.6(TP53):c.559+5del
|
|
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
|
NM_000546.6(TP53):c.673-110G>A
|
|
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
|
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
|
rs193920789
|
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
|
NM_000546.6(TP53):c.7G>C (p.Glu3Gln)
|
rs2073524362
|
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
|
NM_000546.6(TP53):c.993+13G>A
|
rs369599972
|
|
|
NM_000546.6(TP53):c.993+303T>A
|
rs1567545268
|
|
|
NM_000546.6(TP53):c.993+44C>A
|
|
|
|
NM_000546.6(TP53):c.993+5T>G
|
rs1310956961
|
|
|
NM_000546.6(TP53):c.993+86del
|
|
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
rs869025650
|
|
|
NM_000551.4(VHL):c.462A>G (p.Pro154=)
|
rs1060503562
|
|
|
NM_000551.4(VHL):c.508G>A (p.Val170Ile)
|
rs1553620326
|
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
|
NM_000554.6(CRX):c.107C>A (p.Pro36His)
|
rs193920917
|
|
|
NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs)
|
|
|
|
NM_000698.5(ALOX5):c.490T>G (p.Leu164Val)
|
rs869025237
|
|
|
NM_000701.8(ATP1A1):c.464C>T (p.Ser155Leu)
|
rs193920762
|
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
|
NM_000743.5(CHRNA3):c.267+14C>T
|
|
|
|
NM_000743.5(CHRNA3):c.378-230_378-229inv
|
|
|
|
NM_000745.4(CHRNA5):c.*552T>C
|
|
|
|
NM_000745.4(CHRNA5):c.*747T>C
|
|
|
|
NM_000745.4(CHRNA5):c.304-96C>A
|
|
|
|
NM_000750.5(CHRNB4):c.*319_*320delinsAT
|
|
|
|
NM_000791.4(DHFR):c.-264C>A
|
rs369278563
|
|
|
NM_000868.4(HTR2C):c.502C>T (p.Arg168Trp)
|
rs193920954
|
|
|
NM_000870.7(HTR4):c.1076+211C>A
|
|
|
|
NM_000876.4(IGF2R):c.3670+2T>C
|
rs193920850
|
|
|
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)
|
rs2115160662
|
|
|
NM_000888.5(ITGB6):c.1460G>A (p.Gly487Glu)
|
rs193920975
|
|
|
NM_000921.5(PDE3A):c.2832G>C (p.Met944Ile)
|
rs567843370
|
|
|
NM_001004434.3(SLC30A2):c.655G>A (p.Ala219Thr)
|
rs864622019
|
|
|
NM_001004470.3(ST8SIA6):c.344G>T (p.Trp115Leu)
|
rs193920832
|
|
|
NM_001004699.3(OR2Z1):c.878G>T (p.Arg293Met)
|
rs193921073
|
|
|
NM_001004738.2(OR5L1):c.494G>T (p.Arg165Met)
|
rs193921144
|
|
|
NM_001005202.2(OR8K3):c.700C>A (p.Gln234Lys)
|
rs193920753
|
|
|
NM_001005279.3(OR6K2):c.947G>T (p.Arg316Ile)
|
rs193920807
|
|
|
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
|
NM_001005738.2(FPR2):c.-15+1402C>T
|
|
|
|
NM_001007228.2(SPOP):c.201-10_201-9insA
|
rs2072169964
|
|
|
NM_001007228.2(SPOP):c.201-1G>C
|
rs2072169727
|
|
|
NM_001007228.2(SPOP):c.201-2A>G
|
rs2072169772
|
|
|
NM_001007228.2(SPOP):c.206_207insTC (p.Leu69fs)
|
rs2072169642
|
|
|
NM_001007228.2(SPOP):c.209G>C (p.Arg70Pro)
|
rs2072169466
|
|
|
NM_001007228.2(SPOP):c.210A>T (p.Arg70=)
|
rs2072169385
|
|
|
NM_001007228.2(SPOP):c.215A>C (p.Asn72Thr)
|
rs2072169299
|
|
|
NM_001007228.2(SPOP):c.227T>C (p.Leu76Ser)
|
rs2072169063
|
|
|
NM_001007228.2(SPOP):c.229G>A (p.Asp77Asn)
|
rs2072168946
|
|
|
NM_001007228.2(SPOP):c.229G>T (p.Asp77Tyr)
|
rs2072168946
|
|
|
NM_001007228.2(SPOP):c.230delinsGC (p.Asp77fs)
|
rs2072168867
|
|
|
NM_001007228.2(SPOP):c.231del (p.Asp77fs)
|
rs2072168797
|
|
|
NM_001007228.2(SPOP):c.236A>G (p.Glu79Gly)
|
rs2072168635
|
|
|
NM_001007228.2(SPOP):c.236A>T (p.Glu79Val)
|
rs2072168635
|
|
|
NM_001007228.2(SPOP):c.238del (p.Ser80fs)
|
rs2072168565
|
|
|
NM_001007228.2(SPOP):c.244G>C (p.Asp82His)
|
rs2072168475
|
|
|
NM_001007228.2(SPOP):c.245del (p.Asp82fs)
|
rs2072168401
|
|
|
NM_001007228.2(SPOP):c.246T>A (p.Asp82Glu)
|
rs2072168323
|
|
|
NM_001007228.2(SPOP):c.247del (p.Tyr83fs)
|
rs2072168249
|
|
|
NM_001007228.2(SPOP):c.250C>T (p.Leu84=)
|
rs780244378
|
|
|
NM_001007228.2(SPOP):c.251delinsGG (p.Leu84fs)
|
rs2072167947
|
|
|
NM_001007228.2(SPOP):c.252del (p.Ser85fs)
|
rs2072167867
|
|
|
NM_001007228.2(SPOP):c.254del (p.Ser85fs)
|
rs2072167784
|
|
|
NM_001007228.2(SPOP):c.254dup (p.Leu86fs)
|
rs2072167703
|
|
|
NM_001007228.2(SPOP):c.255A>T (p.Ser85=)
|
rs2072167477
|
|
|
NM_001007228.2(SPOP):c.255del (p.Leu86fs)
|
rs2072167625
|
|
|
NM_001007228.2(SPOP):c.255dup (p.Leu86fs)
|
rs2072167548
|
|
|
NM_001007228.2(SPOP):c.258T>C (p.Leu86=)
|
rs2072167401
|
|
|
NM_001007228.2(SPOP):c.259T>G (p.Tyr87Asp)
|
rs1057519972
|
|
|
NM_001007228.2(SPOP):c.259dup (p.Tyr87fs)
|
rs2072167329
|
|
|
NM_001007228.2(SPOP):c.260del (p.Tyr87fs)
|
rs2072167144
|
|
|
NM_001007228.2(SPOP):c.260dup (p.Tyr87Ter)
|
rs2072167062
|
|
|
NM_001007228.2(SPOP):c.263T>A (p.Leu88Gln)
|
rs2072166806
|
|
|
NM_001007228.2(SPOP):c.266T>G (p.Leu89Ter)
|
rs2072166478
|
|
|
NM_001007228.2(SPOP):c.266del (p.Leu89fs)
|
rs2072166564
|
|
|
NM_001007228.2(SPOP):c.267A>G (p.Leu89=)
|
rs2072166425
|
|
|
NM_001007228.2(SPOP):c.269del (p.Leu90fs)
|
rs2072166335
|
|
|
NM_001007228.2(SPOP):c.272dup (p.Ser92fs)
|
rs2072166246
|
|
|
NM_001007228.2(SPOP):c.273C>T (p.Val91=)
|
rs2072166000
|
|
|
NM_001007228.2(SPOP):c.273del (p.Ser92fs)
|
rs2072166130
|
|
|
NM_001007228.2(SPOP):c.274del (p.Ser92fs)
|
rs2072165869
|
|
|
NM_001007228.2(SPOP):c.276dup (p.Cys93fs)
|
rs2072165716
|
|
|
NM_001007228.2(SPOP):c.278del (p.Cys93fs)
|
rs2072165503
|
|
|
NM_001007228.2(SPOP):c.280C>T (p.Pro94Ser)
|
rs2072165416
|
|
|
NM_001007228.2(SPOP):c.281del (p.Pro94fs)
|
rs2072165338
|
|
|
NM_001007228.2(SPOP):c.282_283insC (p.Lys95fs)
|
rs2072165251
|
|
|
NM_001007228.2(SPOP):c.284del (p.Lys95fs)
|
rs2072165184
|
|
|
NM_001007228.2(SPOP):c.285dup (p.Ser96fs)
|
rs2072165101
|
|
|
NM_001007228.2(SPOP):c.287del (p.Ser96fs)
|
rs2072165021
|
|
|
NM_001007228.2(SPOP):c.288del (p.Ser96fs)
|
rs2072164911
|
|
|
NM_001007228.2(SPOP):c.289G>A (p.Glu97Lys)
|
rs2072164846
|
|
|
NM_001007228.2(SPOP):c.291A>G (p.Glu97=)
|
rs2072164774
|
|
|
NM_001007228.2(SPOP):c.293T>A (p.Val98Asp)
|
rs2072164630
|
|
|
NM_001007228.2(SPOP):c.295C>T (p.Arg99Trp)
|
rs866898949
|
|
|
NM_001007228.2(SPOP):c.297_298insA (p.Ala100fs)
|
rs2072164479
|
|
|
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)
|
rs193920894
|
|
|
NM_001007228.2(SPOP):c.308A>C (p.Lys103Thr)
|
rs2072164119
|
|
|
NM_001007228.2(SPOP):c.309del (p.Lys103fs)
|
rs2072164040
|
|
|
NM_001007228.2(SPOP):c.315del (p.Ile106fs)
|
rs2072163963
|
|
|
NM_001007228.2(SPOP):c.316del (p.Ile106fs)
|
rs2072163812
|
|
|
NM_001007228.2(SPOP):c.317T>C (p.Ile106Thr)
|
rs2072163730
|
|
|
NM_001007228.2(SPOP):c.321dup (p.Asn108fs)
|
rs2072163565
|
|
|
NM_001007228.2(SPOP):c.325G>T (p.Ala109Ser)
|
rs2072163482
|
|
|
NM_001007228.2(SPOP):c.327C>T (p.Ala109=)
|
rs2072163398
|
|
|
NM_001007228.2(SPOP):c.334G>A (p.Glu112Lys)
|
rs2072163247
|
|
|
NM_001007228.2(SPOP):c.337G>A (p.Glu113Lys)
|
rs2072163144
|
|
|
NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln)
|
rs2072163144
|
|
|
NM_001007228.2(SPOP):c.343A>T (p.Lys115Ter)
|
rs2072162929
|
|
|
NM_001007228.2(SPOP):c.346G>A (p.Ala116Thr)
|
rs2072162818
|
|
|
NM_001007228.2(SPOP):c.346G>C (p.Ala116Pro)
|
rs2072162818
|
|
|
NM_001007228.2(SPOP):c.353-17T>A
|
rs1378635756
|
|
|
NM_001007228.2(SPOP):c.353-19T>G
|
rs2072158937
|
|
|
NM_001007228.2(SPOP):c.353-1G>A
|
rs2072157936
|
|
|
NM_001007228.2(SPOP):c.353-1G>T
|
rs2072157936
|
|
|
NM_001007228.2(SPOP):c.353-1del
|
rs2072157986
|
|
|
NM_001007228.2(SPOP):c.353-21C>A
|
rs2072159085
|
|
|
NM_001007228.2(SPOP):c.353-21C>G
|
rs2072159085
|
|
|
NM_001007228.2(SPOP):c.353-38C>G
|
rs575257727
|
|
|
NM_001007228.2(SPOP):c.353-39G>T
|
rs2072159591
|
|
|
NM_001007228.2(SPOP):c.353-48C>A
|
rs2072159923
|
|
|
NM_001007228.2(SPOP):c.353-51G>T
|
rs572136913
|
|
|
NM_001007228.2(SPOP):c.353-7A>C
|
rs2072158257
|
|
|
NM_001007228.2(SPOP):c.354G>A (p.Glu118=)
|
rs2072157795
|
|
|
NM_001007228.2(SPOP):c.354del (p.Ser119fs)
|
rs2072157870
|
|
|
NM_001007228.2(SPOP):c.355del (p.Ser119fs)
|
rs2072157721
|
|
|
NM_001007228.2(SPOP):c.355dup (p.Ser119fs)
|
rs2072157644
|
|
|
NM_001007228.2(SPOP):c.358del (p.Gln120fs)
|
rs2072157582
|
|
|
NM_001007228.2(SPOP):c.360del (p.Gln120fs)
|
rs2072157510
|
|
|
NM_001007228.2(SPOP):c.361C>T (p.Arg121Trp)
|
rs2072157444
|
|
|
NM_001007228.2(SPOP):c.365C>A (p.Ala122Glu)
|
rs2072157304
|
|
|
NM_001007228.2(SPOP):c.366A>C (p.Ala122=)
|
rs910219777
|
|
|
NM_001007228.2(SPOP):c.373T>C (p.Phe125Leu)
|
rs2072157028
|
|
|
NM_001007228.2(SPOP):c.375T>A (p.Phe125Leu)
|
rs2072156953
|
|
|
NM_001007228.2(SPOP):c.377T>G (p.Val126Gly)
|
rs2072156869
|
|
|
NM_001007228.2(SPOP):c.381A>G (p.Gln127=)
|
rs2072156652
|
|
|
NM_001007228.2(SPOP):c.384C>A (p.Gly128=)
|
rs1464021387
|
|
|
NM_001007228.2(SPOP):c.384C>G (p.Gly128=)
|
rs1464021387
|
|
|
NM_001007228.2(SPOP):c.384del (p.Asp130fs)
|
rs2072156505
|
|
|
NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr)
|
rs2072156282
|
|
|
NM_001007228.2(SPOP):c.388G>A (p.Asp130Asn)
|
rs2072156166
|
|
|
NM_001007228.2(SPOP):c.388G>T (p.Asp130Tyr)
|
rs2072156166
|
|
|
NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.397T>C (p.Phe133Leu)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)
|
rs1057519966
|
|
|
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)
|
rs193921065
|
|
|
NM_001007228.2(SPOP):c.399del (p.Phe133fs)
|
rs2072155403
|
|
|
NM_001007228.2(SPOP):c.400A>C (p.Lys134Gln)
|
rs2072155256
|
|
|
NM_001007228.2(SPOP):c.401A>G (p.Lys134Arg)
|
rs2072155115
|
|
|
NM_001007228.2(SPOP):c.401del (p.Lys134fs)
|
rs2072155189
|
|
|
NM_001007228.2(SPOP):c.402dup (p.Lys135fs)
|
rs2072155041
|
|
|
NM_001007228.2(SPOP):c.408C>A (p.Phe136Leu)
|
rs755810590
|
|
|
NM_001007228.2(SPOP):c.413G>A (p.Arg138His)
|
rs2072154717
|
|
|
NM_001007228.2(SPOP):c.414T>G (p.Arg138=)
|
rs888419251
|
|
|
NM_001007228.2(SPOP):c.416G>A (p.Arg139Lys)
|
rs2072154471
|
|
|
NM_001007228.2(SPOP):c.416del (p.Arg139fs)
|
rs2072154541
|
|
|
NM_001007228.2(SPOP):c.418del (p.Asp140fs)
|
rs2072154321
|
|
|
NM_001007228.2(SPOP):c.419A>C (p.Asp140Ala)
|
rs2072154226
|
|
|
NM_001007228.2(SPOP):c.420T>G (p.Asp140Glu)
|
rs2072154143
|
|
|
NM_001007228.2(SPOP):c.424C>T (p.Leu142Phe)
|
rs2072153959
|
|
|
NM_001007228.2(SPOP):c.427T>A (p.Leu143Met)
|
rs2072153847
|
|
|
NM_001007228.2(SPOP):c.428T>G (p.Leu143Trp)
|
rs1369267775
|
|
|
NM_001007228.2(SPOP):c.429_430del (p.Leu143_Asp144insTer)
|
rs2072153562
|
|
|
NM_001007228.2(SPOP):c.429_430insT (p.Asp144Ter)
|
rs2072153652
|
|
|
NM_001007228.2(SPOP):c.453T>G (p.Pro151=)
|
rs2072152852
|
|
|
NM_001007228.2(SPOP):c.453del (p.Asp152fs)
|
rs2072152923
|
|
|
NM_001007228.2(SPOP):c.454G>A (p.Asp152Asn)
|
rs2072152764
|
|
|
NM_001007228.2(SPOP):c.456T>A (p.Asp152Glu)
|
rs2072152576
|
|
|
NM_001007228.2(SPOP):c.456T>G (p.Asp152Glu)
|
rs2072152576
|
|
|
NM_001007228.2(SPOP):c.456del (p.Asp152fs)
|
rs2072152689
|
|
|
NM_001007228.2(SPOP):c.457del (p.Asp153fs)
|
rs2072152498
|
|
|
NM_001007228.2(SPOP):c.463C>T (p.Leu155Phe)
|
rs2072152422
|
|
|
NM_001007228.2(SPOP):c.464T>A (p.Leu155His)
|
rs2072152352
|
|
|
NM_001007228.2(SPOP):c.466A>C (p.Thr156Pro)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.466A>G (p.Thr156Ala)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.466A>T (p.Thr156Ser)
|
rs2072152226
|
|
|
NM_001007228.2(SPOP):c.469C>T (p.Leu157Phe)
|
rs2072152068
|
|
|
NM_001007228.2(SPOP):c.469del (p.Leu157fs)
|
rs2072152148
|
|
|
NM_001007228.2(SPOP):c.470T>C (p.Leu157Pro)
|
rs2072151912
|
|
|
NM_001007228.2(SPOP):c.470del (p.Leu157fs)
|
rs2072151984
|
|
|
NM_001007228.2(SPOP):c.472T>A (p.Phe158Ile)
|
rs2072151724
|
|
|
NM_001007228.2(SPOP):c.472T>C (p.Phe158Leu)
|
rs2072151724
|
|
|
NM_001007228.2(SPOP):c.473T>A (p.Phe158Tyr)
|
rs2072151628
|
|
|
NM_001007228.2(SPOP):c.473T>G (p.Phe158Cys)
|
rs2072151628
|
|
|
NM_001007228.2(SPOP):c.474C>A (p.Phe158Leu)
|
rs368288966
|
|
|
NM_001007228.2(SPOP):c.474C>G (p.Phe158Leu)
|
rs368288966
|
|
|
NM_001007228.2(SPOP):c.474del (p.Cys159fs)
|
rs2072151553
|
|
|
NM_001007228.2(SPOP):c.475del (p.Cys159fs)
|
rs2072151354
|
|
|
NM_001007228.2(SPOP):c.478G>A (p.Glu160Lys)
|
rs2072151207
|
|
|
NM_001007228.2(SPOP):c.480+1059A>G
|
rs1783574197
|
|
|
NM_001007228.2(SPOP):c.480+1065A>G
|
rs1305745002
|
|
|
NM_001007228.2(SPOP):c.480+1071G>T
|
rs1597921035
|
|
|
NM_001007228.2(SPOP):c.480+17T>G
|
rs2072150446
|
|
|
NM_001007228.2(SPOP):c.480+28G>C
|
rs2072150119
|
|
|
NM_001007228.2(SPOP):c.480+38G>A
|
rs2072149581
|
|
|
NM_001007228.2(SPOP):c.480+39A>T
|
rs2072149513
|
|
|
NM_001007228.2(SPOP):c.480+51T>G
|
rs2072149162
|
|
|
NM_001007228.2(SPOP):c.480+5G>T
|
rs2072151063
|
|
|
NM_001008938.4(CKAP5):c.721A>G (p.Lys241Glu)
|
rs193921076
|
|
|
NM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr)
|
rs193921120
|
|
|
NM_001009925.2(TMEM230):c.152T>C (p.Val51Ala)
|
rs193920937
|
|
|
NM_001012302.3(ANO9):c.2046C>G (p.Asp682Glu)
|
rs193920739
|
|
|
NM_001012426.2(FOXP4):c.-16-161C>A
|
|
|
|
NM_001012426.2(FOXP4):c.-17+129G>C
|
|
|
|
NM_001012426.2(FOXP4):c.-17+229T>C
|
|
|
|
NM_001012426.2(FOXP4):c.511-141G>T
|
|
|
|
NM_001012426.2(FOXP4):c.511-214T>C
|
|
|
|
NM_001018072.2(ABTB3):c.148A>G (p.Ser50Gly)
|
rs200629571
|
|
|
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)
|
rs1601985311
|
|
|
NM_001023.4(RPS20):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_001023.4(RPS20):c.163C>G (p.Arg55Gly)
|
|
|
|
NM_001023.4(RPS20):c.29C>T (p.Pro10Leu)
|
|
|
|
NM_001023.4(RPS20):c.5C>G (p.Ala2Gly)
|
|
|
|
NM_001023.4(RPS20):c.5C>T (p.Ala2Val)
|
rs753426252
|
|
|
NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu)
|
rs193920890
|
|
|
NM_001029864.2(KIAA1755):c.3089G>T (p.Gly1030Val)
|
rs193920749
|
|
|
NM_001032221.6(STXBP1):c.587A>G (p.Lys196Arg)
|
rs193921042
|
|
|
NM_001034954.3(SORBS1):c.3140G>C (p.Arg1047Pro)
|
rs193920900
|
|
|
NM_001039840.4(CHIC1):c.331C>T (p.Pro111Ser)
|
rs864622038
|
|
|
NM_001040108.1(MLH3):c.-202A>C
|
rs886050784
|
|
|
NM_001040108.1(MLH3):c.-208G>A
|
rs886050785
|
|
|
NM_001040108.2(MLH3):c.*1381T>C
|
rs1889846337
|
|
|
NM_001040108.2(MLH3):c.*1452G>T
|
rs886050771
|
|
|
NM_001040108.2(MLH3):c.*1566G>A
|
rs1555386072
|
|
|
NM_001040108.2(MLH3):c.*1628G>A
|
rs571716035
|
|
|
NM_001040108.2(MLH3):c.*1674T>C
|
rs1889836174
|
|
|
NM_001040108.2(MLH3):c.*1701del
|
rs886050770
|
|
|
NM_001040108.2(MLH3):c.*187T>C
|
rs1889916394
|
|
|
NM_001040108.2(MLH3):c.*2058G>T
|
rs190537801
|
|
|
NM_001040108.2(MLH3):c.*2086C>T
|
rs886050768
|
|
|
NM_001040108.2(MLH3):c.*2398C>A
|
rs1889806410
|
|
|
NM_001040108.2(MLH3):c.*2470C>T
|
rs1889802435
|
|
|
NM_001040108.2(MLH3):c.*2495C>T
|
rs1889801175
|
|
|
NM_001040108.2(MLH3):c.*3047G>T
|
rs1033159745
|
|
|
NM_001040108.2(MLH3):c.*3048del
|
rs886050767
|
|
|
NM_001040108.2(MLH3):c.*3094C>T
|
rs1243766498
|
|
|
NM_001040108.2(MLH3):c.*3140C>G
|
rs77514025
|
|
|
NM_001040108.2(MLH3):c.*541A>G
|
rs1889895952
|
|
|
NM_001040108.2(MLH3):c.*563A>G
|
rs765593107
|
|
|
NM_001040108.2(MLH3):c.*744A>G
|
rs886050774
|
|
|
NM_001040108.2(MLH3):c.*755T>C
|
rs1889885062
|
|
|
NM_001040108.2(MLH3):c.*797dup
|
rs886050773
|
|
|
NM_001040108.2(MLH3):c.*884C>G
|
rs1889877324
|
|
|
NM_001040108.2(MLH3):c.*957_*958delinsAT
|
rs386778871
|
|
|
NM_001040108.2(MLH3):c.-120G>A
|
rs886050782
|
|
|
NM_001040108.2(MLH3):c.-27G>A
|
rs886050780
|
|
|
NM_001040108.2(MLH3):c.-63-10dup
|
rs886050781
|
|
|
NM_001040108.2(MLH3):c.1018A>G (p.Ile340Val)
|
|
|
|
NM_001040108.2(MLH3):c.1018A>T (p.Ile340Phe)
|
rs769417120
|
|
|
NM_001040108.2(MLH3):c.1019T>C (p.Ile340Thr)
|
|
|
|
NM_001040108.2(MLH3):c.1021del (p.Gln341fs)
|
|
|
|
NM_001040108.2(MLH3):c.1030G>C (p.Val344Leu)
|
rs758958422
|
|
|
NM_001040108.2(MLH3):c.1067A>C (p.Glu356Ala)
|
|
|
|
NM_001040108.2(MLH3):c.1076G>A (p.Gly359Asp)
|
|
|
|
NM_001040108.2(MLH3):c.1083T>G (p.Asp361Glu)
|
|
|
|
NM_001040108.2(MLH3):c.1108G>T (p.Gly370Cys)
|
|
|
|
NM_001040108.2(MLH3):c.110A>G (p.Glu37Gly)
|
|
|
|
NM_001040108.2(MLH3):c.1141C>T (p.Arg381Cys)
|
rs764089461
|
|
|
NM_001040108.2(MLH3):c.1144G>T (p.Val382Leu)
|
rs558393444
|
|
|
NM_001040108.2(MLH3):c.1153G>A (p.Asp385Asn)
|
rs201389281
|
|
|
NM_001040108.2(MLH3):c.1155T>A (p.Asp385Glu)
|
rs766153014
|
|
|
NM_001040108.2(MLH3):c.1159A>T (p.Arg387Trp)
|
rs1259512716
|
|
|
NM_001040108.2(MLH3):c.1159_1160dup (p.Ser388fs)
|
|
|
|
NM_001040108.2(MLH3):c.1162A>G (p.Ser388Gly)
|
rs1892425627
|
|
|
NM_001040108.2(MLH3):c.1181G>A (p.Cys394Tyr)
|
rs1892424087
|
|
|
NM_001040108.2(MLH3):c.1208T>C (p.Met403Thr)
|
rs1594781410
|
|
|
NM_001040108.2(MLH3):c.1223C>A (p.Ser408Ter)
|
rs745988563
|
|
|
NM_001040108.2(MLH3):c.1223C>T (p.Ser408Leu)
|
rs745988563
|
|
|
NM_001040108.2(MLH3):c.1229C>G (p.Ala410Gly)
|
rs930453949
|
|
|
NM_001040108.2(MLH3):c.1238_1256del (p.Arg413fs)
|
|
|
|
NM_001040108.2(MLH3):c.1239A>C (p.Arg413Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1249G>T (p.Ala417Ser)
|
rs1892420067
|
|
|
NM_001040108.2(MLH3):c.1253A>G (p.Glu418Gly)
|
rs916665768
|
|
|
NM_001040108.2(MLH3):c.1256A>C (p.Asn419Thr)
|
rs1892418940
|
|
|
NM_001040108.2(MLH3):c.1267_1268del (p.Gln423fs)
|
rs1892416579
|
|
|
NM_001040108.2(MLH3):c.127G>A (p.Val43Ile)
|
rs554073121
|
|
|
NM_001040108.2(MLH3):c.1301dup (p.Asn434fs)
|
rs1212794587
|
|
|
NM_001040108.2(MLH3):c.1313C>A (p.Ala438Glu)
|
|
|
|
NM_001040108.2(MLH3):c.1313C>T (p.Ala438Val)
|
|
|
|
NM_001040108.2(MLH3):c.1324A>G (p.Ile442Val)
|
rs1892412042
|
|
|
NM_001040108.2(MLH3):c.1325T>G (p.Ile442Ser)
|
rs2139585598
|
|
|
NM_001040108.2(MLH3):c.1328A>G (p.Tyr443Cys)
|
|
|
|
NM_001040108.2(MLH3):c.132G>T (p.Arg44Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1330G>C (p.Glu444Gln)
|
|
|
|
NM_001040108.2(MLH3):c.1336G>A (p.Gly446Ser)
|
rs1892410798
|
|
|
NM_001040108.2(MLH3):c.1343C>T (p.Pro448Leu)
|
|
|
|
NM_001040108.2(MLH3):c.1352G>A (p.Ser451Asn)
|
rs1566607594
|
|
|
NM_001040108.2(MLH3):c.1352G>C (p.Ser451Thr)
|
rs1566607594
|
|
|
NM_001040108.2(MLH3):c.1362del (p.Glu455fs)
|
|
|
|
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)
|
rs138974583
|
|
|
NM_001040108.2(MLH3):c.1397C>A (p.Ser466Ter)
|
rs1594781006
|
|
|
NM_001040108.2(MLH3):c.1418A>G (p.Gln473Arg)
|
|
|
|
NM_001040108.2(MLH3):c.141G>A (p.Met47Ile)
|
|
|
|
NM_001040108.2(MLH3):c.1424C>A (p.Thr475Lys)
|
rs376219506
|
|
|
NM_001040108.2(MLH3):c.1426A>C (p.Ile476Leu)
|
|
|
|
NM_001040108.2(MLH3):c.1426A>T (p.Ile476Phe)
|
|
|
|
NM_001040108.2(MLH3):c.1436C>T (p.Ser479Leu)
|
rs1892400504
|
|
|
NM_001040108.2(MLH3):c.1453G>C (p.Glu485Gln)
|
|
|
|
NM_001040108.2(MLH3):c.1467dup (p.Ser490fs)
|
rs1555345796
|
|
|
NM_001040108.2(MLH3):c.1468T>C (p.Ser490Pro)
|
rs759885152
|
|
|
NM_001040108.2(MLH3):c.1474C>G (p.Leu492Val)
|
rs28756983
|
|
|
NM_001040108.2(MLH3):c.1480C>T (p.His494Tyr)
|
rs2139582511
|
|
|
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg)
|
rs760778201
|
|
|
NM_001040108.2(MLH3):c.1483A>G (p.Ser495Gly)
|
|
|
|
NM_001040108.2(MLH3):c.1484G>T (p.Ser495Ile)
|
|
|
|
NM_001040108.2(MLH3):c.1493A>G (p.Glu498Gly)
|
rs1892394467
|
|
|
NM_001040108.2(MLH3):c.1496A>G (p.Asn499Ser)
|
rs28937871
|
|
|
NM_001040108.2(MLH3):c.1499C>T (p.Pro500Leu)
|
|
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
|
NM_001040108.2(MLH3):c.1521G>A (p.Met507Ile)
|
rs756756799
|
|
|
NM_001040108.2(MLH3):c.1523T>A (p.Phe508Tyr)
|
rs2139581522
|
|
|
NM_001040108.2(MLH3):c.1530C>A (p.Ser510Arg)
|
|
|
|
NM_001040108.2(MLH3):c.1544C>T (p.Pro515Leu)
|
|
|
|
NM_001040108.2(MLH3):c.1544del (p.Pro515fs)
|
|
|
|
NM_001040108.2(MLH3):c.1549C>G (p.His517Asp)
|
|
|
|
NM_001040108.2(MLH3):c.1549C>T (p.His517Tyr)
|
rs2139580991
|
|
|
NM_001040108.2(MLH3):c.1552T>G (p.Phe518Val)
|
|
|
|
NM_001040108.2(MLH3):c.1564G>A (p.Gly522Arg)
|
rs1594780631
|
|
|
NM_001040108.2(MLH3):c.1567C>A (p.Gln523Lys)
|
rs759903303
|
|
|
NM_001040108.2(MLH3):c.1581A>G (p.Ile527Met)
|
rs1892386824
|
|
|
NM_001040108.2(MLH3):c.1584G>T (p.Trp528Cys)
|
|
|
|
NM_001040108.2(MLH3):c.1589A>G (p.Glu530Gly)
|
rs2139580147
|
|
|
NM_001040108.2(MLH3):c.1592G>A (p.Ser531Asn)
|
|
|
|
NM_001040108.2(MLH3):c.1595C>G (p.Thr532Ser)
|
rs1892385402
|
|
|
NM_001040108.2(MLH3):c.1600G>A (p.Val534Ile)
|
rs772109972
|
|
|
NM_001040108.2(MLH3):c.1604A>G (p.Asn535Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1606G>A (p.Gly536Ser)
|
rs1367614553
|
|
|
NM_001040108.2(MLH3):c.1618A>T (p.Asn540Tyr)
|
|
|
|
NM_001040108.2(MLH3):c.1622T>C (p.Ile541Thr)
|
rs1594780468
|
|
|
NM_001040108.2(MLH3):c.1659A>T (p.Arg553Ser)
|
rs2139578919
|
|
|
NM_001040108.2(MLH3):c.1670C>T (p.Ala557Val)
|
|
|
|
NM_001040108.2(MLH3):c.1676A>C (p.Glu559Ala)
|
|
|
|
NM_001040108.2(MLH3):c.167A>G (p.Asp56Gly)
|
|
|
|
NM_001040108.2(MLH3):c.1697C>A (p.Pro566His)
|
|
|
|
NM_001040108.2(MLH3):c.1702G>A (p.Ala568Thr)
|
|
|
|
NM_001040108.2(MLH3):c.1705A>G (p.Thr569Ala)
|
rs1169722825
|
|
|
NM_001040108.2(MLH3):c.1706C>T (p.Thr569Ile)
|
|
|
|
NM_001040108.2(MLH3):c.170A>G (p.Asn57Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1735A>T (p.Thr579Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1754A>G (p.Lys585Arg)
|
rs1398064873
|
|
|
NM_001040108.2(MLH3):c.1755dup (p.Glu586fs)
|
rs751465048
|
|
|
NM_001040108.2(MLH3):c.1770T>A (p.Cys590Ter)
|
rs769773711
|
|
|
NM_001040108.2(MLH3):c.1778G>A (p.Arg593Lys)
|
rs1892366400
|
|
|
NM_001040108.2(MLH3):c.1779A>T (p.Arg593Ser)
|
rs1060503069
|
|
|
NM_001040108.2(MLH3):c.1780A>G (p.Asn594Asp)
|
|
|
|
NM_001040108.2(MLH3):c.1781A>G (p.Asn594Ser)
|
rs1183390548
|
|
|
NM_001040108.2(MLH3):c.1789A>G (p.Ser597Gly)
|
rs1237005593
|
|
|
NM_001040108.2(MLH3):c.178G>A (p.Gly60Arg)
|
|
|
|
NM_001040108.2(MLH3):c.1790G>T (p.Ser597Ile)
|
rs1892364678
|
|
|
NM_001040108.2(MLH3):c.1792_1794del (p.Tyr598del)
|
rs758459734
|
|
|
NM_001040108.2(MLH3):c.1801G>A (p.Val601Ile)
|
rs1555345589
|
|
|
NM_001040108.2(MLH3):c.1814C>G (p.Ser605Cys)
|
rs1892361991
|
|
|
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe)
|
rs1892361991
|
|
|
NM_001040108.2(MLH3):c.1825A>C (p.Ile609Leu)
|
rs61755654
|
|
|
NM_001040108.2(MLH3):c.1825A>G (p.Ile609Val)
|
rs61755654
|
|
|
NM_001040108.2(MLH3):c.1831C>A (p.His611Asn)
|
|
|
|
NM_001040108.2(MLH3):c.1855A>G (p.Lys619Glu)
|
rs1555345545
|
|
|
NM_001040108.2(MLH3):c.1856A>T (p.Lys619Ile)
|
|
|
|
NM_001040108.2(MLH3):c.1858T>G (p.Ser620Ala)
|
rs878854162
|
|
|
NM_001040108.2(MLH3):c.1861A>T (p.Thr621Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1877C>G (p.Ser626Ter)
|
|
|
|
NM_001040108.2(MLH3):c.1877C>T (p.Ser626Leu)
|
rs370383198
|
|
|
NM_001040108.2(MLH3):c.1879T>C (p.Phe627Leu)
|
rs765493144
|
|
|
NM_001040108.2(MLH3):c.1888T>G (p.Tyr630Asp)
|
|
|
|
NM_001040108.2(MLH3):c.1918G>C (p.Glu640Gln)
|
rs1892352182
|
|
|
NM_001040108.2(MLH3):c.1928G>A (p.Gly643Glu)
|
rs1892351339
|
|
|
NM_001040108.2(MLH3):c.1937C>G (p.Thr646Arg)
|
|
|
|
NM_001040108.2(MLH3):c.193G>C (p.Asp65His)
|
|
|
|
NM_001040108.2(MLH3):c.196G>A (p.Val66Ile)
|
rs2139611483
|
|
|
NM_001040108.2(MLH3):c.1976C>T (p.Ala659Val)
|
|
|
|
NM_001040108.2(MLH3):c.1981A>T (p.Thr661Ser)
|
|
|
|
NM_001040108.2(MLH3):c.1982C>T (p.Thr661Ile)
|
rs1892346320
|
|
|
NM_001040108.2(MLH3):c.1988_1991del (p.Ser663fs)
|
rs775792922
|
|
|
NM_001040108.2(MLH3):c.1A>G (p.Met1Val)
|
|
|
|
NM_001040108.2(MLH3):c.2021dup (p.Asn674fs)
|
rs767782578
|
|
|
NM_001040108.2(MLH3):c.2022T>A (p.Asn674Lys)
|
rs544782025
|
|
|
NM_001040108.2(MLH3):c.2045G>A (p.Gly682Glu)
|
|
|
|
NM_001040108.2(MLH3):c.2069C>T (p.Thr690Ile)
|
rs747315256
|
|
|
NM_001040108.2(MLH3):c.206T>C (p.Val69Ala)
|
rs886050779
|
|
|
NM_001040108.2(MLH3):c.2098G>T (p.Gly700Cys)
|
rs760523617
|
|
|
NM_001040108.2(MLH3):c.2125A>G (p.Ile709Val)
|
|
|
|
NM_001040108.2(MLH3):c.2126T>G (p.Ile709Arg)
|
|
|
|
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=)
|
rs1892333159
|
|
|
NM_001040108.2(MLH3):c.2131T>C (p.Ser711Pro)
|
|
|
|
NM_001040108.2(MLH3):c.2143C>T (p.Pro715Ser)
|
|
|
|
NM_001040108.2(MLH3):c.214C>G (p.Arg72Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2152C>T (p.Pro718Ser)
|
|
|
|
NM_001040108.2(MLH3):c.2154dup (p.Trp719fs)
|
|
|
|
NM_001040108.2(MLH3):c.2157G>A (p.Trp719Ter)
|
rs1566605241
|
|
|
NM_001040108.2(MLH3):c.215G>A (p.Arg72His)
|
|
|
|
NM_001040108.2(MLH3):c.2160T>G (p.Tyr720Ter)
|
rs1892328710
|
|
|
NM_001040108.2(MLH3):c.2161A>G (p.Arg721Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2162G>A (p.Arg721Lys)
|
rs2139568252
|
|
|
NM_001040108.2(MLH3):c.2164C>T (p.His722Tyr)
|
|
|
|
NM_001040108.2(MLH3):c.2168T>C (p.Val723Ala)
|
rs2139568094
|
|
|
NM_001040108.2(MLH3):c.2175T>A (p.Asn725Lys)
|
rs1892326829
|
|
|
NM_001040108.2(MLH3):c.2177A>G (p.Asp726Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2189C>T (p.Thr730Ile)
|
rs1892325359
|
|
|
NM_001040108.2(MLH3):c.2208C>A (p.Phe736Leu)
|
|
|
|
NM_001040108.2(MLH3):c.2210C>G (p.Ser737Cys)
|
rs2139567278
|
|
|
NM_001040108.2(MLH3):c.2216C>T (p.Pro739Leu)
|
rs757038362
|
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
|
NM_001040108.2(MLH3):c.2224C>G (p.Arg742Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2254G>A (p.Gly752Arg)
|
rs906500178
|
|
|
NM_001040108.2(MLH3):c.2266A>C (p.Lys756Gln)
|
|
|
|
NM_001040108.2(MLH3):c.2280A>G (p.Gln760=)
|
rs1892316286
|
|
|
NM_001040108.2(MLH3):c.2284G>A (p.Gly762Arg)
|
rs1394752072
|
|
|
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
|
|
|
|
NM_001040108.2(MLH3):c.2313A>T (p.Glu771Asp)
|
|
|
|
NM_001040108.2(MLH3):c.2337dup (p.Thr780fs)
|
|
|
|
NM_001040108.2(MLH3):c.2345T>C (p.Leu782Pro)
|
rs1892311173
|
|
|
NM_001040108.2(MLH3):c.2347A>C (p.Ser783Arg)
|
|
|
|
NM_001040108.2(MLH3):c.236A>T (p.His79Leu)
|
rs753528013
|
|
|
NM_001040108.2(MLH3):c.2381A>G (p.Asp794Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2383A>G (p.Lys795Glu)
|
|
|
|
NM_001040108.2(MLH3):c.2395G>C (p.Glu799Gln)
|
rs1892306512
|
|
|
NM_001040108.2(MLH3):c.239C>T (p.Ser80Leu)
|
|
|
|
NM_001040108.2(MLH3):c.2411G>A (p.Cys804Tyr)
|
rs2139563242
|
|
|
NM_001040108.2(MLH3):c.2413A>G (p.Lys805Glu)
|
|
|
|
NM_001040108.2(MLH3):c.2422A>G (p.Thr808Ala)
|
rs1892304501
|
|
|
NM_001040108.2(MLH3):c.242T>C (p.Val81Ala)
|
|
|
|
NM_001040108.2(MLH3):c.2432A>G (p.His811Arg)
|
rs1892303572
|
|
|
NM_001040108.2(MLH3):c.2444A>T (p.Asp815Val)
|
|
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
|
NM_001040108.2(MLH3):c.2487G>T (p.Lys829Asn)
|
|
|
|
NM_001040108.2(MLH3):c.2488T>C (p.Phe830Leu)
|
rs1892298729
|
|
|
NM_001040108.2(MLH3):c.2495T>C (p.Phe832Ser)
|
|
|
|
NM_001040108.2(MLH3):c.2496C>A (p.Phe832Leu)
|
|
|
|
NM_001040108.2(MLH3):c.2500A>G (p.Lys834Glu)
|
|
|
|
NM_001040108.2(MLH3):c.2503G>A (p.Asp835Asn)
|
rs766153131
|
|
|
NM_001040108.2(MLH3):c.2529G>A (p.Met843Ile)
|
|
|
|
NM_001040108.2(MLH3):c.2542_2543del (p.Glu848fs)
|
|
|
|
NM_001040108.2(MLH3):c.2543A>G (p.Glu848Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2555C>T (p.Thr852Ile)
|
rs1594777802
|
|
|
NM_001040108.2(MLH3):c.2591dup (p.Leu864fs)
|
|
|
|
NM_001040108.2(MLH3):c.2596C>G (p.Leu866Val)
|
|
|
|
NM_001040108.2(MLH3):c.2600A>G (p.Glu867Gly)
|
rs1892287229
|
|
|
NM_001040108.2(MLH3):c.2602A>G (p.Lys868Glu)
|
|
|
|
NM_001040108.2(MLH3):c.260C>G (p.Pro87Arg)
|
|
|
|
NM_001040108.2(MLH3):c.260C>T (p.Pro87Leu)
|
|
|
|
NM_001040108.2(MLH3):c.2633C>G (p.Ser878Cys)
|
|
|
|
NM_001040108.2(MLH3):c.2636G>C (p.Arg879Thr)
|
|
|
|
NM_001040108.2(MLH3):c.2641A>C (p.Lys881Gln)
|
rs766431474
|
|
|
NM_001040108.2(MLH3):c.2644G>C (p.Gly882Arg)
|
|
|
|
NM_001040108.2(MLH3):c.2660C>T (p.Thr887Ile)
|
rs1595084498
|
|
|
NM_001040108.2(MLH3):c.2676G>C (p.Met892Ile)
|
|
|
|
NM_001040108.2(MLH3):c.2680A>G (p.Ser894Gly)
|
rs141067131
|
|
|
NM_001040108.2(MLH3):c.2683C>T (p.Arg895Cys)
|
|
|
|
NM_001040108.2(MLH3):c.2683del (p.Arg895fs)
|
|
|
|
NM_001040108.2(MLH3):c.2701A>G (p.Asn901Asp)
|
|
|
|
NM_001040108.2(MLH3):c.2702A>G (p.Asn901Ser)
|
|
|
|
NM_001040108.2(MLH3):c.2710_2889del (p.Ser904_Cys963del)
|
rs1892262638
|
|
|
NM_001040108.2(MLH3):c.2713A>G (p.Ser905Gly)
|
rs1595084225
|
|
|
NM_001040108.2(MLH3):c.2717G>C (p.Arg906Thr)
|
|
|
|
NM_001040108.2(MLH3):c.2726G>C (p.Ser909Thr)
|
rs1349770908
|
|
|
NM_001040108.2(MLH3):c.2741T>A (p.Val914Glu)
|
|
|
|
NM_001040108.2(MLH3):c.2753A>G (p.Asp918Gly)
|
|
|
|
NM_001040108.2(MLH3):c.2758T>C (p.Cys920Arg)
|
|
|
|
NM_001040108.2(MLH3):c.2768T>G (p.Phe923Cys)
|
|
|
|
NM_001040108.2(MLH3):c.277C>T (p.Arg93Ter)
|
rs28756978
|
|
|
NM_001040108.2(MLH3):c.2785A>G (p.Lys929Glu)
|
rs2139555775
|
|
|
NM_001040108.2(MLH3):c.2793G>C (p.Glu931Asp)
|
|
|
|
NM_001040108.2(MLH3):c.2793_2794del (p.Asn932fs)
|
rs754716792
|
|
|
NM_001040108.2(MLH3):c.2795A>G (p.Asn932Ser)
|
|
|
|
NM_001040108.2(MLH3):c.2800G>A (p.Val934Ile)
|
|
|
|
NM_001040108.2(MLH3):c.281G>A (p.Gly94Glu)
|
rs759973402
|
|
|
NM_001040108.2(MLH3):c.2837C>T (p.Ser946Phe)
|
rs201441389
|
|
|
NM_001040108.2(MLH3):c.2842A>C (p.Asn948His)
|
rs1892266280
|
|
|
NM_001040108.2(MLH3):c.285G>C (p.Glu95Asp)
|
rs369067732
|
|
|
NM_001040108.2(MLH3):c.2870G>A (p.Ser957Asn)
|
|
|
|
NM_001040108.2(MLH3):c.2887T>C (p.Cys963Arg)
|
|
|
|
NM_001040108.2(MLH3):c.2887T>G (p.Cys963Gly)
|
rs1892263113
|
|
|
NM_001040108.2(MLH3):c.2888G>C (p.Cys963Ser)
|
|
|
|
NM_001040108.2(MLH3):c.2890G>A (p.Val964Met)
|
|
|
|
NM_001040108.2(MLH3):c.2896T>A (p.Ser966Thr)
|
|
|
|
NM_001040108.2(MLH3):c.2902del (p.Thr968fs)
|
rs780017030
|
|
|
NM_001040108.2(MLH3):c.2911G>C (p.Val971Leu)
|
rs41555714
|
|
|
NM_001040108.2(MLH3):c.2923A>G (p.Asn975Asp)
|
|
|
|
NM_001040108.2(MLH3):c.2929T>G (p.Ser977Ala)
|
rs747777498
|
|
|
NM_001040108.2(MLH3):c.2937del (p.Thr980fs)
|
rs758226404
|
|
|
NM_001040108.2(MLH3):c.2953G>A (p.Asp985Asn)
|
rs1566602747
|
|
|
NM_001040108.2(MLH3):c.2954A>C (p.Asp985Ala)
|
rs761266398
|
|
|
NM_001040108.2(MLH3):c.2956G>A (p.Val986Ile)
|
rs1892251952
|
|
|
NM_001040108.2(MLH3):c.2962A>G (p.Ile988Val)
|
|
|
|
NM_001040108.2(MLH3):c.2984T>C (p.Ile995Thr)
|
|
|
|
NM_001040108.2(MLH3):c.2986G>A (p.Gly996Arg)
|
|
|
|
NM_001040108.2(MLH3):c.2987G>A (p.Gly996Glu)
|
rs886050775
|
|
|
NM_001040108.2(MLH3):c.2989A>C (p.Ser997Arg)
|
rs2139550718
|
|
|
NM_001040108.2(MLH3):c.3022C>G (p.Pro1008Ala)
|
rs2139550006
|
|
|
NM_001040108.2(MLH3):c.3023C>T (p.Pro1008Leu)
|
|
|
|
NM_001040108.2(MLH3):c.3029A>G (p.Glu1010Gly)
|
rs1555344919
|
|
|
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr)
|
rs1057518875
|
|
|
NM_001040108.2(MLH3):c.3035C>T (p.Ala1012Val)
|
|
|
|
NM_001040108.2(MLH3):c.3047A>T (p.Gln1016Leu)
|
|
|
|
NM_001040108.2(MLH3):c.304G>A (p.Asp102Asn)
|
|
|
|
NM_001040108.2(MLH3):c.3052G>A (p.Gly1018Arg)
|
|
|
|
NM_001040108.2(MLH3):c.3053G>T (p.Gly1018Val)
|
|
|
|
NM_001040108.2(MLH3):c.305A>G (p.Asp102Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3065del (p.Gln1022fs)
|
rs1566602423
|
|
|
NM_001040108.2(MLH3):c.3068G>A (p.Ser1023Asn)
|
rs1480199553
|
|
|
NM_001040108.2(MLH3):c.3106G>C (p.Glu1036Gln)
|
rs1555344886
|
|
|
NM_001040108.2(MLH3):c.3113dup (p.Asn1038fs)
|
|
|
|
NM_001040108.2(MLH3):c.3116C>T (p.Thr1039Met)
|
|
|
|
NM_001040108.2(MLH3):c.3132G>A (p.Trp1044Ter)
|
|
|
|
NM_001040108.2(MLH3):c.3148G>A (p.Val1050Ile)
|
|
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
|
NM_001040108.2(MLH3):c.3164T>C (p.Met1055Thr)
|
rs1026561200
|
|
|
NM_001040108.2(MLH3):c.3164T>G (p.Met1055Arg)
|
rs1026561200
|
|
|
NM_001040108.2(MLH3):c.3173T>G (p.Val1058Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3194G>A (p.Ser1065Asn)
|
rs1355183567
|
|
|
NM_001040108.2(MLH3):c.31G>A (p.Ala11Thr)
|
rs2139615082
|
|
|
NM_001040108.2(MLH3):c.3211A>G (p.Thr1071Ala)
|
rs1595082664
|
|
|
NM_001040108.2(MLH3):c.3220A>T (p.Ile1074Phe)
|
|
|
|
NM_001040108.2(MLH3):c.3226G>A (p.Ala1076Thr)
|
|
|
|
NM_001040108.2(MLH3):c.3226G>C (p.Ala1076Pro)
|
|
|
|
NM_001040108.2(MLH3):c.3230C>T (p.Ala1077Val)
|
|
|
|
NM_001040108.2(MLH3):c.3238A>C (p.Lys1080Gln)
|
rs747582919
|
|
|
NM_001040108.2(MLH3):c.3238A>G (p.Lys1080Glu)
|
|
|
|
NM_001040108.2(MLH3):c.3254T>C (p.Val1085Ala)
|
rs1204014345
|
|
|
NM_001040108.2(MLH3):c.3274G>A (p.Glu1092Lys)
|
|
|
|
NM_001040108.2(MLH3):c.3280+4A>G
|
rs755203976
|
|
|
NM_001040108.2(MLH3):c.3292A>G (p.Arg1098Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3292del (p.Arg1098fs)
|
|
|
|
NM_001040108.2(MLH3):c.3294G>C (p.Arg1098Ser)
|
|
|
|
NM_001040108.2(MLH3):c.3294G>T (p.Arg1098Ser)
|
rs1060503068
|
|
|
NM_001040108.2(MLH3):c.3302C>A (p.Pro1101His)
|
|
|
|
NM_001040108.2(MLH3):c.3310A>C (p.Ser1104Arg)
|
rs1595075344
|
|
|
NM_001040108.2(MLH3):c.3316C>T (p.Leu1106Phe)
|
|
|
|
NM_001040108.2(MLH3):c.3344G>C (p.Arg1115Pro)
|
|
|
|
NM_001040108.2(MLH3):c.3347C>G (p.Ala1116Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3355A>G (p.Thr1119Ala)
|
|
|
|
NM_001040108.2(MLH3):c.3358G>A (p.Val1120Met)
|
|
|
|
NM_001040108.2(MLH3):c.3359_3360del (p.Val1120fs)
|
rs763171207
|
|
|
NM_001040108.2(MLH3):c.3368A>C (p.Gln1123Pro)
|
|
|
|
NM_001040108.2(MLH3):c.3374A>G (p.Asn1125Ser)
|
rs2139504673
|
|
|
NM_001040108.2(MLH3):c.3377G>C (p.Arg1126Thr)
|
|
|
|
NM_001040108.2(MLH3):c.3379+4A>C
|
rs1309915500
|
|
|
NM_001040108.2(MLH3):c.3379+4A>G
|
|
|
|
NM_001040108.2(MLH3):c.3379G>T (p.Asp1127Tyr)
|
rs1891914283
|
|
|
NM_001040108.2(MLH3):c.3381T>A (p.Asp1127Glu)
|
|
|
|
NM_001040108.2(MLH3):c.3389A>G (p.Asp1130Gly)
|
rs1891868618
|
|
|
NM_001040108.2(MLH3):c.3400A>G (p.Ser1134Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3404G>A (p.Ser1135Asn)
|
rs1595073793
|
|
|
NM_001040108.2(MLH3):c.3405C>A (p.Ser1135Arg)
|
|
|
|
NM_001040108.2(MLH3):c.3405_3406delinsTC (p.Glu1136Gln)
|
|
|
|
NM_001040108.2(MLH3):c.3410C>T (p.Ser1137Leu)
|
rs781462940
|
|
|
NM_001040108.2(MLH3):c.3413T>C (p.Leu1138Pro)
|
rs1566596824
|
|
|
NM_001040108.2(MLH3):c.3428C>G (p.Ser1143Ter)
|
rs1891864615
|
|
|
NM_001040108.2(MLH3):c.3451G>C (p.Ala1151Pro)
|
rs1891862567
|
|
|
NM_001040108.2(MLH3):c.3451G>T (p.Ala1151Ser)
|
|
|
|
NM_001040108.2(MLH3):c.3452C>T (p.Ala1151Val)
|
rs1555344011
|
|
|
NM_001040108.2(MLH3):c.3454C>T (p.Arg1152Cys)
|
|
|
|
NM_001040108.2(MLH3):c.3465+14A>G
|
rs775972214
|
|
|
NM_001040108.2(MLH3):c.3465+3G>A
|
|
|
|
NM_001040108.2(MLH3):c.3465+4G>T
|
|
|
|
NM_001040108.2(MLH3):c.3466-2A>G
|
|
|
|
NM_001040108.2(MLH3):c.3475G>C (p.Asp1159His)
|
rs755836944
|
|
|
NM_001040108.2(MLH3):c.3478G>A (p.Val1160Ile)
|
|
|
|
NM_001040108.2(MLH3):c.349A>G (p.Met117Val)
|
|
|
|
NM_001040108.2(MLH3):c.34A>G (p.Lys12Glu)
|
rs1892532750
|
|
|
NM_001040108.2(MLH3):c.3503T>C (p.Leu1168Ser)
|
|
|
|
NM_001040108.2(MLH3):c.3508G>A (p.Val1170Ile)
|
rs2139474091
|
|
|
NM_001040108.2(MLH3):c.3518ACA[1] (p.Asn1174del)
|
rs2139473855
|
|
|
NM_001040108.2(MLH3):c.3531T>A (p.Tyr1177Ter)
|
rs2139473674
|
|
|
NM_001040108.2(MLH3):c.3533C>T (p.Pro1178Leu)
|
|
|
|
NM_001040108.2(MLH3):c.3536A>G (p.Tyr1179Cys)
|
rs1891720886
|
|
|
NM_001040108.2(MLH3):c.3538C>G (p.Arg1180Gly)
|
rs761024324
|
|
|
NM_001040108.2(MLH3):c.3548A>G (p.Lys1183Arg)
|
|
|
|
NM_001040108.2(MLH3):c.3551G>A (p.Gly1184Glu)
|
|
|
|
NM_001040108.2(MLH3):c.3554T>A (p.Met1185Lys)
|
|
|
|
NM_001040108.2(MLH3):c.356C>T (p.Thr119Ile)
|
rs2139607474
|
|
|
NM_001040108.2(MLH3):c.3571-1G>T
|
|
|
|
NM_001040108.2(MLH3):c.3578A>G (p.Gln1193Arg)
|
rs1891571171
|
|
|
NM_001040108.2(MLH3):c.3583G>A (p.Val1195Ile)
|
rs1891570676
|
|
|
NM_001040108.2(MLH3):c.3584T>C (p.Val1195Ala)
|
|
|
|
NM_001040108.2(MLH3):c.3584T>G (p.Val1195Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3589A>C (p.Asn1197His)
|
|
|
|
NM_001040108.2(MLH3):c.3608T>C (p.Leu1203Ser)
|
rs761468610
|
|
|
NM_001040108.2(MLH3):c.3616A>G (p.Thr1206Ala)
|
|
|
|
NM_001040108.2(MLH3):c.3640G>A (p.Ala1214Thr)
|
rs2139454669
|
|
|
NM_001040108.2(MLH3):c.3643+5G>A
|
rs2139454564
|
|
|
NM_001040108.2(MLH3):c.3648G>T (p.Gly1216=)
|
|
|
|
NM_001040108.2(MLH3):c.3653T>A (p.Leu1218Gln)
|
rs1208714560
|
|
|
NM_001040108.2(MLH3):c.3664G>A (p.Val1222Met)
|
|
|
|
NM_001040108.2(MLH3):c.3695G>A (p.Arg1232His)
|
|
|
|
NM_001040108.2(MLH3):c.3712A>G (p.Ile1238Val)
|
rs2139412376
|
|
|
NM_001040108.2(MLH3):c.3713T>C (p.Ile1238Thr)
|
|
|
|
NM_001040108.2(MLH3):c.3715+1G>A
|
rs1595056532
|
|
|
NM_001040108.2(MLH3):c.3715G>A (p.Asp1239Asn)
|
|
|
|
NM_001040108.2(MLH3):c.3725A>G (p.Glu1242Gly)
|
|
|
|
NM_001040108.2(MLH3):c.3740A>T (p.Gln1247Leu)
|
rs909033868
|
|
|
NM_001040108.2(MLH3):c.3749G>A (p.Gly1250Asp)
|
rs931917554
|
|
|
NM_001040108.2(MLH3):c.3770C>G (p.Ser1257Cys)
|
rs2139401367
|
|
|
NM_001040108.2(MLH3):c.3772A>G (p.Thr1258Ala)
|
|
|
|
NM_001040108.2(MLH3):c.3775C>A (p.Leu1259Ile)
|
|
|
|
NM_001040108.2(MLH3):c.3775C>G (p.Leu1259Val)
|
|
|
|
NM_001040108.2(MLH3):c.3781C>T (p.Pro1261Ser)
|
rs1891088976
|
|
|
NM_001040108.2(MLH3):c.3785C>T (p.Pro1262Leu)
|
|
|
|
NM_001040108.2(MLH3):c.3790G>A (p.Glu1264Lys)
|
rs760000437
|
|
|
NM_001040108.2(MLH3):c.3799G>A (p.Val1267Met)
|
rs1019973266
|
|
|
NM_001040108.2(MLH3):c.3803C>A (p.Thr1268Lys)
|
|
|
|
NM_001040108.2(MLH3):c.3803C>G (p.Thr1268Arg)
|
|
|
|
NM_001040108.2(MLH3):c.3827+1G>C
|
|
|
|
NM_001040108.2(MLH3):c.3827+20T>G
|
|
|
|
NM_001040108.2(MLH3):c.3828-7T>A
|
|
|
|
NM_001040108.2(MLH3):c.3830G>C (p.Cys1277Ser)
|
|
|
|
NM_001040108.2(MLH3):c.3840A>C (p.Lys1280Asn)
|
rs918215098
|
|
|
NM_001040108.2(MLH3):c.3841A>G (p.Asn1281Asp)
|
|
|
|
NM_001040108.2(MLH3):c.3863A>C (p.Glu1288Ala)
|
|
|
|
NM_001040108.2(MLH3):c.3890C>A (p.Ser1297Tyr)
|
|
|
|
NM_001040108.2(MLH3):c.3893_3894insAGAG (p.Val1299fs)
|
|
|
|
NM_001040108.2(MLH3):c.3898C>G (p.Leu1300Val)
|
rs2139385883
|
|
|
NM_001040108.2(MLH3):c.3901G>A (p.Val1301Met)
|
|
|
|
NM_001040108.2(MLH3):c.3903G>A (p.Val1301=)
|
|
|
|
NM_001040108.2(MLH3):c.3904G>A (p.Gly1302Arg)
|
|
|
|
NM_001040108.2(MLH3):c.3922_3926del (p.Phe1308fs)
|
|
|
|
NM_001040108.2(MLH3):c.3928G>C (p.Glu1310Gln)
|
rs1595050855
|
|
|
NM_001040108.2(MLH3):c.3935A>C (p.Glu1312Ala)
|
rs1890982249
|
|
|
NM_001040108.2(MLH3):c.3943G>A (p.Glu1315Lys)
|
|
|
|
NM_001040108.2(MLH3):c.3949C>T (p.Arg1317Trp)
|
|
|
|
NM_001040108.2(MLH3):c.3959G>T (p.Arg1320Ile)
|
|
|
|
NM_001040108.2(MLH3):c.397T>G (p.Cys133Gly)
|
rs1555346244
|
|
|
NM_001040108.2(MLH3):c.3983T>C (p.Val1328Ala)
|
rs1890975310
|
|
|
NM_001040108.2(MLH3):c.3988G>A (p.Glu1330Lys)
|
rs1890393091
|
|
|
NM_001040108.2(MLH3):c.3997del (p.Arg1333fs)
|
|
|
|
NM_001040108.2(MLH3):c.3998G>A (p.Arg1333Gln)
|
|
|
|
NM_001040108.2(MLH3):c.4001A>G (p.Glu1334Gly)
|
rs1555387525
|
|
|
NM_001040108.2(MLH3):c.4005A>T (p.Gln1335His)
|
|
|
|
NM_001040108.2(MLH3):c.4009G>A (p.Glu1337Lys)
|
rs1595034312
|
|
|
NM_001040108.2(MLH3):c.4042A>G (p.Thr1348Ala)
|
rs1890379975
|
|
|
NM_001040108.2(MLH3):c.4063A>G (p.Lys1355Glu)
|
|
|
|
NM_001040108.2(MLH3):c.4088A>G (p.His1363Arg)
|
|
|
|
NM_001040108.2(MLH3):c.4090+2T>C
|
rs1890375980
|
|
|
NM_001040108.2(MLH3):c.4091-2A>C
|
rs906969002
|
|
|
NM_001040108.2(MLH3):c.4117A>C (p.Ser1373Arg)
|
|
|
|
NM_001040108.2(MLH3):c.412A>G (p.Thr138Ala)
|
|
|
|
NM_001040108.2(MLH3):c.4150C>G (p.Leu1384Val)
|
rs1025736417
|
|
|
NM_001040108.2(MLH3):c.4150_4151del (p.Leu1384fs)
|
rs1162704717
|
|
|
NM_001040108.2(MLH3):c.4163A>G (p.Gln1388Arg)
|
|
|
|
NM_001040108.2(MLH3):c.4163A>T (p.Gln1388Leu)
|
|
|
|
NM_001040108.2(MLH3):c.4175A>G (p.Gln1392Arg)
|
|
|
|
NM_001040108.2(MLH3):c.4176G>C (p.Gln1392His)
|
|
|
|
NM_001040108.2(MLH3):c.4176G>T (p.Gln1392His)
|
|
|
|
NM_001040108.2(MLH3):c.4190G>A (p.Arg1397Lys)
|
|
|
|
NM_001040108.2(MLH3):c.4193C>T (p.Pro1398Leu)
|
|
|
|
NM_001040108.2(MLH3):c.4195_4197del (p.Ser1399del)
|
|
|
|
NM_001040108.2(MLH3):c.4198A>G (p.Met1400Val)
|
rs375559867
|
|
|
NM_001040108.2(MLH3):c.4199T>C (p.Met1400Thr)
|
|
|
|
NM_001040108.2(MLH3):c.4217_4218del (p.Ile1406fs)
|
rs1410621557
|
|
|
NM_001040108.2(MLH3):c.4225T>G (p.Leu1409Val)
|
rs1890074696
|
|
|
NM_001040108.2(MLH3):c.4238_4242+1dup
|
|
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
|
NM_001040108.2(MLH3):c.424G>A (p.Ala142Thr)
|
rs745639930
|
|
|
NM_001040108.2(MLH3):c.424G>T (p.Ala142Ser)
|
rs745639930
|
|
|
NM_001040108.2(MLH3):c.4258A>G (p.Thr1420Ala)
|
|
|
|
NM_001040108.2(MLH3):c.425C>T (p.Ala142Val)
|
rs1892494189
|
|
|
NM_001040108.2(MLH3):c.4267C>T (p.Arg1423Cys)
|
|
|
|
NM_001040108.2(MLH3):c.4273A>G (p.Met1425Val)
|
|
|
|
NM_001040108.2(MLH3):c.4275G>C (p.Met1425Ile)
|
|
|
|
NM_001040108.2(MLH3):c.4275G>T (p.Met1425Ile)
|
|
|
|
NM_001040108.2(MLH3):c.4276G>T (p.Ala1426Ser)
|
|
|
|
NM_001040108.2(MLH3):c.4281_4282delinsCA (p.Gln1427_Ala1428delinsHisThr)
|
|
|
|
NM_001040108.2(MLH3):c.4284_4291del (p.Trp1429fs)
|
|
|
|
NM_001040108.2(MLH3):c.4288C>T (p.Arg1430Cys)
|
rs987273805
|
|
|
NM_001040108.2(MLH3):c.4289G>T (p.Arg1430Leu)
|
rs760305520
|
|
|
NM_001040108.2(MLH3):c.4289_4293del (p.Arg1430fs)
|
rs1450109980
|
|
|
NM_001040108.2(MLH3):c.4291C>T (p.Leu1431Phe)
|
|
|
|
NM_001040108.2(MLH3):c.4307A>T (p.Glu1436Val)
|
rs1297572379
|
|
|
NM_001040108.2(MLH3):c.4324A>G (p.Ser1442Gly)
|
rs368866849
|
|
|
NM_001040108.2(MLH3):c.4335A>T (p.Gln1445His)
|
|
|
|
NM_001040108.2(MLH3):c.4351G>C (p.Glu1451Gln)
|
rs28939071
|
|
|
NM_001040108.2(MLH3):c.4354C>T (p.Pro1452Ser)
|
|
|
|
NM_001040108.2(MLH3):c.4357C>T (p.Pro1453Ser)
|
rs1889930562
|
|
|
NM_001040108.2(MLH3):c.4358C>T (p.Pro1453Leu)
|
|
|
|
NM_001040108.2(MLH3):c.440C>T (p.Thr147Ile)
|
|
|
|
NM_001040108.2(MLH3):c.454T>G (p.Phe152Val)
|
rs750745575
|
|
|
NM_001040108.2(MLH3):c.470T>C (p.Val157Ala)
|
rs1892490042
|
|
|
NM_001040108.2(MLH3):c.476G>A (p.Arg159Lys)
|
rs1892489444
|
|
|
NM_001040108.2(MLH3):c.476G>C (p.Arg159Thr)
|
rs1892489444
|
|
|
NM_001040108.2(MLH3):c.486G>A (p.Met162Ile)
|
rs2139605007
|
|
|
NM_001040108.2(MLH3):c.487dup (p.Asp163fs)
|
rs1566609884
|
|
|
NM_001040108.2(MLH3):c.510G>T (p.Lys170Asn)
|
|
|
|
NM_001040108.2(MLH3):c.511G>T (p.Val171Phe)
|
rs2139604418
|
|
|
NM_001040108.2(MLH3):c.519G>C (p.Gln173His)
|
rs1060503070
|
|
|
NM_001040108.2(MLH3):c.526G>C (p.Glu176Gln)
|
|
|
|
NM_001040108.2(MLH3):c.529G>A (p.Ala177Thr)
|
rs1176881826
|
|
|
NM_001040108.2(MLH3):c.548C>T (p.Pro183Leu)
|
|
|
|
NM_001040108.2(MLH3):c.552del (p.Ile185fs)
|
|
|
|
NM_001040108.2(MLH3):c.561C>G (p.Phe187Leu)
|
rs1892481050
|
|
|
NM_001040108.2(MLH3):c.574G>T (p.Asp192Tyr)
|
|
|
|
NM_001040108.2(MLH3):c.615del (p.Asp206fs)
|
rs746171271
|
|
|
NM_001040108.2(MLH3):c.620T>C (p.Val207Ala)
|
rs1892474385
|
|
|
NM_001040108.2(MLH3):c.622T>C (p.Cys208Arg)
|
rs770150549
|
|
|
NM_001040108.2(MLH3):c.651G>C (p.Leu217Phe)
|
|
|
|
NM_001040108.2(MLH3):c.662A>G (p.Gln221Arg)
|
|
|
|
NM_001040108.2(MLH3):c.666G>C (p.Lys222Asn)
|
|
|
|
NM_001040108.2(MLH3):c.671G>A (p.Arg224Lys)
|
|
|
|
NM_001040108.2(MLH3):c.680G>A (p.Ser227Asn)
|
|
|
|
NM_001040108.2(MLH3):c.683T>G (p.Phe228Cys)
|
|
|
|
NM_001040108.2(MLH3):c.702G>C (p.Glu234Asp)
|
|
|
|
NM_001040108.2(MLH3):c.707G>A (p.Ser236Asn)
|
rs1594782527
|
|
|
NM_001040108.2(MLH3):c.713A>G (p.Tyr238Cys)
|
rs144707485
|
|
|
NM_001040108.2(MLH3):c.715A>G (p.Ile239Val)
|
rs568118559
|
|
|
NM_001040108.2(MLH3):c.716T>G (p.Ile239Ser)
|
|
|
|
NM_001040108.2(MLH3):c.71A>G (p.Gln24Arg)
|
rs2139614337
|
|
|
NM_001040108.2(MLH3):c.724G>A (p.Glu242Lys)
|
rs1892465052
|
|
|
NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)
|
rs774010757
|
|
|
NM_001040108.2(MLH3):c.743A>G (p.Asn248Ser)
|
rs1358270074
|
|
|
NM_001040108.2(MLH3):c.749A>G (p.Gln250Arg)
|
|
|
|
NM_001040108.2(MLH3):c.758_761del (p.Leu252_Phe253insTer)
|
|
|
|
NM_001040108.2(MLH3):c.76G>T (p.Val26Phe)
|
rs964651295
|
|
|
NM_001040108.2(MLH3):c.782G>A (p.Arg261Lys)
|
|
|
|
NM_001040108.2(MLH3):c.782G>T (p.Arg261Met)
|
rs2139599422
|
|
|
NM_001040108.2(MLH3):c.787A>T (p.Lys263Ter)
|
|
|
|
NM_001040108.2(MLH3):c.799C>G (p.Leu267Val)
|
|
|
|
NM_001040108.2(MLH3):c.825A>C (p.Glu275Asp)
|
rs1040135404
|
|
|
NM_001040108.2(MLH3):c.826del (p.Ser276fs)
|
rs2139598363
|
|
|
NM_001040108.2(MLH3):c.828TAT[1] (p.Ile278del)
|
rs2139598111
|
|
|
NM_001040108.2(MLH3):c.829A>G (p.Ile277Val)
|
rs2139598210
|
|
|
NM_001040108.2(MLH3):c.832A>T (p.Ile278Leu)
|
rs753294129
|
|
|
NM_001040108.2(MLH3):c.833T>C (p.Ile278Thr)
|
|
|
|
NM_001040108.2(MLH3):c.842C>G (p.Pro281Arg)
|
|
|
|
NM_001040108.2(MLH3):c.844A>T (p.Lys282Ter)
|
rs2139597638
|
|
|
NM_001040108.2(MLH3):c.848A>G (p.Asn283Ser)
|
rs1336838076
|
|
|
NM_001040108.2(MLH3):c.868A>G (p.Met290Val)
|
rs1594782103
|
|
|
NM_001040108.2(MLH3):c.880C>G (p.Leu294Val)
|
rs372192067
|
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
|
NM_001040108.2(MLH3):c.886C>T (p.His296Tyr)
|
rs2139595991
|
|
|
NM_001040108.2(MLH3):c.910G>A (p.Gly304Ser)
|
|
|
|
NM_001040108.2(MLH3):c.917A>G (p.Tyr306Cys)
|
rs2139594612
|
|
|
NM_001040108.2(MLH3):c.946G>C (p.Glu316Gln)
|
|
|
|
NM_001040108.2(MLH3):c.950ATG[1] (p.Asp318del)
|
rs1892443767
|
|
|
NM_001040108.2(MLH3):c.956T>A (p.Val319Glu)
|
|
|
|
NM_001040108.2(MLH3):c.961A>G (p.Met321Val)
|
rs886050778
|
|
|
NM_001040108.2(MLH3):c.964G>C (p.Glu322Gln)
|
|
|
|
NM_001040108.2(MLH3):c.965A>G (p.Glu322Gly)
|
|
|
|
NM_001040108.2(MLH3):c.971C>G (p.Ala324Gly)
|
|
|
|
NM_001040108.2(MLH3):c.977C>T (p.Thr326Ile)
|
rs1892441207
|
|
|
NM_001040108.2(MLH3):c.97A>G (p.Ser33Gly)
|
rs770219274
|
|
|
NM_001040108.2(MLH3):c.98G>A (p.Ser33Asn)
|
rs2139613635
|
|
|
NM_001041.4(SI):c.2094C>A (p.Phe698Leu)
|
rs193921060
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
|
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
|
|
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
|
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val)
|
rs876660632
|
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
|
NM_001042492.3(NF1):c.1722-13T>G
|
|
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
|
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
|
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
|
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
|
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
|
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
|
|
|
|
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
|
|
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
|
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
|
|
|
|
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
|
|
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
|
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
|
|
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
|
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
|
|
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
|
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
|
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
|
NM_001042492.3(NF1):c.288+6T>A
|
|
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
|
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
|
|
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
|
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
|
|
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
|
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
|
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
|
|
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
|
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
|
|
|
|
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
|
|
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
|
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
|
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
|
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
|
|
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
|
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
|
|
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
|
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
|
|
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
|
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
|
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
|
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
|
NM_001042492.3(NF1):c.480-2746A>G
|
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
|
|
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
|
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
|
|
|
|
NM_001042492.3(NF1):c.5812+489C>G
|
|
|
|
NM_001042492.3(NF1):c.5813-1042A>G
|
|
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
|
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
|
|
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
|
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
|
|
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
|
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
|
|
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
|
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
|
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
|
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
|
|
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
|
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
|
|
|
|
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
|
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
|
NM_001042492.3(NF1):c.888+652G>A
|
|
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
|
NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)
|
rs786202133
|
|
|
NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val)
|
rs1553125016
|
|
|
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys)
|
rs1064794128
|
|
|
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)
|
rs1057517460
|
|
|
NM_001048174.2(MUTYH):c.424G>A (p.Val142Met)
|
rs786203212
|
|
|
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly)
|
rs761101420
|
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
|
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)
|
rs786201772
|
|
|
NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe)
|
rs879254257
|
|
|
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)
|
rs587778538
|
|
|
NM_001063.4(TF):c.1069G>T (p.Glu357Ter)
|
rs193921099
|
|
|
NM_001079668.3(NKX2-1):c.*726G>C
|
|
|
|
NM_001079668.3(NKX2-1):c.463+4A>G
|
rs1881201369
|
|
|
NM_001080.3(ALDH5A1):c.1608G>C (p.Ter536Tyr)
|
rs193920892
|
|
|
NM_001080413.3(NOBOX):c.138C>A (p.Tyr46Ter)
|
rs370043070
|
|
|
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)
|
rs864309497
|
|
|
NM_001102564.3(IFT43):c.21G>T (p.Leu7Phe)
|
rs193921095
|
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
|
NM_001126049.2(KLLN):c.-736G>C
|
rs1554889801
|
|
|
NM_001126049.2(KLLN):c.-828C>T
|
rs786203674
|
|
|
NM_001127173.3(CADM3):c.382G>C (p.Gly128Arg)
|
rs193920866
|
|
|
NM_001127208.3(TET2):c.2131G>C (p.Glu711Gln)
|
rs869025296
|
|
|
NM_001127208.3(TET2):c.2446A>G (p.Asn816Asp)
|
|
|
|
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
|
|
|
|
NM_001127258.3(HHIPL1):c.1471G>C (p.Gly491Arg)
|
rs193920989
|
|
|
NM_001127500.2(MET):c.(?_-1)_1200+?dup
|
|
|
|
NM_001127500.2(MET):c.1528-?_*2262dup4962
|
|
|
|
NM_001127511.3(APC):c.-128G>C
|
rs543098847
|
|
|
NM_001127511.3(APC):c.-142G>A
|
rs951500465
|
|
|
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)
|
rs375349172
|
|
|
NM_001128840.3(CACNA1D):c.3483del (p.Glu1162fs)
|
rs193920795
|
|
|
NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)
|
|
|
|
NM_001128849.1(SMARCA4):c.2010_2012delGGA
|
rs759896283
|
|
|
NM_001130021.3(ATP6V0A1):c.1023+1G>T
|
rs193920983
|
|
|
NM_001131034.4(RNF212):c.314T>C (p.Leu105Ser)
|
rs869025240
|
|
|
NM_001136049.3(LMLN):c.1093G>T (p.Gly365Cys)
|
rs193920933
|
|
|
NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_001142556.2(HMMR):c.1962+7A>G
|
|
|
|
NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_001142565.3(CPSF7):c.523+2dup
|
rs193920985
|
|
|
NM_001143688.3(DIS3L):c.3089G>A (p.Gly1030Glu)
|
rs193920782
|
|
|
NM_001143938.3(ZNF534):c.13C>A (p.Gln5Lys)
|
rs193921143
|
|
|
NM_001144068.2(ZNF772):c.10_11insGGC (p.Ala4delinsGlyPro)
|
rs193920834
|
|
|
NM_001146312.3(MYOCD):c.2678del (p.Lys893fs)
|
rs193920964
|
|
|
NM_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs)
|
rs1370123231
|
|
|
NM_001166108.2(PALLD):c.*1011_*1014dup
|
rs1363457314
|
|
|
NM_001166108.2(PALLD):c.*155C>G
|
rs1560940853
|
|
|
NM_001166108.2(PALLD):c.*161C>T
|
rs1762577012
|
|
|
NM_001166108.2(PALLD):c.*1713T>C
|
rs765552955
|
|
|
NM_001166108.2(PALLD):c.*1757T>G
|
rs886059214
|
|
|
NM_001166108.2(PALLD):c.*1786_*1787insATT
|
rs1553986519
|
|
|
NM_001166108.2(PALLD):c.*182T>A
|
|
|
|
NM_001166108.2(PALLD):c.*194G>C
|
rs893660432
|
|
|
NM_001166108.2(PALLD):c.*203T>A
|
rs1762582426
|
|
|
NM_001166108.2(PALLD):c.*2155_*2156del
|
rs398064261
|
|
|
NM_001166108.2(PALLD):c.*2156dup
|
rs398064261
|
|
|
NM_001166108.2(PALLD):c.*2168C>A
|
rs886059221
|
|
|
NM_001166108.2(PALLD):c.*33C>T
|
rs569054006
|
|
|
NM_001166108.2(PALLD):c.*37G>T
|
|
|
|
NM_001166108.2(PALLD):c.*386T>C
|
rs575876255
|
|
|
NM_001166108.2(PALLD):c.*40G>C
|
rs2126617157
|
|
|
NM_001166108.2(PALLD):c.*41C>T
|
rs2126617192
|
|
|
NM_001166108.2(PALLD):c.*461G>A
|
rs939786378
|
|
|
NM_001166108.2(PALLD):c.*57del
|
|
|
|
NM_001166108.2(PALLD):c.*63A>G
|
|
|
|
NM_001166108.2(PALLD):c.*69A>T
|
rs2126617465
|
|
|
NM_001166108.2(PALLD):c.*71A>G
|
rs2126617547
|
|
|
NM_001166108.2(PALLD):c.*71_*73dup
|
|
|
|
NM_001166108.2(PALLD):c.*73A>T
|
|
|
|
NM_001166108.2(PALLD):c.*829dup
|
rs886059211
|
|
|
NM_001166108.2(PALLD):c.*93G>A
|
|
|
|
NM_001166108.2(PALLD):c.*96A>T
|
|
|
|
NM_001166108.2(PALLD):c.-139G>T
|
rs886059208
|
|
|
NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile)
|
rs776908136
|
|
|
NM_001166108.2(PALLD):c.1616C>T (p.Thr539Ile)
|
rs780510622
|
|
|
NM_001166108.2(PALLD):c.1926C>G (p.Pro642=)
|
rs886059210
|
|
|
NM_001166108.2(PALLD):c.1957C>A (p.Pro653Thr)
|
rs1784873065
|
|
|
NM_001166108.2(PALLD):c.1964+44317_1964+44318inv
|
|
|
|
NM_001166108.2(PALLD):c.1965-12532C>A
|
rs979242789
|
|
|
NM_001166108.2(PALLD):c.1965-12540G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12543A>G
|
rs969187093
|
|
|
NM_001166108.2(PALLD):c.1965-12549T>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12550C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12553G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12570C>T
|
rs587780761
|
|
|
NM_001166108.2(PALLD):c.1965-12573C>G
|
rs1220928329
|
|
|
NM_001166108.2(PALLD):c.1965-12580C>G
|
rs1752110315
|
|
|
NM_001166108.2(PALLD):c.1965-12581GCC[2]
|
rs1291430290
|
|
|
NM_001166108.2(PALLD):c.1965-12582_1965-12577dup
|
|
|
|
NM_001166108.2(PALLD):c.1965-12597C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12597C>T
|
rs1221751077
|
|
|
NM_001166108.2(PALLD):c.1965-12598G>C
|
rs2151120162
|
|
|
NM_001166108.2(PALLD):c.1965-12601A>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12612C>A
|
rs2151119973
|
|
|
NM_001166108.2(PALLD):c.1965-12626_1965-12625inv
|
|
|
|
NM_001166108.2(PALLD):c.1965-12627A>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12637C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12640A>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12648C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12658C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12663C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12678C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12679C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12684C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12688C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12693_1965-12682del
|
|
|
|
NM_001166108.2(PALLD):c.1965-12696C>T
|
rs1752080178
|
|
|
NM_001166108.2(PALLD):c.1965-12698_1965-12690del
|
rs1752077261
|
|
|
NM_001166108.2(PALLD):c.1965-12701GCC[6]
|
rs748729107
|
|
|
NM_001166108.2(PALLD):c.1965-12723C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12723C>T
|
rs748894104
|
|
|
NM_001166108.2(PALLD):c.1965-12730G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12735C>A
|
rs1434151476
|
|
|
NM_001166108.2(PALLD):c.1965-12744T>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12749G>A
|
rs1209607829
|
|
|
NM_001166108.2(PALLD):c.1965-12758_1965-12753del
|
rs864622087
|
|
|
NM_001166108.2(PALLD):c.1965-12758_1965-12753dup
|
rs864622087
|
|
|
NM_001166108.2(PALLD):c.1965-12761_1965-12756del
|
rs730882137
|
|
|
NM_001166108.2(PALLD):c.1965-12762C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12764_1965-12763insTCCCCG
|
rs1201131054
|
|
|
NM_001166108.2(PALLD):c.1965-12766C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12766_1965-12737del
|
rs2151118113
|
|
|
NM_001166108.2(PALLD):c.1965-12769C>A
|
rs1246689760
|
|
|
NM_001166108.2(PALLD):c.1965-12771C>T
|
rs1560839872
|
|
|
NM_001166108.2(PALLD):c.1965-12772T>C
|
rs1161219308
|
|
|
NM_001166108.2(PALLD):c.1965-12772delinsCCGCCCC
|
rs1553965326
|
|
|
NM_001166108.2(PALLD):c.1965-12785CTC[2]
|
rs1343996300
|
|
|
NM_001166108.2(PALLD):c.1965-12790_1965-12764del
|
|
|
|
NM_001166108.2(PALLD):c.1965-12792C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12799G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12802_1965-12797del
|
rs1264657310
|
|
|
NM_001166108.2(PALLD):c.1965-12805G>C
|
rs1553965295
|
|
|
NM_001166108.2(PALLD):c.1965-12811G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12816C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12821_1965-12807del
|
rs2151117365
|
|
|
NM_001166108.2(PALLD):c.1965-12822C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12822_1965-12811del
|
|
|
|
NM_001166108.2(PALLD):c.1965-12823G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12823G>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12828C>T
|
rs1060502974
|
|
|
NM_001166108.2(PALLD):c.1965-12832C>A
|
rs1060502975
|
|
|
NM_001166108.2(PALLD):c.1965-12838C>G
|
rs1219099309
|
|
|
NM_001166108.2(PALLD):c.1965-12841G>A
|
rs987780445
|
|
|
NM_001166108.2(PALLD):c.1965-12844C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12847G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12848C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12859C>T
|
rs1752033511
|
|
|
NM_001166108.2(PALLD):c.1965-12869G>A
|
rs2151116805
|
|
|
NM_001166108.2(PALLD):c.1965-12873C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12879C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12879C>T
|
rs958031030
|
|
|
NM_001166108.2(PALLD):c.1965-12880C>T
|
rs1263751006
|
|
|
NM_001166108.2(PALLD):c.1965-12882T>A
|
rs1752027354
|
|
|
NM_001166108.2(PALLD):c.1965-12883C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12889T>C
|
rs1553965214
|
|
|
NM_001166108.2(PALLD):c.1965-12901A>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12905_1965-12891del
|
rs587780754
|
|
|
NM_001166108.2(PALLD):c.1965-12906C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12909C>G
|
|
|
|
NM_001166108.2(PALLD):c.1965-12916G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12916G>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12918A>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12928G>C
|
rs587780753
|
|
|
NM_001166108.2(PALLD):c.1965-12934G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12938C>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12964C>T
|
rs1752004838
|
|
|
NM_001166108.2(PALLD):c.1965-12982_1965-12839del
|
|
|
|
NM_001166108.2(PALLD):c.1965-12985G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-12985G>C
|
|
|
|
NM_001166108.2(PALLD):c.1965-12987C>T
|
rs1751999027
|
|
|
NM_001166108.2(PALLD):c.1965-12990C>A
|
rs864622627
|
|
|
NM_001166108.2(PALLD):c.1965-12990C>T
|
rs864622627
|
|
|
NM_001166108.2(PALLD):c.1965-12993A>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-12997A>T
|
rs2151115353
|
|
|
NM_001166108.2(PALLD):c.1965-13000G>C
|
rs370602081
|
|
|
NM_001166108.2(PALLD):c.1965-13001del
|
rs1751995307
|
|
|
NM_001166108.2(PALLD):c.1965-13006G>A
|
|
|
|
NM_001166108.2(PALLD):c.1965-13012C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-13017C>T
|
|
|
|
NM_001166108.2(PALLD):c.1965-13026G>A
|
rs1751989868
|
|
|
NM_001166108.2(PALLD):c.1965-13028_1965-13016dup
|
rs1751989521
|
|
|
NM_001166108.2(PALLD):c.1965-7C>G
|
rs1446406744
|
|
|
NM_001166108.2(PALLD):c.1975AAG[1] (p.Lys660del)
|
rs864622531
|
|
|
NM_001166108.2(PALLD):c.1976A>T (p.Lys659Met)
|
rs766621175
|
|
|
NM_001166108.2(PALLD):c.1978_1979delinsGC (p.Lys660Ala)
|
|
|
|
NM_001166108.2(PALLD):c.1981G>C (p.Ala661Pro)
|
rs878854267
|
|
|
NM_001166108.2(PALLD):c.1981G>T (p.Ala661Ser)
|
|
|
|
NM_001166108.2(PALLD):c.1984A>T (p.Ser662Cys)
|
rs1279652646
|
|
|
NM_001166108.2(PALLD):c.1985G>A (p.Ser662Asn)
|
|
|
|
NM_001166108.2(PALLD):c.2032G>A (p.Asp678Asn)
|
rs764564619
|
|
|
NM_001166108.2(PALLD):c.2045A>G (p.Gln682Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2056C>T (p.Arg686Ter)
|
rs1754079127
|
|
|
NM_001166108.2(PALLD):c.2065C>T (p.Arg689Cys)
|
|
|
|
NM_001166108.2(PALLD):c.2066G>C (p.Arg689Pro)
|
|
|
|
NM_001166108.2(PALLD):c.2100+5T>C
|
|
|
|
NM_001166108.2(PALLD):c.2100G>C (p.Pro700=)
|
rs1553968628
|
|
|
NM_001166108.2(PALLD):c.2101-3T>C
|
rs1350140320
|
|
|
NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr)
|
|
|
|
NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys)
|
|
|
|
NM_001166108.2(PALLD):c.2129G>A (p.Arg710His)
|
|
|
|
NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val)
|
rs878854268
|
|
|
NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val)
|
|
|
|
NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val)
|
|
|
|
NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile)
|
rs1389047255
|
|
|
NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile)
|
rs1407253197
|
|
|
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala)
|
|
|
|
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln)
|
rs1754736103
|
|
|
NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His)
|
|
|
|
NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe)
|
|
|
|
NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg)
|
rs1318598425
|
|
|
NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile)
|
|
|
|
NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr)
|
rs1755762387
|
|
|
NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly)
|
|
|
|
NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys)
|
rs1050591975
|
|
|
NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu)
|
rs1050591975
|
|
|
NM_001166108.2(PALLD):c.2324A>C (p.Asp775Ala)
|
|
|
|
NM_001166108.2(PALLD):c.2338G>C (p.Glu780Gln)
|
rs2151263543
|
|
|
NM_001166108.2(PALLD):c.2347T>G (p.Tyr783Asp)
|
rs864622355
|
|
|
NM_001166108.2(PALLD):c.2362G>T (p.Val788Leu)
|
rs587780762
|
|
|
NM_001166108.2(PALLD):c.2392A>G (p.Met798Val)
|
|
|
|
NM_001166108.2(PALLD):c.2399T>C (p.Leu800Pro)
|
rs1298095064
|
|
|
NM_001166108.2(PALLD):c.2414T>C (p.Ile805Thr)
|
rs150764613
|
|
|
NM_001166108.2(PALLD):c.2428C>T (p.Pro810Ser)
|
|
|
|
NM_001166108.2(PALLD):c.2429C>A (p.Pro810Gln)
|
|
|
|
NM_001166108.2(PALLD):c.2438T>G (p.Phe813Cys)
|
rs1461519731
|
|
|
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val)
|
|
|
|
NM_001166108.2(PALLD):c.2477A>C (p.Tyr826Ser)
|
rs372470150
|
|
|
NM_001166108.2(PALLD):c.2491G>A (p.Gly831Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2507C>G (p.Pro836Arg)
|
rs1464837952
|
|
|
NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn)
|
rs863224702
|
|
|
NM_001166108.2(PALLD):c.2516A>G (p.Asp839Gly)
|
|
|
|
NM_001166108.2(PALLD):c.2520C>A (p.His840Gln)
|
rs864622316
|
|
|
NM_001166108.2(PALLD):c.2524A>G (p.Thr842Ala)
|
rs1553973196
|
|
|
NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)
|
rs587780198
|
|
|
NM_001166108.2(PALLD):c.2530C>A (p.Gln844Lys)
|
rs1757056910
|
|
|
NM_001166108.2(PALLD):c.2531A>G (p.Gln844Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2535A>T (p.Arg845Ser)
|
rs1757058174
|
|
|
NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val)
|
|
|
|
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn)
|
rs1380474191
|
|
|
NM_001166108.2(PALLD):c.2552G>T (p.Cys851Phe)
|
|
|
|
NM_001166108.2(PALLD):c.2576C>T (p.Thr859Ile)
|
rs864622388
|
|
|
NM_001166108.2(PALLD):c.2584G>C (p.Asp862His)
|
rs899774397
|
|
|
NM_001166108.2(PALLD):c.2622+3A>G
|
|
|
|
NM_001166108.2(PALLD):c.2669A>G (p.Gln890Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2670A>C (p.Gln890His)
|
|
|
|
NM_001166108.2(PALLD):c.2674G>A (p.Gly892Ser)
|
rs1190472798
|
|
|
NM_001166108.2(PALLD):c.2675G>A (p.Gly892Asp)
|
rs863224703
|
|
|
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp)
|
rs772889018
|
|
|
NM_001166108.2(PALLD):c.2687G>A (p.Arg896Gln)
|
rs373500403
|
|
|
NM_001166108.2(PALLD):c.2696C>T (p.Ser899Leu)
|
|
|
|
NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr)
|
rs2151408223
|
|
|
NM_001166108.2(PALLD):c.2704C>A (p.Pro902Thr)
|
rs114673468
|
|
|
NM_001166108.2(PALLD):c.2708A>G (p.His903Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2718-3A>C
|
|
|
|
NM_001166108.2(PALLD):c.2723G>C (p.Arg908Pro)
|
rs114171764
|
|
|
NM_001166108.2(PALLD):c.2747A>G (p.Asp916Gly)
|
|
|
|
NM_001166108.2(PALLD):c.2754T>A (p.Asn918Lys)
|
rs927644209
|
|
|
NM_001166108.2(PALLD):c.2785C>A (p.His929Asn)
|
|
|
|
NM_001166108.2(PALLD):c.2800C>T (p.Pro934Ser)
|
|
|
|
NM_001166108.2(PALLD):c.2803G>A (p.Gly935Arg)
|
rs2151424394
|
|
|
NM_001166108.2(PALLD):c.2804G>T (p.Gly935Val)
|
rs2151424408
|
|
|
NM_001166108.2(PALLD):c.2808T>A (p.Asp936Glu)
|
|
|
|
NM_001166108.2(PALLD):c.2810T>A (p.Leu937Gln)
|
rs1470434769
|
|
|
NM_001166108.2(PALLD):c.2810T>G (p.Leu937Arg)
|
rs1470434769
|
|
|
NM_001166108.2(PALLD):c.2815G>A (p.Val939Ile)
|
|
|
|
NM_001166108.2(PALLD):c.2818C>A (p.Gln940Lys)
|
|
|
|
NM_001166108.2(PALLD):c.2850+4A>C
|
|
|
|
NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu)
|
rs2126493927
|
|
|
NM_001166108.2(PALLD):c.2873A>C (p.Asp958Ala)
|
rs1761523394
|
|
|
NM_001166108.2(PALLD):c.2890G>C (p.Asp964His)
|
rs1490808015
|
|
|
NM_001166108.2(PALLD):c.2901C>G (p.Pro967=)
|
rs533269596
|
|
|
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu)
|
rs2126495446
|
|
|
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2951A>G (p.His984Arg)
|
|
|
|
NM_001166108.2(PALLD):c.2981G>A (p.Arg994His)
|
rs1010581356
|
|
|
NM_001166108.2(PALLD):c.2983G>C (p.Asp995His)
|
rs751364707
|
|
|
NM_001166108.2(PALLD):c.2987C>T (p.Ala996Val)
|
rs190961769
|
|
|
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala)
|
|
|
|
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr)
|
rs1761543823
|
|
|
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln)
|
|
|
|
NM_001166108.2(PALLD):c.3046C>T (p.Leu1016Phe)
|
rs1761546367
|
|
|
NM_001166108.2(PALLD):c.3050T>C (p.Val1017Ala)
|
rs1560929667
|
|
|
NM_001166108.2(PALLD):c.3052G>A (p.Val1018Ile)
|
|
|
|
NM_001166108.2(PALLD):c.3059-6del
|
rs755470870
|
|
|
NM_001166108.2(PALLD):c.3090T>G (p.Ile1030Met)
|
rs767384375
|
|
|
NM_001166108.2(PALLD):c.3107C>T (p.Thr1036Ile)
|
rs1324020366
|
|
|
NM_001166108.2(PALLD):c.3112G>C (p.Val1038Leu)
|
rs1762161869
|
|
|
NM_001166108.2(PALLD):c.3139G>A (p.Glu1047Lys)
|
rs1202242941
|
|
|
NM_001166108.2(PALLD):c.3144_3145delinsCT (p.Arg1049Cys)
|
rs1762165732
|
|
|
NM_001166108.2(PALLD):c.3158T>C (p.Val1053Ala)
|
rs1582242284
|
|
|
NM_001166108.2(PALLD):c.3167C>T (p.Pro1056Leu)
|
|
|
|
NM_001166108.2(PALLD):c.3177T>A (p.Phe1059Leu)
|
rs778134231
|
|
|
NM_001166108.2(PALLD):c.3185A>C (p.Lys1062Thr)
|
rs1762171174
|
|
|
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val)
|
rs200399043
|
|
|
NM_001166108.2(PALLD):c.3226A>G (p.Met1076Val)
|
rs1582249226
|
|
|
NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser)
|
rs771679229
|
|
|
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu)
|
rs1553984987
|
|
|
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)
|
|
|
|
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met)
|
rs368806050
|
|
|
NM_001166108.2(PALLD):c.3335G>C (p.Cys1112Ser)
|
rs754236496
|
|
|
NM_001166108.2(PALLD):c.3338C>T (p.Thr1113Ile)
|
|
|
|
NM_001166108.2(PALLD):c.3344G>A (p.Arg1115Lys)
|
|
|
|
NM_001166108.2(PALLD):c.3349G>A (p.Asp1117Asn)
|
rs1389221540
|
|
|
NM_001166108.2(PALLD):c.574A>G (p.Ser192Gly)
|
rs1762575507
|
|
|
NM_001166108.2(PALLD):c.622A>G (p.Lys208Glu)
|
|
|
|
NM_001166108.2(PALLD):c.639C>A (p.Ala213=)
|
rs1762581096
|
|
|
NM_001166108.2(PALLD):c.721C>T (p.His241Tyr)
|
rs1490249027
|
|
|
NM_001166108.2(PALLD):c.908+3A>G
|
rs1762604026
|
|
|
NM_001166108.2(PALLD):c.946G>T (p.Asp316Tyr)
|
rs1477916241
|
|
|
NM_001166110.1(PALLD):c.640-?_960+?del
|
|
|
|
NM_001167856.3(SBNO1):c.132+4A>C
|
rs193920847
|
|
|
NM_001168221.2(C2CD6):c.5255T>C (p.Leu1752Ser)
|
rs193920769
|
|
|
NM_001184785.2(PARD3):c.572G>T (p.Cys191Phe)
|
rs193920777
|
|
|
NM_001184785.2(PARD3):c.573C>G (p.Cys191Trp)
|
rs193920776
|
|
|
NM_001184785.2(PARD3):c.684G>A (p.Met228Ile)
|
rs193921017
|
|
|
NM_001190274.2(FBXO11):c.*906G>T
|
rs1572751620
|
|
|
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser)
|
rs1572806551
|
|
|
NM_001191061.2(SLC25A22):c.178G>T (p.Glu60Ter)
|
rs193920962
|
|
|
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
|
rs150803413
|
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
|
NM_001206927.2(DNAH8):c.3333+7A>G
|
rs193921092
|
|
|
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)
|
rs778590557
|
|
|
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)
|
rs770704003
|
|
|
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)
|
rs776363221
|
|
|
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)
|
rs1407334063
|
|
|
NM_001214909.2(ZNF48):c.1624C>T (p.Pro542Ser)
|
rs193921000
|
|
|
NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr)
|
rs193921033
|
|
|
NM_001243133.2(NLRP3):c.-121T>C
|
|
|
|
NM_001243133.2(NLRP3):c.-146T>C
|
|
|
|
NM_001243133.2(NLRP3):c.-748-307A>G
|
|
|
|
NM_001243133.2(NLRP3):c.1486G>A (p.Asp496Asn)
|
|
|
|
NM_001243133.2(NLRP3):c.2151-225C>A
|
|
|
|
NM_001243133.2(NLRP3):c.2338C>A (p.Leu780Ile)
|
|
|
|
NM_001243133.2(NLRP3):c.2353T>C (p.Cys785Arg)
|
|
|
|
NM_001243133.2(NLRP3):c.2835-14C>A
|
|
|
|
NM_001243133.2(NLRP3):c.398-24C>G
|
|
|
|
NM_001243787.2(SMUG1):c.285+5A>T
|
rs193921126
|
|
|
NM_001245.7(SIGLEC6):c.883G>T (p.Ala295Ser)
|
rs370040093
|
|
|
NM_001248.4(ENTPD3):c.812T>A (p.Phe271Tyr)
|
rs193921050
|
|
|
NM_001251845.2(TRPC1):c.970C>T (p.Gln324Ter)
|
rs193920786
|
|
|
NM_001253697.2(ERBIN):c.3878A>T (p.Tyr1293Phe)
|
rs193921009
|
|
|
NM_001256732.3(SSBP2):c.743A>T (p.Tyr248Phe)
|
rs193920757
|
|
|
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)
|
rs864622011
|
|
|
NM_001271.4(CHD2):c.2T>C (p.Met1Thr)
|
rs193920953
|
|
|
NM_001276277.3(PPIP5K2):c.2063-1_2065del
|
rs864622022
|
|
|
NM_001281956.2(CSMD2):c.7808G>T (p.Arg2603Leu)
|
rs193921034
|
|
|
NM_001282663.2(MICAL2):c.3131A>G (p.Asp1044Gly)
|
rs869025227
|
|
|
NM_001286201.2(RERGL):c.412C>A (p.Gln138Lys)
|
rs193920908
|
|
|
NM_001286574.2(ARMC12):c.601G>T (p.Asp201Tyr)
|
rs193921111
|
|
|
NM_001288990.3(TSNAXIP1):c.1756G>A (p.Ala586Thr)
|
rs193921053
|
|
|
NM_001291415.2(KDM6A):c.4190del (p.Thr1397fs)
|
rs193921028
|
|
|
NM_001291415.2(KDM6A):c.453dup (p.Ala152fs)
|
rs193920970
|
|
|
NM_001304359.2(MUC5AC):c.10898C>T (p.Ala3633Val)
|
|
|
|
NM_001304359.2(MUC5AC):c.1386+63G>T
|
|
|
|
NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn)
|
|
|
|
NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly)
|
|
|
|
NM_001304359.2(MUC5AC):c.15862-71G>T
|
|
|
|
NM_001304359.2(MUC5AC):c.2093-112C>T
|
|
|
|
NM_001304359.2(MUC5AC):c.211+43T>C
|
|
|
|
NM_001304359.2(MUC5AC):c.3777-148T>A
|
|
|
|
NM_001304359.2(MUC5AC):c.6811G>T (p.Ala2271Ser)
|
|
|
|
NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)
|
|
|
|
NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser)
|
|
|
|
NM_001318789.2(TLR2):c.301del (p.Ser101fs)
|
|
|
|
NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn)
|
rs193921063
|
|
|
NM_001321645.3(ZNF224):c.1354G>A (p.Gly452Arg)
|
rs193921003
|
|
|
NM_001321818.2(RAD51B):c.1037-71695GT[3]
|
rs1410470158
|
|
|
NM_001324445.2(ADAT1):c.674C>G (p.Pro225Arg)
|
rs193920811
|
|
|
NM_001330288.2(SMARCC2):c.3670A>C (p.Thr1224Pro)
|
rs864622039
|
|
|
NM_001346252.4(USP28):c.571C>T (p.Leu191Phe)
|
rs193920846
|
|
|
NM_001346311.2(ATG13):c.1576-1G>C
|
rs193920809
|
|
|
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)
|
rs864309498
|
|
|
NM_001347886.2(DNAH3):c.6130C>A (p.His2044Asn)
|
rs193921090
|
|
|
NM_001347969.2(ENOX1):c.759_765del (p.Ser254fs)
|
rs193920792
|
|
|
NM_001347995.2(ENTREP1):c.1163-5del
|
rs193921010
|
|
|
NM_001348323.3(TRIP12):c.850C>A (p.Pro284Thr)
|
rs193921087
|
|
|
NM_001352913.2(PPP2R5C):c.880C>G (p.Leu294Val)
|
rs193920829
|
|
|
NM_001353214.3(DYM):c.1779C>G (p.Ile593Met)
|
rs193921113
|
|
|
NM_001366145.2(TRPM3):c.2815G>A (p.Gly939Arg)
|
rs193921019
|
|
|
NM_001366157.1(WDR49):c.2465C>A (p.Ser822Ter)
|
rs193921101
|
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
|
NM_001368894.2(PAX6):c.*247T>A
|
rs1468270124
|
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
|
NM_001368894.2(PAX6):c.-167G>T
|
rs1956928845
|
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
|
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)
|
rs1953969921
|
|
|
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)
|
rs371018133
|
|
|
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)
|
rs1953501315
|
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
|
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)
|
rs373715028
|
|
|
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)
|
rs1954524676
|
|
|
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)
|
rs1592415376
|
|
|
NM_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
|
NM_001372.4(DNAH9):c.3184A>G (p.Ile1062Val)
|
rs193920997
|
|
|
NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)
|
rs1582941569
|
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
|
NM_001375524.1(TRRAP):c.8474A>G (p.Gln2825Arg)
|
rs193920828
|
|
|
NM_001377142.1(PLCB4):c.408C>A (p.Phe136Leu)
|
rs193921109
|
|
|
NM_001377265.1(MAPT):c.100G>T (p.Asp34Tyr)
|
rs193920968
|
|
|
NM_001377265.1(MAPT):c.1059G>C (p.Glu353Asp)
|
rs193920969
|
|
|
NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser)
|
rs193920967
|
|
|
NM_001378789.1(CERS3):c.609+7G>T
|
rs193921020
|
|
|
NM_001378902.1(ROS1):c.3167A>G (p.Asn1056Ser)
|
|
|
|
NM_001378902.1(ROS1):c.3366+23T>C
|
|
|
|
NM_001378902.1(ROS1):c.5062-46A>C
|
|
|
|
NM_001378902.1(ROS1):c.6079G>A (p.Asp2027Asn)
|
|
|
|
NM_001378902.1(ROS1):c.682C>G (p.Gln228Glu)
|
|
|
|
NM_001382430.1(AKT1):c.287+402_287+403delinsGG
|
|
|
|
NM_001382430.1(AKT1):c.567+16T>G
|
rs1892625907
|
|
|
NM_001382430.1(AKT1):c.633+300T>C
|
|
|
|
NM_001382430.1(AKT1):c.653A>C (p.Gln218Pro)
|
rs2140910178
|
|
|
NM_001384657.1(ARHGAP20):c.464T>C (p.Val155Ala)
|
rs193920992
|
|
|
NM_001385562.1(ARPP21):c.1355G>T (p.Gly452Val)
|
rs193920911
|
|
|
NM_001387283.1(SMARCA4):c.4172A>G (p.Lys1391Arg)
|
rs2146775051
|
|
|
NM_001387283.1(SMARCA4):c.4177A>G (p.Thr1393Ala)
|
rs1600445175
|
|
|
NM_001387283.1(SMARCA4):c.4180G>C (p.Gly1394Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4180_4181delinsC (p.Gly1394fs)
|
rs1555787120
|
|
|
NM_001387283.1(SMARCA4):c.4182A>T (p.Gly1394=)
|
|
|
|
NM_001387283.1(SMARCA4):c.4183A>G (p.Lys1395Glu)
|
rs2146775283
|
|
|
NM_001387283.1(SMARCA4):c.4186G>T (p.Asp1396Tyr)
|
rs1555787123
|
|
|
NM_001387283.1(SMARCA4):c.4189_4190del (p.Ile1397fs)
|
|
|
|
NM_001387283.1(SMARCA4):c.4190T>C (p.Ile1397Thr)
|
rs534766933
|
|
|
NM_001387283.1(SMARCA4):c.4192C>T (p.His1398Tyr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4196A>G (p.Asp1399Gly)
|
|
|
|
NM_001387283.1(SMARCA4):c.4201G>A (p.Ala1401Thr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4208G>A (p.Ser1403Asn)
|
|
|
|
NM_001387283.1(SMARCA4):c.4208del (p.Ser1403fs)
|
rs1060502088
|
|
|
NM_001387283.1(SMARCA4):c.4210G>A (p.Val1404Met)
|
|
|
|
NM_001387283.1(SMARCA4):c.4219G>A (p.Gly1407Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4219G>T (p.Gly1407Trp)
|
rs751103947
|
|
|
NM_001387283.1(SMARCA4):c.4223T>C (p.Leu1408Pro)
|
rs2146776508
|
|
|
NM_001387283.1(SMARCA4):c.4228T>A (p.Phe1410Ile)
|
|
|
|
NM_001387283.1(SMARCA4):c.4232A>G (p.Gln1411Arg)
|
|
|
|
NM_001387283.1(SMARCA4):c.4233G>C (p.Gln1411His)
|
rs780721689
|
|
|
NM_001387283.1(SMARCA4):c.4237G>A (p.Gly1413Ser)
|
|
|
|
NM_001387283.1(SMARCA4):c.4240C>G (p.Leu1414Val)
|
rs746165832
|
|
|
NM_001387283.1(SMARCA4):c.4243C>T (p.Gln1415Ter)
|
rs2075456626
|
|
|
NM_001387283.1(SMARCA4):c.4244A>G (p.Gln1415Arg)
|
rs1427210237
|
|
|
NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His)
|
rs1600446366
|
|
|
NM_001387283.1(SMARCA4):c.4246T>C (p.Phe1416Leu)
|
rs1600446408
|
|
|
NM_001387283.1(SMARCA4):c.4250G>A (p.Cys1417Tyr)
|
rs772645133
|
|
|
NM_001387283.1(SMARCA4):c.4253C>T (p.Thr1418Ile)
|
rs1060502100
|
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
|
NM_001387283.1(SMARCA4):c.4256del (p.Arg1419fs)
|
rs2146777667
|
|
|
NM_001387283.1(SMARCA4):c.4258G>A (p.Ala1420Thr)
|
|
|
|
NM_001387283.1(SMARCA4):c.4258G>C (p.Ala1420Pro)
|
|
|
|
NM_001387283.1(SMARCA4):c.4259C>G (p.Ala1420Gly)
|
rs200525458
|
|
|
NM_001387283.1(SMARCA4):c.4259C>T (p.Ala1420Val)
|
rs200525458
|
|
|
NM_001387283.1(SMARCA4):c.4261T>A (p.Ser1421Thr)
|
rs776681345
|
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
|
NM_001387283.1(SMARCA4):c.4265A>C (p.Lys1422Thr)
|
rs1060502061
|
|
|
NM_001387283.1(SMARCA4):c.4265A>G (p.Lys1422Arg)
|
rs1060502061
|
|
|
NM_001387283.1(SMARCA4):c.4266+1G>C
|
rs1060502086
|
|
|
NM_001387283.1(SMARCA4):c.4266+1G>T
|
rs1060502086
|
|
|
NM_001387283.1(SMARCA4):c.4266+1del
|
rs2075460114
|
|
|
NM_001387283.1(SMARCA4):c.4266+2T>A
|
|
|
|
NM_001387283.1(SMARCA4):c.4266+2_4266+3del
|
rs1568523387
|
|
|
NM_001388308.1(KIF12):c.1698-4C>A
|
rs193920925
|
|
|
NM_001391906.1(EIF4G3):c.2710G>T (p.Asp904Tyr)
|
rs193921047
|
|
|
NM_001393499.1(BICRAL):c.1778A>G (p.Lys593Arg)
|
rs193921035
|
|
|
NM_001394062.1(MACF1):c.1508G>C (p.Arg503Thr)
|
rs193920913
|
|
|
NM_001406801.1(MSH6):c.3705-4del
|
|
|
|
NM_001406801.1(MSH6):c.3705-4dup
|
rs1670207159
|
|
|
NM_001406801.1(MSH6):c.3705-5_3705-1dup
|
|
|
|
NM_001412.4(EIF1AX):c.17G>T (p.Gly6Val)
|
|
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
|
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)
|
rs752065194
|
|
|
NM_001496.4(GFRA3):c.1135C>A (p.Pro379Thr)
|
rs193921100
|
|
|
NM_001530.4(HIF1A):c.700G>A (p.Glu234Lys)
|
rs193920781
|
|
|
NM_001684.5(ATP2B4):c.999C>A (p.Asp333Glu)
|
rs193920934
|
|
|
NM_001735.3(C5):c.3286A>G (p.Asn1096Asp)
|
rs193920993
|
|
|
NM_001754.5(RUNX1):c.*83G>A
|
rs2145870845
|
|
|
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)
|
rs1273605678
|
|
|
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
|
|
|
|
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser)
|
rs2056455422
|
|
|
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg)
|
rs868527382
|
|
|
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His)
|
rs1176713877
|
|
|
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg)
|
rs1555884864
|
|
|
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
|
|
|
|
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
|
|
|
|
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
|
|
|
|
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)
|
rs2056446750
|
|
|
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val)
|
rs1601331921
|
|
|
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val)
|
rs2058002974
|
|
|
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
|
|
|
|
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)
|
rs1555899722
|
|
|
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val)
|
rs2146407952
|
|
|
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
|
|
|
|
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
|
|
|
|
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile)
|
rs763464804
|
|
|
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)
|
rs1057519750
|
|
|
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)
|
rs2057884016
|
|
|
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln)
|
rs1229231012
|
|
|
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)
|
rs754894156
|
|
|
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
|
|
|
|
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)
|
rs1399187182
|
|
|
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser)
|
rs2057112093
|
|
|
NM_001754.5(RUNX1):c.82_84del (p.Ser28del)
|
rs775050403
|
|
|
NM_001767.5(CD2):c.974G>C (p.Gly325Ala)
|
rs864622018
|
|
|
NM_001819.3(CHGB):c.1308A>C (p.Glu436Asp)
|
rs193921088
|
|
|
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)
|
rs762408881
|
|
|
NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)
|
rs2150032599
|
|
|
NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)
|
rs2150288180
|
|
|
NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)
|
rs1755329623
|
|
|
NM_001903.5(CTNNA1):c.1645del (p.Ala549fs)
|
rs2150288925
|
|
|
NM_001903.5(CTNNA1):c.1944del (p.Phe648fs)
|
rs2150324882
|
|
|
NM_001903.5(CTNNA1):c.2047A>G (p.Lys683Glu)
|
rs2150334086
|
|
|
NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)
|
rs2150358511
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
|
NM_001910.4(CTSE):c.319G>A (p.Val107Met)
|
rs193920960
|
|
|
NM_001931.5(DLAT):c.1339T>C (p.Tyr447His)
|
rs193921135
|
|
|
NM_001964.3(EGR1):c.-205G>A
|
|
|
|
NM_001982.4(ERBB3):c.2802G>C (p.Gln934His)
|
rs193920754
|
|
|
NM_001999.4(FBN2):c.6177A>C (p.Glu2059Asp)
|
rs193920763
|
|
|
NM_002019.4(FLT1):c.1106+219G>T
|
|
|
|
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs)
|
rs796052115
|
|
|
NM_002019.4(FLT1):c.2594-52G>A
|
|
|
|
NM_002019.4(FLT1):c.2708-190C>T
|
|
|
|
NM_002019.4(FLT1):c.2708-195G>T
|
|
|
|
NM_002019.4(FLT1):c.3174+225T>G
|
|
|
|
NM_002019.4(FLT1):c.3721-78C>A
|
|
|
|
NM_002019.4(FLT1):c.513+216C>T
|
|
|
|
NM_002019.4(FLT1):c.64+22G>T
|
|
|
|
NM_002029.4(FPR1):c.772C>T (p.Gln258Ter)
|
rs193920896
|
|
|
NM_002126.5(HLF):c.436dup (p.Ser146fs)
|
rs193920793
|
|
|
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
|
|
|
|
NM_002236.5(KCNF1):c.248C>T (p.Pro83Leu)
|
rs193920977
|
|
|
NM_002249.6(KCNN3):c.1448+1G>T
|
rs193920929
|
|
|
NM_002253.4(KDR):c.2380G>A (p.Gly794Arg)
|
rs795902896
|
|
|
NM_002253.4(KDR):c.2509+20T>A
|
rs795902897
|
|
|
NM_002253.4(KDR):c.2510-27del
|
rs795902898
|
|
|
NM_002253.4(KDR):c.2544G>T (p.Val848=)
|
rs795902899
|
|
|
NM_002253.4(KDR):c.2598A>C (p.Ala866=)
|
rs795939486
|
|
|
NM_002253.4(KDR):c.2615-23C>T
|
rs778886056
|
|
|
NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)
|
rs794729676
|
|
|
NM_002253.4(KDR):c.2676T>A (p.Ile892=)
|
rs794729677
|
|
|
NM_002253.4(KDR):c.2705T>A (p.Leu902Gln)
|
rs794729678
|
|
|
NM_002253.4(KDR):c.2721G>C (p.Lys907Asn)
|
rs200773668
|
|
|
NM_002253.4(KDR):c.3441C>G (p.Pro1147=)
|
rs795939487
|
|
|
NM_002253.4(KDR):c.3465G>A (p.Glu1155=)
|
rs795939488
|
|
|
NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe)
|
rs761176323
|
|
|
NM_002336.3(LRP6):c.3241C>G (p.Pro1081Ala)
|
rs193920743
|
|
|
NM_002354.2(EPCAM):c.(?_-1)_858+?dup
|
|
|
|
NM_002354.2(EPCAM):c.859-?_*415+?dup
|
|
|
|
NM_002354.3(EPCAM):c.*147dup
|
rs886056132
|
|
|
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)
|
rs2103737908
|
|
|
NM_002354.3(EPCAM):c.123T>A (p.Asn41Lys)
|
rs750032094
|
|
|
NM_002354.3(EPCAM):c.125A>G (p.Asn42Ser)
|
rs864622433
|
|
|
NM_002354.3(EPCAM):c.151G>T (p.Val51Phe)
|
rs781673286
|
|
|
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
|
|
|
|
NM_002354.3(EPCAM):c.28G>A (p.Gly10Arg)
|
rs863224709
|
|
|
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly)
|
rs587780557
|
|
|
NM_002354.3(EPCAM):c.299A>T (p.Asp100Val)
|
rs587780557
|
|
|
NM_002354.3(EPCAM):c.320C>T (p.Ala107Val)
|
rs863224710
|
|
|
NM_002354.3(EPCAM):c.344T>A (p.Met115Lys)
|
rs1126497
|
|
|
NM_002354.3(EPCAM):c.34C>A (p.Leu12Met)
|
rs746990000
|
|
|
NM_002354.3(EPCAM):c.380C>T (p.Thr127Ile)
|
rs863224711
|
|
|
NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu)
|
rs863224389
|
|
|
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)
|
|
|
|
NM_002354.3(EPCAM):c.436A>G (p.Ile146Val)
|
rs751352456
|
|
|
NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1])
|
rs878854490
|
|
|
NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del)
|
rs864622092
|
|
|
NM_002354.3(EPCAM):c.496C>T (p.Leu166Phe)
|
rs587780768
|
|
|
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)
|
rs116429842
|
|
|
NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)
|
|
|
|
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del)
|
rs863224840
|
|
|
NM_002354.3(EPCAM):c.601C>G (p.Gln201Glu)
|
rs878854493
|
|
|
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)
|
rs2103738227
|
|
|
NM_002354.3(EPCAM):c.690A>C (p.Lys230Asn)
|
rs864622463
|
|
|
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala)
|
rs755757555
|
|
|
NM_002354.3(EPCAM):c.74A>T (p.Glu25Val)
|
rs878854494
|
|
|
NM_002354.3(EPCAM):c.76+5G>A
|
rs863224712
|
|
|
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr)
|
rs587780771
|
|
|
NM_002354.3(EPCAM):c.835G>C (p.Val279Leu)
|
rs878854495
|
|
|
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)
|
|
|
|
NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del)
|
rs1424757619
|
|
|
NM_002354.3(EPCAM):c.866C>T (p.Ser289Phe)
|
rs864622286
|
|
|
NM_002354.3(EPCAM):c.878G>A (p.Arg293Lys)
|
rs786204192
|
|
|
NM_002354.3(EPCAM):c.903+5A>G
|
rs199784016
|
|
|
NM_002439.5(MSH3):c.1000T>C (p.Tyr334His)
|
|
|
|
NM_002439.5(MSH3):c.1028-1A>T
|
rs1008382885
|
|
|
NM_002439.5(MSH3):c.1046A>G (p.Lys349Arg)
|
rs545826957
|
|
|
NM_002439.5(MSH3):c.1055A>T (p.Asp352Val)
|
|
|
|
NM_002439.5(MSH3):c.1057G>A (p.Ala353Thr)
|
rs1749806720
|
|
|
NM_002439.5(MSH3):c.1088C>A (p.Thr363Asn)
|
rs562793293
|
|
|
NM_002439.5(MSH3):c.110C>A (p.Thr37Asn)
|
rs759573423
|
|
|
NM_002439.5(MSH3):c.1129_1131delinsCAA (p.Asn377Gln)
|
|
|
|
NM_002439.5(MSH3):c.112TCC[2] (p.Ser40del)
|
rs1049679865
|
|
|
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr)
|
rs1580538013
|
|
|
NM_002439.5(MSH3):c.115T>G (p.Ser39Ala)
|
rs1580538013
|
|
|
NM_002439.5(MSH3):c.1202T>C (p.Val401Ala)
|
rs1749902990
|
|
|
NM_002439.5(MSH3):c.122C>T (p.Thr41Ile)
|
rs763928973
|
|
|
NM_002439.5(MSH3):c.1267C>T (p.Pro423Ser)
|
rs1580556519
|
|
|
NM_002439.5(MSH3):c.1300G>C (p.Glu434Gln)
|
|
|
|
NM_002439.5(MSH3):c.1316T>C (p.Leu439Pro)
|
rs140465019
|
|
|
NM_002439.5(MSH3):c.138G>C (p.Gln46His)
|
rs1749197468
|
|
|
NM_002439.5(MSH3):c.1398C>G (p.Ser466Arg)
|
|
|
|
NM_002439.5(MSH3):c.1418C>G (p.Thr473Arg)
|
|
|
|
NM_002439.5(MSH3):c.1430C>G (p.Ala477Gly)
|
rs534548594
|
|
|
NM_002439.5(MSH3):c.1496_1510del (p.Val499_Leu503del)
|
rs1743353148
|
|
|
NM_002439.5(MSH3):c.1514C>T (p.Ala505Val)
|
rs759956134
|
|
|
NM_002439.5(MSH3):c.152C>G (p.Ala51Gly)
|
|
|
|
NM_002439.5(MSH3):c.1549A>G (p.Lys517Glu)
|
|
|
|
NM_002439.5(MSH3):c.1628G>C (p.Arg543Thr)
|
|
|
|
NM_002439.5(MSH3):c.1680G>T (p.Leu560Phe)
|
rs542448674
|
|
|
NM_002439.5(MSH3):c.1700C>T (p.Thr567Ile)
|
rs945510244
|
|
|
NM_002439.5(MSH3):c.1718G>A (p.Arg573Lys)
|
rs747248456
|
|
|
NM_002439.5(MSH3):c.1732A>G (p.Lys578Glu)
|
rs1743681215
|
|
|
NM_002439.5(MSH3):c.1793C>G (p.Ser598Trp)
|
rs757559761
|
|
|
NM_002439.5(MSH3):c.181G>A (p.Ala61Thr)
|
|
|
|
NM_002439.5(MSH3):c.1841A>G (p.His614Arg)
|
rs1580027596
|
|
|
NM_002439.5(MSH3):c.1867_1892delinsGT (p.Arg623_Lys631delinsVal)
|
|
|
|
NM_002439.5(MSH3):c.1910A>G (p.Glu637Gly)
|
rs376488647
|
|
|
NM_002439.5(MSH3):c.1917C>G (p.Phe639Leu)
|
rs773818431
|
|
|
NM_002439.5(MSH3):c.1934T>C (p.Leu645Ser)
|
rs1271669410
|
|
|
NM_002439.5(MSH3):c.1939C>A (p.His647Asn)
|
rs1418780560
|
|
|
NM_002439.5(MSH3):c.1963A>G (p.Ile655Val)
|
|
|
|
NM_002439.5(MSH3):c.196C>A (p.Pro66Thr)
|
|
|
|
NM_002439.5(MSH3):c.196C>G (p.Pro66Ala)
|
rs767295239
|
|
|
NM_002439.5(MSH3):c.196C>T (p.Pro66Ser)
|
|
|
|
NM_002439.5(MSH3):c.1978A>T (p.Asn660Tyr)
|
|
|
|
NM_002439.5(MSH3):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_002439.5(MSH3):c.2002C>G (p.Leu668Val)
|
rs1744152400
|
|
|
NM_002439.5(MSH3):c.200C>G (p.Pro67Arg)
|
rs1460806829
|
|
|
NM_002439.5(MSH3):c.202G>A (p.Ala68Thr)
|
|
|
|
NM_002439.5(MSH3):c.2032CTC[1] (p.Leu679del)
|
rs1441694543
|
|
|
NM_002439.5(MSH3):c.2084+5G>C
|
rs1580034045
|
|
|
NM_002439.5(MSH3):c.214C>T (p.Pro72Ser)
|
|
|
|
NM_002439.5(MSH3):c.2225C>T (p.Ala742Val)
|
|
|
|
NM_002439.5(MSH3):c.222G>C (p.Gln74His)
|
rs1279149249
|
|
|
NM_002439.5(MSH3):c.2253+3A>G
|
|
|
|
NM_002439.5(MSH3):c.2253+3_2253+7del
|
rs1488467945
|
|
|
NM_002439.5(MSH3):c.2257A>G (p.Met753Val)
|
rs1744285293
|
|
|
NM_002439.5(MSH3):c.2263G>C (p.Glu755Gln)
|
rs1237452188
|
|
|
NM_002439.5(MSH3):c.2279C>G (p.Ala760Gly)
|
rs1580042050
|
|
|
NM_002439.5(MSH3):c.227CGC[3] (p.Pro77dup)
|
rs1490449810
|
|
|
NM_002439.5(MSH3):c.2290A>G (p.Ile764Val)
|
rs146657445
|
|
|
NM_002439.5(MSH3):c.2297C>T (p.Thr766Ile)
|
|
|
|
NM_002439.5(MSH3):c.230C>T (p.Pro77Leu)
|
rs1258205404
|
|
|
NM_002439.5(MSH3):c.2310G>C (p.Lys770Asn)
|
|
|
|
NM_002439.5(MSH3):c.2323A>G (p.Lys775Glu)
|
|
|
|
NM_002439.5(MSH3):c.2345C>T (p.Ser782Phe)
|
rs1744350926
|
|
|
NM_002439.5(MSH3):c.237+6T>G
|
rs1580539072
|
|
|
NM_002439.5(MSH3):c.2393A>C (p.Gln798Pro)
|
|
|
|
NM_002439.5(MSH3):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_002439.5(MSH3):c.2436-2A>T
|
|
|
|
NM_002439.5(MSH3):c.2446G>A (p.Glu816Lys)
|
rs1230908557
|
|
|
NM_002439.5(MSH3):c.2467A>G (p.Lys823Glu)
|
rs2112020231
|
|
|
NM_002439.5(MSH3):c.2533G>C (p.Asp845His)
|
rs1335381574
|
|
|
NM_002439.5(MSH3):c.2548A>G (p.Thr850Ala)
|
rs1744629388
|
|
|
NM_002439.5(MSH3):c.2560G>A (p.Glu854Lys)
|
|
|
|
NM_002439.5(MSH3):c.2577A>G (p.Ile859Met)
|
rs1744630266
|
|
|
NM_002439.5(MSH3):c.2605G>A (p.Val869Met)
|
|
|
|
NM_002439.5(MSH3):c.2630A>C (p.Tyr877Ser)
|
|
|
|
NM_002439.5(MSH3):c.2632G>A (p.Val878Ile)
|
|
|
|
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg)
|
rs777054839
|
|
|
NM_002439.5(MSH3):c.2716A>G (p.Ile906Val)
|
rs767359174
|
|
|
NM_002439.5(MSH3):c.2743A>G (p.Met915Val)
|
rs200945869
|
|
|
NM_002439.5(MSH3):c.2869A>T (p.Thr957Ser)
|
rs1580091502
|
|
|
NM_002439.5(MSH3):c.2875A>G (p.Thr959Ala)
|
|
|
|
NM_002439.5(MSH3):c.2883A>T (p.Glu961Asp)
|
rs1745877938
|
|
|
NM_002439.5(MSH3):c.2913G>T (p.Leu971Phe)
|
|
|
|
NM_002439.5(MSH3):c.2917A>T (p.Ile973Phe)
|
|
|
|
NM_002439.5(MSH3):c.2942C>A (p.Thr981Lys)
|
|
|
|
NM_002439.5(MSH3):c.2969C>T (p.Ala990Val)
|
rs756720431
|
|
|
NM_002439.5(MSH3):c.2977A>G (p.Thr993Ala)
|
rs755228303
|
|
|
NM_002439.5(MSH3):c.2992A>G (p.Ile998Val)
|
rs548030451
|
|
|
NM_002439.5(MSH3):c.2995A>G (p.Arg999Gly)
|
rs2112106692
|
|
|
NM_002439.5(MSH3):c.3049C>A (p.Leu1017Ile)
|
|
|
|
NM_002439.5(MSH3):c.307A>C (p.Lys103Gln)
|
|
|
|
NM_002439.5(MSH3):c.3105T>A (p.Ser1035Arg)
|
rs1580098696
|
|
|
NM_002439.5(MSH3):c.3175A>G (p.Ile1059Val)
|
rs1427170285
|
|
|
NM_002439.5(MSH3):c.3197G>C (p.Arg1066Thr)
|
|
|
|
NM_002439.5(MSH3):c.3198G>T (p.Arg1066Ser)
|
rs776035988
|
|
|
NM_002439.5(MSH3):c.3205G>A (p.Gly1069Arg)
|
rs776080458
|
|
|
NM_002439.5(MSH3):c.3307A>G (p.Arg1103Gly)
|
rs1746297485
|
|
|
NM_002439.5(MSH3):c.3315G>C (p.Lys1105Asn)
|
|
|
|
NM_002439.5(MSH3):c.3331T>C (p.Trp1111Arg)
|
rs1459678591
|
|
|
NM_002439.5(MSH3):c.3366G>T (p.Trp1122Cys)
|
|
|
|
NM_002439.5(MSH3):c.379A>G (p.Thr127Ala)
|
rs1343040610
|
|
|
NM_002439.5(MSH3):c.427G>A (p.Asp143Asn)
|
rs138381683
|
|
|
NM_002439.5(MSH3):c.488T>G (p.Leu163Arg)
|
|
|
|
NM_002439.5(MSH3):c.4T>A (p.Ser2Thr)
|
|
|
|
NM_002439.5(MSH3):c.534G>T (p.Lys178Asn)
|
rs569679162
|
|
|
NM_002439.5(MSH3):c.53C>T (p.Pro18Leu)
|
|
|
|
NM_002439.5(MSH3):c.55G>C (p.Ala19Pro)
|
|
|
|
NM_002439.5(MSH3):c.59G>A (p.Arg20Lys)
|
rs1580537787
|
|
|
NM_002439.5(MSH3):c.606G>C (p.Gln202His)
|
|
|
|
NM_002439.5(MSH3):c.608T>C (p.Phe203Ser)
|
rs752398971
|
|
|
NM_002439.5(MSH3):c.610G>C (p.Gly204Arg)
|
rs2112812169
|
|
|
NM_002439.5(MSH3):c.719A>G (p.Lys240Arg)
|
|
|
|
NM_002439.5(MSH3):c.729C>A (p.His243Gln)
|
|
|
|
NM_002439.5(MSH3):c.733G>A (p.Asp245Asn)
|
rs558080525
|
|
|
NM_002439.5(MSH3):c.7C>T (p.Arg3Cys)
|
rs774455792
|
|
|
NM_002439.5(MSH3):c.808C>T (p.Leu270Phe)
|
rs376434836
|
|
|
NM_002439.5(MSH3):c.896C>T (p.Ala299Val)
|
rs1580551915
|
|
|
NM_002439.5(MSH3):c.905A>G (p.Tyr302Cys)
|
rs1675425192
|
|
|
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly)
|
rs772142059
|
|
|
NM_002472.3(MYH8):c.2339G>T (p.Arg780Ile)
|
rs193920854
|
|
|
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)
|
rs1336243918
|
|
|
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)
|
rs876658535
|
|
|
NM_002485.5(NBN):c.1946T>C (p.Met649Thr)
|
rs1554556582
|
|
|
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)
|
rs193921030
|
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002520.7(NPM1):c.*101T>C
|
rs530255077
|
|
|
NM_002520.7(NPM1):c.*1del
|
rs2113301429
|
|
|
NM_002520.7(NPM1):c.*29A>T
|
rs200638434
|
|
|
NM_002520.7(NPM1):c.*2A>G
|
rs2113301446
|
|
|
NM_002520.7(NPM1):c.*33T>C
|
rs2113301714
|
|
|
NM_002520.7(NPM1):c.*73T>C
|
rs2113302170
|
|
|
NM_002520.7(NPM1):c.*75C>T
|
rs2113302182
|
|
|
NM_002520.7(NPM1):c.*76T>C
|
rs2113302197
|
|
|
NM_002520.7(NPM1):c.*80T>A
|
rs2113302213
|
|
|
NM_002520.7(NPM1):c.*81A>T
|
rs1271696160
|
|
|
NM_002520.7(NPM1):c.*98C>T
|
rs2113302335
|
|
|
NM_002524.5(NRAS):c.164T>C (p.Ile55Thr)
|
|
|
|
NM_002524.5(NRAS):c.180A>G (p.Gly60=)
|
|
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
|
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)
|
rs1035934237
|
|
|
NM_002555.6(SLC22A18):c.865-1046C>T
|
|
|
|
NM_002612.4(PDK4):c.59T>G (p.Val20Gly)
|
rs864622014
|
|
|
NM_002691.4(POLD1):c.-1-12C>T
|
rs778338383
|
|
|
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile)
|
rs868850526
|
|
|
NM_002691.4(POLD1):c.1243-11CTC[2]
|
rs760329559
|
|
|
NM_002691.4(POLD1):c.1687-2A>G
|
rs1568628299
|
|
|
NM_002691.4(POLD1):c.1892+9C>G
|
rs1060504366
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.2874G>A (p.Leu958=)
|
rs1568639764
|
|
|
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp)
|
rs1057519694
|
|
|
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu)
|
rs878854552
|
|
|
NM_002715.4(PPP2CA):c.922_924del (p.Phe308del)
|
rs864622012
|
|
|
NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)
|
rs193921103
|
|
|
NM_002802.3(PSMC1):c.279+8G>A
|
rs193920988
|
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
|
NM_002872.5(RAC2):c.225+1G>A
|
rs193920791
|
|
|
NM_002878.4(RAD51D):c.33C>T (p.Gly11=)
|
rs760444811
|
|
|
NM_002878.4(RAD51D):c.576+6C>G
|
rs2142428719
|
|
|
NM_002878.4(RAD51D):c.768C>G (p.Asp256Glu)
|
rs569428131
|
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
|
NM_002940.3(ABCE1):c.708T>G (p.Asp236Glu)
|
rs193920849
|
|
|
NM_002960.2(S100A3):c.25G>T (p.Val9Leu)
|
rs193921084
|
|
|
NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn)
|
rs193921093
|
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
|
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)
|
rs962717797
|
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
|
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
|
NM_003000.3(SDHB):c.201A>G (p.Lys67=)
|
rs1436421650
|
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
|
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
|
NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)
|
|
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
|
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
|
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)
|
rs2078004347
|
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
|
NM_003000.3(SDHB):c.424G>A (p.Asp142Asn)
|
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
|
NM_003000.3(SDHB):c.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
|
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)
|
rs1553177442
|
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
|
NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
|
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)
|
rs864309496
|
|
|
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
|
NM_003072.5(SMARCA4):c.*6_*32dup (p.Ter1648=)
|
rs1555797492
|
|
|
NM_003072.5(SMARCA4):c.-32+34C>T
|
rs1351249230
|
|
|
NM_003072.5(SMARCA4):c.1000G>T (p.Gly334Trp)
|
rs1364450672
|
|
|
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys)
|
rs374054124
|
|
|
NM_003072.5(SMARCA4):c.1007C>A (p.Pro336Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1014G>C (p.Gln338His)
|
rs2086195287
|
|
|
NM_003072.5(SMARCA4):c.1016C>T (p.Pro339Leu)
|
rs554354092
|
|
|
NM_003072.5(SMARCA4):c.1018G>T (p.Ala340Ser)
|
rs371214327
|
|
|
NM_003072.5(SMARCA4):c.101C>T (p.Pro34Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1022C>T (p.Pro341Leu)
|
rs2086196449
|
|
|
NM_003072.5(SMARCA4):c.1027G>C (p.Val343Leu)
|
rs1599970530
|
|
|
NM_003072.5(SMARCA4):c.1027G>T (p.Val343Leu)
|
rs1599970530
|
|
|
NM_003072.5(SMARCA4):c.1028T>C (p.Val343Ala)
|
rs1568427296
|
|
|
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr)
|
rs771509538
|
|
|
NM_003072.5(SMARCA4):c.1031C>G (p.Pro344Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1033C>A (p.Leu345Met)
|
rs888226264
|
|
|
NM_003072.5(SMARCA4):c.1034T>C (p.Leu345Pro)
|
rs1599970814
|
|
|
NM_003072.5(SMARCA4):c.1034T>G (p.Leu345Arg)
|
rs1599970814
|
|
|
NM_003072.5(SMARCA4):c.1035_1036delinsAA (p.His346Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1036C>T (p.His346Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.1041G>T (p.Gln347His)
|
rs773687860
|
|
|
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu)
|
rs1060502092
|
|
|
NM_003072.5(SMARCA4):c.1048A>G (p.Ser350Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1052G>T (p.Arg351Leu)
|
rs1018881303
|
|
|
NM_003072.5(SMARCA4):c.1054A>T (p.Ile352Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1055T>A (p.Ile352Asn)
|
rs1568427448
|
|
|
NM_003072.5(SMARCA4):c.1055T>G (p.Ile352Ser)
|
rs1568427448
|
|
|
NM_003072.5(SMARCA4):c.1058C>T (p.Thr353Ile)
|
rs2145820918
|
|
|
NM_003072.5(SMARCA4):c.1060C>G (p.Pro354Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1060C>T (p.Pro354Ser)
|
rs864622680
|
|
|
NM_003072.5(SMARCA4):c.1061C>A (p.Pro354His)
|
rs1599971262
|
|
|
NM_003072.5(SMARCA4):c.1061C>T (p.Pro354Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1064T>A (p.Ile355Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1065C>G (p.Ile355Met)
|
rs1342901943
|
|
|
NM_003072.5(SMARCA4):c.1067A>G (p.Gln356Arg)
|
rs2086201417
|
|
|
NM_003072.5(SMARCA4):c.106C>T (p.Pro36Ser)
|
rs1555750794
|
|
|
NM_003072.5(SMARCA4):c.1079G>A (p.Gly360Asp)
|
rs1555755289
|
|
|
NM_003072.5(SMARCA4):c.1079G>T (p.Gly360Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1081C>A (p.Leu361Ile)
|
rs1222895303
|
|
|
NM_003072.5(SMARCA4):c.1081C>T (p.Leu361Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1084G>C (p.Asp362His)
|
|
|
|
NM_003072.5(SMARCA4):c.1086C>A (p.Asp362Glu)
|
rs1599971944
|
|
|
NM_003072.5(SMARCA4):c.1088C>T (p.Pro363Leu)
|
rs1568427632
|
|
|
NM_003072.5(SMARCA4):c.1093G>A (p.Glu365Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1093G>C (p.Glu365Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1094A>G (p.Glu365Gly)
|
rs2145822167
|
|
|
NM_003072.5(SMARCA4):c.1095G>C (p.Glu365Asp)
|
rs2145822205
|
|
|
NM_003072.5(SMARCA4):c.1096A>T (p.Ile366Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1097T>C (p.Ile366Thr)
|
rs2145822279
|
|
|
NM_003072.5(SMARCA4):c.1099C>G (p.Leu367Val)
|
rs372379166
|
|
|
NM_003072.5(SMARCA4):c.109G>A (p.Gly37Ser)
|
rs2085812988
|
|
|
NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala)
|
rs2085801503
|
|
|
NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser)
|
rs2085801503
|
|
|
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys)
|
rs1436490540
|
|
|
NM_003072.5(SMARCA4):c.1109G>A (p.Arg370His)
|
rs878854197
|
|
|
NM_003072.5(SMARCA4):c.110G>A (p.Gly37Asp)
|
rs2085813185
|
|
|
NM_003072.5(SMARCA4):c.1111G>A (p.Glu371Lys)
|
rs1599972601
|
|
|
NM_003072.5(SMARCA4):c.1114T>A (p.Tyr372Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1117A>G (p.Arg373Gly)
|
rs1555755346
|
|
|
NM_003072.5(SMARCA4):c.1118+1G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1118+3G>T
|
rs1568427837
|
|
|
NM_003072.5(SMARCA4):c.1118+4A>T
|
rs2086207488
|
|
|
NM_003072.5(SMARCA4):c.1118+5G>A
|
rs1351206812
|
|
|
NM_003072.5(SMARCA4):c.1118+6G>A
|
rs1471938505
|
|
|
NM_003072.5(SMARCA4):c.1119-5C>G
|
rs1555756257
|
|
|
NM_003072.5(SMARCA4):c.1120C>G (p.Leu374Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1124A>G (p.Gln375Arg)
|
rs2145846611
|
|
|
NM_003072.5(SMARCA4):c.1127C>T (p.Ala376Val)
|
rs2086347503
|
|
|
NM_003072.5(SMARCA4):c.1129C>T (p.Arg377Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)
|
rs1599929325
|
|
|
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His)
|
rs1555756272
|
|
|
NM_003072.5(SMARCA4):c.1130G>T (p.Arg377Leu)
|
rs1555756272
|
|
|
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val)
|
rs540717794
|
|
|
NM_003072.5(SMARCA4):c.1133T>C (p.Ile378Thr)
|
rs1599995171
|
|
|
NM_003072.5(SMARCA4):c.1135G>C (p.Ala379Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.1135G>T (p.Ala379Ser)
|
rs769660597
|
|
|
NM_003072.5(SMARCA4):c.1138C>T (p.His380Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.113C>T (p.Ser38Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1142G>A (p.Arg381Gln)
|
rs749059769
|
|
|
NM_003072.5(SMARCA4):c.115G>T (p.Ala39Ser)
|
rs764312409
|
|
|
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro)
|
rs1555756337
|
|
|
NM_003072.5(SMARCA4):c.1168G>A (p.Gly390Arg)
|
rs1568430508
|
|
|
NM_003072.5(SMARCA4):c.116C>T (p.Ala39Val)
|
rs2145723731
|
|
|
NM_003072.5(SMARCA4):c.1175T>A (p.Leu392Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1180G>A (p.Gly394Arg)
|
rs1046318786
|
|
|
NM_003072.5(SMARCA4):c.1180G>C (p.Gly394Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1184A>G (p.Asp395Gly)
|
rs2086352477
|
|
|
NM_003072.5(SMARCA4):c.1187T>G (p.Leu396Trp)
|
rs2145848630
|
|
|
NM_003072.5(SMARCA4):c.1189C>G (p.Arg397Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.118C>T (p.His40Tyr)
|
rs2145723792
|
|
|
NM_003072.5(SMARCA4):c.1195A>G (p.Lys399Glu)
|
rs2145848866
|
|
|
NM_003072.5(SMARCA4):c.1196A>G (p.Lys399Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1196A>T (p.Lys399Ile)
|
rs1364132635
|
|
|
NM_003072.5(SMARCA4):c.1198G>T (p.Ala400Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.119A>G (p.His40Arg)
|
rs1178566757
|
|
|
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)
|
rs1599996370
|
|
|
NM_003072.5(SMARCA4):c.1207G>A (p.Glu403Lys)
|
rs1555756388
|
|
|
NM_003072.5(SMARCA4):c.1208A>G (p.Glu403Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln)
|
rs375884151
|
|
|
NM_003072.5(SMARCA4):c.1210C>T (p.Leu404Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1214A>G (p.Lys405Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1217C>T (p.Ala406Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1219C>T (p.Leu407Phe)
|
rs1060502078
|
|
|
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
|
NM_003072.5(SMARCA4):c.1222A>G (p.Arg408Gly)
|
rs2086355525
|
|
|
NM_003072.5(SMARCA4):c.1223G>A (p.Arg408Lys)
|
rs2145849759
|
|
|
NM_003072.5(SMARCA4):c.1225C>A (p.Leu409Met)
|
rs2145849845
|
|
|
NM_003072.5(SMARCA4):c.1234T>C (p.Phe412Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1236C>G (p.Phe412Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1245+3G>A
|
rs2145850436
|
|
|
NM_003072.5(SMARCA4):c.1245+4G>A
|
rs2145850485
|
|
|
NM_003072.5(SMARCA4):c.1245+5G>C
|
rs2145850551
|
|
|
NM_003072.5(SMARCA4):c.1245+6delinsAATCTGGAAA
|
|
|
|
NM_003072.5(SMARCA4):c.1245G>A (p.Gln415=)
|
rs2145850376
|
|
|
NM_003072.5(SMARCA4):c.1245G>C (p.Gln415His)
|
|
|
|
NM_003072.5(SMARCA4):c.1246-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1246-6C>G
|
|
|
|
NM_003072.5(SMARCA4):c.1247T>G (p.Leu416Arg)
|
rs2086525774
|
|
|
NM_003072.5(SMARCA4):c.1249C>T (p.Arg417Cys)
|
rs2086525936
|
|
|
NM_003072.5(SMARCA4):c.124A>C (p.Met42Leu)
|
rs1060502081
|
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
|
NM_003072.5(SMARCA4):c.124A>T (p.Met42Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1250G>A (p.Arg417His)
|
rs2086526099
|
|
|
NM_003072.5(SMARCA4):c.1250G>T (p.Arg417Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1253A>G (p.Gln418Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1255G>C (p.Glu419Gln)
|
rs1600022414
|
|
|
NM_003072.5(SMARCA4):c.1257G>T (p.Glu419Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.125T>C (p.Met42Thr)
|
rs1046243225
|
|
|
NM_003072.5(SMARCA4):c.1261G>C (p.Val421Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met)
|
rs1555757536
|
|
|
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile)
|
rs765325777
|
|
|
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)
|
rs765325777
|
|
|
NM_003072.5(SMARCA4):c.1270A>C (p.Met424Leu)
|
rs1555757541
|
|
|
NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp)
|
rs2145878488
|
|
|
NM_003072.5(SMARCA4):c.1279G>A (p.Asp427Asn)
|
rs2086528184
|
|
|
NM_003072.5(SMARCA4):c.1279G>T (p.Asp427Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.127A>G (p.Met43Val)
|
rs375812959
|
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
|
NM_003072.5(SMARCA4):c.1282A>G (p.Thr428Ala)
|
rs2145878787
|
|
|
NM_003072.5(SMARCA4):c.1283C>A (p.Thr428Lys)
|
rs2086528346
|
|
|
NM_003072.5(SMARCA4):c.1285G>A (p.Ala429Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1291G>A (p.Glu431Lys)
|
rs1792421235
|
|
|
NM_003072.5(SMARCA4):c.1292A>G (p.Glu431Gly)
|
rs2145879071
|
|
|
NM_003072.5(SMARCA4):c.1295C>T (p.Thr432Ile)
|
rs2086529449
|
|
|
NM_003072.5(SMARCA4):c.129G>A (p.Met43Ile)
|
rs1599929580
|
|
|
NM_003072.5(SMARCA4):c.1300C>G (p.Leu434Val)
|
rs2145879278
|
|
|
NM_003072.5(SMARCA4):c.1304A>G (p.Asn435Ser)
|
rs1555757591
|
|
|
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr)
|
rs2086530559
|
|
|
NM_003072.5(SMARCA4):c.1307C>A (p.Ala436Asp)
|
rs1600023098
|
|
|
NM_003072.5(SMARCA4):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1316A>T (p.Tyr439Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.1319A>G (p.Lys440Arg)
|
rs2145879866
|
|
|
NM_003072.5(SMARCA4):c.1321C>A (p.Arg441Ser)
|
rs1600023226
|
|
|
NM_003072.5(SMARCA4):c.1321C>T (p.Arg441Cys)
|
rs1600023226
|
|
|
NM_003072.5(SMARCA4):c.1324A>C (p.Ser442Arg)
|
rs1600023338
|
|
|
NM_003072.5(SMARCA4):c.1331G>C (p.Arg444Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.1334A>G (p.Gln445Arg)
|
rs2086532633
|
|
|
NM_003072.5(SMARCA4):c.1335G>C (p.Gln445His)
|
rs1461859748
|
|
|
NM_003072.5(SMARCA4):c.1342C>T (p.Arg448Cys)
|
rs2086533643
|
|
|
NM_003072.5(SMARCA4):c.1343G>A (p.Arg448His)
|
rs1060502063
|
|
|
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser)
|
rs1204677224
|
|
|
NM_003072.5(SMARCA4):c.1349C>T (p.Ala450Val)
|
rs1555757651
|
|
|
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)
|
rs367601832
|
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
|
NM_003072.5(SMARCA4):c.1352G>A (p.Arg451His)
|
|
|
|
NM_003072.5(SMARCA4):c.1354A>G (p.Ile452Val)
|
rs2086535406
|
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
|
NM_003072.5(SMARCA4):c.1364A>G (p.Lys455Arg)
|
rs2086536067
|
|
|
NM_003072.5(SMARCA4):c.1381A>C (p.Lys461Gln)
|
rs757516325
|
|
|
NM_003072.5(SMARCA4):c.1382A>G (p.Lys461Arg)
|
rs1568434007
|
|
|
NM_003072.5(SMARCA4):c.1384A>G (p.Ile462Val)
|
rs2086537587
|
|
|
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met)
|
rs1265247876
|
|
|
NM_003072.5(SMARCA4):c.1387G>A (p.Glu463Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1398C>T (p.Arg466=)
|
rs2086538912
|
|
|
NM_003072.5(SMARCA4):c.1400A>G (p.Lys467Arg)
|
rs758203117
|
|
|
NM_003072.5(SMARCA4):c.1402C>T (p.Arg468Cys)
|
rs2145882413
|
|
|
NM_003072.5(SMARCA4):c.1405C>T (p.Arg469Trp)
|
rs1060502079
|
|
|
NM_003072.5(SMARCA4):c.1406G>A (p.Arg469Gln)
|
rs2145882558
|
|
|
NM_003072.5(SMARCA4):c.1409A>T (p.Gln470Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.1416C>G (p.His472Gln)
|
rs2086540721
|
|
|
NM_003072.5(SMARCA4):c.1417C>G (p.Gln473Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1419+3A>G
|
rs2086541272
|
|
|
NM_003072.5(SMARCA4):c.1419+5dup
|
|
|
|
NM_003072.5(SMARCA4):c.1419+6C>G
|
rs1366466358
|
|
|
NM_003072.5(SMARCA4):c.1419G>A (p.Gln473=)
|
rs2086540879
|
|
|
NM_003072.5(SMARCA4):c.1420-3C>G
|
rs777295398
|
|
|
NM_003072.5(SMARCA4):c.1420-6C>A
|
rs878854200
|
|
|
NM_003072.5(SMARCA4):c.1422A>C (p.Glu474Asp)
|
rs2086879917
|
|
|
NM_003072.5(SMARCA4):c.1426C>T (p.Leu476Phe)
|
rs1600067548
|
|
|
NM_003072.5(SMARCA4):c.142G>C (p.Gly48Arg)
|
rs2085816935
|
|
|
NM_003072.5(SMARCA4):c.1432A>T (p.Ser478Cys)
|
rs1555761983
|
|
|
NM_003072.5(SMARCA4):c.1434C>A (p.Ser478Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1451A>G (p.Lys484Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1458C>G (p.Phe486Leu)
|
rs1555762001
|
|
|
NM_003072.5(SMARCA4):c.1460A>G (p.Lys487Arg)
|
rs2086882004
|
|
|
NM_003072.5(SMARCA4):c.146C>T (p.Pro49Leu)
|
rs1464033862
|
|
|
NM_003072.5(SMARCA4):c.1475C>G (p.Ser492Cys)
|
rs2145938942
|
|
|
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile)
|
rs1060502098
|
|
|
NM_003072.5(SMARCA4):c.1483G>A (p.Gly495Ser)
|
rs1060502093
|
|
|
NM_003072.5(SMARCA4):c.1483G>T (p.Gly495Cys)
|
rs1060502093
|
|
|
NM_003072.5(SMARCA4):c.1487A>G (p.Lys496Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1488A>T (p.Lys496Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.148C>T (p.Pro50Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1507G>A (p.Ala503Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)
|
rs1555762079
|
|
|
NM_003072.5(SMARCA4):c.1514C>G (p.Ala505Gly)
|
rs1600068130
|
|
|
NM_003072.5(SMARCA4):c.1514C>T (p.Ala505Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1523_1524delinsGC (p.His508Arg)
|
rs2145940710
|
|
|
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)
|
rs1600068270
|
|
|
NM_003072.5(SMARCA4):c.1529A>G (p.Asn510Ser)
|
rs2086886078
|
|
|
NM_003072.5(SMARCA4):c.152C>T (p.Ser51Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.152CAG[1] (p.Ala52del)
|
|
|
|
NM_003072.5(SMARCA4):c.1532C>T (p.Thr511Met)
|
|
|
|
NM_003072.5(SMARCA4):c.1535A>T (p.Glu512Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1537C>T (p.Arg513Trp)
|
rs1207620630
|
|
|
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)
|
rs1060502103
|
|
|
NM_003072.5(SMARCA4):c.1550A>G (p.Lys517Arg)
|
rs2086887157
|
|
|
NM_003072.5(SMARCA4):c.155C>T (p.Ala52Val)
|
|
|
|
NM_003072.5(SMARCA4):c.1561C>T (p.Arg521Trp)
|
rs2145942104
|
|
|
NM_003072.5(SMARCA4):c.1562G>A (p.Arg521Gln)
|
rs990869140
|
|
|
NM_003072.5(SMARCA4):c.1564A>G (p.Ile522Val)
|
rs1568440731
|
|
|
NM_003072.5(SMARCA4):c.1579A>C (p.Met527Leu)
|
rs2145942762
|
|
|
NM_003072.5(SMARCA4):c.1583G>A (p.Arg528Gln)
|
rs1555762188
|
|
|
NM_003072.5(SMARCA4):c.1593+3A>G
|
rs1555762222
|
|
|
NM_003072.5(SMARCA4):c.1593+3A>T
|
rs1555762222
|
|
|
NM_003072.5(SMARCA4):c.1593+4T>C
|
rs1060502072
|
|
|
NM_003072.5(SMARCA4):c.1593+6G>A
|
rs2145943465
|
|
|
NM_003072.5(SMARCA4):c.1594-3T>C
|
rs1600081783
|
|
|
NM_003072.5(SMARCA4):c.1594-5T>G
|
rs1223041498
|
|
|
NM_003072.5(SMARCA4):c.1608G>C (p.Glu536Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1615C>T (p.Arg539Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.1616G>T (p.Arg539Leu)
|
rs1600081861
|
|
|
NM_003072.5(SMARCA4):c.1619A>G (p.Lys540Arg)
|
rs778357380
|
|
|
NM_003072.5(SMARCA4):c.161A>G (p.His54Arg)
|
rs1348866967
|
|
|
NM_003072.5(SMARCA4):c.1620G>T (p.Lys540Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1624A>G (p.Ile542Val)
|
rs2145969738
|
|
|
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)
|
rs1330092211
|
|
|
NM_003072.5(SMARCA4):c.163C>G (p.Pro55Ala)
|
rs1218848193
|
|
|
NM_003072.5(SMARCA4):c.164C>T (p.Pro55Leu)
|
rs747185602
|
|
|
NM_003072.5(SMARCA4):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1651G>T (p.Ala551Ser)
|
rs2087031286
|
|
|
NM_003072.5(SMARCA4):c.1655A>G (p.Tyr552Cys)
|
rs2087031445
|
|
|
NM_003072.5(SMARCA4):c.1665G>T (p.Gln555His)
|
|
|
|
NM_003072.5(SMARCA4):c.1666C>G (p.Gln556Glu)
|
rs1555763642
|
|
|
NM_003072.5(SMARCA4):c.166A>G (p.Ile56Val)
|
rs2085819103
|
|
|
NM_003072.5(SMARCA4):c.1678T>C (p.Tyr560His)
|
|
|
|
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)
|
rs765974121
|
|
|
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met)
|
rs1600082359
|
|
|
NM_003072.5(SMARCA4):c.1696G>C (p.Glu566Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1699C>A (p.Leu567Met)
|
|
|
|
NM_003072.5(SMARCA4):c.1702G>A (p.Val568Met)
|
rs1431755388
|
|
|
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp)
|
rs141090393
|
|
|
NM_003072.5(SMARCA4):c.170C>A (p.Pro57His)
|
|
|
|
NM_003072.5(SMARCA4):c.170C>G (p.Pro57Arg)
|
rs1568417458
|
|
|
NM_003072.5(SMARCA4):c.170C>T (p.Pro57Leu)
|
rs1568417458
|
|
|
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His)
|
rs1441370371
|
|
|
NM_003072.5(SMARCA4):c.1725G>T (p.Gln575His)
|
rs1441370371
|
|
|
NM_003072.5(SMARCA4):c.1726G>T (p.Val576Phe)
|
rs1555763737
|
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
|
NM_003072.5(SMARCA4):c.1729G>T (p.Ala577Ser)
|
rs1369374541
|
|
|
NM_003072.5(SMARCA4):c.1733A>G (p.Lys578Arg)
|
rs2145973682
|
|
|
NM_003072.5(SMARCA4):c.1735G>A (p.Glu579Lys)
|
rs2145973734
|
|
|
NM_003072.5(SMARCA4):c.1739A>T (p.Lys580Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.173C>T (p.Thr58Ile)
|
rs1555750978
|
|
|
NM_003072.5(SMARCA4):c.1743GAA[1] (p.Lys588del)
|
rs747503505
|
|
|
NM_003072.5(SMARCA4):c.1748A>C (p.Lys583Thr)
|
rs1043517699
|
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[1] (p.Lys587_Lys588del)
|
rs1600082918
|
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[3] (p.Lys587_Lys588dup)
|
rs1600082918
|
|
|
NM_003072.5(SMARCA4):c.1751A>G (p.Lys584Arg)
|
rs2087041246
|
|
|
NM_003072.5(SMARCA4):c.1753A>G (p.Lys585Glu)
|
rs2087041445
|
|
|
NM_003072.5(SMARCA4):c.1756A>C (p.Lys586Gln)
|
rs2145974399
|
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
|
NM_003072.5(SMARCA4):c.1759A>G (p.Lys587Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1761+3G>A
|
rs2087043325
|
|
|
NM_003072.5(SMARCA4):c.1761+5G>A
|
rs1555763822
|
|
|
NM_003072.5(SMARCA4):c.1761G>A (p.Lys587=)
|
|
|
|
NM_003072.5(SMARCA4):c.1762-10C>G
|
rs754221543
|
|
|
NM_003072.5(SMARCA4):c.1762-1G>A
|
rs2145980126
|
|
|
NM_003072.5(SMARCA4):c.1762-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.1762A>G (p.Lys588Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1763A>C (p.Lys588Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1765G>T (p.Ala589Ser)
|
rs765850087
|
|
|
NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)
|
rs1555763943
|
|
|
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1775C>G (p.Ala592Gly)
|
rs1060502064
|
|
|
NM_003072.5(SMARCA4):c.1775C>T (p.Ala592Val)
|
rs1060502064
|
|
|
NM_003072.5(SMARCA4):c.1777G>A (p.Glu593Lys)
|
rs1555763975
|
|
|
NM_003072.5(SMARCA4):c.1777G>C (p.Glu593Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
|
NM_003072.5(SMARCA4):c.177G>A (p.Gln59=)
|
rs868608270
|
|
|
NM_003072.5(SMARCA4):c.1780G>A (p.Gly594Arg)
|
rs2145980749
|
|
|
NM_003072.5(SMARCA4):c.1784A>G (p.Gln595Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1784A>T (p.Gln595Leu)
|
rs2087065585
|
|
|
NM_003072.5(SMARCA4):c.1787C>A (p.Thr596Lys)
|
rs779952581
|
|
|
NM_003072.5(SMARCA4):c.1789C>A (p.Pro597Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1789C>G (p.Pro597Ala)
|
rs1060502097
|
|
|
NM_003072.5(SMARCA4):c.1789C>T (p.Pro597Ser)
|
rs1060502097
|
|
|
NM_003072.5(SMARCA4):c.1792G>A (p.Ala598Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.1799G>A (p.Gly600Glu)
|
rs2145981386
|
|
|
NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)
|
|
|
|
NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln)
|
rs750113056
|
|
|
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu)
|
rs777544121
|
|
|
NM_003072.5(SMARCA4):c.1804G>A (p.Asp602Asn)
|
rs2087068449
|
|
|
NM_003072.5(SMARCA4):c.1805A>T (p.Asp602Val)
|
rs2087068642
|
|
|
NM_003072.5(SMARCA4):c.1812+2dup
|
rs2087069139
|
|
|
NM_003072.5(SMARCA4):c.1813-6_1813-4del
|
rs1864896196
|
|
|
NM_003072.5(SMARCA4):c.1813C>T (p.Pro605Ser)
|
rs1373012344
|
|
|
NM_003072.5(SMARCA4):c.1816C>G (p.Leu606Val)
|
rs1600132404
|
|
|
NM_003072.5(SMARCA4):c.1818G>A (p.Leu606=)
|
rs2146094508
|
|
|
NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser)
|
rs1555751015
|
|
|
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)
|
rs1600132436
|
|
|
NM_003072.5(SMARCA4):c.1822G>A (p.Glu608Lys)
|
rs2087806416
|
|
|
NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu)
|
rs2085820972
|
|
|
NM_003072.5(SMARCA4):c.1832A>T (p.Gln611Leu)
|
rs1600132569
|
|
|
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
|
NM_003072.5(SMARCA4):c.1856T>C (p.Val619Ala)
|
rs2087809409
|
|
|
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met)
|
rs141751028
|
|
|
NM_003072.5(SMARCA4):c.1861C>G (p.His621Asp)
|
rs2087809994
|
|
|
NM_003072.5(SMARCA4):c.1875G>T (p.Gly625=)
|
rs2087810760
|
|
|
NM_003072.5(SMARCA4):c.1877A>G (p.Lys626Arg)
|
rs2146096765
|
|
|
NM_003072.5(SMARCA4):c.1880T>C (p.Ile627Thr)
|
rs2087810954
|
|
|
NM_003072.5(SMARCA4):c.1881C>G (p.Ile627Met)
|
rs1451914629
|
|
|
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile)
|
rs1555768351
|
|
|
NM_003072.5(SMARCA4):c.1882C>T (p.Leu628Phe)
|
rs1555768351
|
|
|
NM_003072.5(SMARCA4):c.1885A>G (p.Thr629Ala)
|
rs2087811842
|
|
|
NM_003072.5(SMARCA4):c.1886C>A (p.Thr629Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.1886C>G (p.Thr629Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
|
NM_003072.5(SMARCA4):c.1894G>A (p.Asp632Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.1896T>A (p.Asp632Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.1896T>G (p.Asp632Glu)
|
rs1060502055
|
|
|
NM_003072.5(SMARCA4):c.1897G>A (p.Ala633Thr)
|
rs1555768376
|
|
|
NM_003072.5(SMARCA4):c.1897G>T (p.Ala633Ser)
|
rs1555768376
|
|
|
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)
|
rs1600133041
|
|
|
NM_003072.5(SMARCA4):c.1904A>G (p.Lys635Arg)
|
rs1600133088
|
|
|
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)
|
rs1600133106
|
|
|
NM_003072.5(SMARCA4):c.1908C>A (p.Ala636=)
|
rs548456029
|
|
|
NM_003072.5(SMARCA4):c.1909G>T (p.Gly637Trp)
|
rs917552239
|
|
|
NM_003072.5(SMARCA4):c.1914G>T (p.Gln638His)
|
rs1555768426
|
|
|
NM_003072.5(SMARCA4):c.191A>G (p.Tyr64Cys)
|
rs1599930186
|
|
|
NM_003072.5(SMARCA4):c.191A>T (p.Tyr64Phe)
|
rs1599930186
|
|
|
NM_003072.5(SMARCA4):c.1920G>T (p.Glu640Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1921G>A (p.Ala641Thr)
|
rs2146098679
|
|
|
NM_003072.5(SMARCA4):c.1933A>G (p.Met645Val)
|
rs763375817
|
|
|
NM_003072.5(SMARCA4):c.1934T>G (p.Met645Arg)
|
rs2087816849
|
|
|
NM_003072.5(SMARCA4):c.193C>G (p.Pro65Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>A
|
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>C
|
rs1600133534
|
|
|
NM_003072.5(SMARCA4):c.1943G>C (p.Gly648Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
|
NM_003072.5(SMARCA4):c.1946A>T (p.Tyr649Phe)
|
rs2146108000
|
|
|
NM_003072.5(SMARCA4):c.194C>T (p.Pro65Leu)
|
rs1568417564
|
|
|
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe)
|
rs1555768701
|
|
|
NM_003072.5(SMARCA4):c.1969A>G (p.Ser657Gly)
|
rs1600135788
|
|
|
NM_003072.5(SMARCA4):c.1976A>G (p.Glu659Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.1977A>C (p.Glu659Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.1978A>C (p.Ser660Arg)
|
rs2087846584
|
|
|
NM_003072.5(SMARCA4):c.1979G>C (p.Ser660Thr)
|
rs1600135848
|
|
|
NM_003072.5(SMARCA4):c.1981G>A (p.Gly661Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.1982G>T (p.Gly661Val)
|
rs367689657
|
|
|
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu)
|
rs1060502104
|
|
|
NM_003072.5(SMARCA4):c.1986AGA[2] (p.Glu672del)
|
|
|
|
NM_003072.5(SMARCA4):c.1988A>G (p.Glu663Gly)
|
rs2146109504
|
|
|
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala)
|
rs754483795
|
|
|
NM_003072.5(SMARCA4):c.1994A>G (p.Glu665Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.199G>A (p.Asp67Asn)
|
rs2085821918
|
|
|
NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2001+4A>G
|
rs1343722342
|
|
|
NM_003072.5(SMARCA4):c.2001+6A>G
|
|
|
|
NM_003072.5(SMARCA4):c.2001+6_2001+7del
|
rs2087849684
|
|
|
NM_003072.5(SMARCA4):c.2001G>A (p.Glu667=)
|
rs1600136048
|
|
|
NM_003072.5(SMARCA4):c.2001G>C (p.Glu667Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys)
|
rs1060502105
|
|
|
NM_003072.5(SMARCA4):c.2002G>C (p.Glu668Gln)
|
rs1060502105
|
|
|
NM_003072.5(SMARCA4):c.2006A>G (p.Glu669Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2006A>T (p.Glu669Val)
|
rs1600167346
|
|
|
NM_003072.5(SMARCA4):c.2008G>C (p.Glu670Gln)
|
rs1222324445
|
|
|
NM_003072.5(SMARCA4):c.2014G>A (p.Glu672Lys)
|
rs2088394203
|
|
|
NM_003072.5(SMARCA4):c.2015A>T (p.Glu672Val)
|
rs1600167444
|
|
|
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp)
|
rs772356536
|
|
|
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2023C>G (p.Gln675Glu)
|
rs2146190601
|
|
|
NM_003072.5(SMARCA4):c.2024A>T (p.Gln675Leu)
|
rs1299276425
|
|
|
NM_003072.5(SMARCA4):c.2026G>A (p.Ala676Thr)
|
rs2146190685
|
|
|
NM_003072.5(SMARCA4):c.2027C>T (p.Ala676Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
|
NM_003072.5(SMARCA4):c.2033A>T (p.Gln678Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2035C>G (p.Pro679Ala)
|
rs770115402
|
|
|
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg)
|
rs1555771583
|
|
|
NM_003072.5(SMARCA4):c.2036C>T (p.Pro679Leu)
|
rs1555771583
|
|
|
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
|
|
|
|
NM_003072.5(SMARCA4):c.2039C>T (p.Pro680Leu)
|
rs1600167712
|
|
|
NM_003072.5(SMARCA4):c.203A>G (p.Asn68Ser)
|
rs2145726484
|
|
|
NM_003072.5(SMARCA4):c.2042C>T (p.Thr681Ile)
|
rs2088398438
|
|
|
NM_003072.5(SMARCA4):c.2044C>A (p.Leu682Met)
|
rs773252889
|
|
|
NM_003072.5(SMARCA4):c.2048C>G (p.Pro683Arg)
|
rs878854203
|
|
|
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu)
|
rs878854203
|
|
|
NM_003072.5(SMARCA4):c.2051T>C (p.Val684Ala)
|
rs979444190
|
|
|
NM_003072.5(SMARCA4):c.2053GAG[1] (p.Glu686del)
|
|
|
|
NM_003072.5(SMARCA4):c.2056G>A (p.Glu686Lys)
|
rs1555771625
|
|
|
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly)
|
rs924158571
|
|
|
NM_003072.5(SMARCA4):c.2057AGA[3] (p.Lys689del)
|
rs765524239
|
|
|
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu)
|
rs751565055
|
|
|
NM_003072.5(SMARCA4):c.2061G>T (p.Lys687Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.2069T>C (p.Ile690Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2071C>T (p.Pro691Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2072C>T (p.Pro691Leu)
|
rs2146192320
|
|
|
NM_003072.5(SMARCA4):c.2078C>G (p.Pro693Arg)
|
rs2088404188
|
|
|
NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile)
|
rs754815286
|
|
|
NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile)
|
rs754815286
|
|
|
NM_003072.5(SMARCA4):c.2082C>G (p.Asp694Glu)
|
rs373420556
|
|
|
NM_003072.5(SMARCA4):c.2083A>G (p.Ser695Gly)
|
rs2088404711
|
|
|
NM_003072.5(SMARCA4):c.2084G>A (p.Ser695Asn)
|
rs755519197
|
|
|
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)
|
rs1600168312
|
|
|
NM_003072.5(SMARCA4):c.208C>G (p.His70Asp)
|
rs1266506498
|
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
|
NM_003072.5(SMARCA4):c.2096C>G (p.Ser699Cys)
|
rs2088406134
|
|
|
NM_003072.5(SMARCA4):c.209A>C (p.His70Pro)
|
rs1568417600
|
|
|
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)
|
rs1568416569
|
|
|
NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg)
|
rs1568416569
|
|
|
NM_003072.5(SMARCA4):c.2102T>G (p.Val701Gly)
|
rs1307425251
|
|
|
NM_003072.5(SMARCA4):c.2104G>T (p.Asp702Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.2107G>A (p.Ala703Thr)
|
rs1555771662
|
|
|
NM_003072.5(SMARCA4):c.2107G>T (p.Ala703Ser)
|
rs1555771662
|
|
|
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val)
|
rs550731833
|
|
|
NM_003072.5(SMARCA4):c.210C>A (p.His70Gln)
|
rs1599930337
|
|
|
NM_003072.5(SMARCA4):c.2111G>A (p.Arg704Gln)
|
rs1248744047
|
|
|
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del)
|
rs1555771687
|
|
|
NM_003072.5(SMARCA4):c.2120T>C (p.Ile707Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2124-3C>T
|
rs1555773222
|
|
|
NM_003072.5(SMARCA4):c.212A>G (p.Gln71Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys)
|
rs1555751056
|
|
|
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg)
|
rs1555773235
|
|
|
NM_003072.5(SMARCA4):c.2132A>T (p.Lys711Met)
|
rs1555773235
|
|
|
NM_003072.5(SMARCA4):c.213G>C (p.Gln71His)
|
rs1489673789
|
|
|
NM_003072.5(SMARCA4):c.2140G>A (p.Val714Ile)
|
rs2088711962
|
|
|
NM_003072.5(SMARCA4):c.2155G>A (p.Gly719Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2155G>C (p.Gly719Arg)
|
rs2088712670
|
|
|
NM_003072.5(SMARCA4):c.2156G>C (p.Gly719Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2158G>A (p.Val720Met)
|
rs1555773256
|
|
|
NM_003072.5(SMARCA4):c.2162_2163delinsGT (p.Ser721Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.216G>A (p.Met72Ile)
|
rs1568417674
|
|
|
NM_003072.5(SMARCA4):c.2170C>G (p.Leu724Val)
|
rs2088715054
|
|
|
NM_003072.5(SMARCA4):c.2173G>C (p.Ala725Pro)
|
rs2146235353
|
|
|
NM_003072.5(SMARCA4):c.2187G>T (p.Gln729His)
|
rs2146236007
|
|
|
NM_003072.5(SMARCA4):c.218A>T (p.His73Leu)
|
rs748147246
|
|
|
NM_003072.5(SMARCA4):c.2212G>T (p.Val738Phe)
|
rs370273427
|
|
|
NM_003072.5(SMARCA4):c.2215A>G (p.Thr739Ala)
|
rs2146237158
|
|
|
NM_003072.5(SMARCA4):c.2216C>G (p.Thr739Ser)
|
rs2088718305
|
|
|
NM_003072.5(SMARCA4):c.2216C>T (p.Thr739Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.222+3A>G
|
rs2145727267
|
|
|
NM_003072.5(SMARCA4):c.222+5G>A
|
rs1555751086
|
|
|
NM_003072.5(SMARCA4):c.222+5G>C
|
rs1555751086
|
|
|
NM_003072.5(SMARCA4):c.222+6G>T
|
rs769669992
|
|
|
NM_003072.5(SMARCA4):c.222+6del
|
|
|
|
NM_003072.5(SMARCA4):c.2221A>G (p.Arg741Gly)
|
rs1555773339
|
|
|
NM_003072.5(SMARCA4):c.2227G>A (p.Asp743Asn)
|
rs2146237488
|
|
|
NM_003072.5(SMARCA4):c.2230A>G (p.Lys744Glu)
|
rs771723542
|
|
|
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)
|
rs886054153
|
|
|
NM_003072.5(SMARCA4):c.2242C>T (p.Leu748Phe)
|
rs2088720910
|
|
|
NM_003072.5(SMARCA4):c.2246T>C (p.Met749Thr)
|
rs1555773400
|
|
|
NM_003072.5(SMARCA4):c.2247G>C (p.Met749Ile)
|
rs2088721594
|
|
|
NM_003072.5(SMARCA4):c.2248G>T (p.Val750Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.2248_2249insGGG (p.Met749_Val750insGly)
|
rs2088721909
|
|
|
NM_003072.5(SMARCA4):c.2249T>A (p.Val750Asp)
|
rs572673381
|
|
|
NM_003072.5(SMARCA4):c.2255G>A (p.Gly752Asp)
|
rs2088722543
|
|
|
NM_003072.5(SMARCA4):c.226A>G (p.Met76Val)
|
rs1225673675
|
|
|
NM_003072.5(SMARCA4):c.2274+12G>T
|
|
|
|
NM_003072.5(SMARCA4):c.2274+5G>A
|
rs775519333
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>G
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.2276T>C (p.Ile759Thr)
|
rs878854206
|
|
|
NM_003072.5(SMARCA4):c.2279A>C (p.Lys760Thr)
|
rs2088998992
|
|
|
NM_003072.5(SMARCA4):c.2279A>G (p.Lys760Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)
|
rs1599940473
|
|
|
NM_003072.5(SMARCA4):c.2281_2282delinsAA (p.Gly761Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.228G>C (p.Met76Ile)
|
rs2085924643
|
|
|
NM_003072.5(SMARCA4):c.229_237del (p.Glu77_Met79del)
|
|
|
|
NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2310C>A (p.Asn770Lys)
|
rs2146277679
|
|
|
NM_003072.5(SMARCA4):c.2314A>G (p.Asn772Asp)
|
rs2146277781
|
|
|
NM_003072.5(SMARCA4):c.2323G>A (p.Gly775Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.232T>C (p.Ser78Pro)
|
rs878854207
|
|
|
NM_003072.5(SMARCA4):c.232T>G (p.Ser78Ala)
|
rs878854207
|
|
|
NM_003072.5(SMARCA4):c.2338G>A (p.Glu780Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr)
|
rs1555751949
|
|
|
NM_003072.5(SMARCA4):c.233C>T (p.Ser78Phe)
|
rs1555751949
|
|
|
NM_003072.5(SMARCA4):c.2341A>T (p.Met781Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.235A>T (p.Met79Leu)
|
rs767638396
|
|
|
NM_003072.5(SMARCA4):c.2363A>G (p.Gln788Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2368A>G (p.Ile790Val)
|
|
|
|
NM_003072.5(SMARCA4):c.236T>C (p.Met79Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2371G>A (p.Ala791Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2372C>T (p.Ala791Val)
|
rs1263140481
|
|
|
NM_003072.5(SMARCA4):c.2374C>G (p.Leu792Val)
|
rs2146279816
|
|
|
NM_003072.5(SMARCA4):c.2380A>T (p.Thr794Ser)
|
rs2089006879
|
|
|
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)
|
rs1193519882
|
|
|
NM_003072.5(SMARCA4):c.2394G>T (p.Glu798Asp)
|
rs1555774749
|
|
|
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg)
|
rs2145748661
|
|
|
NM_003072.5(SMARCA4):c.239A>T (p.His80Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2401C>T (p.Arg801Cys)
|
rs2089008771
|
|
|
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His)
|
rs1568471266
|
|
|
NM_003072.5(SMARCA4):c.2404A>C (p.Ile802Leu)
|
rs1454445195
|
|
|
NM_003072.5(SMARCA4):c.2407A>T (p.Asn803Tyr)
|
rs2089009656
|
|
|
NM_003072.5(SMARCA4):c.2408A>G (p.Asn803Ser)
|
rs2146280868
|
|
|
NM_003072.5(SMARCA4):c.2416T>A (p.Phe806Ile)
|
rs2089010016
|
|
|
NM_003072.5(SMARCA4):c.2418C>A (p.Phe806Leu)
|
rs770432256
|
|
|
NM_003072.5(SMARCA4):c.2423T>G (p.Ile808Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2425A>G (p.Ile809Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2428G>T (p.Val810Leu)
|
rs1060502056
|
|
|
NM_003072.5(SMARCA4):c.2438+3G>T
|
rs759309497
|
|
|
NM_003072.5(SMARCA4):c.243G>T (p.Glu81Asp)
|
rs1060504435
|
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
|
NM_003072.5(SMARCA4):c.2450A>G (p.Asn817Ser)
|
rs2146359567
|
|
|
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr)
|
rs767743765
|
|
|
NM_003072.5(SMARCA4):c.245A>G (p.Lys82Arg)
|
rs2085926327
|
|
|
NM_003072.5(SMARCA4):c.2469C>G (p.Asp823Glu)
|
rs1568481575
|
|
|
NM_003072.5(SMARCA4):c.2471A>G (p.Lys824Arg)
|
rs2089622665
|
|
|
NM_003072.5(SMARCA4):c.2471A>T (p.Lys824Met)
|
rs2089622665
|
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
|
NM_003072.5(SMARCA4):c.2480C>T (p.Pro827Leu)
|
rs2089623348
|
|
|
NM_003072.5(SMARCA4):c.2485G>A (p.Val829Met)
|
rs1338927115
|
|
|
NM_003072.5(SMARCA4):c.2488G>A (p.Val830Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2492A>G (p.Lys831Arg)
|
rs2089624620
|
|
|
NM_003072.5(SMARCA4):c.2497T>A (p.Ser833Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.2504A>G (p.Lys835Arg)
|
rs2089625509
|
|
|
NM_003072.5(SMARCA4):c.2505+6T>C
|
rs1255103191
|
|
|
NM_003072.5(SMARCA4):c.2506-6T>G
|
|
|
|
NM_003072.5(SMARCA4):c.2506G>C (p.Gly836Arg)
|
rs2089678643
|
|
|
NM_003072.5(SMARCA4):c.250A>G (p.Met84Val)
|
rs1568419761
|
|
|
NM_003072.5(SMARCA4):c.250A>T (p.Met84Leu)
|
rs1568419761
|
|
|
NM_003072.5(SMARCA4):c.2510C>G (p.Ser837Cys)
|
rs2146372900
|
|
|
NM_003072.5(SMARCA4):c.2513C>T (p.Pro838Leu)
|
rs2089678940
|
|
|
NM_003072.5(SMARCA4):c.2515G>A (p.Ala839Thr)
|
rs2089679090
|
|
|
NM_003072.5(SMARCA4):c.2524C>T (p.Arg842Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.2527G>A (p.Ala843Thr)
|
rs2146373575
|
|
|
NM_003072.5(SMARCA4):c.2530T>G (p.Phe844Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2533G>T (p.Val845Phe)
|
rs878854210
|
|
|
NM_003072.5(SMARCA4):c.2536C>G (p.Pro846Ala)
|
rs2089681158
|
|
|
NM_003072.5(SMARCA4):c.2536C>T (p.Pro846Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2540A>G (p.Gln847Arg)
|
rs2089681473
|
|
|
NM_003072.5(SMARCA4):c.2545C>A (p.Arg849=)
|
rs1600257935
|
|
|
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp)
|
rs1600257935
|
|
|
NM_003072.5(SMARCA4):c.2546G>A (p.Arg849Gln)
|
rs1213692147
|
|
|
NM_003072.5(SMARCA4):c.2553G>T (p.Gly851=)
|
rs1167535267
|
|
|
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2563G>A (p.Val855Ile)
|
rs1600258142
|
|
|
NM_003072.5(SMARCA4):c.2573C>T (p.Thr858Met)
|
rs1480398200
|
|
|
NM_003072.5(SMARCA4):c.257A>G (p.Asp86Gly)
|
rs2145749357
|
|
|
NM_003072.5(SMARCA4):c.2585A>G (p.Tyr862Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2587A>G (p.Ile863Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2597A>G (p.Asp866Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2598C>A (p.Asp866Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.259G>A (p.Asp87Asn)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.259G>C (p.Asp87His)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.259G>T (p.Asp87Tyr)
|
rs1366085446
|
|
|
NM_003072.5(SMARCA4):c.2600A>G (p.Lys867Arg)
|
rs1555777820
|
|
|
NM_003072.5(SMARCA4):c.2605A>G (p.Ile869Val)
|
rs2146376383
|
|
|
NM_003072.5(SMARCA4):c.2607C>G (p.Ile869Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2611G>A (p.Ala871Thr)
|
rs765073845
|
|
|
NM_003072.5(SMARCA4):c.2616+2_2616+5dup
|
rs1555777830
|
|
|
NM_003072.5(SMARCA4):c.2616+4A>G
|
rs1375792226
|
|
|
NM_003072.5(SMARCA4):c.2616+6G>T
|
rs766415751
|
|
|
NM_003072.5(SMARCA4):c.2616G>A (p.Lys872=)
|
|
|
|
NM_003072.5(SMARCA4):c.2617-15C>G
|
|
|
|
NM_003072.5(SMARCA4):c.2617-4G>T
|
rs201020451
|
|
|
NM_003072.5(SMARCA4):c.2617A>G (p.Ile873Val)
|
rs2146414847
|
|
|
NM_003072.5(SMARCA4):c.2621G>A (p.Arg874His)
|
rs1378511462
|
|
|
NM_003072.5(SMARCA4):c.2627A>G (p.Lys876Arg)
|
rs1600277756
|
|
|
NM_003072.5(SMARCA4):c.2629T>C (p.Tyr877His)
|
rs1555778688
|
|
|
NM_003072.5(SMARCA4):c.2629T>G (p.Tyr877Asp)
|
rs1555778688
|
|
|
NM_003072.5(SMARCA4):c.262C>A (p.Pro88Thr)
|
rs1555751997
|
|
|
NM_003072.5(SMARCA4):c.262C>T (p.Pro88Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr)
|
rs1600277882
|
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
|
NM_003072.5(SMARCA4):c.2658G>A (p.Met886Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)
|
rs1568419849
|
|
|
NM_003072.5(SMARCA4):c.2665C>T (p.His889Tyr)
|
rs2146416653
|
|
|
NM_003072.5(SMARCA4):c.266G>T (p.Arg89Leu)
|
rs1599941069
|
|
|
NM_003072.5(SMARCA4):c.2670C>G (p.His890Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.2688G>A (p.Val896=)
|
|
|
|
NM_003072.5(SMARCA4):c.2695A>T (p.Thr899Ser)
|
rs2146417780
|
|
|
NM_003072.5(SMARCA4):c.2696C>T (p.Thr899Met)
|
rs1401056652
|
|
|
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg)
|
rs1600278214
|
|
|
NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp)
|
rs2145720650
|
|
|
NM_003072.5(SMARCA4):c.2702A>G (p.Tyr901Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
|
NM_003072.5(SMARCA4):c.2710C>T (p.Pro904Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2713C>G (p.Arg905Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
|
NM_003072.5(SMARCA4):c.2717G>A (p.Arg906His)
|
rs2089896271
|
|
|
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met)
|
rs1238758086
|
|
|
NM_003072.5(SMARCA4):c.272A>G (p.Asn91Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.2734A>G (p.Thr912Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2735C>T (p.Thr912Ile)
|
rs1600278606
|
|
|
NM_003072.5(SMARCA4):c.273C>A (p.Asn91Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.274C>G (p.Gln92Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2750A>G (p.Lys917Arg)
|
rs771165740
|
|
|
NM_003072.5(SMARCA4):c.275_276delinsCC (p.Gln92Pro)
|
rs2085928938
|
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
|
NM_003072.5(SMARCA4):c.277A>T (p.Met93Leu)
|
rs777647740
|
|
|
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro)
|
rs1555778801
|
|
|
NM_003072.5(SMARCA4):c.279G>A (p.Met93Ile)
|
rs2145750364
|
|
|
NM_003072.5(SMARCA4):c.2810G>A (p.Ser937Asn)
|
rs981910345
|
|
|
NM_003072.5(SMARCA4):c.2818G>A (p.Glu940Lys)
|
rs1568487189
|
|
|
NM_003072.5(SMARCA4):c.2833G>A (p.Ala945Thr)
|
rs1445478818
|
|
|
NM_003072.5(SMARCA4):c.2845A>T (p.Met949Leu)
|
rs2146423428
|
|
|
NM_003072.5(SMARCA4):c.284G>A (p.Gly95Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.2852G>A (p.Gly951Glu)
|
rs2146423728
|
|
|
NM_003072.5(SMARCA4):c.2858A>G (p.Lys953Arg)
|
rs1256465004
|
|
|
NM_003072.5(SMARCA4):c.2859+3G>A
|
rs2089905213
|
|
|
NM_003072.5(SMARCA4):c.2859+4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2860-3C>T
|
rs757292816
|
|
|
NM_003072.5(SMARCA4):c.287T>A (p.Met96Lys)
|
rs2145750571
|
|
|
NM_003072.5(SMARCA4):c.2881A>G (p.Thr961Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2882C>T (p.Thr961Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.2884A>G (p.Ile962Val)
|
|
|
|
NM_003072.5(SMARCA4):c.2891T>C (p.Ile964Thr)
|
rs2090025960
|
|
|
NM_003072.5(SMARCA4):c.2897G>C (p.Arg966Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
|
NM_003072.5(SMARCA4):c.290G>C (p.Gly97Ala)
|
rs1056057044
|
|
|
NM_003072.5(SMARCA4):c.290G>T (p.Gly97Val)
|
rs1056057044
|
|
|
NM_003072.5(SMARCA4):c.2911G>A (p.Val971Met)
|
rs2090026904
|
|
|
NM_003072.5(SMARCA4):c.2918G>A (p.Arg973Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.2918G>C (p.Arg973Pro)
|
rs2090027331
|
|
|
NM_003072.5(SMARCA4):c.292A>G (p.Met98Val)
|
|
|
|
NM_003072.5(SMARCA4):c.292A>T (p.Met98Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
|
NM_003072.5(SMARCA4):c.293T>C (p.Met98Thr)
|
rs1555752060
|
|
|
NM_003072.5(SMARCA4):c.294G>T (p.Met98Ile)
|
rs757214683
|
|
|
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr)
|
rs1555779631
|
|
|
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)
|
rs778890805
|
|
|
NM_003072.5(SMARCA4):c.295_318dup (p.Arg99_Met106dup)
|
rs1599941221
|
|
|
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)
|
rs745406632
|
|
|
NM_003072.5(SMARCA4):c.2973+10T>G
|
rs2090031606
|
|
|
NM_003072.5(SMARCA4):c.2973+4A>G
|
rs2090030962
|
|
|
NM_003072.5(SMARCA4):c.2973+6G>A
|
|
|
|
NM_003072.5(SMARCA4):c.2974-9C>A
|
rs371801361
|
|
|
NM_003072.5(SMARCA4):c.2974-9_2974-8delinsTT
|
|
|
|
NM_003072.5(SMARCA4):c.2974G>A (p.Val992Met)
|
|
|
|
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)
|
rs1600300689
|
|
|
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.2986A>G (p.Ile996Val)
|
|
|
|
NM_003072.5(SMARCA4):c.298T>G (p.Ser100Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.2990A>G (p.Lys997Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.2993G>A (p.Cys998Tyr)
|
rs2146472537
|
|
|
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn)
|
rs1555779989
|
|
|
NM_003072.5(SMARCA4):c.2996A>C (p.Asp999Ala)
|
rs2090098830
|
|
|
NM_003072.5(SMARCA4):c.2998A>G (p.Met1000Val)
|
rs1600300787
|
|
|
NM_003072.5(SMARCA4):c.299C>T (p.Ser100Leu)
|
rs2145750976
|
|
|
NM_003072.5(SMARCA4):c.3008T>G (p.Leu1003Arg)
|
rs2090099530
|
|
|
NM_003072.5(SMARCA4):c.3011A>G (p.Gln1004Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3014G>A (p.Arg1005Gln)
|
rs1555780008
|
|
|
NM_003072.5(SMARCA4):c.301G>C (p.Gly101Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3023A>C (p.Tyr1008Ser)
|
rs2146473833
|
|
|
NM_003072.5(SMARCA4):c.3025C>T (p.Arg1009Cys)
|
rs777562578
|
|
|
NM_003072.5(SMARCA4):c.3026G>T (p.Arg1009Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3028C>A (p.His1010Asn)
|
rs2146474042
|
|
|
NM_003072.5(SMARCA4):c.3029A>G (p.His1010Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.302G>A (p.Gly101Glu)
|
rs1555752083
|
|
|
NM_003072.5(SMARCA4):c.3037G>A (p.Ala1013Thr)
|
rs1600301106
|
|
|
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)
|
rs779627018
|
|
|
NM_003072.5(SMARCA4):c.305G>A (p.Gly102Asp)
|
rs746602808
|
|
|
NM_003072.5(SMARCA4):c.305G>C (p.Gly102Ala)
|
rs746602808
|
|
|
NM_003072.5(SMARCA4):c.3065C>T (p.Ser1022Phe)
|
rs2090102305
|
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
|
NM_003072.5(SMARCA4):c.3081+3G>A
|
rs2090103237
|
|
|
NM_003072.5(SMARCA4):c.3081+3_3081+4delinsCA
|
rs1555780058
|
|
|
NM_003072.5(SMARCA4):c.3081+4G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3081+6C>G
|
|
|
|
NM_003072.5(SMARCA4):c.308A>T (p.His103Leu)
|
rs770147215
|
|
|
NM_003072.5(SMARCA4):c.3091G>A (p.Gly1031Ser)
|
rs749947536
|
|
|
NM_003072.5(SMARCA4):c.3095C>G (p.Thr1032Ser)
|
rs2146496372
|
|
|
NM_003072.5(SMARCA4):c.3101C>A (p.Thr1034Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
|
NM_003072.5(SMARCA4):c.3101_3102delinsTT (p.Thr1034Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.310G>A (p.Ala104Thr)
|
rs1599941622
|
|
|
NM_003072.5(SMARCA4):c.310G>T (p.Ala104Ser)
|
rs1599941622
|
|
|
NM_003072.5(SMARCA4):c.3118A>G (p.Met1040Val)
|
|
|
|
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)
|
rs1555752113
|
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
|
NM_003072.5(SMARCA4):c.3142C>T (p.His1048Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3149A>T (p.Tyr1050Phe)
|
rs2090184575
|
|
|
NM_003072.5(SMARCA4):c.3151A>G (p.Met1051Val)
|
rs2146498393
|
|
|
NM_003072.5(SMARCA4):c.3151A>T (p.Met1051Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3161A>C (p.His1054Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3165C>G (p.Ile1055Met)
|
|
|
|
NM_003072.5(SMARCA4):c.3168+6C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3169G>C (p.Glu1057Gln)
|
rs1555781050
|
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
|
NM_003072.5(SMARCA4):c.316A>T (p.Met106Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3172T>G (p.Ser1058Ala)
|
rs1568495291
|
|
|
NM_003072.5(SMARCA4):c.317T>G (p.Met106Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3181G>A (p.Glu1061Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.318G>A (p.Met106Ile)
|
rs1555752136
|
|
|
NM_003072.5(SMARCA4):c.3190G>A (p.Gly1064Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3196A>G (p.Thr1066Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3197C>A (p.Thr1066Asn)
|
rs1555781082
|
|
|
NM_003072.5(SMARCA4):c.3197C>T (p.Thr1066Ile)
|
rs1555781082
|
|
|
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)
|
rs1060502067
|
|
|
NM_003072.5(SMARCA4):c.3200G>A (p.Gly1067Asp)
|
rs2090254973
|
|
|
NM_003072.5(SMARCA4):c.3205A>G (p.Ile1069Val)
|
rs1555781098
|
|
|
NM_003072.5(SMARCA4):c.320G>T (p.Gly107Val)
|
|
|
|
NM_003072.5(SMARCA4):c.3215+5G>A
|
rs2090256316
|
|
|
NM_003072.5(SMARCA4):c.3216-17C>A
|
|
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3232G>C (p.Ala1078Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3233C>G (p.Ala1078Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.323C>T (p.Pro108Leu)
|
rs1198747280
|
|
|
NM_003072.5(SMARCA4):c.3249G>C (p.Glu1083Asp)
|
rs1600335341
|
|
|
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)
|
rs1600335439
|
|
|
NM_003072.5(SMARCA4):c.325C>T (p.Pro109Ser)
|
rs2085934580
|
|
|
NM_003072.5(SMARCA4):c.3262A>G (p.Ile1088Val)
|
rs2090374012
|
|
|
NM_003072.5(SMARCA4):c.3265C>T (p.Leu1089Phe)
|
rs1600335596
|
|
|
NM_003072.5(SMARCA4):c.3268C>T (p.Pro1090Ser)
|
rs2146542763
|
|
|
NM_003072.5(SMARCA4):c.3271A>G (p.Lys1091Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg)
|
rs1555781772
|
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
|
NM_003072.5(SMARCA4):c.3278G>T (p.Arg1093Leu)
|
rs1568498301
|
|
|
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)
|
rs1600335831
|
|
|
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser)
|
rs1354262139
|
|
|
NM_003072.5(SMARCA4):c.328C>T (p.Pro110Ser)
|
rs2145752088
|
|
|
NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser)
|
rs1568416665
|
|
|
NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile)
|
rs1568416665
|
|
|
NM_003072.5(SMARCA4):c.3301C>G (p.Leu1101Val)
|
rs1600336031
|
|
|
NM_003072.5(SMARCA4):c.3315G>T (p.Met1105Ile)
|
rs2090376788
|
|
|
NM_003072.5(SMARCA4):c.3316A>G (p.Thr1106Ala)
|
rs2146544445
|
|
|
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)
|
rs1599941986
|
|
|
NM_003072.5(SMARCA4):c.3320C>T (p.Ser1107Phe)
|
rs2146544542
|
|
|
NM_003072.5(SMARCA4):c.3331A>G (p.Ile1111Val)
|
rs2090377448
|
|
|
NM_003072.5(SMARCA4):c.3348T>G (p.Phe1116Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)
|
rs548906832
|
|
|
NM_003072.5(SMARCA4):c.334C>G (p.Pro112Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.3350C>G (p.Ala1117Gly)
|
rs755069412
|
|
|
NM_003072.5(SMARCA4):c.3353A>G (p.Tyr1118Cys)
|
rs2146545716
|
|
|
NM_003072.5(SMARCA4):c.3355C>G (p.Arg1119Gly)
|
rs2090378511
|
|
|
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)
|
rs2090378511
|
|
|
NM_003072.5(SMARCA4):c.3358G>T (p.Gly1120Cys)
|
rs373590049
|
|
|
NM_003072.5(SMARCA4):c.3362T>A (p.Phe1121Tyr)
|
rs2146546041
|
|
|
NM_003072.5(SMARCA4):c.3365A>G (p.Lys1122Arg)
|
rs2146546121
|
|
|
NM_003072.5(SMARCA4):c.3368A>G (p.Tyr1123Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)
|
rs774919609
|
|
|
NM_003072.5(SMARCA4):c.3381T>C (p.Asp1127=)
|
|
|
|
NM_003072.5(SMARCA4):c.3382+3_3382+6del
|
rs2090379999
|
|
|
NM_003072.5(SMARCA4):c.3382_3382+3dup
|
|
|
|
NM_003072.5(SMARCA4):c.3383-3C>G
|
rs371558035
|
|
|
NM_003072.5(SMARCA4):c.3383G>A (p.Gly1128Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3389C>T (p.Thr1130Met)
|
|
|
|
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)
|
rs1175163671
|
|
|
NM_003072.5(SMARCA4):c.338T>G (p.Met113Arg)
|
rs1175163671
|
|
|
NM_003072.5(SMARCA4):c.3394G>T (p.Ala1132Ser)
|
rs2146597778
|
|
|
NM_003072.5(SMARCA4):c.3395C>T (p.Ala1132Val)
|
rs1555783136
|
|
|
NM_003072.5(SMARCA4):c.3402C>A (p.Asp1134Glu)
|
rs2074871664
|
|
|
NM_003072.5(SMARCA4):c.3407G>A (p.Gly1136Asp)
|
rs2074871956
|
|
|
NM_003072.5(SMARCA4):c.340G>T (p.Asp114Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3427_3429del (p.Asn1143del)
|
rs2074872807
|
|
|
NM_003072.5(SMARCA4):c.3430G>A (p.Glu1144Lys)
|
rs1600364662
|
|
|
NM_003072.5(SMARCA4):c.3433C>T (p.Pro1145Ser)
|
rs2146599286
|
|
|
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys)
|
rs200007170
|
|
|
NM_003072.5(SMARCA4):c.3437G>T (p.Gly1146Val)
|
rs566531015
|
|
|
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)
|
rs1555783190
|
|
|
NM_003072.5(SMARCA4):c.3445T>C (p.Tyr1149His)
|
rs2074875124
|
|
|
NM_003072.5(SMARCA4):c.3446A>G (p.Tyr1149Cys)
|
rs2074875260
|
|
|
NM_003072.5(SMARCA4):c.3451A>G (p.Ile1151Val)
|
rs544231909
|
|
|
NM_003072.5(SMARCA4):c.345G>C (p.Gln115His)
|
rs2085937175
|
|
|
NM_003072.5(SMARCA4):c.346C>T (p.His116Tyr)
|
rs1599942158
|
|
|
NM_003072.5(SMARCA4):c.3479G>A (p.Gly1160Glu)
|
rs2074877069
|
|
|
NM_003072.5(SMARCA4):c.347A>G (p.His116Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3500C>G (p.Ser1167Trp)
|
rs1192589668
|
|
|
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)
|
rs759594383
|
|
|
NM_003072.5(SMARCA4):c.3514A>G (p.Ile1172Val)
|
|
|
|
NM_003072.5(SMARCA4):c.3546+3A>G
|
rs2074879994
|
|
|
NM_003072.5(SMARCA4):c.3546+5A>G
|
|
|
|
NM_003072.5(SMARCA4):c.3547-3del
|
rs2075055829
|
|
|
NM_003072.5(SMARCA4):c.354A>C (p.Gln118His)
|
rs1329881837
|
|
|
NM_003072.5(SMARCA4):c.355+6G>A
|
rs2085939729
|
|
|
NM_003072.5(SMARCA4):c.3554A>G (p.Gln1185Arg)
|
rs2075056831
|
|
|
NM_003072.5(SMARCA4):c.355G>C (p.Gly119Arg)
|
rs1555752203
|
|
|
NM_003072.5(SMARCA4):c.356-3C>T
|
rs1599948631
|
|
|
NM_003072.5(SMARCA4):c.3560A>C (p.Gln1187Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)
|
rs1599948657
|
|
|
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val)
|
rs1555784468
|
|
|
NM_003072.5(SMARCA4):c.3599G>A (p.Arg1200His)
|
rs749001381
|
|
|
NM_003072.5(SMARCA4):c.35C>A (p.Pro12His)
|
|
|
|
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe)
|
rs1555784504
|
|
|
NM_003072.5(SMARCA4):c.3614G>A (p.Cys1205Tyr)
|
rs112043656
|
|
|
NM_003072.5(SMARCA4):c.3619G>A (p.Val1207Ile)
|
rs201974258
|
|
|
NM_003072.5(SMARCA4):c.361C>T (p.Pro121Ser)
|
rs1599948709
|
|
|
NM_003072.5(SMARCA4):c.3623A>G (p.Asn1208Ser)
|
rs2146650410
|
|
|
NM_003072.5(SMARCA4):c.362C>T (p.Pro121Leu)
|
rs2086015204
|
|
|
NM_003072.5(SMARCA4):c.3647C>T (p.Ala1216Val)
|
rs1600389938
|
|
|
NM_003072.5(SMARCA4):c.364T>C (p.Ser122Pro)
|
rs2086015550
|
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
|
NM_003072.5(SMARCA4):c.3679A>G (p.Lys1227Glu)
|
rs1568509876
|
|
|
NM_003072.5(SMARCA4):c.367C>A (p.Pro123Thr)
|
rs1568421595
|
|
|
NM_003072.5(SMARCA4):c.368C>A (p.Pro123His)
|
rs2145771332
|
|
|
NM_003072.5(SMARCA4):c.3703G>A (p.Asp1235Asn)
|
rs759192892
|
|
|
NM_003072.5(SMARCA4):c.370C>G (p.Leu124Val)
|
rs2145771417
|
|
|
NM_003072.5(SMARCA4):c.3718A>G (p.Ser1240Gly)
|
rs2075065054
|
|
|
NM_003072.5(SMARCA4):c.3721C>A (p.His1241Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
|
NM_003072.5(SMARCA4):c.3733G>A (p.Ala1245Thr)
|
rs1600390635
|
|
|
NM_003072.5(SMARCA4):c.374G>A (p.Gly125Asp)
|
rs757566936
|
|
|
NM_003072.5(SMARCA4):c.3760G>A (p.Glu1254Lys)
|
rs2146655256
|
|
|
NM_003072.5(SMARCA4):c.3768_3774+7dup
|
rs2146655619
|
|
|
NM_003072.5(SMARCA4):c.3769G>A (p.Asp1257Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.3769G>C (p.Asp1257His)
|
rs878854214
|
|
|
NM_003072.5(SMARCA4):c.376G>A (p.Gly126Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.376G>C (p.Gly126Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.376G>T (p.Gly126Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.3771T>A (p.Asp1257Glu)
|
rs2146655723
|
|
|
NM_003072.5(SMARCA4):c.3774+1_3774+5dup
|
|
|
|
NM_003072.5(SMARCA4):c.3774+3G>C
|
rs1600390925
|
|
|
NM_003072.5(SMARCA4):c.3774+4A>G
|
rs1600390948
|
|
|
NM_003072.5(SMARCA4):c.3774+4A>T
|
rs1600390948
|
|
|
NM_003072.5(SMARCA4):c.3775-10_3775-7del
|
rs1060502076
|
|
|
NM_003072.5(SMARCA4):c.3775-3C>A
|
rs376039891
|
|
|
NM_003072.5(SMARCA4):c.3775-3C>T
|
rs376039891
|
|
|
NM_003072.5(SMARCA4):c.3775-6C>T
|
rs2146664016
|
|
|
NM_003072.5(SMARCA4):c.3775-9T>G
|
rs2146663886
|
|
|
NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val)
|
rs2145771699
|
|
|
NM_003072.5(SMARCA4):c.3782A>G (p.His1261Arg)
|
rs2075086500
|
|
|
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.3787A>G (p.Ser1263Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3790A>G (p.Thr1264Ala)
|
rs2075086877
|
|
|
NM_003072.5(SMARCA4):c.3790A>T (p.Thr1264Ser)
|
rs2075086877
|
|
|
NM_003072.5(SMARCA4):c.3791C>A (p.Thr1264Lys)
|
rs377119410
|
|
|
NM_003072.5(SMARCA4):c.3794G>C (p.Gly1265Ala)
|
rs775157286
|
|
|
NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp)
|
rs1568416700
|
|
|
NM_003072.5(SMARCA4):c.3808A>G (p.Ser1270Gly)
|
rs1600393477
|
|
|
NM_003072.5(SMARCA4):c.3814G>T (p.Ala1272Ser)
|
rs776672640
|
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
|
NM_003072.5(SMARCA4):c.3820A>G (p.Thr1274Ala)
|
rs1600393687
|
|
|
NM_003072.5(SMARCA4):c.3823G>C (p.Ala1275Pro)
|
rs1600393728
|
|
|
NM_003072.5(SMARCA4):c.3826C>A (p.Pro1276Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.3827C>G (p.Pro1276Arg)
|
rs2075090923
|
|
|
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln)
|
rs746219091
|
|
|
NM_003072.5(SMARCA4):c.3833C>T (p.Pro1278Leu)
|
rs2075091471
|
|
|
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val)
|
rs1232715199
|
|
|
NM_003072.5(SMARCA4):c.3838G>A (p.Gly1280Ser)
|
rs2075091931
|
|
|
NM_003072.5(SMARCA4):c.3844A>G (p.Asn1282Asp)
|
rs2075092306
|
|
|
NM_003072.5(SMARCA4):c.3848C>T (p.Pro1283Leu)
|
rs2146667556
|
|
|
NM_003072.5(SMARCA4):c.3851A>G (p.Asp1284Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)
|
rs1600394125
|
|
|
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.3856G>C (p.Glu1286Gln)
|
rs2146667976
|
|
|
NM_003072.5(SMARCA4):c.3858G>C (p.Glu1286Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.3860A>T (p.Glu1287Val)
|
rs1568511022
|
|
|
NM_003072.5(SMARCA4):c.3865C>T (p.Pro1289Ser)
|
rs1356762692
|
|
|
NM_003072.5(SMARCA4):c.3866C>T (p.Pro1289Leu)
|
rs2146668438
|
|
|
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val)
|
rs1555784851
|
|
|
NM_003072.5(SMARCA4):c.3873+3G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3873+5G>A
|
rs1057522951
|
|
|
NM_003072.5(SMARCA4):c.3873+6A>C
|
|
|
|
NM_003072.5(SMARCA4):c.3873+6_3873+7del
|
rs2146668744
|
|
|
NM_003072.5(SMARCA4):c.3873+8G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3873G>T (p.Lys1291Asn)
|
rs2075094217
|
|
|
NM_003072.5(SMARCA4):c.3874-5T>C
|
rs1600397317
|
|
|
NM_003072.5(SMARCA4):c.3878A>G (p.Glu1293Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.388G>A (p.Ala130Thr)
|
rs779298300
|
|
|
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn)
|
rs747286271
|
|
|
NM_003072.5(SMARCA4):c.3898G>A (p.Glu1300Lys)
|
rs1555785006
|
|
|
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.3908A>G (p.Asn1303Ser)
|
rs2075118158
|
|
|
NM_003072.5(SMARCA4):c.3913A>G (p.Met1305Val)
|
rs1568512179
|
|
|
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val)
|
rs1060502080
|
|
|
NM_003072.5(SMARCA4):c.391T>C (p.Ser131Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.3926A>G (p.His1309Arg)
|
rs1158845896
|
|
|
NM_003072.5(SMARCA4):c.3927C>G (p.His1309Gln)
|
rs148495641
|
|
|
NM_003072.5(SMARCA4):c.3928G>A (p.Glu1310Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.3928G>C (p.Glu1310Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.3929A>T (p.Glu1310Val)
|
|
|
|
NM_003072.5(SMARCA4):c.392C>G (p.Ser131Cys)
|
rs1555752952
|
|
|
NM_003072.5(SMARCA4):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.3941A>T (p.Asp1314Val)
|
rs2075119766
|
|
|
NM_003072.5(SMARCA4):c.3943C>G (p.Leu1315Val)
|
rs1555785043
|
|
|
NM_003072.5(SMARCA4):c.3946T>C (p.Phe1316Leu)
|
rs2075120276
|
|
|
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)
|
rs1455103075
|
|
|
NM_003072.5(SMARCA4):c.3950T>C (p.Met1317Thr)
|
rs1555785051
|
|
|
NM_003072.5(SMARCA4):c.3951+3A>G
|
rs1600398046
|
|
|
NM_003072.5(SMARCA4):c.3951+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.3951G>A (p.Met1317Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>G
|
|
|
|
NM_003072.5(SMARCA4):c.3952-12C>T
|
|
|
|
NM_003072.5(SMARCA4):c.3952-17G>T
|
|
|
|
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His)
|
rs2075174391
|
|
|
NM_003072.5(SMARCA4):c.3955A>C (p.Met1319Leu)
|
rs2075174627
|
|
|
NM_003072.5(SMARCA4):c.3955A>G (p.Met1319Val)
|
rs2075174627
|
|
|
NM_003072.5(SMARCA4):c.3956T>C (p.Met1319Thr)
|
rs2075174760
|
|
|
NM_003072.5(SMARCA4):c.3957G>A (p.Met1319Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.395G>A (p.Ser132Asn)
|
rs1568421747
|
|
|
NM_003072.5(SMARCA4):c.3960C>A (p.Asp1320Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.3961C>A (p.Leu1321Met)
|
|
|
|
NM_003072.5(SMARCA4):c.3967C>T (p.Arg1323Cys)
|
rs867953095
|
|
|
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His)
|
rs61750054
|
|
|
NM_003072.5(SMARCA4):c.3969C>T (p.Arg1323=)
|
rs2075175651
|
|
|
NM_003072.5(SMARCA4):c.3974G>A (p.Arg1325His)
|
rs1600405478
|
|
|
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys)
|
rs1482864360
|
|
|
NM_003072.5(SMARCA4):c.3977A>T (p.Glu1326Val)
|
rs2146696740
|
|
|
NM_003072.5(SMARCA4):c.3978G>C (p.Glu1326Asp)
|
rs1060502090
|
|
|
NM_003072.5(SMARCA4):c.397C>T (p.Pro133Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.3980A>G (p.Glu1327Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.3981G>T (p.Glu1327Asp)
|
rs878854218
|
|
|
NM_003072.5(SMARCA4):c.3985C>G (p.Arg1329Gly)
|
rs878854219
|
|
|
NM_003072.5(SMARCA4):c.3985C>T (p.Arg1329Cys)
|
rs878854219
|
|
|
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)
|
rs1555785361
|
|
|
NM_003072.5(SMARCA4):c.398C>T (p.Pro133Leu)
|
rs2145772612
|
|
|
NM_003072.5(SMARCA4):c.3991C>G (p.Pro1331Ala)
|
rs1555785363
|
|
|
NM_003072.5(SMARCA4):c.3992C>T (p.Pro1331Leu)
|
rs1568514190
|
|
|
NM_003072.5(SMARCA4):c.3995A>G (p.Lys1332Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.3997C>T (p.Arg1333Trp)
|
rs1403269611
|
|
|
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)
|
rs2145720045
|
|
|
NM_003072.5(SMARCA4):c.4001A>C (p.Lys1334Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4001A>G (p.Lys1334Arg)
|
rs2075177811
|
|
|
NM_003072.5(SMARCA4):c.4002G>C (p.Lys1334Asn)
|
rs2146697899
|
|
|
NM_003072.5(SMARCA4):c.4007G>A (p.Arg1336His)
|
|
|
|
NM_003072.5(SMARCA4):c.4012A>C (p.Met1338Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4012A>G (p.Met1338Val)
|
rs1555785383
|
|
|
NM_003072.5(SMARCA4):c.4014G>A (p.Met1338Ile)
|
rs1462986718
|
|
|
NM_003072.5(SMARCA4):c.4022A>G (p.Asp1341Gly)
|
rs1600406074
|
|
|
NM_003072.5(SMARCA4):c.4027C>T (p.Leu1343Phe)
|
rs1394867973
|
|
|
NM_003072.5(SMARCA4):c.4033T>G (p.Ser1345Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4034C>T (p.Ser1345Leu)
|
rs746533073
|
|
|
NM_003072.5(SMARCA4):c.4038G>T (p.Trp1346Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.403C>T (p.Pro135Ser)
|
rs150949949
|
|
|
NM_003072.5(SMARCA4):c.4043T>G (p.Ile1348Ser)
|
rs2146699503
|
|
|
NM_003072.5(SMARCA4):c.404C>T (p.Pro135Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val)
|
rs1568514549
|
|
|
NM_003072.5(SMARCA4):c.4066C>T (p.Arg1356Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.4067G>T (p.Arg1356Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.406G>T (p.Ala136Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4076G>A (p.Cys1359Tyr)
|
rs2075182244
|
|
|
NM_003072.5(SMARCA4):c.4076G>C (p.Cys1359Ser)
|
rs2075182244
|
|
|
NM_003072.5(SMARCA4):c.4078GAG[4] (p.Glu1364del)
|
rs148514235
|
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
|
NM_003072.5(SMARCA4):c.4087G>A (p.Glu1363Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4090G>C (p.Glu1364Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4091A>C (p.Glu1364Ala)
|
rs2075182920
|
|
|
NM_003072.5(SMARCA4):c.4091AGA[1] (p.Lys1365del)
|
rs1600406755
|
|
|
NM_003072.5(SMARCA4):c.4099T>C (p.Phe1367Leu)
|
rs2146701825
|
|
|
NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr)
|
rs754291337
|
|
|
NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu)
|
rs2145721177
|
|
|
NM_003072.5(SMARCA4):c.4101C>G (p.Phe1367Leu)
|
rs772075876
|
|
|
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser)
|
rs1060502101
|
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
|
NM_003072.5(SMARCA4):c.4108G>A (p.Gly1370Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4112C>T (p.Ser1371Phe)
|
rs1555785467
|
|
|
NM_003072.5(SMARCA4):c.4120C>T (p.Arg1374Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His)
|
rs1060502070
|
|
|
NM_003072.5(SMARCA4):c.4127A>C (p.Glu1376Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.413G>A (p.Gly138Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4141G>A (p.Asp1381Asn)
|
rs2075186524
|
|
|
NM_003072.5(SMARCA4):c.4148_4159del (p.Leu1383_Lys1386del)
|
|
|
|
NM_003072.5(SMARCA4):c.414C>T (p.Gly138=)
|
rs1568421853
|
|
|
NM_003072.5(SMARCA4):c.4155G>C (p.Glu1385Asp)
|
rs1600407349
|
|
|
NM_003072.5(SMARCA4):c.4170+4C>T
|
rs1600407451
|
|
|
NM_003072.5(SMARCA4):c.4170+5A>T
|
|
|
|
NM_003072.5(SMARCA4):c.4170+6T>C
|
rs1060502065
|
|
|
NM_003072.5(SMARCA4):c.4171-1749G>T
|
rs1000417349
|
|
|
NM_003072.5(SMARCA4):c.4171-1751G>T
|
rs1555787264
|
|
|
NM_003072.5(SMARCA4):c.4171-1768A>T
|
rs2075457834
|
|
|
NM_003072.5(SMARCA4):c.4171-1770G>C
|
rs772645133
|
|
|
NM_003072.5(SMARCA4):c.4171-1770G>T
|
rs772645133
|
|
|
NM_003072.5(SMARCA4):c.4171-1774T>A
|
rs1600446408
|
|
|
NM_003072.5(SMARCA4):c.4171-1782G>T
|
rs2075456219
|
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
|
NM_003072.5(SMARCA4):c.4171-1790C>A
|
rs1481819938
|
|
|
NM_003072.5(SMARCA4):c.4171-1791T>A
|
rs1391604700
|
|
|
NM_003072.5(SMARCA4):c.4171-1807G>T
|
rs2075452756
|
|
|
NM_003072.5(SMARCA4):c.4171-1821C>G
|
rs1600445482
|
|
|
NM_003072.5(SMARCA4):c.4171-1842C>T
|
rs2075449703
|
|
|
NM_003072.5(SMARCA4):c.4171-1860T>G
|
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4171-3A>G
|
rs2146812535
|
|
|
NM_003072.5(SMARCA4):c.4174A>G (p.Ile1392Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)
|
rs752264295
|
|
|
NM_003072.5(SMARCA4):c.4180G>A (p.Glu1394Lys)
|
rs1238368623
|
|
|
NM_003072.5(SMARCA4):c.4189C>A (p.Leu1397Met)
|
|
|
|
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)
|
rs1022140074
|
|
|
NM_003072.5(SMARCA4):c.4192GAG[1] (p.Glu1399del)
|
|
|
|
NM_003072.5(SMARCA4):c.4194G>C (p.Glu1398Asp)
|
rs1555788088
|
|
|
NM_003072.5(SMARCA4):c.4197G>T (p.Glu1399Asp)
|
rs2075597503
|
|
|
NM_003072.5(SMARCA4):c.419C>A (p.Ser140Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.419C>G (p.Ser140Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)
|
rs577059244
|
|
|
NM_003072.5(SMARCA4):c.4200_4201delinsAC (p.Glu1401Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys)
|
rs756924224
|
|
|
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4207G>A (p.Glu1403Lys)
|
rs878854223
|
|
|
NM_003072.5(SMARCA4):c.4209G>C (p.Glu1403Asp)
|
rs2075598271
|
|
|
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe)
|
rs1555788108
|
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
|
NM_003072.5(SMARCA4):c.4217A>G (p.Gln1406Arg)
|
rs2075599157
|
|
|
NM_003072.5(SMARCA4):c.4225T>A (p.Ser1409Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4225TCA[1] (p.Ser1410del)
|
rs1600466492
|
|
|
NM_003072.5(SMARCA4):c.4228T>A (p.Ser1410Thr)
|
rs1282651436
|
|
|
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
|
rs755455174
|
|
|
NM_003072.5(SMARCA4):c.4237C>G (p.Arg1413Gly)
|
rs558017726
|
|
|
NM_003072.5(SMARCA4):c.4238G>A (p.Arg1413His)
|
|
|
|
NM_003072.5(SMARCA4):c.4238G>C (p.Arg1413Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4246G>A (p.Asp1416Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4246G>C (p.Asp1416His)
|
rs1600466835
|
|
|
NM_003072.5(SMARCA4):c.4250G>A (p.Ser1417Asn)
|
rs1158882017
|
|
|
NM_003072.5(SMARCA4):c.4251C>A (p.Ser1417Arg)
|
rs377057304
|
|
|
NM_003072.5(SMARCA4):c.4252G>T (p.Asp1418Tyr)
|
rs761083981
|
|
|
NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)
|
rs370380553
|
|
|
NM_003072.5(SMARCA4):c.4256C>T (p.Ala1419Val)
|
rs1413620647
|
|
|
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)
|
rs772153816
|
|
|
NM_003072.5(SMARCA4):c.4259G>C (p.Gly1420Ala)
|
rs1555788169
|
|
|
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.4265C>T (p.Ser1422Phe)
|
rs2146816731
|
|
|
NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala)
|
rs1258849439
|
|
|
NM_003072.5(SMARCA4):c.4267A>T (p.Thr1423Ser)
|
rs1258849439
|
|
|
NM_003072.5(SMARCA4):c.4270C>G (p.Pro1424Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4271C>A (p.Pro1424Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4271C>G (p.Pro1424Arg)
|
rs760654888
|
|
|
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile)
|
rs1340211412
|
|
|
NM_003072.5(SMARCA4):c.4274CCA[1] (p.Thr1426del)
|
|
|
|
NM_003072.5(SMARCA4):c.4276A>G (p.Thr1426Ala)
|
rs1555788214
|
|
|
NM_003072.5(SMARCA4):c.4279_4284dup (p.Ser1427_Thr1428dup)
|
rs2146817173
|
|
|
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)
|
rs891010465
|
|
|
NM_003072.5(SMARCA4):c.4280G>A (p.Ser1427Asn)
|
rs1600467547
|
|
|
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys)
|
rs1060502069
|
|
|
NM_003072.5(SMARCA4):c.4288A>G (p.Ser1430Gly)
|
rs1227801413
|
|
|
NM_003072.5(SMARCA4):c.4288_4290del (p.Ser1430del)
|
|
|
|
NM_003072.5(SMARCA4):c.4289G>A (p.Ser1430Asn)
|
rs2075604964
|
|
|
NM_003072.5(SMARCA4):c.428C>A (p.Pro143His)
|
|
|
|
NM_003072.5(SMARCA4):c.428C>T (p.Pro143Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4290C>A (p.Ser1430Arg)
|
rs879796805
|
|
|
NM_003072.5(SMARCA4):c.4291C>G (p.Arg1431Gly)
|
rs587778681
|
|
|
NM_003072.5(SMARCA4):c.4294G>T (p.Asp1432Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.4295A>G (p.Asp1432Gly)
|
rs1555788260
|
|
|
NM_003072.5(SMARCA4):c.4299G>T (p.Lys1433Asn)
|
rs1600467954
|
|
|
NM_003072.5(SMARCA4):c.4300G>A (p.Asp1434Asn)
|
rs756599243
|
|
|
NM_003072.5(SMARCA4):c.4301A>G (p.Asp1434Gly)
|
rs777893871
|
|
|
NM_003072.5(SMARCA4):c.4302C>A (p.Asp1434Glu)
|
rs146747026
|
|
|
NM_003072.5(SMARCA4):c.4302CGA[1] (p.Asp1435del)
|
rs2075606466
|
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
|
NM_003072.5(SMARCA4):c.4305C>G (p.Asp1435Glu)
|
rs771071300
|
|
|
NM_003072.5(SMARCA4):c.4310G>C (p.Ser1437Thr)
|
rs1402031100
|
|
|
NM_003072.5(SMARCA4):c.4310G>T (p.Ser1437Ile)
|
rs1402031100
|
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
|
NM_003072.5(SMARCA4):c.4315A>C (p.Lys1439Gln)
|
rs2146819016
|
|
|
NM_003072.5(SMARCA4):c.4316A>G (p.Lys1439Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4322A>G (p.Lys1441Arg)
|
rs1555788304
|
|
|
NM_003072.5(SMARCA4):c.4324A>C (p.Lys1442Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.432G>T (p.Gln144His)
|
|
|
|
NM_003072.5(SMARCA4):c.4330G>A (p.Gly1444Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4331G>C (p.Gly1444Ala)
|
rs2075609046
|
|
|
NM_003072.5(SMARCA4):c.4333C>T (p.Arg1445Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.4334G>A (p.Arg1445Gln)
|
rs1060502068
|
|
|
NM_003072.5(SMARCA4):c.4336C>T (p.Pro1446Ser)
|
rs1555788318
|
|
|
NM_003072.5(SMARCA4):c.4337C>T (p.Pro1446Leu)
|
rs760763271
|
|
|
NM_003072.5(SMARCA4):c.433A>G (p.Met145Val)
|
rs1599949433
|
|
|
NM_003072.5(SMARCA4):c.433A>T (p.Met145Leu)
|
rs1599949433
|
|
|
NM_003072.5(SMARCA4):c.4340C>T (p.Pro1447Leu)
|
rs2146820178
|
|
|
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr)
|
rs761338885
|
|
|
NM_003072.5(SMARCA4):c.4342G>C (p.Ala1448Pro)
|
rs761338885
|
|
|
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys)
|
rs1568528491
|
|
|
NM_003072.5(SMARCA4):c.4346A>G (p.Glu1449Gly)
|
rs1060502058
|
|
|
NM_003072.5(SMARCA4):c.4348A>G (p.Lys1450Glu)
|
rs2146820574
|
|
|
NM_003072.5(SMARCA4):c.4351C>G (p.Leu1451Val)
|
rs1568528504
|
|
|
NM_003072.5(SMARCA4):c.4352T>C (p.Leu1451Pro)
|
rs2075610848
|
|
|
NM_003072.5(SMARCA4):c.4355C>T (p.Ser1452Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.435G>A (p.Met145Ile)
|
rs766377662
|
|
|
NM_003072.5(SMARCA4):c.4366C>T (p.Pro1456Ser)
|
rs2146821386
|
|
|
NM_003072.5(SMARCA4):c.4367C>A (p.Pro1456His)
|
|
|
|
NM_003072.5(SMARCA4):c.4367C>G (p.Pro1456Arg)
|
rs2075611320
|
|
|
NM_003072.5(SMARCA4):c.4372C>G (p.Leu1458Val)
|
rs1600469027
|
|
|
NM_003072.5(SMARCA4):c.4372C>T (p.Leu1458Phe)
|
rs1600469027
|
|
|
NM_003072.5(SMARCA4):c.4376C>G (p.Thr1459Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
|
NM_003072.5(SMARCA4):c.4378A>G (p.Lys1460Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4379A>G (p.Lys1460Arg)
|
rs2075611830
|
|
|
NM_003072.5(SMARCA4):c.4380G>C (p.Lys1460Asn)
|
rs2146822019
|
|
|
NM_003072.5(SMARCA4):c.4381A>C (p.Lys1461Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4382A>T (p.Lys1461Met)
|
rs1600469070
|
|
|
NM_003072.5(SMARCA4):c.4388AGA[1] (p.Lys1464del)
|
|
|
|
NM_003072.5(SMARCA4):c.4389G>T (p.Lys1463Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg)
|
rs1555788352
|
|
|
NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn)
|
rs1600469159
|
|
|
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr)
|
rs1377505488
|
|
|
NM_003072.5(SMARCA4):c.43G>A (p.Gly15Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4401T>A (p.Asp1467Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser)
|
rs1600469287
|
|
|
NM_003072.5(SMARCA4):c.4406T>G (p.Val1469Gly)
|
rs2075613392
|
|
|
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu)
|
rs878854227
|
|
|
NM_003072.5(SMARCA4):c.4420G>A (p.Asp1474Asn)
|
rs1555788376
|
|
|
NM_003072.5(SMARCA4):c.4424+4A>G
|
rs2146823944
|
|
|
NM_003072.5(SMARCA4):c.4424+5G>A
|
rs756617788
|
|
|
NM_003072.5(SMARCA4):c.4425-1G>A
|
rs766881255
|
|
|
NM_003072.5(SMARCA4):c.4425-3C>G
|
rs748738510
|
|
|
NM_003072.5(SMARCA4):c.4425-3C>T
|
|
|
|
NM_003072.5(SMARCA4):c.4426A>T (p.Ser1476Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.4427G>A (p.Ser1476Asn)
|
rs2076659111
|
|
|
NM_003072.5(SMARCA4):c.4430G>A (p.Ser1477Asn)
|
rs770592452
|
|
|
NM_003072.5(SMARCA4):c.4430G>C (p.Ser1477Thr)
|
rs770592452
|
|
|
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)
|
rs2093999657
|
|
|
NM_003072.5(SMARCA4):c.4435C>T (p.Arg1479Cys)
|
rs1458830964
|
|
|
NM_003072.5(SMARCA4):c.443G>C (p.Gly148Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4441C>G (p.Leu1481Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4444A>G (p.Ser1482Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4445G>T (p.Ser1482Ile)
|
rs2076660347
|
|
|
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp)
|
rs776843815
|
|
|
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)
|
rs1600629958
|
|
|
NM_003072.5(SMARCA4):c.4451T>C (p.Val1484Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4461G>T (p.Gln1487His)
|
|
|
|
NM_003072.5(SMARCA4):c.4465C>G (p.Pro1489Ala)
|
rs2147086024
|
|
|
NM_003072.5(SMARCA4):c.4466C>G (p.Pro1489Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4468_4485del (p.Ser1490_Pro1495del)
|
rs2076661206
|
|
|
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)
|
rs1329240441
|
|
|
NM_003072.5(SMARCA4):c.4472G>A (p.Arg1491Gln)
|
rs1388483526
|
|
|
NM_003072.5(SMARCA4):c.4474A>C (p.Lys1492Gln)
|
rs1060502075
|
|
|
NM_003072.5(SMARCA4):c.4475A>G (p.Lys1492Arg)
|
rs1188183781
|
|
|
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala)
|
rs1568560821
|
|
|
NM_003072.5(SMARCA4):c.4479G>T (p.Glu1493Asp)
|
rs1568560832
|
|
|
NM_003072.5(SMARCA4):c.4483C>T (p.Pro1495Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4484C>T (p.Pro1495Leu)
|
rs2147086899
|
|
|
NM_003072.5(SMARCA4):c.448G>A (p.Gly150Arg)
|
rs1555753081
|
|
|
NM_003072.5(SMARCA4):c.4495G>A (p.Glu1499Lys)
|
rs1555795053
|
|
|
NM_003072.5(SMARCA4):c.4496A>C (p.Glu1499Ala)
|
rs1555795056
|
|
|
NM_003072.5(SMARCA4):c.449G>A (p.Gly150Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala)
|
rs1060502077
|
|
|
NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val)
|
rs1060502077
|
|
|
NM_003072.5(SMARCA4):c.4504C>T (p.Arg1502Cys)
|
rs1181505860
|
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
|
NM_003072.5(SMARCA4):c.4507A>G (p.Lys1503Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4509G>T (p.Lys1503Asn)
|
rs1600630618
|
|
|
NM_003072.5(SMARCA4):c.4519T>G (p.Phe1507Val)
|
|
|
|
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)
|
rs962808170
|
|
|
NM_003072.5(SMARCA4):c.4521C>G (p.Phe1507Leu)
|
rs2147088411
|
|
|
NM_003072.5(SMARCA4):c.4523A>G (p.Lys1508Arg)
|
rs1400097305
|
|
|
NM_003072.5(SMARCA4):c.4524G>C (p.Lys1508Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4524G>T (p.Lys1508Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.452G>T (p.Gly151Val)
|
rs755746907
|
|
|
NM_003072.5(SMARCA4):c.4532A>G (p.Lys1511Arg)
|
rs2076664922
|
|
|
NM_003072.5(SMARCA4):c.4533+5C>G
|
|
|
|
NM_003072.5(SMARCA4):c.4533+6C>G
|
rs1311909722
|
|
|
NM_003072.5(SMARCA4):c.4534-9C>G
|
rs1271762916
|
|
|
NM_003072.5(SMARCA4):c.4537C>T (p.Arg1513Cys)
|
rs985886104
|
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
|
NM_003072.5(SMARCA4):c.4543C>T (p.Arg1515Cys)
|
rs1166347946
|
|
|
NM_003072.5(SMARCA4):c.4544G>A (p.Arg1515His)
|
rs1555795341
|
|
|
NM_003072.5(SMARCA4):c.4544G>T (p.Arg1515Leu)
|
rs1555795341
|
|
|
NM_003072.5(SMARCA4):c.454G>T (p.Ala152Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4553A>G (p.Lys1518Arg)
|
rs2147097206
|
|
|
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys)
|
rs1057523119
|
|
|
NM_003072.5(SMARCA4):c.4559G>A (p.Arg1520His)
|
rs1600635365
|
|
|
NM_003072.5(SMARCA4):c.4561A>G (p.Ser1521Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4568A>G (p.Asn1523Ser)
|
rs1555795360
|
|
|
NM_003072.5(SMARCA4):c.4569C>A (p.Asn1523Lys)
|
rs34389675
|
|
|
NM_003072.5(SMARCA4):c.4569C>G (p.Asn1523Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)
|
rs2076693372
|
|
|
NM_003072.5(SMARCA4):c.4573C>A (p.Leu1525Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.4576G>C (p.Glu1526Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4577A>G (p.Glu1526Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.4578G>C (p.Glu1526Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4588A>G (p.Met1530Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4589T>A (p.Met1530Lys)
|
rs1600635680
|
|
|
NM_003072.5(SMARCA4):c.4589T>C (p.Met1530Thr)
|
rs1600635680
|
|
|
NM_003072.5(SMARCA4):c.458C>A (p.Pro153Gln)
|
rs539710314
|
|
|
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)
|
rs1555795386
|
|
|
NM_003072.5(SMARCA4):c.4591C>A (p.Leu1531Ile)
|
rs1555795394
|
|
|
NM_003072.5(SMARCA4):c.4598G>A (p.Cys1533Tyr)
|
rs2147098389
|
|
|
NM_003072.5(SMARCA4):c.4602G>C (p.Gln1534His)
|
rs757889804
|
|
|
NM_003072.5(SMARCA4):c.4606G>A (p.Ala1536Thr)
|
rs2147098587
|
|
|
NM_003072.5(SMARCA4):c.4607C>T (p.Ala1536Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4613C>T (p.Thr1538Ile)
|
rs2076695584
|
|
|
NM_003072.5(SMARCA4):c.461T>C (p.Leu154Pro)
|
rs1236457430
|
|
|
NM_003072.5(SMARCA4):c.4624G>A (p.Glu1542Lys)
|
rs1057523176
|
|
|
NM_003072.5(SMARCA4):c.4635+3G>A
|
rs1568562563
|
|
|
NM_003072.5(SMARCA4):c.4635+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4635+6G>C
|
rs1164626701
|
|
|
NM_003072.5(SMARCA4):c.4635G>A (p.Leu1545=)
|
rs2147099255
|
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
|
NM_003072.5(SMARCA4):c.4636-13T>C
|
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>A
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>T
|
rs1555795859
|
|
|
NM_003072.5(SMARCA4):c.4640A>G (p.Tyr1547Cys)
|
rs1600643435
|
|
|
NM_003072.5(SMARCA4):c.4646A>C (p.Asp1549Ala)
|
rs2147113068
|
|
|
NM_003072.5(SMARCA4):c.4647C>G (p.Asp1549Glu)
|
rs1260006751
|
|
|
NM_003072.5(SMARCA4):c.4649C>T (p.Ser1550Phe)
|
rs1555795874
|
|
|
NM_003072.5(SMARCA4):c.4651A>T (p.Ile1551Phe)
|
rs2076750711
|
|
|
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile)
|
rs1555795880
|
|
|
NM_003072.5(SMARCA4):c.4655T>A (p.Val1552Asp)
|
rs2147113284
|
|
|
NM_003072.5(SMARCA4):c.4655T>C (p.Val1552Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4660C>G (p.Gln1554Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4662G>T (p.Gln1554His)
|
|
|
|
NM_003072.5(SMARCA4):c.4663T>A (p.Ser1555Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4663T>G (p.Ser1555Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4664C>G (p.Ser1555Trp)
|
rs1057523990
|
|
|
NM_003072.5(SMARCA4):c.466G>A (p.Gly156Ser)
|
rs954975906
|
|
|
NM_003072.5(SMARCA4):c.466G>T (p.Gly156Cys)
|
rs954975906
|
|
|
NM_003072.5(SMARCA4):c.4672A>G (p.Thr1558Ala)
|
rs1060502083
|
|
|
NM_003072.5(SMARCA4):c.4673_4675del (p.Thr1558del)
|
rs2076751615
|
|
|
NM_003072.5(SMARCA4):c.4676G>A (p.Ser1559Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4678G>C (p.Val1560Leu)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
|
NM_003072.5(SMARCA4):c.4679T>A (p.Val1560Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)
|
rs1555753146
|
|
|
NM_003072.5(SMARCA4):c.467G>T (p.Gly156Val)
|
rs1555753146
|
|
|
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)
|
rs1600643911
|
|
|
NM_003072.5(SMARCA4):c.4692C>G (p.Ile1564Met)
|
|
|
|
NM_003072.5(SMARCA4):c.4693G>A (p.Glu1565Lys)
|
rs1568564514
|
|
|
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del)
|
rs1375203306
|
|
|
NM_003072.5(SMARCA4):c.4697A>T (p.Lys1566Met)
|
rs2076752907
|
|
|
NM_003072.5(SMARCA4):c.4698GGA[1] (p.Glu1567del)
|
rs1555795933
|
|
|
NM_003072.5(SMARCA4):c.469G>A (p.Ala157Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly)
|
rs1310082332
|
|
|
NM_003072.5(SMARCA4):c.4700A>T (p.Glu1567Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4702G>A (p.Asp1568Asn)
|
rs1060502099
|
|
|
NM_003072.5(SMARCA4):c.4704_4718del (p.Asp1568_Gly1572del)
|
rs1568564616
|
|
|
NM_003072.5(SMARCA4):c.4706A>G (p.Asp1569Gly)
|
rs2147114941
|
|
|
NM_003072.5(SMARCA4):c.4706A>T (p.Asp1569Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4709G>A (p.Ser1570Asn)
|
rs966588548
|
|
|
NM_003072.5(SMARCA4):c.4709G>T (p.Ser1570Ile)
|
rs966588548
|
|
|
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)
|
rs2145775018
|
|
|
NM_003072.5(SMARCA4):c.4713A>T (p.Glu1571Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4714G>A (p.Gly1572Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4715G>A (p.Gly1572Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4715G>T (p.Gly1572Val)
|
|
|
|
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
|
NM_003072.5(SMARCA4):c.4725T>A (p.Ser1575Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4728GGA[2] (p.Glu1580del)
|
rs1555795992
|
|
|
NM_003072.5(SMARCA4):c.4729G>A (p.Glu1577Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4732G>A (p.Glu1578Lys)
|
rs1555795999
|
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
|
NM_003072.5(SMARCA4):c.4734_4751del (p.Glu1579_Glu1584del)
|
|
|
|
NM_003072.5(SMARCA4):c.4735G>A (p.Glu1579Lys)
|
rs1568564823
|
|
|
NM_003072.5(SMARCA4):c.4739_4753del (p.Glu1580_Glu1584del)
|
rs2147115638
|
|
|
NM_003072.5(SMARCA4):c.4741G>A (p.Gly1581Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.4741G>T (p.Gly1581Cys)
|
rs1600644688
|
|
|
NM_003072.5(SMARCA4):c.4742G>A (p.Gly1581Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)
|
rs2055163263
|
|
|
NM_003072.5(SMARCA4):c.4749G>C (p.Glu1583Asp)
|
rs1205508248
|
|
|
NM_003072.5(SMARCA4):c.474C>A (p.Asp158Glu)
|
rs1599950027
|
|
|
NM_003072.5(SMARCA4):c.4753G>A (p.Gly1585Ser)
|
rs2076756606
|
|
|
NM_003072.5(SMARCA4):c.4754G>C (p.Gly1585Ala)
|
rs148115492
|
|
|
NM_003072.5(SMARCA4):c.4757C>G (p.Ser1586Cys)
|
rs773055372
|
|
|
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys)
|
rs1568564931
|
|
|
NM_003072.5(SMARCA4):c.475C>T (p.Pro159Ser)
|
rs2145775190
|
|
|
NM_003072.5(SMARCA4):c.4765G>A (p.Glu1589Lys)
|
rs141826721
|
|
|
NM_003072.5(SMARCA4):c.4765G>C (p.Glu1589Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.4768+15_4768+16delinsCA
|
|
|
|
NM_003072.5(SMARCA4):c.4768+3G>A
|
rs2076757838
|
|
|
NM_003072.5(SMARCA4):c.4768+5G>A
|
|
|
|
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro)
|
rs1555796035
|
|
|
NM_003072.5(SMARCA4):c.4769-76_4769-11del
|
|
|
|
NM_003072.5(SMARCA4):c.4769-9C>G
|
rs1457763107
|
|
|
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)
|
rs2076772762
|
|
|
NM_003072.5(SMARCA4):c.476C>G (p.Pro159Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4772G>C (p.Arg1591Pro)
|
rs1356932636
|
|
|
NM_003072.5(SMARCA4):c.4777G>T (p.Val1593Phe)
|
|
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
|
NM_003072.5(SMARCA4):c.4784T>G (p.Val1595Gly)
|
rs1600647899
|
|
|
NM_003072.5(SMARCA4):c.4789A>G (p.Ile1597Val)
|
rs2076773708
|
|
|
NM_003072.5(SMARCA4):c.478C>A (p.Gln160Lys)
|
rs2145775329
|
|
|
NM_003072.5(SMARCA4):c.4790T>A (p.Ile1597Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4792A>C (p.Lys1598Gln)
|
rs2076773793
|
|
|
NM_003072.5(SMARCA4):c.4795C>A (p.Leu1599Ile)
|
rs1060502091
|
|
|
NM_003072.5(SMARCA4):c.4795C>T (p.Leu1599Phe)
|
rs1060502091
|
|
|
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg)
|
rs1600648042
|
|
|
NM_003072.5(SMARCA4):c.479A>G (p.Gln160Arg)
|
rs2145775356
|
|
|
NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.4805A>C (p.Lys1602Thr)
|
rs1485676007
|
|
|
NM_003072.5(SMARCA4):c.4807_4809del (p.Glu1603del)
|
rs1600648184
|
|
|
NM_003072.5(SMARCA4):c.4811A>G (p.Lys1604Arg)
|
rs2076775574
|
|
|
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro)
|
rs141224876
|
|
|
NM_003072.5(SMARCA4):c.4814C>T (p.Ala1605Val)
|
rs2076775823
|
|
|
NM_003072.5(SMARCA4):c.4817A>C (p.Gln1606Pro)
|
rs878854231
|
|
|
NM_003072.5(SMARCA4):c.481G>T (p.Ala161Ser)
|
rs1295034696
|
|
|
NM_003072.5(SMARCA4):c.4821C>G (p.Asp1607Glu)
|
rs2076776364
|
|
|
NM_003072.5(SMARCA4):c.4822dup (p.Arg1608fs)
|
rs2076776472
|
|
|
NM_003072.5(SMARCA4):c.4825C>A (p.Leu1609Met)
|
rs878854232
|
|
|
NM_003072.5(SMARCA4):c.4828A>G (p.Lys1610Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr)
|
rs1555796263
|
|
|
NM_003072.5(SMARCA4):c.4831G>A (p.Gly1611Ser)
|
rs2076777557
|
|
|
NM_003072.5(SMARCA4):c.4834G>T (p.Gly1612Cys)
|
rs372319442
|
|
|
NM_003072.5(SMARCA4):c.4838G>A (p.Arg1613Gln)
|
rs1568565957
|
|
|
NM_003072.5(SMARCA4):c.4838GGC[2] (p.Arg1615del)
|
rs1311890122
|
|
|
NM_003072.5(SMARCA4):c.4839_4848del (p.Arg1614fs)
|
|
|
|
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp)
|
rs1568565971
|
|
|
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln)
|
rs878854233
|
|
|
NM_003072.5(SMARCA4):c.4846C>T (p.Pro1616Ser)
|
rs2147125383
|
|
|
NM_003072.5(SMARCA4):c.4847C>A (p.Pro1616Gln)
|
rs878854234
|
|
|
NM_003072.5(SMARCA4):c.4847C>G (p.Pro1616Arg)
|
rs878854234
|
|
|
NM_003072.5(SMARCA4):c.4850G>T (p.Ser1617Ile)
|
rs1600648852
|
|
|
NM_003072.5(SMARCA4):c.4851C>A (p.Ser1617Arg)
|
rs1568566076
|
|
|
NM_003072.5(SMARCA4):c.4852C>T (p.Arg1618Ter)
|
rs1306144699
|
|
|
NM_003072.5(SMARCA4):c.4853G>C (p.Arg1618Pro)
|
rs1029465394
|
|
|
NM_003072.5(SMARCA4):c.4853G>T (p.Arg1618Leu)
|
rs1029465394
|
|
|
NM_003072.5(SMARCA4):c.4859C>T (p.Ser1620Phe)
|
rs1600649021
|
|
|
NM_003072.5(SMARCA4):c.485T>C (p.Leu162Ser)
|
rs2086028307
|
|
|
NM_003072.5(SMARCA4):c.4861C>G (p.Arg1621Gly)
|
rs955207258
|
|
|
NM_003072.5(SMARCA4):c.4861C>T (p.Arg1621Ter)
|
rs955207258
|
|
|
NM_003072.5(SMARCA4):c.4862G>T (p.Arg1621Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4865C>A (p.Ala1622Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.4867A>T (p.Lys1623Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)
|
rs1600649183
|
|
|
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser)
|
rs1555796335
|
|
|
NM_003072.5(SMARCA4):c.4871C>A (p.Pro1624Gln)
|
rs756255060
|
|
|
NM_003072.5(SMARCA4):c.4871C>G (p.Pro1624Arg)
|
rs756255060
|
|
|
NM_003072.5(SMARCA4):c.4873G>T (p.Val1625Phe)
|
rs1600649293
|
|
|
NM_003072.5(SMARCA4):c.4875C>G (p.Val1625=)
|
|
|
|
NM_003072.5(SMARCA4):c.4876G>C (p.Val1626Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.4877T>C (p.Val1626Ala)
|
rs2076781393
|
|
|
NM_003072.5(SMARCA4):c.4880G>A (p.Ser1627Asn)
|
rs2076781506
|
|
|
NM_003072.5(SMARCA4):c.4887_4888delinsCT (p.Asp1630Tyr)
|
|
|
|
NM_003072.5(SMARCA4):c.4887_4888inv (p.Asp1630Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4887_4889del (p.Asp1630del)
|
rs2147126620
|
|
|
NM_003072.5(SMARCA4):c.4888G>C (p.Asp1630His)
|
|
|
|
NM_003072.5(SMARCA4):c.4889A>G (p.Asp1630Gly)
|
rs2147126711
|
|
|
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu)
|
rs918621161
|
|
|
NM_003072.5(SMARCA4):c.4890C>G (p.Asp1630Glu)
|
rs918621161
|
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
|
NM_003072.5(SMARCA4):c.4894G>A (p.Glu1632Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4897G>A (p.Glu1633Lys)
|
rs2076782634
|
|
|
NM_003072.5(SMARCA4):c.4900G>T (p.Glu1634Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4901A>C (p.Glu1634Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)
|
rs2147127066
|
|
|
NM_003072.5(SMARCA4):c.4903C>T (p.Gln1635Ter)
|
rs2147127094
|
|
|
NM_003072.5(SMARCA4):c.4904_4905del (p.Gln1635fs)
|
rs2147127143
|
|
|
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His)
|
rs908806258
|
|
|
NM_003072.5(SMARCA4):c.4906G>A (p.Glu1636Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu)
|
rs1600649855
|
|
|
NM_003072.5(SMARCA4):c.490C>G (p.Gln164Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
|
NM_003072.5(SMARCA4):c.4911+3G>A
|
rs2076783963
|
|
|
NM_003072.5(SMARCA4):c.4911+6G>T
|
rs878854235
|
|
|
NM_003072.5(SMARCA4):c.4911G>A (p.Glu1637=)
|
rs2147127404
|
|
|
NM_003072.5(SMARCA4):c.4912-2A>G
|
rs2147157781
|
|
|
NM_003072.5(SMARCA4):c.4912G>A (p.Asp1638Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.4916G>T (p.Arg1639Leu)
|
rs867536416
|
|
|
NM_003072.5(SMARCA4):c.4918T>A (p.Ser1640Thr)
|
rs1568570437
|
|
|
NM_003072.5(SMARCA4):c.4918T>C (p.Ser1640Pro)
|
rs1568570437
|
|
|
NM_003072.5(SMARCA4):c.4919C>G (p.Ser1640Ter)
|
|
|
|
NM_003072.5(SMARCA4):c.4919C>T (p.Ser1640Leu)
|
rs1345181111
|
|
|
NM_003072.5(SMARCA4):c.4921G>C (p.Gly1641Arg)
|
rs1188692885
|
|
|
NM_003072.5(SMARCA4):c.4922G>A (p.Gly1641Glu)
|
rs1555797457
|
|
|
NM_003072.5(SMARCA4):c.4924A>G (p.Ser1642Gly)
|
rs2147158155
|
|
|
NM_003072.5(SMARCA4):c.4927G>A (p.Gly1643Ser)
|
rs2076917822
|
|
|
NM_003072.5(SMARCA4):c.492G>T (p.Gln164His)
|
rs1555753201
|
|
|
NM_003072.5(SMARCA4):c.4933G>A (p.Glu1645Lys)
|
rs1261182514
|
|
|
NM_003072.5(SMARCA4):c.4935AGA[1] (p.Glu1646del)
|
rs2076918196
|
|
|
NM_003072.5(SMARCA4):c.4936G>A (p.Glu1646Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.4939G>T (p.Asp1647Tyr)
|
rs2076918536
|
|
|
NM_003072.5(SMARCA4):c.4942T>C (p.Ter1648Arg)
|
rs2076918636
|
|
|
NM_003072.5(SMARCA4):c.4944A>G (p.Ter1648Trp)
|
rs772894995
|
|
|
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys)
|
rs772894995
|
|
|
NM_003072.5(SMARCA4):c.496A>G (p.Asn166Asp)
|
|
|
|
NM_003072.5(SMARCA4):c.502G>A (p.Gly168Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.503G>A (p.Gly168Asp)
|
rs1171738627
|
|
|
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.508A>C (p.Thr170Pro)
|
rs773273784
|
|
|
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.509C>T (p.Thr170Ile)
|
rs762871878
|
|
|
NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)
|
rs2085806321
|
|
|
NM_003072.5(SMARCA4):c.511C>A (p.Pro171Thr)
|
rs1599950466
|
|
|
NM_003072.5(SMARCA4):c.511C>T (p.Pro171Ser)
|
rs1599950466
|
|
|
NM_003072.5(SMARCA4):c.526C>G (p.Gln176Glu)
|
rs2086031789
|
|
|
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)
|
rs1555753296
|
|
|
NM_003072.5(SMARCA4):c.532C>T (p.His178Tyr)
|
rs2145777525
|
|
|
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln)
|
rs759429379
|
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
|
NM_003072.5(SMARCA4):c.544G>A (p.Ala182Thr)
|
rs1599950706
|
|
|
NM_003072.5(SMARCA4):c.544G>T (p.Ala182Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.54_71del (p.14PGPSPG[1])
|
|
|
|
NM_003072.5(SMARCA4):c.553A>G (p.Met185Val)
|
rs1568422504
|
|
|
NM_003072.5(SMARCA4):c.557C>T (p.Ala186Val)
|
rs942370486
|
|
|
NM_003072.5(SMARCA4):c.563A>G (p.Lys188Arg)
|
rs2086034556
|
|
|
NM_003072.5(SMARCA4):c.565A>T (p.Met189Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.566T>A (p.Met189Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala)
|
rs1222542093
|
|
|
NM_003072.5(SMARCA4):c.571G>A (p.Ala191Thr)
|
rs759257627
|
|
|
NM_003072.5(SMARCA4):c.571G>T (p.Ala191Ser)
|
rs759257627
|
|
|
NM_003072.5(SMARCA4):c.574A>T (p.Arg192Trp)
|
rs2086035121
|
|
|
NM_003072.5(SMARCA4):c.575G>A (p.Arg192Lys)
|
rs1599950890
|
|
|
NM_003072.5(SMARCA4):c.577G>A (p.Gly193Arg)
|
rs1568422547
|
|
|
NM_003072.5(SMARCA4):c.578G>T (p.Gly193Val)
|
rs767036812
|
|
|
NM_003072.5(SMARCA4):c.580C>A (p.Gln194Lys)
|
rs1599950960
|
|
|
NM_003072.5(SMARCA4):c.581A>G (p.Gln194Arg)
|
rs760076866
|
|
|
NM_003072.5(SMARCA4):c.583C>G (p.Pro195Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.586C>T (p.Leu196Phe)
|
rs1199851876
|
|
|
NM_003072.5(SMARCA4):c.589C>A (p.Pro197Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.590C>T (p.Pro197Leu)
|
rs988231473
|
|
|
NM_003072.5(SMARCA4):c.592G>A (p.Asp198Asn)
|
rs1195533596
|
|
|
NM_003072.5(SMARCA4):c.593A>G (p.Asp198Gly)
|
rs2086038072
|
|
|
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)
|
rs1599951271
|
|
|
NM_003072.5(SMARCA4):c.606G>A (p.Met202Ile)
|
rs2086039435
|
|
|
NM_003072.5(SMARCA4):c.607G>A (p.Ala203Thr)
|
rs2086039624
|
|
|
NM_003072.5(SMARCA4):c.610G>A (p.Val204Met)
|
rs1599951334
|
|
|
NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.614A>G (p.Gln205Arg)
|
rs2086040527
|
|
|
NM_003072.5(SMARCA4):c.626C>G (p.Pro209Arg)
|
rs778071122
|
|
|
NM_003072.5(SMARCA4):c.628A>C (p.Met210Leu)
|
rs2086042007
|
|
|
NM_003072.5(SMARCA4):c.628A>T (p.Met210Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.629T>A (p.Met210Lys)
|
rs749404527
|
|
|
NM_003072.5(SMARCA4):c.630G>A (p.Met210Ile)
|
rs1043452739
|
|
|
NM_003072.5(SMARCA4):c.630G>C (p.Met210Ile)
|
rs1043452739
|
|
|
NM_003072.5(SMARCA4):c.631C>G (p.Pro211Ala)
|
rs2145781120
|
|
|
NM_003072.5(SMARCA4):c.631C>T (p.Pro211Ser)
|
rs2145781120
|
|
|
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg)
|
rs886937766
|
|
|
NM_003072.5(SMARCA4):c.637A>G (p.Met213Val)
|
rs2145781361
|
|
|
NM_003072.5(SMARCA4):c.639G>A (p.Met213Ile)
|
|
|
|
NM_003072.5(SMARCA4):c.640CAG[2] (p.Gln216del)
|
rs2086043699
|
|
|
NM_003072.5(SMARCA4):c.648G>T (p.Gln216His)
|
|
|
|
NM_003072.5(SMARCA4):c.649A>G (p.Met217Val)
|
rs2145781758
|
|
|
NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser)
|
rs2085807805
|
|
|
NM_003072.5(SMARCA4):c.652C>G (p.Pro218Ala)
|
rs1220576417
|
|
|
NM_003072.5(SMARCA4):c.652C>T (p.Pro218Ser)
|
rs1220576417
|
|
|
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)
|
rs1057422480
|
|
|
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)
|
rs1227659334
|
|
|
NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg)
|
rs1227659334
|
|
|
NM_003072.5(SMARCA4):c.661C>T (p.Pro221Ser)
|
rs1417452362
|
|
|
NM_003072.5(SMARCA4):c.662C>A (p.Pro221His)
|
rs1599952032
|
|
|
NM_003072.5(SMARCA4):c.662C>T (p.Pro221Leu)
|
rs1599952032
|
|
|
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.668C>T (p.Pro223Leu)
|
rs2145782523
|
|
|
NM_003072.5(SMARCA4):c.674T>C (p.Val225Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.677C>G (p.Ser226Cys)
|
|
|
|
NM_003072.5(SMARCA4):c.678C>A (p.Ser226=)
|
rs878854237
|
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
|
NM_003072.5(SMARCA4):c.680C>T (p.Ala227Val)
|
rs1599952268
|
|
|
NM_003072.5(SMARCA4):c.683C>A (p.Thr228Lys)
|
rs2145783138
|
|
|
NM_003072.5(SMARCA4):c.684_707dup (p.229GP[12])
|
rs754049390
|
|
|
NM_003072.5(SMARCA4):c.684_731dup (p.Pro244_Ala245insGlyProGlyProGlyProGlyProGlyProGlyProGlyProGlyPro)
|
|
|
|
NM_003072.5(SMARCA4):c.686G>C (p.Gly229Ala)
|
rs2086048500
|
|
|
NM_003072.5(SMARCA4):c.688C>A (p.Pro230Thr)
|
rs760294422
|
|
|
NM_003072.5(SMARCA4):c.688C>T (p.Pro230Ser)
|
rs760294422
|
|
|
NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe)
|
rs1555750712
|
|
|
NM_003072.5(SMARCA4):c.691G>T (p.Gly231Cys)
|
rs555467836
|
|
|
NM_003072.5(SMARCA4):c.692G>T (p.Gly231Val)
|
|
|
|
NM_003072.5(SMARCA4):c.692_693insGCCTGG (p.229GP[9])
|
rs2145783521
|
|
|
NM_003072.5(SMARCA4):c.694_695insTTGGCC (p.Gly231_Pro232insLeuGly)
|
rs1555753619
|
|
|
NM_003072.5(SMARCA4):c.695C>G (p.Pro232Arg)
|
rs1314009255
|
|
|
NM_003072.5(SMARCA4):c.695_696insGGGCCC (p.229GP[9])
|
rs1555753627
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[2] (p.229GP[7])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.696_719del (p.229GP[4])
|
rs1568423251
|
|
|
NM_003072.5(SMARCA4):c.696_719dup (p.229_230GP[12])
|
rs1568423251
|
|
|
NM_003072.5(SMARCA4):c.696_731del (p.229GP[2])
|
rs1599952392
|
|
|
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp)
|
rs878854238
|
|
|
NM_003072.5(SMARCA4):c.698G>C (p.Gly233Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.698_699insACCTGG (p.229GP[9])
|
rs2086051201
|
|
|
NM_003072.5(SMARCA4):c.699_722del (p.229GP[4])
|
rs1599952661
|
|
|
NM_003072.5(SMARCA4):c.701C>G (p.Pro234Arg)
|
rs572494136
|
|
|
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)
|
rs572494136
|
|
|
NM_003072.5(SMARCA4):c.702_719dup (p.229GP[11])
|
rs2086051828
|
|
|
NM_003072.5(SMARCA4):c.702_725del (p.229GP[4])
|
|
|
|
NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)
|
rs1240479086
|
|
|
NM_003072.5(SMARCA4):c.705_707dup (p.Pro236dup)
|
rs2086054549
|
|
|
NM_003072.5(SMARCA4):c.707C>T (p.Pro236Leu)
|
rs1555753713
|
|
|
NM_003072.5(SMARCA4):c.708_719del (p.229GP[6])
|
rs1555753680
|
|
|
NM_003072.5(SMARCA4):c.708_719dup (p.229GP[10])
|
rs1555753680
|
|
|
NM_003072.5(SMARCA4):c.708_731del (p.229_230GP[4])
|
rs1555753690
|
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
|
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser)
|
rs1555753727
|
|
|
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala)
|
rs1060502057
|
|
|
NM_003072.5(SMARCA4):c.70C>T (p.Pro24Ser)
|
rs1060502057
|
|
|
NM_003072.5(SMARCA4):c.713_714inv (p.Pro238Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.714_719del (p.229GP[7])
|
rs1555753732
|
|
|
NM_003072.5(SMARCA4):c.714_719dup (p.229GP[9])
|
rs1555753732
|
|
|
NM_003072.5(SMARCA4):c.714_731dup (p.229GP[11])
|
rs1568423542
|
|
|
NM_003072.5(SMARCA4):c.715G>T (p.Gly239Cys)
|
rs761515593
|
|
|
NM_003072.5(SMARCA4):c.716G>T (p.Gly239Val)
|
rs1161508952
|
|
|
NM_003072.5(SMARCA4):c.719_720insTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC (p.229GP[13])
|
rs2086056046
|
|
|
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)
|
rs772230026
|
|
|
NM_003072.5(SMARCA4):c.721G>A (p.Gly241Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.721G>T (p.Gly241Cys)
|
rs1599953263
|
|
|
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])
|
rs568390760
|
|
|
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser)
|
rs1555753773
|
|
|
NM_003072.5(SMARCA4):c.725C>T (p.Pro242Leu)
|
rs2145785202
|
|
|
NM_003072.5(SMARCA4):c.726_731dup (p.229_230GP[9])
|
rs2086059171
|
|
|
NM_003072.5(SMARCA4):c.730C>T (p.Pro244Ser)
|
rs2145785383
|
|
|
NM_003072.5(SMARCA4):c.731C>G (p.Pro244Arg)
|
rs587778683
|
|
|
NM_003072.5(SMARCA4):c.733G>A (p.Ala245Thr)
|
rs2086060359
|
|
|
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
|
|
|
|
NM_003072.5(SMARCA4):c.736C>A (p.Pro246Thr)
|
rs1555753804
|
|
|
NM_003072.5(SMARCA4):c.736C>T (p.Pro246Ser)
|
rs1555753804
|
|
|
NM_003072.5(SMARCA4):c.737_738insCGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACC (p.Pro246_Pro247insGlyProGlyProGlyProGlyProGlyProGlyProAlaPro)
|
|
|
|
NM_003072.5(SMARCA4):c.739C>T (p.Pro247Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.73G>A (p.Gly25Arg)
|
rs1568416887
|
|
|
NM_003072.5(SMARCA4):c.742A>G (p.Asn248Asp)
|
rs1599953506
|
|
|
NM_003072.5(SMARCA4):c.743A>G (p.Asn248Ser)
|
rs1568423807
|
|
|
NM_003072.5(SMARCA4):c.749G>A (p.Ser250Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.74_76del (p.Gly25del)
|
rs1568416902
|
|
|
NM_003072.5(SMARCA4):c.750C>T (p.Ser250=)
|
rs1242616857
|
|
|
NM_003072.5(SMARCA4):c.752G>C (p.Arg251Thr)
|
rs1599953658
|
|
|
NM_003072.5(SMARCA4):c.753G>T (p.Arg251Ser)
|
rs2145786174
|
|
|
NM_003072.5(SMARCA4):c.758A>G (p.His253Arg)
|
rs2086063382
|
|
|
NM_003072.5(SMARCA4):c.760+4A>G
|
rs1213865421
|
|
|
NM_003072.5(SMARCA4):c.760G>A (p.Gly254Ser)
|
rs1060502071
|
|
|
NM_003072.5(SMARCA4):c.761-3T>C
|
|
|
|
NM_003072.5(SMARCA4):c.761-3T>G
|
rs1555754119
|
|
|
NM_003072.5(SMARCA4):c.761G>T (p.Gly254Val)
|
|
|
|
NM_003072.5(SMARCA4):c.765G>A (p.Met255Ile)
|
rs2145795052
|
|
|
NM_003072.5(SMARCA4):c.767G>A (p.Gly256Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.770G>A (p.Gly257Glu)
|
rs1343719999
|
|
|
NM_003072.5(SMARCA4):c.770G>T (p.Gly257Val)
|
|
|
|
NM_003072.5(SMARCA4):c.775A>C (p.Asn259His)
|
rs764641221
|
|
|
NM_003072.5(SMARCA4):c.778A>G (p.Met260Val)
|
rs1064795842
|
|
|
NM_003072.5(SMARCA4):c.77C>T (p.Ala26Val)
|
rs1599928845
|
|
|
NM_003072.5(SMARCA4):c.780G>A (p.Met260Ile)
|
rs753962571
|
|
|
NM_003072.5(SMARCA4):c.782C>A (p.Pro261His)
|
rs757327891
|
|
|
NM_003072.5(SMARCA4):c.782C>T (p.Pro261Leu)
|
rs757327891
|
|
|
NM_003072.5(SMARCA4):c.790G>A (p.Gly264Arg)
|
rs746036083
|
|
|
NM_003072.5(SMARCA4):c.791G>A (p.Gly264Glu)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.792_812dup (p.Gly271_Met272insProSerGlyValProProGly)
|
|
|
|
NM_003072.5(SMARCA4):c.793C>T (p.Pro265Ser)
|
rs2145796084
|
|
|
NM_003072.5(SMARCA4):c.794C>A (p.Pro265His)
|
|
|
|
NM_003072.5(SMARCA4):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.797C>G (p.Ser266Trp)
|
|
|
|
NM_003072.5(SMARCA4):c.799G>A (p.Gly267Ser)
|
rs2086105423
|
|
|
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)
|
rs1599927930
|
|
|
NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)
|
rs746986969
|
|
|
NM_003072.5(SMARCA4):c.800G>T (p.Gly267Val)
|
|
|
|
NM_003072.5(SMARCA4):c.803T>C (p.Val268Ala)
|
rs1568424854
|
|
|
NM_003072.5(SMARCA4):c.803T>G (p.Val268Gly)
|
rs1568424854
|
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
|
NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu)
|
rs2145796622
|
|
|
NM_003072.5(SMARCA4):c.808C>G (p.Pro270Ala)
|
rs1599957743
|
|
|
NM_003072.5(SMARCA4):c.808C>T (p.Pro270Ser)
|
rs1599957743
|
|
|
NM_003072.5(SMARCA4):c.809C>G (p.Pro270Arg)
|
rs1568424897
|
|
|
NM_003072.5(SMARCA4):c.809C>T (p.Pro270Leu)
|
rs1568424897
|
|
|
NM_003072.5(SMARCA4):c.80T>C (p.Met27Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>A (p.Gly271Glu)
|
|
|
|
NM_003072.5(SMARCA4):c.812G>C (p.Gly271Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.814A>G (p.Met272Val)
|
rs1432832082
|
|
|
NM_003072.5(SMARCA4):c.820G>C (p.Gly274Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.826C>A (p.Pro276Thr)
|
rs1238171014
|
|
|
NM_003072.5(SMARCA4):c.826C>T (p.Pro276Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.827C>T (p.Pro276Leu)
|
rs2145797391
|
|
|
NM_003072.5(SMARCA4):c.82C>A (p.Leu28Met)
|
rs776688705
|
|
|
NM_003072.5(SMARCA4):c.830C>T (p.Pro277Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.836G>T (p.Gly279Val)
|
|
|
|
NM_003072.5(SMARCA4):c.838C>G (p.Pro280Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.83_94del (p.Leu28_Ser31del)
|
rs2145722640
|
|
|
NM_003072.5(SMARCA4):c.841C>T (p.Pro281Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.842C>T (p.Pro281Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.846G>T (p.Lys282Asn)
|
rs1263337559
|
|
|
NM_003072.5(SMARCA4):c.848C>T (p.Pro283Leu)
|
rs1568425141
|
|
|
NM_003072.5(SMARCA4):c.853C>T (p.Pro285Ser)
|
rs763957291
|
|
|
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.856G>A (p.Glu286Lys)
|
|
|
|
NM_003072.5(SMARCA4):c.858A>G (p.Glu286=)
|
|
|
|
NM_003072.5(SMARCA4):c.858A>T (p.Glu286Asp)
|
rs2145798320
|
|
|
NM_003072.5(SMARCA4):c.859+3G>A
|
rs1599958336
|
|
|
NM_003072.5(SMARCA4):c.859+5G>C
|
|
|
|
NM_003072.5(SMARCA4):c.859+6C>T
|
rs1185878570
|
|
|
NM_003072.5(SMARCA4):c.859G>C (p.Gly287Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.860-20G>A
|
|
|
|
NM_003072.5(SMARCA4):c.860-3C>T
|
rs1158136597
|
|
|
NM_003072.5(SMARCA4):c.860-4C>G
|
|
|
|
NM_003072.5(SMARCA4):c.860G>A (p.Gly287Glu)
|
rs2086175577
|
|
|
NM_003072.5(SMARCA4):c.862C>G (p.Pro288Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
|
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)
|
rs1026742588
|
|
|
NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu)
|
rs750547893
|
|
|
NM_003072.5(SMARCA4):c.866T>C (p.Met289Thr)
|
rs878854243
|
|
|
NM_003072.5(SMARCA4):c.866T>G (p.Met289Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.867G>T (p.Met289Ile)
|
rs1338574365
|
|
|
NM_003072.5(SMARCA4):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.86G>A (p.Gly29Asp)
|
rs2145722799
|
|
|
NM_003072.5(SMARCA4):c.86G>T (p.Gly29Val)
|
|
|
|
NM_003072.5(SMARCA4):c.871A>G (p.Asn291Asp)
|
rs1555754777
|
|
|
NM_003072.5(SMARCA4):c.872A>G (p.Asn291Ser)
|
rs751791309
|
|
|
NM_003072.5(SMARCA4):c.874G>A (p.Ala292Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.875C>G (p.Ala292Gly)
|
|
|
|
NM_003072.5(SMARCA4):c.877G>A (p.Ala293Thr)
|
rs754742854
|
|
|
NM_003072.5(SMARCA4):c.880G>T (p.Ala294Ser)
|
rs1599966074
|
|
|
NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val)
|
|
|
|
NM_003072.5(SMARCA4):c.883C>G (p.Pro295Ala)
|
rs970190031
|
|
|
NM_003072.5(SMARCA4):c.884C>T (p.Pro295Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser)
|
rs1599928968
|
|
|
NM_003072.5(SMARCA4):c.891C>A (p.Ser297Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.892A>G (p.Thr298Ala)
|
rs878854244
|
|
|
NM_003072.5(SMARCA4):c.892A>T (p.Thr298Ser)
|
rs878854244
|
|
|
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)
|
rs748459210
|
|
|
NM_003072.5(SMARCA4):c.895C>T (p.Pro299Ser)
|
rs2086180113
|
|
|
NM_003072.5(SMARCA4):c.896C>A (p.Pro299His)
|
|
|
|
NM_003072.5(SMARCA4):c.896C>T (p.Pro299Leu)
|
rs770464856
|
|
|
NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn)
|
|
|
|
NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile)
|
rs1339941779
|
|
|
NM_003072.5(SMARCA4):c.904C>A (p.Leu302Met)
|
|
|
|
NM_003072.5(SMARCA4):c.907A>G (p.Ile303Val)
|
|
|
|
NM_003072.5(SMARCA4):c.910C>A (p.Pro304Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.910C>G (p.Pro304Ala)
|
rs745462998
|
|
|
NM_003072.5(SMARCA4):c.910C>T (p.Pro304Ser)
|
|
|
|
NM_003072.5(SMARCA4):c.911C>A (p.Pro304His)
|
rs2086181376
|
|
|
NM_003072.5(SMARCA4):c.914C>G (p.Pro305Arg)
|
rs138097741
|
|
|
NM_003072.5(SMARCA4):c.915_916delinsCA (p.Gln306Lys)
|
rs1568426539
|
|
|
NM_003072.5(SMARCA4):c.918G>C (p.Gln306His)
|
|
|
|
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)
|
rs762139955
|
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
|
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys)
|
rs1555754899
|
|
|
NM_003072.5(SMARCA4):c.929G>C (p.Arg310Pro)
|
rs766422429
|
|
|
NM_003072.5(SMARCA4):c.931C>T (p.Pro311Ser)
|
rs1323531288
|
|
|
NM_003072.5(SMARCA4):c.935C>A (p.Ser312Tyr)
|
rs767826277
|
|
|
NM_003072.5(SMARCA4):c.937C>G (p.Pro313Ala)
|
|
|
|
NM_003072.5(SMARCA4):c.938C>T (p.Pro313Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.940G>C (p.Ala314Pro)
|
|
|
|
NM_003072.5(SMARCA4):c.940_941delinsTT (p.Ala314Leu)
|
rs2145816680
|
|
|
NM_003072.5(SMARCA4):c.944C>A (p.Pro315His)
|
|
|
|
NM_003072.5(SMARCA4):c.944C>T (p.Pro315Leu)
|
rs1170997392
|
|
|
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)
|
rs1599968129
|
|
|
NM_003072.5(SMARCA4):c.949G>A (p.Ala317Thr)
|
|
|
|
NM_003072.5(SMARCA4):c.950_951delinsTT (p.Ala317Val)
|
|
|
|
NM_003072.5(SMARCA4):c.951C>A (p.Ala317=)
|
rs377511733
|
|
|
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser)
|
rs1555755005
|
|
|
NM_003072.5(SMARCA4):c.959C>T (p.Pro320Leu)
|
rs1060502062
|
|
|
NM_003072.5(SMARCA4):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_003072.5(SMARCA4):c.960_961delinsAA (p.Ala321Thr)
|
rs2145817552
|
|
|
NM_003072.5(SMARCA4):c.962_973dup (p.Pro324_Val325insAlaAlaSerPro)
|
|
|
|
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)
|
rs371214843
|
|
|
NM_003072.5(SMARCA4):c.964G>A (p.Ala322Thr)
|
rs1060502089
|
|
|
NM_003072.5(SMARCA4):c.964G>T (p.Ala322Ser)
|
rs1060502089
|
|
|
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)
|
rs886054151
|
|
|
NM_003072.5(SMARCA4):c.970C>T (p.Pro324Ser)
|
rs926054421
|
|
|
NM_003072.5(SMARCA4):c.973G>C (p.Val325Leu)
|
|
|
|
NM_003072.5(SMARCA4):c.976A>G (p.Met326Val)
|
|
|
|
NM_003072.5(SMARCA4):c.976A>T (p.Met326Leu)
|
rs1599968988
|
|
|
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)
|
rs1568426962
|
|
|
NM_003072.5(SMARCA4):c.978G>C (p.Met326Ile)
|
rs1568426962
|
|
|
NM_003072.5(SMARCA4):c.980C>T (p.Pro327Leu)
|
rs1236526844
|
|
|
NM_003072.5(SMARCA4):c.983C>A (p.Pro328Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.987G>C (p.Gln329His)
|
|
|
|
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile)
|
rs1555755082
|
|
|
NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.995C>T (p.Ser332Phe)
|
rs1013942482
|
|
|
NM_003072.5(SMARCA4):c.997C>T (p.Pro333Ser)
|
rs1599969686
|
|
|
NM_003073.4(SMARCB1):c.-207-?_*338dup1703
|
|
|
|
NM_003073.4(SMARCB1):c.987-?_*338dup510
|
|
|
|
NM_003073.5(SMARCB1):c.*100C>G
|
rs1363655817
|
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
|
NM_003073.5(SMARCB1):c.*197A>C
|
rs1306414841
|
|
|
NM_003073.5(SMARCB1):c.*307A>G
|
rs2030874248
|
|
|
NM_003073.5(SMARCB1):c.-107A>G
|
rs886057284
|
|
|
NM_003073.5(SMARCB1):c.-157G>A
|
rs886057281
|
|
|
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)
|
rs1231539032
|
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
|
NM_003073.5(SMARCB1):c.1118+8T>C
|
rs2030796889
|
|
|
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)
|
rs769579890
|
|
|
NM_003073.5(SMARCB1):c.232+59A>G
|
|
|
|
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
|
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
|
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)
|
rs780906523
|
|
|
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
|
NM_003073.5(SMARCB1):c.795+5G>A
|
rs199902957
|
|
|
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)
|
rs762676176
|
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
|
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
|
|
|
|
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
|
|
|
|
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
|
|
|
|
NM_003235.5(TG):c.3886T>A (p.Phe1296Ile)
|
rs193920926
|
|
|
NM_003238.6(TGFB2):c.510+148T>G
|
|
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
|
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
|
NM_003325.4(HIRA):c.820G>A (p.Val274Met)
|
rs193920856
|
|
|
NM_003367.4(USF2):c.497G>A (p.Arg166Gln)
|
rs193920819
|
|
|
NM_003369.4(UVRAG):c.500A>G (p.Glu167Gly)
|
rs864622029
|
|
|
NM_003437.5(ZNF136):c.883T>G (p.Leu295Val)
|
rs193921014
|
|
|
NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu)
|
rs193920886
|
|
|
NM_003488.4(AKAP1):c.946GGCTTGGATAGAAATGAGGAG[1] (p.316GLDRNEE[1])
|
rs746089021
|
|
|
NM_003502.4(AXIN1):c.1118G>A (p.Arg373His)
|
|
|
|
NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)
|
|
|
|
NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile)
|
|
|
|
NM_003579.4(RAD54L):c.1559C>T (p.Ser520Leu)
|
|
|
|
NM_003579.4(RAD54L):c.1769T>C (p.Met590Thr)
|
|
|
|
NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro)
|
|
|
|
NM_003579.4(RAD54L):c.2209C>T (p.Gln737Ter)
|
|
|
|
NM_003579.4(RAD54L):c.863del (p.Gly288fs)
|
rs1660118680
|
|
|
NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys)
|
rs2031565605
|
|
|
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln)
|
rs193920974
|
|
|
NM_003716.4(CADPS):c.484G>A (p.Ala162Thr)
|
rs193921128
|
|
|
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
|
|
|
|
NM_003902.5(FUBP1):c.1611G>A (p.Trp537Ter)
|
rs869025239
|
|
|
NM_003981.3(PRC1):c.1351-124_1351-123insoAC068831.17:g.63209_63266
|
|
|
|
NM_004054.4(C3AR1):c.1148T>C (p.Val383Ala)
|
rs193921139
|
|
|
NM_004132.5(HABP2):c.1590C>T (p.Gly530=)
|
rs2133792767
|
|
|
NM_004136.4(IREB2):c.1023+1037G>A
|
|
|
|
NM_004136.4(IREB2):c.1024-1244T>A
|
|
|
|
NM_004138.4(KRT33A):c.215A>G (p.Glu72Gly)
|
rs193921001
|
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
|
NM_004168.4(SDHA):c.1065-19T>A
|
|
|
|
NM_004168.4(SDHA):c.1065-8C>G
|
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
|
NM_004168.4(SDHA):c.745G>A (p.Ala249Thr)
|
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
|
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu)
|
rs193920813
|
|
|
NM_004304.5(ALK):c.2205-116G>A
|
|
|
|
NM_004304.5(ALK):c.3451-35TCC[3]
|
rs775243091
|
|
|
NM_004304.5(ALK):c.3744-53del
|
rs1669420011
|
|
|
NM_004304.5(ALK):c.4165-19del
|
rs1668958808
|
|
|
NM_004317.4(GET3):c.224C>G (p.Pro75Arg)
|
rs864622036
|
|
|
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs)
|
rs372013175
|
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
|
NM_004333.6(BRAF):c.1205C>A (p.Pro402His)
|
rs199927105
|
|
|
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)
|
rs2129153151
|
|
|
NM_004333.6(BRAF):c.1315-15A>T
|
|
|
|
NM_004333.6(BRAF):c.1315-35T>A
|
|
|
|
NM_004333.6(BRAF):c.1321C>T (p.Leu441Phe)
|
|
|
|
NM_004333.6(BRAF):c.1323T>G (p.Leu441=)
|
|
|
|
NM_004333.6(BRAF):c.1326T>G (p.Gly442=)
|
|
|
|
NM_004333.6(BRAF):c.1333G>T (p.Asp445Tyr)
|
|
|
|
NM_004333.6(BRAF):c.1335C>T (p.Asp445=)
|
|
|
|
NM_004333.6(BRAF):c.1337C>A (p.Ser446Ter)
|
|
|
|
NM_004333.6(BRAF):c.1338G>T (p.Ser446=)
|
|
|
|
NM_004333.6(BRAF):c.1339A>T (p.Ser447Cys)
|
|
|
|
NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs)
|
|
|
|
NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs)
|
|
|
|
NM_004333.6(BRAF):c.1351dup (p.Glu451fs)
|
|
|
|
NM_004333.6(BRAF):c.1353_1354insC (p.Ile452fs)
|
|
|
|
NM_004333.6(BRAF):c.1358C>T (p.Pro453Leu)
|
|
|
|
NM_004333.6(BRAF):c.1365del (p.Gln456fs)
|
|
|
|
NM_004333.6(BRAF):c.1367A>T (p.Gln456Leu)
|
|
|
|
NM_004333.6(BRAF):c.1368dup (p.Ile457fs)
|
|
|
|
NM_004333.6(BRAF):c.1371del (p.Thr458fs)
|
|
|
|
NM_004333.6(BRAF):c.1372A>C (p.Thr458Pro)
|
|
|
|
NM_004333.6(BRAF):c.1373del (p.Thr458fs)
|
|
|
|
NM_004333.6(BRAF):c.1375_1376insC (p.Val459fs)
|
|
|
|
NM_004333.6(BRAF):c.1375dup (p.Val459fs)
|
|
|
|
NM_004333.6(BRAF):c.1376T>G (p.Val459Gly)
|
|
|
|
NM_004333.6(BRAF):c.1377_1378insT (p.Gly460fs)
|
|
|
|
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)
|
|
|
|
NM_004333.6(BRAF):c.1379del (p.Gly460fs)
|
|
|
|
NM_004333.6(BRAF):c.1388T>C (p.Ile463Thr)
|
|
|
|
NM_004333.6(BRAF):c.1389T>C (p.Ile463=)
|
|
|
|
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)
|
rs121913349
|
|
|
NM_004333.6(BRAF):c.1395del (p.Gly466fs)
|
|
|
|
NM_004333.6(BRAF):c.1404T>G (p.Phe468Leu)
|
|
|
|
NM_004333.6(BRAF):c.1404_1405del (p.Phe468fs)
|
|
|
|
NM_004333.6(BRAF):c.1408A>G (p.Thr470Ala)
|
|
|
|
NM_004333.6(BRAF):c.1413C>T (p.Val471=)
|
|
|
|
NM_004333.6(BRAF):c.1415A>C (p.Tyr472Ser)
|
|
|
|
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys)
|
rs1057519719
|
|
|
NM_004333.6(BRAF):c.1416_1417insT (p.Lys473Ter)
|
|
|
|
NM_004333.6(BRAF):c.1426T>G (p.Trp476Gly)
|
|
|
|
NM_004333.6(BRAF):c.1428_1429insA (p.His477fs)
|
|
|
|
NM_004333.6(BRAF):c.1430A>C (p.His477Pro)
|
|
|
|
NM_004333.6(BRAF):c.1432+102C>A
|
|
|
|
NM_004333.6(BRAF):c.1432+114A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+120A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+128C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+136C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+141A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+142A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+144G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+157A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+15T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+176G>C
|
|
|
|
NM_004333.6(BRAF):c.1432+181C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+18del
|
|
|
|
NM_004333.6(BRAF):c.1432+201A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+20A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+22A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+230G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+234T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+237T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+246A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+276T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+282C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+296T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+296T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+298T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+304G>T
|
|
|
|
NM_004333.6(BRAF):c.1432+306A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+308T>A
|
|
|
|
NM_004333.6(BRAF):c.1432+33T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+34C>G
|
|
|
|
NM_004333.6(BRAF):c.1432+34C>T
|
|
|
|
NM_004333.6(BRAF):c.1432+35A>G
|
|
|
|
NM_004333.6(BRAF):c.1432+38A>C
|
|
|
|
NM_004333.6(BRAF):c.1432+3A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+41G>A
|
|
|
|
NM_004333.6(BRAF):c.1432+43A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+46T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+52A>T
|
|
|
|
NM_004333.6(BRAF):c.1432+65T>G
|
|
|
|
NM_004333.6(BRAF):c.1432+67T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+8T>C
|
|
|
|
NM_004333.6(BRAF):c.1432+95C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10145T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10150C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10155T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10157C>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10193A>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10204C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10229T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10233C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10273A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10278G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10286G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10293G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10295A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10306G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10335A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10342T>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10345G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10356G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10377G>A
|
|
|
|
NM_004333.6(BRAF):c.1695-10389T>C
|
|
|
|
NM_004333.6(BRAF):c.1695-10396G>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10408A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10455A>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10462T>G
|
|
|
|
NM_004333.6(BRAF):c.1695-10468C>T
|
|
|
|
NM_004333.6(BRAF):c.1695-10472del
|
|
|
|
NM_004333.6(BRAF):c.1742-10T>A
|
|
|
|
NM_004333.6(BRAF):c.1742-13T>G
|
|
|
|
NM_004333.6(BRAF):c.1742-15C>A
|
|
|
|
NM_004333.6(BRAF):c.1742-16del
|
|
|
|
NM_004333.6(BRAF):c.1742-1delinsTT
|
|
|
|
NM_004333.6(BRAF):c.1759G>A (p.Asp587Asn)
|
rs2128998452
|
|
|
NM_004333.6(BRAF):c.1768dup (p.Val590fs)
|
|
|
|
NM_004333.6(BRAF):c.1769_1770insTTAGA (p.Val590_Lys591insTer)
|
|
|
|
NM_004333.6(BRAF):c.1771A>G (p.Lys591Glu)
|
|
|
|
NM_004333.6(BRAF):c.1776A>T (p.Ile592=)
|
|
|
|
NM_004333.6(BRAF):c.1778_1779insATG (p.Gly593_Asp594insCys)
|
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
|
NM_004333.6(BRAF):c.1782_1783insATT (p.Asp594_Phe595insIle)
|
|
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
|
NM_004333.6(BRAF):c.1860+21del
|
|
|
|
NM_004333.6(BRAF):c.1860+38del
|
|
|
|
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)
|
rs746010267
|
|
|
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)
|
rs1562939198
|
|
|
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)
|
rs1033856250
|
|
|
NM_004336.5(BUB1):c.2374CTT[1] (p.Leu793del)
|
rs779946777
|
|
|
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
|
|
|
|
NM_004360.4(CDH1):c.-124-?_*2042+?dup4815
|
|
|
|
NM_004360.4(CDH1):c.164-?_*(1_?)dup
|
|
|
|
NM_004360.5(CDH1):c.*1591T>C
|
rs886052246
|
|
|
NM_004360.5(CDH1):c.*221del
|
rs145920869
|
|
|
NM_004360.5(CDH1):c.*221dup
|
rs145920869
|
|
|
NM_004360.5(CDH1):c.*236C>T
|
rs1961559604
|
|
|
NM_004360.5(CDH1):c.*29C>A
|
|
|
|
NM_004360.5(CDH1):c.*309C>T
|
rs562205897
|
|
|
NM_004360.5(CDH1):c.*3del (p.Ter883=)
|
|
|
|
NM_004360.5(CDH1):c.*474_*475dup
|
rs113202135
|
|
|
NM_004360.5(CDH1):c.*475del
|
rs113202135
|
|
|
NM_004360.5(CDH1):c.*55G>A
|
|
|
|
NM_004360.5(CDH1):c.*627T>G
|
rs1567518268
|
|
|
NM_004360.5(CDH1):c.*7C>G
|
|
|
|
NM_004360.5(CDH1):c.1001A>G (p.Asp334Gly)
|
|
|
|
NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly)
|
rs587780784
|
|
|
NM_004360.5(CDH1):c.1006G>C (p.Glu336Gln)
|
rs1960844685
|
|
|
NM_004360.5(CDH1):c.1008+13_1008+14delinsAT
|
|
|
|
NM_004360.5(CDH1):c.1008+3C>T
|
|
|
|
NM_004360.5(CDH1):c.1008+4A>G
|
|
|
|
NM_004360.5(CDH1):c.1008+4_1008+5del
|
rs1597894346
|
|
|
NM_004360.5(CDH1):c.1008+5G>C
|
rs747041054
|
|
|
NM_004360.5(CDH1):c.1008+6G>A
|
rs1960845278
|
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
|
NM_004360.5(CDH1):c.1009-32G>A
|
|
|
|
NM_004360.5(CDH1):c.1009-3C>G
|
|
|
|
NM_004360.5(CDH1):c.1009-6C>A
|
rs771652165
|
|
|
NM_004360.5(CDH1):c.100G>C (p.Ala34Pro)
|
rs1486768673
|
|
|
NM_004360.5(CDH1):c.100G>T (p.Ala34Ser)
|
rs1486768673
|
|
|
NM_004360.5(CDH1):c.1012T>G (p.Phe338Val)
|
rs2152132486
|
|
|
NM_004360.5(CDH1):c.1013T>A (p.Phe338Tyr)
|
rs1060501219
|
|
|
NM_004360.5(CDH1):c.1013T>G (p.Phe338Cys)
|
rs1060501219
|
|
|
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)
|
rs1555515709
|
|
|
NM_004360.5(CDH1):c.1015C>T (p.Pro339Ser)
|
|
|
|
NM_004360.5(CDH1):c.1016C>G (p.Pro339Arg)
|
rs1597894647
|
|
|
NM_004360.5(CDH1):c.1016C>T (p.Pro339Leu)
|
|
|
|
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser)
|
rs116093741
|
|
|
NM_004360.5(CDH1):c.1022A>G (p.Tyr341Cys)
|
rs1960854403
|
|
|
NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)
|
|
|
|
NM_004360.5(CDH1):c.1025C>A (p.Thr342Asn)
|
rs2152132510
|
|
|
NM_004360.5(CDH1):c.1027C>A (p.Leu343Met)
|
rs1555515720
|
|
|
NM_004360.5(CDH1):c.1027C>G (p.Leu343Val)
|
rs1555515720
|
|
|
NM_004360.5(CDH1):c.1033G>A (p.Val345Ile)
|
rs764532067
|
|
|
NM_004360.5(CDH1):c.1034T>C (p.Val345Ala)
|
rs1064793080
|
|
|
NM_004360.5(CDH1):c.1036C>G (p.Gln346Glu)
|
rs878854676
|
|
|
NM_004360.5(CDH1):c.1039G>A (p.Ala347Thr)
|
rs587782869
|
|
|
NM_004360.5(CDH1):c.103G>A (p.Glu35Lys)
|
rs1597838625
|
|
|
NM_004360.5(CDH1):c.1042G>A (p.Ala348Thr)
|
rs1555515724
|
|
|
NM_004360.5(CDH1):c.1042G>T (p.Ala348Ser)
|
rs1555515724
|
|
|
NM_004360.5(CDH1):c.1048C>A (p.Leu350Ile)
|
|
|
|
NM_004360.5(CDH1):c.1051C>G (p.Gln351Glu)
|
rs1555515726
|
|
|
NM_004360.5(CDH1):c.1052A>G (p.Gln351Arg)
|
rs762123073
|
|
|
NM_004360.5(CDH1):c.1055G>A (p.Gly352Asp)
|
rs1555515728
|
|
|
NM_004360.5(CDH1):c.1056T>C (p.Gly352=)
|
|
|
|
NM_004360.5(CDH1):c.1058A>T (p.Glu353Val)
|
rs1555515730
|
|
|
NM_004360.5(CDH1):c.105G>C (p.Glu35Asp)
|
rs876660131
|
|
|
NM_004360.5(CDH1):c.1060G>T (p.Gly354Trp)
|
|
|
|
NM_004360.5(CDH1):c.1061G>C (p.Gly354Ala)
|
rs1960856637
|
|
|
NM_004360.5(CDH1):c.106A>T (p.Ser36Cys)
|
rs1555509773
|
|
|
NM_004360.5(CDH1):c.1072A>G (p.Thr358Ala)
|
|
|
|
NM_004360.5(CDH1):c.1073C>G (p.Thr358Arg)
|
rs1191901557
|
|
|
NM_004360.5(CDH1):c.1075G>A (p.Ala359Thr)
|
rs2152132614
|
|
|
NM_004360.5(CDH1):c.1075G>T (p.Ala359Ser)
|
rs2152132614
|
|
|
NM_004360.5(CDH1):c.1076C>T (p.Ala359Val)
|
rs1960857478
|
|
|
NM_004360.5(CDH1):c.1078A>G (p.Thr360Ala)
|
|
|
|
NM_004360.5(CDH1):c.1079C>T (p.Thr360Ile)
|
rs549579183
|
|
|
NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)
|
rs1064794682
|
|
|
NM_004360.5(CDH1):c.1081G>A (p.Ala361Thr)
|
rs2152132621
|
|
|
NM_004360.5(CDH1):c.1081G>C (p.Ala361Pro)
|
|
|
|
NM_004360.5(CDH1):c.1081G>T (p.Ala361Ser)
|
rs2152132621
|
|
|
NM_004360.5(CDH1):c.1081_1082delinsCA (p.Ala361His)
|
|
|
|
NM_004360.5(CDH1):c.1083T>G (p.Ala361=)
|
|
|
|
NM_004360.5(CDH1):c.1084G>A (p.Val362Met)
|
|
|
|
NM_004360.5(CDH1):c.1087A>C (p.Ile363Leu)
|
rs1555515740
|
|
|
NM_004360.5(CDH1):c.1087A>G (p.Ile363Val)
|
rs1555515740
|
|
|
NM_004360.5(CDH1):c.1090A>G (p.Thr364Ala)
|
|
|
|
NM_004360.5(CDH1):c.1091C>G (p.Thr364Arg)
|
rs876658376
|
|
|
NM_004360.5(CDH1):c.1091C>T (p.Thr364Ile)
|
rs876658376
|
|
|
NM_004360.5(CDH1):c.1093G>A (p.Val365Ile)
|
rs1555515742
|
|
|
NM_004360.5(CDH1):c.1093G>C (p.Val365Leu)
|
rs1555515742
|
|
|
NM_004360.5(CDH1):c.1096A>C (p.Thr366Pro)
|
rs1060501238
|
|
|
NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)
|
rs1060501238
|
|
|
NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)
|
rs876660260
|
|
|
NM_004360.5(CDH1):c.10T>G (p.Trp4Gly)
|
|
|
|
NM_004360.5(CDH1):c.1102A>G (p.Thr368Ala)
|
rs1555515749
|
|
|
NM_004360.5(CDH1):c.1103C>A (p.Thr368Asn)
|
rs367868307
|
|
|
NM_004360.5(CDH1):c.1103C>G (p.Thr368Ser)
|
rs367868307
|
|
|
NM_004360.5(CDH1):c.1105A>C (p.Asn369His)
|
|
|
|
NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)
|
rs1960858920
|
|
|
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
|
|
|
|
NM_004360.5(CDH1):c.1108G>A (p.Asp370Asn)
|
rs1960859184
|
|
|
NM_004360.5(CDH1):c.110A>G (p.Tyr37Cys)
|
|
|
|
NM_004360.5(CDH1):c.1112A>C (p.Asn371Thr)
|
rs1555515754
|
|
|
NM_004360.5(CDH1):c.1112A>G (p.Asn371Ser)
|
rs1555515754
|
|
|
NM_004360.5(CDH1):c.1114C>A (p.Pro372Thr)
|
rs1555515758
|
|
|
NM_004360.5(CDH1):c.1114C>G (p.Pro372Ala)
|
|
|
|
NM_004360.5(CDH1):c.1115C>T (p.Pro372Leu)
|
rs1555515760
|
|
|
NM_004360.5(CDH1):c.1122C>A (p.Ile374=)
|
|
|
|
NM_004360.5(CDH1):c.1123T>G (p.Phe375Val)
|
rs1597894887
|
|
|
NM_004360.5(CDH1):c.1124T>A (p.Phe375Tyr)
|
rs1960860209
|
|
|
NM_004360.5(CDH1):c.1126A>C (p.Asn376His)
|
rs777527338
|
|
|
NM_004360.5(CDH1):c.1127A>C (p.Asn376Thr)
|
|
|
|
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)
|
rs786203442
|
|
|
NM_004360.5(CDH1):c.1137+106A>G
|
|
|
|
NM_004360.5(CDH1):c.1137+114A>C
|
|
|
|
NM_004360.5(CDH1):c.1137+4A>C
|
rs967063432
|
|
|
NM_004360.5(CDH1):c.1137+4A>G
|
rs967063432
|
|
|
NM_004360.5(CDH1):c.1137+6T>C
|
rs1960861386
|
|
|
NM_004360.5(CDH1):c.1137+81C>T
|
|
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
|
NM_004360.5(CDH1):c.1137+9A>T
|
rs780705655
|
|
|
NM_004360.5(CDH1):c.1138-22G>T
|
|
|
|
NM_004360.5(CDH1):c.1138-5T>G
|
rs763879027
|
|
|
NM_004360.5(CDH1):c.113C>A (p.Thr38Lys)
|
rs587778171
|
|
|
NM_004360.5(CDH1):c.113C>G (p.Thr38Arg)
|
rs587778171
|
|
|
NM_004360.5(CDH1):c.113C>T (p.Thr38Met)
|
rs587778171
|
|
|
NM_004360.5(CDH1):c.1142A>G (p.Lys381Arg)
|
rs780867132
|
|
|
NM_004360.5(CDH1):c.1144G>A (p.Gly382Ser)
|
rs1597895701
|
|
|
NM_004360.5(CDH1):c.1145G>T (p.Gly382Val)
|
rs1567507684
|
|
|
NM_004360.5(CDH1):c.1150G>A (p.Val384Met)
|
|
|
|
NM_004360.5(CDH1):c.1153C>A (p.Pro385Thr)
|
rs587781612
|
|
|
NM_004360.5(CDH1):c.1153C>G (p.Pro385Ala)
|
|
|
|
NM_004360.5(CDH1):c.1153C>T (p.Pro385Ser)
|
|
|
|
NM_004360.5(CDH1):c.1156G>A (p.Glu386Lys)
|
rs2152133328
|
|
|
NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)
|
rs2152133333
|
|
|
NM_004360.5(CDH1):c.1159A>T (p.Asn387Tyr)
|
|
|
|
NM_004360.5(CDH1):c.1160A>C (p.Asn387Thr)
|
|
|
|
NM_004360.5(CDH1):c.1160A>G (p.Asn387Ser)
|
rs779426744
|
|
|
NM_004360.5(CDH1):c.1161C>A (p.Asn387Lys)
|
rs111266450
|
|
|
NM_004360.5(CDH1):c.1162G>C (p.Glu388Gln)
|
rs372838203
|
|
|
NM_004360.5(CDH1):c.1163A>G (p.Glu388Gly)
|
rs1960890872
|
|
|
NM_004360.5(CDH1):c.1163_1171dup (p.Glu388_Asn390dup)
|
rs772580163
|
|
|
NM_004360.5(CDH1):c.1165G>A (p.Ala389Thr)
|
rs1597895749
|
|
|
NM_004360.5(CDH1):c.1166C>A (p.Ala389Asp)
|
rs1555515869
|
|
|
NM_004360.5(CDH1):c.1166C>T (p.Ala389Val)
|
rs1555515869
|
|
|
NM_004360.5(CDH1):c.1168A>G (p.Asn390Asp)
|
rs1555515870
|
|
|
NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser)
|
rs964044070
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1170CGT[1] (p.Val392del)
|
rs1555515872
|
|
|
NM_004360.5(CDH1):c.1171G>T (p.Val391Phe)
|
rs556110297
|
|
|
NM_004360.5(CDH1):c.1172T>C (p.Val391Ala)
|
rs1555515873
|
|
|
NM_004360.5(CDH1):c.1172T>G (p.Val391Gly)
|
rs1555515873
|
|
|
NM_004360.5(CDH1):c.1177A>G (p.Ile393Val)
|
rs1555515877
|
|
|
NM_004360.5(CDH1):c.1179CAC[1] (p.Thr395del)
|
rs1060501249
|
|
|
NM_004360.5(CDH1):c.1180A>G (p.Thr394Ala)
|
rs1567507749
|
|
|
NM_004360.5(CDH1):c.1181C>A (p.Thr394Asn)
|
rs1332444039
|
|
|
NM_004360.5(CDH1):c.1181C>G (p.Thr394Ser)
|
|
|
|
NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)
|
rs201135424
|
|
|
NM_004360.5(CDH1):c.1184C>T (p.Thr395Ile)
|
rs587781751
|
|
|
NM_004360.5(CDH1):c.1186C>A (p.Leu396Met)
|
rs1597895834
|
|
|
NM_004360.5(CDH1):c.1189A>G (p.Lys397Glu)
|
|
|
|
NM_004360.5(CDH1):c.118A>G (p.Thr40Ala)
|
|
|
|
NM_004360.5(CDH1):c.1190A>C (p.Lys397Thr)
|
|
|
|
NM_004360.5(CDH1):c.1192G>A (p.Val398Met)
|
rs2152133395
|
|
|
NM_004360.5(CDH1):c.1194G>A (p.Val398=)
|
rs1303655653
|
|
|
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)
|
rs1960893142
|
|
|
NM_004360.5(CDH1):c.119C>T (p.Thr40Met)
|
rs1962460411
|
|
|
NM_004360.5(CDH1):c.1201G>A (p.Ala401Thr)
|
rs553525438
|
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
|
NM_004360.5(CDH1):c.1207G>T (p.Ala403Ser)
|
rs1960893623
|
|
|
NM_004360.5(CDH1):c.1208C>T (p.Ala403Val)
|
rs1960893696
|
|
|
NM_004360.5(CDH1):c.1210C>A (p.Pro404Thr)
|
|
|
|
NM_004360.5(CDH1):c.1210C>G (p.Pro404Ala)
|
rs1334047600
|
|
|
NM_004360.5(CDH1):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_004360.5(CDH1):c.1214A>C (p.Asn405Thr)
|
|
|
|
NM_004360.5(CDH1):c.1214A>T (p.Asn405Ile)
|
rs587778175
|
|
|
NM_004360.5(CDH1):c.1215T>A (p.Asn405Lys)
|
rs1555515891
|
|
|
NM_004360.5(CDH1):c.1217C>A (p.Thr406Asn)
|
rs753770270
|
|
|
NM_004360.5(CDH1):c.1219C>G (p.Pro407Ala)
|
rs2152133456
|
|
|
NM_004360.5(CDH1):c.121G>T (p.Val41Leu)
|
rs786202465
|
|
|
NM_004360.5(CDH1):c.1220C>T (p.Pro407Leu)
|
rs1060501236
|
|
|
NM_004360.5(CDH1):c.1222G>C (p.Ala408Pro)
|
rs1960894869
|
|
|
NM_004360.5(CDH1):c.1222G>T (p.Ala408Ser)
|
|
|
|
NM_004360.5(CDH1):c.1223C>A (p.Ala408Glu)
|
|
|
|
NM_004360.5(CDH1):c.1223C>G (p.Ala408Gly)
|
rs138135866
|
|
|
NM_004360.5(CDH1):c.1228G>C (p.Glu410Gln)
|
rs187906987
|
|
|
NM_004360.5(CDH1):c.122T>G (p.Val41Gly)
|
|
|
|
NM_004360.5(CDH1):c.1231G>A (p.Ala411Thr)
|
rs2152133489
|
|
|
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)
|
rs587782189
|
|
|
NM_004360.5(CDH1):c.1235T>C (p.Val412Ala)
|
rs1960895805
|
|
|
NM_004360.5(CDH1):c.1238A>G (p.Tyr413Cys)
|
rs2152133505
|
|
|
NM_004360.5(CDH1):c.1240A>G (p.Thr414Ala)
|
rs863224723
|
|
|
NM_004360.5(CDH1):c.1241C>G (p.Thr414Ser)
|
rs755571454
|
|
|
NM_004360.5(CDH1):c.1241C>T (p.Thr414Ile)
|
rs755571454
|
|
|
NM_004360.5(CDH1):c.1248G>T (p.Leu416Phe)
|
|
|
|
NM_004360.5(CDH1):c.1249A>C (p.Asn417His)
|
rs1597896022
|
|
|
NM_004360.5(CDH1):c.124C>T (p.Pro42Ser)
|
rs1962460692
|
|
|
NM_004360.5(CDH1):c.1250ATG[2] (p.Asp419del)
|
|
|
|
NM_004360.5(CDH1):c.1252G>A (p.Asp418Asn)
|
|
|
|
NM_004360.5(CDH1):c.1253A>G (p.Asp418Gly)
|
|
|
|
NM_004360.5(CDH1):c.1253A>T (p.Asp418Val)
|
|
|
|
NM_004360.5(CDH1):c.1254T>A (p.Asp418Glu)
|
rs1057520936
|
|
|
NM_004360.5(CDH1):c.1255G>A (p.Asp419Asn)
|
rs1597896057
|
|
|
NM_004360.5(CDH1):c.1256A>C (p.Asp419Ala)
|
rs2152133545
|
|
|
NM_004360.5(CDH1):c.1256A>G (p.Asp419Gly)
|
rs2152133545
|
|
|
NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)
|
rs775730054
|
|
|
NM_004360.5(CDH1):c.1258G>A (p.Gly420Ser)
|
rs1960897887
|
|
|
NM_004360.5(CDH1):c.1259G>A (p.Gly420Asp)
|
rs878854677
|
|
|
NM_004360.5(CDH1):c.1259G>T (p.Gly420Val)
|
rs878854677
|
|
|
NM_004360.5(CDH1):c.125C>G (p.Pro42Arg)
|
rs876659333
|
|
|
NM_004360.5(CDH1):c.1262G>A (p.Gly421Glu)
|
rs2152133559
|
|
|
NM_004360.5(CDH1):c.1265A>G (p.Gln422Arg)
|
rs2152133567
|
|
|
NM_004360.5(CDH1):c.1267T>C (p.Phe423Leu)
|
rs786202027
|
|
|
NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)
|
rs570930882
|
|
|
NM_004360.5(CDH1):c.1274T>C (p.Val425Ala)
|
|
|
|
NM_004360.5(CDH1):c.1277C>A (p.Thr426Asn)
|
rs876658901
|
|
|
NM_004360.5(CDH1):c.1277C>T (p.Thr426Ile)
|
rs876658901
|
|
|
NM_004360.5(CDH1):c.127C>G (p.Arg43Gly)
|
|
|
|
NM_004360.5(CDH1):c.127C>T (p.Arg43Trp)
|
rs1962460987
|
|
|
NM_004360.5(CDH1):c.1280C>A (p.Thr427Lys)
|
rs2152133597
|
|
|
NM_004360.5(CDH1):c.1285C>T (p.Pro429Ser)
|
rs1597896121
|
|
|
NM_004360.5(CDH1):c.1286C>T (p.Pro429Leu)
|
rs876658766
|
|
|
NM_004360.5(CDH1):c.1288G>A (p.Val430Met)
|
|
|
|
NM_004360.5(CDH1):c.1288G>C (p.Val430Leu)
|
rs1960899829
|
|
|
NM_004360.5(CDH1):c.1289T>C (p.Val430Ala)
|
rs730881665
|
|
|
NM_004360.5(CDH1):c.128G>A (p.Arg43Gln)
|
rs1962461060
|
|
|
NM_004360.5(CDH1):c.128G>C (p.Arg43Pro)
|
|
|
|
NM_004360.5(CDH1):c.1291AAC[1] (p.Asn432del)
|
rs1567507933
|
|
|
NM_004360.5(CDH1):c.1294A>G (p.Asn432Asp)
|
rs2152133625
|
|
|
NM_004360.5(CDH1):c.1295A>G (p.Asn432Ser)
|
rs1230641631
|
|
|
NM_004360.5(CDH1):c.1298A>T (p.Asp433Val)
|
|
|
|
NM_004360.5(CDH1):c.129_163+9dup
|
|
|
|
NM_004360.5(CDH1):c.1300G>A (p.Gly434Ser)
|
|
|
|
NM_004360.5(CDH1):c.1301G>A (p.Gly434Asp)
|
rs1555515914
|
|
|
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)
|
rs864622644
|
|
|
NM_004360.5(CDH1):c.1303A>T (p.Ile435Phe)
|
rs864622644
|
|
|
NM_004360.5(CDH1):c.1304T>A (p.Ile435Asn)
|
|
|
|
NM_004360.5(CDH1):c.1306T>A (p.Leu436Met)
|
rs1555515917
|
|
|
NM_004360.5(CDH1):c.1308G>C (p.Leu436Phe)
|
rs557551011
|
|
|
NM_004360.5(CDH1):c.1309A>C (p.Lys437Gln)
|
rs786201841
|
|
|
NM_004360.5(CDH1):c.1313C>G (p.Thr438Arg)
|
rs876658218
|
|
|
NM_004360.5(CDH1):c.1313C>T (p.Thr438Ile)
|
rs876658218
|
|
|
NM_004360.5(CDH1):c.1316C>A (p.Ala439Glu)
|
rs1597896180
|
|
|
NM_004360.5(CDH1):c.131G>T (p.Arg44Leu)
|
rs1375178645
|
|
|
NM_004360.5(CDH1):c.1320+17_1320+18insTAAGATG
|
|
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
|
|
|
NM_004360.5(CDH1):c.1320+43C>G
|
|
|
|
NM_004360.5(CDH1):c.1320+5G>C
|
rs1567508007
|
|
|
NM_004360.5(CDH1):c.1321-140T>C
|
|
|
|
NM_004360.5(CDH1):c.1321-37T>C
|
|
|
|
NM_004360.5(CDH1):c.1321-3T>C
|
|
|
|
NM_004360.5(CDH1):c.1321-49A>G
|
|
|
|
NM_004360.5(CDH1):c.1321-65A>T
|
|
|
|
NM_004360.5(CDH1):c.1321G>A (p.Gly441Ser)
|
rs1960957210
|
|
|
NM_004360.5(CDH1):c.1322G>T (p.Gly441Val)
|
rs2152134670
|
|
|
NM_004360.5(CDH1):c.1323C>T (p.Gly441=)
|
rs763647680
|
|
|
NM_004360.5(CDH1):c.1326G>C (p.Leu442Phe)
|
rs1555516080
|
|
|
NM_004360.5(CDH1):c.1327G>A (p.Asp443Asn)
|
rs2152134678
|
|
|
NM_004360.5(CDH1):c.1328A>G (p.Asp443Gly)
|
rs1555516083
|
|
|
NM_004360.5(CDH1):c.1330T>C (p.Phe444Leu)
|
|
|
|
NM_004360.5(CDH1):c.1332T>A (p.Phe444Leu)
|
rs1392114487
|
|
|
NM_004360.5(CDH1):c.1333G>C (p.Glu445Gln)
|
rs864622184
|
|
|
NM_004360.5(CDH1):c.1336G>A (p.Ala446Thr)
|
rs876661078
|
|
|
NM_004360.5(CDH1):c.1337C>A (p.Ala446Asp)
|
|
|
|
NM_004360.5(CDH1):c.1337C>T (p.Ala446Val)
|
rs1960958031
|
|
|
NM_004360.5(CDH1):c.1348T>C (p.Tyr450His)
|
rs750741214
|
|
|
NM_004360.5(CDH1):c.1348T>G (p.Tyr450Asp)
|
rs750741214
|
|
|
NM_004360.5(CDH1):c.134A>C (p.His45Pro)
|
rs1962461369
|
|
|
NM_004360.5(CDH1):c.134A>T (p.His45Leu)
|
rs1962461369
|
|
|
NM_004360.5(CDH1):c.1351A>T (p.Ile451Phe)
|
rs377416092
|
|
|
NM_004360.5(CDH1):c.1357C>A (p.His453Asn)
|
rs1597897817
|
|
|
NM_004360.5(CDH1):c.1357C>T (p.His453Tyr)
|
|
|
|
NM_004360.5(CDH1):c.1358A>G (p.His453Arg)
|
rs1960959163
|
|
|
NM_004360.5(CDH1):c.1359C>A (p.His453Gln)
|
rs114861467
|
|
|
NM_004360.5(CDH1):c.135C>G (p.His45Gln)
|
|
|
|
NM_004360.5(CDH1):c.1360G>C (p.Val454Leu)
|
rs587780112
|
|
|
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)
|
rs876659762
|
|
|
NM_004360.5(CDH1):c.1363G>T (p.Ala455Ser)
|
rs876659762
|
|
|
NM_004360.5(CDH1):c.1364C>G (p.Ala455Gly)
|
rs532576241
|
|
|
NM_004360.5(CDH1):c.1366G>A (p.Val456Met)
|
rs974965262
|
|
|
NM_004360.5(CDH1):c.1366G>C (p.Val456Leu)
|
rs974965262
|
|
|
NM_004360.5(CDH1):c.1366G>T (p.Val456Leu)
|
rs974965262
|
|
|
NM_004360.5(CDH1):c.136C>G (p.Leu46Val)
|
rs1410833063
|
|
|
NM_004360.5(CDH1):c.1371G>T (p.Thr457=)
|
|
|
|
NM_004360.5(CDH1):c.1375G>A (p.Val459Met)
|
rs1567508837
|
|
|
NM_004360.5(CDH1):c.1376T>C (p.Val459Ala)
|
rs1555516109
|
|
|
NM_004360.5(CDH1):c.1378G>C (p.Val460Leu)
|
rs2152134785
|
|
|
NM_004360.5(CDH1):c.1379T>A (p.Val460Glu)
|
rs1960960367
|
|
|
NM_004360.5(CDH1):c.1379T>C (p.Val460Ala)
|
rs1960960367
|
|
|
NM_004360.5(CDH1):c.1381C>A (p.Pro461Thr)
|
rs1355592880
|
|
|
NM_004360.5(CDH1):c.1382C>A (p.Pro461His)
|
rs876659268
|
|
|
NM_004360.5(CDH1):c.1382C>T (p.Pro461Leu)
|
rs876659268
|
|
|
NM_004360.5(CDH1):c.1385T>C (p.Phe462Ser)
|
rs587782622
|
|
|
NM_004360.5(CDH1):c.1387G>A (p.Glu463Lys)
|
rs1960961009
|
|
|
NM_004360.5(CDH1):c.1390G>A (p.Val464Ile)
|
rs1597897887
|
|
|
NM_004360.5(CDH1):c.1391T>C (p.Val464Ala)
|
rs2152134812
|
|
|
NM_004360.5(CDH1):c.1397T>C (p.Leu466Pro)
|
rs2152134822
|
|
|
NM_004360.5(CDH1):c.1399A>G (p.Thr467Ala)
|
rs1597897918
|
|
|
NM_004360.5(CDH1):c.139G>C (p.Glu47Gln)
|
rs2152114456
|
|
|
NM_004360.5(CDH1):c.13A>G (p.Ser5Gly)
|
rs1555509637
|
|
|
NM_004360.5(CDH1):c.1401C>T (p.Thr467=)
|
|
|
|
NM_004360.5(CDH1):c.1403C>T (p.Thr468Ile)
|
rs876659141
|
|
|
NM_004360.5(CDH1):c.1406C>G (p.Ser469Cys)
|
|
|
|
NM_004360.5(CDH1):c.1406C>T (p.Ser469Phe)
|
|
|
|
NM_004360.5(CDH1):c.140A>G (p.Glu47Gly)
|
rs2152114458
|
|
|
NM_004360.5(CDH1):c.1415C>A (p.Thr472Asn)
|
rs2152134870
|
|
|
NM_004360.5(CDH1):c.1415C>T (p.Thr472Ile)
|
|
|
|
NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala)
|
rs773858736
|
|
|
NM_004360.5(CDH1):c.1421C>T (p.Thr474Ile)
|
rs1555516124
|
|
|
NM_004360.5(CDH1):c.1424T>C (p.Val475Ala)
|
rs1060501217
|
|
|
NM_004360.5(CDH1):c.1424T>G (p.Val475Gly)
|
|
|
|
NM_004360.5(CDH1):c.1426G>A (p.Asp476Asn)
|
|
|
|
NM_004360.5(CDH1):c.1429G>A (p.Val477Met)
|
rs1960963393
|
|
|
NM_004360.5(CDH1):c.1430T>A (p.Val477Glu)
|
rs1960963485
|
|
|
NM_004360.5(CDH1):c.1433T>C (p.Leu478Pro)
|
rs35520415
|
|
|
NM_004360.5(CDH1):c.1435G>A (p.Asp479Asn)
|
rs587782796
|
|
|
NM_004360.5(CDH1):c.1435G>C (p.Asp479His)
|
rs587782796
|
|
|
NM_004360.5(CDH1):c.1435G>T (p.Asp479Tyr)
|
rs587782796
|
|
|
NM_004360.5(CDH1):c.1436A>G (p.Asp479Gly)
|
rs1555516131
|
|
|
NM_004360.5(CDH1):c.1436A>T (p.Asp479Val)
|
rs1555516131
|
|
|
NM_004360.5(CDH1):c.1437T>G (p.Asp479Glu)
|
|
|
|
NM_004360.5(CDH1):c.1438G>A (p.Val480Met)
|
rs786202675
|
|
|
NM_004360.5(CDH1):c.143G>C (p.Arg48Thr)
|
|
|
|
NM_004360.5(CDH1):c.1444G>A (p.Glu482Lys)
|
rs1555516138
|
|
|
NM_004360.5(CDH1):c.1446A>C (p.Glu482Asp)
|
rs863224724
|
|
|
NM_004360.5(CDH1):c.1448C>G (p.Ala483Gly)
|
|
|
|
NM_004360.5(CDH1):c.1448C>T (p.Ala483Val)
|
rs1960964468
|
|
|
NM_004360.5(CDH1):c.1451C>T (p.Pro484Leu)
|
rs1960964657
|
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
|
NM_004360.5(CDH1):c.1454T>G (p.Ile485Ser)
|
rs587783049
|
|
|
NM_004360.5(CDH1):c.1456T>A (p.Phe486Ile)
|
rs1331977824
|
|
|
NM_004360.5(CDH1):c.1459G>A (p.Val487Met)
|
|
|
|
NM_004360.5(CDH1):c.145G>A (p.Gly49Ser)
|
rs1060501223
|
|
|
NM_004360.5(CDH1):c.145G>C (p.Gly49Arg)
|
rs1060501223
|
|
|
NM_004360.5(CDH1):c.1462C>G (p.Pro488Ala)
|
rs1555516144
|
|
|
NM_004360.5(CDH1):c.1462C>T (p.Pro488Ser)
|
rs1555516144
|
|
|
NM_004360.5(CDH1):c.1463C>G (p.Pro488Arg)
|
|
|
|
NM_004360.5(CDH1):c.1465C>T (p.Pro489Ser)
|
rs786202508
|
|
|
NM_004360.5(CDH1):c.1466C>A (p.Pro489His)
|
rs766713582
|
|
|
NM_004360.5(CDH1):c.1466C>T (p.Pro489Leu)
|
rs766713582
|
|
|
NM_004360.5(CDH1):c.1468G>A (p.Glu490Lys)
|
rs1555516147
|
|
|
NM_004360.5(CDH1):c.1469A>G (p.Glu490Gly)
|
rs1960966026
|
|
|
NM_004360.5(CDH1):c.146G>A (p.Gly49Asp)
|
|
|
|
NM_004360.5(CDH1):c.1474A>G (p.Arg492Gly)
|
rs2152134985
|
|
|
NM_004360.5(CDH1):c.1475G>C (p.Arg492Thr)
|
rs587781286
|
|
|
NM_004360.5(CDH1):c.147_163+1del
|
rs1555509779
|
|
|
NM_004360.5(CDH1):c.1480G>A (p.Glu494Lys)
|
|
|
|
NM_004360.5(CDH1):c.1481A>G (p.Glu494Gly)
|
rs1555516153
|
|
|
NM_004360.5(CDH1):c.1483G>T (p.Val495Leu)
|
rs931521632
|
|
|
NM_004360.5(CDH1):c.1484T>G (p.Val495Gly)
|
|
|
|
NM_004360.5(CDH1):c.1486T>C (p.Ser496Pro)
|
|
|
|
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)
|
rs1567508990
|
|
|
NM_004360.5(CDH1):c.148C>G (p.Arg50Gly)
|
rs876659739
|
|
|
NM_004360.5(CDH1):c.148C>T (p.Arg50Cys)
|
rs876659739
|
|
|
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)
|
rs2152135021
|
|
|
NM_004360.5(CDH1):c.1496T>C (p.Phe499Ser)
|
rs1555516163
|
|
|
NM_004360.5(CDH1):c.149G>A (p.Arg50His)
|
|
|
|
NM_004360.5(CDH1):c.149G>T (p.Arg50Leu)
|
|
|
|
NM_004360.5(CDH1):c.14G>A (p.Ser5Asn)
|
rs998138284
|
|
|
NM_004360.5(CDH1):c.1501G>T (p.Val501Leu)
|
rs368690400
|
|
|
NM_004360.5(CDH1):c.1502T>G (p.Val501Gly)
|
rs1960968094
|
|
|
NM_004360.5(CDH1):c.1504G>T (p.Gly502Cys)
|
rs2152135049
|
|
|
NM_004360.5(CDH1):c.1505G>A (p.Gly502Asp)
|
rs1597898169
|
|
|
NM_004360.5(CDH1):c.1509G>C (p.Gln503His)
|
rs876659548
|
|
|
NM_004360.5(CDH1):c.1510G>A (p.Glu504Lys)
|
rs1555516170
|
|
|
NM_004360.5(CDH1):c.1512A>G (p.Glu504=)
|
rs748906857
|
|
|
NM_004360.5(CDH1):c.1513A>G (p.Ile505Val)
|
|
|
|
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr)
|
rs1597898186
|
|
|
NM_004360.5(CDH1):c.1517C>T (p.Thr506Ile)
|
rs1960969012
|
|
|
NM_004360.5(CDH1):c.1519T>A (p.Ser507Thr)
|
|
|
|
NM_004360.5(CDH1):c.1520C>T (p.Ser507Phe)
|
rs2152135087
|
|
|
NM_004360.5(CDH1):c.1521_1538del (p.Tyr508_Pro513del)
|
rs1567509020
|
|
|
NM_004360.5(CDH1):c.1522T>A (p.Tyr508Asn)
|
rs1555516173
|
|
|
NM_004360.5(CDH1):c.1525A>T (p.Thr509Ser)
|
rs761356661
|
|
|
NM_004360.5(CDH1):c.1526C>T (p.Thr509Ile)
|
rs771551231
|
|
|
NM_004360.5(CDH1):c.1529C>A (p.Ala510Asp)
|
rs1344960746
|
|
|
NM_004360.5(CDH1):c.1529C>T (p.Ala510Val)
|
rs1344960746
|
|
|
NM_004360.5(CDH1):c.152T>C (p.Val51Ala)
|
|
|
|
NM_004360.5(CDH1):c.152T>G (p.Val51Gly)
|
|
|
|
NM_004360.5(CDH1):c.1532A>G (p.Gln511Arg)
|
rs1555516178
|
|
|
NM_004360.5(CDH1):c.1533G>T (p.Gln511His)
|
rs876658342
|
|
|
NM_004360.5(CDH1):c.1536G>T (p.Glu512Asp)
|
rs1597898279
|
|
|
NM_004360.5(CDH1):c.1538C>G (p.Pro513Arg)
|
|
|
|
NM_004360.5(CDH1):c.1538C>T (p.Pro513Leu)
|
rs1555516185
|
|
|
NM_004360.5(CDH1):c.1543A>T (p.Thr515Ser)
|
rs1219371636
|
|
|
NM_004360.5(CDH1):c.1544C>T (p.Thr515Ile)
|
rs1555516188
|
|
|
NM_004360.5(CDH1):c.1549A>G (p.Met517Val)
|
rs876658146
|
|
|
NM_004360.5(CDH1):c.1550T>A (p.Met517Lys)
|
rs786203656
|
|
|
NM_004360.5(CDH1):c.1550T>G (p.Met517Arg)
|
rs786203656
|
|
|
NM_004360.5(CDH1):c.1552G>A (p.Glu518Lys)
|
rs1597898324
|
|
|
NM_004360.5(CDH1):c.1553A>C (p.Glu518Ala)
|
rs2152135146
|
|
|
NM_004360.5(CDH1):c.1558A>G (p.Lys520Glu)
|
rs1555516192
|
|
|
NM_004360.5(CDH1):c.155T>C (p.Leu52Pro)
|
rs1367719041
|
|
|
NM_004360.5(CDH1):c.1561A>G (p.Ile521Val)
|
rs1567509105
|
|
|
NM_004360.5(CDH1):c.1565+12G>T
|
|
|
|
NM_004360.5(CDH1):c.1565+13A>G
|
rs1057522979
|
|
|
NM_004360.5(CDH1):c.1565+3A>C
|
|
|
|
NM_004360.5(CDH1):c.1565+3A>G
|
rs1555516202
|
|
|
NM_004360.5(CDH1):c.1565+3_1565+6del
|
rs1597898359
|
|
|
NM_004360.5(CDH1):c.1565+5G>A
|
rs786201861
|
|
|
NM_004360.5(CDH1):c.1565+5del
|
rs1555516205
|
|
|
NM_004360.5(CDH1):c.1565+6T>C
|
rs587780785
|
|
|
NM_004360.5(CDH1):c.1565C>A (p.Thr522Lys)
|
rs863224725
|
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
|
NM_004360.5(CDH1):c.1566-38T>G
|
|
|
|
NM_004360.5(CDH1):c.1566-3C>G
|
rs113057579
|
|
|
NM_004360.5(CDH1):c.1566-3C>T
|
rs113057579
|
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
|
NM_004360.5(CDH1):c.1566-9C>G
|
rs1555516509
|
|
|
NM_004360.5(CDH1):c.1566A>G (p.Thr522=)
|
rs1555516521
|
|
|
NM_004360.5(CDH1):c.1566A>T (p.Thr522=)
|
rs1555516521
|
|
|
NM_004360.5(CDH1):c.1567T>C (p.Tyr523His)
|
rs1473643691
|
|
|
NM_004360.5(CDH1):c.1570C>G (p.Arg524Gly)
|
rs373605261
|
|
|
NM_004360.5(CDH1):c.1570C>T (p.Arg524Trp)
|
rs373605261
|
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
|
|
NM_004360.5(CDH1):c.1578G>C (p.Trp526Cys)
|
rs886039590
|
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
|
NM_004360.5(CDH1):c.1586C>A (p.Thr529Asn)
|
|
|
|
NM_004360.5(CDH1):c.1586C>T (p.Thr529Ile)
|
rs1961073180
|
|
|
NM_004360.5(CDH1):c.1588G>C (p.Ala530Pro)
|
rs1555516534
|
|
|
NM_004360.5(CDH1):c.1589C>T (p.Ala530Val)
|
rs1961073536
|
|
|
NM_004360.5(CDH1):c.1592A>G (p.Asn531Ser)
|
rs1596960354
|
|
|
NM_004360.5(CDH1):c.1593C>A (p.Asn531Lys)
|
rs1596960362
|
|
|
NM_004360.5(CDH1):c.1598T>C (p.Leu533Pro)
|
rs1961074036
|
|
|
NM_004360.5(CDH1):c.1602G>C (p.Glu534Asp)
|
|
|
|
NM_004360.5(CDH1):c.1603A>C (p.Ile535Leu)
|
rs144519845
|
|
|
NM_004360.5(CDH1):c.1603A>G (p.Ile535Val)
|
rs144519845
|
|
|
NM_004360.5(CDH1):c.1603A>T (p.Ile535Phe)
|
rs144519845
|
|
|
NM_004360.5(CDH1):c.1609C>T (p.Pro537Ser)
|
rs1961074729
|
|
|
NM_004360.5(CDH1):c.1610C>G (p.Pro537Arg)
|
rs730881667
|
|
|
NM_004360.5(CDH1):c.1612G>A (p.Asp538Asn)
|
rs756154596
|
|
|
NM_004360.5(CDH1):c.1615A>G (p.Thr539Ala)
|
rs864622070
|
|
|
NM_004360.5(CDH1):c.1616C>G (p.Thr539Ser)
|
rs1961075409
|
|
|
NM_004360.5(CDH1):c.1616C>T (p.Thr539Ile)
|
rs1961075409
|
|
|
NM_004360.5(CDH1):c.1618G>A (p.Gly540Ser)
|
|
|
|
NM_004360.5(CDH1):c.1619G>C (p.Gly540Ala)
|
|
|
|
NM_004360.5(CDH1):c.161G>A (p.Arg54Lys)
|
rs876658680
|
|
|
NM_004360.5(CDH1):c.1621G>A (p.Ala541Thr)
|
|
|
|
NM_004360.5(CDH1):c.1622C>T (p.Ala541Val)
|
rs730881668
|
|
|
NM_004360.5(CDH1):c.1624A>G (p.Ile542Val)
|
|
|
|
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met)
|
rs1961075798
|
|
|
NM_004360.5(CDH1):c.163+115A>T
|
|
|
|
NM_004360.5(CDH1):c.163+14G>A
|
|
|
|
NM_004360.5(CDH1):c.163+29142_164-30404del
|
|
|
|
NM_004360.5(CDH1):c.163+75A>T
|
|
|
|
NM_004360.5(CDH1):c.163+81G>A
|
|
|
|
NM_004360.5(CDH1):c.163+90T>G
|
|
|
|
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala)
|
rs786202107
|
|
|
NM_004360.5(CDH1):c.1631C>T (p.Thr544Ile)
|
rs2152136862
|
|
|
NM_004360.5(CDH1):c.1633C>G (p.Arg545Gly)
|
rs863224727
|
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
|
NM_004360.5(CDH1):c.1634G>C (p.Arg545Pro)
|
rs587780115
|
|
|
NM_004360.5(CDH1):c.1636G>A (p.Ala546Thr)
|
rs876658877
|
|
|
NM_004360.5(CDH1):c.1639G>A (p.Glu547Lys)
|
rs1961076622
|
|
|
NM_004360.5(CDH1):c.163G>A (p.Val55Met)
|
rs1597838766
|
|
|
NM_004360.5(CDH1):c.164-3C>T
|
rs2152126584
|
|
|
NM_004360.5(CDH1):c.164-6579_164-1957del
|
|
|
|
NM_004360.5(CDH1):c.164-8976_164-8973dup
|
|
|
|
NM_004360.5(CDH1):c.164-8_164-3del
|
|
|
|
NM_004360.5(CDH1):c.1640A>T (p.Glu547Val)
|
|
|
|
NM_004360.5(CDH1):c.1642C>G (p.Leu548Val)
|
rs1181682630
|
|
|
NM_004360.5(CDH1):c.1643T>G (p.Leu548Arg)
|
rs747801796
|
|
|
NM_004360.5(CDH1):c.1648A>G (p.Arg550Gly)
|
rs1596960520
|
|
|
NM_004360.5(CDH1):c.1649G>A (p.Arg550Lys)
|
rs771649648
|
|
|
NM_004360.5(CDH1):c.1649G>C (p.Arg550Thr)
|
rs771649648
|
|
|
NM_004360.5(CDH1):c.164T>C (p.Val55Ala)
|
rs587778174
|
|
|
NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln)
|
rs1596960532
|
|
|
NM_004360.5(CDH1):c.1658T>G (p.Phe553Cys)
|
rs1961077541
|
|
|
NM_004360.5(CDH1):c.1663C>G (p.His555Asp)
|
rs587782768
|
|
|
NM_004360.5(CDH1):c.1666G>C (p.Val556Leu)
|
rs876660399
|
|
|
NM_004360.5(CDH1):c.166A>G (p.Asn56Asp)
|
rs1060501227
|
|
|
NM_004360.5(CDH1):c.1670A>G (p.Lys557Arg)
|
rs1173188736
|
|
|
NM_004360.5(CDH1):c.1673A>T (p.Asn558Ile)
|
|
|
|
NM_004360.5(CDH1):c.1674C>G (p.Asn558Lys)
|
rs1961078305
|
|
|
NM_004360.5(CDH1):c.1675A>C (p.Ser559Arg)
|
|
|
|
NM_004360.5(CDH1):c.1675A>T (p.Ser559Cys)
|
rs1555516566
|
|
|
NM_004360.5(CDH1):c.1676G>A (p.Ser559Asn)
|
rs1596960625
|
|
|
NM_004360.5(CDH1):c.1677C>G (p.Ser559Arg)
|
rs2152136962
|
|
|
NM_004360.5(CDH1):c.1679C>A (p.Thr560Lys)
|
rs746481984
|
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1682A>G (p.Tyr561Cys)
|
rs918685758
|
|
|
NM_004360.5(CDH1):c.1684A>C (p.Thr562Pro)
|
rs587782061
|
|
|
NM_004360.5(CDH1):c.1685C>G (p.Thr562Arg)
|
rs587782381
|
|
|
NM_004360.5(CDH1):c.1685C>T (p.Thr562Ile)
|
|
|
|
NM_004360.5(CDH1):c.1688C>G (p.Ala563Gly)
|
rs1596960694
|
|
|
NM_004360.5(CDH1):c.1690C>G (p.Leu564Val)
|
rs786201342
|
|
|
NM_004360.5(CDH1):c.1693A>G (p.Ile565Val)
|
rs1961080115
|
|
|
NM_004360.5(CDH1):c.1696A>G (p.Ile566Val)
|
rs775941240
|
|
|
NM_004360.5(CDH1):c.1697T>G (p.Ile566Arg)
|
|
|
|
NM_004360.5(CDH1):c.169T>G (p.Phe57Val)
|
rs2152126595
|
|
|
NM_004360.5(CDH1):c.16C>A (p.Arg6Ser)
|
rs2152113958
|
|
|
NM_004360.5(CDH1):c.1700C>T (p.Ala567Val)
|
rs886041160
|
|
|
NM_004360.5(CDH1):c.1702A>G (p.Thr568Ala)
|
rs1060501242
|
|
|
NM_004360.5(CDH1):c.1702A>T (p.Thr568Ser)
|
|
|
|
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)
|
rs786202712
|
|
|
NM_004360.5(CDH1):c.1703C>T (p.Thr568Ile)
|
rs786202712
|
|
|
NM_004360.5(CDH1):c.1707C>A (p.Asp569Glu)
|
rs876660905
|
|
|
NM_004360.5(CDH1):c.1708A>C (p.Asn570His)
|
rs1567510854
|
|
|
NM_004360.5(CDH1):c.1708A>G (p.Asn570Asp)
|
rs1567510854
|
|
|
NM_004360.5(CDH1):c.1709A>G (p.Asn570Ser)
|
rs1555516592
|
|
|
NM_004360.5(CDH1):c.1711+16C>G
|
rs2152137043
|
|
|
NM_004360.5(CDH1):c.1711+2_1711+5dup
|
|
|
|
NM_004360.5(CDH1):c.1711+6G>A
|
rs1555516597
|
|
|
NM_004360.5(CDH1):c.1711G>T (p.Gly571Cys)
|
|
|
|
NM_004360.5(CDH1):c.1712-103A>G
|
|
|
|
NM_004360.5(CDH1):c.1712-127G>A
|
|
|
|
NM_004360.5(CDH1):c.1712-128C>T
|
|
|
|
NM_004360.5(CDH1):c.1712-151G>T
|
|
|
|
NM_004360.5(CDH1):c.1712-161G>A
|
|
|
|
NM_004360.5(CDH1):c.1712-168G>C
|
|
|
|
NM_004360.5(CDH1):c.1712-184A>G
|
|
|
|
NM_004360.5(CDH1):c.1712-2A>C
|
rs552325719
|
|
|
NM_004360.5(CDH1):c.1712-2A>G
|
|
|
|
NM_004360.5(CDH1):c.1712-2A>T
|
rs552325719
|
|
|
NM_004360.5(CDH1):c.1712-54dup
|
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
|
NM_004360.5(CDH1):c.1718C>T (p.Pro573Leu)
|
rs1555516819
|
|
|
NM_004360.5(CDH1):c.1720G>A (p.Val574Ile)
|
rs115934514
|
|
|
NM_004360.5(CDH1):c.1720G>T (p.Val574Phe)
|
rs115934514
|
|
|
NM_004360.5(CDH1):c.1721T>C (p.Val574Ala)
|
|
|
|
NM_004360.5(CDH1):c.1721T>G (p.Val574Gly)
|
rs1567512117
|
|
|
NM_004360.5(CDH1):c.1726A>G (p.Thr576Ala)
|
rs759536558
|
|
|
NM_004360.5(CDH1):c.1726A>T (p.Thr576Ser)
|
rs759536558
|
|
|
NM_004360.5(CDH1):c.1729G>A (p.Gly577Arg)
|
|
|
|
NM_004360.5(CDH1):c.1732A>G (p.Thr578Ala)
|
rs1596963360
|
|
|
NM_004360.5(CDH1):c.1732A>T (p.Thr578Ser)
|
rs1596963360
|
|
|
NM_004360.5(CDH1):c.1733C>A (p.Thr578Lys)
|
rs1567512135
|
|
|
NM_004360.5(CDH1):c.1733C>G (p.Thr578Arg)
|
rs1567512135
|
|
|
NM_004360.5(CDH1):c.1733C>T (p.Thr578Ile)
|
rs1567512135
|
|
|
NM_004360.5(CDH1):c.1736G>A (p.Gly579Glu)
|
rs1596963374
|
|
|
NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala)
|
rs786204155
|
|
|
NM_004360.5(CDH1):c.1739C>A (p.Thr580Lys)
|
rs1961157345
|
|
|
NM_004360.5(CDH1):c.1739C>T (p.Thr580Ile)
|
rs1961157345
|
|
|
NM_004360.5(CDH1):c.173A>T (p.Glu58Val)
|
rs786202570
|
|
|
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe)
|
rs1567512154
|
|
|
NM_004360.5(CDH1):c.1744C>A (p.Leu582Met)
|
rs1801025
|
|
|
NM_004360.5(CDH1):c.1745T>A (p.Leu582Gln)
|
rs1596963398
|
|
|
NM_004360.5(CDH1):c.1745T>G (p.Leu582Arg)
|
|
|
|
NM_004360.5(CDH1):c.1748T>G (p.Leu583Arg)
|
|
|
|
NM_004360.5(CDH1):c.1751T>A (p.Ile584Asn)
|
rs2152138212
|
|
|
NM_004360.5(CDH1):c.1753C>G (p.Leu585Val)
|
|
|
|
NM_004360.5(CDH1):c.1754T>A (p.Leu585Gln)
|
rs1596963414
|
|
|
NM_004360.5(CDH1):c.1754T>C (p.Leu585Pro)
|
rs1596963414
|
|
|
NM_004360.5(CDH1):c.1756T>C (p.Ser586Pro)
|
|
|
|
NM_004360.5(CDH1):c.1757C>A (p.Ser586Tyr)
|
rs864622599
|
|
|
NM_004360.5(CDH1):c.1766A>G (p.Asn589Ser)
|
rs1367108095
|
|
|
NM_004360.5(CDH1):c.1767T>C (p.Asn589=)
|
rs763862527
|
|
|
NM_004360.5(CDH1):c.1771A>G (p.Asn591Asp)
|
rs751291956
|
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
|
NM_004360.5(CDH1):c.1775C>A (p.Ala592Asp)
|
rs786202059
|
|
|
NM_004360.5(CDH1):c.1775C>T (p.Ala592Val)
|
|
|
|
NM_004360.5(CDH1):c.1778C>G (p.Pro593Arg)
|
rs1567512288
|
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
|
|
NM_004360.5(CDH1):c.1780A>T (p.Ile594Leu)
|
rs1206609823
|
|
|
NM_004360.5(CDH1):c.1781T>C (p.Ile594Thr)
|
rs1961160711
|
|
|
NM_004360.5(CDH1):c.1784C>A (p.Pro595Gln)
|
|
|
|
NM_004360.5(CDH1):c.1784C>G (p.Pro595Arg)
|
rs1555516843
|
|
|
NM_004360.5(CDH1):c.1786G>A (p.Glu596Lys)
|
rs1555516844
|
|
|
NM_004360.5(CDH1):c.1786G>C (p.Glu596Gln)
|
rs1555516844
|
|
|
NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)
|
rs201625049
|
|
|
NM_004360.5(CDH1):c.1789C>T (p.Pro597Ser)
|
rs201625049
|
|
|
NM_004360.5(CDH1):c.178T>C (p.Cys60Arg)
|
|
|
|
NM_004360.5(CDH1):c.1790C>T (p.Pro597Leu)
|
rs1961161092
|
|
|
NM_004360.5(CDH1):c.1792C>G (p.Arg598Gly)
|
rs121964877
|
|
|
NM_004360.5(CDH1):c.1793G>C (p.Arg598Pro)
|
rs780759537
|
|
|
NM_004360.5(CDH1):c.1795A>G (p.Thr599Ala)
|
rs2152138313
|
|
|
NM_004360.5(CDH1):c.1796C>G (p.Thr599Ser)
|
rs377302798
|
|
|
NM_004360.5(CDH1):c.1798A>G (p.Ile600Val)
|
rs1961161775
|
|
|
NM_004360.5(CDH1):c.179G>C (p.Cys60Ser)
|
rs1960504905
|
|
|
NM_004360.5(CDH1):c.17G>T (p.Arg6Leu)
|
rs746464544
|
|
|
NM_004360.5(CDH1):c.1800A>G (p.Ile600Met)
|
rs878854680
|
|
|
NM_004360.5(CDH1):c.1802TCT[1] (p.Phe602del)
|
rs587782517
|
|
|
NM_004360.5(CDH1):c.1803C>A (p.Phe601Leu)
|
rs1799444860
|
|
|
NM_004360.5(CDH1):c.1805T>C (p.Phe602Ser)
|
|
|
|
NM_004360.5(CDH1):c.1808G>A (p.Cys603Tyr)
|
rs864622612
|
|
|
NM_004360.5(CDH1):c.1808G>C (p.Cys603Ser)
|
rs864622612
|
|
|
NM_004360.5(CDH1):c.1813A>G (p.Arg605Gly)
|
rs2152138356
|
|
|
NM_004360.5(CDH1):c.1817A>G (p.Asn606Ser)
|
rs1961162483
|
|
|
NM_004360.5(CDH1):c.1819C>A (p.Pro607Thr)
|
|
|
|
NM_004360.5(CDH1):c.1819C>T (p.Pro607Ser)
|
|
|
|
NM_004360.5(CDH1):c.181A>G (p.Thr61Ala)
|
|
|
|
NM_004360.5(CDH1):c.1820C>G (p.Pro607Arg)
|
rs2152138374
|
|
|
NM_004360.5(CDH1):c.1821_1847del (p.Lys608_Asp616del)
|
|
|
|
NM_004360.5(CDH1):c.1822A>G (p.Lys608Glu)
|
|
|
|
NM_004360.5(CDH1):c.1825C>T (p.Pro609Ser)
|
rs1567512385
|
|
|
NM_004360.5(CDH1):c.1826C>T (p.Pro609Leu)
|
rs1596963588
|
|
|
NM_004360.5(CDH1):c.1828C>G (p.Gln610Glu)
|
rs2152138392
|
|
|
NM_004360.5(CDH1):c.1829A>C (p.Gln610Pro)
|
rs1555516856
|
|
|
NM_004360.5(CDH1):c.182C>T (p.Thr61Ile)
|
rs1597884542
|
|
|
NM_004360.5(CDH1):c.1832T>A (p.Val611Asp)
|
rs779351070
|
|
|
NM_004360.5(CDH1):c.1834A>G (p.Ile612Val)
|
rs786202965
|
|
|
NM_004360.5(CDH1):c.1838A>G (p.Asn613Ser)
|
rs1555516860
|
|
|
NM_004360.5(CDH1):c.1839CAT[1] (p.Ile615del)
|
rs1961163478
|
|
|
NM_004360.5(CDH1):c.1840A>G (p.Ile614Val)
|
rs587782838
|
|
|
NM_004360.5(CDH1):c.1840A>T (p.Ile614Phe)
|
|
|
|
NM_004360.5(CDH1):c.1841T>A (p.Ile614Asn)
|
rs1961163698
|
|
|
NM_004360.5(CDH1):c.1843A>T (p.Ile615Phe)
|
rs1003012321
|
|
|
NM_004360.5(CDH1):c.1849G>T (p.Ala617Ser)
|
rs33935154
|
|
|
NM_004360.5(CDH1):c.1849_1850delinsAG (p.Ala617Arg)
|
rs2152138443
|
|
|
NM_004360.5(CDH1):c.184G>C (p.Gly62Arg)
|
rs587781898
|
|
|
NM_004360.5(CDH1):c.1850C>G (p.Ala617Gly)
|
rs1596963675
|
|
|
NM_004360.5(CDH1):c.1850C>T (p.Ala617Val)
|
rs1596963675
|
|
|
NM_004360.5(CDH1):c.1855C>A (p.Leu619Ile)
|
rs876659221
|
|
|
NM_004360.5(CDH1):c.1858C>A (p.Pro620Thr)
|
rs786201888
|
|
|
NM_004360.5(CDH1):c.1858C>G (p.Pro620Ala)
|
|
|
|
NM_004360.5(CDH1):c.1859C>T (p.Pro620Leu)
|
rs1555516871
|
|
|
NM_004360.5(CDH1):c.185G>A (p.Gly62Asp)
|
rs786203727
|
|
|
NM_004360.5(CDH1):c.1861C>G (p.Pro621Ala)
|
|
|
|
NM_004360.5(CDH1):c.1861C>T (p.Pro621Ser)
|
rs1961165024
|
|
|
NM_004360.5(CDH1):c.1864A>C (p.Asn622His)
|
rs367849039
|
|
|
NM_004360.5(CDH1):c.1864A>G (p.Asn622Asp)
|
|
|
|
NM_004360.5(CDH1):c.1864A>T (p.Asn622Tyr)
|
rs367849039
|
|
|
NM_004360.5(CDH1):c.1866T>G (p.Asn622Lys)
|
rs786201678
|
|
|
NM_004360.5(CDH1):c.1867A>G (p.Thr623Ala)
|
rs1596963727
|
|
|
NM_004360.5(CDH1):c.1867A>T (p.Thr623Ser)
|
rs1596963727
|
|
|
NM_004360.5(CDH1):c.1868C>T (p.Thr623Ile)
|
rs1961165592
|
|
|
NM_004360.5(CDH1):c.1871C>T (p.Ser624Phe)
|
rs1961166045
|
|
|
NM_004360.5(CDH1):c.1874C>T (p.Pro625Leu)
|
rs1961166603
|
|
|
NM_004360.5(CDH1):c.1876T>G (p.Phe626Val)
|
rs876660603
|
|
|
NM_004360.5(CDH1):c.187C>G (p.Arg63Gly)
|
|
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
|
NM_004360.5(CDH1):c.188G>C (p.Arg63Pro)
|
|
|
|
NM_004360.5(CDH1):c.1894C>T (p.His632Tyr)
|
rs1961168795
|
|
|
NM_004360.5(CDH1):c.1895A>G (p.His632Arg)
|
rs1555516892
|
|
|
NM_004360.5(CDH1):c.1895A>T (p.His632Leu)
|
|
|
|
NM_004360.5(CDH1):c.1896C>G (p.His632Gln)
|
rs33969373
|
|
|
NM_004360.5(CDH1):c.1898G>A (p.Gly633Glu)
|
rs587782850
|
|
|
NM_004360.5(CDH1):c.1900G>T (p.Ala634Ser)
|
rs1060501240
|
|
|
NM_004360.5(CDH1):c.1901C>A (p.Ala634Glu)
|
|
|
|
NM_004360.5(CDH1):c.1907C>T (p.Ala636Val)
|
rs1555516894
|
|
|
NM_004360.5(CDH1):c.1910A>G (p.Asn637Ser)
|
|
|
|
NM_004360.5(CDH1):c.1914G>C (p.Trp638Cys)
|
rs1961170989
|
|
|
NM_004360.5(CDH1):c.1915A>G (p.Thr639Ala)
|
rs1555516895
|
|
|
NM_004360.5(CDH1):c.1916C>T (p.Thr639Ile)
|
rs1961171304
|
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
|
NM_004360.5(CDH1):c.1918A>G (p.Ile640Val)
|
|
|
|
NM_004360.5(CDH1):c.1922A>G (p.Gln641Arg)
|
rs876660113
|
|
|
NM_004360.5(CDH1):c.1925A>T (p.Tyr642Phe)
|
rs2152138609
|
|
|
NM_004360.5(CDH1):c.1927A>C (p.Asn643His)
|
rs587781540
|
|
|
NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp)
|
rs587781540
|
|
|
NM_004360.5(CDH1):c.1928A>G (p.Asn643Ser)
|
rs1567512606
|
|
|
NM_004360.5(CDH1):c.1929C>A (p.Asn643Lys)
|
rs374152504
|
|
|
NM_004360.5(CDH1):c.1930G>C (p.Asp644His)
|
|
|
|
NM_004360.5(CDH1):c.1932C>A (p.Asp644Glu)
|
rs1596963973
|
|
|
NM_004360.5(CDH1):c.1935A>G (p.Pro645=)
|
|
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
|
NM_004360.5(CDH1):c.1936+5G>C
|
rs1567512631
|
|
|
NM_004360.5(CDH1):c.1936+5del
|
rs1596963998
|
|
|
NM_004360.5(CDH1):c.1936+9C>G
|
|
|
|
NM_004360.5(CDH1):c.1937-111C>A
|
|
|
|
NM_004360.5(CDH1):c.1937-29T>C
|
|
|
|
NM_004360.5(CDH1):c.1937-37C>G
|
|
|
|
NM_004360.5(CDH1):c.1937-3C>T
|
|
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
|
NM_004360.5(CDH1):c.1937C>G (p.Thr646Ser)
|
rs1331707958
|
|
|
NM_004360.5(CDH1):c.1937C>T (p.Thr646Ile)
|
rs1331707958
|
|
|
NM_004360.5(CDH1):c.1939C>G (p.Gln647Glu)
|
|
|
|
NM_004360.5(CDH1):c.1942G>A (p.Glu648Lys)
|
rs971882211
|
|
|
NM_004360.5(CDH1):c.1944A>T (p.Glu648Asp)
|
rs1596965497
|
|
|
NM_004360.5(CDH1):c.1948A>G (p.Ile650Val)
|
rs1555517077
|
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
|
NM_004360.5(CDH1):c.1951A>G (p.Ile651Val)
|
rs876660503
|
|
|
NM_004360.5(CDH1):c.1951A>T (p.Ile651Phe)
|
rs876660503
|
|
|
NM_004360.5(CDH1):c.1952T>C (p.Ile651Thr)
|
rs1555517080
|
|
|
NM_004360.5(CDH1):c.1955T>C (p.Leu652Ser)
|
rs1567513174
|
|
|
NM_004360.5(CDH1):c.1955T>G (p.Leu652Trp)
|
rs1567513174
|
|
|
NM_004360.5(CDH1):c.1956G>C (p.Leu652Phe)
|
|
|
|
NM_004360.5(CDH1):c.1956G>T (p.Leu652Phe)
|
|
|
|
NM_004360.5(CDH1):c.1958A>C (p.Lys653Thr)
|
rs1555517084
|
|
|
NM_004360.5(CDH1):c.1958A>G (p.Lys653Arg)
|
rs1555517084
|
|
|
NM_004360.5(CDH1):c.1959G>T (p.Lys653Asn)
|
rs1596965552
|
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
|
NM_004360.5(CDH1):c.1963A>G (p.Lys655Glu)
|
rs2152139278
|
|
|
NM_004360.5(CDH1):c.1965G>C (p.Lys655Asn)
|
rs1961225123
|
|
|
NM_004360.5(CDH1):c.1966A>G (p.Met656Val)
|
|
|
|
NM_004360.5(CDH1):c.1969G>T (p.Ala657Ser)
|
rs1961225323
|
|
|
NM_004360.5(CDH1):c.196A>G (p.Thr66Ala)
|
rs2152126653
|
|
|
NM_004360.5(CDH1):c.1976A>G (p.Glu659Gly)
|
rs1961225880
|
|
|
NM_004360.5(CDH1):c.1976_1978del (p.Glu659del)
|
|
|
|
NM_004360.5(CDH1):c.1978G>A (p.Val660Met)
|
rs769844369
|
|
|
NM_004360.5(CDH1):c.1979T>A (p.Val660Glu)
|
rs1555517090
|
|
|
NM_004360.5(CDH1):c.1979T>C (p.Val660Ala)
|
rs1555517090
|
|
|
NM_004360.5(CDH1):c.1982G>A (p.Gly661Asp)
|
rs756092625
|
|
|
NM_004360.5(CDH1):c.1984G>A (p.Asp662Asn)
|
rs1596965647
|
|
|
NM_004360.5(CDH1):c.1984G>T (p.Asp662Tyr)
|
rs1596965647
|
|
|
NM_004360.5(CDH1):c.1985A>G (p.Asp662Gly)
|
|
|
|
NM_004360.5(CDH1):c.1985A>T (p.Asp662Val)
|
rs1961226929
|
|
|
NM_004360.5(CDH1):c.1990A>C (p.Lys664Gln)
|
rs1275496047
|
|
|
NM_004360.5(CDH1):c.1991A>G (p.Lys664Arg)
|
rs1436479908
|
|
|
NM_004360.5(CDH1):c.1993A>G (p.Ile665Val)
|
rs864622503
|
|
|
NM_004360.5(CDH1):c.1997A>G (p.Asn666Ser)
|
|
|
|
NM_004360.5(CDH1):c.1998T>A (p.Asn666Lys)
|
rs1167042883
|
|
|
NM_004360.5(CDH1):c.1999C>A (p.Leu667Ile)
|
rs1567513251
|
|
|
NM_004360.5(CDH1):c.1999C>T (p.Leu667Phe)
|
rs1567513251
|
|
|
NM_004360.5(CDH1):c.19A>G (p.Ser7Gly)
|
|
|
|
NM_004360.5(CDH1):c.2003A>G (p.Lys668Arg)
|
|
|
|
NM_004360.5(CDH1):c.2005C>A (p.Leu669Ile)
|
rs1490366214
|
|
|
NM_004360.5(CDH1):c.2005C>G (p.Leu669Val)
|
rs1490366214
|
|
|
NM_004360.5(CDH1):c.2005C>T (p.Leu669Phe)
|
rs1490366214
|
|
|
NM_004360.5(CDH1):c.2008A>G (p.Met670Val)
|
rs876660107
|
|
|
NM_004360.5(CDH1):c.2008A>T (p.Met670Leu)
|
|
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
|
NM_004360.5(CDH1):c.2010G>A (p.Met670Ile)
|
rs2152139379
|
|
|
NM_004360.5(CDH1):c.2015A>G (p.Asn672Ser)
|
rs2152139391
|
|
|
NM_004360.5(CDH1):c.2019G>C (p.Gln673His)
|
rs1596965752
|
|
|
NM_004360.5(CDH1):c.2023A>G (p.Lys675Glu)
|
|
|
|
NM_004360.5(CDH1):c.2024A>G (p.Lys675Arg)
|
rs876660230
|
|
|
NM_004360.5(CDH1):c.2026G>T (p.Asp676Tyr)
|
rs115408226
|
|
|
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)
|
rs1555517099
|
|
|
NM_004360.5(CDH1):c.202T>C (p.Tyr68His)
|
rs1060501218
|
|
|
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)
|
rs1060501218
|
|
|
NM_004360.5(CDH1):c.2032G>A (p.Val678Met)
|
rs764788846
|
|
|
NM_004360.5(CDH1):c.2035A>G (p.Thr679Ala)
|
|
|
|
NM_004360.5(CDH1):c.2036C>A (p.Thr679Asn)
|
rs1961229985
|
|
|
NM_004360.5(CDH1):c.2036C>G (p.Thr679Ser)
|
|
|
|
NM_004360.5(CDH1):c.2038A>C (p.Thr680Pro)
|
|
|
|
NM_004360.5(CDH1):c.2038A>G (p.Thr680Ala)
|
rs876658936
|
|
|
NM_004360.5(CDH1):c.2039C>T (p.Thr680Ile)
|
|
|
|
NM_004360.5(CDH1):c.2046G>T (p.Glu682Asp)
|
rs753209043
|
|
|
NM_004360.5(CDH1):c.2047G>A (p.Val683Ile)
|
|
|
|
NM_004360.5(CDH1):c.2047G>T (p.Val683Phe)
|
rs758872535
|
|
|
NM_004360.5(CDH1):c.2051G>A (p.Ser684Asn)
|
|
|
|
NM_004360.5(CDH1):c.2052C>A (p.Ser684Arg)
|
rs764379691
|
|
|
NM_004360.5(CDH1):c.2053G>C (p.Val685Leu)
|
rs550612843
|
|
|
NM_004360.5(CDH1):c.2056T>C (p.Cys686Arg)
|
|
|
|
NM_004360.5(CDH1):c.2068G>A (p.Gly690Arg)
|
|
|
|
NM_004360.5(CDH1):c.2069G>A (p.Gly690Glu)
|
rs1272471005
|
|
|
NM_004360.5(CDH1):c.2072C>T (p.Ala691Val)
|
rs569086883
|
|
|
NM_004360.5(CDH1):c.2075C>T (p.Ala692Val)
|
rs1961232395
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
|
NM_004360.5(CDH1):c.2084G>A (p.Cys695Tyr)
|
rs1961233403
|
|
|
NM_004360.5(CDH1):c.2084G>T (p.Cys695Phe)
|
|
|
|
NM_004360.5(CDH1):c.2086A>G (p.Arg696Gly)
|
|
|
|
NM_004360.5(CDH1):c.2087G>A (p.Arg696Lys)
|
rs1596965963
|
|
|
NM_004360.5(CDH1):c.2088G>T (p.Arg696Ser)
|
|
|
|
NM_004360.5(CDH1):c.2089A>G (p.Lys697Glu)
|
rs1555517126
|
|
|
NM_004360.5(CDH1):c.208T>A (p.Ser70Thr)
|
rs587781862
|
|
|
NM_004360.5(CDH1):c.208T>C (p.Ser70Pro)
|
rs587781862
|
|
|
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg)
|
rs1961233865
|
|
|
NM_004360.5(CDH1):c.2092G>T (p.Ala698Ser)
|
rs1167040681
|
|
|
NM_004360.5(CDH1):c.2093C>T (p.Ala698Val)
|
rs1064795359
|
|
|
NM_004360.5(CDH1):c.2097G>T (p.Gln699His)
|
rs2152139545
|
|
|
NM_004360.5(CDH1):c.2098C>G (p.Pro700Ala)
|
rs878854681
|
|
|
NM_004360.5(CDH1):c.209C>A (p.Ser70Tyr)
|
|
|
|
NM_004360.5(CDH1):c.2101G>A (p.Val701Ile)
|
rs1426734014
|
|
|
NM_004360.5(CDH1):c.2104G>C (p.Glu702Gln)
|
rs149127230
|
|
|
NM_004360.5(CDH1):c.2108C>G (p.Ala703Gly)
|
|
|
|
NM_004360.5(CDH1):c.2110G>A (p.Gly704Arg)
|
rs1567513430
|
|
|
NM_004360.5(CDH1):c.2110G>C (p.Gly704Arg)
|
rs1567513430
|
|
|
NM_004360.5(CDH1):c.2111G>A (p.Gly704Glu)
|
rs2152139577
|
|
|
NM_004360.5(CDH1):c.2111G>T (p.Gly704Val)
|
rs2152139577
|
|
|
NM_004360.5(CDH1):c.2115G>T (p.Leu705Phe)
|
rs759256066
|
|
|
NM_004360.5(CDH1):c.2117A>G (p.Gln706Arg)
|
rs587781401
|
|
|
NM_004360.5(CDH1):c.211C>A (p.Leu71Ile)
|
rs1555514408
|
|
|
NM_004360.5(CDH1):c.211C>T (p.Leu71Phe)
|
rs1555514408
|
|
|
NM_004360.5(CDH1):c.2122C>A (p.Pro708Thr)
|
rs1060501233
|
|
|
NM_004360.5(CDH1):c.2122C>T (p.Pro708Ser)
|
rs1060501233
|
|
|
NM_004360.5(CDH1):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_004360.5(CDH1):c.2125G>T (p.Ala709Ser)
|
|
|
|
NM_004360.5(CDH1):c.2126C>T (p.Ala709Val)
|
rs2152139610
|
|
|
NM_004360.5(CDH1):c.2128A>C (p.Ile710Leu)
|
rs876660625
|
|
|
NM_004360.5(CDH1):c.2130T>G (p.Ile710Met)
|
rs1961236313
|
|
|
NM_004360.5(CDH1):c.2132T>C (p.Leu711Pro)
|
|
|
|
NM_004360.5(CDH1):c.2133G>A (p.Leu711=)
|
rs2152139627
|
|
|
NM_004360.5(CDH1):c.2135G>C (p.Gly712Ala)
|
|
|
|
NM_004360.5(CDH1):c.2137A>T (p.Ile713Phe)
|
rs1289236005
|
|
|
NM_004360.5(CDH1):c.2138T>C (p.Ile713Thr)
|
rs1567513466
|
|
|
NM_004360.5(CDH1):c.2139_2140inv (p.Ile713_Leu714delinsMetIle)
|
|
|
|
NM_004360.5(CDH1):c.2141T>A (p.Leu714His)
|
|
|
|
NM_004360.5(CDH1):c.2141T>C (p.Leu714Pro)
|
rs2152139650
|
|
|
NM_004360.5(CDH1):c.214G>C (p.Asp72His)
|
rs35606263
|
|
|
NM_004360.5(CDH1):c.2150T>C (p.Ile717Thr)
|
rs1596966137
|
|
|
NM_004360.5(CDH1):c.2152C>A (p.Leu718Ile)
|
rs876658591
|
|
|
NM_004360.5(CDH1):c.2152C>G (p.Leu718Val)
|
rs876658591
|
|
|
NM_004360.5(CDH1):c.215A>T (p.Asp72Val)
|
|
|
|
NM_004360.5(CDH1):c.2160G>T (p.Leu720Phe)
|
|
|
|
NM_004360.5(CDH1):c.2163A>G (p.Leu721=)
|
rs767867011
|
|
|
NM_004360.5(CDH1):c.2164+15C>T
|
rs777904889
|
|
|
NM_004360.5(CDH1):c.2164+3_2164+6del
|
rs1415253676
|
|
|
NM_004360.5(CDH1):c.2164+4A>C
|
rs1961238672
|
|
|
NM_004360.5(CDH1):c.2164A>C (p.Ile722Leu)
|
rs1596966182
|
|
|
NM_004360.5(CDH1):c.2165-111G>C
|
|
|
|
NM_004360.5(CDH1):c.2165-12C>G
|
rs760834250
|
|
|
NM_004360.5(CDH1):c.2165-59C>T
|
|
|
|
NM_004360.5(CDH1):c.2165-5C>T
|
rs1567515317
|
|
|
NM_004360.5(CDH1):c.2165-9C>G
|
|
|
|
NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)
|
rs878854682
|
|
|
NM_004360.5(CDH1):c.2168T>C (p.Leu723Pro)
|
|
|
|
NM_004360.5(CDH1):c.2174T>G (p.Leu725Arg)
|
rs2152141384
|
|
|
NM_004360.5(CDH1):c.2184G>T (p.Leu728Phe)
|
rs1961373863
|
|
|
NM_004360.5(CDH1):c.2185C>A (p.Leu729Met)
|
rs2152141393
|
|
|
NM_004360.5(CDH1):c.2185C>G (p.Leu729Val)
|
|
|
|
NM_004360.5(CDH1):c.2185C>T (p.Leu729=)
|
|
|
|
NM_004360.5(CDH1):c.2186T>C (p.Leu729Pro)
|
rs1567515336
|
|
|
NM_004360.5(CDH1):c.218C>A (p.Thr73Asn)
|
rs1555514410
|
|
|
NM_004360.5(CDH1):c.218C>G (p.Thr73Ser)
|
|
|
|
NM_004360.5(CDH1):c.2191C>T (p.Leu731Phe)
|
rs1060501235
|
|
|
NM_004360.5(CDH1):c.2194C>G (p.Arg732Gly)
|
|
|
|
NM_004360.5(CDH1):c.2198G>A (p.Arg733Lys)
|
rs2152141417
|
|
|
NM_004360.5(CDH1):c.2199G>T (p.Arg733Ser)
|
rs1555517637
|
|
|
NM_004360.5(CDH1):c.2201G>A (p.Arg734Lys)
|
rs587781859
|
|
|
NM_004360.5(CDH1):c.2201G>T (p.Arg734Ile)
|
rs587781859
|
|
|
NM_004360.5(CDH1):c.2203G>A (p.Ala735Thr)
|
|
|
|
NM_004360.5(CDH1):c.2204C>A (p.Ala735Glu)
|
rs587782464
|
|
|
NM_004360.5(CDH1):c.2204C>G (p.Ala735Gly)
|
rs587782464
|
|
|
NM_004360.5(CDH1):c.2205G>A (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2206G>A (p.Val736Met)
|
|
|
|
NM_004360.5(CDH1):c.2207T>C (p.Val736Ala)
|
rs1596970752
|
|
|
NM_004360.5(CDH1):c.2213A>G (p.Lys738Arg)
|
rs768163102
|
|
|
NM_004360.5(CDH1):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_004360.5(CDH1):c.2216A>G (p.Glu739Gly)
|
rs1555517647
|
|
|
NM_004360.5(CDH1):c.2216A>T (p.Glu739Val)
|
rs1555517647
|
|
|
NM_004360.5(CDH1):c.2218C>A (p.Pro740Thr)
|
rs773795943
|
|
|
NM_004360.5(CDH1):c.2218C>G (p.Pro740Ala)
|
rs773795943
|
|
|
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser)
|
rs773795943
|
|
|
NM_004360.5(CDH1):c.221G>C (p.Arg74Pro)
|
rs761562625
|
|
|
NM_004360.5(CDH1):c.221G>T (p.Arg74Leu)
|
rs761562625
|
|
|
NM_004360.5(CDH1):c.2224C>G (p.Leu742Val)
|
|
|
|
NM_004360.5(CDH1):c.2225T>G (p.Leu742Arg)
|
rs1961377163
|
|
|
NM_004360.5(CDH1):c.2227C>A (p.Pro743Thr)
|
rs786203005
|
|
|
NM_004360.5(CDH1):c.2227C>G (p.Pro743Ala)
|
rs786203005
|
|
|
NM_004360.5(CDH1):c.2227C>T (p.Pro743Ser)
|
rs786203005
|
|
|
NM_004360.5(CDH1):c.2230C>A (p.Pro744Thr)
|
rs761146693
|
|
|
NM_004360.5(CDH1):c.2230C>T (p.Pro744Ser)
|
|
|
|
NM_004360.5(CDH1):c.2231C>G (p.Pro744Arg)
|
rs1001200905
|
|
|
NM_004360.5(CDH1):c.2231C>T (p.Pro744Leu)
|
rs1001200905
|
|
|
NM_004360.5(CDH1):c.2233G>A (p.Glu745Lys)
|
rs1596970862
|
|
|
NM_004360.5(CDH1):c.2235G>T (p.Glu745Asp)
|
rs1267384637
|
|
|
NM_004360.5(CDH1):c.2236G>A (p.Asp746Asn)
|
rs766636655
|
|
|
NM_004360.5(CDH1):c.2237A>G (p.Asp746Gly)
|
rs1408841952
|
|
|
NM_004360.5(CDH1):c.223T>C (p.Phe75Leu)
|
rs587782193
|
|
|
NM_004360.5(CDH1):c.2240A>G (p.Asp747Gly)
|
rs1060501222
|
|
|
NM_004360.5(CDH1):c.2241C>A (p.Asp747Glu)
|
rs1961378823
|
|
|
NM_004360.5(CDH1):c.2243C>A (p.Thr748Asn)
|
rs1555517660
|
|
|
NM_004360.5(CDH1):c.2243C>G (p.Thr748Ser)
|
rs1555517660
|
|
|
NM_004360.5(CDH1):c.2243C>T (p.Thr748Ile)
|
rs1555517660
|
|
|
NM_004360.5(CDH1):c.2245C>G (p.Arg749Gly)
|
|
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
|
NM_004360.5(CDH1):c.2248G>A (p.Asp750Asn)
|
rs1567515435
|
|
|
NM_004360.5(CDH1):c.2251_2253del (p.Asn751del)
|
rs2152141513
|
|
|
NM_004360.5(CDH1):c.2253C>G (p.Asn751Lys)
|
rs33964119
|
|
|
NM_004360.5(CDH1):c.2258A>G (p.Tyr753Cys)
|
rs1596970973
|
|
|
NM_004360.5(CDH1):c.2263T>C (p.Tyr755His)
|
rs1961380635
|
|
|
NM_004360.5(CDH1):c.2266G>C (p.Asp756His)
|
rs1555517677
|
|
|
NM_004360.5(CDH1):c.2266G>T (p.Asp756Tyr)
|
|
|
|
NM_004360.5(CDH1):c.2267A>G (p.Asp756Gly)
|
rs2152141545
|
|
|
NM_004360.5(CDH1):c.2268T>A (p.Asp756Glu)
|
rs1567515480
|
|
|
NM_004360.5(CDH1):c.2269G>A (p.Glu757Lys)
|
rs1064794232
|
|
|
NM_004360.5(CDH1):c.2270AAG[1] (p.Glu758del)
|
rs876661070
|
|
|
NM_004360.5(CDH1):c.2273A>G (p.Glu758Gly)
|
rs2152141559
|
|
|
NM_004360.5(CDH1):c.2274_2288del (p.Gly759_Glu763del)
|
rs2152141551
|
|
|
NM_004360.5(CDH1):c.2278G>A (p.Gly760Ser)
|
rs1961382208
|
|
|
NM_004360.5(CDH1):c.227A>G (p.Lys76Arg)
|
rs1597884664
|
|
|
NM_004360.5(CDH1):c.2281G>C (p.Gly761Arg)
|
|
|
|
NM_004360.5(CDH1):c.2282G>A (p.Gly761Glu)
|
rs876659664
|
|
|
NM_004360.5(CDH1):c.2282G>C (p.Gly761Ala)
|
rs876659664
|
|
|
NM_004360.5(CDH1):c.2282G>T (p.Gly761Val)
|
rs876659664
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2284G>A (p.Glu762Lys)
|
|
|
|
NM_004360.5(CDH1):c.2285A>T (p.Glu762Val)
|
|
|
|
NM_004360.5(CDH1):c.2286A>G (p.Glu762=)
|
rs1555517684
|
|
|
NM_004360.5(CDH1):c.2291A>G (p.Asp764Gly)
|
rs1555517687
|
|
|
NM_004360.5(CDH1):c.2291A>T (p.Asp764Val)
|
rs1555517687
|
|
|
NM_004360.5(CDH1):c.2292C>A (p.Asp764Glu)
|
rs61747636
|
|
|
NM_004360.5(CDH1):c.2294A>T (p.Gln765Leu)
|
|
|
|
NM_004360.5(CDH1):c.2295+3G>A
|
rs786203544
|
|
|
NM_004360.5(CDH1):c.2295+45C>T
|
|
|
|
NM_004360.5(CDH1):c.2295+46G>A
|
|
|
|
NM_004360.5(CDH1):c.2295+4G>A
|
rs1961384041
|
|
|
NM_004360.5(CDH1):c.2295+4_2439+1343del
|
|
|
|
NM_004360.5(CDH1):c.2295+5G>A
|
|
|
|
NM_004360.5(CDH1):c.2295+6T>C
|
rs1961384148
|
|
|
NM_004360.5(CDH1):c.2295G>A (p.Gln765=)
|
rs1961383748
|
|
|
NM_004360.5(CDH1):c.2296-16_2296-4del
|
rs2152142187
|
|
|
NM_004360.5(CDH1):c.2296-17A>G
|
rs2152142185
|
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
|
NM_004360.5(CDH1):c.2296-3A>T
|
rs113067020
|
|
|
NM_004360.5(CDH1):c.2296-41T>C
|
|
|
|
NM_004360.5(CDH1):c.2296-42C>G
|
|
|
|
NM_004360.5(CDH1):c.2296-60C>A
|
|
|
|
NM_004360.5(CDH1):c.2296G>C (p.Asp766His)
|
rs1471460728
|
|
|
NM_004360.5(CDH1):c.2296G>T (p.Asp766Tyr)
|
rs1471460728
|
|
|
NM_004360.5(CDH1):c.2299T>A (p.Phe767Ile)
|
rs2152142212
|
|
|
NM_004360.5(CDH1):c.229G>A (p.Val77Met)
|
rs1597884672
|
|
|
NM_004360.5(CDH1):c.22C>T (p.Leu8Phe)
|
rs1234138761
|
|
|
NM_004360.5(CDH1):c.2305T>G (p.Leu769Val)
|
rs766222121
|
|
|
NM_004360.5(CDH1):c.2307G>C (p.Leu769Phe)
|
rs1596972367
|
|
|
NM_004360.5(CDH1):c.2308A>G (p.Ser770Gly)
|
rs1961424317
|
|
|
NM_004360.5(CDH1):c.2309G>A (p.Ser770Asn)
|
|
|
|
NM_004360.5(CDH1):c.230T>C (p.Val77Ala)
|
rs2152126731
|
|
|
NM_004360.5(CDH1):c.2312A>G (p.Gln771Arg)
|
rs1182000968
|
|
|
NM_004360.5(CDH1):c.2313G>T (p.Gln771His)
|
|
|
|
NM_004360.5(CDH1):c.2315T>A (p.Leu772Gln)
|
|
|
|
NM_004360.5(CDH1):c.2315T>C (p.Leu772Pro)
|
rs1596972390
|
|
|
NM_004360.5(CDH1):c.2317C>T (p.His773Tyr)
|
rs1555517823
|
|
|
NM_004360.5(CDH1):c.231G>A (p.Val77=)
|
rs1446769308
|
|
|
NM_004360.5(CDH1):c.2321G>A (p.Arg774Lys)
|
rs1596972434
|
|
|
NM_004360.5(CDH1):c.2323G>A (p.Gly775Ser)
|
rs1163417116
|
|
|
NM_004360.5(CDH1):c.2324G>T (p.Gly775Val)
|
rs778581202
|
|
|
NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)
|
rs2152142271
|
|
|
NM_004360.5(CDH1):c.232G>A (p.Gly78Ser)
|
rs864622477
|
|
|
NM_004360.5(CDH1):c.2330A>T (p.Asp777Val)
|
rs1961426295
|
|
|
NM_004360.5(CDH1):c.2331C>A (p.Asp777Glu)
|
|
|
|
NM_004360.5(CDH1):c.2331C>G (p.Asp777Glu)
|
rs114265540
|
|
|
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val)
|
rs876659951
|
|
|
NM_004360.5(CDH1):c.2336G>C (p.Arg779Pro)
|
rs587781311
|
|
|
NM_004360.5(CDH1):c.2339C>T (p.Pro780Leu)
|
rs1555517841
|
|
|
NM_004360.5(CDH1):c.233G>C (p.Gly78Ala)
|
rs587781404
|
|
|
NM_004360.5(CDH1):c.233G>T (p.Gly78Val)
|
rs587781404
|
|
|
NM_004360.5(CDH1):c.2344G>A (p.Val782Met)
|
rs2152142305
|
|
|
NM_004360.5(CDH1):c.2345T>C (p.Val782Ala)
|
rs746274636
|
|
|
NM_004360.5(CDH1):c.2347A>G (p.Thr783Ala)
|
rs2152142308
|
|
|
NM_004360.5(CDH1):c.2350C>G (p.Arg784Gly)
|
|
|
|
NM_004360.5(CDH1):c.2351G>C (p.Arg784Pro)
|
rs763203357
|
|
|
NM_004360.5(CDH1):c.2351G>T (p.Arg784Leu)
|
|
|
|
NM_004360.5(CDH1):c.2354A>G (p.Asn785Ser)
|
rs2152142322
|
|
|
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn)
|
rs876659218
|
|
|
NM_004360.5(CDH1):c.2357A>G (p.Asp786Gly)
|
rs1961428463
|
|
|
NM_004360.5(CDH1):c.2358C>A (p.Asp786Glu)
|
|
|
|
NM_004360.5(CDH1):c.2359G>T (p.Val787Phe)
|
rs766270336
|
|
|
NM_004360.5(CDH1):c.235A>G (p.Thr79Ala)
|
rs745327620
|
|
|
NM_004360.5(CDH1):c.2365C>G (p.Pro789Ala)
|
rs1961429193
|
|
|
NM_004360.5(CDH1):c.2365C>T (p.Pro789Ser)
|
rs1961429193
|
|
|
NM_004360.5(CDH1):c.2366C>T (p.Pro789Leu)
|
rs1567516121
|
|
|
NM_004360.5(CDH1):c.2368A>G (p.Thr790Ala)
|
rs1596972607
|
|
|
NM_004360.5(CDH1):c.2369C>A (p.Thr790Asn)
|
rs587780120
|
|
|
NM_004360.5(CDH1):c.236C>G (p.Thr79Arg)
|
rs876658359
|
|
|
NM_004360.5(CDH1):c.2374A>C (p.Met792Leu)
|
rs759380419
|
|
|
NM_004360.5(CDH1):c.2374A>G (p.Met792Val)
|
rs759380419
|
|
|
NM_004360.5(CDH1):c.2375T>C (p.Met792Thr)
|
rs752349229
|
|
|
NM_004360.5(CDH1):c.2376G>C (p.Met792Ile)
|
rs1596972662
|
|
|
NM_004360.5(CDH1):c.2377A>G (p.Ser793Gly)
|
rs2152142360
|
|
|
NM_004360.5(CDH1):c.2378G>A (p.Ser793Asn)
|
|
|
|
NM_004360.5(CDH1):c.2381T>C (p.Val794Ala)
|
rs1447544874
|
|
|
NM_004360.5(CDH1):c.2384C>G (p.Pro795Arg)
|
rs1555517888
|
|
|
NM_004360.5(CDH1):c.2384C>T (p.Pro795Leu)
|
rs1555517888
|
|
|
NM_004360.5(CDH1):c.2386C>A (p.Arg796=)
|
rs777363517
|
|
|
NM_004360.5(CDH1):c.238G>C (p.Asp80His)
|
rs1555514423
|
|
|
NM_004360.5(CDH1):c.2390A>G (p.Tyr797Cys)
|
rs587782394
|
|
|
NM_004360.5(CDH1):c.2392C>T (p.Leu798Phe)
|
|
|
|
NM_004360.5(CDH1):c.2393T>C (p.Leu798Pro)
|
rs2152142399
|
|
|
NM_004360.5(CDH1):c.2395C>A (p.Pro799Thr)
|
|
|
|
NM_004360.5(CDH1):c.2395C>T (p.Pro799Ser)
|
rs1596972749
|
|
|
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)
|
rs587781335
|
|
|
NM_004360.5(CDH1):c.2399G>T (p.Arg800Leu)
|
rs370345996
|
|
|
NM_004360.5(CDH1):c.239A>T (p.Asp80Val)
|
rs2152126752
|
|
|
NM_004360.5(CDH1):c.2401C>G (p.Pro801Ala)
|
rs876660704
|
|
|
NM_004360.5(CDH1):c.2404G>A (p.Ala802Thr)
|
rs2152142424
|
|
|
NM_004360.5(CDH1):c.2405C>A (p.Ala802Asp)
|
rs1596972797
|
|
|
NM_004360.5(CDH1):c.2405C>G (p.Ala802Gly)
|
rs1596972797
|
|
|
NM_004360.5(CDH1):c.2407A>G (p.Asn803Asp)
|
rs780510260
|
|
|
NM_004360.5(CDH1):c.2408A>G (p.Asn803Ser)
|
|
|
|
NM_004360.5(CDH1):c.2411C>A (p.Pro804His)
|
rs1596972823
|
|
|
NM_004360.5(CDH1):c.2413G>C (p.Asp805His)
|
rs200894246
|
|
|
NM_004360.5(CDH1):c.2413_2414delinsAG (p.Asp805Ser)
|
rs1961433417
|
|
|
NM_004360.5(CDH1):c.2414A>T (p.Asp805Val)
|
rs1481419710
|
|
|
NM_004360.5(CDH1):c.2415T>G (p.Asp805Glu)
|
rs2152142443
|
|
|
NM_004360.5(CDH1):c.2417A>G (p.Glu806Gly)
|
rs2152142446
|
|
|
NM_004360.5(CDH1):c.241G>A (p.Gly81Ser)
|
rs1060501225
|
|
|
NM_004360.5(CDH1):c.241G>C (p.Gly81Arg)
|
|
|
|
NM_004360.5(CDH1):c.241G>T (p.Gly81Cys)
|
|
|
|
NM_004360.5(CDH1):c.2420T>C (p.Ile807Thr)
|
rs1961433736
|
|
|
NM_004360.5(CDH1):c.2423G>A (p.Gly808Glu)
|
|
|
|
NM_004360.5(CDH1):c.2427T>G (p.Asn809Lys)
|
rs772173832
|
|
|
NM_004360.5(CDH1):c.2428T>C (p.Phe810Leu)
|
rs1178559383
|
|
|
NM_004360.5(CDH1):c.2429T>G (p.Phe810Cys)
|
rs1236811420
|
|
|
NM_004360.5(CDH1):c.242G>A (p.Gly81Asp)
|
rs1960510759
|
|
|
NM_004360.5(CDH1):c.242G>T (p.Gly81Val)
|
rs1960510759
|
|
|
NM_004360.5(CDH1):c.2431A>G (p.Ile811Val)
|
rs1555517917
|
|
|
NM_004360.5(CDH1):c.2432T>C (p.Ile811Thr)
|
rs1555517918
|
|
|
NM_004360.5(CDH1):c.2435A>C (p.Asp812Ala)
|
|
|
|
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)
|
rs878854684
|
|
|
NM_004360.5(CDH1):c.2438A>G (p.Glu813Gly)
|
rs1596972922
|
|
|
NM_004360.5(CDH1):c.2439+10C>A
|
|
|
|
NM_004360.5(CDH1):c.2439+3A>G
|
|
|
|
NM_004360.5(CDH1):c.2439+45C>G
|
|
|
|
NM_004360.5(CDH1):c.2439+4A>T
|
|
|
|
NM_004360.5(CDH1):c.2439+4_2439+5dup
|
rs1961435319
|
|
|
NM_004360.5(CDH1):c.2439+53G>A
|
|
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
|
NM_004360.5(CDH1):c.2440-118G>A
|
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
|
NM_004360.5(CDH1):c.2440-1G>T
|
rs1596976101
|
|
|
NM_004360.5(CDH1):c.2440-3T>C
|
|
|
|
NM_004360.5(CDH1):c.2440-52A>G
|
|
|
|
NM_004360.5(CDH1):c.2440A>G (p.Asn814Asp)
|
rs2152143825
|
|
|
NM_004360.5(CDH1):c.2441A>G (p.Asn814Ser)
|
|
|
|
NM_004360.5(CDH1):c.2444T>G (p.Leu815Arg)
|
rs1596976107
|
|
|
NM_004360.5(CDH1):c.2446A>G (p.Lys816Glu)
|
rs1555518211
|
|
|
NM_004360.5(CDH1):c.2447A>T (p.Lys816Ile)
|
rs1961532809
|
|
|
NM_004360.5(CDH1):c.2449G>A (p.Ala817Thr)
|
|
|
|
NM_004360.5(CDH1):c.2449G>C (p.Ala817Pro)
|
|
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NM_004360.5(CDH1):c.244G>T (p.Val82Leu)
|
rs1064793867
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NM_004360.5(CDH1):c.2450C>A (p.Ala817Glu)
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NM_004360.5(CDH1):c.245T>A (p.Val82Glu)
|
rs942284129
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NM_004360.5(CDH1):c.2464C>G (p.Pro822Ala)
|
rs876660086
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NM_004360.5(CDH1):c.2465C>G (p.Pro822Arg)
|
rs1555518215
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NM_004360.5(CDH1):c.2465C>T (p.Pro822Leu)
|
rs1555518215
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NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
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NM_004360.5(CDH1):c.2468C>T (p.Thr823Ile)
|
rs1961533891
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NM_004360.5(CDH1):c.2471C>A (p.Ala824Asp)
|
rs1450920019
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NM_004360.5(CDH1):c.2471C>T (p.Ala824Val)
|
rs1450920019
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NM_004360.5(CDH1):c.2476C>A (p.Pro826Thr)
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NM_004360.5(CDH1):c.2476C>T (p.Pro826Ser)
|
rs1961534415
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NM_004360.5(CDH1):c.247A>G (p.Ile83Val)
|
rs1960511548
|
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NM_004360.5(CDH1):c.2480A>G (p.Tyr827Cys)
|
rs1555518224
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NM_004360.5(CDH1):c.2486C>A (p.Ser829Tyr)
|
rs864622310
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NM_004360.5(CDH1):c.2486C>T (p.Ser829Phe)
|
rs864622310
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NM_004360.5(CDH1):c.2492T>G (p.Leu831Arg)
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NM_004360.5(CDH1):c.2494G>T (p.Val832Leu)
|
rs35572355
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NM_004360.5(CDH1):c.2497T>C (p.Phe833Leu)
|
rs863224728
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NM_004360.5(CDH1):c.249T>C (p.Ile83=)
|
rs878854687
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NM_004360.5(CDH1):c.2500G>A (p.Asp834Asn)
|
rs1567517670
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NM_004360.5(CDH1):c.2503T>C (p.Tyr835His)
|
rs1961536179
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NM_004360.5(CDH1):c.2504A>G (p.Tyr835Cys)
|
rs1961536275
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NM_004360.5(CDH1):c.2510G>A (p.Gly837Glu)
|
rs1961536737
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NM_004360.5(CDH1):c.2513G>A (p.Ser838Asn)
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NM_004360.5(CDH1):c.2514C>A (p.Ser838Arg)
|
rs770974998
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NM_004360.5(CDH1):c.2514C>G (p.Ser838Arg)
|
rs770974998
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NM_004360.5(CDH1):c.2515G>T (p.Gly839Cys)
|
rs587780121
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NM_004360.5(CDH1):c.2516G>A (p.Gly839Asp)
|
rs1961537321
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NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro)
|
rs1555518243
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NM_004360.5(CDH1):c.2519C>T (p.Ser840Phe)
|
rs587781300
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NM_004360.5(CDH1):c.251C>A (p.Thr84Lys)
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NM_004360.5(CDH1):c.2521G>C (p.Glu841Gln)
|
rs377489352
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NM_004360.5(CDH1):c.2522A>T (p.Glu841Val)
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NM_004360.5(CDH1):c.2527G>A (p.Ala843Thr)
|
rs768350776
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NM_004360.5(CDH1):c.2529_2530delinsAG (p.Ser844Gly)
|
rs1961538497
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NM_004360.5(CDH1):c.2530A>C (p.Ser844Arg)
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NM_004360.5(CDH1):c.2531G>C (p.Ser844Thr)
|
rs1247754103
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NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile)
|
rs1247754103
|
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NM_004360.5(CDH1):c.2534T>A (p.Leu845Gln)
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NM_004360.5(CDH1):c.2539T>G (p.Ser847Ala)
|
rs1555518248
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NM_004360.5(CDH1):c.253G>A (p.Val85Ile)
|
rs1555514427
|
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NM_004360.5(CDH1):c.2540C>G (p.Ser847Cys)
|
rs1555518249
|
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NM_004360.5(CDH1):c.2540C>T (p.Ser847Phe)
|
rs1555518249
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NM_004360.5(CDH1):c.2544G>C (p.Leu848=)
|
rs2152144040
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NM_004360.5(CDH1):c.2546A>G (p.Asn849Ser)
|
rs1961539722
|
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NM_004360.5(CDH1):c.2549C>T (p.Ser850Phe)
|
rs1337211551
|
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NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)
|
rs2152144059
|
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NM_004360.5(CDH1):c.2552C>G (p.Ser851Ter)
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NM_004360.5(CDH1):c.2554G>A (p.Glu852Lys)
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NM_004360.5(CDH1):c.2555A>G (p.Glu852Gly)
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NM_004360.5(CDH1):c.2556G>T (p.Glu852Asp)
|
rs760315494
|
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NM_004360.5(CDH1):c.2557T>C (p.Ser853Pro)
|
rs765978401
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NM_004360.5(CDH1):c.2560G>C (p.Asp854His)
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NM_004360.5(CDH1):c.2560G>T (p.Asp854Tyr)
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NM_004360.5(CDH1):c.2561A>C (p.Asp854Ala)
|
rs1961541103
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NM_004360.5(CDH1):c.2561A>T (p.Asp854Val)
|
rs1961541103
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NM_004360.5(CDH1):c.2562C>A (p.Asp854Glu)
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NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn)
|
rs2152144092
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NM_004360.5(CDH1):c.2567A>C (p.Asp856Ala)
|
rs1567517789
|
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NM_004360.5(CDH1):c.2568C>G (p.Asp856Glu)
|
rs1596976533
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NM_004360.5(CDH1):c.2570A>G (p.Gln857Arg)
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NM_004360.5(CDH1):c.2573A>G (p.Asp858Gly)
|
rs1961541678
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NM_004360.5(CDH1):c.2574C>G (p.Asp858Glu)
|
rs1060501245
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NM_004360.5(CDH1):c.2575T>C (p.Tyr859His)
|
rs1596976564
|
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NM_004360.5(CDH1):c.2576A>G (p.Tyr859Cys)
|
rs1596976571
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NM_004360.5(CDH1):c.2577T>A (p.Tyr859Ter)
|
rs765545887
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|
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NM_004360.5(CDH1):c.2578G>A (p.Asp860Asn)
|
rs1412506259
|
|
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NM_004360.5(CDH1):c.2578G>C (p.Asp860His)
|
rs1412506259
|
|
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NM_004360.5(CDH1):c.2581T>G (p.Tyr861Asp)
|
rs1185746867
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NM_004360.5(CDH1):c.2582A>C (p.Tyr861Ser)
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NM_004360.5(CDH1):c.2582A>G (p.Tyr861Cys)
|
rs1961542515
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NM_004360.5(CDH1):c.2584T>G (p.Leu862Val)
|
rs2152144131
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NM_004360.5(CDH1):c.2585T>G (p.Leu862Trp)
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|
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|
NM_004360.5(CDH1):c.2589C>A (p.Asn863Lys)
|
rs115817750
|
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NM_004360.5(CDH1):c.2589C>G (p.Asn863Lys)
|
rs115817750
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NM_004360.5(CDH1):c.258A>C (p.Lys86Asn)
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NM_004360.5(CDH1):c.2590G>C (p.Glu864Gln)
|
rs142927667
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NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)
|
rs1555518267
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NM_004360.5(CDH1):c.2593T>G (p.Trp865Gly)
|
rs1555518267
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NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)
|
rs1555518270
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NM_004360.5(CDH1):c.2596G>A (p.Gly866Ser)
|
rs1060501230
|
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NM_004360.5(CDH1):c.2597G>A (p.Gly866Asp)
|
rs1410318220
|
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NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)
|
rs1410318220
|
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NM_004360.5(CDH1):c.2599A>G (p.Asn867Asp)
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|
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|
NM_004360.5(CDH1):c.25T>G (p.Ser9Ala)
|
rs1555509645
|
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NM_004360.5(CDH1):c.2600A>C (p.Asn867Thr)
|
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NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
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NM_004360.5(CDH1):c.2602_2612del (p.Arg868fs)
|
rs2152144176
|
|
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NM_004360.5(CDH1):c.260G>A (p.Arg87Lys)
|
rs1960512598
|
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NM_004360.5(CDH1):c.2612A>C (p.Lys871Thr)
|
rs2152144190
|
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NM_004360.5(CDH1):c.2613G>C (p.Lys871Asn)
|
rs2152144195
|
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NM_004360.5(CDH1):c.2614C>G (p.Leu872Val)
|
rs749203461
|
|
|
NM_004360.5(CDH1):c.2617G>A (p.Ala873Thr)
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|
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|
NM_004360.5(CDH1):c.2618C>T (p.Ala873Val)
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NM_004360.5(CDH1):c.2620G>C (p.Asp874His)
|
rs1555518283
|
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NM_004360.5(CDH1):c.2623A>G (p.Met875Val)
|
rs1555518287
|
|
|
NM_004360.5(CDH1):c.2624T>C (p.Met875Thr)
|
rs900118000
|
|
|
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg)
|
rs900118000
|
|
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NM_004360.5(CDH1):c.2625G>A (p.Met875Ile)
|
rs1555518291
|
|
|
NM_004360.5(CDH1):c.2627A>T (p.Tyr876Phe)
|
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
|
NM_004360.5(CDH1):c.2629G>C (p.Gly877Arg)
|
|
|
|
NM_004360.5(CDH1):c.262C>A (p.Pro88Thr)
|
rs779313390
|
|
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NM_004360.5(CDH1):c.262C>T (p.Pro88Ser)
|
rs779313390
|
|
|
NM_004360.5(CDH1):c.2636G>A (p.Gly879Asp)
|
|
|
|
NM_004360.5(CDH1):c.2636G>T (p.Gly879Val)
|
rs1567517888
|
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|
NM_004360.5(CDH1):c.2638G>C (p.Glu880Gln)
|
rs34507583
|
|
|
NM_004360.5(CDH1):c.2639A>G (p.Glu880Gly)
|
rs1555518306
|
|
|
NM_004360.5(CDH1):c.263C>G (p.Pro88Arg)
|
rs1381409755
|
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
|
NM_004360.5(CDH1):c.2641G>A (p.Asp881Asn)
|
rs1198941336
|
|
|
NM_004360.5(CDH1):c.2644G>C (p.Asp882His)
|
|
|
|
NM_004360.5(CDH1):c.2645A>G (p.Asp882Gly)
|
rs1961548324
|
|
|
NM_004360.5(CDH1):c.2645A>T (p.Asp882Val)
|
rs1961548324
|
|
|
NM_004360.5(CDH1):c.2646C>G (p.Asp882Glu)
|
rs1555518315
|
|
|
NM_004360.5(CDH1):c.2647T>C (p.Ter883Gln)
|
rs932491569
|
|
|
NM_004360.5(CDH1):c.2648A>G (p.Ter883Trp)
|
|
|
|
NM_004360.5(CDH1):c.2649G>T (p.Ter883Tyr)
|
|
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
|
NM_004360.5(CDH1):c.269G>C (p.Arg90Pro)
|
rs587782647
|
|
|
NM_004360.5(CDH1):c.269G>T (p.Arg90Leu)
|
rs587782647
|
|
|
NM_004360.5(CDH1):c.26C>G (p.Ser9Trp)
|
|
|
|
NM_004360.5(CDH1):c.26C>T (p.Ser9Leu)
|
rs1555509646
|
|
|
NM_004360.5(CDH1):c.271T>C (p.Phe91Leu)
|
|
|
|
NM_004360.5(CDH1):c.272T>G (p.Phe91Cys)
|
|
|
|
NM_004360.5(CDH1):c.277A>T (p.Asn93Tyr)
|
rs1960514281
|
|
|
NM_004360.5(CDH1):c.284A>G (p.Gln95Arg)
|
rs1960514915
|
|
|
NM_004360.5(CDH1):c.286A>T (p.Ile96Phe)
|
rs749306433
|
|
|
NM_004360.5(CDH1):c.287T>C (p.Ile96Thr)
|
rs2152126853
|
|
|
NM_004360.5(CDH1):c.289C>A (p.His97Asn)
|
rs587778173
|
|
|
NM_004360.5(CDH1):c.289C>G (p.His97Asp)
|
rs587778173
|
|
|
NM_004360.5(CDH1):c.293T>A (p.Phe98Tyr)
|
rs1555514451
|
|
|
NM_004360.5(CDH1):c.298G>A (p.Val100Ile)
|
rs1064793437
|
|
|
NM_004360.5(CDH1):c.298G>T (p.Val100Phe)
|
rs1064793437
|
|
|
NM_004360.5(CDH1):c.299T>C (p.Val100Ala)
|
rs1555514454
|
|
|
NM_004360.5(CDH1):c.29C>A (p.Ala10Glu)
|
rs1375360857
|
|
|
NM_004360.5(CDH1):c.29delinsGGCT (p.Ala10delinsGlyLeu)
|
rs1962425092
|
|
|
NM_004360.5(CDH1):c.302A>G (p.Tyr101Cys)
|
|
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
|
NM_004360.5(CDH1):c.307T>G (p.Trp103Gly)
|
|
|
|
NM_004360.5(CDH1):c.309G>C (p.Trp103Cys)
|
|
|
|
NM_004360.5(CDH1):c.311A>G (p.Asp104Gly)
|
|
|
|
NM_004360.5(CDH1):c.311A>T (p.Asp104Val)
|
rs760351575
|
|
|
NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)
|
rs1165815510
|
|
|
NM_004360.5(CDH1):c.320A>G (p.Tyr107Cys)
|
rs1060501241
|
|
|
NM_004360.5(CDH1):c.328T>C (p.Phe110Leu)
|
rs1960519396
|
|
|
NM_004360.5(CDH1):c.32T>C (p.Leu11Pro)
|
rs1393903966
|
|
|
NM_004360.5(CDH1):c.32T>G (p.Leu11Arg)
|
rs1393903966
|
|
|
NM_004360.5(CDH1):c.32TGC[2] (p.Leu13_Leu15del)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.331T>C (p.Ser111Pro)
|
rs1960519552
|
|
|
NM_004360.5(CDH1):c.332C>T (p.Ser111Phe)
|
rs1567501376
|
|
|
NM_004360.5(CDH1):c.338A>C (p.Lys113Thr)
|
rs1960520003
|
|
|
NM_004360.5(CDH1):c.340G>A (p.Val114Ile)
|
|
|
|
NM_004360.5(CDH1):c.343A>G (p.Thr115Ala)
|
|
|
|
NM_004360.5(CDH1):c.344C>G (p.Thr115Arg)
|
rs370973869
|
|
|
NM_004360.5(CDH1):c.350A>G (p.Asn117Ser)
|
rs758733846
|
|
|
NM_004360.5(CDH1):c.350A>T (p.Asn117Ile)
|
rs758733846
|
|
|
NM_004360.5(CDH1):c.352A>G (p.Thr118Ala)
|
rs1555514476
|
|
|
NM_004360.5(CDH1):c.353C>G (p.Thr118Arg)
|
rs587782677
|
|
|
NM_004360.5(CDH1):c.353C>T (p.Thr118Ile)
|
rs587782677
|
|
|
NM_004360.5(CDH1):c.355G>A (p.Val119Met)
|
rs786203849
|
|
|
NM_004360.5(CDH1):c.356T>G (p.Val119Gly)
|
rs1597884955
|
|
|
NM_004360.5(CDH1):c.358G>A (p.Gly120Arg)
|
rs751789834
|
|
|
NM_004360.5(CDH1):c.358G>T (p.Gly120Trp)
|
rs751789834
|
|
|
NM_004360.5(CDH1):c.361C>A (p.His121Asn)
|
rs1305026083
|
|
|
NM_004360.5(CDH1):c.362A>G (p.His121Arg)
|
|
|
|
NM_004360.5(CDH1):c.363C>G (p.His121Gln)
|
rs781427897
|
|
|
NM_004360.5(CDH1):c.363_364delinsAG (p.His121_His122delinsGlnAsp)
|
rs1597884981
|
|
|
NM_004360.5(CDH1):c.364C>T (p.His122Tyr)
|
rs528816701
|
|
|
NM_004360.5(CDH1):c.367C>A (p.His123Asn)
|
rs1555514482
|
|
|
NM_004360.5(CDH1):c.367C>G (p.His123Asp)
|
rs1555514482
|
|
|
NM_004360.5(CDH1):c.370C>A (p.Arg124Ser)
|
rs748086082
|
|
|
NM_004360.5(CDH1):c.371G>C (p.Arg124Pro)
|
rs115418995
|
|
|
NM_004360.5(CDH1):c.371G>T (p.Arg124Leu)
|
|
|
|
NM_004360.5(CDH1):c.373C>A (p.Pro125Thr)
|
|
|
|
NM_004360.5(CDH1):c.374C>T (p.Pro125Leu)
|
rs2152127049
|
|
|
NM_004360.5(CDH1):c.375C>T (p.Pro125=)
|
rs773044699
|
|
|
NM_004360.5(CDH1):c.376C>T (p.Pro126Ser)
|
rs1555514491
|
|
|
NM_004360.5(CDH1):c.377C>A (p.Pro126Gln)
|
rs746703615
|
|
|
NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)
|
rs746703615
|
|
|
NM_004360.5(CDH1):c.379C>A (p.Pro127Thr)
|
rs1060501250
|
|
|
NM_004360.5(CDH1):c.383A>G (p.His128Arg)
|
rs1960525322
|
|
|
NM_004360.5(CDH1):c.387+1G>C
|
rs587781919
|
|
|
NM_004360.5(CDH1):c.387+2T>A
|
rs903144020
|
|
|
NM_004360.5(CDH1):c.387+2T>C
|
rs903144020
|
|
|
NM_004360.5(CDH1):c.387+3A>G
|
|
|
|
NM_004360.5(CDH1):c.387+4T>G
|
|
|
|
NM_004360.5(CDH1):c.387+6T>A
|
|
|
|
NM_004360.5(CDH1):c.387+76C>A
|
|
|
|
NM_004360.5(CDH1):c.387G>C (p.Gln129His)
|
|
|
|
NM_004360.5(CDH1):c.387G>T (p.Gln129His)
|
rs764700595
|
|
|
NM_004360.5(CDH1):c.388G>A (p.Ala130Thr)
|
rs2152129578
|
|
|
NM_004360.5(CDH1):c.388G>C (p.Ala130Pro)
|
rs2152129578
|
|
|
NM_004360.5(CDH1):c.389C>A (p.Ala130Asp)
|
rs1960723934
|
|
|
NM_004360.5(CDH1):c.389C>G (p.Ala130Gly)
|
|
|
|
NM_004360.5(CDH1):c.389C>T (p.Ala130Val)
|
rs1960723934
|
|
|
NM_004360.5(CDH1):c.38T>C (p.Leu13Pro)
|
|
|
|
NM_004360.5(CDH1):c.391T>G (p.Ser131Ala)
|
rs2152129586
|
|
|
NM_004360.5(CDH1):c.394G>T (p.Val132Phe)
|
rs142498771
|
|
|
NM_004360.5(CDH1):c.400G>A (p.Gly134Arg)
|
rs1060501220
|
|
|
NM_004360.5(CDH1):c.400G>C (p.Gly134Arg)
|
rs1060501220
|
|
|
NM_004360.5(CDH1):c.404T>A (p.Ile135Asn)
|
rs1555515189
|
|
|
NM_004360.5(CDH1):c.407A>G (p.Gln136Arg)
|
rs1184630483
|
|
|
NM_004360.5(CDH1):c.409G>A (p.Ala137Thr)
|
rs876658797
|
|
|
NM_004360.5(CDH1):c.409G>C (p.Ala137Pro)
|
rs876658797
|
|
|
NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg)
|
|
|
|
NM_004360.5(CDH1):c.410C>A (p.Ala137Glu)
|
rs2152129622
|
|
|
NM_004360.5(CDH1):c.413A>G (p.Glu138Gly)
|
rs864622284
|
|
|
NM_004360.5(CDH1):c.417G>C (p.Leu139Phe)
|
rs1057521858
|
|
|
NM_004360.5(CDH1):c.418C>T (p.Leu140Phe)
|
rs758277885
|
|
|
NM_004360.5(CDH1):c.421A>C (p.Thr141Pro)
|
|
|
|
NM_004360.5(CDH1):c.428C>T (p.Pro143Leu)
|
rs777714207
|
|
|
NM_004360.5(CDH1):c.431A>G (p.Asn144Ser)
|
rs1597890516
|
|
|
NM_004360.5(CDH1):c.434C>A (p.Ser145Tyr)
|
rs1960726290
|
|
|
NM_004360.5(CDH1):c.437C>T (p.Ser146Phe)
|
|
|
|
NM_004360.5(CDH1):c.439C>T (p.Pro147Ser)
|
rs1567504538
|
|
|
NM_004360.5(CDH1):c.440C>G (p.Pro147Arg)
|
rs587782571
|
|
|
NM_004360.5(CDH1):c.442G>A (p.Gly148Ser)
|
rs1567504543
|
|
|
NM_004360.5(CDH1):c.443G>A (p.Gly148Asp)
|
rs1960726961
|
|
|
NM_004360.5(CDH1):c.443G>C (p.Gly148Ala)
|
rs1960726961
|
|
|
NM_004360.5(CDH1):c.443G>T (p.Gly148Val)
|
rs1960726961
|
|
|
NM_004360.5(CDH1):c.445C>G (p.Leu149Val)
|
rs876658781
|
|
|
NM_004360.5(CDH1):c.446T>C (p.Leu149Pro)
|
rs780955025
|
|
|
NM_004360.5(CDH1):c.452G>T (p.Arg151Ile)
|
rs1060501213
|
|
|
NM_004360.5(CDH1):c.454C>G (p.Gln152Glu)
|
rs1555515211
|
|
|
NM_004360.5(CDH1):c.455A>C (p.Gln152Pro)
|
rs1233421331
|
|
|
NM_004360.5(CDH1):c.455A>G (p.Gln152Arg)
|
rs1233421331
|
|
|
NM_004360.5(CDH1):c.458A>G (p.Lys153Arg)
|
|
|
|
NM_004360.5(CDH1):c.459G>C (p.Lys153Asn)
|
|
|
|
NM_004360.5(CDH1):c.459G>T (p.Lys153Asn)
|
|
|
|
NM_004360.5(CDH1):c.464A>G (p.Asp155Gly)
|
|
|
|
NM_004360.5(CDH1):c.465C>G (p.Asp155Glu)
|
rs1597890615
|
|
|
NM_004360.5(CDH1):c.469G>A (p.Val157Ile)
|
rs1960728608
|
|
|
NM_004360.5(CDH1):c.46C>G (p.Gln16Glu)
|
|
|
|
NM_004360.5(CDH1):c.470T>C (p.Val157Ala)
|
rs587783046
|
|
|
NM_004360.5(CDH1):c.47A>G (p.Gln16Arg)
|
|
|
|
NM_004360.5(CDH1):c.47A>T (p.Gln16Leu)
|
rs775705607
|
|
|
NM_004360.5(CDH1):c.48+41C>T
|
|
|
|
NM_004360.5(CDH1):c.48+52C>A
|
|
|
|
NM_004360.5(CDH1):c.48+5C>T
|
rs77312180
|
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsAT
|
rs1555509656
|
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsGT
|
rs1555509656
|
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsTT
|
rs1555509656
|
|
|
NM_004360.5(CDH1):c.48+63T>C
|
|
|
|
NM_004360.5(CDH1):c.48+6_48+7delinsTG
|
rs786200947
|
|
|
NM_004360.5(CDH1):c.48+83C>T
|
|
|
|
NM_004360.5(CDH1):c.485G>T (p.Ser162Ile)
|
rs1567504603
|
|
|
NM_004360.5(CDH1):c.487T>C (p.Cys163Arg)
|
|
|
|
NM_004360.5(CDH1):c.488G>A (p.Cys163Tyr)
|
rs748783182
|
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
|
NM_004360.5(CDH1):c.489C>G (p.Cys163Trp)
|
rs1064794230
|
|
|
NM_004360.5(CDH1):c.48G>A (p.Gln16=)
|
rs749591910
|
|
|
NM_004360.5(CDH1):c.48G>C (p.Gln16His)
|
rs749591910
|
|
|
NM_004360.5(CDH1):c.49-13T>A
|
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
|
NM_004360.5(CDH1):c.49-3C>A
|
rs587782366
|
|
|
NM_004360.5(CDH1):c.49-3C>G
|
|
|
|
NM_004360.5(CDH1):c.49-6C>G
|
|
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
|
NM_004360.5(CDH1):c.490C>G (p.Pro164Ala)
|
rs1597890670
|
|
|
NM_004360.5(CDH1):c.490C>T (p.Pro164Ser)
|
|
|
|
NM_004360.5(CDH1):c.498T>G (p.Asn166Lys)
|
rs1555515224
|
|
|
NM_004360.5(CDH1):c.49G>C (p.Val17Leu)
|
rs780470521
|
|
|
NM_004360.5(CDH1):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_004360.5(CDH1):c.503A>G (p.Lys168Arg)
|
rs1483883033
|
|
|
NM_004360.5(CDH1):c.505G>A (p.Gly169Ser)
|
rs1597890692
|
|
|
NM_004360.5(CDH1):c.508C>T (p.Pro170Ser)
|
rs1284865285
|
|
|
NM_004360.5(CDH1):c.509C>A (p.Pro170Gln)
|
|
|
|
NM_004360.5(CDH1):c.509C>T (p.Pro170Leu)
|
rs2152129802
|
|
|
NM_004360.5(CDH1):c.512T>G (p.Phe171Cys)
|
rs772622109
|
|
|
NM_004360.5(CDH1):c.514C>T (p.Pro172Ser)
|
rs2152129811
|
|
|
NM_004360.5(CDH1):c.519A>C (p.Lys173Asn)
|
|
|
|
NM_004360.5(CDH1):c.520A>G (p.Asn174Asp)
|
rs1960730617
|
|
|
NM_004360.5(CDH1):c.521A>T (p.Asn174Ile)
|
rs1597890718
|
|
|
NM_004360.5(CDH1):c.522C>A (p.Asn174Lys)
|
rs571581856
|
|
|
NM_004360.5(CDH1):c.522C>G (p.Asn174Lys)
|
|
|
|
NM_004360.5(CDH1):c.524_525delinsAT (p.Leu175His)
|
|
|
|
NM_004360.5(CDH1):c.526G>A (p.Val176Ile)
|
rs2152129832
|
|
|
NM_004360.5(CDH1):c.531+3A>C
|
|
|
|
NM_004360.5(CDH1):c.531+4G>A
|
|
|
|
NM_004360.5(CDH1):c.531+5A>G
|
|
|
|
NM_004360.5(CDH1):c.531+6G>A
|
rs1960731673
|
|
|
NM_004360.5(CDH1):c.531G>A (p.Gln177=)
|
rs876659103
|
|
|
NM_004360.5(CDH1):c.532-25T>C
|
|
|
|
NM_004360.5(CDH1):c.532A>G (p.Ile178Val)
|
|
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
|
NM_004360.5(CDH1):c.53C>A (p.Ser18Tyr)
|
|
|
|
NM_004360.5(CDH1):c.541A>G (p.Asn181Asp)
|
|
|
|
NM_004360.5(CDH1):c.543C>G (p.Asn181Lys)
|
rs2152130057
|
|
|
NM_004360.5(CDH1):c.543CAAAGA[1] (p.Asp183_Lys184del)
|
rs1960735700
|
|
|
NM_004360.5(CDH1):c.547G>A (p.Asp183Asn)
|
|
|
|
NM_004360.5(CDH1):c.548A>G (p.Asp183Gly)
|
rs1960736116
|
|
|
NM_004360.5(CDH1):c.550A>G (p.Lys184Glu)
|
|
|
|
NM_004360.5(CDH1):c.552A>C (p.Lys184Asn)
|
rs1555515248
|
|
|
NM_004360.5(CDH1):c.554A>T (p.Glu185Val)
|
rs1060501228
|
|
|
NM_004360.5(CDH1):c.557G>A (p.Gly186Asp)
|
rs1567504752
|
|
|
NM_004360.5(CDH1):c.557G>T (p.Gly186Val)
|
rs1567504752
|
|
|
NM_004360.5(CDH1):c.55T>C (p.Ser19Pro)
|
|
|
|
NM_004360.5(CDH1):c.562G>C (p.Val188Leu)
|
rs775484115
|
|
|
NM_004360.5(CDH1):c.563T>C (p.Val188Ala)
|
|
|
|
NM_004360.5(CDH1):c.569A>G (p.Tyr190Cys)
|
|
|
|
NM_004360.5(CDH1):c.56C>A (p.Ser19Tyr)
|
rs1221633501
|
|
|
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)
|
rs1221633501
|
|
|
NM_004360.5(CDH1):c.56C>T (p.Ser19Phe)
|
rs1221633501
|
|
|
NM_004360.5(CDH1):c.572G>A (p.Ser191Asn)
|
rs2152130119
|
|
|
NM_004360.5(CDH1):c.577A>G (p.Thr193Ala)
|
rs1597891014
|
|
|
NM_004360.5(CDH1):c.578C>T (p.Thr193Ile)
|
rs970086859
|
|
|
NM_004360.5(CDH1):c.580G>A (p.Gly194Ser)
|
|
|
|
NM_004360.5(CDH1):c.581G>A (p.Gly194Asp)
|
|
|
|
NM_004360.5(CDH1):c.583C>G (p.Gln195Glu)
|
rs1960737851
|
|
|
NM_004360.5(CDH1):c.584A>G (p.Gln195Arg)
|
|
|
|
NM_004360.5(CDH1):c.585A>C (p.Gln195His)
|
rs1555515262
|
|
|
NM_004360.5(CDH1):c.587G>A (p.Gly196Glu)
|
|
|
|
NM_004360.5(CDH1):c.58T>A (p.Trp20Arg)
|
|
|
|
NM_004360.5(CDH1):c.592G>C (p.Asp198His)
|
rs1308439785
|
|
|
NM_004360.5(CDH1):c.593A>T (p.Asp198Val)
|
|
|
|
NM_004360.5(CDH1):c.595A>G (p.Thr199Ala)
|
|
|
|
NM_004360.5(CDH1):c.596C>A (p.Thr199Lys)
|
rs750249747
|
|
|
NM_004360.5(CDH1):c.597A>G (p.Thr199=)
|
rs1960738532
|
|
|
NM_004360.5(CDH1):c.598C>A (p.Pro200Thr)
|
rs1960738612
|
|
|
NM_004360.5(CDH1):c.598C>T (p.Pro200Ser)
|
rs1960738612
|
|
|
NM_004360.5(CDH1):c.599C>T (p.Pro200Leu)
|
rs1555515266
|
|
|
NM_004360.5(CDH1):c.59G>C (p.Trp20Ser)
|
rs121964875
|
|
|
NM_004360.5(CDH1):c.5G>T (p.Gly2Val)
|
rs878854692
|
|
|
NM_004360.5(CDH1):c.601C>T (p.Pro201Ser)
|
rs2152130165
|
|
|
NM_004360.5(CDH1):c.602C>A (p.Pro201His)
|
rs146777134
|
|
|
NM_004360.5(CDH1):c.602C>T (p.Pro201Leu)
|
rs146777134
|
|
|
NM_004360.5(CDH1):c.604G>C (p.Val202Leu)
|
rs546716073
|
|
|
NM_004360.5(CDH1):c.605T>C (p.Val202Ala)
|
rs1257844218
|
|
|
NM_004360.5(CDH1):c.607G>A (p.Gly203Ser)
|
rs1215319435
|
|
|
NM_004360.5(CDH1):c.607G>C (p.Gly203Arg)
|
rs1215319435
|
|
|
NM_004360.5(CDH1):c.608G>C (p.Gly203Ala)
|
|
|
|
NM_004360.5(CDH1):c.610G>A (p.Val204Ile)
|
rs876661028
|
|
|
NM_004360.5(CDH1):c.610G>T (p.Val204Phe)
|
rs876661028
|
|
|
NM_004360.5(CDH1):c.611T>A (p.Val204Asp)
|
|
|
|
NM_004360.5(CDH1):c.611T>C (p.Val204Ala)
|
rs754581268
|
|
|
NM_004360.5(CDH1):c.613T>C (p.Phe205Leu)
|
rs1960739930
|
|
|
NM_004360.5(CDH1):c.614T>C (p.Phe205Ser)
|
rs1567504835
|
|
|
NM_004360.5(CDH1):c.616A>C (p.Ile206Leu)
|
|
|
|
NM_004360.5(CDH1):c.616A>G (p.Ile206Val)
|
rs1004655282
|
|
|
NM_004360.5(CDH1):c.617T>C (p.Ile206Thr)
|
rs1254143781
|
|
|
NM_004360.5(CDH1):c.619A>G (p.Ile207Val)
|
rs1470258333
|
|
|
NM_004360.5(CDH1):c.61C>A (p.Leu21Ile)
|
rs863224729
|
|
|
NM_004360.5(CDH1):c.61C>T (p.Leu21Phe)
|
rs863224729
|
|
|
NM_004360.5(CDH1):c.620T>G (p.Ile207Ser)
|
|
|
|
NM_004360.5(CDH1):c.626G>A (p.Arg209Lys)
|
rs1060501243
|
|
|
NM_004360.5(CDH1):c.627A>C (p.Arg209Ser)
|
rs371601956
|
|
|
NM_004360.5(CDH1):c.62T>C (p.Leu21Pro)
|
rs1064794920
|
|
|
NM_004360.5(CDH1):c.631A>T (p.Thr211Ser)
|
rs587781766
|
|
|
NM_004360.5(CDH1):c.634G>C (p.Gly212Arg)
|
rs1064796210
|
|
|
NM_004360.5(CDH1):c.637T>A (p.Trp213Arg)
|
rs1555515277
|
|
|
NM_004360.5(CDH1):c.638G>T (p.Trp213Leu)
|
rs1567504890
|
|
|
NM_004360.5(CDH1):c.641T>C (p.Leu214Pro)
|
rs1960741733
|
|
|
NM_004360.5(CDH1):c.641T>G (p.Leu214Arg)
|
|
|
|
NM_004360.5(CDH1):c.649A>G (p.Thr217Ala)
|
rs1567504901
|
|
|
NM_004360.5(CDH1):c.650C>T (p.Thr217Ile)
|
rs778382252
|
|
|
NM_004360.5(CDH1):c.652G>A (p.Glu218Lys)
|
rs1555515280
|
|
|
NM_004360.5(CDH1):c.653A>G (p.Glu218Gly)
|
rs878854693
|
|
|
NM_004360.5(CDH1):c.655C>T (p.Pro219Ser)
|
rs1060501216
|
|
|
NM_004360.5(CDH1):c.656C>G (p.Pro219Arg)
|
rs1960742618
|
|
|
NM_004360.5(CDH1):c.656C>T (p.Pro219Leu)
|
rs1960742618
|
|
|
NM_004360.5(CDH1):c.658C>A (p.Leu220Met)
|
rs1060501246
|
|
|
NM_004360.5(CDH1):c.659T>G (p.Leu220Arg)
|
|
|
|
NM_004360.5(CDH1):c.65G>A (p.Cys22Tyr)
|
rs1555509758
|
|
|
NM_004360.5(CDH1):c.65G>T (p.Cys22Phe)
|
|
|
|
NM_004360.5(CDH1):c.66C>G (p.Cys22Trp)
|
rs865838543
|
|
|
NM_004360.5(CDH1):c.670C>A (p.Arg224Ser)
|
rs200310662
|
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
|
NM_004360.5(CDH1):c.673A>G (p.Ile225Val)
|
rs1555515290
|
|
|
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr)
|
rs786203207
|
|
|
NM_004360.5(CDH1):c.677C>T (p.Ala226Val)
|
rs1555515292
|
|
|
NM_004360.5(CDH1):c.680C>T (p.Thr227Ile)
|
|
|
|
NM_004360.5(CDH1):c.683A>G (p.Tyr228Cys)
|
rs1597891240
|
|
|
NM_004360.5(CDH1):c.687+2dup
|
|
|
|
NM_004360.5(CDH1):c.687+4A>G
|
|
|
|
NM_004360.5(CDH1):c.687+4_687+7del
|
rs1597891251
|
|
|
NM_004360.5(CDH1):c.687+5G>A
|
rs786202423
|
|
|
NM_004360.5(CDH1):c.688-11_688-10delinsTT
|
|
|
|
NM_004360.5(CDH1):c.688-12T>G
|
|
|
|
NM_004360.5(CDH1):c.688-14_688-6del
|
rs1960778872
|
|
|
NM_004360.5(CDH1):c.688-18C>G
|
rs1567505564
|
|
|
NM_004360.5(CDH1):c.688-53C>G
|
|
|
|
NM_004360.5(CDH1):c.688C>G (p.Leu230Val)
|
|
|
|
NM_004360.5(CDH1):c.689T>A (p.Leu230His)
|
|
|
|
NM_004360.5(CDH1):c.689T>C (p.Leu230Pro)
|
|
|
|
NM_004360.5(CDH1):c.68A>T (p.Gln23Leu)
|
rs1962456890
|
|
|
NM_004360.5(CDH1):c.692T>A (p.Phe231Tyr)
|
|
|
|
NM_004360.5(CDH1):c.694T>A (p.Ser232Thr)
|
|
|
|
NM_004360.5(CDH1):c.695C>G (p.Ser232Cys)
|
rs1555515422
|
|
|
NM_004360.5(CDH1):c.699C>G (p.His233Gln)
|
rs115494727
|
|
|
NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)
|
rs878854694
|
|
|
NM_004360.5(CDH1):c.703G>A (p.Val235Met)
|
rs1960779838
|
|
|
NM_004360.5(CDH1):c.706T>C (p.Ser236Pro)
|
rs2152131015
|
|
|
NM_004360.5(CDH1):c.707C>T (p.Ser236Leu)
|
rs730881663
|
|
|
NM_004360.5(CDH1):c.709T>G (p.Ser237Ala)
|
|
|
|
NM_004360.5(CDH1):c.710C>G (p.Ser237Cys)
|
rs1960780087
|
|
|
NM_004360.5(CDH1):c.713A>C (p.Asn238Thr)
|
|
|
|
NM_004360.5(CDH1):c.713A>G (p.Asn238Ser)
|
|
|
|
NM_004360.5(CDH1):c.716G>A (p.Gly239Glu)
|
rs2152131027
|
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
|
NM_004360.5(CDH1):c.720T>G (p.Asn240Lys)
|
rs2152131034
|
|
|
NM_004360.5(CDH1):c.721G>A (p.Ala241Thr)
|
rs1555515434
|
|
|
NM_004360.5(CDH1):c.734C>T (p.Pro245Leu)
|
|
|
|
NM_004360.5(CDH1):c.736A>G (p.Met246Val)
|
rs1960781848
|
|
|
NM_004360.5(CDH1):c.743T>C (p.Ile248Thr)
|
rs1555515438
|
|
|
NM_004360.5(CDH1):c.747G>C (p.Leu249Phe)
|
|
|
|
NM_004360.5(CDH1):c.748A>G (p.Ile250Val)
|
rs1597892398
|
|
|
NM_004360.5(CDH1):c.74C>T (p.Pro25Leu)
|
rs1485238301
|
|
|
NM_004360.5(CDH1):c.751A>G (p.Thr251Ala)
|
|
|
|
NM_004360.5(CDH1):c.752C>T (p.Thr251Met)
|
rs1454205778
|
|
|
NM_004360.5(CDH1):c.754G>A (p.Val252Ile)
|
rs1358319984
|
|
|
NM_004360.5(CDH1):c.755T>G (p.Val252Gly)
|
rs1960782710
|
|
|
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn)
|
rs1555515445
|
|
|
NM_004360.5(CDH1):c.764A>G (p.Gln255Arg)
|
rs2152131091
|
|
|
NM_004360.5(CDH1):c.765G>T (p.Gln255His)
|
rs1597892443
|
|
|
NM_004360.5(CDH1):c.76G>A (p.Glu26Lys)
|
rs786201058
|
|
|
NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)
|
rs786201058
|
|
|
NM_004360.5(CDH1):c.770A>G (p.Asp257Gly)
|
rs1555515446
|
|
|
NM_004360.5(CDH1):c.771CAA[1] (p.Asn258del)
|
|
|
|
NM_004360.5(CDH1):c.772A>T (p.Asn258Tyr)
|
rs1555515449
|
|
|
NM_004360.5(CDH1):c.778C>T (p.Pro260Ser)
|
rs1567505715
|
|
|
NM_004360.5(CDH1):c.784T>G (p.Phe262Val)
|
rs1567505730
|
|
|
NM_004360.5(CDH1):c.785T>G (p.Phe262Cys)
|
rs1597892468
|
|
|
NM_004360.5(CDH1):c.787A>G (p.Thr263Ala)
|
rs1555515453
|
|
|
NM_004360.5(CDH1):c.787A>T (p.Thr263Ser)
|
rs1555515453
|
|
|
NM_004360.5(CDH1):c.788C>T (p.Thr263Ile)
|
rs1555515456
|
|
|
NM_004360.5(CDH1):c.78G>T (p.Glu26Asp)
|
|
|
|
NM_004360.5(CDH1):c.793G>A (p.Glu265Lys)
|
rs876659503
|
|
|
NM_004360.5(CDH1):c.796G>T (p.Val266Phe)
|
rs1555515463
|
|
|
NM_004360.5(CDH1):c.7C>T (p.Pro3Ser)
|
rs1064793079
|
|
|
NM_004360.5(CDH1):c.806G>A (p.Gly269Glu)
|
|
|
|
NM_004360.5(CDH1):c.806G>C (p.Gly269Ala)
|
|
|
|
NM_004360.5(CDH1):c.80C>T (p.Pro27Leu)
|
rs1597838536
|
|
|
NM_004360.5(CDH1):c.815T>C (p.Met272Thr)
|
rs1567505776
|
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
|
NM_004360.5(CDH1):c.821G>T (p.Gly274Val)
|
rs876660861
|
|
|
NM_004360.5(CDH1):c.824C>A (p.Ala275Asp)
|
rs2152131195
|
|
|
NM_004360.5(CDH1):c.826C>G (p.Leu276Val)
|
rs750911401
|
|
|
NM_004360.5(CDH1):c.827T>C (p.Leu276Pro)
|
rs1960786758
|
|
|
NM_004360.5(CDH1):c.829C>A (p.Pro277Thr)
|
rs864622346
|
|
|
NM_004360.5(CDH1):c.829C>T (p.Pro277Ser)
|
rs864622346
|
|
|
NM_004360.5(CDH1):c.832+5A>G
|
rs756521764
|
|
|
NM_004360.5(CDH1):c.832+6T>C
|
rs1567505832
|
|
|
NM_004360.5(CDH1):c.832+6T>G
|
rs1567505832
|
|
|
NM_004360.5(CDH1):c.833-10A>G
|
rs1168685891
|
|
|
NM_004360.5(CDH1):c.833-19T>G
|
|
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
|
NM_004360.5(CDH1):c.833G>A (p.Gly278Glu)
|
rs1555515597
|
|
|
NM_004360.5(CDH1):c.833G>C (p.Gly278Ala)
|
rs1555515597
|
|
|
NM_004360.5(CDH1):c.834A>G (p.Gly278=)
|
rs1597893922
|
|
|
NM_004360.5(CDH1):c.835A>G (p.Thr279Ala)
|
|
|
|
NM_004360.5(CDH1):c.835A>T (p.Thr279Ser)
|
rs1444822940
|
|
|
NM_004360.5(CDH1):c.835_836delinsGA (p.Thr279Asp)
|
rs1960834189
|
|
|
NM_004360.5(CDH1):c.836C>G (p.Thr279Ser)
|
rs761269950
|
|
|
NM_004360.5(CDH1):c.83G>A (p.Cys28Tyr)
|
|
|
|
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
|
|
|
|
NM_004360.5(CDH1):c.845T>A (p.Met282Lys)
|
rs730881652
|
|
|
NM_004360.5(CDH1):c.847G>A (p.Glu283Lys)
|
rs1555515601
|
|
|
NM_004360.5(CDH1):c.847G>C (p.Glu283Gln)
|
|
|
|
NM_004360.5(CDH1):c.849G>C (p.Glu283Asp)
|
rs2152131901
|
|
|
NM_004360.5(CDH1):c.850G>A (p.Val284Ile)
|
rs786202364
|
|
|
NM_004360.5(CDH1):c.853A>C (p.Thr285Pro)
|
|
|
|
NM_004360.5(CDH1):c.856G>A (p.Ala286Thr)
|
rs1597893973
|
|
|
NM_004360.5(CDH1):c.859A>G (p.Thr287Ala)
|
|
|
|
NM_004360.5(CDH1):c.85C>T (p.His29Tyr)
|
rs1254266267
|
|
|
NM_004360.5(CDH1):c.860C>A (p.Thr287Lys)
|
rs2152131921
|
|
|
NM_004360.5(CDH1):c.864C>G (p.Asp288Glu)
|
|
|
|
NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)
|
rs1255556757
|
|
|
NM_004360.5(CDH1):c.869A>G (p.Asp290Gly)
|
rs2152131936
|
|
|
NM_004360.5(CDH1):c.86A>G (p.His29Arg)
|
rs1555509761
|
|
|
NM_004360.5(CDH1):c.86A>T (p.His29Leu)
|
rs1555509761
|
|
|
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)
|
rs876660645
|
|
|
NM_004360.5(CDH1):c.872ATG[1] (p.Asp292del)
|
rs1555515607
|
|
|
NM_004360.5(CDH1):c.874G>A (p.Asp292Asn)
|
rs1597894017
|
|
|
NM_004360.5(CDH1):c.877G>A (p.Val293Met)
|
rs1960836448
|
|
|
NM_004360.5(CDH1):c.878T>C (p.Val293Ala)
|
rs876659186
|
|
|
NM_004360.5(CDH1):c.878T>G (p.Val293Gly)
|
rs876659186
|
|
|
NM_004360.5(CDH1):c.87C>A (p.His29Gln)
|
rs1555509762
|
|
|
NM_004360.5(CDH1):c.87C>G (p.His29Gln)
|
|
|
|
NM_004360.5(CDH1):c.883A>G (p.Thr295Ala)
|
rs1555515611
|
|
|
NM_004360.5(CDH1):c.884C>A (p.Thr295Asn)
|
rs786204179
|
|
|
NM_004360.5(CDH1):c.884C>T (p.Thr295Ile)
|
|
|
|
NM_004360.5(CDH1):c.889A>G (p.Asn297Asp)
|
rs1960837220
|
|
|
NM_004360.5(CDH1):c.88C>T (p.Pro30Ser)
|
rs139866691
|
|
|
NM_004360.5(CDH1):c.890A>G (p.Asn297Ser)
|
rs572375953
|
|
|
NM_004360.5(CDH1):c.892G>C (p.Ala298Pro)
|
|
|
|
NM_004360.5(CDH1):c.893C>A (p.Ala298Asp)
|
rs1017050648
|
|
|
NM_004360.5(CDH1):c.893C>T (p.Ala298Val)
|
rs1017050648
|
|
|
NM_004360.5(CDH1):c.896C>T (p.Ala299Val)
|
rs745807727
|
|
|
NM_004360.5(CDH1):c.900C>A (p.Ile300=)
|
rs775452740
|
|
|
NM_004360.5(CDH1):c.900C>G (p.Ile300Met)
|
rs775452740
|
|
|
NM_004360.5(CDH1):c.902C>T (p.Ala301Val)
|
|
|
|
NM_004360.5(CDH1):c.905A>G (p.Tyr302Cys)
|
rs768467134
|
|
|
NM_004360.5(CDH1):c.907A>T (p.Thr303Ser)
|
rs876660744
|
|
|
NM_004360.5(CDH1):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_004360.5(CDH1):c.910A>G (p.Ile304Val)
|
rs1597894113
|
|
|
NM_004360.5(CDH1):c.914T>A (p.Leu305His)
|
rs1960838832
|
|
|
NM_004360.5(CDH1):c.916A>G (p.Ser306Gly)
|
rs1555515624
|
|
|
NM_004360.5(CDH1):c.91G>A (p.Gly31Ser)
|
rs2152114387
|
|
|
NM_004360.5(CDH1):c.921A>C (p.Gln307His)
|
rs876660221
|
|
|
NM_004360.5(CDH1):c.922G>A (p.Asp308Asn)
|
rs1339256204
|
|
|
NM_004360.5(CDH1):c.922G>C (p.Asp308His)
|
rs1339256204
|
|
|
NM_004360.5(CDH1):c.923A>G (p.Asp308Gly)
|
|
|
|
NM_004360.5(CDH1):c.923A>T (p.Asp308Val)
|
rs1567506664
|
|
|
NM_004360.5(CDH1):c.924T>C (p.Asp308=)
|
rs1555515629
|
|
|
NM_004360.5(CDH1):c.924T>G (p.Asp308Glu)
|
|
|
|
NM_004360.5(CDH1):c.926C>G (p.Pro309Arg)
|
rs529089668
|
|
|
NM_004360.5(CDH1):c.926C>T (p.Pro309Leu)
|
rs529089668
|
|
|
NM_004360.5(CDH1):c.928G>A (p.Glu310Lys)
|
rs1597894150
|
|
|
NM_004360.5(CDH1):c.929A>G (p.Glu310Gly)
|
rs1291900177
|
|
|
NM_004360.5(CDH1):c.92G>A (p.Gly31Asp)
|
rs1131690823
|
|
|
NM_004360.5(CDH1):c.92G>C (p.Gly31Ala)
|
rs1131690823
|
|
|
NM_004360.5(CDH1):c.92G>T (p.Gly31Val)
|
rs1131690823
|
|
|
NM_004360.5(CDH1):c.931C>T (p.Leu311Phe)
|
rs767003567
|
|
|
NM_004360.5(CDH1):c.932_933delinsAT (p.Leu311His)
|
|
|
|
NM_004360.5(CDH1):c.935C>T (p.Pro312Leu)
|
|
|
|
NM_004360.5(CDH1):c.937G>T (p.Asp313Tyr)
|
rs993545618
|
|
|
NM_004360.5(CDH1):c.938A>T (p.Asp313Val)
|
|
|
|
NM_004360.5(CDH1):c.939C>G (p.Asp313Glu)
|
rs955528859
|
|
|
NM_004360.5(CDH1):c.940A>G (p.Lys314Glu)
|
rs1131690820
|
|
|
NM_004360.5(CDH1):c.941A>T (p.Lys314Ile)
|
rs1960840529
|
|
|
NM_004360.5(CDH1):c.944A>C (p.Asn315Thr)
|
rs1960840611
|
|
|
NM_004360.5(CDH1):c.946A>G (p.Met316Val)
|
rs761182866
|
|
|
NM_004360.5(CDH1):c.946A>T (p.Met316Leu)
|
rs761182866
|
|
|
NM_004360.5(CDH1):c.947T>C (p.Met316Thr)
|
|
|
|
NM_004360.5(CDH1):c.948G>A (p.Met316Ile)
|
rs1960840818
|
|
|
NM_004360.5(CDH1):c.949T>C (p.Phe317Leu)
|
rs1555515643
|
|
|
NM_004360.5(CDH1):c.951C>G (p.Phe317Leu)
|
rs985713723
|
|
|
NM_004360.5(CDH1):c.952A>G (p.Thr318Ala)
|
|
|
|
NM_004360.5(CDH1):c.953C>T (p.Thr318Ile)
|
rs1555515644
|
|
|
NM_004360.5(CDH1):c.955A>C (p.Ile319Leu)
|
rs1486730461
|
|
|
NM_004360.5(CDH1):c.955A>G (p.Ile319Val)
|
rs1486730461
|
|
|
NM_004360.5(CDH1):c.958A>G (p.Asn320Asp)
|
|
|
|
NM_004360.5(CDH1):c.959A>T (p.Asn320Ile)
|
|
|
|
NM_004360.5(CDH1):c.961A>G (p.Arg321Gly)
|
rs1555515649
|
|
|
NM_004360.5(CDH1):c.963G>C (p.Arg321Ser)
|
rs1060501231
|
|
|
NM_004360.5(CDH1):c.963G>T (p.Arg321Ser)
|
|
|
|
NM_004360.5(CDH1):c.965A>C (p.Asn322Thr)
|
|
|
|
NM_004360.5(CDH1):c.965A>G (p.Asn322Ser)
|
rs876661274
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NM_004360.5(CDH1):c.966C>G (p.Asn322Lys)
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NM_004360.5(CDH1):c.968C>T (p.Thr323Ile)
|
rs1487750656
|
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NM_004360.5(CDH1):c.970G>A (p.Gly324Arg)
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NM_004360.5(CDH1):c.971G>A (p.Gly324Glu)
|
rs1060501232
|
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NM_004360.5(CDH1):c.971G>C (p.Gly324Ala)
|
rs1060501232
|
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NM_004360.5(CDH1):c.973G>T (p.Val325Phe)
|
rs1597894244
|
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NM_004360.5(CDH1):c.974T>C (p.Val325Ala)
|
rs2152132111
|
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NM_004360.5(CDH1):c.976A>G (p.Ile326Val)
|
rs1567506764
|
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NM_004360.5(CDH1):c.977T>A (p.Ile326Asn)
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NM_004360.5(CDH1):c.980G>A (p.Ser327Asn)
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NM_004360.5(CDH1):c.980G>T (p.Ser327Ile)
|
rs587781778
|
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NM_004360.5(CDH1):c.981T>G (p.Ser327Arg)
|
rs1567506772
|
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NM_004360.5(CDH1):c.982G>A (p.Val328Met)
|
rs754228872
|
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NM_004360.5(CDH1):c.983T>C (p.Val328Ala)
|
rs1597894276
|
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NM_004360.5(CDH1):c.985G>T (p.Val329Phe)
|
rs1597894279
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NM_004360.5(CDH1):c.989C>T (p.Thr330Ile)
|
rs755371143
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NM_004360.5(CDH1):c.98A>T (p.Asp33Val)
|
rs1597838602
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NM_004360.5(CDH1):c.991A>T (p.Thr331Ser)
|
rs1960843471
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NM_004360.5(CDH1):c.992C>A (p.Thr331Asn)
|
rs1597894293
|
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NM_004360.5(CDH1):c.994G>T (p.Gly332Trp)
|
rs587781759
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NM_004360.5(CDH1):c.995G>C (p.Gly332Ala)
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NM_004360.5(CDH1):c.995G>T (p.Gly332Val)
|
rs1597894308
|
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NM_004364.5(CEBPA):c.*31G>C
|
rs2145257862
|
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NM_004364.5(CEBPA):c.*6G>A
|
rs2145257960
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NM_004364.5(CEBPA):c.*86C>T
|
rs991316142
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NM_004364.5(CEBPA):c.*87G>A
|
rs1967150654
|
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NM_004364.5(CEBPA):c.*93T>G
|
rs1600020107
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NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)
|
rs369632687
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NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
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NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)
|
rs2145258387
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NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser)
|
rs996435066
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NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
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NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
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NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
|
rs1967158283
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NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
|
rs1967158182
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NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
|
rs1264760427
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NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
|
rs1967157714
|
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NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
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NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
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NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
|
rs1967157361
|
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NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
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NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
|
rs1238054852
|
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NM_004364.5(CEBPA):c.103del (p.Arg35fs)
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NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
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NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
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NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro)
|
rs1060502117
|
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NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
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NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
|
rs1967200345
|
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NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu)
|
rs373210526
|
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NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
|
rs1317158199
|
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NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu)
|
rs1060502122
|
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NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
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NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp)
|
rs1358286265
|
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NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
|
rs1358286265
|
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NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr)
|
rs543441756
|
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NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
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NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
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NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
|
rs1967200117
|
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NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
|
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NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
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NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
|
rs1162154287
|
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NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)
|
rs577659401
|
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NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
|
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NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr)
|
rs1404014711
|
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NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
|
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NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
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NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
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NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
|
rs1967199337
|
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NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
|
rs1967199149
|
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NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
|
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NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu)
|
rs1060502125
|
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NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
|
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NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
|
rs1967198676
|
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NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
|
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NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
|
rs1382321984
|
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NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
|
rs2145264332
|
|
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NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
|
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NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
|
rs1967197350
|
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NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
|
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NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala)
|
rs2145264273
|
|
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NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
|
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|
NM_004364.5(CEBPA):c.13G>C (p.Asp5His)
|
rs2145265106
|
|
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NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
|
rs1444506221
|
|
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NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
|
|
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|
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr)
|
rs2145264153
|
|
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NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
|
|
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NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
|
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NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala)
|
rs1555742334
|
|
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NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
|
rs1278513408
|
|
|
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
|
rs1278513408
|
|
|
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
|
|
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|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
|
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val)
|
rs1600024079
|
|
|
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
|
rs777090929
|
|
|
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
|
|
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|
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
|
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|
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
|
|
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NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
|
|
|
|
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile)
|
rs1600024682
|
|
|
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
|
rs1967195766
|
|
|
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
|
|
|
|
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
|
|
|
|
NM_004364.5(CEBPA):c.174C>G (p.His58Gln)
|
rs878854699
|
|
|
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser)
|
rs1060502120
|
|
|
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val)
|
rs558462037
|
|
|
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
|
rs1967195162
|
|
|
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
|
rs1452063514
|
|
|
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val)
|
rs1600023975
|
|
|
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
|
|
|
|
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
|
|
|
|
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
|
rs1967194734
|
|
|
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
|
|
|
|
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
|
|
|
|
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
|
|
|
|
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
|
|
|
|
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
|
|
|
|
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr)
|
rs2145263768
|
|
|
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln)
|
rs1600023907
|
|
|
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu)
|
rs1600023907
|
|
|
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr)
|
rs1555742260
|
|
|
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
|
|
|
|
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser)
|
rs2145263697
|
|
|
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
|
|
|
|
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys)
|
rs1555742258
|
|
|
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del)
|
rs1600023841
|
|
|
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn)
|
rs2145263642
|
|
|
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu)
|
rs949548349
|
|
|
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
|
|
|
|
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val)
|
rs2145263620
|
|
|
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
|
|
|
|
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys)
|
rs1600024672
|
|
|
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
|
rs1967193304
|
|
|
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
|
|
|
|
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
|
rs1367071880
|
|
|
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg)
|
rs1424809396
|
|
|
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu)
|
rs1424468512
|
|
|
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
|
rs1967192346
|
|
|
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg)
|
rs2145263423
|
|
|
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
|
rs747773004
|
|
|
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
|
|
|
|
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr)
|
rs1600023742
|
|
|
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu)
|
rs2145265055
|
|
|
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
|
|
|
|
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
|
|
|
|
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
|
|
|
|
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
|
|
|
|
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys)
|
rs878854701
|
|
|
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu)
|
rs1967191835
|
|
|
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly)
|
rs1967191835
|
|
|
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
|
|
|
|
NM_004364.5(CEBPA):c.283G>A (p.Val95Met)
|
rs1356845856
|
|
|
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu)
|
rs1356845856
|
|
|
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly)
|
rs2145263298
|
|
|
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
|
rs1199712903
|
|
|
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys)
|
rs1555742327
|
|
|
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
|
rs1967191484
|
|
|
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
|
rs1490895935
|
|
|
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met)
|
rs1490895935
|
|
|
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
|
rs1967191265
|
|
|
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
|
rs1967191321
|
|
|
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
|
|
|
|
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
|
|
|
|
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
|
|
|
|
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys)
|
rs1600023637
|
|
|
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg)
|
rs1455462308
|
|
|
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
|
rs1358539228
|
|
|
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
|
|
|
|
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp)
|
rs2145263144
|
|
|
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
|
rs1216191482
|
|
|
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup)
|
rs1420856782
|
|
|
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup)
|
rs1568420047
|
|
|
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
|
|
|
|
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu)
|
rs1555742225
|
|
|
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
|
rs1555742325
|
|
|
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser)
|
rs1555742325
|
|
|
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
|
|
|
|
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
|
|
|
|
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
|
rs1967204111
|
|
|
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
|
rs1967204111
|
|
|
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu)
|
rs2145262888
|
|
|
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser)
|
rs2145262821
|
|
|
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
|
|
|
|
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
|
|
|
|
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
|
|
|
|
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val)
|
rs2145262747
|
|
|
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
|
rs902740061
|
|
|
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
|
rs902740061
|
|
|
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup)
|
rs2145262720
|
|
|
NM_004364.5(CEBPA):c.358A>G (p.Met120Val)
|
rs1555742209
|
|
|
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
|
|
|
|
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
|
rs1967187823
|
|
|
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
|
rs1967187823
|
|
|
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
|
rs1967187752
|
|
|
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
|
|
|
|
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
|
rs1013724730
|
|
|
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala)
|
rs1311096326
|
|
|
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val)
|
rs1600023321
|
|
|
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
|
|
|
|
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
|
|
|
|
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
|
|
|
|
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
|
|
|
|
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala)
|
rs2145262546
|
|
|
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser)
|
rs1055210725
|
|
|
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr)
|
rs961496947
|
|
|
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala)
|
rs961496947
|
|
|
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
|
rs961496947
|
|
|
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
|
|
|
|
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg)
|
rs878854702
|
|
|
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu)
|
rs878854702
|
|
|
NM_004364.5(CEBPA):c.386C>A (p.Pro129His)
|
rs1600023223
|
|
|
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
|
rs919904139
|
|
|
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
|
|
|
|
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
|
|
|
|
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg)
|
rs2145264956
|
|
|
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
|
|
|
|
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg)
|
rs1038352346
|
|
|
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
|
|
|
|
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup)
|
rs2145262280
|
|
|
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
|
|
|
|
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
|
|
|
|
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
|
|
|
|
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
|
rs1172993204
|
|
|
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
|
rs1172993204
|
|
|
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
|
rs1967185191
|
|
|
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
|
rs2145262262
|
|
|
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg)
|
rs2145262262
|
|
|
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln)
|
rs1007915253
|
|
|
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)
|
rs1007915253
|
|
|
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
|
|
|
|
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
|
rs1408671093
|
|
|
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
|
|
|
|
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
|
rs1967184663
|
|
|
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
|
|
|
|
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
|
rs1967184550
|
|
|
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp)
|
rs1555742184
|
|
|
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp)
|
rs1555742184
|
|
|
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu)
|
rs2145262134
|
|
|
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
|
|
|
|
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
|
rs1481195051
|
|
|
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
|
|
|
|
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
|
rs1967203329
|
|
|
NM_004364.5(CEBPA):c.43A>G (p.Met15Val)
|
rs1967203329
|
|
|
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
|
|
|
|
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys)
|
rs1388478228
|
|
|
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys)
|
rs2145262063
|
|
|
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
|
|
|
|
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe)
|
rs1600023056
|
|
|
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp)
|
rs2145262045
|
|
|
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
|
|
|
|
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr)
|
rs1600024585
|
|
|
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
|
rs1967182998
|
|
|
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
|
rs986682061
|
|
|
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg)
|
rs986682061
|
|
|
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
|
rs986682061
|
|
|
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu)
|
rs2145262013
|
|
|
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu)
|
rs1967183790
|
|
|
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
|
rs1967183790
|
|
|
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser)
|
rs2145261985
|
|
|
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln)
|
rs1967183728
|
|
|
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
|
rs1967183728
|
|
|
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
|
|
|
|
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
|
|
|
|
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
|
|
|
|
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
|
|
|
|
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
|
|
|
|
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
|
|
|
|
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
|
|
|
|
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu)
|
rs2145261853
|
|
|
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
|
|
|
|
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys)
|
rs1347514128
|
|
|
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
|
|
|
|
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
|
|
|
|
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
|
|
|
|
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
|
rs1967182334
|
|
|
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
|
rs1481086547
|
|
|
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly)
|
rs2145264889
|
|
|
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
|
|
|
|
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val)
|
rs2145261721
|
|
|
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
|
|
|
|
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
|
|
|
|
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
|
|
|
|
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
|
|
|
|
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly)
|
rs957167825
|
|
|
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr)
|
rs1600024559
|
|
|
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
|
rs1967181220
|
|
|
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
|
rs1325138029
|
|
|
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
|
rs1967180974
|
|
|
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
|
|
|
|
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys)
|
rs1600022835
|
|
|
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro)
|
rs1555742145
|
|
|
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
|
|
|
|
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
|
rs1555742145
|
|
|
NM_004364.5(CEBPA):c.546G>C (p.Gln182His)
|
rs2145261525
|
|
|
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup)
|
rs746430067
|
|
|
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg)
|
rs1222448862
|
|
|
NM_004364.5(CEBPA):c.54C>G (p.His18Gln)
|
rs1600024552
|
|
|
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
|
|
|
|
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu)
|
rs2145261468
|
|
|
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
|
rs1303742006
|
|
|
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
|
rs1367523224
|
|
|
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs)
|
rs1427211628
|
|
|
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro)
|
rs1568419793
|
|
|
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln)
|
rs1600022732
|
|
|
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser)
|
rs2145261406
|
|
|
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
|
rs1568419813
|
|
|
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis)
|
rs1967178862
|
|
|
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis)
|
rs1967178862
|
|
|
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
|
|
|
|
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp)
|
rs1555742114
|
|
|
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4])
|
rs2145261294
|
|
|
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
|
|
|
|
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
|
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg)
|
rs1247330890
|
|
|
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)
|
rs1555742103
|
|
|
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
|
|
|
|
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
|
|
|
|
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
|
|
|
|
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala)
|
rs1967177805
|
|
|
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
|
|
|
|
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg)
|
rs1487598012
|
|
|
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
|
rs1213752306
|
|
|
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
|
|
|
|
NM_004364.5(CEBPA):c.585C>G (p.His195Gln)
|
rs2145261171
|
|
|
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
|
|
|
|
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
|
rs1568419745
|
|
|
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr)
|
rs2145261086
|
|
|
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser)
|
rs2145261086
|
|
|
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
|
rs1308416905
|
|
|
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu)
|
rs1060502118
|
|
|
NM_004364.5(CEBPA):c.598C>G (p.His200Asp)
|
rs2145261016
|
|
|
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
|
|
|
|
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val)
|
rs1316179719
|
|
|
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
|
|
|
|
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
|
|
|
|
NM_004364.5(CEBPA):c.60G>C (p.Gln20His)
|
rs1060502123
|
|
|
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala)
|
rs1600022363
|
|
|
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
|
|
|
|
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
|
|
|
|
NM_004364.5(CEBPA):c.614A>G (p.His205Arg)
|
rs1568419698
|
|
|
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
|
|
|
|
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
|
|
|
|
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu)
|
rs2145260930
|
|
|
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
|
|
|
|
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
|
rs890855027
|
|
|
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
|
rs1568419687
|
|
|
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro)
|
rs1568419687
|
|
|
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser)
|
rs1568419687
|
|
|
NM_004364.5(CEBPA):c.634C>G (p.His212Asp)
|
rs1433126196
|
|
|
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr)
|
rs1433126196
|
|
|
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
|
|
|
|
NM_004364.5(CEBPA):c.635A>G (p.His212Arg)
|
rs1967174956
|
|
|
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter)
|
rs1967174687
|
|
|
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg)
|
rs867113214
|
|
|
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
|
|
|
|
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
|
|
|
|
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
|
rs1967174628
|
|
|
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala)
|
rs1600022240
|
|
|
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
|
rs1967174429
|
|
|
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr)
|
rs770636941
|
|
|
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
|
|
|
|
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
|
|
|
|
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
|
|
|
|
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile)
|
rs1555742071
|
|
|
NM_004364.5(CEBPA):c.655C>A (p.His219Asn)
|
rs1568419664
|
|
|
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu)
|
rs2145260807
|
|
|
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser)
|
rs1568419654
|
|
|
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
|
|
|
|
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp)
|
rs2145260788
|
|
|
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
|
|
|
|
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
|
|
|
|
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu)
|
rs1241253530
|
|
|
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
|
rs1478319097
|
|
|
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
|
rs1478319097
|
|
|
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
|
|
|
|
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
|
|
|
|
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln)
|
rs1308550194
|
|
|
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala)
|
rs1600022098
|
|
|
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
|
|
|
|
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
|
|
|
|
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
|
rs1352573347
|
|
|
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
|
|
|
|
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
|
rs2145265146
|
|
|
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
|
|
|
|
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
|
|
|
|
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
|
|
|
|
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
|
rs921077083
|
|
|
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
|
rs1967172281
|
|
|
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu)
|
rs1967172281
|
|
|
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
|
rs1967171960
|
|
|
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu)
|
rs3745972
|
|
|
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
|
|
|
|
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
|
rs3745972
|
|
|
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
|
rs2145260550
|
|
|
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
|
|
|
|
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
|
|
|
|
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup)
|
rs2145260517
|
|
|
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro)
|
rs2145260532
|
|
|
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
|
|
|
|
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr)
|
rs2145260494
|
|
|
NM_004364.5(CEBPA):c.72C>A (p.His24Gln)
|
rs1555742309
|
|
|
NM_004364.5(CEBPA):c.72C>G (p.His24Gln)
|
rs1555742309
|
|
|
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
|
rs957444896
|
|
|
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
|
|
|
|
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
|
|
|
|
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro)
|
rs1600024440
|
|
|
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
|
rs1967171226
|
|
|
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
|
|
|
|
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser)
|
rs1555742056
|
|
|
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val)
|
rs2145264688
|
|
|
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
|
rs1382832060
|
|
|
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
|
|
|
|
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
|
rs1967170735
|
|
|
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe)
|
rs2145260308
|
|
|
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
|
rs1967170243
|
|
|
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu)
|
rs2145260264
|
|
|
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
|
|
|
|
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
|
|
|
|
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly)
|
rs746895795
|
|
|
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
|
|
|
|
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
|
|
|
|
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
|
|
|
|
NM_004364.5(CEBPA):c.780C>A (p.His260Gln)
|
rs1429055509
|
|
|
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg)
|
rs1184283480
|
|
|
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu)
|
rs747881336
|
|
|
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
|
|
|
|
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
|
|
|
|
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met)
|
rs1555742019
|
|
|
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
|
|
|
|
NM_004364.5(CEBPA):c.797del (p.Ser266fs)
|
rs2145260029
|
|
|
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
|
|
|
|
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
|
rs1967201448
|
|
|
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
|
rs1568419433
|
|
|
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys)
|
rs1568419433
|
|
|
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
|
|
|
|
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr)
|
rs2145264644
|
|
|
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr)
|
rs756632245
|
|
|
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
|
rs756632245
|
|
|
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu)
|
rs2145259941
|
|
|
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly)
|
rs1403352822
|
|
|
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
|
|
|
|
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
|
|
|
|
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
|
|
|
|
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val)
|
rs1162467731
|
|
|
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
|
|
|
|
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
|
|
|
|
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg)
|
rs111662895
|
|
|
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val)
|
rs767673311
|
|
|
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
|
|
|
|
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
|
rs757273086
|
|
|
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
|
|
|
|
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter)
|
rs1269133775
|
|
|
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr)
|
rs1967166324
|
|
|
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly)
|
rs1568419375
|
|
|
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn)
|
rs2145264621
|
|
|
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
|
|
|
|
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
|
|
|
|
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
|
|
|
|
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
|
|
|
|
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
|
|
|
|
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys)
|
rs1002344182
|
|
|
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp)
|
rs376856647
|
|
|
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu)
|
rs2145259628
|
|
|
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser)
|
rs2145264604
|
|
|
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp)
|
rs971619935
|
|
|
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro)
|
rs1064794962
|
|
|
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
|
|
|
|
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
|
rs1967164835
|
|
|
NM_004364.5(CEBPA):c.872G>A (p.Arg291His)
|
rs1967164761
|
|
|
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser)
|
rs776590829
|
|
|
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
|
|
|
|
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met)
|
rs376093748
|
|
|
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser)
|
rs1555742305
|
|
|
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu)
|
rs1600021258
|
|
|
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
|
|
|
|
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs)
|
rs1600021166
|
|
|
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
|
|
|
|
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
|
rs1967163668
|
|
|
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
|
|
|
|
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr)
|
rs867994533
|
|
|
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu)
|
rs747606716
|
|
|
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg)
|
rs1479225242
|
|
|
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
|
|
|
|
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
|
|
|
|
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
|
|
|
|
NM_004364.5(CEBPA):c.921_938del (p.Asn307_Gln312del)
|
|
|
|
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
|
rs1182945213
|
|
|
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
|
rs1182945213
|
|
|
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
|
|
|
|
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
|
|
|
|
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
|
rs1568419235
|
|
|
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly)
|
rs1568419235
|
|
|
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
|
rs1967162539
|
|
|
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu)
|
rs2145258913
|
|
|
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
|
|
|
|
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
|
|
|
|
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
|
|
|
|
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
|
|
|
|
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser)
|
rs1348778034
|
|
|
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro)
|
rs2145258767
|
|
|
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)
|
rs1555741962
|
|
|
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
|
rs1555741962
|
|
|
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn)
|
rs2145258655
|
|
|
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile)
|
rs2145258643
|
|
|
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
|
rs903305652
|
|
|
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
|
|
|
|
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
|
rs1421674520
|
|
|
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
|
|
|
|
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
|
rs781549846
|
|
|
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
|
|
|
|
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
|
rs1967160131
|
|
|
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys)
|
rs1568419162
|
|
|
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro)
|
rs1555741952
|
|
|
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
|
|
|
|
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
|
|
|
|
NM_004385.5(VCAN):c.4616C>A (p.Pro1539His)
|
rs193920883
|
|
|
NM_004444.5(EPHB4):c.971C>A (p.Pro324His)
|
rs1479899915
|
|
|
NM_004448.4(ERBB2):c.2706G>C (p.Gln902His)
|
rs193920750
|
|
|
NM_004465.2(FGF10):c.*723C>A
|
|
|
|
NM_004484.3(GPC3):c.-197-?_*379+?dup
|
|
|
|
NM_004484.4(GPC3):c.1004A>C (p.Gln335Pro)
|
rs2071687961
|
|
|
NM_004484.4(GPC3):c.1004A>G (p.Gln335Arg)
|
|
|
|
NM_004484.4(GPC3):c.1008G>C (p.Lys336Asn)
|
|
|
|
NM_004484.4(GPC3):c.100A>G (p.Thr34Ala)
|
rs1602581109
|
|
|
NM_004484.4(GPC3):c.1012G>A (p.Ala338Thr)
|
|
|
|
NM_004484.4(GPC3):c.1019A>G (p.Lys340Arg)
|
rs1603240431
|
|
|
NM_004484.4(GPC3):c.1020G>C (p.Lys340Asn)
|
rs2124479719
|
|
|
NM_004484.4(GPC3):c.1021C>G (p.Leu341Val)
|
rs1569426033
|
|
|
NM_004484.4(GPC3):c.1027A>G (p.Thr343Ala)
|
rs2071687500
|
|
|
NM_004484.4(GPC3):c.1030A>T (p.Thr344Ser)
|
rs2124479705
|
|
|
NM_004484.4(GPC3):c.1032+4A>G
|
rs2124479692
|
|
|
NM_004484.4(GPC3):c.1032+5G>A
|
rs2071687291
|
|
|
NM_004484.4(GPC3):c.1032T>C (p.Thr344=)
|
rs2124479695
|
|
|
NM_004484.4(GPC3):c.1036G>A (p.Gly346Ser)
|
|
|
|
NM_004484.4(GPC3):c.103T>G (p.Cys35Gly)
|
|
|
|
NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)
|
rs2071153160
|
|
|
NM_004484.4(GPC3):c.1048G>A (p.Ala350Thr)
|
rs2124437635
|
|
|
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)
|
rs2071153064
|
|
|
NM_004484.4(GPC3):c.1058AAC[1] (p.Gln354del)
|
rs1569416621
|
|
|
NM_004484.4(GPC3):c.1069T>G (p.Tyr357Asp)
|
|
|
|
NM_004484.4(GPC3):c.1085A>G (p.Tyr362Cys)
|
rs878854705
|
|
|
NM_004484.4(GPC3):c.1096C>T (p.Leu366Phe)
|
rs2124437551
|
|
|
NM_004484.4(GPC3):c.1099T>A (p.Phe367Ile)
|
|
|
|
NM_004484.4(GPC3):c.1103T>C (p.Ile368Thr)
|
rs1569416581
|
|
|
NM_004484.4(GPC3):c.1105G>A (p.Asp369Asn)
|
|
|
|
NM_004484.4(GPC3):c.1109A>G (p.Lys370Arg)
|
|
|
|
NM_004484.4(GPC3):c.1111A>C (p.Lys371Gln)
|
rs755221081
|
|
|
NM_004484.4(GPC3):c.1130A>T (p.His377Leu)
|
rs1060502172
|
|
|
NM_004484.4(GPC3):c.1139A>C (p.His380Pro)
|
|
|
|
NM_004484.4(GPC3):c.1139A>G (p.His380Arg)
|
rs1201293547
|
|
|
NM_004484.4(GPC3):c.113T>A (p.Val38Asp)
|
rs1602581095
|
|
|
NM_004484.4(GPC3):c.113T>C (p.Val38Ala)
|
rs1602581095
|
|
|
NM_004484.4(GPC3):c.1156A>G (p.Ser386Gly)
|
|
|
|
NM_004484.4(GPC3):c.1158C>A (p.Ser386Arg)
|
rs1317567175
|
|
|
NM_004484.4(GPC3):c.1158C>G (p.Ser386Arg)
|
rs1317567175
|
|
|
NM_004484.4(GPC3):c.1161AAG[1] (p.Arg389del)
|
rs1556271258
|
|
|
NM_004484.4(GPC3):c.1166+3G>A
|
rs1603228263
|
|
|
NM_004484.4(GPC3):c.1166+6A>G
|
rs2124437397
|
|
|
NM_004484.4(GPC3):c.1166G>T (p.Arg389Met)
|
|
|
|
NM_004484.4(GPC3):c.1168G>A (p.Glu390Lys)
|
|
|
|
NM_004484.4(GPC3):c.1169A>C (p.Glu390Ala)
|
|
|
|
NM_004484.4(GPC3):c.116G>T (p.Arg39Leu)
|
|
|
|
NM_004484.4(GPC3):c.1175T>C (p.Ile392Thr)
|
|
|
|
NM_004484.4(GPC3):c.1184T>G (p.Leu395Trp)
|
|
|
|
NM_004484.4(GPC3):c.1187A>G (p.Lys396Arg)
|
|
|
|
NM_004484.4(GPC3):c.1188G>C (p.Lys396Asn)
|
|
|
|
NM_004484.4(GPC3):c.1190C>T (p.Ser397Phe)
|
rs2071074547
|
|
|
NM_004484.4(GPC3):c.1196T>C (p.Ile399Thr)
|
|
|
|
NM_004484.4(GPC3):c.1198A>T (p.Ser400Cys)
|
rs1603226518
|
|
|
NM_004484.4(GPC3):c.1199G>A (p.Ser400Asn)
|
|
|
|
NM_004484.4(GPC3):c.11C>G (p.Thr4Ser)
|
|
|
|
NM_004484.4(GPC3):c.11C>T (p.Thr4Ile)
|
|
|
|
NM_004484.4(GPC3):c.1201T>A (p.Phe401Ile)
|
|
|
|
NM_004484.4(GPC3):c.1205A>G (p.Tyr402Cys)
|
rs1173924969
|
|
|
NM_004484.4(GPC3):c.1208G>C (p.Ser403Thr)
|
|
|
|
NM_004484.4(GPC3):c.1209T>G (p.Ser403Arg)
|
rs1456710707
|
|
|
NM_004484.4(GPC3):c.1214T>C (p.Leu405Ser)
|
rs2071073967
|
|
|
NM_004484.4(GPC3):c.1226T>G (p.Ile409Ser)
|
rs2071073649
|
|
|
NM_004484.4(GPC3):c.1228T>C (p.Cys410Arg)
|
|
|
|
NM_004484.4(GPC3):c.1231A>C (p.Ser411Arg)
|
rs2124430814
|
|
|
NM_004484.4(GPC3):c.1239C>A (p.Ser413Arg)
|
|
|
|
NM_004484.4(GPC3):c.1240C>T (p.Pro414Ser)
|
rs2071073330
|
|
|
NM_004484.4(GPC3):c.1243G>A (p.Val415Met)
|
|
|
|
NM_004484.4(GPC3):c.1262T>G (p.Leu421Arg)
|
|
|
|
NM_004484.4(GPC3):c.1264T>A (p.Cys422Ser)
|
rs1569415183
|
|
|
NM_004484.4(GPC3):c.126C>A (p.Phe42Leu)
|
rs1345541727
|
|
|
NM_004484.4(GPC3):c.1271A>G (p.Asn424Ser)
|
|
|
|
NM_004484.4(GPC3):c.1280A>G (p.Glu427Gly)
|
rs2071072569
|
|
|
NM_004484.4(GPC3):c.1285G>C (p.Val429Leu)
|
rs11539789
|
|
|
NM_004484.4(GPC3):c.1286T>C (p.Val429Ala)
|
rs755117392
|
|
|
NM_004484.4(GPC3):c.1288G>A (p.Glu430Lys)
|
rs2124430649
|
|
|
NM_004484.4(GPC3):c.1293-3C>T
|
|
|
|
NM_004484.4(GPC3):c.1293A>G (p.Arg431=)
|
|
|
|
NM_004484.4(GPC3):c.1301A>G (p.Gln434Arg)
|
|
|
|
NM_004484.4(GPC3):c.1306G>T (p.Ala436Ser)
|
rs1556233681
|
|
|
NM_004484.4(GPC3):c.1310C>G (p.Ala437Gly)
|
|
|
|
NM_004484.4(GPC3):c.1313G>A (p.Arg438Lys)
|
rs2070729910
|
|
|
NM_004484.4(GPC3):c.1315A>G (p.Asn439Asp)
|
rs2070729852
|
|
|
NM_004484.4(GPC3):c.1316A>G (p.Asn439Ser)
|
rs2124401875
|
|
|
NM_004484.4(GPC3):c.1330C>G (p.Gln444Glu)
|
rs1556233629
|
|
|
NM_004484.4(GPC3):c.1331A>G (p.Gln444Arg)
|
|
|
|
NM_004484.4(GPC3):c.1331A>T (p.Gln444Leu)
|
rs1053066164
|
|
|
NM_004484.4(GPC3):c.1336_1341del (p.Asn446_Leu447del)
|
|
|
|
NM_004484.4(GPC3):c.1361G>A (p.Gly454Asp)
|
|
|
|
NM_004484.4(GPC3):c.1367A>G (p.Glu456Gly)
|
|
|
|
NM_004484.4(GPC3):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_004484.4(GPC3):c.136C>G (p.Gln46Glu)
|
rs1556367745
|
|
|
NM_004484.4(GPC3):c.1370C>T (p.Pro457Leu)
|
|
|
|
NM_004484.4(GPC3):c.1381C>G (p.Gln461Glu)
|
rs1603215815
|
|
|
NM_004484.4(GPC3):c.1388T>C (p.Ile463Thr)
|
rs2124401790
|
|
|
NM_004484.4(GPC3):c.1394A>G (p.Lys465Arg)
|
|
|
|
NM_004484.4(GPC3):c.1405A>G (p.Ile469Val)
|
rs2070728648
|
|
|
NM_004484.4(GPC3):c.1409A>G (p.Asn470Ser)
|
rs1556233454
|
|
|
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)
|
rs2076562505
|
|
|
NM_004484.4(GPC3):c.1410C>G (p.Asn470Lys)
|
|
|
|
NM_004484.4(GPC3):c.1413+3A>G
|
rs2124401746
|
|
|
NM_004484.4(GPC3):c.1413+5G>A
|
rs2070728440
|
|
|
NM_004484.4(GPC3):c.1413G>A (p.Gln471=)
|
|
|
|
NM_004484.4(GPC3):c.1414-3C>A
|
|
|
|
NM_004484.4(GPC3):c.1414-3C>T
|
rs2069919599
|
|
|
NM_004484.4(GPC3):c.1424C>T (p.Thr475Ile)
|
rs2069919421
|
|
|
NM_004484.4(GPC3):c.1429T>A (p.Ser477Thr)
|
rs2069919041
|
|
|
NM_004484.4(GPC3):c.1438A>G (p.Lys480Glu)
|
|
|
|
NM_004484.4(GPC3):c.1450C>A (p.Leu484Met)
|
rs2124331070
|
|
|
NM_004484.4(GPC3):c.1453G>A (p.Asp485Asn)
|
rs750171653
|
|
|
NM_004484.4(GPC3):c.1453G>T (p.Asp485Tyr)
|
|
|
|
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)
|
rs2069918325
|
|
|
NM_004484.4(GPC3):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004484.4(GPC3):c.149A>G (p.Lys50Arg)
|
|
|
|
NM_004484.4(GPC3):c.1502A>G (p.Asp501Gly)
|
rs2124330961
|
|
|
NM_004484.4(GPC3):c.1511A>G (p.Glu504Gly)
|
|
|
|
NM_004484.4(GPC3):c.1514G>T (p.Cys505Phe)
|
rs2069917028
|
|
|
NM_004484.4(GPC3):c.1516A>G (p.Ile506Val)
|
rs1603183279
|
|
|
NM_004484.4(GPC3):c.1519G>C (p.Gly507Arg)
|
|
|
|
NM_004484.4(GPC3):c.1523G>T (p.Gly508Val)
|
|
|
|
NM_004484.4(GPC3):c.1528G>A (p.Gly510Ser)
|
rs1556159260
|
|
|
NM_004484.4(GPC3):c.1534G>A (p.Gly512Arg)
|
rs1556159239
|
|
|
NM_004484.4(GPC3):c.1537A>C (p.Met513Leu)
|
rs2069916427
|
|
|
NM_004484.4(GPC3):c.1538T>A (p.Met513Lys)
|
rs2069916333
|
|
|
NM_004484.4(GPC3):c.1539G>A (p.Met513Ile)
|
|
|
|
NM_004484.4(GPC3):c.1541T>C (p.Ile514Thr)
|
|
|
|
NM_004484.4(GPC3):c.1553A>G (p.Asn518Ser)
|
|
|
|
NM_004484.4(GPC3):c.1553A>T (p.Asn518Ile)
|
rs2069915935
|
|
|
NM_004484.4(GPC3):c.1562G>A (p.Arg521His)
|
rs2069915768
|
|
|
NM_004484.4(GPC3):c.1571C>A (p.Ala524Glu)
|
|
|
|
NM_004484.4(GPC3):c.1573+5C>T
|
|
|
|
NM_004484.4(GPC3):c.1574-3C>A
|
|
|
|
NM_004484.4(GPC3):c.1582T>C (p.Tyr528His)
|
rs779769588
|
|
|
NM_004484.4(GPC3):c.1586A>G (p.Asp529Gly)
|
|
|
|
NM_004484.4(GPC3):c.1587T>A (p.Asp529Glu)
|
|
|
|
NM_004484.4(GPC3):c.158C>T (p.Pro53Leu)
|
|
|
|
NM_004484.4(GPC3):c.1592A>T (p.Asp531Val)
|
rs2069291115
|
|
|
NM_004484.4(GPC3):c.1594G>T (p.Val532Leu)
|
rs1603139499
|
|
|
NM_004484.4(GPC3):c.1595T>C (p.Val532Ala)
|
|
|
|
NM_004484.4(GPC3):c.1598ATG[1] (p.Asp534del)
|
|
|
|
NM_004484.4(GPC3):c.1600G>A (p.Asp534Asn)
|
rs2069290892
|
|
|
NM_004484.4(GPC3):c.1606C>T (p.Pro536Ser)
|
|
|
|
NM_004484.4(GPC3):c.1610G>C (p.Gly537Ala)
|
rs2069290389
|
|
|
NM_004484.4(GPC3):c.1613A>G (p.Asn538Ser)
|
rs2124257689
|
|
|
NM_004484.4(GPC3):c.1615A>G (p.Ser539Gly)
|
rs2069290326
|
|
|
NM_004484.4(GPC3):c.1617T>A (p.Ser539Arg)
|
|
|
|
NM_004484.4(GPC3):c.1631C>G (p.Pro544Arg)
|
|
|
|
NM_004484.4(GPC3):c.1636G>A (p.Asp546Asn)
|
rs2069289779
|
|
|
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)
|
rs2069289549
|
|
|
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)
|
rs2124257541
|
|
|
NM_004484.4(GPC3):c.1649G>C (p.Ser550Thr)
|
rs2069289201
|
|
|
NM_004484.4(GPC3):c.1659C>G (p.His553Gln)
|
rs2069288907
|
|
|
NM_004484.4(GPC3):c.1661A>G (p.Asn554Ser)
|
rs2069288846
|
|
|
NM_004484.4(GPC3):c.1661A>T (p.Asn554Ile)
|
|
|
|
NM_004484.4(GPC3):c.1663C>T (p.Leu555Phe)
|
rs990733015
|
|
|
NM_004484.4(GPC3):c.1669A>T (p.Asn557Tyr)
|
rs2069288554
|
|
|
NM_004484.4(GPC3):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_004484.4(GPC3):c.1672G>A (p.Val558Ile)
|
rs2069288412
|
|
|
NM_004484.4(GPC3):c.1675C>T (p.His559Tyr)
|
|
|
|
NM_004484.4(GPC3):c.1676A>G (p.His559Arg)
|
|
|
|
NM_004484.4(GPC3):c.1679C>T (p.Ser560Phe)
|
|
|
|
NM_004484.4(GPC3):c.1681C>T (p.Pro561Ser)
|
rs1569375662
|
|
|
NM_004484.4(GPC3):c.1696A>G (p.Thr566Ala)
|
rs2069287938
|
|
|
NM_004484.4(GPC3):c.169G>A (p.Val57Met)
|
rs2076562120
|
|
|
NM_004484.4(GPC3):c.16C>G (p.Arg6Gly)
|
|
|
|
NM_004484.4(GPC3):c.1700G>C (p.Ser567Thr)
|
|
|
|
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)
|
rs122453120
|
|
|
NM_004484.4(GPC3):c.170T>G (p.Val57Gly)
|
rs2124655641
|
|
|
NM_004484.4(GPC3):c.1711T>C (p.Ser571Pro)
|
rs2069287413
|
|
|
NM_004484.4(GPC3):c.1712C>T (p.Ser571Leu)
|
|
|
|
NM_004484.4(GPC3):c.1714G>A (p.Val572Met)
|
rs2069287188
|
|
|
NM_004484.4(GPC3):c.1714G>T (p.Val572Leu)
|
rs2069287188
|
|
|
NM_004484.4(GPC3):c.1718T>C (p.Val573Ala)
|
rs1603139289
|
|
|
NM_004484.4(GPC3):c.1723TTC[2] (p.Phe577del)
|
rs1269354535
|
|
|
NM_004484.4(GPC3):c.1734G>A (p.Leu578=)
|
rs2124257150
|
|
|
NM_004484.4(GPC3):c.1735G>A (p.Val579Met)
|
|
|
|
NM_004484.4(GPC3):c.1738C>T (p.His580Tyr)
|
rs1060502173
|
|
|
NM_004484.4(GPC3):c.1739A>C (p.His580Pro)
|
|
|
|
NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu)
|
|
|
|
NM_004484.4(GPC3):c.176G>A (p.Gly59Glu)
|
|
|
|
NM_004484.4(GPC3):c.17G>T (p.Arg6Leu)
|
|
|
|
NM_004484.4(GPC3):c.181G>C (p.Asp61His)
|
rs2124634901
|
|
|
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro)
|
rs773144223
|
|
|
NM_004484.4(GPC3):c.19A>T (p.Thr7Ser)
|
|
|
|
NM_004484.4(GPC3):c.204G>T (p.Lys68Asn)
|
rs61754632
|
|
|
NM_004484.4(GPC3):c.205G>T (p.Gly69Cys)
|
rs2124634887
|
|
|
NM_004484.4(GPC3):c.209C>T (p.Pro70Leu)
|
|
|
|
NM_004484.4(GPC3):c.220T>G (p.Ser74Ala)
|
rs1556359373
|
|
|
NM_004484.4(GPC3):c.227A>G (p.Lys76Arg)
|
|
|
|
NM_004484.4(GPC3):c.236A>G (p.Glu79Gly)
|
rs2076400695
|
|
|
NM_004484.4(GPC3):c.23C>T (p.Ala8Val)
|
rs1322259717
|
|
|
NM_004484.4(GPC3):c.248T>G (p.Leu83Arg)
|
|
|
|
NM_004484.4(GPC3):c.257G>T (p.Arg86Leu)
|
|
|
|
NM_004484.4(GPC3):c.265A>G (p.Met89Val)
|
rs1569458698
|
|
|
NM_004484.4(GPC3):c.265A>T (p.Met89Leu)
|
rs1569458698
|
|
|
NM_004484.4(GPC3):c.268G>A (p.Glu90Lys)
|
rs866063769
|
|
|
NM_004484.4(GPC3):c.27C>G (p.Cys9Trp)
|
|
|
|
NM_004484.4(GPC3):c.281A>G (p.Gln94Arg)
|
|
|
|
NM_004484.4(GPC3):c.287C>T (p.Ala96Val)
|
|
|
|
NM_004484.4(GPC3):c.289A>G (p.Ser97Gly)
|
rs2124634767
|
|
|
NM_004484.4(GPC3):c.290G>A (p.Ser97Asn)
|
|
|
|
NM_004484.4(GPC3):c.290G>C (p.Ser97Thr)
|
rs2076400276
|
|
|
NM_004484.4(GPC3):c.301A>C (p.Lys101Gln)
|
rs766042778
|
|
|
NM_004484.4(GPC3):c.305T>C (p.Phe102Ser)
|
rs1569458691
|
|
|
NM_004484.4(GPC3):c.310A>C (p.Ile104Leu)
|
|
|
|
NM_004484.4(GPC3):c.317A>C (p.Gln106Pro)
|
|
|
|
NM_004484.4(GPC3):c.326C>A (p.Ala109Glu)
|
rs761660909
|
|
|
NM_004484.4(GPC3):c.329T>C (p.Val110Ala)
|
rs2076399979
|
|
|
NM_004484.4(GPC3):c.337+5G>A
|
rs2076399944
|
|
|
NM_004484.4(GPC3):c.341C>A (p.Ala114Asp)
|
rs2071703691
|
|
|
NM_004484.4(GPC3):c.341C>G (p.Ala114Gly)
|
|
|
|
NM_004484.4(GPC3):c.343T>C (p.Phe115Leu)
|
|
|
|
NM_004484.4(GPC3):c.34G>A (p.Val12Met)
|
rs748152935
|
|
|
NM_004484.4(GPC3):c.351T>G (p.Ile117Met)
|
rs1603240797
|
|
|
NM_004484.4(GPC3):c.352GTT[1] (p.Val119del)
|
|
|
|
NM_004484.4(GPC3):c.353T>C (p.Val118Ala)
|
rs2124480956
|
|
|
NM_004484.4(GPC3):c.355G>T (p.Val119Phe)
|
rs1060502171
|
|
|
NM_004484.4(GPC3):c.37G>C (p.Ala13Pro)
|
rs2124655865
|
|
|
NM_004484.4(GPC3):c.380A>T (p.Asn127Ile)
|
rs2124480910
|
|
|
NM_004484.4(GPC3):c.381T>A (p.Asn127Lys)
|
rs2124480908
|
|
|
NM_004484.4(GPC3):c.382G>A (p.Ala128Thr)
|
|
|
|
NM_004484.4(GPC3):c.383C>A (p.Ala128Asp)
|
|
|
|
NM_004484.4(GPC3):c.385A>T (p.Met129Leu)
|
rs1004380086
|
|
|
NM_004484.4(GPC3):c.386T>C (p.Met129Thr)
|
|
|
|
NM_004484.4(GPC3):c.388T>A (p.Phe130Ile)
|
rs2071702654
|
|
|
NM_004484.4(GPC3):c.395A>G (p.Asn132Ser)
|
rs2124480870
|
|
|
NM_004484.4(GPC3):c.396C>A (p.Asn132Lys)
|
rs2124480866
|
|
|
NM_004484.4(GPC3):c.413C>T (p.Thr138Ile)
|
|
|
|
NM_004484.4(GPC3):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_004484.4(GPC3):c.41T>C (p.Met14Thr)
|
|
|
|
NM_004484.4(GPC3):c.421G>T (p.Ala141Ser)
|
rs1360346581
|
|
|
NM_004484.4(GPC3):c.422C>A (p.Ala141Asp)
|
rs2124480829
|
|
|
NM_004484.4(GPC3):c.43C>A (p.Leu15Met)
|
rs1174879539
|
|
|
NM_004484.4(GPC3):c.451G>A (p.Asp151Asn)
|
rs2124480809
|
|
|
NM_004484.4(GPC3):c.452A>G (p.Asp151Gly)
|
rs2071701855
|
|
|
NM_004484.4(GPC3):c.455T>C (p.Val152Ala)
|
|
|
|
NM_004484.4(GPC3):c.458C>T (p.Ser153Phe)
|
rs1310073855
|
|
|
NM_004484.4(GPC3):c.460C>G (p.Leu154Val)
|
|
|
|
NM_004484.4(GPC3):c.46C>T (p.Leu16Phe)
|
rs2124655846
|
|
|
NM_004484.4(GPC3):c.472G>C (p.Gly158Arg)
|
rs2124480744
|
|
|
NM_004484.4(GPC3):c.473G>A (p.Gly158Asp)
|
rs2124480739
|
|
|
NM_004484.4(GPC3):c.479A>G (p.Asp160Gly)
|
|
|
|
NM_004484.4(GPC3):c.485A>T (p.Asn162Ile)
|
|
|
|
NM_004484.4(GPC3):c.491A>G (p.Asp164Gly)
|
rs1569426363
|
|
|
NM_004484.4(GPC3):c.492T>G (p.Asp164Glu)
|
|
|
|
NM_004484.4(GPC3):c.493G>A (p.Asp165Asn)
|
rs2124480689
|
|
|
NM_004484.4(GPC3):c.493G>C (p.Asp165His)
|
rs2124480689
|
|
|
NM_004484.4(GPC3):c.497T>C (p.Met166Thr)
|
rs2071700722
|
|
|
NM_004484.4(GPC3):c.49A>T (p.Ser17Cys)
|
rs2076563807
|
|
|
NM_004484.4(GPC3):c.500T>C (p.Val167Ala)
|
rs2071700646
|
|
|
NM_004484.4(GPC3):c.502A>G (p.Asn168Asp)
|
rs2071700573
|
|
|
NM_004484.4(GPC3):c.505G>A (p.Glu169Lys)
|
rs2071700502
|
|
|
NM_004484.4(GPC3):c.513T>G (p.Phe171Leu)
|
|
|
|
NM_004484.4(GPC3):c.518G>A (p.Ser173Asn)
|
rs2071700052
|
|
|
NM_004484.4(GPC3):c.520C>A (p.Leu174Met)
|
rs1603240710
|
|
|
NM_004484.4(GPC3):c.520C>G (p.Leu174Val)
|
rs1603240710
|
|
|
NM_004484.4(GPC3):c.535T>G (p.Tyr179Asp)
|
|
|
|
NM_004484.4(GPC3):c.539C>T (p.Thr180Ile)
|
|
|
|
NM_004484.4(GPC3):c.53T>C (p.Leu18Ser)
|
rs1011652636
|
|
|
NM_004484.4(GPC3):c.53T>G (p.Leu18Trp)
|
rs1011652636
|
|
|
NM_004484.4(GPC3):c.545T>C (p.Leu182Pro)
|
|
|
|
NM_004484.4(GPC3):c.562C>G (p.Pro188Ala)
|
rs2071699046
|
|
|
NM_004484.4(GPC3):c.565G>A (p.Asp189Asn)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.565G>C (p.Asp189His)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.565G>T (p.Asp189Tyr)
|
rs900143355
|
|
|
NM_004484.4(GPC3):c.567T>G (p.Asp189Glu)
|
rs2124480565
|
|
|
NM_004484.4(GPC3):c.571G>A (p.Ala191Thr)
|
rs1603240684
|
|
|
NM_004484.4(GPC3):c.576G>C (p.Leu192Phe)
|
rs2071698705
|
|
|
NM_004484.4(GPC3):c.583A>G (p.Asn195Asp)
|
rs2071698474
|
|
|
NM_004484.4(GPC3):c.592C>T (p.Leu198Phe)
|
rs2124480498
|
|
|
NM_004484.4(GPC3):c.593T>C (p.Leu198Pro)
|
|
|
|
NM_004484.4(GPC3):c.602C>A (p.Ala201Glu)
|
rs201344338
|
|
|
NM_004484.4(GPC3):c.602C>T (p.Ala201Val)
|
rs201344338
|
|
|
NM_004484.4(GPC3):c.605G>C (p.Arg202Thr)
|
|
|
|
NM_004484.4(GPC3):c.612C>A (p.Asp204Glu)
|
rs2071697475
|
|
|
NM_004484.4(GPC3):c.61C>A (p.Pro21Thr)
|
rs2076563698
|
|
|
NM_004484.4(GPC3):c.634C>T (p.Pro212Ser)
|
|
|
|
NM_004484.4(GPC3):c.643A>G (p.Ile215Val)
|
|
|
|
NM_004484.4(GPC3):c.644T>C (p.Ile215Thr)
|
|
|
|
NM_004484.4(GPC3):c.646A>G (p.Met216Val)
|
rs1556297755
|
|
|
NM_004484.4(GPC3):c.648G>A (p.Met216Ile)
|
|
|
|
NM_004484.4(GPC3):c.650C>T (p.Thr217Ile)
|
rs2124480389
|
|
|
NM_004484.4(GPC3):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_004484.4(GPC3):c.658T>C (p.Ser220Pro)
|
|
|
|
NM_004484.4(GPC3):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_004484.4(GPC3):c.674T>G (p.Val225Gly)
|
|
|
|
NM_004484.4(GPC3):c.67C>G (p.Gln23Glu)
|
|
|
|
NM_004484.4(GPC3):c.682A>G (p.Ile228Val)
|
|
|
|
NM_004484.4(GPC3):c.682A>T (p.Ile228Phe)
|
rs774682860
|
|
|
NM_004484.4(GPC3):c.68A>G (p.Gln23Arg)
|
rs866488565
|
|
|
NM_004484.4(GPC3):c.691C>G (p.Gln231Glu)
|
|
|
|
NM_004484.4(GPC3):c.695C>T (p.Ala232Val)
|
rs1206002281
|
|
|
NM_004484.4(GPC3):c.697C>G (p.Leu233Val)
|
|
|
|
NM_004484.4(GPC3):c.701A>G (p.Asn234Ser)
|
|
|
|
NM_004484.4(GPC3):c.710T>C (p.Ile237Thr)
|
|
|
|
NM_004484.4(GPC3):c.715G>A (p.Val239Met)
|
|
|
|
NM_004484.4(GPC3):c.719T>A (p.Ile240Asn)
|
|
|
|
NM_004484.4(GPC3):c.71C>T (p.Ala24Val)
|
rs1569462740
|
|
|
NM_004484.4(GPC3):c.722A>G (p.Asn241Ser)
|
rs1603240573
|
|
|
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro)
|
rs2071694723
|
|
|
NM_004484.4(GPC3):c.743T>C (p.Phe248Ser)
|
|
|
|
NM_004484.4(GPC3):c.746G>A (p.Ser249Asn)
|
rs2124480231
|
|
|
NM_004484.4(GPC3):c.752A>T (p.Asp251Val)
|
|
|
|
NM_004484.4(GPC3):c.755G>T (p.Cys252Phe)
|
rs2071694353
|
|
|
NM_004484.4(GPC3):c.757G>A (p.Gly253Ser)
|
rs2124480212
|
|
|
NM_004484.4(GPC3):c.75G>T (p.Gln25His)
|
rs2076563500
|
|
|
NM_004484.4(GPC3):c.769A>T (p.Thr257Ser)
|
|
|
|
NM_004484.4(GPC3):c.76C>T (p.Pro26Ser)
|
rs1569462736
|
|
|
NM_004484.4(GPC3):c.773G>A (p.Arg258Lys)
|
|
|
|
NM_004484.4(GPC3):c.779G>C (p.Trp260Ser)
|
|
|
|
NM_004484.4(GPC3):c.785G>A (p.Cys262Tyr)
|
rs2071693746
|
|
|
NM_004484.4(GPC3):c.788C>G (p.Ser263Cys)
|
rs1060502170
|
|
|
NM_004484.4(GPC3):c.78_83del (p.Pro30_Pro31del)
|
rs2124655769
|
|
|
NM_004484.4(GPC3):c.78_86dup (p.Pro29_Pro31dup)
|
rs2076563342
|
|
|
NM_004484.4(GPC3):c.790T>A (p.Tyr264Asn)
|
|
|
|
NM_004484.4(GPC3):c.79CCG[3] (p.Pro30_Pro31del)
|
rs749104500
|
|
|
NM_004484.4(GPC3):c.79CCG[4] (p.Pro31del)
|
|
|
|
NM_004484.4(GPC3):c.79CCG[7] (p.Pro31_Asp32insProPro)
|
|
|
|
NM_004484.4(GPC3):c.7G>C (p.Gly3Arg)
|
|
|
|
NM_004484.4(GPC3):c.80C>T (p.Pro27Leu)
|
rs1556367809
|
|
|
NM_004484.4(GPC3):c.811G>T (p.Val271Phe)
|
|
|
|
NM_004484.4(GPC3):c.823G>A (p.Gly275Ser)
|
rs2124480115
|
|
|
NM_004484.4(GPC3):c.832T>C (p.Cys278Arg)
|
rs1556297671
|
|
|
NM_004484.4(GPC3):c.833G>A (p.Cys278Tyr)
|
rs2071692820
|
|
|
NM_004484.4(GPC3):c.838G>A (p.Val280Met)
|
rs1556297668
|
|
|
NM_004484.4(GPC3):c.839T>A (p.Val280Glu)
|
rs764111452
|
|
|
NM_004484.4(GPC3):c.839T>C (p.Val280Ala)
|
|
|
|
NM_004484.4(GPC3):c.83C>T (p.Pro28Leu)
|
|
|
|
NM_004484.4(GPC3):c.840G>A (p.Val280=)
|
rs2071692419
|
|
|
NM_004484.4(GPC3):c.850G>A (p.Gly284Ser)
|
rs2071692255
|
|
|
NM_004484.4(GPC3):c.851G>C (p.Gly284Ala)
|
rs2071692187
|
|
|
NM_004484.4(GPC3):c.862G>A (p.Gly288Ser)
|
rs2124480046
|
|
|
NM_004484.4(GPC3):c.869T>C (p.Val290Ala)
|
rs1244073847
|
|
|
NM_004484.4(GPC3):c.86C>T (p.Pro29Leu)
|
|
|
|
NM_004484.4(GPC3):c.876T>G (p.Ile292Met)
|
rs61754633
|
|
|
NM_004484.4(GPC3):c.880A>G (p.Lys294Glu)
|
rs1294158180
|
|
|
NM_004484.4(GPC3):c.882G>T (p.Lys294Asn)
|
|
|
|
NM_004484.4(GPC3):c.88C>T (p.Pro30Ser)
|
|
|
|
NM_004484.4(GPC3):c.890G>A (p.Arg297Lys)
|
rs2071690867
|
|
|
NM_004484.4(GPC3):c.892G>C (p.Glu298Gln)
|
rs2124479949
|
|
|
NM_004484.4(GPC3):c.895T>C (p.Tyr299His)
|
|
|
|
NM_004484.4(GPC3):c.896A>C (p.Tyr299Ser)
|
|
|
|
NM_004484.4(GPC3):c.896A>G (p.Tyr299Cys)
|
rs2071690786
|
|
|
NM_004484.4(GPC3):c.901C>A (p.Leu301Met)
|
|
|
|
NM_004484.4(GPC3):c.907C>G (p.Leu303Val)
|
rs2071690519
|
|
|
NM_004484.4(GPC3):c.90_91insACG (p.Pro30_Pro31insThr)
|
rs1210386432
|
|
|
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)
|
rs903266102
|
|
|
NM_004484.4(GPC3):c.914A>C (p.Glu305Ala)
|
|
|
|
NM_004484.4(GPC3):c.919G>T (p.Val307Leu)
|
|
|
|
NM_004484.4(GPC3):c.923A>G (p.Asn308Ser)
|
|
|
|
NM_004484.4(GPC3):c.925G>A (p.Gly309Ser)
|
|
|
|
NM_004484.4(GPC3):c.92C>T (p.Pro31Leu)
|
rs1602581126
|
|
|
NM_004484.4(GPC3):c.937A>G (p.Ile313Val)
|
|
|
|
NM_004484.4(GPC3):c.938T>A (p.Ile313Asn)
|
|
|
|
NM_004484.4(GPC3):c.940T>A (p.Tyr314Asn)
|
rs2124479870
|
|
|
NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys)
|
rs1569426081
|
|
|
NM_004484.4(GPC3):c.943G>T (p.Asp315Tyr)
|
rs2124479854
|
|
|
NM_004484.4(GPC3):c.945C>G (p.Asp315Glu)
|
rs1027587308
|
|
|
NM_004484.4(GPC3):c.94G>A (p.Asp32Asn)
|
|
|
|
NM_004484.4(GPC3):c.964G>C (p.Gly322Arg)
|
|
|
|
NM_004484.4(GPC3):c.976A>T (p.Thr326Ser)
|
|
|
|
NM_004484.4(GPC3):c.977C>T (p.Thr326Ile)
|
rs900270133
|
|
|
NM_004484.4(GPC3):c.97G>A (p.Ala33Thr)
|
|
|
|
NM_004484.4(GPC3):c.97G>T (p.Ala33Ser)
|
rs2124655722
|
|
|
NM_004484.4(GPC3):c.989C>T (p.Ser330Phe)
|
|
|
|
NM_004484.4(GPC3):c.98C>T (p.Ala33Val)
|
rs2076563148
|
|
|
NM_004484.4(GPC3):c.997T>G (p.Tyr333Asp)
|
|
|
|
NM_004491.5(ARHGAP35):c.1959_1960delinsAA (p.Pro654Thr)
|
rs869312173
|
|
|
NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile)
|
rs193920887
|
|
|
NM_004562.3(PRKN):c.*140A>G
|
rs1182122095
|
|
|
NM_004569.5(PIGH):c.471C>G (p.Phe157Leu)
|
rs193920948
|
|
|
NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu)
|
rs869025229
|
|
|
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs)
|
rs768265778
|
|
|
NM_004655.4(AXIN2):c.1008A>C (p.Glu336Asp)
|
rs1598104258
|
|
|
NM_004655.4(AXIN2):c.100C>G (p.Pro34Ala)
|
rs574154714
|
|
|
NM_004655.4(AXIN2):c.1040T>C (p.Val347Ala)
|
|
|
|
NM_004655.4(AXIN2):c.1042T>C (p.Ser348Pro)
|
|
|
|
NM_004655.4(AXIN2):c.1049C>T (p.Pro350Leu)
|
rs1434576661
|
|
|
NM_004655.4(AXIN2):c.1069C>T (p.Arg357Cys)
|
rs755884266
|
|
|
NM_004655.4(AXIN2):c.1127C>T (p.Ser376Leu)
|
rs772908702
|
|
|
NM_004655.4(AXIN2):c.112_120del (p.Pro38_Val40del)
|
rs775217472
|
|
|
NM_004655.4(AXIN2):c.1145A>C (p.Lys382Thr)
|
rs878854717
|
|
|
NM_004655.4(AXIN2):c.1160G>A (p.Ser387Asn)
|
rs2043979107
|
|
|
NM_004655.4(AXIN2):c.1162C>T (p.Arg388Cys)
|
rs886053273
|
|
|
NM_004655.4(AXIN2):c.118G>A (p.Val40Met)
|
rs1555583743
|
|
|
NM_004655.4(AXIN2):c.1200+3A>G
|
rs1248714399
|
|
|
NM_004655.4(AXIN2):c.1200G>A (p.Glu400=)
|
rs772748458
|
|
|
NM_004655.4(AXIN2):c.1202A>G (p.Asp401Gly)
|
rs772221969
|
|
|
NM_004655.4(AXIN2):c.1207_1209del (p.Glu403del)
|
rs1064793048
|
|
|
NM_004655.4(AXIN2):c.1229C>T (p.Thr410Ile)
|
rs1555578117
|
|
|
NM_004655.4(AXIN2):c.1256C>G (p.Thr419Arg)
|
|
|
|
NM_004655.4(AXIN2):c.1399C>G (p.Pro467Ala)
|
|
|
|
NM_004655.4(AXIN2):c.1415A>G (p.His472Arg)
|
rs749012756
|
|
|
NM_004655.4(AXIN2):c.1496T>G (p.Leu499Arg)
|
|
|
|
NM_004655.4(AXIN2):c.14T>A (p.Met5Lys)
|
rs730881397
|
|
|
NM_004655.4(AXIN2):c.14T>G (p.Met5Arg)
|
rs730881397
|
|
|
NM_004655.4(AXIN2):c.1504G>T (p.Gly502Cys)
|
rs978541876
|
|
|
NM_004655.4(AXIN2):c.1505G>A (p.Gly502Asp)
|
|
|
|
NM_004655.4(AXIN2):c.1516G>A (p.Val506Met)
|
rs1250017056
|
|
|
NM_004655.4(AXIN2):c.1528A>G (p.Thr510Ala)
|
rs1598098899
|
|
|
NM_004655.4(AXIN2):c.1555A>C (p.Ile519Leu)
|
rs146769008
|
|
|
NM_004655.4(AXIN2):c.1601A>G (p.Glu534Gly)
|
|
|
|
NM_004655.4(AXIN2):c.1620C>G (p.His540Gln)
|
rs900138742
|
|
|
NM_004655.4(AXIN2):c.1633G>A (p.Gly545Arg)
|
rs148951121
|
|
|
NM_004655.4(AXIN2):c.1634G>C (p.Gly545Ala)
|
|
|
|
NM_004655.4(AXIN2):c.166A>G (p.Arg56Gly)
|
|
|
|
NM_004655.4(AXIN2):c.1676C>G (p.Ser559Cys)
|
rs1060502126
|
|
|
NM_004655.4(AXIN2):c.167G>A (p.Arg56Lys)
|
rs1567769454
|
|
|
NM_004655.4(AXIN2):c.1709T>C (p.Phe570Ser)
|
|
|
|
NM_004655.4(AXIN2):c.1730C>A (p.Thr577Asn)
|
rs760939811
|
|
|
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp)
|
rs567511335
|
|
|
NM_004655.4(AXIN2):c.1759G>A (p.Glu587Lys)
|
rs1344107562
|
|
|
NM_004655.4(AXIN2):c.1783A>G (p.Arg595Gly)
|
rs1555577433
|
|
|
NM_004655.4(AXIN2):c.1786G>A (p.Glu596Lys)
|
rs2043935287
|
|
|
NM_004655.4(AXIN2):c.1795G>T (p.Ala599Ser)
|
rs1060502129
|
|
|
NM_004655.4(AXIN2):c.1825C>T (p.Pro609Ser)
|
rs1389567952
|
|
|
NM_004655.4(AXIN2):c.1828C>T (p.Arg610Trp)
|
rs776445861
|
|
|
NM_004655.4(AXIN2):c.1874A>C (p.Glu625Ala)
|
rs1460236827
|
|
|
NM_004655.4(AXIN2):c.1883G>A (p.Arg628Gln)
|
rs2043931823
|
|
|
NM_004655.4(AXIN2):c.1894C>T (p.Pro632Ser)
|
|
|
|
NM_004655.4(AXIN2):c.1934C>T (p.Pro645Leu)
|
rs730881405
|
|
|
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp)
|
rs74006838
|
|
|
NM_004655.4(AXIN2):c.1967G>A (p.Arg656Gln)
|
rs1555577180
|
|
|
NM_004655.4(AXIN2):c.1974C>G (p.Ser658Arg)
|
rs751216221
|
|
|
NM_004655.4(AXIN2):c.2047C>G (p.Pro683Ala)
|
rs1598096797
|
|
|
NM_004655.4(AXIN2):c.2048C>T (p.Pro683Leu)
|
rs1555577092
|
|
|
NM_004655.4(AXIN2):c.2050G>A (p.Ala684Thr)
|
rs1393284650
|
|
|
NM_004655.4(AXIN2):c.2102G>C (p.Cys701Ser)
|
rs1060502130
|
|
|
NM_004655.4(AXIN2):c.2117A>G (p.Glu706Gly)
|
rs1598096605
|
|
|
NM_004655.4(AXIN2):c.2206C>A (p.Pro736Thr)
|
rs951676348
|
|
|
NM_004655.4(AXIN2):c.2223C>G (p.Ser741Arg)
|
rs1002755638
|
|
|
NM_004655.4(AXIN2):c.2236G>T (p.Asp746Tyr)
|
|
|
|
NM_004655.4(AXIN2):c.2302T>C (p.Tyr768His)
|
rs750962952
|
|
|
NM_004655.4(AXIN2):c.232T>G (p.Trp78Gly)
|
|
|
|
NM_004655.4(AXIN2):c.2383C>G (p.Leu795Val)
|
rs2043865311
|
|
|
NM_004655.4(AXIN2):c.2427C>A (p.Ser809Arg)
|
|
|
|
NM_004655.4(AXIN2):c.2437G>A (p.Ala813Thr)
|
rs372420075
|
|
|
NM_004655.4(AXIN2):c.2489T>G (p.Met830Arg)
|
|
|
|
NM_004655.4(AXIN2):c.2527G>A (p.Asp843Asn)
|
rs1249731868
|
|
|
NM_004655.4(AXIN2):c.349T>G (p.Phe117Val)
|
|
|
|
NM_004655.4(AXIN2):c.34G>T (p.Asp12Tyr)
|
rs1064793821
|
|
|
NM_004655.4(AXIN2):c.368A>C (p.Lys123Thr)
|
rs2044303118
|
|
|
NM_004655.4(AXIN2):c.369G>T (p.Lys123Asn)
|
|
|
|
NM_004655.4(AXIN2):c.426C>G (p.Asn142Lys)
|
rs1322519354
|
|
|
NM_004655.4(AXIN2):c.440A>G (p.Lys147Arg)
|
rs1567768991
|
|
|
NM_004655.4(AXIN2):c.45C>A (p.Ser15Arg)
|
|
|
|
NM_004655.4(AXIN2):c.47G>A (p.Ser16Asn)
|
|
|
|
NM_004655.4(AXIN2):c.503C>T (p.Ser168Phe)
|
|
|
|
NM_004655.4(AXIN2):c.575C>G (p.Thr192Ser)
|
|
|
|
NM_004655.4(AXIN2):c.590T>A (p.Leu197His)
|
|
|
|
NM_004655.4(AXIN2):c.590T>G (p.Leu197Arg)
|
rs2044297524
|
|
|
NM_004655.4(AXIN2):c.593A>C (p.Glu198Ala)
|
rs1555583360
|
|
|
NM_004655.4(AXIN2):c.605G>T (p.Ser202Ile)
|
|
|
|
NM_004655.4(AXIN2):c.608G>C (p.Gly203Ala)
|
rs1555583340
|
|
|
NM_004655.4(AXIN2):c.646G>A (p.Gly216Arg)
|
rs1555583315
|
|
|
NM_004655.4(AXIN2):c.667G>A (p.Gly223Ser)
|
rs878854733
|
|
|
NM_004655.4(AXIN2):c.686A>G (p.Asn229Ser)
|
rs764704332
|
|
|
NM_004655.4(AXIN2):c.739G>A (p.Val247Met)
|
rs755206242
|
|
|
NM_004655.4(AXIN2):c.742G>T (p.Val248Phe)
|
|
|
|
NM_004655.4(AXIN2):c.766A>G (p.Arg256Gly)
|
|
|
|
NM_004655.4(AXIN2):c.794A>C (p.Glu265Ala)
|
rs2044291927
|
|
|
NM_004655.4(AXIN2):c.796A>G (p.Thr266Ala)
|
rs1555583178
|
|
|
NM_004655.4(AXIN2):c.826A>G (p.Arg276Gly)
|
|
|
|
NM_004655.4(AXIN2):c.875C>T (p.Ala292Val)
|
|
|
|
NM_004655.4(AXIN2):c.907T>A (p.Ser303Thr)
|
|
|
|
NM_004655.4(AXIN2):c.952A>G (p.Ser318Gly)
|
rs1555581191
|
|
|
NM_004655.4(AXIN2):c.958G>C (p.Asp320His)
|
rs1060502136
|
|
|
NM_004655.4(AXIN2):c.986G>A (p.Ser329Asn)
|
rs774353403
|
|
|
NM_004655.4(AXIN2):c.994C>A (p.Gln332Lys)
|
rs1020958689
|
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
|
NM_004711.5(SYNGR1):c.483+1398C>T
|
rs193920982
|
|
|
NM_004713.6(NEMF):c.2431_2432del (p.Gln811fs)
|
rs864622015
|
|
|
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg)
|
rs869025235
|
|
|
NM_004774.4(MED1):c.632T>G (p.Leu211Arg)
|
rs193921049
|
|
|
NM_004853.3(STX8):c.434A>C (p.Gln145Pro)
|
rs193920742
|
|
|
NM_004946.3(DOCK2):c.3352G>T (p.Glu1118Ter)
|
rs864622013
|
|
|
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
|
|
|
|
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)
|
rs2130546358
|
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
|
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe)
|
rs193920755
|
|
|
NM_004985.5(KRAS):c.-10C>G
|
|
|
|
NM_004985.5(KRAS):c.-11-10T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-12T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-12T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-1G>C
|
|
|
|
NM_004985.5(KRAS):c.-11-21T>G
|
|
|
|
NM_004985.5(KRAS):c.-11-2A>C
|
|
|
|
NM_004985.5(KRAS):c.-11-2A>T
|
|
|
|
NM_004985.5(KRAS):c.-11-36C>T
|
|
|
|
NM_004985.5(KRAS):c.-11-4T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-51del
|
|
|
|
NM_004985.5(KRAS):c.-11-7T>A
|
|
|
|
NM_004985.5(KRAS):c.-11-8A>C
|
|
|
|
NM_004985.5(KRAS):c.-11-8_-11-7insC
|
|
|
|
NM_004985.5(KRAS):c.-11G>A
|
|
|
|
NM_004985.5(KRAS):c.-6C>T
|
|
|
|
NM_004985.5(KRAS):c.107T>A (p.Ile36Lys)
|
|
|
|
NM_004985.5(KRAS):c.108delinsCC (p.Glu37fs)
|
|
|
|
NM_004985.5(KRAS):c.109G>T (p.Glu37Ter)
|
|
|
|
NM_004985.5(KRAS):c.109_110insC (p.Glu37fs)
|
|
|
|
NM_004985.5(KRAS):c.10T>A (p.Tyr4Asn)
|
|
|
|
NM_004985.5(KRAS):c.111+11T>C
|
|
|
|
NM_004985.5(KRAS):c.111+14del
|
|
|
|
NM_004985.5(KRAS):c.111+16A>G
|
|
|
|
NM_004985.5(KRAS):c.111+1G>C
|
|
|
|
NM_004985.5(KRAS):c.111+24A>G
|
|
|
|
NM_004985.5(KRAS):c.111+25T>C
|
|
|
|
NM_004985.5(KRAS):c.111+28C>T
|
|
|
|
NM_004985.5(KRAS):c.111+30G>T
|
|
|
|
NM_004985.5(KRAS):c.111+50T>A
|
|
|
|
NM_004985.5(KRAS):c.111+53A>G
|
|
|
|
NM_004985.5(KRAS):c.111+6T>C
|
|
|
|
NM_004985.5(KRAS):c.111+8T>C
|
|
|
|
NM_004985.5(KRAS):c.11A>T (p.Tyr4Phe)
|
|
|
|
NM_004985.5(KRAS):c.12T>A (p.Tyr4Ter)
|
|
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
|
NM_004985.5(KRAS):c.13A>T (p.Lys5Ter)
|
|
|
|
NM_004985.5(KRAS):c.16C>T (p.Leu6Phe)
|
|
|
|
NM_004985.5(KRAS):c.1del (p.Met1*)
|
|
|
|
NM_004985.5(KRAS):c.21_22insT (p.Val8fs)
|
|
|
|
NM_004985.5(KRAS):c.24dup (p.Val9fs)
|
|
|
|
NM_004985.5(KRAS):c.27T>A (p.Val9=)
|
|
|
|
NM_004985.5(KRAS):c.27T>G (p.Val9=)
|
|
|
|
NM_004985.5(KRAS):c.27_28insCTC (p.Val9_Gly10insLeu)
|
|
|
|
NM_004985.5(KRAS):c.291-50A>G
|
rs1951385786
|
|
|
NM_004985.5(KRAS):c.29_30insT (p.Ala11fs)
|
|
|
|
NM_004985.5(KRAS):c.29_31del (p.Gly10del)
|
|
|
|
NM_004985.5(KRAS):c.30A>G (p.Gly10=)
|
rs2135806293
|
|
|
NM_004985.5(KRAS):c.31G>T (p.Ala11Ser)
|
|
|
|
NM_004985.5(KRAS):c.33T>A (p.Ala11=)
|
|
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
|
NM_004985.5(KRAS):c.39C>T (p.Gly13=)
|
rs397517040
|
|
|
NM_004985.5(KRAS):c.42A>T (p.Val14=)
|
|
|
|
NM_004985.5(KRAS):c.43G>T (p.Gly15Cys)
|
|
|
|
NM_004985.5(KRAS):c.4del (p.Thr2fs)
|
|
|
|
NM_004985.5(KRAS):c.50G>T (p.Ser17Ile)
|
|
|
|
NM_004985.5(KRAS):c.5C>G (p.Thr2Ser)
|
|
|
|
NM_004985.5(KRAS):c.62T>A (p.Ile21Lys)
|
|
|
|
NM_004985.5(KRAS):c.65A>C (p.Gln22Pro)
|
|
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
|
NM_004985.5(KRAS):c.6T>G (p.Thr2=)
|
|
|
|
NM_004985.5(KRAS):c.74A>T (p.Gln25Leu)
|
|
|
|
NM_004985.5(KRAS):c.75G>A (p.Gln25=)
|
|
|
|
NM_004985.5(KRAS):c.77A>C (p.Asn26Thr)
|
|
|
|
NM_004985.5(KRAS):c.80A>G (p.His27Arg)
|
|
|
|
NM_004985.5(KRAS):c.80A>T (p.His27Leu)
|
|
|
|
NM_004985.5(KRAS):c.84T>A (p.Phe28Leu)
|
|
|
|
NM_004985.5(KRAS):c.84del (p.Phe28fs)
|
|
|
|
NM_004985.5(KRAS):c.90C>A (p.Asp30Glu)
|
|
|
|
NM_004985.5(KRAS):c.91G>T (p.Glu31Ter)
|
|
|
|
NM_004985.5(KRAS):c.95A>C (p.Tyr32Ser)
|
|
|
|
NM_004985.5(KRAS):c.99T>C (p.Asp33=)
|
|
|
|
NM_004985.5(KRAS):c.9dup (p.Tyr4fs)
|
|
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
|
NM_004991.4(MECOM):c.262C>T (p.Pro88Ser)
|
rs1560202272
|
|
|
NM_004996.4(ABCC1):c.1913-609G>A
|
rs11866794
|
|
|
NM_004996.4(ABCC1):c.1988+310C>T
|
rs4148351
|
|
|
NM_004996.4(ABCC1):c.2461-1175C>G
|
rs3851711
|
|
|
NM_005015.5(OXA1L):c.1018A>G (p.Thr340Ala)
|
rs193921091
|
|
|
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del)
|
rs1302128286
|
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|
|
NM_005188.4(CBL):c.-125_-116delinsT
|
rs886047763
|
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
|
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)
|
rs587778154
|
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|
|
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
|
|
|
|
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
|
|
|
|
NM_005215.4(DCC):c.371C>T (p.Ser124Phe)
|
rs2037008530
|
|
|
NM_005215.4(DCC):c.3872G>A (p.Arg1291Gln)
|
rs768577706
|
|
|
NM_005215.4(DCC):c.4028G>A (p.Arg1343His)
|
rs149118168
|
|
|
NM_005225.3(E2F1):c.497G>A (p.Arg166His)
|
rs864622017
|
|
|
NM_005228.5(EGFR):c.*2368G>T
|
|
|
|
NM_005228.5(EGFR):c.1661A>G (p.Glu554Gly)
|
rs779741928
|
|
|
NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr)
|
rs952307505
|
|
|
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala)
|
rs397517085
|
|
|
NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly)
|
rs397517085
|
|
|
NM_005228.5(EGFR):c.2469+8G>A
|
rs760763801
|
|
|
NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln)
|
rs1489158055
|
|
|
NM_005228.5(EGFR):c.2504A>T (p.His835Leu)
|
rs397517128
|
|
|
NM_005228.5(EGFR):c.2512C>G (p.Leu838Val)
|
rs864621996
|
|
|
NM_005228.5(EGFR):c.2639G>C (p.Trp880Ser)
|
|
|
|
NM_005228.5(EGFR):c.2701+1G>A
|
|
|
|
NM_005228.5(EGFR):c.2701+77T>G
|
|
|
|
NM_005228.5(EGFR):c.3114+101A>G
|
|
|
|
NM_005228.5(EGFR):c.3272A>C (p.Glu1091Ala)
|
rs1788061731
|
|
|
NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser)
|
rs918187279
|
|
|
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)
|
rs2128933753
|
|
|
NM_005228.5(EGFR):c.88+24313G>C
|
|
|
|
NM_005269.3(GLI1):c.530G>A (p.Cys177Tyr)
|
rs193921005
|
|
|
NM_005343.4(HRAS):c.111+18G>C
|
rs759743352
|
|
|
NM_005343.4(HRAS):c.144_145insC (p.Glu49fs)
|
|
|
|
NM_005343.4(HRAS):c.146del (p.Glu49fs)
|
|
|
|
NM_005343.4(HRAS):c.149delinsGA (p.Thr50fs)
|
|
|
|
NM_005343.4(HRAS):c.170A>C (p.Asp57Ala)
|
|
|
|
NM_005343.4(HRAS):c.199A>T (p.Met67Leu)
|
|
|
|
NM_005343.4(HRAS):c.243G>T (p.Val81=)
|
|
|
|
NM_005343.4(HRAS):c.450+31A>G
|
rs1300614609
|
|
|
NM_005343.4(HRAS):c.450+38dup
|
rs1851232069
|
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
|
NM_005353.3(ITGAD):c.2836A>C (p.Lys946Gln)
|
rs193921125
|
|
|
NM_005359.6(SMAD4):c.-69G>A
|
rs772186355
|
|
|
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)
|
rs1568211184
|
|
|
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)
|
rs1057524809
|
|
|
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)
|
rs1910526660
|
|
|
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)
|
rs1064793950
|
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
|
NM_005359.6(SMAD4):c.530A>C (p.His177Pro)
|
rs1568205026
|
|
|
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)
|
rs1568206043
|
|
|
NM_005359.6(SMAD4):c.908C>A (p.Pro303His)
|
rs2144433151
|
|
|
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
|
|
|
|
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
|
|
|
|
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
|
|
|
|
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
|
|
|
|
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
|
|
|
|
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
|
|
|
|
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
|
|
|
|
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
|
|
|
|
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
|
|
|
|
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
|
|
|
|
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
|
|
|
|
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
|
|
|
|
NM_005373.3(MPL):c.1468+7C>T
|
|
|
|
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys)
|
rs121913613
|
|
|
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
|
|
|
|
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys)
|
rs1647078220
|
|
|
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
|
|
|
|
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
|
|
|
|
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
|
|
|
|
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
|
|
|
|
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
|
|
|
|
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
|
|
|
|
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
|
|
|
|
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
|
|
|
|
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
|
|
|
|
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
|
|
|
|
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
|
|
|
|
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
|
|
|
|
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
|
|
|
|
NM_005373.3(MPL):c.1744C>G (p.Leu582Val)
|
rs2153920065
|
|
|
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
|
|
|
|
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
|
|
|
|
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
|
|
|
|
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
|
|
|
|
NM_005373.3(MPL):c.224G>A (p.Arg75His)
|
|
|
|
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
|
|
|
|
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
|
|
|
|
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
|
|
|
|
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
|
|
|
|
NM_005373.3(MPL):c.417C>T (p.Ile139=)
|
|
|
|
NM_005373.3(MPL):c.445G>A (p.Glu149Lys)
|
rs267598615
|
|
|
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
|
|
|
|
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
|
|
|
|
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
|
|
|
|
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
|
|
|
|
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
|
|
|
|
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
|
|
|
|
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
|
|
|
|
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
|
|
|
|
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
|
|
|
|
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
|
|
|
|
NM_005373.3(MPL):c.844G>A (p.Gly282Arg)
|
rs878854770
|
|
|
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
|
|
|
|
NM_005373.3(MPL):c.923A>T (p.His308Leu)
|
|
|
|
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
|
|
|
|
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
|
|
|
|
NM_005373.3(MPL):c.981-8G>A
|
|
|
|
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
|
rs1647056598
|
|
|
NM_005379.4(MYO1A):c.2887G>A (p.Val963Met)
|
rs193921066
|
|
|
NM_005398.7(PPP1R3C):c.458A>G (p.Gln153Arg)
|
rs193920921
|
|
|
NM_005414.5(SKIL):c.942A>T (p.Arg314Ser)
|
rs193920870
|
|
|
NM_005432.4(XRCC3):c.1012C>T (p.Arg338Ter)
|
|
|
|
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
|
|
|
|
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
|
|
|
|
NM_005491.5(MAMLD1):c.*33G>T
|
rs193920839
|
|
|
NM_005591.4(MRE11):c.668A>G (p.His223Arg)
|
|
|
|
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
|
|
|
|
NM_005612.5(REST):c.1583A>G (p.His528Arg)
|
|
|
|
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
|
|
|
|
NM_005612.5(REST):c.1881G>T (p.Gln627His)
|
rs1720922537
|
|
|
NM_005612.5(REST):c.1882G>A (p.Val628Met)
|
|
|
|
NM_005618.4(DLL1):c.1711C>A (p.Leu571Met)
|
rs193920766
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_005656.4(TMPRSS2):c.1222_1223del (p.Gln408fs)
|
rs193920966
|
|
|
NM_005683.4(GPR55):c.941C>T (p.Thr314Ile)
|
rs193920808
|
|
|
NM_005723.4(TSPAN5):c.268C>A (p.Leu90Ile)
|
rs193921080
|
|
|
NM_005732.4(RAD50):c.1090A>G (p.Ile364Val)
|
rs1750641668
|
|
|
NM_005732.4(RAD50):c.136A>G (p.Ile46Val)
|
|
|
|
NM_005732.4(RAD50):c.1928A>T (p.Asp643Val)
|
rs1750764737
|
|
|
NM_005732.4(RAD50):c.2221G>C (p.Asp741His)
|
|
|
|
NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)
|
|
|
|
NM_005732.4(RAD50):c.398G>T (p.Cys133Phe)
|
rs786201788
|
|
|
NM_005732.4(RAD50):c.587G>A (p.Arg196His)
|
rs764784659
|
|
|
NM_005732.4(RAD50):c.656A>G (p.Lys219Arg)
|
|
|
|
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys)
|
rs753136372
|
|
|
NM_005762.3(TRIM28):c.1101+8_1101+9dup
|
|
|
|
NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)
|
|
|
|
NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)
|
|
|
|
NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)
|
|
|
|
NM_005762.3(TRIM28):c.2193+3G>T
|
rs193921106
|
|
|
NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)
|
|
|
|
NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)
|
|
|
|
NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)
|
|
|
|
NM_005802.5(TOPORS):c.2808A>C (p.Gln936His)
|
rs193920910
|
|
|
NM_005845.5(ABCC4):c.1645G>T (p.Val549Leu)
|
rs193921134
|
|
|
NM_005845.5(ABCC4):c.2672G>T (p.Arg891Leu)
|
rs781305510
|
|
|
NM_005884.5(PAK4):c.1504G>C (p.Gly502Arg)
|
rs193920877
|
|
|
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe)
|
rs757389021
|
|
|
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro)
|
rs185564694
|
|
|
NM_005957.5(MTHFR):c.1739del (p.Phe580fs)
|
rs193921032
|
|
|
NM_005961.3(MUC6):c.4382C>T (p.Thr1461Ile)
|
rs148581741
|
|
|
NM_005973.5(PRCC):c.722C>T (p.Ser241Leu)
|
|
|
|
NM_005981.5(TSPAN31):c.*2156T>A
|
rs1446831422
|
|
|
NM_005996.4(TBX3):c.1432_1433del (p.Leu478fs)
|
|
|
|
NM_006015.6(ARID1A):c.3105dup (p.Met1036fs)
|
|
|
|
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
|
|
|
|
NM_006086.4(TUBB3):c.1288G>C (p.Ala430Pro)
|
rs864622009
|
|
|
NM_006121.4(KRT1):c.757G>T (p.Asp253Tyr)
|
rs193921116
|
|
|
NM_006157.5(NELL1):c.1666G>T (p.Gly556Ter)
|
rs193920875
|
|
|
NM_006182.4(DDR2):c.1099+20T>C
|
rs1663742530
|
|
|
NM_006182.4(DDR2):c.1294-109C>T
|
|
|
|
NM_006182.4(DDR2):c.1728+293A>G
|
|
|
|
NM_006182.4(DDR2):c.2434-46TC[6]
|
rs555765842
|
|
|
NM_006182.4(DDR2):c.2434-46TC[7]
|
rs555765842
|
|
|
NM_006182.4(DDR2):c.2434-46TC[9]
|
rs555765842
|
|
|
NM_006183.5(NTS):c.185G>A (p.Cys62Tyr)
|
rs869025243
|
|
|
NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter)
|
rs1085307084
|
|
|
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
|
rs2108413471
|
|
|
NM_006218.4(PIK3CA):c.562+40del
|
rs1724368987
|
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
|
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del)
|
rs1555225139
|
|
|
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu)
|
rs1565946576
|
|
|
NM_006231.4(POLE):c.4476C>G (p.His1492Gln)
|
rs5744943
|
|
|
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)
|
rs766511597
|
|
|
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn)
|
rs1565937957
|
|
|
NM_006231.4(POLE):c.4945A>G (p.Met1649Val)
|
rs1565937350
|
|
|
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg)
|
rs1565935906
|
|
|
NM_006231.4(POLE):c.5573G>A (p.Arg1858His)
|
rs1445288473
|
|
|
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr)
|
rs1565931961
|
|
|
NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg)
|
rs1593709200
|
|
|
NM_006231.4(POLE):c.605C>T (p.Thr202Ile)
|
rs1432402314
|
|
|
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys)
|
rs1060500872
|
|
|
NM_006231.4(POLE):c.6747+5G>A
|
rs1555300791
|
|
|
NM_006269.2(RP1):c.5001del (p.Arg1668fs)
|
rs869320622
|
|
|
NM_006311.4(NCOR1):c.4707del (p.Pro1570fs)
|
rs869025295
|
|
|
NM_006361.6(HOXB13):c.*103_*104del
|
rs1597932178
|
|
|
NM_006361.6(HOXB13):c.*105_*108del
|
rs1597932175
|
|
|
NM_006361.6(HOXB13):c.*108A>G
|
rs1597932173
|
|
|
NM_006361.6(HOXB13):c.*10T>C
|
rs1597932346
|
|
|
NM_006361.6(HOXB13):c.*110A>G
|
rs1597932167
|
|
|
NM_006361.6(HOXB13):c.*110A>T
|
rs1597932167
|
|
|
NM_006361.6(HOXB13):c.*115dup
|
rs1597932149
|
|
|
NM_006361.6(HOXB13):c.*118dup
|
rs1597932140
|
|
|
NM_006361.6(HOXB13):c.*119T>A
|
rs1597932135
|
|
|
NM_006361.6(HOXB13):c.*120_*121insG
|
rs1597932127
|
|
|
NM_006361.6(HOXB13):c.*121_*122insG
|
rs1597932120
|
|
|
NM_006361.6(HOXB13):c.*126dup
|
rs1597932115
|
|
|
NM_006361.6(HOXB13):c.*129dup
|
rs1597932111
|
|
|
NM_006361.6(HOXB13):c.*130C>A
|
rs1597932106
|
|
|
NM_006361.6(HOXB13):c.*131T>A
|
rs1597932102
|
|
|
NM_006361.6(HOXB13):c.*131T>C
|
rs1597932102
|
|
|
NM_006361.6(HOXB13):c.*131del
|
rs1597932103
|
|
|
NM_006361.6(HOXB13):c.*132G>A
|
rs1597932101
|
|
|
NM_006361.6(HOXB13):c.*132G>C
|
rs1597932101
|
|
|
NM_006361.6(HOXB13):c.*135T>G
|
rs1597932098
|
|
|
NM_006361.6(HOXB13):c.*136G>C
|
rs1597932093
|
|
|
NM_006361.6(HOXB13):c.*137C>A
|
rs1597932088
|
|
|
NM_006361.6(HOXB13):c.*137C>T
|
rs1597932088
|
|
|
NM_006361.6(HOXB13):c.*138T>G
|
rs925368689
|
|
|
NM_006361.6(HOXB13):c.*138del
|
rs1597932081
|
|
|
NM_006361.6(HOXB13):c.*140G>C
|
rs1597932075
|
|
|
NM_006361.6(HOXB13):c.*140G>T
|
rs1597932075
|
|
|
NM_006361.6(HOXB13):c.*142C>A
|
rs1597932068
|
|
|
NM_006361.6(HOXB13):c.*143del
|
rs1597932064
|
|
|
NM_006361.6(HOXB13):c.*146T>C
|
rs1597932057
|
|
|
NM_006361.6(HOXB13):c.*146T>G
|
rs1597932057
|
|
|
NM_006361.6(HOXB13):c.*146del
|
rs1597932061
|
|
|
NM_006361.6(HOXB13):c.*148C>A
|
rs900423192
|
|
|
NM_006361.6(HOXB13):c.*149_*150insG
|
rs1597932046
|
|
|
NM_006361.6(HOXB13):c.*149del
|
rs1597932049
|
|
|
NM_006361.6(HOXB13):c.*151_*152insC
|
rs1597932044
|
|
|
NM_006361.6(HOXB13):c.*152G>C
|
rs1597932040
|
|
|
NM_006361.6(HOXB13):c.*153G>A
|
rs1597932026
|
|
|
NM_006361.6(HOXB13):c.*153del
|
rs1597932037
|
|
|
NM_006361.6(HOXB13):c.*155dup
|
rs1597932022
|
|
|
NM_006361.6(HOXB13):c.*15T>C
|
rs776879752
|
|
|
NM_006361.6(HOXB13):c.*160dup
|
rs1597932009
|
|
|
NM_006361.6(HOXB13):c.*19dup
|
rs1597932317
|
|
|
NM_006361.6(HOXB13):c.*1G>A
|
rs1285912914
|
|
|
NM_006361.6(HOXB13):c.*1G>T
|
rs1285912914
|
|
|
NM_006361.6(HOXB13):c.*22G>T
|
rs1597932306
|
|
|
NM_006361.6(HOXB13):c.*22dup
|
rs1597932309
|
|
|
NM_006361.6(HOXB13):c.*25dup
|
rs1597932299
|
|
|
NM_006361.6(HOXB13):c.*27G>A
|
rs1597932295
|
|
|
NM_006361.6(HOXB13):c.*27G>C
|
rs1597932295
|
|
|
NM_006361.6(HOXB13):c.*28dup
|
rs1597932286
|
|
|
NM_006361.6(HOXB13):c.*29G>C
|
rs1333372673
|
|
|
NM_006361.6(HOXB13):c.*33G>A
|
rs1597932273
|
|
|
NM_006361.6(HOXB13):c.*35_*36insAAGG
|
rs1597932271
|
|
|
NM_006361.6(HOXB13):c.*45T>C
|
rs1597932254
|
|
|
NM_006361.6(HOXB13):c.*45T>G
|
rs1597932254
|
|
|
NM_006361.6(HOXB13):c.*78G>C
|
rs1597932221
|
|
|
NM_006361.6(HOXB13):c.*80G>C
|
rs1597932216
|
|
|
NM_006361.6(HOXB13):c.*86G>A
|
rs1597932213
|
|
|
NM_006361.6(HOXB13):c.*88del
|
rs1597932209
|
|
|
NM_006361.6(HOXB13):c.*90C>G
|
rs1597932206
|
|
|
NM_006361.6(HOXB13):c.*90C>T
|
rs1597932206
|
|
|
NM_006361.6(HOXB13):c.*93del
|
rs1597932197
|
|
|
NM_006361.6(HOXB13):c.*95G>T
|
rs1597932192
|
|
|
NM_006361.6(HOXB13):c.-11C>G
|
rs1362939023
|
|
|
NM_006361.6(HOXB13):c.-14C>A
|
rs1356729486
|
|
|
NM_006361.6(HOXB13):c.-14del
|
rs1597935500
|
|
|
NM_006361.6(HOXB13):c.-16_-15insA
|
rs1597935505
|
|
|
NM_006361.6(HOXB13):c.-19T>G
|
rs1597935507
|
|
|
NM_006361.6(HOXB13):c.-21_-20insT
|
rs1597935513
|
|
|
NM_006361.6(HOXB13):c.-21del
|
rs1597935516
|
|
|
NM_006361.6(HOXB13):c.-22T>A
|
rs1597935518
|
|
|
NM_006361.6(HOXB13):c.-23C>G
|
rs1597935521
|
|
|
NM_006361.6(HOXB13):c.-23del
|
rs1597935524
|
|
|
NM_006361.6(HOXB13):c.-24C>G
|
rs1597935528
|
|
|
NM_006361.6(HOXB13):c.-26C>G
|
rs1597935535
|
|
|
NM_006361.6(HOXB13):c.-28del
|
rs1597935537
|
|
|
NM_006361.6(HOXB13):c.-2C>G
|
rs1597935461
|
|
|
NM_006361.6(HOXB13):c.-2C>T
|
rs1597935461
|
|
|
NM_006361.6(HOXB13):c.-30C>G
|
rs1298255334
|
|
|
NM_006361.6(HOXB13):c.-34C>A
|
rs1597935558
|
|
|
NM_006361.6(HOXB13):c.-34del
|
rs1597935562
|
|
|
NM_006361.6(HOXB13):c.-36C>A
|
rs1165325120
|
|
|
NM_006361.6(HOXB13):c.-38T>C
|
rs1597935570
|
|
|
NM_006361.6(HOXB13):c.-38del
|
rs1597935576
|
|
|
NM_006361.6(HOXB13):c.-41G>C
|
rs61748976
|
|
|
NM_006361.6(HOXB13):c.-41dup
|
rs1597935588
|
|
|
NM_006361.6(HOXB13):c.-43T>A
|
rs1597935596
|
|
|
NM_006361.6(HOXB13):c.-44C>A
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44C>G
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44C>T
|
rs1597935598
|
|
|
NM_006361.6(HOXB13):c.-44del
|
rs1597935602
|
|
|
NM_006361.6(HOXB13):c.-48C>A
|
rs1440227956
|
|
|
NM_006361.6(HOXB13):c.-48C>G
|
rs1440227956
|
|
|
NM_006361.6(HOXB13):c.-4del
|
rs1597935464
|
|
|
NM_006361.6(HOXB13):c.-50T>C
|
rs1597935621
|
|
|
NM_006361.6(HOXB13):c.-50dup
|
rs1597935622
|
|
|
NM_006361.6(HOXB13):c.-51G>A
|
rs755645189
|
|
|
NM_006361.6(HOXB13):c.-51del
|
rs1597935628
|
|
|
NM_006361.6(HOXB13):c.-54T>A
|
rs1597935640
|
|
|
NM_006361.6(HOXB13):c.-54dup
|
rs1597935641
|
|
|
NM_006361.6(HOXB13):c.-55C>G
|
rs1597935647
|
|
|
NM_006361.6(HOXB13):c.-55_-54insA
|
rs1597935644
|
|
|
NM_006361.6(HOXB13):c.-56dup
|
rs1597935650
|
|
|
NM_006361.6(HOXB13):c.-57del
|
rs1597935652
|
|
|
NM_006361.6(HOXB13):c.-58G>T
|
rs1597935656
|
|
|
NM_006361.6(HOXB13):c.-5G>A
|
rs1567701739
|
|
|
NM_006361.6(HOXB13):c.-60del
|
rs1597935666
|
|
|
NM_006361.6(HOXB13):c.-61A>T
|
rs1597935668
|
|
|
NM_006361.6(HOXB13):c.-64G>A
|
rs1597935678
|
|
|
NM_006361.6(HOXB13):c.-65G>C
|
rs1597935680
|
|
|
NM_006361.6(HOXB13):c.-66G>A
|
rs1597935686
|
|
|
NM_006361.6(HOXB13):c.-67G>C
|
rs1597935689
|
|
|
NM_006361.6(HOXB13):c.-68dup
|
rs1597935697
|
|
|
NM_006361.6(HOXB13):c.-69G>A
|
rs1597935698
|
|
|
NM_006361.6(HOXB13):c.-69G>T
|
rs1597935698
|
|
|
NM_006361.6(HOXB13):c.-69del
|
rs1597935702
|
|
|
NM_006361.6(HOXB13):c.-6G>C
|
rs375857762
|
|
|
NM_006361.6(HOXB13):c.-6_-5insT
|
rs1597935469
|
|
|
NM_006361.6(HOXB13):c.-71G>T
|
rs1597935705
|
|
|
NM_006361.6(HOXB13):c.-72T>G
|
rs1597935707
|
|
|
NM_006361.6(HOXB13):c.-72del
|
rs1597935712
|
|
|
NM_006361.6(HOXB13):c.-76G>C
|
rs200066609
|
|
|
NM_006361.6(HOXB13):c.-76_-75insA
|
rs1597935718
|
|
|
NM_006361.6(HOXB13):c.-7C>A
|
rs762994956
|
|
|
NM_006361.6(HOXB13):c.-81C>A
|
rs535584715
|
|
|
NM_006361.6(HOXB13):c.-83T>A
|
rs1597935727
|
|
|
NM_006361.6(HOXB13):c.-84A>T
|
rs1597935730
|
|
|
NM_006361.6(HOXB13):c.-8_-7insG
|
rs1597935482
|
|
|
NM_006361.6(HOXB13):c.-8dup
|
rs1597935484
|
|
|
NM_006361.6(HOXB13):c.-90dup
|
rs1597935740
|
|
|
NM_006361.6(HOXB13):c.-96A>C
|
rs1597935749
|
|
|
NM_006361.6(HOXB13):c.-99T>C
|
rs924383562
|
|
|
NM_006361.6(HOXB13):c.-9del
|
rs1597935488
|
|
|
NM_006361.6(HOXB13):c.100A>T (p.Thr34Ser)
|
rs1418039435
|
|
|
NM_006361.6(HOXB13):c.101C>A (p.Thr34Asn)
|
rs1597935112
|
|
|
NM_006361.6(HOXB13):c.101C>T (p.Thr34Ile)
|
rs1597935112
|
|
|
NM_006361.6(HOXB13):c.102C>A (p.Thr34=)
|
rs1597935105
|
|
|
NM_006361.6(HOXB13):c.102del (p.Ser35fs)
|
rs1597935108
|
|
|
NM_006361.6(HOXB13):c.105C>A (p.Ser35Arg)
|
rs1175466694
|
|
|
NM_006361.6(HOXB13):c.106del (p.His36fs)
|
rs1597935100
|
|
|
NM_006361.6(HOXB13):c.107A>C (p.His36Pro)
|
rs1597935095
|
|
|
NM_006361.6(HOXB13):c.109C>A (p.Pro37Thr)
|
rs1597935093
|
|
|
NM_006361.6(HOXB13):c.109_110insA (p.Pro37fs)
|
rs1597935091
|
|
|
NM_006361.6(HOXB13):c.10_11insC (p.Gly4fs)
|
rs1597935406
|
|
|
NM_006361.6(HOXB13):c.110dup (p.Ala38fs)
|
rs1597935087
|
|
|
NM_006361.6(HOXB13):c.111A>T (p.Pro37=)
|
rs1597935083
|
|
|
NM_006361.6(HOXB13):c.113C>T (p.Ala38Val)
|
rs587780160
|
|
|
NM_006361.6(HOXB13):c.116C>G (p.Ala39Gly)
|
rs773491778
|
|
|
NM_006361.6(HOXB13):c.116C>T (p.Ala39Val)
|
rs773491778
|
|
|
NM_006361.6(HOXB13):c.117G>C (p.Ala39=)
|
rs1597935062
|
|
|
NM_006361.6(HOXB13):c.117dup (p.Pro40fs)
|
rs1597935065
|
|
|
NM_006361.6(HOXB13):c.119C>G (p.Pro40Arg)
|
rs1597935060
|
|
|
NM_006361.6(HOXB13):c.119C>T (p.Pro40Leu)
|
rs1597935060
|
|
|
NM_006361.6(HOXB13):c.11dup (p.Asn5fs)
|
rs1597935405
|
|
|
NM_006361.6(HOXB13):c.122C>A (p.Thr41Lys)
|
rs199799743
|
|
|
NM_006361.6(HOXB13):c.124C>A (p.Leu42Met)
|
rs1597935049
|
|
|
NM_006361.6(HOXB13):c.124C>G (p.Leu42Val)
|
rs1597935049
|
|
|
NM_006361.6(HOXB13):c.124delinsGA (p.Leu42fs)
|
rs1597935052
|
|
|
NM_006361.6(HOXB13):c.125del (p.Leu42fs)
|
rs1597935048
|
|
|
NM_006361.6(HOXB13):c.131C>G (p.Pro44Arg)
|
rs866159706
|
|
|
NM_006361.6(HOXB13):c.131dup (p.Ala45fs)
|
rs1597935046
|
|
|
NM_006361.6(HOXB13):c.132T>C (p.Pro44=)
|
rs1597935042
|
|
|
NM_006361.6(HOXB13):c.133G>C (p.Ala45Pro)
|
rs1185233318
|
|
|
NM_006361.6(HOXB13):c.134C>G (p.Ala45Gly)
|
rs1597935038
|
|
|
NM_006361.6(HOXB13):c.136G>T (p.Val46Phe)
|
rs1597935034
|
|
|
NM_006361.6(HOXB13):c.138C>T (p.Val46=)
|
rs1597935033
|
|
|
NM_006361.6(HOXB13):c.13A>G (p.Asn5Asp)
|
rs1404578364
|
|
|
NM_006361.6(HOXB13):c.141C>A (p.Asn47Lys)
|
rs774872614
|
|
|
NM_006361.6(HOXB13):c.141delinsAA (p.Asn47fs)
|
rs1597935028
|
|
|
NM_006361.6(HOXB13):c.145G>T (p.Ala49Ser)
|
rs11551892
|
|
|
NM_006361.6(HOXB13):c.146C>A (p.Ala49Asp)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.146C>G (p.Ala49Gly)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.146C>T (p.Ala49Val)
|
rs1597935024
|
|
|
NM_006361.6(HOXB13):c.148C>G (p.Pro50Ala)
|
rs1597935020
|
|
|
NM_006361.6(HOXB13):c.14A>T (p.Asn5Ile)
|
rs1597935385
|
|
|
NM_006361.6(HOXB13):c.14_15insG (p.Asn5fs)
|
rs1597935379
|
|
|
NM_006361.6(HOXB13):c.150dup (p.Asp52fs)
|
rs1597935013
|
|
|
NM_006361.6(HOXB13):c.151T>C (p.Leu51=)
|
rs1597935011
|
|
|
NM_006361.6(HOXB13):c.152T>G (p.Leu51Trp)
|
rs1597935007
|
|
|
NM_006361.6(HOXB13):c.152del (p.Leu51fs)
|
rs1597935010
|
|
|
NM_006361.6(HOXB13):c.154G>T (p.Asp52Tyr)
|
rs1597935002
|
|
|
NM_006361.6(HOXB13):c.155A>G (p.Asp52Gly)
|
rs1597934995
|
|
|
NM_006361.6(HOXB13):c.155A>T (p.Asp52Val)
|
rs1597934995
|
|
|
NM_006361.6(HOXB13):c.157C>T (p.Leu53=)
|
rs1597934989
|
|
|
NM_006361.6(HOXB13):c.157del (p.Leu53fs)
|
rs1597934991
|
|
|
NM_006361.6(HOXB13):c.158dup (p.Pro54fs)
|
rs1597934987
|
|
|
NM_006361.6(HOXB13):c.159G>C (p.Leu53=)
|
rs1265294177
|
|
|
NM_006361.6(HOXB13):c.159del (p.Pro54fs)
|
rs1597934983
|
|
|
NM_006361.6(HOXB13):c.15T>A (p.Asn5Lys)
|
rs1597935376
|
|
|
NM_006361.6(HOXB13):c.15T>G (p.Asn5Lys)
|
rs1597935376
|
|
|
NM_006361.6(HOXB13):c.160C>A (p.Pro54Thr)
|
rs769074510
|
|
|
NM_006361.6(HOXB13):c.161del (p.Pro54fs)
|
rs1597934972
|
|
|
NM_006361.6(HOXB13):c.162A>C (p.Pro54=)
|
rs1597934963
|
|
|
NM_006361.6(HOXB13):c.162A>G (p.Pro54=)
|
rs1597934963
|
|
|
NM_006361.6(HOXB13):c.162del (p.Gly55fs)
|
rs1597934966
|
|
|
NM_006361.6(HOXB13):c.163G>C (p.Gly55Arg)
|
rs1484636342
|
|
|
NM_006361.6(HOXB13):c.165C>G (p.Gly55=)
|
rs1597934949
|
|
|
NM_006361.6(HOXB13):c.165C>T (p.Gly55=)
|
rs1597934949
|
|
|
NM_006361.6(HOXB13):c.166T>C (p.Ser56Pro)
|
rs1597934943
|
|
|
NM_006361.6(HOXB13):c.166del (p.Ser56fs)
|
rs1597934944
|
|
|
NM_006361.6(HOXB13):c.167C>G (p.Ser56Trp)
|
rs1597934937
|
|
|
NM_006361.6(HOXB13):c.167dup (p.Ala57fs)
|
rs1597934938
|
|
|
NM_006361.6(HOXB13):c.168G>T (p.Ser56=)
|
rs1325861190
|
|
|
NM_006361.6(HOXB13):c.169G>C (p.Ala57Pro)
|
rs745306184
|
|
|
NM_006361.6(HOXB13):c.169del (p.Ala57fs)
|
rs1597934932
|
|
|
NM_006361.6(HOXB13):c.170C>G (p.Ala57Gly)
|
rs1597934926
|
|
|
NM_006361.6(HOXB13):c.170C>T (p.Ala57Val)
|
rs1597934926
|
|
|
NM_006361.6(HOXB13):c.170_171insT (p.Glu58fs)
|
rs1597934922
|
|
|
NM_006361.6(HOXB13):c.171G>T (p.Ala57=)
|
rs780859632
|
|
|
NM_006361.6(HOXB13):c.172dup (p.Glu58fs)
|
rs1597934916
|
|
|
NM_006361.6(HOXB13):c.173A>G (p.Glu58Gly)
|
rs1597934915
|
|
|
NM_006361.6(HOXB13):c.174G>A (p.Glu58=)
|
rs1597934910
|
|
|
NM_006361.6(HOXB13):c.174dup (p.Pro59fs)
|
rs1597934913
|
|
|
NM_006361.6(HOXB13):c.175C>G (p.Pro59Ala)
|
rs1597934900
|
|
|
NM_006361.6(HOXB13):c.175_176insG (p.Pro59fs)
|
rs1597934896
|
|
|
NM_006361.6(HOXB13):c.175delinsGG (p.Pro59fs)
|
rs1597934906
|
|
|
NM_006361.6(HOXB13):c.176C>G (p.Pro59Arg)
|
rs770620686
|
|
|
NM_006361.6(HOXB13):c.176del (p.Pro59fs)
|
rs1597934894
|
|
|
NM_006361.6(HOXB13):c.177dup (p.Pro60fs)
|
rs1597934885
|
|
|
NM_006361.6(HOXB13):c.178C>T (p.Pro60Ser)
|
rs1597934879
|
|
|
NM_006361.6(HOXB13):c.179del (p.Pro60fs)
|
rs1597934877
|
|
|
NM_006361.6(HOXB13):c.179dup (p.Gln62fs)
|
rs1597934877
|
|
|
NM_006361.6(HOXB13):c.17A>G (p.Tyr6Cys)
|
rs771173385
|
|
|
NM_006361.6(HOXB13):c.180A>C (p.Pro60=)
|
rs1597934873
|
|
|
NM_006361.6(HOXB13):c.184C>A (p.Gln62Lys)
|
rs1597934862
|
|
|
NM_006361.6(HOXB13):c.185A>T (p.Gln62Leu)
|
rs1597934856
|
|
|
NM_006361.6(HOXB13):c.186A>T (p.Gln62His)
|
rs1597934852
|
|
|
NM_006361.6(HOXB13):c.186dup (p.Cys63fs)
|
rs1597934854
|
|
|
NM_006361.6(HOXB13):c.187T>A (p.Cys63Ser)
|
rs758166293
|
|
|
NM_006361.6(HOXB13):c.188G>C (p.Cys63Ser)
|
rs199813155
|
|
|
NM_006361.6(HOXB13):c.188G>T (p.Cys63Phe)
|
rs199813155
|
|
|
NM_006361.6(HOXB13):c.189C>A (p.Cys63Ter)
|
rs1597934839
|
|
|
NM_006361.6(HOXB13):c.18T>G (p.Tyr6Ter)
|
rs1337454597
|
|
|
NM_006361.6(HOXB13):c.191A>C (p.His64Pro)
|
rs1194735492
|
|
|
NM_006361.6(HOXB13):c.194C>A (p.Pro65Gln)
|
rs1597934831
|
|
|
NM_006361.6(HOXB13):c.194dup (p.Cys66fs)
|
rs1597934833
|
|
|
NM_006361.6(HOXB13):c.195A>C (p.Pro65=)
|
rs1597934828
|
|
|
NM_006361.6(HOXB13):c.195_196insC (p.Cys66fs)
|
rs1597934827
|
|
|
NM_006361.6(HOXB13):c.197del (p.Cys66fs)
|
rs1597934825
|
|
|
NM_006361.6(HOXB13):c.19G>C (p.Ala7Pro)
|
rs1597935367
|
|
|
NM_006361.6(HOXB13):c.19G>T (p.Ala7Ser)
|
rs1597935367
|
|
|
NM_006361.6(HOXB13):c.1del (p.Met1fs)
|
rs1597935455
|
|
|
NM_006361.6(HOXB13):c.200del (p.Pro67fs)
|
rs1597934819
|
|
|
NM_006361.6(HOXB13):c.201T>C (p.Pro67=)
|
rs1597934812
|
|
|
NM_006361.6(HOXB13):c.201del (p.Val69fs)
|
rs1597934816
|
|
|
NM_006361.6(HOXB13):c.205dup (p.Val69fs)
|
rs1597934803
|
|
|
NM_006361.6(HOXB13):c.206T>G (p.Val69Gly)
|
rs1597934796
|
|
|
NM_006361.6(HOXB13):c.207G>C (p.Val69=)
|
rs1597934795
|
|
|
NM_006361.6(HOXB13):c.207G>T (p.Val69=)
|
rs1597934795
|
|
|
NM_006361.6(HOXB13):c.20C>G (p.Ala7Gly)
|
rs1597935362
|
|
|
NM_006361.6(HOXB13):c.210C>A (p.Pro70=)
|
rs768670673
|
|
|
NM_006361.6(HOXB13):c.212A>C (p.Gln71Pro)
|
rs1597934778
|
|
|
NM_006361.6(HOXB13):c.212A>G (p.Gln71Arg)
|
rs1597934778
|
|
|
NM_006361.6(HOXB13):c.215G>A (p.Gly72Glu)
|
rs774579054
|
|
|
NM_006361.6(HOXB13):c.216G>T (p.Gly72=)
|
rs769145488
|
|
|
NM_006361.6(HOXB13):c.216dup (p.Thr73fs)
|
rs1597934769
|
|
|
NM_006361.6(HOXB13):c.217A>G (p.Thr73Ala)
|
rs1597934763
|
|
|
NM_006361.6(HOXB13):c.217_218insGTTCCCAGGCT (p.Thr73fs)
|
rs1597934760
|
|
|
NM_006361.6(HOXB13):c.218C>A (p.Thr73Lys)
|
rs763353615
|
|
|
NM_006361.6(HOXB13):c.218C>G (p.Thr73Arg)
|
rs763353615
|
|
|
NM_006361.6(HOXB13):c.219G>T (p.Thr73=)
|
rs776203446
|
|
|
NM_006361.6(HOXB13):c.219_230del (p.Ser74_Pro77del)
|
rs1597934723
|
|
|
NM_006361.6(HOXB13):c.21C>T (p.Ala7=)
|
rs1597935358
|
|
|
NM_006361.6(HOXB13):c.220T>G (p.Ser74Ala)
|
rs1597934748
|
|
|
NM_006361.6(HOXB13):c.220del (p.Ser74fs)
|
rs1597934752
|
|
|
NM_006361.6(HOXB13):c.220dup (p.Ser74fs)
|
rs1597934751
|
|
|
NM_006361.6(HOXB13):c.221C>T (p.Ser74Phe)
|
rs1597934744
|
|
|
NM_006361.6(HOXB13):c.224dup (p.Ala76fs)
|
rs1597934741
|
|
|
NM_006361.6(HOXB13):c.226G>C (p.Ala76Pro)
|
rs1390422355
|
|
|
NM_006361.6(HOXB13):c.227C>G (p.Ala76Gly)
|
rs1597934737
|
|
|
NM_006361.6(HOXB13):c.227C>T (p.Ala76Val)
|
rs1597934737
|
|
|
NM_006361.6(HOXB13):c.228dup (p.Pro77fs)
|
rs1597934733
|
|
|
NM_006361.6(HOXB13):c.229C>T (p.Pro77Ser)
|
rs1597934728
|
|
|
NM_006361.6(HOXB13):c.230_231del (p.Pro77fs)
|
rs1597934719
|
|
|
NM_006361.6(HOXB13):c.231dup (p.Val78fs)
|
rs1597934719
|
|
|
NM_006361.6(HOXB13):c.232G>C (p.Val78Leu)
|
rs746542615
|
|
|
NM_006361.6(HOXB13):c.234G>T (p.Val78=)
|
rs924383022
|
|
|
NM_006361.6(HOXB13):c.234del (p.Pro79fs)
|
rs1597934711
|
|
|
NM_006361.6(HOXB13):c.236del (p.Pro79fs)
|
rs1597934706
|
|
|
NM_006361.6(HOXB13):c.236dup (p.Tyr80fs)
|
rs1597934706
|
|
|
NM_006361.6(HOXB13):c.238T>A (p.Tyr80Asn)
|
rs1597934698
|
|
|
NM_006361.6(HOXB13):c.239A>T (p.Tyr80Phe)
|
rs772962401
|
|
|
NM_006361.6(HOXB13):c.241G>T (p.Gly81Cys)
|
rs1597934690
|
|
|
NM_006361.6(HOXB13):c.242G>T (p.Gly81Val)
|
rs1597934688
|
|
|
NM_006361.6(HOXB13):c.244T>A (p.Tyr82Asn)
|
rs1597934684
|
|
|
NM_006361.6(HOXB13):c.244T>G (p.Tyr82Asp)
|
rs1597934684
|
|
|
NM_006361.6(HOXB13):c.248T>C (p.Phe83Ser)
|
rs1597934674
|
|
|
NM_006361.6(HOXB13):c.249del (p.Phe83fs)
|
rs1597934671
|
|
|
NM_006361.6(HOXB13):c.24del (p.Leu9fs)
|
rs1597935352
|
|
|
NM_006361.6(HOXB13):c.251del (p.Gly84fs)
|
rs1597934667
|
|
|
NM_006361.6(HOXB13):c.255C>G (p.Gly85=)
|
rs1597934651
|
|
|
NM_006361.6(HOXB13):c.255del (p.Tyr87fs)
|
rs1597934654
|
|
|
NM_006361.6(HOXB13):c.258dup (p.Tyr87fs)
|
rs1597934646
|
|
|
NM_006361.6(HOXB13):c.259T>A (p.Tyr87Asn)
|
rs1597934636
|
|
|
NM_006361.6(HOXB13):c.259T>G (p.Tyr87Asp)
|
rs1597934636
|
|
|
NM_006361.6(HOXB13):c.259delinsAA (p.Tyr87fs)
|
rs1597934637
|
|
|
NM_006361.6(HOXB13):c.260A>T (p.Tyr87Phe)
|
rs1597934631
|
|
|
NM_006361.6(HOXB13):c.261C>A (p.Tyr87Ter)
|
rs1197613952
|
|
|
NM_006361.6(HOXB13):c.261del (p.Tyr88fs)
|
rs1597934628
|
|
|
NM_006361.6(HOXB13):c.262T>A (p.Tyr88Asn)
|
rs1597934622
|
|
|
NM_006361.6(HOXB13):c.264C>A (p.Tyr88Ter)
|
rs1597934612
|
|
|
NM_006361.6(HOXB13):c.264del (p.Ser89fs)
|
rs1597934617
|
|
|
NM_006361.6(HOXB13):c.267C>T (p.Ser89=)
|
rs1597934607
|
|
|
NM_006361.6(HOXB13):c.26T>C (p.Leu9Ser)
|
rs1597935342
|
|
|
NM_006361.6(HOXB13):c.26T>G (p.Leu9Trp)
|
rs1597935342
|
|
|
NM_006361.6(HOXB13):c.271C>G (p.Arg91Gly)
|
rs749195398
|
|
|
NM_006361.6(HOXB13):c.271C>T (p.Arg91Ter)
|
rs749195398
|
|
|
NM_006361.6(HOXB13):c.27G>C (p.Leu9Phe)
|
rs1597935337
|
|
|
NM_006361.6(HOXB13):c.280C>G (p.Arg94Gly)
|
rs1597934593
|
|
|
NM_006361.6(HOXB13):c.280del (p.Arg94fs)
|
rs1597934594
|
|
|
NM_006361.6(HOXB13):c.280dup (p.Arg94fs)
|
rs1597934594
|
|
|
NM_006361.6(HOXB13):c.283dup (p.Ser95fs)
|
rs1597934583
|
|
|
NM_006361.6(HOXB13):c.285C>G (p.Ser95Arg)
|
rs750529308
|
|
|
NM_006361.6(HOXB13):c.287C>G (p.Ser96Trp)
|
rs1237713613
|
|
|
NM_006361.6(HOXB13):c.289C>G (p.Leu97Val)
|
rs757433384
|
|
|
NM_006361.6(HOXB13):c.289C>T (p.Leu97=)
|
rs757433384
|
|
|
NM_006361.6(HOXB13):c.289del (p.Ser96_Leu97insTer)
|
rs1597934574
|
|
|
NM_006361.6(HOXB13):c.28G>C (p.Asp10His)
|
rs1597935328
|
|
|
NM_006361.6(HOXB13):c.28G>T (p.Asp10Tyr)
|
rs1597935328
|
|
|
NM_006361.6(HOXB13):c.28dup (p.Asp10fs)
|
rs1597935334
|
|
|
NM_006361.6(HOXB13):c.291G>T (p.Leu97=)
|
rs1597934567
|
|
|
NM_006361.6(HOXB13):c.294dup (p.Pro99fs)
|
rs1597934565
|
|
|
NM_006361.6(HOXB13):c.297C>T (p.Pro99=)
|
rs1597934560
|
|
|
NM_006361.6(HOXB13):c.301G>A (p.Ala101Thr)
|
rs1597934558
|
|
|
NM_006361.6(HOXB13):c.307del (p.Ala103fs)
|
rs1597934544
|
|
|
NM_006361.6(HOXB13):c.30T>G (p.Asp10Glu)
|
rs1597935325
|
|
|
NM_006361.6(HOXB13):c.316del (p.Leu106fs)
|
rs1597934520
|
|
|
NM_006361.6(HOXB13):c.326A>C (p.Tyr109Ser)
|
rs1597934502
|
|
|
NM_006361.6(HOXB13):c.327C>A (p.Tyr109Ter)
|
rs749101324
|
|
|
NM_006361.6(HOXB13):c.331G>T (p.Ala111Ser)
|
rs745889927
|
|
|
NM_006361.6(HOXB13):c.334G>A (p.Glu112Lys)
|
rs1597934467
|
|
|
NM_006361.6(HOXB13):c.336G>A (p.Glu112=)
|
rs1597934464
|
|
|
NM_006361.6(HOXB13):c.337dup (p.Thr113fs)
|
rs1597934462
|
|
|
NM_006361.6(HOXB13):c.338C>A (p.Thr113Asn)
|
rs1597934458
|
|
|
NM_006361.6(HOXB13):c.344_345insA (p.Ala116fs)
|
rs1597934438
|
|
|
NM_006361.6(HOXB13):c.344del (p.Thr115fs)
|
rs1597934448
|
|
|
NM_006361.6(HOXB13):c.347C>G (p.Ala116Gly)
|
rs1597934421
|
|
|
NM_006361.6(HOXB13):c.355G>A (p.Glu119Lys)
|
rs1597934381
|
|
|
NM_006361.6(HOXB13):c.358delinsAA (p.Tyr120fs)
|
rs1597934365
|
|
|
NM_006361.6(HOXB13):c.35C>A (p.Ala12Asp)
|
rs1597935311
|
|
|
NM_006361.6(HOXB13):c.35C>G (p.Ala12Gly)
|
rs1597935311
|
|
|
NM_006361.6(HOXB13):c.35_36insT (p.Lys13fs)
|
rs1597935307
|
|
|
NM_006361.6(HOXB13):c.361C>A (p.Pro121Thr)
|
rs766909225
|
|
|
NM_006361.6(HOXB13):c.363C>A (p.Pro121=)
|
rs1597934347
|
|
|
NM_006361.6(HOXB13):c.365G>A (p.Ser122Asn)
|
rs1010890339
|
|
|
NM_006361.6(HOXB13):c.367del (p.Arg123fs)
|
rs1597934329
|
|
|
NM_006361.6(HOXB13):c.368G>C (p.Arg123Pro)
|
rs201428095
|
|
|
NM_006361.6(HOXB13):c.36C>A (p.Ala12=)
|
rs1597935303
|
|
|
NM_006361.6(HOXB13):c.372C>G (p.Pro124=)
|
rs1597934319
|
|
|
NM_006361.6(HOXB13):c.372dup (p.Thr125fs)
|
rs1597934321
|
|
|
NM_006361.6(HOXB13):c.378G>C (p.Glu126Asp)
|
rs1597934313
|
|
|
NM_006361.6(HOXB13):c.37A>T (p.Lys13Ter)
|
rs1597935301
|
|
|
NM_006361.6(HOXB13):c.381dup (p.Ala128fs)
|
rs1597934310
|
|
|
NM_006361.6(HOXB13):c.382del (p.Ala128fs)
|
rs1597934308
|
|
|
NM_006361.6(HOXB13):c.384C>G (p.Ala128=)
|
rs1445231138
|
|
|
NM_006361.6(HOXB13):c.389A>G (p.Tyr130Cys)
|
rs1597934297
|
|
|
NM_006361.6(HOXB13):c.38A>T (p.Lys13Met)
|
rs1597935299
|
|
|
NM_006361.6(HOXB13):c.391C>G (p.Pro131Ala)
|
rs1597934292
|
|
|
NM_006361.6(HOXB13):c.392dup (p.Tyr133fs)
|
rs1597934290
|
|
|
NM_006361.6(HOXB13):c.39G>C (p.Lys13Asn)
|
rs1555558715
|
|
|
NM_006361.6(HOXB13):c.39G>T (p.Lys13Asn)
|
rs1555558715
|
|
|
NM_006361.6(HOXB13):c.405A>C (p.Gly135=)
|
rs1597934273
|
|
|
NM_006361.6(HOXB13):c.406dup (p.Thr136fs)
|
rs1597934271
|
|
|
NM_006361.6(HOXB13):c.40G>T (p.Asp14Tyr)
|
rs1597935289
|
|
|
NM_006361.6(HOXB13):c.40del (p.Asp14fs)
|
rs1597935290
|
|
|
NM_006361.6(HOXB13):c.416C>A (p.Pro139His)
|
rs1597934253
|
|
|
NM_006361.6(HOXB13):c.416dup (p.Met140fs)
|
rs1597934256
|
|
|
NM_006361.6(HOXB13):c.421dup (p.Ala141fs)
|
rs1597934242
|
|
|
NM_006361.6(HOXB13):c.422C>G (p.Ala141Gly)
|
rs556045007
|
|
|
NM_006361.6(HOXB13):c.424A>C (p.Ser142Arg)
|
rs1597934239
|
|
|
NM_006361.6(HOXB13):c.427T>A (p.Tyr143Asn)
|
rs1597934233
|
|
|
NM_006361.6(HOXB13):c.430del (p.Leu144fs)
|
rs1597934229
|
|
|
NM_006361.6(HOXB13):c.433dup (p.Asp145fs)
|
rs1597934223
|
|
|
NM_006361.6(HOXB13):c.434A>G (p.Asp145Gly)
|
rs1597934220
|
|
|
NM_006361.6(HOXB13):c.436dup (p.Val146fs)
|
rs1597934215
|
|
|
NM_006361.6(HOXB13):c.440C>T (p.Ser147Phe)
|
rs1597934208
|
|
|
NM_006361.6(HOXB13):c.440del (p.Ser147fs)
|
rs1597934211
|
|
|
NM_006361.6(HOXB13):c.442del (p.Val148fs)
|
rs1597934205
|
|
|
NM_006361.6(HOXB13):c.443del (p.Val148fs)
|
rs1597934202
|
|
|
NM_006361.6(HOXB13):c.446T>A (p.Val149Glu)
|
rs1597934193
|
|
|
NM_006361.6(HOXB13):c.450G>C (p.Gln150His)
|
rs1597934182
|
|
|
NM_006361.6(HOXB13):c.450dup (p.Thr151fs)
|
rs1597934184
|
|
|
NM_006361.6(HOXB13):c.452C>T (p.Thr151Ile)
|
rs1555558604
|
|
|
NM_006361.6(HOXB13):c.455del (p.Leu152fs)
|
rs1597934171
|
|
|
NM_006361.6(HOXB13):c.456G>T (p.Leu152=)
|
rs755437330
|
|
|
NM_006361.6(HOXB13):c.459T>G (p.Gly153=)
|
rs1597934161
|
|
|
NM_006361.6(HOXB13):c.45C>G (p.Ile15Met)
|
rs1597935282
|
|
|
NM_006361.6(HOXB13):c.45C>T (p.Ile15=)
|
rs1597935282
|
|
|
NM_006361.6(HOXB13):c.462T>A (p.Ala154=)
|
rs1597934156
|
|
|
NM_006361.6(HOXB13):c.464C>T (p.Pro155Leu)
|
rs1597934146
|
|
|
NM_006361.6(HOXB13):c.464dup (p.Gly156fs)
|
rs1597934154
|
|
|
NM_006361.6(HOXB13):c.465del (p.Gly156fs)
|
rs1597934142
|
|
|
NM_006361.6(HOXB13):c.466G>C (p.Gly156Arg)
|
rs1597934133
|
|
|
NM_006361.6(HOXB13):c.467dup (p.Glu157fs)
|
rs1597934126
|
|
|
NM_006361.6(HOXB13):c.468A>C (p.Gly156=)
|
rs902238751
|
|
|
NM_006361.6(HOXB13):c.471A>C (p.Glu157Asp)
|
rs1597934111
|
|
|
NM_006361.6(HOXB13):c.472C>T (p.Pro158Ser)
|
rs1597934105
|
|
|
NM_006361.6(HOXB13):c.474dup (p.Arg159fs)
|
rs1597934100
|
|
|
NM_006361.6(HOXB13):c.475C>G (p.Arg159Gly)
|
rs1460756423
|
|
|
NM_006361.6(HOXB13):c.476G>T (p.Arg159Leu)
|
rs1241042961
|
|
|
NM_006361.6(HOXB13):c.476del (p.Arg159fs)
|
rs1597934090
|
|
|
NM_006361.6(HOXB13):c.479A>C (p.His160Pro)
|
rs1597934083
|
|
|
NM_006361.6(HOXB13):c.480T>A (p.His160Gln)
|
rs1597934077
|
|
|
NM_006361.6(HOXB13):c.482dup (p.Asp161fs)
|
rs1597934070
|
|
|
NM_006361.6(HOXB13):c.485C>A (p.Ser162Tyr)
|
rs751081605
|
|
|
NM_006361.6(HOXB13):c.487C>A (p.Leu163Met)
|
rs1597934044
|
|
|
NM_006361.6(HOXB13):c.487C>G (p.Leu163Val)
|
rs1597934044
|
|
|
NM_006361.6(HOXB13):c.489G>T (p.Leu163=)
|
rs199561305
|
|
|
NM_006361.6(HOXB13):c.48A>T (p.Glu16Asp)
|
rs1597935280
|
|
|
NM_006361.6(HOXB13):c.490T>G (p.Leu164Val)
|
rs555788633
|
|
|
NM_006361.6(HOXB13):c.493C>G (p.Pro165Ala)
|
rs1597934017
|
|
|
NM_006361.6(HOXB13):c.493C>T (p.Pro165Ser)
|
rs1597934017
|
|
|
NM_006361.6(HOXB13):c.494C>G (p.Pro165Arg)
|
rs1597934013
|
|
|
NM_006361.6(HOXB13):c.495T>G (p.Pro165=)
|
rs1597934010
|
|
|
NM_006361.6(HOXB13):c.496del (p.Val166fs)
|
rs1597934003
|
|
|
NM_006361.6(HOXB13):c.497T>A (p.Val166Glu)
|
rs1597934000
|
|
|
NM_006361.6(HOXB13):c.498G>C (p.Val166=)
|
rs775189167
|
|
|
NM_006361.6(HOXB13):c.499del (p.Asp167fs)
|
rs1597933997
|
|
|
NM_006361.6(HOXB13):c.49delinsAC (p.Gly17fs)
|
rs1597935279
|
|
|
NM_006361.6(HOXB13):c.4del (p.Glu2fs)
|
rs1597935447
|
|
|
NM_006361.6(HOXB13):c.502A>C (p.Ser168Arg)
|
rs1436475959
|
|
|
NM_006361.6(HOXB13):c.504T>G (p.Ser168Arg)
|
rs1597933977
|
|
|
NM_006361.6(HOXB13):c.505T>A (p.Tyr169Asn)
|
rs1597933974
|
|
|
NM_006361.6(HOXB13):c.506A>T (p.Tyr169Phe)
|
rs1597933968
|
|
|
NM_006361.6(HOXB13):c.508C>A (p.Gln170Lys)
|
rs1335165337
|
|
|
NM_006361.6(HOXB13):c.508del (p.Gln170fs)
|
rs1597933959
|
|
|
NM_006361.6(HOXB13):c.509_510insC (p.Gln170fs)
|
rs1597933947
|
|
|
NM_006361.6(HOXB13):c.514dup (p.Trp172fs)
|
rs1597933934
|
|
|
NM_006361.6(HOXB13):c.515G>C (p.Trp172Ser)
|
rs1597933929
|
|
|
NM_006361.6(HOXB13):c.515G>T (p.Trp172Leu)
|
rs1597933929
|
|
|
NM_006361.6(HOXB13):c.516G>C (p.Trp172Cys)
|
rs1597933923
|
|
|
NM_006361.6(HOXB13):c.516G>T (p.Trp172Cys)
|
rs1597933923
|
|
|
NM_006361.6(HOXB13):c.519T>C (p.Ala173=)
|
rs1597933919
|
|
|
NM_006361.6(HOXB13):c.521T>G (p.Leu174Arg)
|
rs1597933914
|
|
|
NM_006361.6(HOXB13):c.522_523insT (p.Ala175fs)
|
rs1597933910
|
|
|
NM_006361.6(HOXB13):c.526G>C (p.Gly176Arg)
|
rs747003841
|
|
|
NM_006361.6(HOXB13):c.528T>A (p.Gly176=)
|
rs1597933899
|
|
|
NM_006361.6(HOXB13):c.528T>G (p.Gly176=)
|
rs1597933899
|
|
|
NM_006361.6(HOXB13):c.529G>C (p.Gly177Arg)
|
rs1597933897
|
|
|
NM_006361.6(HOXB13):c.530_531insA (p.Trp178fs)
|
rs1597933890
|
|
|
NM_006361.6(HOXB13):c.531C>A (p.Gly177=)
|
rs1597933886
|
|
|
NM_006361.6(HOXB13):c.532del (p.Trp178fs)
|
rs1597933885
|
|
|
NM_006361.6(HOXB13):c.538dup (p.Ser180fs)
|
rs1597933880
|
|
|
NM_006361.6(HOXB13):c.539G>A (p.Ser180Asn)
|
rs1597933876
|
|
|
NM_006361.6(HOXB13):c.539G>T (p.Ser180Ile)
|
rs1597933876
|
|
|
NM_006361.6(HOXB13):c.53T>C (p.Leu18Ser)
|
rs1597935271
|
|
|
NM_006361.6(HOXB13):c.541C>T (p.Gln181Ter)
|
rs1597933874
|
|
|
NM_006361.6(HOXB13):c.542A>T (p.Gln181Leu)
|
rs570681642
|
|
|
NM_006361.6(HOXB13):c.543G>A (p.Gln181=)
|
rs1597933867
|
|
|
NM_006361.6(HOXB13):c.543G>T (p.Gln181His)
|
rs1597933867
|
|
|
NM_006361.6(HOXB13):c.544A>G (p.Met182Val)
|
rs1597933862
|
|
|
NM_006361.6(HOXB13):c.546G>T (p.Met182Ile)
|
rs748353425
|
|
|
NM_006361.6(HOXB13):c.547dup (p.Cys183fs)
|
rs1597933851
|
|
|
NM_006361.6(HOXB13):c.548G>C (p.Cys183Ser)
|
rs1597933846
|
|
|
NM_006361.6(HOXB13):c.549_550insG (p.Cys184fs)
|
rs1597933843
|
|
|
NM_006361.6(HOXB13):c.54del (p.Leu18fs)
|
rs1597935268
|
|
|
NM_006361.6(HOXB13):c.552C>A (p.Cys184Ter)
|
rs1597933837
|
|
|
NM_006361.6(HOXB13):c.553del (p.Gln185fs)
|
rs1597933831
|
|
|
NM_006361.6(HOXB13):c.554A>T (p.Gln185Leu)
|
rs1597933824
|
|
|
NM_006361.6(HOXB13):c.555G>A (p.Gln185=)
|
rs1597933822
|
|
|
NM_006361.6(HOXB13):c.556G>A (p.Gly186Arg)
|
rs1597933819
|
|
|
NM_006361.6(HOXB13):c.558A>G (p.Gly186=)
|
rs1597933806
|
|
|
NM_006361.6(HOXB13):c.558dup (p.Glu187fs)
|
rs1597933809
|
|
|
NM_006361.6(HOXB13):c.559_560insT (p.Glu187fs)
|
rs1597933803
|
|
|
NM_006361.6(HOXB13):c.55C>T (p.Leu19=)
|
rs1597935257
|
|
|
NM_006361.6(HOXB13):c.55del (p.Leu19fs)
|
rs1597935259
|
|
|
NM_006361.6(HOXB13):c.561A>T (p.Glu187Asp)
|
rs1597933795
|
|
|
NM_006361.6(HOXB13):c.564G>T (p.Gln188His)
|
rs1597933787
|
|
|
NM_006361.6(HOXB13):c.566dup (p.Asn189fs)
|
rs1597933784
|
|
|
NM_006361.6(HOXB13):c.567C>G (p.Asn189Lys)
|
rs143945091
|
|
|
NM_006361.6(HOXB13):c.569C>A (p.Pro190Gln)
|
rs1399523986
|
|
|
NM_006361.6(HOXB13):c.56T>C (p.Leu19Pro)
|
rs1597935255
|
|
|
NM_006361.6(HOXB13):c.56del (p.Leu19fs)
|
rs1597935256
|
|
|
NM_006361.6(HOXB13):c.570A>G (p.Pro190=)
|
rs754258114
|
|
|
NM_006361.6(HOXB13):c.573A>C (p.Pro191=)
|
rs1597933773
|
|
|
NM_006361.6(HOXB13):c.574G>C (p.Gly192Arg)
|
rs1274753809
|
|
|
NM_006361.6(HOXB13):c.575del (p.Gly192fs)
|
rs1597933767
|
|
|
NM_006361.6(HOXB13):c.578C>G (p.Pro193Arg)
|
rs1597933762
|
|
|
NM_006361.6(HOXB13):c.578C>T (p.Pro193Leu)
|
rs1597933762
|
|
|
NM_006361.6(HOXB13):c.57G>C (p.Leu19=)
|
rs1027470378
|
|
|
NM_006361.6(HOXB13):c.580T>C (p.Phe194Leu)
|
rs780355420
|
|
|
NM_006361.6(HOXB13):c.582_583insG (p.Trp195fs)
|
rs1597933756
|
|
|
NM_006361.6(HOXB13):c.583del (p.Trp195fs)
|
rs1597933754
|
|
|
NM_006361.6(HOXB13):c.584G>A (p.Trp195Ter)
|
rs1597933751
|
|
|
NM_006361.6(HOXB13):c.584G>C (p.Trp195Ser)
|
rs1597933751
|
|
|
NM_006361.6(HOXB13):c.585del (p.Phe194_Trp195insTer)
|
rs1597933747
|
|
|
NM_006361.6(HOXB13):c.586A>G (p.Lys196Glu)
|
rs1597933740
|
|
|
NM_006361.6(HOXB13):c.587A>C (p.Lys196Thr)
|
rs1597933731
|
|
|
NM_006361.6(HOXB13):c.587del (p.Lys196fs)
|
rs771483373
|
|
|
NM_006361.6(HOXB13):c.588G>A (p.Lys196=)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.588G>C (p.Lys196Asn)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.588G>T (p.Lys196Asn)
|
rs1597933728
|
|
|
NM_006361.6(HOXB13):c.589G>T (p.Ala197Ser)
|
rs756654236
|
|
|
NM_006361.6(HOXB13):c.589del (p.Ala197fs)
|
rs1597933725
|
|
|
NM_006361.6(HOXB13):c.58G>A (p.Gly20Arg)
|
rs1597935251
|
|
|
NM_006361.6(HOXB13):c.591A>G (p.Ala197=)
|
rs1597933713
|
|
|
NM_006361.6(HOXB13):c.594A>C (p.Ala198=)
|
rs1597933706
|
|
|
NM_006361.6(HOXB13):c.594del (p.Phe199fs)
|
rs1597933709
|
|
|
NM_006361.6(HOXB13):c.595T>C (p.Phe199Leu)
|
rs1597933703
|
|
|
NM_006361.6(HOXB13):c.597T>C (p.Phe199=)
|
rs1597933698
|
|
|
NM_006361.6(HOXB13):c.597dup (p.Ala200fs)
|
rs1597933702
|
|
|
NM_006361.6(HOXB13):c.598G>C (p.Ala200Pro)
|
rs750945370
|
|
|
NM_006361.6(HOXB13):c.599C>A (p.Ala200Glu)
|
rs1440293968
|
|
|
NM_006361.6(HOXB13):c.59del (p.Gly20fs)
|
rs1597935244
|
|
|
NM_006361.6(HOXB13):c.5A>C (p.Glu2Ala)
|
rs1597935440
|
|
|
NM_006361.6(HOXB13):c.5A>G (p.Glu2Gly)
|
rs1597935440
|
|
|
NM_006361.6(HOXB13):c.600dup (p.Asp201fs)
|
rs1597933685
|
|
|
NM_006361.6(HOXB13):c.601+18G>A
|
rs1597933657
|
|
|
NM_006361.6(HOXB13):c.601+19G>A
|
rs1597933655
|
|
|
NM_006361.6(HOXB13):c.601+19G>T
|
rs1597933655
|
|
|
NM_006361.6(HOXB13):c.601+23C>G
|
rs759189142
|
|
|
NM_006361.6(HOXB13):c.601+25T>G
|
rs1597933649
|
|
|
NM_006361.6(HOXB13):c.601+30T>A
|
rs1597933640
|
|
|
NM_006361.6(HOXB13):c.601+32T>A
|
rs1597933639
|
|
|
NM_006361.6(HOXB13):c.601+37C>T
|
rs1597933636
|
|
|
NM_006361.6(HOXB13):c.601+38T>G
|
rs1597933634
|
|
|
NM_006361.6(HOXB13):c.601+3A>C
|
rs1597933666
|
|
|
NM_006361.6(HOXB13):c.601+3A>T
|
rs1597933666
|
|
|
NM_006361.6(HOXB13):c.601+41G>T
|
rs1597933627
|
|
|
NM_006361.6(HOXB13):c.601+48G>C
|
rs1222228340
|
|
|
NM_006361.6(HOXB13):c.601+4C>G
|
rs1597933664
|
|
|
NM_006361.6(HOXB13):c.601+55A>G
|
rs1597933612
|
|
|
NM_006361.6(HOXB13):c.601+57G>A
|
rs1597933608
|
|
|
NM_006361.6(HOXB13):c.601+58G>T
|
rs143547955
|
|
|
NM_006361.6(HOXB13):c.601+5C>G
|
rs1597933663
|
|
|
NM_006361.6(HOXB13):c.601+62T>A
|
rs1597933604
|
|
|
NM_006361.6(HOXB13):c.601+64C>A
|
rs1597933603
|
|
|
NM_006361.6(HOXB13):c.601+66C>T
|
rs1597933599
|
|
|
NM_006361.6(HOXB13):c.601+69G>A
|
rs1597933598
|
|
|
NM_006361.6(HOXB13):c.601+72G>A
|
rs1597933590
|
|
|
NM_006361.6(HOXB13):c.601+75G>T
|
rs1597933582
|
|
|
NM_006361.6(HOXB13):c.601+81G>C
|
rs1597933581
|
|
|
NM_006361.6(HOXB13):c.601+85G>C
|
rs1597933579
|
|
|
NM_006361.6(HOXB13):c.601G>T (p.Asp201Tyr)
|
rs1597933678
|
|
|
NM_006361.6(HOXB13):c.601delinsTT (p.Asp201fs)
|
rs1597933681
|
|
|
NM_006361.6(HOXB13):c.602-103G>T
|
rs1597933244
|
|
|
NM_006361.6(HOXB13):c.602-103dup
|
rs1597933246
|
|
|
NM_006361.6(HOXB13):c.602-104T>G
|
rs1597933248
|
|
|
NM_006361.6(HOXB13):c.602-104dup
|
rs1597933251
|
|
|
NM_006361.6(HOXB13):c.602-105C>T
|
rs1597933255
|
|
|
NM_006361.6(HOXB13):c.602-108G>A
|
rs1597933258
|
|
|
NM_006361.6(HOXB13):c.602-110dup
|
rs1597933260
|
|
|
NM_006361.6(HOXB13):c.602-113A>G
|
rs1597933261
|
|
|
NM_006361.6(HOXB13):c.602-114T>A
|
rs1597933263
|
|
|
NM_006361.6(HOXB13):c.602-114T>G
|
rs1597933263
|
|
|
NM_006361.6(HOXB13):c.602-115G>T
|
rs1597933266
|
|
|
NM_006361.6(HOXB13):c.602-115dup
|
rs1597933269
|
|
|
NM_006361.6(HOXB13):c.602-120C>G
|
rs1597933270
|
|
|
NM_006361.6(HOXB13):c.602-12C>A
|
rs1597933106
|
|
|
NM_006361.6(HOXB13):c.602-16C>T
|
rs1597933108
|
|
|
NM_006361.6(HOXB13):c.602-30C>T
|
rs774673264
|
|
|
NM_006361.6(HOXB13):c.602-31C>G
|
rs1597933116
|
|
|
NM_006361.6(HOXB13):c.602-37A>C
|
rs1597933120
|
|
|
NM_006361.6(HOXB13):c.602-3C>A
|
rs1597933077
|
|
|
NM_006361.6(HOXB13):c.602-40C>A
|
rs1597933123
|
|
|
NM_006361.6(HOXB13):c.602-40C>T
|
rs1597933123
|
|
|
NM_006361.6(HOXB13):c.602-42A>T
|
rs1597933131
|
|
|
NM_006361.6(HOXB13):c.602-43T>A
|
rs1597933134
|
|
|
NM_006361.6(HOXB13):c.602-47T>G
|
rs1597933137
|
|
|
NM_006361.6(HOXB13):c.602-51T>G
|
rs1597933159
|
|
|
NM_006361.6(HOXB13):c.602-51delinsCC
|
rs1597933160
|
|
|
NM_006361.6(HOXB13):c.602-52A>C
|
rs1597933162
|
|
|
NM_006361.6(HOXB13):c.602-55T>C
|
rs1597933163
|
|
|
NM_006361.6(HOXB13):c.602-55T>G
|
rs1597933163
|
|
|
NM_006361.6(HOXB13):c.602-61T>A
|
rs1597933169
|
|
|
NM_006361.6(HOXB13):c.602-61T>G
|
rs1597933169
|
|
|
NM_006361.6(HOXB13):c.602-62delinsAA
|
rs1597933172
|
|
|
NM_006361.6(HOXB13):c.602-64G>C
|
rs746927039
|
|
|
NM_006361.6(HOXB13):c.602-66dup
|
rs1597933182
|
|
|
NM_006361.6(HOXB13):c.602-69G>C
|
rs556583174
|
|
|
NM_006361.6(HOXB13):c.602-71T>C
|
rs1597933186
|
|
|
NM_006361.6(HOXB13):c.602-71_602-70insC
|
rs1597933185
|
|
|
NM_006361.6(HOXB13):c.602-72_602-71insA
|
rs1597933188
|
|
|
NM_006361.6(HOXB13):c.602-75G>A
|
rs1597933195
|
|
|
NM_006361.6(HOXB13):c.602-79C>G
|
rs1597933200
|
|
|
NM_006361.6(HOXB13):c.602-79C>T
|
rs1597933200
|
|
|
NM_006361.6(HOXB13):c.602-80dup
|
rs1597933203
|
|
|
NM_006361.6(HOXB13):c.602-81_602-80insC
|
rs1597933206
|
|
|
NM_006361.6(HOXB13):c.602-82T>G
|
rs1597933213
|
|
|
NM_006361.6(HOXB13):c.602-84C>A
|
rs1024986667
|
|
|
NM_006361.6(HOXB13):c.602-86G>A
|
rs1597933215
|
|
|
NM_006361.6(HOXB13):c.602-87T>A
|
rs1597933217
|
|
|
NM_006361.6(HOXB13):c.602-89G>A
|
rs1597933220
|
|
|
NM_006361.6(HOXB13):c.602-90A>T
|
rs1597933225
|
|
|
NM_006361.6(HOXB13):c.602-91G>A
|
rs1597933229
|
|
|
NM_006361.6(HOXB13):c.602-94dup
|
rs1597933230
|
|
|
NM_006361.6(HOXB13):c.602-95C>G
|
rs1280633931
|
|
|
NM_006361.6(HOXB13):c.602-97A>C
|
rs1597933239
|
|
|
NM_006361.6(HOXB13):c.603C>A (p.Asp201Glu)
|
rs1597933068
|
|
|
NM_006361.6(HOXB13):c.603C>T (p.Asp201=)
|
rs1597933068
|
|
|
NM_006361.6(HOXB13):c.603del (p.Ser202fs)
|
rs1597933069
|
|
|
NM_006361.6(HOXB13):c.604dup (p.Ser202fs)
|
rs1597933066
|
|
|
NM_006361.6(HOXB13):c.609C>G (p.Ser203Arg)
|
rs1343659361
|
|
|
NM_006361.6(HOXB13):c.609del (p.Ser203fs)
|
rs1597933057
|
|
|
NM_006361.6(HOXB13):c.60A>G (p.Gly20=)
|
rs1597935240
|
|
|
NM_006361.6(HOXB13):c.612dup (p.Gln205fs)
|
rs1597933040
|
|
|
NM_006361.6(HOXB13):c.613C>G (p.Gln205Glu)
|
rs1387241173
|
|
|
NM_006361.6(HOXB13):c.614A>T (p.Gln205Leu)
|
rs761530565
|
|
|
NM_006361.6(HOXB13):c.614dup (p.His206fs)
|
rs1597933031
|
|
|
NM_006361.6(HOXB13):c.615G>T (p.Gln205His)
|
rs766169510
|
|
|
NM_006361.6(HOXB13):c.615_616insGC (p.His206fs)
|
rs1597933018
|
|
|
NM_006361.6(HOXB13):c.617A>C (p.His206Pro)
|
rs1597933012
|
|
|
NM_006361.6(HOXB13):c.617A>T (p.His206Leu)
|
rs1597933012
|
|
|
NM_006361.6(HOXB13):c.619C>T (p.Pro207Ser)
|
rs1597933009
|
|
|
NM_006361.6(HOXB13):c.61del (p.Ala21fs)
|
rs1597935236
|
|
|
NM_006361.6(HOXB13):c.61dup (p.Ala21fs)
|
rs1597935235
|
|
|
NM_006361.6(HOXB13):c.623C>T (p.Pro208Leu)
|
rs1597932994
|
|
|
NM_006361.6(HOXB13):c.623del (p.Pro208fs)
|
rs1597932995
|
|
|
NM_006361.6(HOXB13):c.625G>A (p.Asp209Asn)
|
rs1597932987
|
|
|
NM_006361.6(HOXB13):c.626A>C (p.Asp209Ala)
|
rs1597932982
|
|
|
NM_006361.6(HOXB13):c.627C>G (p.Asp209Glu)
|
rs1175181412
|
|
|
NM_006361.6(HOXB13):c.62C>G (p.Ala21Gly)
|
rs772484566
|
|
|
NM_006361.6(HOXB13):c.62del (p.Ala21fs)
|
rs1597935233
|
|
|
NM_006361.6(HOXB13):c.630C>G (p.Ala210=)
|
rs1597932970
|
|
|
NM_006361.6(HOXB13):c.630C>T (p.Ala210=)
|
rs1597932970
|
|
|
NM_006361.6(HOXB13):c.631dup (p.Cys211fs)
|
rs1597932968
|
|
|
NM_006361.6(HOXB13):c.634G>C (p.Ala212Pro)
|
rs145059285
|
|
|
NM_006361.6(HOXB13):c.639T>C (p.Phe213=)
|
rs1597932949
|
|
|
NM_006361.6(HOXB13):c.640C>A (p.Arg214Ser)
|
rs1187061907
|
|
|
NM_006361.6(HOXB13):c.640del (p.Arg214fs)
|
rs1597932942
|
|
|
NM_006361.6(HOXB13):c.641G>C (p.Arg214Pro)
|
rs1466480316
|
|
|
NM_006361.6(HOXB13):c.643del (p.Arg215fs)
|
rs1597932928
|
|
|
NM_006361.6(HOXB13):c.646G>C (p.Gly216Arg)
|
rs375917549
|
|
|
NM_006361.6(HOXB13):c.647dup (p.Arg217fs)
|
rs1597932913
|
|
|
NM_006361.6(HOXB13):c.650G>C (p.Arg217Pro)
|
rs749518336
|
|
|
NM_006361.6(HOXB13):c.651C>A (p.Arg217=)
|
rs1597932901
|
|
|
NM_006361.6(HOXB13):c.654G>A (p.Lys218=)
|
rs1597932894
|
|
|
NM_006361.6(HOXB13):c.654del (p.Lys219fs)
|
rs1597932897
|
|
|
NM_006361.6(HOXB13):c.657A>C (p.Lys219Asn)
|
rs1597932892
|
|
|
NM_006361.6(HOXB13):c.657dup (p.Arg220fs)
|
rs1597932893
|
|
|
NM_006361.6(HOXB13):c.658del (p.Arg220fs)
|
rs1597932885
|
|
|
NM_006361.6(HOXB13):c.660dup (p.Ile221fs)
|
rs1597932876
|
|
|
NM_006361.6(HOXB13):c.665del (p.Pro222fs)
|
rs1597932866
|
|
|
NM_006361.6(HOXB13):c.666dup (p.Tyr223fs)
|
rs1597932860
|
|
|
NM_006361.6(HOXB13):c.667T>G (p.Tyr223Asp)
|
rs1365586165
|
|
|
NM_006361.6(HOXB13):c.66A>C (p.Gly22=)
|
rs1597935219
|
|
|
NM_006361.6(HOXB13):c.66A>G (p.Gly22=)
|
rs1597935219
|
|
|
NM_006361.6(HOXB13):c.671G>C (p.Ser224Thr)
|
rs1597932847
|
|
|
NM_006361.6(HOXB13):c.671G>T (p.Ser224Ile)
|
rs1597932847
|
|
|
NM_006361.6(HOXB13):c.678del (p.Gln227fs)
|
rs1597932836
|
|
|
NM_006361.6(HOXB13):c.67G>C (p.Gly23Arg)
|
rs769323553
|
|
|
NM_006361.6(HOXB13):c.67_68insC (p.Gly23fs)
|
rs1597935217
|
|
|
NM_006361.6(HOXB13):c.688G>A (p.Glu230Lys)
|
rs1302905544
|
|
|
NM_006361.6(HOXB13):c.68G>C (p.Gly23Ala)
|
rs745392080
|
|
|
NM_006361.6(HOXB13):c.695A>G (p.Glu232Gly)
|
rs1597932808
|
|
|
NM_006361.6(HOXB13):c.696G>C (p.Glu232Asp)
|
rs1597932804
|
|
|
NM_006361.6(HOXB13):c.696del (p.Glu232fs)
|
rs1597932805
|
|
|
NM_006361.6(HOXB13):c.69G>A (p.Gly23=)
|
rs1597935212
|
|
|
NM_006361.6(HOXB13):c.6_7insA (p.Pro3fs)
|
rs1597935423
|
|
|
NM_006361.6(HOXB13):c.701dup (p.Tyr235fs)
|
rs1597932794
|
|
|
NM_006361.6(HOXB13):c.704A>T (p.Tyr235Phe)
|
rs1597932789
|
|
|
NM_006361.6(HOXB13):c.705del (p.Glu234_Tyr235insTer)
|
rs1597932786
|
|
|
NM_006361.6(HOXB13):c.706del (p.Ala236fs)
|
rs1597932784
|
|
|
NM_006361.6(HOXB13):c.707C>G (p.Ala236Gly)
|
rs754487444
|
|
|
NM_006361.6(HOXB13):c.708G>C (p.Ala236=)
|
rs555201890
|
|
|
NM_006361.6(HOXB13):c.70G>C (p.Gly24Arg)
|
rs780947625
|
|
|
NM_006361.6(HOXB13):c.710C>T (p.Ala237Val)
|
rs1597932777
|
|
|
NM_006361.6(HOXB13):c.711dup (p.Asn238Ter)
|
rs1597932775
|
|
|
NM_006361.6(HOXB13):c.712A>T (p.Asn238Tyr)
|
rs1597932772
|
|
|
NM_006361.6(HOXB13):c.716del (p.Lys239fs)
|
rs1597932766
|
|
|
NM_006361.6(HOXB13):c.717del (p.Lys239fs)
|
rs1597932763
|
|
|
NM_006361.6(HOXB13):c.720C>T (p.Phe240=)
|
rs1597932759
|
|
|
NM_006361.6(HOXB13):c.724A>C (p.Thr242Pro)
|
rs1597932755
|
|
|
NM_006361.6(HOXB13):c.725C>A (p.Thr242Asn)
|
rs1254153147
|
|
|
NM_006361.6(HOXB13):c.726C>T (p.Thr242=)
|
rs1597932743
|
|
|
NM_006361.6(HOXB13):c.727A>C (p.Lys243Gln)
|
rs1597932741
|
|
|
NM_006361.6(HOXB13):c.727A>T (p.Lys243Ter)
|
rs1597932741
|
|
|
NM_006361.6(HOXB13):c.729_735del (p.Asp244fs)
|
rs1597932727
|
|
|
NM_006361.6(HOXB13):c.730dup (p.Asp244fs)
|
rs1597932737
|
|
|
NM_006361.6(HOXB13):c.731A>G (p.Asp244Gly)
|
rs1597932732
|
|
|
NM_006361.6(HOXB13):c.734del (p.Lys245fs)
|
rs1597932729
|
|
|
NM_006361.6(HOXB13):c.736dup (p.Arg246fs)
|
rs1597932718
|
|
|
NM_006361.6(HOXB13):c.73C>T (p.Arg25Trp)
|
rs1597935204
|
|
|
NM_006361.6(HOXB13):c.740G>C (p.Arg247Pro)
|
rs767502912
|
|
|
NM_006361.6(HOXB13):c.740del (p.Arg247fs)
|
rs1597932706
|
|
|
NM_006361.6(HOXB13):c.742A>C (p.Lys248Gln)
|
rs1243575757
|
|
|
NM_006361.6(HOXB13):c.743A>T (p.Lys248Met)
|
rs1597932694
|
|
|
NM_006361.6(HOXB13):c.744G>T (p.Lys248Asn)
|
rs1597932691
|
|
|
NM_006361.6(HOXB13):c.746T>A (p.Ile249Asn)
|
rs1597932688
|
|
|
NM_006361.6(HOXB13):c.747C>T (p.Ile249=)
|
rs761824576
|
|
|
NM_006361.6(HOXB13):c.749C>G (p.Ser250Trp)
|
rs751610575
|
|
|
NM_006361.6(HOXB13):c.750G>C (p.Ser250=)
|
rs764201750
|
|
|
NM_006361.6(HOXB13):c.751del (p.Ala251fs)
|
rs1597932670
|
|
|
NM_006361.6(HOXB13):c.753A>C (p.Ala251=)
|
rs762991673
|
|
|
NM_006361.6(HOXB13):c.753del (p.Ala252fs)
|
rs1597932666
|
|
|
NM_006361.6(HOXB13):c.757A>T (p.Thr253Ser)
|
rs775731553
|
|
|
NM_006361.6(HOXB13):c.757_758del (p.Thr253fs)
|
rs1597932641
|
|
|
NM_006361.6(HOXB13):c.757del (p.Thr253fs)
|
rs1597932656
|
|
|
NM_006361.6(HOXB13):c.760A>C (p.Ser254Arg)
|
rs1597932626
|
|
|
NM_006361.6(HOXB13):c.760del (p.Ser254fs)
|
rs1597932635
|
|
|
NM_006361.6(HOXB13):c.760delinsCC (p.Ser254fs)
|
rs1597932629
|
|
|
NM_006361.6(HOXB13):c.762C>T (p.Ser254=)
|
rs1597932620
|
|
|
NM_006361.6(HOXB13):c.763dup (p.Leu255fs)
|
rs1597932616
|
|
|
NM_006361.6(HOXB13):c.765C>T (p.Leu255=)
|
rs1597932610
|
|
|
NM_006361.6(HOXB13):c.767C>G (p.Ser256Trp)
|
rs1555558453
|
|
|
NM_006361.6(HOXB13):c.768G>C (p.Ser256=)
|
rs917899187
|
|
|
NM_006361.6(HOXB13):c.769dup (p.Glu257fs)
|
rs770443137
|
|
|
NM_006361.6(HOXB13):c.76A>G (p.Asn26Asp)
|
rs1597935195
|
|
|
NM_006361.6(HOXB13):c.770A>G (p.Glu257Gly)
|
rs1597932595
|
|
|
NM_006361.6(HOXB13):c.771G>A (p.Glu257=)
|
rs1597932591
|
|
|
NM_006361.6(HOXB13):c.772del (p.Arg258fs)
|
rs1597932585
|
|
|
NM_006361.6(HOXB13):c.774C>G (p.Arg258=)
|
rs771352907
|
|
|
NM_006361.6(HOXB13):c.776A>C (p.Gln259Pro)
|
rs1597932564
|
|
|
NM_006361.6(HOXB13):c.776del (p.Gln259fs)
|
rs1597932567
|
|
|
NM_006361.6(HOXB13):c.77A>C (p.Asn26Thr)
|
rs1597935191
|
|
|
NM_006361.6(HOXB13):c.784A>C (p.Ile262Leu)
|
rs1207429780
|
|
|
NM_006361.6(HOXB13):c.784del (p.Ile262fs)
|
rs1597932545
|
|
|
NM_006361.6(HOXB13):c.789dup (p.Phe264fs)
|
rs1597932539
|
|
|
NM_006361.6(HOXB13):c.78T>A (p.Asn26Lys)
|
rs1597935187
|
|
|
NM_006361.6(HOXB13):c.790T>G (p.Phe264Val)
|
rs1597932533
|
|
|
NM_006361.6(HOXB13):c.795G>T (p.Gln265His)
|
rs1291038862
|
|
|
NM_006361.6(HOXB13):c.795del (p.Asn266fs)
|
rs1597932525
|
|
|
NM_006361.6(HOXB13):c.796A>C (p.Asn266His)
|
rs1597932521
|
|
|
NM_006361.6(HOXB13):c.797A>C (p.Asn266Thr)
|
rs1597932515
|
|
|
NM_006361.6(HOXB13):c.799dup (p.Arg267fs)
|
rs1597932507
|
|
|
NM_006361.6(HOXB13):c.79C>A (p.Leu27Met)
|
rs1597935186
|
|
|
NM_006361.6(HOXB13):c.79C>G (p.Leu27Val)
|
rs1597935186
|
|
|
NM_006361.6(HOXB13):c.7C>G (p.Pro3Ala)
|
rs546307661
|
|
|
NM_006361.6(HOXB13):c.800G>C (p.Arg267Pro)
|
rs1403127755
|
|
|
NM_006361.6(HOXB13):c.800del (p.Arg267fs)
|
rs1597932495
|
|
|
NM_006361.6(HOXB13):c.802dup (p.Arg268fs)
|
rs1597932489
|
|
|
NM_006361.6(HOXB13):c.805G>T (p.Val269Phe)
|
rs1597932479
|
|
|
NM_006361.6(HOXB13):c.807C>G (p.Val269=)
|
rs1289659465
|
|
|
NM_006361.6(HOXB13):c.807del (p.Glu271fs)
|
rs1597932473
|
|
|
NM_006361.6(HOXB13):c.811G>A (p.Glu271Lys)
|
rs1597932467
|
|
|
NM_006361.6(HOXB13):c.811del (p.Glu271fs)
|
rs1597932468
|
|
|
NM_006361.6(HOXB13):c.812dup (p.Lys272fs)
|
rs1597932465
|
|
|
NM_006361.6(HOXB13):c.813G>A (p.Glu271=)
|
rs1597932461
|
|
|
NM_006361.6(HOXB13):c.813G>T (p.Glu271Asp)
|
rs1597932461
|
|
|
NM_006361.6(HOXB13):c.815del (p.Lys272fs)
|
rs1597932456
|
|
|
NM_006361.6(HOXB13):c.816G>A (p.Lys272=)
|
rs1597932452
|
|
|
NM_006361.6(HOXB13):c.816G>T (p.Lys272Asn)
|
rs1597932452
|
|
|
NM_006361.6(HOXB13):c.81G>T (p.Leu27=)
|
rs1319038051
|
|
|
NM_006361.6(HOXB13):c.81_86del (p.Val28_Ala29del)
|
rs1597935163
|
|
|
NM_006361.6(HOXB13):c.821T>G (p.Val274Gly)
|
rs1597932443
|
|
|
NM_006361.6(HOXB13):c.822del (p.Leu275fs)
|
rs1597932441
|
|
|
NM_006361.6(HOXB13):c.829A>C (p.Lys277Gln)
|
rs1597932430
|
|
|
NM_006361.6(HOXB13):c.82G>T (p.Val28Phe)
|
rs1597935171
|
|
|
NM_006361.6(HOXB13):c.82del (p.Val28fs)
|
rs1597935175
|
|
|
NM_006361.6(HOXB13):c.830del (p.Lys277fs)
|
rs1597932429
|
|
|
NM_006361.6(HOXB13):c.832del (p.Lys277_Val278insTer)
|
rs1597932428
|
|
|
NM_006361.6(HOXB13):c.833del (p.Val278fs)
|
rs1597932416
|
|
|
NM_006361.6(HOXB13):c.837G>A (p.Lys279=)
|
rs1597932409
|
|
|
NM_006361.6(HOXB13):c.840C>A (p.Asn280Lys)
|
rs1597932404
|
|
|
NM_006361.6(HOXB13):c.842del (p.Ser281fs)
|
rs1597932400
|
|
|
NM_006361.6(HOXB13):c.844G>C (p.Ala282Pro)
|
rs752722523
|
|
|
NM_006361.6(HOXB13):c.846del (p.Thr283fs)
|
rs1597932390
|
|
|
NM_006361.6(HOXB13):c.84del (p.Ala29fs)
|
rs1597935169
|
|
|
NM_006361.6(HOXB13):c.851dup (p.Ter285LeuextTer?)
|
rs1597932381
|
|
|
NM_006361.6(HOXB13):c.852T>C (p.Pro284=)
|
rs1597932380
|
|
|
NM_006361.6(HOXB13):c.853_854insTA (p.Ter285LeuextTer?)
|
|
|
|
NM_006361.6(HOXB13):c.85G>C (p.Ala29Pro)
|
rs756970136
|
|
|
NM_006361.6(HOXB13):c.86C>A (p.Ala29Asp)
|
rs1223082509
|
|
|
NM_006361.6(HOXB13):c.88C>T (p.His30Tyr)
|
rs1597935153
|
|
|
NM_006361.6(HOXB13):c.88del (p.His30fs)
|
rs1597935158
|
|
|
NM_006361.6(HOXB13):c.91T>C (p.Ser31Pro)
|
rs1597935143
|
|
|
NM_006361.6(HOXB13):c.95del (p.Pro32fs)
|
rs1597935131
|
|
|
NM_006361.6(HOXB13):c.97C>G (p.Leu33Val)
|
rs79344505
|
|
|
NM_006361.6(HOXB13):c.97del (p.Pro32_Leu33insTer)
|
rs1597935122
|
|
|
NM_006361.6(HOXB13):c.9C>G (p.Pro3=)
|
rs1597935416
|
|
|
NM_006361.6(HOXB13):c.9_10insT (p.Gly4fs)
|
rs1597935413
|
|
|
NM_006368.5(CREB3):c.823T>G (p.Tyr275Asp)
|
rs869025236
|
|
|
NM_006412.4(AGPAT2):c.248del (p.Pro83fs)
|
rs193920848
|
|
|
NM_006517.5(SLC16A2):c.1451G>T (p.Gly484Val)
|
rs193920756
|
|
|
NM_006587.4(CORIN):c.1400C>G (p.Pro467Arg)
|
rs193921036
|
|
|
NM_006618.5(KDM5B):c.1536C>G (p.His512Gln)
|
|
|
|
NM_006639.4(CYSLTR1):c.68del (p.Asn23fs)
|
rs193920986
|
|
|
NM_006790.3(MYOT):c.686G>T (p.Ser229Ile)
|
rs193920888
|
|
|
NM_006833.5(COPS6):c.631A>C (p.Ser211Arg)
|
rs193921011
|
|
|
NM_006982.3(ALX1):c.791G>T (p.Gly264Val)
|
|
|
|
NM_007002.4(ADRM1):c.653C>A (p.Pro218Gln)
|
rs193921052
|
|
|
NM_007039.4(PTPN21):c.94A>C (p.Asn32His)
|
rs193920899
|
|
|
NM_007067.5(KAT7):c.1687C>T (p.Gln563Ter)
|
rs193921114
|
|
|
NM_007112.5(THBS3):c.1440G>T (p.Gln480His)
|
rs193920931
|
|
|
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup
|
|
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
|
NM_007194.3(CHEK2):c.320-?_*154+?dup
|
|
|
|
NM_007194.3(CHEK2):c.593-?_*154dup1194
|
|
|
|
NM_007194.3(CHEK2):c.684-?_*154+?dup
|
|
|
|
NM_007194.3(CHEK2):c.686_688del
|
rs2053418933
|
|
|
NM_007194.4(CHEK2):c.-6-2A>G
|
rs1555932985
|
|
|
NM_007194.4(CHEK2):c.-6-4T>C
|
|
|
|
NM_007194.4(CHEK2):c.-7+4A>G
|
rs1601377191
|
|
|
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr)
|
rs864622371
|
|
|
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro)
|
rs864622371
|
|
|
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp)
|
rs1555915316
|
|
|
NM_007194.4(CHEK2):c.1001C>T (p.Ala334Val)
|
|
|
|
NM_007194.4(CHEK2):c.1003G>A (p.Val335Met)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1003G>T (p.Val335Leu)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro)
|
rs1300388084
|
|
|
NM_007194.4(CHEK2):c.1007A>G (p.Gln336Arg)
|
rs1300388084
|
|
|
NM_007194.4(CHEK2):c.1008+4A>G
|
rs2052755619
|
|
|
NM_007194.4(CHEK2):c.1009-13_1009-6del
|
rs2052616228
|
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
|
NM_007194.4(CHEK2):c.1009-3T>G
|
rs2145818421
|
|
|
NM_007194.4(CHEK2):c.1009-3del
|
rs1555914390
|
|
|
NM_007194.4(CHEK2):c.1009-5T>A
|
rs1555914393
|
|
|
NM_007194.4(CHEK2):c.1009-5T>G
|
|
|
|
NM_007194.4(CHEK2):c.1009T>C (p.Tyr337His)
|
rs2052615357
|
|
|
NM_007194.4(CHEK2):c.1009T>G (p.Tyr337Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1010A>G (p.Tyr337Cys)
|
rs1555914376
|
|
|
NM_007194.4(CHEK2):c.1012C>G (p.Leu338Val)
|
rs587782441
|
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
|
NM_007194.4(CHEK2):c.1014_1015delinsGT (p.His339Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.1015C>A (p.His339Asn)
|
rs371207635
|
|
|
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr)
|
rs371207635
|
|
|
NM_007194.4(CHEK2):c.1016A>C (p.His339Pro)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1016A>T (p.His339Leu)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln)
|
rs2052614326
|
|
|
NM_007194.4(CHEK2):c.101A>G (p.Gln34Arg)
|
rs2146152117
|
|
|
NM_007194.4(CHEK2):c.1021A>C (p.Asn341His)
|
rs2145817987
|
|
|
NM_007194.4(CHEK2):c.1021A>G (p.Asn341Asp)
|
rs2145817987
|
|
|
NM_007194.4(CHEK2):c.1022A>G (p.Asn341Ser)
|
rs773846607
|
|
|
NM_007194.4(CHEK2):c.1024_1032dup (p.Ile344_His345insGlyIleIle)
|
|
|
|
NM_007194.4(CHEK2):c.1025G>A (p.Gly342Asp)
|
rs1555914358
|
|
|
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val)
|
rs1555914358
|
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
|
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser)
|
rs863224746
|
|
|
NM_007194.4(CHEK2):c.1029T>G (p.Ile343Met)
|
rs2145817747
|
|
|
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr)
|
rs1569116223
|
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
|
NM_007194.4(CHEK2):c.1034A>C (p.His345Pro)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1034A>G (p.His345Arg)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1034A>T (p.His345Leu)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1035C>A (p.His345Gln)
|
rs756520206
|
|
|
NM_007194.4(CHEK2):c.1036C>A (p.Arg346Ser)
|
rs201206424
|
|
|
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly)
|
rs201206424
|
|
|
NM_007194.4(CHEK2):c.1037G>C (p.Arg346Pro)
|
rs730881688
|
|
|
NM_007194.4(CHEK2):c.1040A>G (p.Asp347Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1041C>G (p.Asp347Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1044A>T (p.Leu348Phe)
|
|
|
|
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu)
|
rs730881689
|
|
|
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala)
|
rs876659406
|
|
|
NM_007194.4(CHEK2):c.1048C>T (p.Pro350Ser)
|
rs876659406
|
|
|
NM_007194.4(CHEK2):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
|
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe)
|
rs786203185
|
|
|
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys)
|
rs1555914308
|
|
|
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln)
|
rs1555914308
|
|
|
NM_007194.4(CHEK2):c.1052A>G (p.Glu351Gly)
|
rs786202893
|
|
|
NM_007194.4(CHEK2):c.1054A>C (p.Asn352His)
|
rs1361935182
|
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
|
NM_007194.4(CHEK2):c.1055A>C (p.Asn352Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
|
NM_007194.4(CHEK2):c.1056T>A (p.Asn352Lys)
|
rs1060502709
|
|
|
NM_007194.4(CHEK2):c.1056T>G (p.Asn352Lys)
|
rs1060502709
|
|
|
NM_007194.4(CHEK2):c.1058T>A (p.Val353Asp)
|
rs758434121
|
|
|
NM_007194.4(CHEK2):c.1058T>C (p.Val353Ala)
|
rs758434121
|
|
|
NM_007194.4(CHEK2):c.1059_1064del (p.Leu354_Leu355del)
|
|
|
|
NM_007194.4(CHEK2):c.1061T>C (p.Leu354Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1062A>C (p.Leu354Phe)
|
rs1427613188
|
|
|
NM_007194.4(CHEK2):c.1063C>G (p.Leu355Val)
|
rs786201130
|
|
|
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro)
|
rs2052608641
|
|
|
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro)
|
rs2052608443
|
|
|
NM_007194.4(CHEK2):c.1069T>A (p.Ser357Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1069T>C (p.Ser357Pro)
|
rs2052608225
|
|
|
NM_007194.4(CHEK2):c.1070C>G (p.Ser357Cys)
|
rs765425451
|
|
|
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
|
rs765425451
|
|
|
NM_007194.4(CHEK2):c.1073A>G (p.Gln358Arg)
|
rs2145816153
|
|
|
NM_007194.4(CHEK2):c.1074A>C (p.Gln358His)
|
rs2052607496
|
|
|
NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
|
NM_007194.4(CHEK2):c.1079A>T (p.Glu360Val)
|
rs2052606933
|
|
|
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr)
|
rs199859140
|
|
|
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr)
|
rs767306337
|
|
|
NM_007194.4(CHEK2):c.1085G>T (p.Cys362Phe)
|
rs767306337
|
|
|
NM_007194.4(CHEK2):c.1087C>T (p.Leu363Phe)
|
rs1569115748
|
|
|
NM_007194.4(CHEK2):c.1088T>A (p.Leu363His)
|
|
|
|
NM_007194.4(CHEK2):c.1091T>A (p.Ile364Lys)
|
rs774179198
|
|
|
NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)
|
rs876659921
|
|
|
NM_007194.4(CHEK2):c.1094A>C (p.Lys365Thr)
|
rs1555914237
|
|
|
NM_007194.4(CHEK2):c.1094A>G (p.Lys365Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1094_1095inv (p.Lys365Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1095+3A>G
|
rs1601726484
|
|
|
NM_007194.4(CHEK2):c.1095+3A>T
|
rs1601726484
|
|
|
NM_007194.4(CHEK2):c.1095+5G>C
|
rs1601726470
|
|
|
NM_007194.4(CHEK2):c.1095+5_1095+6del
|
rs1601726457
|
|
|
NM_007194.4(CHEK2):c.1095G>A (p.Lys365=)
|
rs1601726502
|
|
|
NM_007194.4(CHEK2):c.1095G>T (p.Lys365Asn)
|
rs1601726502
|
|
|
NM_007194.4(CHEK2):c.1096-10T>A
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1096-10T>G
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1096-15_1096-14insA
|
|
|
|
NM_007194.4(CHEK2):c.1096-3T>G
|
|
|
|
NM_007194.4(CHEK2):c.1096-7A>G
|
rs2052567957
|
|
|
NM_007194.4(CHEK2):c.1096A>G (p.Ile366Val)
|
rs1601723767
|
|
|
NM_007194.4(CHEK2):c.1096A>T (p.Ile366Phe)
|
rs1601723767
|
|
|
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.1097T>C (p.Ile366Thr)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.1097T>G (p.Ile366Ser)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.109G>A (p.Gly37Ser)
|
rs2054329987
|
|
|
NM_007194.4(CHEK2):c.109G>C (p.Gly37Arg)
|
rs2054329987
|
|
|
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys)
|
rs1555932959
|
|
|
NM_007194.4(CHEK2):c.1100C>G (p.Thr367Ser)
|
rs878854910
|
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
|
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)
|
rs1555913929
|
|
|
NM_007194.4(CHEK2):c.1104T>A (p.Asp368Glu)
|
rs1601723630
|
|
|
NM_007194.4(CHEK2):c.1105T>A (p.Phe369Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1106T>C (p.Phe369Ser)
|
rs2145806968
|
|
|
NM_007194.4(CHEK2):c.1107T>G (p.Phe369Leu)
|
rs1555913927
|
|
|
NM_007194.4(CHEK2):c.1108G>A (p.Gly370Arg)
|
rs1555913924
|
|
|
NM_007194.4(CHEK2):c.1108G>C (p.Gly370Arg)
|
rs1555913924
|
|
|
NM_007194.4(CHEK2):c.1108G>T (p.Gly370Trp)
|
|
|
|
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.1109G>T (p.Gly370Val)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.110G>T (p.Gly37Val)
|
rs764750609
|
|
|
NM_007194.4(CHEK2):c.1112A>C (p.His371Pro)
|
rs1601723545
|
|
|
NM_007194.4(CHEK2):c.1112A>G (p.His371Arg)
|
rs1601723545
|
|
|
NM_007194.4(CHEK2):c.1113C>G (p.His371Gln)
|
rs876659094
|
|
|
NM_007194.4(CHEK2):c.1114T>C (p.Ser372Pro)
|
rs1555913901
|
|
|
NM_007194.4(CHEK2):c.1114T>G (p.Ser372Ala)
|
rs1555913901
|
|
|
NM_007194.4(CHEK2):c.1115C>A (p.Ser372Tyr)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1116_1136del (p.Lys373_Ser379del)
|
|
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
|
NM_007194.4(CHEK2):c.1121T>C (p.Ile374Thr)
|
rs2145806352
|
|
|
NM_007194.4(CHEK2):c.1125G>C (p.Leu375Phe)
|
rs2145806184
|
|
|
NM_007194.4(CHEK2):c.1127G>A (p.Gly376Glu)
|
rs1601723393
|
|
|
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)
|
rs774192195
|
|
|
NM_007194.4(CHEK2):c.1131G>C (p.Glu377Asp)
|
rs2052563481
|
|
|
NM_007194.4(CHEK2):c.1132A>G (p.Thr378Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser)
|
rs1601723329
|
|
|
NM_007194.4(CHEK2):c.1135T>C (p.Ser379Pro)
|
rs2052562867
|
|
|
NM_007194.4(CHEK2):c.1135T>G (p.Ser379Ala)
|
rs2052562867
|
|
|
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys)
|
rs267606211
|
|
|
NM_007194.4(CHEK2):c.1136C>T (p.Ser379Phe)
|
rs267606211
|
|
|
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr)
|
rs2054329519
|
|
|
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu)
|
rs375130261
|
|
|
NM_007194.4(CHEK2):c.1141A>T (p.Met381Leu)
|
rs375130261
|
|
|
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr)
|
rs1569114039
|
|
|
NM_007194.4(CHEK2):c.1143G>A (p.Met381Ile)
|
rs1601723143
|
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
|
NM_007194.4(CHEK2):c.1148C>T (p.Thr383Ile)
|
rs202089930
|
|
|
NM_007194.4(CHEK2):c.1152A>T (p.Leu384Phe)
|
rs1060502715
|
|
|
NM_007194.4(CHEK2):c.1153T>G (p.Cys385Gly)
|
rs587782817
|
|
|
NM_007194.4(CHEK2):c.1154G>C (p.Cys385Ser)
|
rs145324174
|
|
|
NM_007194.4(CHEK2):c.1156G>A (p.Gly386Arg)
|
rs1601722994
|
|
|
NM_007194.4(CHEK2):c.1157G>A (p.Gly386Glu)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1157G>C (p.Gly386Ala)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
|
NM_007194.4(CHEK2):c.1159A>T (p.Thr387Ser)
|
rs771387164
|
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
|
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1162C>G (p.Pro388Ala)
|
rs1555913811
|
|
|
NM_007194.4(CHEK2):c.1162C>T (p.Pro388Ser)
|
rs1555913811
|
|
|
NM_007194.4(CHEK2):c.1163C>G (p.Pro388Arg)
|
rs1601722891
|
|
|
NM_007194.4(CHEK2):c.1165A>G (p.Thr389Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile)
|
rs2145804544
|
|
|
NM_007194.4(CHEK2):c.1168T>A (p.Tyr390Asn)
|
rs2052558996
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.1169A>T (p.Tyr390Phe)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.116C>A (p.Ser39Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.1173G>A (p.Leu391=)
|
rs2145804298
|
|
|
NM_007194.4(CHEK2):c.1174G>A (p.Ala392Thr)
|
rs587782184
|
|
|
NM_007194.4(CHEK2):c.1175C>A (p.Ala392Glu)
|
rs373073383
|
|
|
NM_007194.4(CHEK2):c.1177C>T (p.Pro393Ser)
|
rs2052558087
|
|
|
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg)
|
rs730881690
|
|
|
NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp)
|
rs2052557170
|
|
|
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1184T>A (p.Val395Asp)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1184T>C (p.Val395Ala)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1184T>G (p.Val395Gly)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1189G>A (p.Val397Ile)
|
|
|
|
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly)
|
rs1601853229
|
|
|
NM_007194.4(CHEK2):c.118_119delinsCC (p.Ser40Pro)
|
rs1569171216
|
|
|
NM_007194.4(CHEK2):c.1192T>C (p.Ser398Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1193C>G (p.Ser398Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe)
|
rs876658682
|
|
|
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly)
|
rs527878975
|
|
|
NM_007194.4(CHEK2):c.1199G>A (p.Gly400Glu)
|
rs1476312560
|
|
|
NM_007194.4(CHEK2):c.119G>C (p.Ser40Thr)
|
rs1060502686
|
|
|
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser)
|
rs1601722432
|
|
|
NM_007194.4(CHEK2):c.1203T>A (p.Thr401=)
|
rs560781587
|
|
|
NM_007194.4(CHEK2):c.1204G>T (p.Ala402Ser)
|
rs758206293
|
|
|
NM_007194.4(CHEK2):c.1205C>G (p.Ala402Gly)
|
rs1175088679
|
|
|
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val)
|
rs1175088679
|
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
|
NM_007194.4(CHEK2):c.1207G>A (p.Gly403Arg)
|
rs1601722357
|
|
|
NM_007194.4(CHEK2):c.1207G>C (p.Gly403Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1207G>T (p.Gly403Trp)
|
|
|
|
NM_007194.4(CHEK2):c.1208G>A (p.Gly403Glu)
|
rs1435731482
|
|
|
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val)
|
rs1435731482
|
|
|
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)
|
rs1294840272
|
|
|
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn)
|
rs1555913715
|
|
|
NM_007194.4(CHEK2):c.1210T>C (p.Tyr404His)
|
rs1555913715
|
|
|
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)
|
rs1060502707
|
|
|
NM_007194.4(CHEK2):c.1213A>G (p.Asn405Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1213A>T (p.Asn405Tyr)
|
rs2145802765
|
|
|
NM_007194.4(CHEK2):c.1214A>T (p.Asn405Ile)
|
rs369070738
|
|
|
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1219G>A (p.Ala407Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1220C>T (p.Ala407Val)
|
rs876660527
|
|
|
NM_007194.4(CHEK2):c.1222G>A (p.Val408Met)
|
rs1555913700
|
|
|
NM_007194.4(CHEK2):c.1223T>C (p.Val408Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn)
|
rs766191039
|
|
|
NM_007194.4(CHEK2):c.1227C>A (p.Asp409Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1227C>G (p.Asp409Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del)
|
rs2052551741
|
|
|
NM_007194.4(CHEK2):c.1228T>C (p.Cys410Arg)
|
rs1555913689
|
|
|
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly)
|
rs1555913689
|
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
|
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1231T>C (p.Trp411Arg)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg)
|
rs2052550972
|
|
|
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn)
|
rs1555913662
|
|
|
NM_007194.4(CHEK2):c.1236T>G (p.Ser412Arg)
|
rs1601722002
|
|
|
NM_007194.4(CHEK2):c.1238T>C (p.Leu413Ser)
|
rs1248967885
|
|
|
NM_007194.4(CHEK2):c.1240G>A (p.Gly414Arg)
|
rs878854913
|
|
|
NM_007194.4(CHEK2):c.1241G>A (p.Gly414Glu)
|
rs1601721915
|
|
|
NM_007194.4(CHEK2):c.1241G>C (p.Gly414Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1241G>T (p.Gly414Val)
|
|
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
|
NM_007194.4(CHEK2):c.1243G>T (p.Val415Phe)
|
rs1601721900
|
|
|
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp)
|
rs748555394
|
|
|
NM_007194.4(CHEK2):c.1246A>C (p.Ile416Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1246A>T (p.Ile416Phe)
|
rs1601721850
|
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
|
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr)
|
rs1555913642
|
|
|
NM_007194.4(CHEK2):c.1249C>A (p.Leu417Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1249C>G (p.Leu417Val)
|
rs2052548069
|
|
|
NM_007194.4(CHEK2):c.1249C>T (p.Leu417Phe)
|
rs2052548069
|
|
|
NM_007194.4(CHEK2):c.124T>A (p.Ser42Thr)
|
rs1569171191
|
|
|
NM_007194.4(CHEK2):c.1250T>A (p.Leu417His)
|
|
|
|
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro)
|
rs1569113171
|
|
|
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu)
|
rs1064793737
|
|
|
NM_007194.4(CHEK2):c.1253T>C (p.Phe418Ser)
|
rs2052547427
|
|
|
NM_007194.4(CHEK2):c.1253T>G (p.Phe418Cys)
|
rs2052547427
|
|
|
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu)
|
rs774870353
|
|
|
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val)
|
rs1569113123
|
|
|
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr)
|
rs1601721712
|
|
|
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser)
|
rs1601721712
|
|
|
NM_007194.4(CHEK2):c.1258T>C (p.Cys420Arg)
|
rs2145800838
|
|
|
NM_007194.4(CHEK2):c.1259+19_1259+20insAAGAAATATTTTCATTGGGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_007194.4(CHEK2):c.1259+3A>C
|
rs768691252
|
|
|
NM_007194.4(CHEK2):c.1259+3A>T
|
|
|
|
NM_007194.4(CHEK2):c.1259+5G>A
|
rs1555913629
|
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
|
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe)
|
rs578218280
|
|
|
NM_007194.4(CHEK2):c.125C>G (p.Ser42Cys)
|
rs1483975421
|
|
|
NM_007194.4(CHEK2):c.1260-1G>T
|
rs786201906
|
|
|
NM_007194.4(CHEK2):c.1260-5T>C
|
rs2052526695
|
|
|
NM_007194.4(CHEK2):c.1260-5T>G
|
rs2052526695
|
|
|
NM_007194.4(CHEK2):c.1260C>G (p.Cys420Trp)
|
rs762205611
|
|
|
NM_007194.4(CHEK2):c.1260C>T (p.Cys420=)
|
|
|
|
NM_007194.4(CHEK2):c.1261C>T (p.Leu421Phe)
|
rs1060502699
|
|
|
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His)
|
rs1060502714
|
|
|
NM_007194.4(CHEK2):c.1262T>C (p.Leu421Pro)
|
rs1060502714
|
|
|
NM_007194.4(CHEK2):c.1264A>C (p.Ser422Arg)
|
rs2052525092
|
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
|
NM_007194.4(CHEK2):c.1266T>A (p.Ser422Arg)
|
rs1483964791
|
|
|
NM_007194.4(CHEK2):c.1266T>G (p.Ser422Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1267G>A (p.Gly423Arg)
|
rs730881691
|
|
|
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp)
|
rs730881691
|
|
|
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu)
|
rs1064793300
|
|
|
NM_007194.4(CHEK2):c.1268G>C (p.Gly423Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1268G>T (p.Gly423Val)
|
|
|
|
NM_007194.4(CHEK2):c.1271A>G (p.Tyr424Cys)
|
rs2145795779
|
|
|
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu)
|
rs1555913537
|
|
|
NM_007194.4(CHEK2):c.1276C>G (p.Pro426Ala)
|
rs1555913523
|
|
|
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)
|
rs1555913523
|
|
|
NM_007194.4(CHEK2):c.1277C>G (p.Pro426Arg)
|
rs769933461
|
|
|
NM_007194.4(CHEK2):c.1277C>T (p.Pro426Leu)
|
rs769933461
|
|
|
NM_007194.4(CHEK2):c.1279T>A (p.Phe427Ile)
|
rs2145795572
|
|
|
NM_007194.4(CHEK2):c.1279T>G (p.Phe427Val)
|
|
|
|
NM_007194.4(CHEK2):c.1280T>A (p.Phe427Tyr)
|
rs1601720056
|
|
|
NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser)
|
rs1601720056
|
|
|
NM_007194.4(CHEK2):c.1280T>G (p.Phe427Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys)
|
rs1064795041
|
|
|
NM_007194.4(CHEK2):c.1286A>G (p.Glu429Gly)
|
rs587782299
|
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
|
NM_007194.4(CHEK2):c.1289A>G (p.His430Arg)
|
|
|
|
NM_007194.4(CHEK2):c.128C>A (p.Thr43Asn)
|
rs2054327963
|
|
|
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met)
|
rs1555913504
|
|
|
NM_007194.4(CHEK2):c.1294A>C (p.Thr432Pro)
|
rs2145795088
|
|
|
NM_007194.4(CHEK2):c.1299_1300delinsGT (p.Val434Leu)
|
rs2145794938
|
|
|
NM_007194.4(CHEK2):c.12G>T (p.Glu4Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met)
|
rs876660323
|
|
|
NM_007194.4(CHEK2):c.1304C>T (p.Ser435Leu)
|
rs1555913484
|
|
|
NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met)
|
rs17882922
|
|
|
NM_007194.4(CHEK2):c.1306_1307delinsAC (p.Leu436Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg)
|
rs878854914
|
|
|
NM_007194.4(CHEK2):c.1312G>A (p.Asp438Asn)
|
rs200050883
|
|
|
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His)
|
rs200050883
|
|
|
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly)
|
rs1569112074
|
|
|
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val)
|
rs1569112074
|
|
|
NM_007194.4(CHEK2):c.1315C>A (p.Gln439Lys)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1316A>C (p.Gln439Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His)
|
rs878854915
|
|
|
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu)
|
rs587780176
|
|
|
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr)
|
rs1569171123
|
|
|
NM_007194.4(CHEK2):c.1321A>C (p.Thr441Pro)
|
rs876660046
|
|
|
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1325G>C (p.Ser442Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1325_1336del (p.Ser442_Tyr445del)
|
rs1601719464
|
|
|
NM_007194.4(CHEK2):c.1327G>A (p.Gly443Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1328G>A (p.Gly443Glu)
|
rs2145794064
|
|
|
NM_007194.4(CHEK2):c.1328G>T (p.Gly443Val)
|
|
|
|
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg)
|
rs1555913454
|
|
|
NM_007194.4(CHEK2):c.1334A>G (p.Tyr445Cys)
|
rs778246892
|
|
|
NM_007194.4(CHEK2):c.1337A>G (p.Asn446Ser)
|
rs2052517802
|
|
|
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu)
|
rs17881473
|
|
|
NM_007194.4(CHEK2):c.133A>G (p.Thr45Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)
|
rs876660373
|
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
|
NM_007194.4(CHEK2):c.1342_1356del (p.Ile448_Trp452del)
|
|
|
|
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr)
|
rs1555913437
|
|
|
NM_007194.4(CHEK2):c.1346C>T (p.Pro449Leu)
|
rs2145793532
|
|
|
NM_007194.4(CHEK2):c.1348G>C (p.Glu450Gln)
|
|
|
|
NM_007194.4(CHEK2):c.1349A>C (p.Glu450Ala)
|
rs2145793434
|
|
|
NM_007194.4(CHEK2):c.134C>G (p.Thr45Arg)
|
rs558321010
|
|
|
NM_007194.4(CHEK2):c.1350A>C (p.Glu450Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp)
|
rs139088611
|
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
|
NM_007194.4(CHEK2):c.1354T>G (p.Trp452Gly)
|
rs764449869
|
|
|
NM_007194.4(CHEK2):c.1361A>C (p.Glu454Ala)
|
rs1233346197
|
|
|
NM_007194.4(CHEK2):c.1363G>T (p.Val455Phe)
|
rs2052514206
|
|
|
NM_007194.4(CHEK2):c.1374A>C (p.Lys458Asn)
|
rs776093527
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+3insTTCA
|
|
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
|
NM_007194.4(CHEK2):c.1375G>A (p.Ala459Thr)
|
rs769729382
|
|
|
NM_007194.4(CHEK2):c.1375G>T (p.Ala459Ser)
|
rs769729382
|
|
|
NM_007194.4(CHEK2):c.1376C>T (p.Ala459Val)
|
|
|
|
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val)
|
rs876659512
|
|
|
NM_007194.4(CHEK2):c.1379T>C (p.Leu460Pro)
|
rs1569110510
|
|
|
NM_007194.4(CHEK2):c.1380G>A (p.Leu460=)
|
rs2145786561
|
|
|
NM_007194.4(CHEK2):c.1381G>A (p.Asp461Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1381G>C (p.Asp461His)
|
rs2052473783
|
|
|
NM_007194.4(CHEK2):c.1382A>C (p.Asp461Ala)
|
rs1555913188
|
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
|
NM_007194.4(CHEK2):c.1383C>A (p.Asp461Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1384C>G (p.Leu462Val)
|
rs751228409
|
|
|
NM_007194.4(CHEK2):c.1384C>T (p.Leu462Phe)
|
rs751228409
|
|
|
NM_007194.4(CHEK2):c.1385T>A (p.Leu462His)
|
rs2052473264
|
|
|
NM_007194.4(CHEK2):c.1385T>C (p.Leu462Pro)
|
rs2052473264
|
|
|
NM_007194.4(CHEK2):c.1385T>G (p.Leu462Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>A (p.Val463Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>C (p.Val463Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>T (p.Val463Phe)
|
rs1555913172
|
|
|
NM_007194.4(CHEK2):c.1388T>A (p.Val463Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1388T>C (p.Val463Ala)
|
|
|
|
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile)
|
rs876660873
|
|
|
NM_007194.4(CHEK2):c.1390AAG[1] (p.Lys465del)
|
rs2145786206
|
|
|
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)
|
rs764396738
|
|
|
NM_007194.4(CHEK2):c.1394A>G (p.Lys465Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1396T>G (p.Leu466Val)
|
rs1569110400
|
|
|
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)
|
rs876658456
|
|
|
NM_007194.4(CHEK2):c.13T>G (p.Ser5Ala)
|
rs1601854328
|
|
|
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1401G>C (p.Leu467Phe)
|
rs876658908
|
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
|
NM_007194.4(CHEK2):c.1404_1407delinsT (p.Val469del)
|
rs1569110334
|
|
|
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met)
|
rs730881692
|
|
|
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1406T>G (p.Val469Gly)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His)
|
rs876658449
|
|
|
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr)
|
rs876658449
|
|
|
NM_007194.4(CHEK2):c.1411C>A (p.Pro471Thr)
|
rs2052470634
|
|
|
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser)
|
rs2052470634
|
|
|
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)
|
rs1060502713
|
|
|
NM_007194.4(CHEK2):c.1414A>C (p.Lys472Gln)
|
rs2052470344
|
|
|
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu)
|
rs2052470344
|
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
|
NM_007194.4(CHEK2):c.1417G>A (p.Ala473Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
|
NM_007194.4(CHEK2):c.1418C>G (p.Ala473Gly)
|
rs1060502685
|
|
|
NM_007194.4(CHEK2):c.1418C>T (p.Ala473Val)
|
rs1060502685
|
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
|
NM_007194.4(CHEK2):c.1420C>G (p.Arg474Gly)
|
rs540635787
|
|
|
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)
|
rs121908706
|
|
|
NM_007194.4(CHEK2):c.1426A>C (p.Thr476Pro)
|
rs2052468962
|
|
|
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)
|
rs142763740
|
|
|
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg)
|
rs142763740
|
|
|
NM_007194.4(CHEK2):c.1430C>G (p.Thr477Arg)
|
rs762488591
|
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
|
NM_007194.4(CHEK2):c.1433A>T (p.Glu478Val)
|
rs2052468103
|
|
|
NM_007194.4(CHEK2):c.1433AAG[1] (p.Glu479del)
|
rs1555913104
|
|
|
NM_007194.4(CHEK2):c.1436A>G (p.Glu479Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1436A>T (p.Glu479Val)
|
rs1464731405
|
|
|
NM_007194.4(CHEK2):c.1437A>C (p.Glu479Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1439C>G (p.Ala480Gly)
|
rs786203303
|
|
|
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val)
|
rs786203303
|
|
|
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys)
|
rs1555913090
|
|
|
NM_007194.4(CHEK2):c.1447C>A (p.His483Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
|
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln)
|
rs1555913081
|
|
|
NM_007194.4(CHEK2):c.1450C>G (p.Pro484Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser)
|
rs548850521
|
|
|
NM_007194.4(CHEK2):c.1451C>G (p.Pro484Arg)
|
rs564605612
|
|
|
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg)
|
rs786202244
|
|
|
NM_007194.4(CHEK2):c.1453T>C (p.Trp485Arg)
|
rs786202244
|
|
|
NM_007194.4(CHEK2):c.1453T>G (p.Trp485Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1454G>C (p.Trp485Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1457T>C (p.Leu486Pro)
|
rs1569109928
|
|
|
NM_007194.4(CHEK2):c.1457T>G (p.Leu486Arg)
|
|
|
|
NM_007194.4(CHEK2):c.145T>C (p.Ser49Pro)
|
rs756991701
|
|
|
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg)
|
rs1601715793
|
|
|
NM_007194.4(CHEK2):c.1461+2301G>T
|
|
|
|
NM_007194.4(CHEK2):c.1461+3G>C
|
rs1555913067
|
|
|
NM_007194.4(CHEK2):c.1461+4G>C
|
rs1057522400
|
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+5G>C
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+6T>A
|
rs1064795915
|
|
|
NM_007194.4(CHEK2):c.1461+6T>C
|
rs1064795915
|
|
|
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=)
|
rs1060502701
|
|
|
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His)
|
rs1060502701
|
|
|
NM_007194.4(CHEK2):c.1462-1_1542+2del
|
rs2145747944
|
|
|
NM_007194.4(CHEK2):c.1462-3C>G
|
rs876658673
|
|
|
NM_007194.4(CHEK2):c.1462-3C>T
|
rs876658673
|
|
|
NM_007194.4(CHEK2):c.1462G>C (p.Asp488His)
|
rs886041173
|
|
|
NM_007194.4(CHEK2):c.1462G>T (p.Asp488Tyr)
|
rs886041173
|
|
|
NM_007194.4(CHEK2):c.1463A>T (p.Asp488Val)
|
|
|
|
NM_007194.4(CHEK2):c.1464T>G (p.Asp488Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1465G>A (p.Glu489Lys)
|
|
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
|
NM_007194.4(CHEK2):c.1471A>C (p.Met491Leu)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1471A>G (p.Met491Val)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1472T>A (p.Met491Lys)
|
rs1601702472
|
|
|
NM_007194.4(CHEK2):c.1472T>G (p.Met491Arg)
|
rs1601702472
|
|
|
NM_007194.4(CHEK2):c.1475A>C (p.Lys492Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1475A>G (p.Lys492Arg)
|
rs2145750566
|
|
|
NM_007194.4(CHEK2):c.1477A>G (p.Arg493Gly)
|
rs1601702436
|
|
|
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr)
|
rs1569104499
|
|
|
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser)
|
rs1601702414
|
|
|
NM_007194.4(CHEK2):c.1481A>G (p.Lys494Arg)
|
rs1601702380
|
|
|
NM_007194.4(CHEK2):c.1481A>T (p.Lys494Met)
|
rs1601702380
|
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
|
NM_007194.4(CHEK2):c.1486C>A (p.Gln496Lys)
|
rs756250205
|
|
|
NM_007194.4(CHEK2):c.1486C>G (p.Gln496Glu)
|
rs756250205
|
|
|
NM_007194.4(CHEK2):c.1487A>C (p.Gln496Pro)
|
rs2145750109
|
|
|
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg)
|
rs1569171013
|
|
|
NM_007194.4(CHEK2):c.1490A>G (p.Asp497Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
|
NM_007194.4(CHEK2):c.1491TCT[1] (p.Leu499del)
|
rs1555912044
|
|
|
NM_007194.4(CHEK2):c.1492C>G (p.Leu498Val)
|
|
|
|
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe)
|
rs2052245756
|
|
|
NM_007194.4(CHEK2):c.1493T>C (p.Leu498Pro)
|
rs2052245637
|
|
|
NM_007194.4(CHEK2):c.1495C>A (p.Leu499Met)
|
rs2145749845
|
|
|
NM_007194.4(CHEK2):c.1496T>C (p.Leu499Pro)
|
rs761750423
|
|
|
NM_007194.4(CHEK2):c.1498T>A (p.Ser500Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1499C>G (p.Ser500Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1502A>G (p.Glu501Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1504G>A (p.Glu502Lys)
|
rs1601702068
|
|
|
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly)
|
rs1060502682
|
|
|
NM_007194.4(CHEK2):c.1507A>G (p.Asn503Asp)
|
rs2052243352
|
|
|
NM_007194.4(CHEK2):c.1508A>C (p.Asn503Thr)
|
rs1555912017
|
|
|
NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser)
|
rs1555912017
|
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.1513T>G (p.Ser505Ala)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.1516A>C (p.Thr506Pro)
|
rs1555912010
|
|
|
NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala)
|
rs1555912010
|
|
|
NM_007194.4(CHEK2):c.1517C>G (p.Thr506Arg)
|
rs1398732281
|
|
|
NM_007194.4(CHEK2):c.1517C>T (p.Thr506Ile)
|
rs1398732281
|
|
|
NM_007194.4(CHEK2):c.151C>A (p.Gln51Lys)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.151C>G (p.Gln51Glu)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro)
|
rs1338238773
|
|
|
NM_007194.4(CHEK2):c.1529A>G (p.Gln510Arg)
|
rs1601701772
|
|
|
NM_007194.4(CHEK2):c.152A>C (p.Gln51Pro)
|
rs2054325722
|
|
|
NM_007194.4(CHEK2):c.152A>G (p.Gln51Arg)
|
rs2054325722
|
|
|
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)
|
rs1569104011
|
|
|
NM_007194.4(CHEK2):c.1531G>A (p.Val511Ile)
|
rs1601701749
|
|
|
NM_007194.4(CHEK2):c.1531G>T (p.Val511Phe)
|
|
|
|
NM_007194.4(CHEK2):c.1537G>A (p.Ala513Thr)
|
rs2052240121
|
|
|
NM_007194.4(CHEK2):c.1537G>T (p.Ala513Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_007194.4(CHEK2):c.1542+16A>G
|
rs749728970
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
|
NM_007194.4(CHEK2):c.1542+6C>G
|
rs1414780425
|
|
|
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His)
|
rs747797219
|
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
|
NM_007194.4(CHEK2):c.1543-3C>G
|
rs759366945
|
|
|
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr)
|
rs1399879170
|
|
|
NM_007194.4(CHEK2):c.1544C>T (p.Pro515Leu)
|
rs2052189910
|
|
|
NM_007194.4(CHEK2):c.1546T>C (p.Ser516Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1547C>T (p.Ser516Phe)
|
rs1601698243
|
|
|
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del)
|
rs1555911626
|
|
|
NM_007194.4(CHEK2):c.1548_1565del (p.Thr517_Pro522del)
|
rs2052186431
|
|
|
NM_007194.4(CHEK2):c.1549A>G (p.Thr517Ala)
|
rs1555911631
|
|
|
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser)
|
rs1555911631
|
|
|
NM_007194.4(CHEK2):c.154T>A (p.Ser52Thr)
|
rs2054325597
|
|
|
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile)
|
rs1555911629
|
|
|
NM_007194.4(CHEK2):c.1551T>C (p.Thr517=)
|
|
|
|
NM_007194.4(CHEK2):c.1552A>C (p.Ser518Arg)
|
rs753560465
|
|
|
NM_007194.4(CHEK2):c.1553G>A (p.Ser518Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1555C>G (p.Arg519Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
|
NM_007194.4(CHEK2):c.1558A>C (p.Lys520Gln)
|
rs1555911613
|
|
|
NM_007194.4(CHEK2):c.1558A>G (p.Lys520Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1559del (p.Lys520fs)
|
rs2145739112
|
|
|
NM_007194.4(CHEK2):c.1559dup (p.Arg521fs)
|
|
|
|
NM_007194.4(CHEK2):c.155C>A (p.Ser52Tyr)
|
rs778214603
|
|
|
NM_007194.4(CHEK2):c.1560G>C (p.Lys520Asn)
|
rs1601698058
|
|
|
NM_007194.4(CHEK2):c.1561C>G (p.Arg521Gly)
|
rs533475838
|
|
|
NM_007194.4(CHEK2):c.1561del (p.Arg521fs)
|
rs2052187374
|
|
|
NM_007194.4(CHEK2):c.1562G>T (p.Arg521Leu)
|
rs373959274
|
|
|
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)
|
rs786202339
|
|
|
NM_007194.4(CHEK2):c.1563dup (p.Pro522fs)
|
|
|
|
NM_007194.4(CHEK2):c.1564C>G (p.Pro522Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1564C>T (p.Pro522Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1565C>A (p.Pro522His)
|
|
|
|
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser)
|
rs149501505
|
|
|
NM_007194.4(CHEK2):c.1567C>G (p.Arg523Gly)
|
rs149501505
|
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
|
NM_007194.4(CHEK2):c.1567dup (p.Arg523fs)
|
rs587782684
|
|
|
NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu)
|
rs948928965
|
|
|
NM_007194.4(CHEK2):c.1569_1582dup (p.Glu528fs)
|
rs2145738171
|
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
|
NM_007194.4(CHEK2):c.1572del (p.Glu526fs)
|
rs2052185743
|
|
|
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg)
|
rs780512032
|
|
|
NM_007194.4(CHEK2):c.1574G>A (p.Gly525Glu)
|
rs1212728170
|
|
|
NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys)
|
rs1555911587
|
|
|
NM_007194.4(CHEK2):c.1576G>T (p.Glu526Ter)
|
rs1555911587
|
|
|
NM_007194.4(CHEK2):c.1576_1577delinsAG (p.Glu526Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1576_1586del (p.Glu526fs)
|
|
|
|
NM_007194.4(CHEK2):c.1576del (p.Glu526fs)
|
|
|
|
NM_007194.4(CHEK2):c.1577A>C (p.Glu526Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1578_1581del (p.Ala527fs)
|
|
|
|
NM_007194.4(CHEK2):c.1579G>T (p.Ala527Ser)
|
rs1555911583
|
|
|
NM_007194.4(CHEK2):c.157T>G (p.Ser53Ala)
|
rs371657037
|
|
|
NM_007194.4(CHEK2):c.1580C>T (p.Ala527Val)
|
rs1601697744
|
|
|
NM_007194.4(CHEK2):c.1581del (p.Glu528fs)
|
rs2145738231
|
|
|
NM_007194.4(CHEK2):c.1582G>C (p.Glu528Gln)
|
rs138040612
|
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
|
NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs)
|
rs2145737506
|
|
|
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
|
|
NM_007194.4(CHEK2):c.158C>T (p.Ser53Phe)
|
rs753204096
|
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly)
|
rs1569102183
|
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
|
NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg)
|
rs1569102119
|
|
|
NM_007194.4(CHEK2):c.1598C>T (p.Thr533Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln)
|
rs1555911558
|
|
|
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu)
|
rs1555911558
|
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
|
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)
|
rs1601697447
|
|
|
NM_007194.4(CHEK2):c.1607del (p.Pro536fs)
|
rs1555911551
|
|
|
NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp)
|
rs1064795821
|
|
|
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)
|
rs1064795821
|
|
|
NM_007194.4(CHEK2):c.1610del (p.Ala537fs)
|
|
|
|
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met)
|
rs1064794950
|
|
|
NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu)
|
rs1064794950
|
|
|
NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr)
|
rs1569101993
|
|
|
NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe)
|
rs1569101993
|
|
|
NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)
|
rs1569101939
|
|
|
NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr)
|
rs767414081
|
|
|
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)
|
rs767414081
|
|
|
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val)
|
rs1569101970
|
|
|
NM_007194.4(CHEK2):c.1624G>A (p.Val542Met)
|
|
|
|
NM_007194.4(CHEK2):c.1625T>C (p.Val542Ala)
|
rs2145736771
|
|
|
NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val)
|
rs2052179967
|
|
|
NM_007194.4(CHEK2):c.1628T>A (p.Leu543Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1628T>C (p.Leu543Ser)
|
rs2145736622
|
|
|
NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg)
|
rs2052179845
|
|
|
NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly)
|
rs2052179845
|
|
|
NM_007194.4(CHEK2):c.1632A>T (p.Ter544Cys)
|
|
|
|
NM_007194.4(CHEK2):c.163T>G (p.Ser55Ala)
|
rs1555932427
|
|
|
NM_007194.4(CHEK2):c.164C>G (p.Ser55Cys)
|
rs765799649
|
|
|
NM_007194.4(CHEK2):c.166A>G (p.Ser56Gly)
|
rs1555932413
|
|
|
NM_007194.4(CHEK2):c.167G>C (p.Ser56Thr)
|
rs1255827598
|
|
|
NM_007194.4(CHEK2):c.169T>G (p.Ser57Ala)
|
|
|
|
NM_007194.4(CHEK2):c.16G>C (p.Asp6His)
|
rs1555932944
|
|
|
NM_007194.4(CHEK2):c.170C>A (p.Ser57Tyr)
|
rs730881695
|
|
|
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys)
|
rs730881695
|
|
|
NM_007194.4(CHEK2):c.175A>G (p.Thr59Ala)
|
|
|
|
NM_007194.4(CHEK2):c.176C>T (p.Thr59Ile)
|
rs149991239
|
|
|
NM_007194.4(CHEK2):c.17A>C (p.Asp6Ala)
|
|
|
|
NM_007194.4(CHEK2):c.181A>C (p.Ser61Arg)
|
rs766499735
|
|
|
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly)
|
rs766499735
|
|
|
NM_007194.4(CHEK2):c.182G>A (p.Ser61Asn)
|
rs1569170658
|
|
|
NM_007194.4(CHEK2):c.182G>T (p.Ser61Ile)
|
rs1569170658
|
|
|
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg)
|
rs2054322201
|
|
|
NM_007194.4(CHEK2):c.184T>C (p.Ser62Pro)
|
rs2146148379
|
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
|
NM_007194.4(CHEK2):c.187T>G (p.Leu63Val)
|
|
|
|
NM_007194.4(CHEK2):c.188T>C (p.Leu63Ser)
|
rs878854916
|
|
|
NM_007194.4(CHEK2):c.191A>G (p.Glu64Gly)
|
rs1601852334
|
|
|
NM_007194.4(CHEK2):c.191A>T (p.Glu64Val)
|
|
|
|
NM_007194.4(CHEK2):c.193A>G (p.Thr65Ala)
|
rs1308200351
|
|
|
NM_007194.4(CHEK2):c.193A>T (p.Thr65Ser)
|
rs1308200351
|
|
|
NM_007194.4(CHEK2):c.196G>A (p.Val66Met)
|
rs730881696
|
|
|
NM_007194.4(CHEK2):c.196G>T (p.Val66Leu)
|
|
|
|
NM_007194.4(CHEK2):c.197T>C (p.Val66Ala)
|
rs2054320721
|
|
|
NM_007194.4(CHEK2):c.199T>G (p.Ser67Ala)
|
rs1601852238
|
|
|
NM_007194.4(CHEK2):c.19G>A (p.Val7Ile)
|
rs1601854266
|
|
|
NM_007194.4(CHEK2):c.1A>C (p.Met1Leu)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe)
|
rs886041171
|
|
|
NM_007194.4(CHEK2):c.202A>G (p.Thr68Ala)
|
|
|
|
NM_007194.4(CHEK2):c.203C>T (p.Thr68Ile)
|
|
|
|
NM_007194.4(CHEK2):c.205C>A (p.Gln69Lys)
|
|
|
|
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg)
|
rs876661109
|
|
|
NM_007194.4(CHEK2):c.206A>T (p.Gln69Leu)
|
rs876661109
|
|
|
NM_007194.4(CHEK2):c.207G>C (p.Gln69His)
|
rs762760523
|
|
|
NM_007194.4(CHEK2):c.209A>G (p.Glu70Gly)
|
|
|
|
NM_007194.4(CHEK2):c.211C>T (p.Leu71Phe)
|
rs2054319509
|
|
|
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser)
|
rs769819013
|
|
|
NM_007194.4(CHEK2):c.217T>C (p.Ser73Pro)
|
rs2054319079
|
|
|
NM_007194.4(CHEK2):c.218C>G (p.Ser73Cys)
|
rs2054318997
|
|
|
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys)
|
rs1601852018
|
|
|
NM_007194.4(CHEK2):c.226G>C (p.Glu76Gln)
|
rs1601852018
|
|
|
NM_007194.4(CHEK2):c.229G>A (p.Asp77Asn)
|
rs2146146789
|
|
|
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val)
|
rs1555932352
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.233A>G (p.Gln78Arg)
|
|
|
|
NM_007194.4(CHEK2):c.238C>T (p.Pro80Ser)
|
rs745355600
|
|
|
NM_007194.4(CHEK2):c.239C>A (p.Pro80His)
|
rs876659006
|
|
|
NM_007194.4(CHEK2):c.246C>A (p.Asp82Glu)
|
|
|
|
NM_007194.4(CHEK2):c.24G>C (p.Glu8Asp)
|
rs780920036
|
|
|
NM_007194.4(CHEK2):c.253C>A (p.Pro85Thr)
|
rs1366081066
|
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys)
|
rs551930027
|
|
|
NM_007194.4(CHEK2):c.258G>T (p.Glu86Asp)
|
rs1201436179
|
|
|
NM_007194.4(CHEK2):c.259G>A (p.Glu87Lys)
|
|
|
|
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr)
|
rs757530141
|
|
|
NM_007194.4(CHEK2):c.265A>C (p.Thr89Pro)
|
|
|
|
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del)
|
rs1064793085
|
|
|
NM_007194.4(CHEK2):c.266C>A (p.Thr89Asn)
|
rs1601851716
|
|
|
NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile)
|
rs1601851716
|
|
|
NM_007194.4(CHEK2):c.268C>A (p.Pro90Thr)
|
rs777588170
|
|
|
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)
|
rs777588170
|
|
|
NM_007194.4(CHEK2):c.269C>G (p.Pro90Arg)
|
|
|
|
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly)
|
rs1456931393
|
|
|
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val)
|
rs1456931393
|
|
|
NM_007194.4(CHEK2):c.271G>C (p.Ala91Pro)
|
rs2146145205
|
|
|
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp)
|
rs748559775
|
|
|
NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)
|
rs748559775
|
|
|
NM_007194.4(CHEK2):c.274C>A (p.Pro92Thr)
|
rs1555932172
|
|
|
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser)
|
rs1555932172
|
|
|
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg)
|
rs779269031
|
|
|
NM_007194.4(CHEK2):c.277T>A (p.Trp93Arg)
|
rs730881697
|
|
|
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg)
|
rs730881697
|
|
|
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser)
|
rs786203889
|
|
|
NM_007194.4(CHEK2):c.279G>C (p.Trp93Cys)
|
|
|
|
NM_007194.4(CHEK2):c.279G>T (p.Trp93Cys)
|
rs587782070
|
|
|
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro)
|
rs753860983
|
|
|
NM_007194.4(CHEK2):c.281C>T (p.Ala94Val)
|
rs2054313946
|
|
|
NM_007194.4(CHEK2):c.283C>G (p.Arg95Gly)
|
rs587781269
|
|
|
NM_007194.4(CHEK2):c.283_288del (p.Arg95_Leu96del)
|
rs2146144505
|
|
|
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.284G>T (p.Arg95Leu)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.288A>T (p.Leu96Phe)
|
rs767758092
|
|
|
NM_007194.4(CHEK2):c.289T>C (p.Trp97Arg)
|
rs2054312729
|
|
|
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val)
|
rs1601851270
|
|
|
NM_007194.4(CHEK2):c.296T>A (p.Leu99His)
|
rs786201193
|
|
|
NM_007194.4(CHEK2):c.296T>G (p.Leu99Arg)
|
rs786201193
|
|
|
NM_007194.4(CHEK2):c.299A>G (p.Gln100Arg)
|
rs1601851194
|
|
|
NM_007194.4(CHEK2):c.299A>T (p.Gln100Leu)
|
|
|
|
NM_007194.4(CHEK2):c.29A>C (p.Gln10Pro)
|
|
|
|
NM_007194.4(CHEK2):c.29A>T (p.Gln10Leu)
|
rs2146156178
|
|
|
NM_007194.4(CHEK2):c.2T>A (p.Met1Lys)
|
|
|
|
NM_007194.4(CHEK2):c.301G>C (p.Asp101His)
|
|
|
|
NM_007194.4(CHEK2):c.301G>T (p.Asp101Tyr)
|
rs786203283
|
|
|
NM_007194.4(CHEK2):c.302A>G (p.Asp101Gly)
|
rs1569169879
|
|
|
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu)
|
rs1569169871
|
|
|
NM_007194.4(CHEK2):c.304G>A (p.Gly102Arg)
|
rs876659833
|
|
|
NM_007194.4(CHEK2):c.305G>C (p.Gly102Ala)
|
rs1555932082
|
|
|
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val)
|
rs1555932082
|
|
|
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)
|
rs876658140
|
|
|
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro)
|
rs1601851066
|
|
|
NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser)
|
rs1601851066
|
|
|
NM_007194.4(CHEK2):c.313A>C (p.Asn105His)
|
rs1010061908
|
|
|
NM_007194.4(CHEK2):c.315T>G (p.Asn105Lys)
|
rs1555932027
|
|
|
NM_007194.4(CHEK2):c.316C>G (p.Leu106Val)
|
rs1060502691
|
|
|
NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro)
|
rs1601850987
|
|
|
NM_007194.4(CHEK2):c.317T>G (p.Leu106Arg)
|
rs1601850987
|
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
|
NM_007194.4(CHEK2):c.319+3A>T
|
rs1569169765
|
|
|
NM_007194.4(CHEK2):c.319+4A>G
|
|
|
|
NM_007194.4(CHEK2):c.319+5G>T
|
rs730881698
|
|
|
NM_007194.4(CHEK2):c.319G>C (p.Glu107Gln)
|
|
|
|
NM_007194.4(CHEK2):c.31C>G (p.Gln11Glu)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.320-3C>A
|
rs863224749
|
|
|
NM_007194.4(CHEK2):c.320-3C>G
|
rs863224749
|
|
|
NM_007194.4(CHEK2):c.320-3C>T
|
|
|
|
NM_007194.4(CHEK2):c.320-?_*(1_?)dup
|
|
|
|
NM_007194.4(CHEK2):c.320A>G (p.Glu107Gly)
|
rs1569159156
|
|
|
NM_007194.4(CHEK2):c.320A>T (p.Glu107Val)
|
|
|
|
NM_007194.4(CHEK2):c.321A>T (p.Glu107Asp)
|
|
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
|
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr)
|
rs1555927408
|
|
|
NM_007194.4(CHEK2):c.323G>C (p.Cys108Ser)
|
|
|
|
NM_007194.4(CHEK2):c.325G>A (p.Val109Met)
|
rs1569159114
|
|
|
NM_007194.4(CHEK2):c.325G>C (p.Val109Leu)
|
rs1569159114
|
|
|
NM_007194.4(CHEK2):c.328A>C (p.Asn110His)
|
|
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
|
NM_007194.4(CHEK2):c.329A>C (p.Asn110Thr)
|
rs1060502700
|
|
|
NM_007194.4(CHEK2):c.329A>G (p.Asn110Ser)
|
rs1060502700
|
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
|
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr)
|
rs1569159072
|
|
|
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly)
|
rs2053966685
|
|
|
NM_007194.4(CHEK2):c.334_336del (p.Asn112del)
|
rs1569159061
|
|
|
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys)
|
rs1060502689
|
|
|
NM_007194.4(CHEK2):c.337T>C (p.Tyr113His)
|
rs1601826109
|
|
|
NM_007194.4(CHEK2):c.338A>C (p.Tyr113Ser)
|
rs770343235
|
|
|
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys)
|
rs770343235
|
|
|
NM_007194.4(CHEK2):c.338A>T (p.Tyr113Phe)
|
|
|
|
NM_007194.4(CHEK2):c.33G>C (p.Gln11His)
|
|
|
|
NM_007194.4(CHEK2):c.340T>C (p.Trp114Arg)
|
rs1555927378
|
|
|
NM_007194.4(CHEK2):c.340T>G (p.Trp114Gly)
|
rs1555927378
|
|
|
NM_007194.4(CHEK2):c.341G>T (p.Trp114Leu)
|
rs1555927374
|
|
|
NM_007194.4(CHEK2):c.342G>C (p.Trp114Cys)
|
rs756949505
|
|
|
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys)
|
rs756949505
|
|
|
NM_007194.4(CHEK2):c.343T>A (p.Phe115Ile)
|
rs1060502695
|
|
|
NM_007194.4(CHEK2):c.343T>G (p.Phe115Val)
|
rs1060502695
|
|
|
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser)
|
rs1060502706
|
|
|
NM_007194.4(CHEK2):c.344T>G (p.Phe115Cys)
|
rs1060502706
|
|
|
NM_007194.4(CHEK2):c.347G>A (p.Gly116Glu)
|
rs745943179
|
|
|
NM_007194.4(CHEK2):c.349A>T (p.Arg117Trp)
|
|
|
|
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met)
|
rs587781982
|
|
|
NM_007194.4(CHEK2):c.352G>A (p.Asp118Asn)
|
rs2053964532
|
|
|
NM_007194.4(CHEK2):c.352G>T (p.Asp118Tyr)
|
rs2053964532
|
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
|
NM_007194.4(CHEK2):c.353A>T (p.Asp118Val)
|
|
|
|
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu)
|
rs757340619
|
|
|
NM_007194.4(CHEK2):c.355A>C (p.Lys119Gln)
|
rs2053964255
|
|
|
NM_007194.4(CHEK2):c.355A>G (p.Lys119Glu)
|
rs2053964255
|
|
|
NM_007194.4(CHEK2):c.358A>C (p.Ser120Arg)
|
rs1601825853
|
|
|
NM_007194.4(CHEK2):c.359_373del (p.Ser120_Phe125delinsIle)
|
|
|
|
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys)
|
rs1166395498
|
|
|
NM_007194.4(CHEK2):c.361T>C (p.Cys121Arg)
|
rs1356801901
|
|
|
NM_007194.4(CHEK2):c.362G>A (p.Cys121Tyr)
|
rs777887044
|
|
|
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe)
|
rs777887044
|
|
|
NM_007194.4(CHEK2):c.364G>C (p.Glu122Gln)
|
|
|
|
NM_007194.4(CHEK2):c.365A>G (p.Glu122Gly)
|
|
|
|
NM_007194.4(CHEK2):c.367T>A (p.Tyr123Asn)
|
|
|
|
NM_007194.4(CHEK2):c.368_382del (p.Tyr123_Pro128delinsSer)
|
rs2146069470
|
|
|
NM_007194.4(CHEK2):c.370T>C (p.Cys124Arg)
|
rs2053962902
|
|
|
NM_007194.4(CHEK2):c.371G>C (p.Cys124Ser)
|
rs754768271
|
|
|
NM_007194.4(CHEK2):c.372C>G (p.Cys124Trp)
|
rs1555927291
|
|
|
NM_007194.4(CHEK2):c.374T>C (p.Phe125Ser)
|
rs1064794677
|
|
|
NM_007194.4(CHEK2):c.375T>A (p.Phe125Leu)
|
|
|
|
NM_007194.4(CHEK2):c.376G>C (p.Asp126His)
|
|
|
|
NM_007194.4(CHEK2):c.376G>T (p.Asp126Tyr)
|
rs1192210146
|
|
|
NM_007194.4(CHEK2):c.377A>C (p.Asp126Ala)
|
|
|
|
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly)
|
rs864622541
|
|
|
NM_007194.4(CHEK2):c.37C>A (p.His13Asn)
|
rs1601854066
|
|
|
NM_007194.4(CHEK2):c.382C>A (p.Pro128Thr)
|
rs1555927281
|
|
|
NM_007194.4(CHEK2):c.382_383delinsTT (p.Pro128Leu)
|
rs2053961832
|
|
|
NM_007194.4(CHEK2):c.386T>C (p.Leu129Pro)
|
rs1555927266
|
|
|
NM_007194.4(CHEK2):c.389T>A (p.Leu130Gln)
|
|
|
|
NM_007194.4(CHEK2):c.389T>C (p.Leu130Pro)
|
rs150677496
|
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
|
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg)
|
rs1569158689
|
|
|
NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys)
|
rs750393263
|
|
|
NM_007194.4(CHEK2):c.395G>T (p.Arg132Ile)
|
rs750393263
|
|
|
NM_007194.4(CHEK2):c.396A>T (p.Arg132Ser)
|
|
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
|
NM_007194.4(CHEK2):c.398C>G (p.Thr133Arg)
|
|
|
|
NM_007194.4(CHEK2):c.398C>T (p.Thr133Ile)
|
rs1346472987
|
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
|
NM_007194.4(CHEK2):c.3G>T (p.Met1Ile)
|
rs786203977
|
|
|
NM_007194.4(CHEK2):c.400G>A (p.Asp134Asn)
|
|
|
|
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)
|
rs1404473412
|
|
|
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val)
|
rs1404473412
|
|
|
NM_007194.4(CHEK2):c.402_407del (p.Lys135_Tyr136del)
|
rs2053959611
|
|
|
NM_007194.4(CHEK2):c.403A>G (p.Lys135Glu)
|
rs1601825425
|
|
|
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His)
|
rs1555927222
|
|
|
NM_007194.4(CHEK2):c.406T>G (p.Tyr136Asp)
|
rs1555927222
|
|
|
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys)
|
rs1569158606
|
|
|
NM_007194.4(CHEK2):c.409C>G (p.Arg137Gly)
|
rs730881701
|
|
|
NM_007194.4(CHEK2):c.409_410delinsTC (p.Arg137Ser)
|
rs876658143
|
|
|
NM_007194.4(CHEK2):c.409_417del (p.Arg137_Tyr139del)
|
rs786203325
|
|
|
NM_007194.4(CHEK2):c.40G>A (p.Gly14Ser)
|
rs1601854043
|
|
|
NM_007194.4(CHEK2):c.410G>C (p.Arg137Pro)
|
|
|
|
NM_007194.4(CHEK2):c.410G>T (p.Arg137Leu)
|
rs368570187
|
|
|
NM_007194.4(CHEK2):c.412A>G (p.Thr138Ala)
|
rs1555927202
|
|
|
NM_007194.4(CHEK2):c.413C>A (p.Thr138Lys)
|
|
|
|
NM_007194.4(CHEK2):c.413C>T (p.Thr138Ile)
|
rs1555927196
|
|
|
NM_007194.4(CHEK2):c.415T>A (p.Tyr139Asn)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415_417del (p.Tyr139del)
|
|
|
|
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys)
|
rs587780182
|
|
|
NM_007194.4(CHEK2):c.416A>T (p.Tyr139Phe)
|
|
|
|
NM_007194.4(CHEK2):c.418A>G (p.Ser140Gly)
|
rs1601825241
|
|
|
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)
|
rs768234137
|
|
|
NM_007194.4(CHEK2):c.419G>C (p.Ser140Thr)
|
rs768234137
|
|
|
NM_007194.4(CHEK2):c.41G>T (p.Gly14Val)
|
rs1601854035
|
|
|
NM_007194.4(CHEK2):c.420C>G (p.Ser140Arg)
|
rs1601825215
|
|
|
NM_007194.4(CHEK2):c.420C>T (p.Ser140=)
|
rs1601825215
|
|
|
NM_007194.4(CHEK2):c.421A>C (p.Lys141Gln)
|
rs2146067437
|
|
|
NM_007194.4(CHEK2):c.421A>G (p.Lys141Glu)
|
rs2146067437
|
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
|
NM_007194.4(CHEK2):c.424A>G (p.Lys142Glu)
|
rs2146067261
|
|
|
NM_007194.4(CHEK2):c.425A>G (p.Lys142Arg)
|
|
|
|
NM_007194.4(CHEK2):c.428A>T (p.His143Leu)
|
rs587782300
|
|
|
NM_007194.4(CHEK2):c.429C>A (p.His143Gln)
|
rs1555927151
|
|
|
NM_007194.4(CHEK2):c.429C>G (p.His143Gln)
|
rs1555927151
|
|
|
NM_007194.4(CHEK2):c.430T>C (p.Phe144Leu)
|
rs1569158415
|
|
|
NM_007194.4(CHEK2):c.431T>A (p.Phe144Tyr)
|
rs2053956853
|
|
|
NM_007194.4(CHEK2):c.431T>G (p.Phe144Cys)
|
rs2053956853
|
|
|
NM_007194.4(CHEK2):c.432T>A (p.Phe144Leu)
|
rs876658374
|
|
|
NM_007194.4(CHEK2):c.432T>G (p.Phe144Leu)
|
rs876658374
|
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
|
NM_007194.4(CHEK2):c.436A>G (p.Ile146Val)
|
rs781678896
|
|
|
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe)
|
rs781678896
|
|
|
NM_007194.4(CHEK2):c.437T>G (p.Ile146Ser)
|
|
|
|
NM_007194.4(CHEK2):c.438_592+3del
|
rs2146056182
|
|
|
NM_007194.4(CHEK2):c.441C>G (p.Phe147Leu)
|
|
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
|
NM_007194.4(CHEK2):c.443G>A (p.Arg148Lys)
|
rs142966756
|
|
|
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr)
|
rs142966756
|
|
|
NM_007194.4(CHEK2):c.444+19T>G
|
|
|
|
NM_007194.4(CHEK2):c.444+3A>C
|
rs587781279
|
|
|
NM_007194.4(CHEK2):c.444+4_444+11del
|
|
|
|
NM_007194.4(CHEK2):c.444+4dup
|
rs2053955000
|
|
|
NM_007194.4(CHEK2):c.444+5G>C
|
rs189961251
|
|
|
NM_007194.4(CHEK2):c.444G>A (p.Arg148=)
|
rs1298109942
|
|
|
NM_007194.4(CHEK2):c.445-5T>C
|
rs1555927050
|
|
|
NM_007194.4(CHEK2):c.445-5T>G
|
rs1555927050
|
|
|
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys)
|
rs587782560
|
|
|
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln)
|
rs587782560
|
|
|
NM_007194.4(CHEK2):c.447A>G (p.Glu149=)
|
rs2146062204
|
|
|
NM_007194.4(CHEK2):c.448G>T (p.Val150Leu)
|
|
|
|
NM_007194.4(CHEK2):c.449T>C (p.Val150Ala)
|
rs587782385
|
|
|
NM_007194.4(CHEK2):c.449T>G (p.Val150Gly)
|
rs587782385
|
|
|
NM_007194.4(CHEK2):c.44G>A (p.Ser15Asn)
|
|
|
|
NM_007194.4(CHEK2):c.44G>T (p.Ser15Ile)
|
rs2054337550
|
|
|
NM_007194.4(CHEK2):c.451G>A (p.Gly151Ser)
|
rs587781377
|
|
|
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp)
|
rs1413319082
|
|
|
NM_007194.4(CHEK2):c.454C>A (p.Pro152Thr)
|
rs2146061931
|
|
|
NM_007194.4(CHEK2):c.454C>G (p.Pro152Ala)
|
|
|
|
NM_007194.4(CHEK2):c.454C>T (p.Pro152Ser)
|
|
|
|
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu)
|
rs1359910629
|
|
|
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu)
|
rs1555927017
|
|
|
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg)
|
rs730881682
|
|
|
NM_007194.4(CHEK2):c.460A>C (p.Asn154His)
|
|
|
|
NM_007194.4(CHEK2):c.460A>T (p.Asn154Tyr)
|
rs1320819223
|
|
|
NM_007194.4(CHEK2):c.461A>G (p.Asn154Ser)
|
rs2146061665
|
|
|
NM_007194.4(CHEK2):c.461A>T (p.Asn154Ile)
|
rs2146061665
|
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
|
NM_007194.4(CHEK2):c.463T>C (p.Ser155Pro)
|
rs1175278074
|
|
|
NM_007194.4(CHEK2):c.464C>G (p.Ser155Cys)
|
|
|
|
NM_007194.4(CHEK2):c.466T>C (p.Tyr156His)
|
rs2053948136
|
|
|
NM_007194.4(CHEK2):c.469A>G (p.Ile157Val)
|
rs748262921
|
|
|
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg)
|
rs1426424086
|
|
|
NM_007194.4(CHEK2):c.46_72del (p.Ser16_Ser24del)
|
rs1555932835
|
|
|
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser)
|
rs17879961
|
|
|
NM_007194.4(CHEK2):c.473C>G (p.Ala158Gly)
|
rs864622351
|
|
|
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val)
|
rs864622351
|
|
|
NM_007194.4(CHEK2):c.473_475dup (p.Ala158_Tyr159insSer)
|
rs2146060962
|
|
|
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys)
|
rs1060502718
|
|
|
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu)
|
rs876659950
|
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
|
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn)
|
rs1060502705
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_007194.4(CHEK2):c.481G>C (p.Glu161Gln)
|
rs1555926951
|
|
|
NM_007194.4(CHEK2):c.482A>C (p.Glu161Ala)
|
|
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
|
NM_007194.4(CHEK2):c.483A>C (p.Glu161Asp)
|
rs1601823895
|
|
|
NM_007194.4(CHEK2):c.484G>A (p.Asp162Asn)
|
rs1555926943
|
|
|
NM_007194.4(CHEK2):c.484G>T (p.Asp162Tyr)
|
rs1555926943
|
|
|
NM_007194.4(CHEK2):c.485A>T (p.Asp162Val)
|
rs587781652
|
|
|
NM_007194.4(CHEK2):c.486T>A (p.Asp162Glu)
|
rs1569157761
|
|
|
NM_007194.4(CHEK2):c.486_488del (p.His163del)
|
rs1064794964
|
|
|
NM_007194.4(CHEK2):c.487C>G (p.His163Asp)
|
|
|
|
NM_007194.4(CHEK2):c.488A>C (p.His163Pro)
|
|
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
|
NM_007194.4(CHEK2):c.490A>G (p.Ser164Gly)
|
rs2053945090
|
|
|
NM_007194.4(CHEK2):c.490A>T (p.Ser164Cys)
|
rs2053945090
|
|
|
NM_007194.4(CHEK2):c.491G>A (p.Ser164Asn)
|
rs1555926921
|
|
|
NM_007194.4(CHEK2):c.491G>C (p.Ser164Thr)
|
rs1555926921
|
|
|
NM_007194.4(CHEK2):c.492T>G (p.Ser164Arg)
|
rs1601823792
|
|
|
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp)
|
rs876660846
|
|
|
NM_007194.4(CHEK2):c.495_496delinsAT (p.Asn166Tyr)
|
rs2053944540
|
|
|
NM_007194.4(CHEK2):c.496A>C (p.Asn166His)
|
rs876659089
|
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
|
NM_007194.4(CHEK2):c.498T>A (p.Asn166Lys)
|
rs759868962
|
|
|
NM_007194.4(CHEK2):c.500G>T (p.Gly167Val)
|
|
|
|
NM_007194.4(CHEK2):c.501_502delinsCC (p.Thr168Pro)
|
|
|
|
NM_007194.4(CHEK2):c.502A>C (p.Thr168Pro)
|
rs1601823689
|
|
|
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala)
|
rs1601823689
|
|
|
NM_007194.4(CHEK2):c.503C>A (p.Thr168Asn)
|
rs730881684
|
|
|
NM_007194.4(CHEK2):c.505T>A (p.Phe169Ile)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser)
|
rs1555926890
|
|
|
NM_007194.4(CHEK2):c.506T>G (p.Phe169Cys)
|
rs1555926890
|
|
|
NM_007194.4(CHEK2):c.507T>A (p.Phe169Leu)
|
|
|
|
NM_007194.4(CHEK2):c.507_509del (p.Phe169_Val170delinsLeu)
|
rs876660363
|
|
|
NM_007194.4(CHEK2):c.509T>C (p.Val170Ala)
|
|
|
|
NM_007194.4(CHEK2):c.50C>G (p.Ala17Gly)
|
|
|
|
NM_007194.4(CHEK2):c.50C>T (p.Ala17Val)
|
rs2146154904
|
|
|
NM_007194.4(CHEK2):c.511A>C (p.Asn171His)
|
rs2146059522
|
|
|
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser)
|
rs2146059474
|
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
|
NM_007194.4(CHEK2):c.515C>T (p.Thr172Ile)
|
rs1601823529
|
|
|
NM_007194.4(CHEK2):c.517G>A (p.Glu173Lys)
|
rs876659804
|
|
|
NM_007194.4(CHEK2):c.518A>T (p.Glu173Val)
|
rs1601823504
|
|
|
NM_007194.4(CHEK2):c.519G>C (p.Glu173Asp)
|
rs2146059257
|
|
|
NM_007194.4(CHEK2):c.520C>G (p.Leu174Val)
|
rs876659400
|
|
|
NM_007194.4(CHEK2):c.521T>C (p.Leu174Pro)
|
rs2146059182
|
|
|
NM_007194.4(CHEK2):c.523G>A (p.Val175Ile)
|
|
|
|
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu)
|
rs2053942160
|
|
|
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala)
|
rs1555926862
|
|
|
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg)
|
rs876661085
|
|
|
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg)
|
rs876661085
|
|
|
NM_007194.4(CHEK2):c.527G>A (p.Gly176Glu)
|
rs1555926854
|
|
|
NM_007194.4(CHEK2):c.529A>C (p.Lys177Gln)
|
|
|
|
NM_007194.4(CHEK2):c.529A>G (p.Lys177Glu)
|
rs796389290
|
|
|
NM_007194.4(CHEK2):c.52T>C (p.Cys18Arg)
|
rs2054336674
|
|
|
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)
|
rs876658857
|
|
|
NM_007194.4(CHEK2):c.530A>G (p.Lys177Arg)
|
|
|
|
NM_007194.4(CHEK2):c.532G>A (p.Gly178Arg)
|
rs1457055483
|
|
|
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg)
|
rs1457055483
|
|
|
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu)
|
rs864622691
|
|
|
NM_007194.4(CHEK2):c.533G>T (p.Gly178Val)
|
rs864622691
|
|
|
NM_007194.4(CHEK2):c.533_534insGAAAGT (p.Lys179_Arg180insValLys)
|
|
|
|
NM_007194.4(CHEK2):c.538C>G (p.Arg180Gly)
|
|
|
|
NM_007194.4(CHEK2):c.539G>C (p.Arg180Pro)
|
rs137853009
|
|
|
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu)
|
rs137853009
|
|
|
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr)
|
rs151218932
|
|
|
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)
|
rs151218932
|
|
|
NM_007194.4(CHEK2):c.541C>A (p.Arg181Ser)
|
|
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
|
NM_007194.4(CHEK2):c.544C>G (p.Pro182Ala)
|
|
|
|
NM_007194.4(CHEK2):c.544C>T (p.Pro182Ser)
|
rs786203973
|
|
|
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser)
|
rs2053939966
|
|
|
NM_007194.4(CHEK2):c.551A>G (p.Asn184Ser)
|
rs1444410452
|
|
|
NM_007194.4(CHEK2):c.552T>A (p.Asn184Lys)
|
|
|
|
NM_007194.4(CHEK2):c.554A>G (p.Asn185Ser)
|
rs2053939554
|
|
|
NM_007194.4(CHEK2):c.555C>A (p.Asn185Lys)
|
rs780782542
|
|
|
NM_007194.4(CHEK2):c.555C>G (p.Asn185Lys)
|
rs780782542
|
|
|
NM_007194.4(CHEK2):c.556A>G (p.Asn186Asp)
|
rs146198085
|
|
|
NM_007194.4(CHEK2):c.556A>T (p.Asn186Tyr)
|
rs146198085
|
|
|
NM_007194.4(CHEK2):c.557A>C (p.Asn186Thr)
|
|
|
|
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile)
|
rs369223840
|
|
|
NM_007194.4(CHEK2):c.557_559del (p.Asn186_Ser187delinsThr)
|
|
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
|
NM_007194.4(CHEK2):c.562G>A (p.Glu188Lys)
|
rs2053938596
|
|
|
NM_007194.4(CHEK2):c.563A>G (p.Glu188Gly)
|
rs757812205
|
|
|
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
|
|
|
|
NM_007194.4(CHEK2):c.566T>C (p.Ile189Thr)
|
rs1456708574
|
|
|
NM_007194.4(CHEK2):c.566T>G (p.Ile189Ser)
|
rs1456708574
|
|
|
NM_007194.4(CHEK2):c.568G>A (p.Ala190Thr)
|
rs764852525
|
|
|
NM_007194.4(CHEK2):c.569C>G (p.Ala190Gly)
|
rs786203483
|
|
|
NM_007194.4(CHEK2):c.571C>G (p.Leu191Val)
|
rs1555926762
|
|
|
NM_007194.4(CHEK2):c.572T>C (p.Leu191Pro)
|
rs1601822957
|
|
|
NM_007194.4(CHEK2):c.573_578del (p.191LS[1])
|
|
|
|
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg)
|
rs786203042
|
|
|
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)
|
rs786203042
|
|
|
NM_007194.4(CHEK2):c.581G>A (p.Ser194Asn)
|
rs1601822839
|
|
|
NM_007194.4(CHEK2):c.585A>T (p.Arg195Ser)
|
|
|
|
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp)
|
rs1060502693
|
|
|
NM_007194.4(CHEK2):c.587A>G (p.Asn196Ser)
|
rs863224751
|
|
|
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu)
|
rs2053936071
|
|
|
NM_007194.4(CHEK2):c.590A>G (p.Lys197Arg)
|
rs1555926718
|
|
|
NM_007194.4(CHEK2):c.591A>G (p.Lys197=)
|
rs1569157165
|
|
|
NM_007194.4(CHEK2):c.591A>T (p.Lys197Asn)
|
|
|
|
NM_007194.4(CHEK2):c.592+16_592+17insGGTAATATTATTATCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCAGCC
|
rs2146055696
|
|
|
NM_007194.4(CHEK2):c.592+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.592+3A>G
|
|
|
|
NM_007194.4(CHEK2):c.592+4A>T
|
rs375905418
|
|
|
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)
|
rs1555926708
|
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.593-3T>C
|
rs2053697211
|
|
|
NM_007194.4(CHEK2):c.593T>A (p.Val198Asp)
|
|
|
|
NM_007194.4(CHEK2):c.593T>C (p.Val198Ala)
|
rs1601806153
|
|
|
NM_007194.4(CHEK2):c.593T>G (p.Val198Gly)
|
rs1601806153
|
|
|
NM_007194.4(CHEK2):c.595T>G (p.Phe199Val)
|
rs2146007516
|
|
|
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile)
|
rs730881704
|
|
|
NM_007194.4(CHEK2):c.598G>T (p.Val200Phe)
|
rs730881704
|
|
|
NM_007194.4(CHEK2):c.599T>A (p.Val200Asp)
|
|
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
|
NM_007194.4(CHEK2):c.5C>G (p.Ser2Cys)
|
|
|
|
NM_007194.4(CHEK2):c.601T>A (p.Phe201Ile)
|
rs786202416
|
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
|
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser)
|
rs1555924525
|
|
|
NM_007194.4(CHEK2):c.602T>G (p.Phe201Cys)
|
rs1555924525
|
|
|
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu)
|
rs758529351
|
|
|
NM_007194.4(CHEK2):c.604_606del (p.Phe202del)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys)
|
rs2053696167
|
|
|
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn)
|
rs1601806038
|
|
|
NM_007194.4(CHEK2):c.608A>C (p.Asp203Ala)
|
rs587782813
|
|
|
NM_007194.4(CHEK2):c.608A>T (p.Asp203Val)
|
rs587782813
|
|
|
NM_007194.4(CHEK2):c.611T>A (p.Leu204Gln)
|
|
|
|
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro)
|
rs1569150113
|
|
|
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala)
|
rs587780187
|
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
|
NM_007194.4(CHEK2):c.614C>G (p.Thr205Ser)
|
rs759734429
|
|
|
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile)
|
rs759734429
|
|
|
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del)
|
rs1385692387
|
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
|
NM_007194.4(CHEK2):c.620A>T (p.Asp207Val)
|
|
|
|
NM_007194.4(CHEK2):c.622G>T (p.Asp208Tyr)
|
rs2053694409
|
|
|
NM_007194.4(CHEK2):c.623A>T (p.Asp208Val)
|
rs1601805877
|
|
|
NM_007194.4(CHEK2):c.624T>A (p.Asp208Glu)
|
rs1555924474
|
|
|
NM_007194.4(CHEK2):c.631G>T (p.Val211Phe)
|
rs1060502692
|
|
|
NM_007194.4(CHEK2):c.635A>C (p.Tyr212Ser)
|
|
|
|
NM_007194.4(CHEK2):c.635A>G (p.Tyr212Cys)
|
rs2053693253
|
|
|
NM_007194.4(CHEK2):c.635A>T (p.Tyr212Phe)
|
|
|
|
NM_007194.4(CHEK2):c.637C>A (p.Pro213Thr)
|
|
|
|
NM_007194.4(CHEK2):c.638C>A (p.Pro213His)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.638C>G (p.Pro213Arg)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)
|
rs1060502708
|
|
|
NM_007194.4(CHEK2):c.644C>T (p.Ala215Val)
|
rs2146005998
|
|
|
NM_007194.4(CHEK2):c.647T>C (p.Leu216Ser)
|
|
|
|
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr)
|
rs1601853823
|
|
|
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile)
|
rs1486909310
|
|
|
NM_007194.4(CHEK2):c.652G>T (p.Asp218Tyr)
|
rs1601805677
|
|
|
NM_007194.4(CHEK2):c.653A>G (p.Asp218Gly)
|
rs961959952
|
|
|
NM_007194.4(CHEK2):c.653A>T (p.Asp218Val)
|
|
|
|
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu)
|
rs907621837
|
|
|
NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp)
|
rs1222043566
|
|
|
NM_007194.4(CHEK2):c.658T>A (p.Tyr220Asn)
|
rs1555924429
|
|
|
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His)
|
rs1555924429
|
|
|
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys)
|
rs1060502690
|
|
|
NM_007194.4(CHEK2):c.65A>G (p.His22Arg)
|
rs1601853800
|
|
|
NM_007194.4(CHEK2):c.660CAT[1] (p.Ile221del)
|
rs1569149693
|
|
|
NM_007194.4(CHEK2):c.661A>C (p.Ile221Leu)
|
rs199749372
|
|
|
NM_007194.4(CHEK2):c.664A>C (p.Met222Leu)
|
rs786203472
|
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
|
|
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys)
|
rs775134484
|
|
|
NM_007194.4(CHEK2):c.665T>G (p.Met222Arg)
|
|
|
|
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu)
|
rs2146004927
|
|
|
NM_007194.4(CHEK2):c.673A>C (p.Thr225Pro)
|
rs1555924390
|
|
|
NM_007194.4(CHEK2):c.674C>G (p.Thr225Ser)
|
rs2146004812
|
|
|
NM_007194.4(CHEK2):c.676C>G (p.Leu226Val)
|
|
|
|
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)
|
rs1296957097
|
|
|
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg)
|
rs878854920
|
|
|
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg)
|
rs878854920
|
|
|
NM_007194.4(CHEK2):c.679_680delinsCT (p.Gly227Leu)
|
|
|
|
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu)
|
rs2053689692
|
|
|
NM_007194.4(CHEK2):c.680G>T (p.Gly227Val)
|
rs2053689692
|
|
|
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly)
|
rs745475247
|
|
|
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys)
|
rs745475247
|
|
|
NM_007194.4(CHEK2):c.683+19T>G
|
rs2146004096
|
|
|
NM_007194.4(CHEK2):c.683+293C>T
|
|
|
|
NM_007194.4(CHEK2):c.683+4A>C
|
rs1064795509
|
|
|
NM_007194.4(CHEK2):c.683+4A>G
|
rs1064795509
|
|
|
NM_007194.4(CHEK2):c.683+5A>C
|
rs2146004424
|
|
|
NM_007194.4(CHEK2):c.683+6T>C
|
rs757664495
|
|
|
NM_007194.4(CHEK2):c.683+6T>G
|
|
|
|
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn)
|
rs1601805361
|
|
|
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.685G>C (p.Gly229Arg)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.685G>T (p.Gly229Cys)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
|
NM_007194.4(CHEK2):c.686G>C (p.Gly229Ala)
|
rs778212685
|
|
|
NM_007194.4(CHEK2):c.688G>A (p.Ala230Thr)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.689C>A (p.Ala230Asp)
|
rs730881685
|
|
|
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val)
|
rs730881685
|
|
|
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp)
|
rs1601853772
|
|
|
NM_007194.4(CHEK2):c.68G>C (p.Gly23Ala)
|
rs1601853772
|
|
|
NM_007194.4(CHEK2):c.691T>C (p.Cys231Arg)
|
rs2053418354
|
|
|
NM_007194.4(CHEK2):c.692G>T (p.Cys231Phe)
|
rs1555921335
|
|
|
NM_007194.4(CHEK2):c.694G>A (p.Gly232Arg)
|
rs1555921319
|
|
|
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu)
|
rs779322187
|
|
|
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val)
|
rs779322187
|
|
|
NM_007194.4(CHEK2):c.698A>C (p.Glu233Ala)
|
rs1601783933
|
|
|
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly)
|
rs1601783933
|
|
|
NM_007194.4(CHEK2):c.69C>T (p.Gly23=)
|
rs865997083
|
|
|
NM_007194.4(CHEK2):c.700_705dup (p.Lys235_Leu236insValLys)
|
|
|
|
NM_007194.4(CHEK2):c.701T>G (p.Val234Gly)
|
rs2053416773
|
|
|
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu)
|
rs780245843
|
|
|
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met)
|
|
|
|
NM_007194.4(CHEK2):c.705G>C (p.Lys235Asn)
|
rs1555921297
|
|
|
NM_007194.4(CHEK2):c.706C>G (p.Leu236Val)
|
rs1060502694
|
|
|
NM_007194.4(CHEK2):c.70A>C (p.Ser24Arg)
|
rs2146153708
|
|
|
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp)
|
rs878854921
|
|
|
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val)
|
rs878854921
|
|
|
NM_007194.4(CHEK2):c.713T>C (p.Phe238Ser)
|
rs2145951876
|
|
|
NM_007194.4(CHEK2):c.714C>G (p.Phe238Leu)
|
rs864622322
|
|
|
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln)
|
rs121908702
|
|
|
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val)
|
rs763892124
|
|
|
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp)
|
rs1555921253
|
|
|
NM_007194.4(CHEK2):c.718A>G (p.Arg240Gly)
|
rs2053414553
|
|
|
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr)
|
rs1323633806
|
|
|
NM_007194.4(CHEK2):c.721A>G (p.Lys241Glu)
|
rs1555921240
|
|
|
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)
|
rs765136136
|
|
|
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly)
|
rs141776984
|
|
|
NM_007194.4(CHEK2):c.728G>A (p.Cys243Tyr)
|
rs1555921203
|
|
|
NM_007194.4(CHEK2):c.72C>G (p.Ser24Arg)
|
|
|
|
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr)
|
rs587778193
|
|
|
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)
|
rs748504161
|
|
|
NM_007194.4(CHEK2):c.736G>C (p.Val246Leu)
|
rs748504161
|
|
|
NM_007194.4(CHEK2):c.737_739del (p.Val246del)
|
rs571741738
|
|
|
NM_007194.4(CHEK2):c.739G>A (p.Ala247Thr)
|
rs2053411813
|
|
|
NM_007194.4(CHEK2):c.739G>C (p.Ala247Pro)
|
rs2053411813
|
|
|
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp)
|
rs1064795978
|
|
|
NM_007194.4(CHEK2):c.740C>T (p.Ala247Val)
|
rs1064795978
|
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.742A>T (p.Ile248Leu)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.743T>A (p.Ile248Lys)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.743T>G (p.Ile248Arg)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.744A>G (p.Ile248Met)
|
|
|
|
NM_007194.4(CHEK2):c.745A>C (p.Lys249Gln)
|
rs1555921132
|
|
|
NM_007194.4(CHEK2):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_007194.4(CHEK2):c.746A>T (p.Lys249Met)
|
rs1601783227
|
|
|
NM_007194.4(CHEK2):c.747G>C (p.Lys249Asn)
|
rs749366698
|
|
|
NM_007194.4(CHEK2):c.747G>T (p.Lys249Asn)
|
rs749366698
|
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
|
NM_007194.4(CHEK2):c.750_761del (p.Ile250_Arg254delinsMet)
|
|
|
|
NM_007194.4(CHEK2):c.752T>A (p.Ile251Asn)
|
rs2053410234
|
|
|
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr)
|
rs2053410234
|
|
|
NM_007194.4(CHEK2):c.754A>G (p.Ser252Gly)
|
rs780042868
|
|
|
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.759A>C (p.Lys253Asn)
|
rs876658377
|
|
|
NM_007194.4(CHEK2):c.761G>A (p.Arg254Lys)
|
rs2053409162
|
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
|
NM_007194.4(CHEK2):c.763A>C (p.Lys255Gln)
|
|
|
|
NM_007194.4(CHEK2):c.764A>G (p.Lys255Arg)
|
rs2145949631
|
|
|
NM_007194.4(CHEK2):c.769G>C (p.Ala257Pro)
|
rs2053408556
|
|
|
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val)
|
rs1060502717
|
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
|
NM_007194.4(CHEK2):c.772A>T (p.Ile258Phe)
|
rs876658690
|
|
|
NM_007194.4(CHEK2):c.775G>T (p.Gly259Cys)
|
rs786201923
|
|
|
NM_007194.4(CHEK2):c.776G>C (p.Gly259Ala)
|
rs1569140096
|
|
|
NM_007194.4(CHEK2):c.778T>C (p.Ser260Pro)
|
|
|
|
NM_007194.4(CHEK2):c.779C>T (p.Ser260Leu)
|
|
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
|
NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile)
|
|
|
|
NM_007194.4(CHEK2):c.781G>T (p.Ala261Ser)
|
|
|
|
NM_007194.4(CHEK2):c.785G>A (p.Arg262Lys)
|
rs1601782873
|
|
|
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys)
|
rs730881686
|
|
|
NM_007194.4(CHEK2):c.787_792+5dup
|
rs2145948560
|
|
|
NM_007194.4(CHEK2):c.789G>T (p.Glu263Asp)
|
rs1555921029
|
|
|
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser)
|
rs752493299
|
|
|
NM_007194.4(CHEK2):c.792+4A>G
|
rs1555921009
|
|
|
NM_007194.4(CHEK2):c.792+5G>A
|
rs876658514
|
|
|
NM_007194.4(CHEK2):c.792+5_792+7del
|
rs2053405998
|
|
|
NM_007194.4(CHEK2):c.792+6T>A
|
|
|
|
NM_007194.4(CHEK2):c.792+6T>C
|
|
|
|
NM_007194.4(CHEK2):c.792+6T>G
|
rs2145948490
|
|
|
NM_007194.4(CHEK2):c.792A>G (p.Ala264=)
|
rs2053406573
|
|
|
NM_007194.4(CHEK2):c.793-10T>C
|
rs2053338194
|
|
|
NM_007194.4(CHEK2):c.793-12T>A
|
rs1555920271
|
|
|
NM_007194.4(CHEK2):c.793-3A>G
|
rs878854924
|
|
|
NM_007194.4(CHEK2):c.793-8T>G
|
rs2145934407
|
|
|
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn)
|
rs1064793689
|
|
|
NM_007194.4(CHEK2):c.794A>G (p.Asp265Gly)
|
rs2053337433
|
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
|
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)
|
rs376736188
|
|
|
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val)
|
rs2053336861
|
|
|
NM_007194.4(CHEK2):c.802C>G (p.Leu268Val)
|
rs766462610
|
|
|
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe)
|
rs766462610
|
|
|
NM_007194.4(CHEK2):c.803T>C (p.Leu268Pro)
|
rs2145933943
|
|
|
NM_007194.4(CHEK2):c.804_818del (p.Asn269_Glu273del)
|
rs2145933418
|
|
|
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp)
|
rs2053336086
|
|
|
NM_007194.4(CHEK2):c.806A>G (p.Asn269Ser)
|
|
|
|
NM_007194.4(CHEK2):c.808G>A (p.Val270Ile)
|
rs2053335680
|
|
|
NM_007194.4(CHEK2):c.808G>C (p.Val270Leu)
|
rs2053335680
|
|
|
NM_007194.4(CHEK2):c.809T>G (p.Val270Gly)
|
rs876660258
|
|
|
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro)
|
rs1060502697
|
|
|
NM_007194.4(CHEK2):c.80A>G (p.Gln27Arg)
|
rs1060502697
|
|
|
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala)
|
rs1426981647
|
|
|
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile)
|
rs2053334664
|
|
|
NM_007194.4(CHEK2):c.817G>A (p.Glu273Lys)
|
rs587782152
|
|
|
NM_007194.4(CHEK2):c.818A>G (p.Glu273Gly)
|
rs755666375
|
|
|
NM_007194.4(CHEK2):c.818A>T (p.Glu273Val)
|
rs755666375
|
|
|
NM_007194.4(CHEK2):c.819A>C (p.Glu273Asp)
|
rs2053333611
|
|
|
NM_007194.4(CHEK2):c.819A>T (p.Glu273Asp)
|
rs2053333611
|
|
|
NM_007194.4(CHEK2):c.81G>C (p.Gln27His)
|
rs2054333241
|
|
|
NM_007194.4(CHEK2):c.824A>G (p.Glu275Gly)
|
|
|
|
NM_007194.4(CHEK2):c.825A>T (p.Glu275Asp)
|
rs2145933082
|
|
|
NM_007194.4(CHEK2):c.827T>A (p.Ile276Asn)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.827T>C (p.Ile276Thr)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.827T>G (p.Ile276Ser)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet)
|
rs1569137812
|
|
|
NM_007194.4(CHEK2):c.82T>C (p.Ser28Pro)
|
|
|
|
NM_007194.4(CHEK2):c.830T>C (p.Leu277Ser)
|
rs1555920150
|
|
|
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe)
|
rs876659698
|
|
|
NM_007194.4(CHEK2):c.833A>T (p.Lys278Ile)
|
|
|
|
NM_007194.4(CHEK2):c.837G>C (p.Lys279Asn)
|
|
|
|
NM_007194.4(CHEK2):c.839T>A (p.Leu280Gln)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.83C>A (p.Ser28Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.83C>T (p.Ser28Phe)
|
|
|
|
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr)
|
rs587782196
|
|
|
NM_007194.4(CHEK2):c.844C>A (p.His282Asn)
|
rs774068238
|
|
|
NM_007194.4(CHEK2):c.844C>T (p.His282Tyr)
|
rs774068238
|
|
|
NM_007194.4(CHEK2):c.846+2dup
|
rs1555920102
|
|
|
NM_007194.4(CHEK2):c.846+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.846+3A>T
|
rs1476026799
|
|
|
NM_007194.4(CHEK2):c.846+4A>G
|
rs991112775
|
|
|
NM_007194.4(CHEK2):c.846+4del
|
rs2053328503
|
|
|
NM_007194.4(CHEK2):c.846+5G>T
|
rs764394796
|
|
|
NM_007194.4(CHEK2):c.846+6T>C
|
rs1555920090
|
|
|
NM_007194.4(CHEK2):c.846T>A (p.His282Gln)
|
|
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
|
NM_007194.4(CHEK2):c.846T>G (p.His282Gln)
|
|
|
|
NM_007194.4(CHEK2):c.847-14_847-13insGAA
|
|
|
|
NM_007194.4(CHEK2):c.847-14_847-13inv
|
|
|
|
NM_007194.4(CHEK2):c.847-17T>G
|
|
|
|
NM_007194.4(CHEK2):c.847-21_847-15del
|
|
|
|
NM_007194.4(CHEK2):c.847-3T>G
|
rs1159089063
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
|
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser)
|
rs1555917036
|
|
|
NM_007194.4(CHEK2):c.848C>A (p.Pro283His)
|
rs781222802
|
|
|
NM_007194.4(CHEK2):c.848C>T (p.Pro283Leu)
|
|
|
|
NM_007194.4(CHEK2):c.850T>C (p.Cys284Arg)
|
rs2052982636
|
|
|
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val)
|
rs1555917027
|
|
|
NM_007194.4(CHEK2):c.853A>T (p.Ile285Phe)
|
rs1555917027
|
|
|
NM_007194.4(CHEK2):c.854TCA[1] (p.Ile286del)
|
rs1555917015
|
|
|
NM_007194.4(CHEK2):c.856A>C (p.Ile286Leu)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr)
|
rs1555917019
|
|
|
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met)
|
rs876659184
|
|
|
NM_007194.4(CHEK2):c.861G>T (p.Lys287Asn)
|
|
|
|
NM_007194.4(CHEK2):c.862A>G (p.Ile288Val)
|
|
|
|
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe)
|
rs1341939689
|
|
|
NM_007194.4(CHEK2):c.865_876del (p.Lys289_Phe292del)
|
rs2145877927
|
|
|
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro)
|
rs876660019
|
|
|
NM_007194.4(CHEK2):c.86A>G (p.Gln29Arg)
|
rs876660019
|
|
|
NM_007194.4(CHEK2):c.870C>A (p.Asn290Lys)
|
rs2052980129
|
|
|
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile)
|
rs2052980010
|
|
|
NM_007194.4(CHEK2):c.874T>A (p.Phe292Ile)
|
|
|
|
NM_007194.4(CHEK2):c.877G>A (p.Asp293Asn)
|
rs876658152
|
|
|
NM_007194.4(CHEK2):c.877G>C (p.Asp293His)
|
|
|
|
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala)
|
rs932236548
|
|
|
NM_007194.4(CHEK2):c.878A>G (p.Asp293Gly)
|
rs932236548
|
|
|
NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)
|
rs762863407
|
|
|
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr)
|
rs2145877658
|
|
|
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly)
|
rs1555916963
|
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
|
NM_007194.4(CHEK2):c.883G>A (p.Glu295Lys)
|
rs1345979642
|
|
|
NM_007194.4(CHEK2):c.883G>C (p.Glu295Gln)
|
rs1345979642
|
|
|
NM_007194.4(CHEK2):c.884A>G (p.Glu295Gly)
|
rs751136808
|
|
|
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp)
|
rs1555916935
|
|
|
NM_007194.4(CHEK2):c.886G>A (p.Asp296Asn)
|
rs876659553
|
|
|
NM_007194.4(CHEK2):c.886G>C (p.Asp296His)
|
rs876659553
|
|
|
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly)
|
rs777397542
|
|
|
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val)
|
rs777397542
|
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
|
NM_007194.4(CHEK2):c.888_908+2dup
|
|
|
|
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser)
|
rs1555932749
|
|
|
NM_007194.4(CHEK2):c.892T>G (p.Tyr298Asp)
|
rs878854927
|
|
|
NM_007194.4(CHEK2):c.893A>C (p.Tyr298Ser)
|
|
|
|
NM_007194.4(CHEK2):c.893A>G (p.Tyr298Cys)
|
rs1569128113
|
|
|
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
|
|
|
|
NM_007194.4(CHEK2):c.895A>G (p.Ile299Val)
|
rs1555916906
|
|
|
NM_007194.4(CHEK2):c.895A>T (p.Ile299Phe)
|
|
|
|
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.897T>G (p.Ile299Met)
|
|
|
|
NM_007194.4(CHEK2):c.898G>A (p.Val300Ile)
|
rs1171168822
|
|
|
NM_007194.4(CHEK2):c.898G>T (p.Val300Phe)
|
|
|
|
NM_007194.4(CHEK2):c.899T>G (p.Val300Gly)
|
rs1467276809
|
|
|
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro)
|
rs779607427
|
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
|
NM_007194.4(CHEK2):c.902T>C (p.Leu301Ser)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.904G>C (p.Glu302Gln)
|
rs587782460
|
|
|
NM_007194.4(CHEK2):c.905A>T (p.Glu302Val)
|
|
|
|
NM_007194.4(CHEK2):c.908+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
|
NM_007194.4(CHEK2):c.908+4A>G
|
rs2145876658
|
|
|
NM_007194.4(CHEK2):c.908+4A>T
|
|
|
|
NM_007194.4(CHEK2):c.908+4del
|
rs1555916874
|
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
|
NM_007194.4(CHEK2):c.908+5G>C
|
rs1064796016
|
|
|
NM_007194.4(CHEK2):c.908+6T>A
|
rs748988275
|
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
|
NM_007194.4(CHEK2):c.908+6del
|
rs2052973458
|
|
|
NM_007194.4(CHEK2):c.908T>G (p.Leu303Trp)
|
rs1233699096
|
|
|
NM_007194.4(CHEK2):c.909-1_909delinsAC
|
|
|
|
NM_007194.4(CHEK2):c.909-29_909-12del
|
|
|
|
NM_007194.4(CHEK2):c.909-3C>G
|
rs1569121928
|
|
|
NM_007194.4(CHEK2):c.909-3C>T
|
rs1569121928
|
|
|
NM_007194.4(CHEK2):c.909-3del
|
rs2145845352
|
|
|
NM_007194.4(CHEK2):c.909-4del
|
rs2145845390
|
|
|
NM_007194.4(CHEK2):c.909-5T>A
|
rs2145845414
|
|
|
NM_007194.4(CHEK2):c.909-6T>A
|
|
|
|
NM_007194.4(CHEK2):c.909G>A (p.Leu303=)
|
rs786202256
|
|
|
NM_007194.4(CHEK2):c.90CTC[2] (p.Ser33del)
|
rs1569171353
|
|
|
NM_007194.4(CHEK2):c.910A>T (p.Met304Leu)
|
rs769436449
|
|
|
NM_007194.4(CHEK2):c.911T>G (p.Met304Arg)
|
rs587782033
|
|
|
NM_007194.4(CHEK2):c.914A>G (p.Glu305Gly)
|
rs587783052
|
|
|
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg)
|
rs587783051
|
|
|
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp)
|
rs587783051
|
|
|
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu)
|
rs587780192
|
|
|
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)
|
rs587780192
|
|
|
NM_007194.4(CHEK2):c.919G>A (p.Gly307Arg)
|
rs1555915533
|
|
|
NM_007194.4(CHEK2):c.919G>C (p.Gly307Arg)
|
|
|
|
NM_007194.4(CHEK2):c.91T>C (p.Ser31Pro)
|
|
|
|
NM_007194.4(CHEK2):c.91_111dup (p.Ser31_Gly37dup)
|
rs876658135
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
|
NM_007194.4(CHEK2):c.922G>A (p.Glu308Lys)
|
|
|
|
NM_007194.4(CHEK2):c.923A>G (p.Glu308Gly)
|
rs2145844660
|
|
|
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp)
|
rs1601739269
|
|
|
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met)
|
rs1569121657
|
|
|
NM_007194.4(CHEK2):c.925C>G (p.Leu309Val)
|
rs786202521
|
|
|
NM_007194.4(CHEK2):c.928T>G (p.Phe310Val)
|
rs2052767851
|
|
|
NM_007194.4(CHEK2):c.929T>G (p.Phe310Cys)
|
|
|
|
NM_007194.4(CHEK2):c.92C>G (p.Ser31Cys)
|
|
|
|
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe)
|
rs1555932714
|
|
|
NM_007194.4(CHEK2):c.931G>C (p.Asp311His)
|
rs587782347
|
|
|
NM_007194.4(CHEK2):c.932A>G (p.Asp311Gly)
|
rs1569121571
|
|
|
NM_007194.4(CHEK2):c.935A>C (p.Lys312Thr)
|
rs1157311218
|
|
|
NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg)
|
rs1157311218
|
|
|
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala)
|
rs1039682955
|
|
|
NM_007194.4(CHEK2):c.938T>G (p.Val313Gly)
|
|
|
|
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu)
|
rs778573074
|
|
|
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg)
|
rs1569121455
|
|
|
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu)
|
rs1555915471
|
|
|
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys)
|
rs1569121419
|
|
|
NM_007194.4(CHEK2):c.950A>G (p.Lys317Arg)
|
rs1601738869
|
|
|
NM_007194.4(CHEK2):c.953G>C (p.Arg318Pro)
|
rs143611747
|
|
|
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu)
|
rs143611747
|
|
|
NM_007194.4(CHEK2):c.955C>G (p.Leu319Val)
|
rs1057524600
|
|
|
NM_007194.4(CHEK2):c.956T>G (p.Leu319Arg)
|
rs766794072
|
|
|
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu)
|
rs587782480
|
|
|
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn)
|
rs1237880782
|
|
|
NM_007194.4(CHEK2):c.961G>A (p.Glu321Lys)
|
rs1555915433
|
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
|
NM_007194.4(CHEK2):c.968C>T (p.Thr323Ile)
|
rs2052761923
|
|
|
NM_007194.4(CHEK2):c.971G>A (p.Cys324Tyr)
|
rs1569121161
|
|
|
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp)
|
rs1060502712
|
|
|
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)
|
rs587780193
|
|
|
NM_007194.4(CHEK2):c.974A>C (p.Lys325Thr)
|
|
|
|
NM_007194.4(CHEK2):c.974A>G (p.Lys325Arg)
|
rs767656411
|
|
|
NM_007194.4(CHEK2):c.975G>T (p.Lys325Asn)
|
|
|
|
NM_007194.4(CHEK2):c.976C>G (p.Leu326Val)
|
rs2052760821
|
|
|
NM_007194.4(CHEK2):c.976C>T (p.Leu326Phe)
|
|
|
|
NM_007194.4(CHEK2):c.977T>C (p.Leu326Pro)
|
rs2145842493
|
|
|
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu)
|
rs2052760168
|
|
|
NM_007194.4(CHEK2):c.986A>C (p.Tyr329Ser)
|
rs774685647
|
|
|
NM_007194.4(CHEK2):c.986A>G (p.Tyr329Cys)
|
rs774685647
|
|
|
NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu)
|
rs768973809
|
|
|
NM_007194.4(CHEK2):c.989A>G (p.Gln330Arg)
|
rs894075046
|
|
|
NM_007194.4(CHEK2):c.990G>C (p.Gln330His)
|
|
|
|
NM_007194.4(CHEK2):c.990G>T (p.Gln330His)
|
rs9625537
|
|
|
NM_007194.4(CHEK2):c.991A>G (p.Met331Val)
|
rs1555915357
|
|
|
NM_007194.4(CHEK2):c.992T>A (p.Met331Lys)
|
rs1555915352
|
|
|
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr)
|
rs1555915352
|
|
|
NM_007194.4(CHEK2):c.993G>A (p.Met331Ile)
|
rs2052758465
|
|
|
NM_007194.4(CHEK2):c.993G>C (p.Met331Ile)
|
rs2052758465
|
|
|
NM_007194.4(CHEK2):c.994C>A (p.Leu332Ile)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.994C>T (p.Leu332Phe)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.995T>A (p.Leu332His)
|
rs1555915337
|
|
|
NM_007194.4(CHEK2):c.995T>C (p.Leu332Pro)
|
rs1555915337
|
|
|
NM_007194.4(CHEK2):c.995T>G (p.Leu332Arg)
|
rs1555915337
|
|
|
NM_007203.5(PALM2AKAP2):c.625G>T (p.Glu209Ter)
|
rs193920924
|
|
|
NM_007294.3(BRCA1):c.302-?_441+?(2)
|
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?(2)
|
|
|
|
NM_007294.4(BRCA1):c.-9C>G
|
rs1555601059
|
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
|
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)
|
rs80356961
|
|
|
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)
|
rs1555592050
|
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
|
NM_007294.4(BRCA1):c.134+3A>G
|
rs80358064
|
|
|
NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg)
|
rs80356863
|
|
|
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu)
|
rs1135401844
|
|
|
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)
|
rs80356981
|
|
|
NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg)
|
rs2054786724
|
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
|
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly)
|
rs770002293
|
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
|
NM_007294.4(BRCA1):c.203T>C (p.Ile68Thr)
|
rs80357116
|
|
|
NM_007294.4(BRCA1):c.212+10T>G
|
rs80358174
|
|
|
NM_007294.4(BRCA1):c.2210C>G (p.Thr737Arg)
|
rs2154392997
|
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
|
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)
|
rs80356884
|
|
|
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp)
|
rs730881483
|
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
|
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr)
|
rs80357097
|
|
|
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)
|
rs1555588991
|
|
|
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His)
|
rs786203786
|
|
|
NM_007294.4(BRCA1):c.3037G>A (p.Glu1013Lys)
|
rs1555588500
|
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
|
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)
|
rs1555588389
|
|
|
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu)
|
rs397509035
|
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
|
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)
|
rs397507211
|
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
|
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)
|
rs80357312
|
|
|
NM_007294.4(BRCA1):c.3374C>A (p.Ser1125Tyr)
|
rs1555587835
|
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
|
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser)
|
rs80357247
|
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
|
NM_007294.4(BRCA1):c.3563G>T (p.Arg1188Met)
|
rs2154303009
|
|
|
NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu)
|
rs886038021
|
|
|
NM_007294.4(BRCA1):c.3660T>C (p.Asp1220=)
|
rs1365746397
|
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
|
NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr)
|
rs1207787135
|
|
|
NM_007294.4(BRCA1):c.3876T>C (p.Ser1292=)
|
rs2154279505
|
|
|
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)
|
rs2053486938
|
|
|
NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser)
|
rs748674194
|
|
|
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)
|
rs374192364
|
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
|
NM_007294.4(BRCA1):c.4096+4T>C
|
rs1597859326
|
|
|
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)
|
rs80356916
|
|
|
NM_007294.4(BRCA1):c.4318G>C (p.Glu1440Gln)
|
rs1555584070
|
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
|
NM_007294.4(BRCA1):c.4357+4T>C
|
rs1555583978
|
|
|
NM_007294.4(BRCA1):c.436T>C (p.Ser146Pro)
|
rs1555596290
|
|
|
NM_007294.4(BRCA1):c.4393A>C (p.Ile1465Leu)
|
rs1567779778
|
|
|
NM_007294.4(BRCA1):c.4416_4417del (p.Ser1473fs)
|
rs886040231
|
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
|
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly)
|
rs757726297
|
|
|
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys)
|
rs397507232
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly)
|
rs28897674
|
|
|
NM_007294.4(BRCA1):c.4595T>C (p.Val1532Ala)
|
rs2052601019
|
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
|
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)
|
rs786202165
|
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
|
NM_007294.4(BRCA1):c.4729T>G (p.Ser1577Ala)
|
rs80356909
|
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
|
NM_007294.4(BRCA1):c.4983A>G (p.Glu1661=)
|
rs2052354666
|
|
|
NM_007294.4(BRCA1):c.4994T>A (p.Val1665Glu)
|
rs1476854015
|
|
|
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)
|
rs886040263
|
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
|
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)
|
rs1555579627
|
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
|
NM_007294.4(BRCA1):c.5153-26A>G
|
rs80358109
|
|
|
NM_007294.4(BRCA1):c.515A>G (p.Gln172Arg)
|
rs1555594863
|
|
|
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys)
|
rs397507244
|
|
|
NM_007294.4(BRCA1):c.5193+3_5193+4insT
|
rs2153552780
|
|
|
NM_007294.4(BRCA1):c.5232A>G (p.Arg1744=)
|
rs2051514714
|
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
|
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
|
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)
|
rs397509268
|
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
|
NM_007294.4(BRCA1):c.536A>T (p.Tyr179Phe)
|
rs56187033
|
|
|
NM_007294.4(BRCA1):c.5372T>A (p.Val1791Glu)
|
rs864622244
|
|
|
NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter)
|
rs776323117
|
|
|
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
|
rs1555574756
|
|
|
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly)
|
rs80357451
|
|
|
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)
|
rs398122698
|
|
|
NM_007294.4(BRCA1):c.5461T>C (p.Phe1821Leu)
|
rs2050978032
|
|
|
NM_007294.4(BRCA1):c.547+6G>A
|
rs1400635407
|
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
|
NM_007294.4(BRCA1):c.671-6T>G
|
rs878854964
|
|
|
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)
|
rs879255288
|
|
|
NM_007294.4(BRCA1):c.81-14C>A
|
rs80358006
|
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
|
NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln)
|
rs756859863
|
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
|
NM_007327.4(GRIN1):c.350C>T (p.Pro117Leu)
|
rs193920837
|
|
|
NM_012090.5(MACF1):c.6753-2_6754delAGAG
|
rs193920778
|
|
|
NM_012120.3(CD2AP):c.560C>T (p.Pro187Leu)
|
rs864622037
|
|
|
NM_012161.4(FBXL5):c.1654del (p.Cys552fs)
|
rs864622020
|
|
|
NM_012301.4(MAGI2):c.1340A>T (p.Asp447Val)
|
rs193920987
|
|
|
NM_012424.6(RPS6KC1):c.3163T>C (p.Phe1055Leu)
|
rs193921071
|
|
|
NM_012426.5(SF3B3):c.1501G>T (p.Gly501Trp)
|
rs193921118
|
|
|
NM_013247.5(HTRA2):c.695T>A (p.Leu232Gln)
|
rs869025234
|
|
|
NM_013289.4(KIR3DL1):c.809G>A (p.Arg270His)
|
rs193921077
|
|
|
NM_013340.4(PCDHB1):c.1655T>C (p.Val552Ala)
|
rs193920928
|
|
|
NM_013341.5(OLA1):c.787T>G (p.Phe263Val)
|
rs193920787
|
|
|
NM_013373.4(ZDHHC8):c.1022C>A (p.Ala341Asp)
|
rs193920775
|
|
|
NM_014215.3(INSRR):c.3397+4del
|
rs1451820799
|
|
|
NM_014236.4(GNPAT):c.1935G>C (p.Lys645Asn)
|
rs193920851
|
|
|
NM_014243.3(ADAMTS3):c.64G>T (p.Gly22Ter)
|
rs193921131
|
|
|
NM_014258.4(SYCP2):c.2365-8T>C
|
rs193921008
|
|
|
NM_014320.3(HEBP2):c.125A>G (p.His42Arg)
|
rs193920889
|
|
|
NM_014364.5(GAPDHS):c.1129G>A (p.Asp377Asn)
|
rs193920833
|
|
|
NM_014458.4(KLHL20):c.257del (p.Leu86fs)
|
rs193920902
|
|
|
NM_014475.4(DHDH):c.611A>T (p.His204Leu)
|
rs757900117
|
|
|
NM_014491.4(FOXP2):c.1164G>T (p.Val388=)
|
|
|
|
NM_014491.4(FOXP2):c.2003+1336G>C
|
|
|
|
NM_014491.4(FOXP2):c.2003+2748G>A
|
|
|
|
NM_014491.4(FOXP2):c.2003+4074C>A
|
|
|
|
NM_014639.4(SKIC3):c.140G>C (p.Gly47Ala)
|
rs193920885
|
|
|
NM_014680.5(BLTP2):c.3387G>A (p.Trp1129Ter)
|
rs193920746
|
|
|
NM_014683.4(ULK2):c.514G>T (p.Ala172Ser)
|
rs193921089
|
|
|
NM_014738.6(TMEM94):c.953A>G (p.Gln318Arg)
|
rs193921068
|
|
|
NM_014757.5(MAML1):c.1163G>T (p.Gly388Val)
|
rs193920768
|
|
|
NM_014777.4(URB2):c.1372C>G (p.Gln458Glu)
|
rs193921013
|
|
|
NM_014805.3(EPM2AIP1):c.-102T>C
|
|
|
|
NM_014805.4(EPM2AIP1):c.7A>G (p.Met3Val)
|
|
|
|
NM_014853.3(SGSM2):c.1696G>A (p.Val566Met)
|
rs864622032
|
|
|
NM_014883.4(FAM13A):c.1459-515_1459-514inv
|
|
|
|
NM_014916.4(LMTK2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs864622025
|
|
|
NM_014982.3(PCNX1):c.3049G>T (p.Ala1017Ser)
|
rs193920949
|
|
|
NM_014991.6(WDFY3):c.10260-7C>G
|
rs193920758
|
|
|
NM_014991.6(WDFY3):c.2630C>A (p.Ala877Asp)
|
rs193920805
|
|
|
NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)
|
rs869312174
|
|
|
NM_015057.5(MYCBP2):c.7770G>A (p.Met2590Ile)
|
rs193920951
|
|
|
NM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg)
|
rs193920745
|
|
|
NM_015208.5(ANKRD12):c.2593G>T (p.Asp865Tyr)
|
rs864622035
|
|
|
NM_015330.6(SPECC1L):c.464G>T (p.Arg155Leu)
|
rs193920978
|
|
|
NM_015373.4(CBY1):c.346C>G (p.Leu116Val)
|
rs193920893
|
|
|
NM_015428.4(ZNF473):c.2359A>T (p.Arg787Ter)
|
rs869025232
|
|
|
NM_015459.5(ATL3):c.1200G>T (p.Lys400Asn)
|
rs864622016
|
|
|
NM_015691.5(WWC3):c.2464C>A (p.Leu822Met)
|
rs193921110
|
|
|
NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr)
|
rs869025231
|
|
|
NM_015868.3(KIR2DL3):c.71-4C>T
|
rs193921051
|
|
|
NM_015938.5(NMD3):c.503C>T (p.Thr168Ile)
|
rs193920996
|
|
|
NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)
|
rs193920845
|
|
|
NM_016120.4(RLIM):c.260del (p.Asp87fs)
|
rs193920920
|
|
|
NM_016162.4(ING4):c.326C>A (p.Ala109Asp)
|
rs193921122
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
|
NM_016339.6(RAPGEFL1):c.851A>G (p.Gln284Arg)
|
rs864622033
|
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
|
NM_016382.4(CD244):c.971G>A (p.Arg324Lys)
|
rs193921024
|
|
|
NM_016427.3(ELOA2):c.367T>C (p.Ser123Pro)
|
rs193920804
|
|
|
NM_017631.6(DDX60):c.1913A>G (p.Gln638Arg)
|
rs864622021
|
|
|
NM_017632.4(CDKN2AIP):c.914T>G (p.Leu305Arg)
|
rs193921061
|
|
|
NM_017712.4(PGPEP1):c.434G>A (p.Gly145Asp)
|
rs193921074
|
|
|
NM_017763.6(RNF43):c.100G>A (p.Ala34Thr)
|
|
|
|
NM_017763.6(RNF43):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_017763.6(RNF43):c.106G>A (p.Val36Met)
|
|
|
|
NM_017763.6(RNF43):c.1087C>G (p.Arg363Gly)
|
rs761926947
|
|
|
NM_017763.6(RNF43):c.1103G>A (p.Arg368Gln)
|
|
|
|
NM_017763.6(RNF43):c.1133C>G (p.Ser378Cys)
|
|
|
|
NM_017763.6(RNF43):c.1156C>T (p.Arg386Trp)
|
|
|
|
NM_017763.6(RNF43):c.1175G>C (p.Arg392Thr)
|
|
|
|
NM_017763.6(RNF43):c.1189C>T (p.Arg397Trp)
|
|
|
|
NM_017763.6(RNF43):c.1249G>C (p.Gly417Arg)
|
|
|
|
NM_017763.6(RNF43):c.1361G>A (p.Arg454His)
|
|
|
|
NM_017763.6(RNF43):c.1405G>C (p.Gly469Arg)
|
|
|
|
NM_017763.6(RNF43):c.1463A>T (p.Gln488Leu)
|
|
|
|
NM_017763.6(RNF43):c.1478G>A (p.Ser493Asn)
|
|
|
|
NM_017763.6(RNF43):c.1491C>A (p.Phe497Leu)
|
rs895521963
|
|
|
NM_017763.6(RNF43):c.1504A>G (p.Ser502Gly)
|
|
|
|
NM_017763.6(RNF43):c.1544G>A (p.Gly515Glu)
|
|
|
|
NM_017763.6(RNF43):c.1586G>A (p.Arg529Gln)
|
rs753874515
|
|
|
NM_017763.6(RNF43):c.1591C>T (p.Arg531Cys)
|
|
|
|
NM_017763.6(RNF43):c.1606G>T (p.Val536Leu)
|
|
|
|
NM_017763.6(RNF43):c.1639C>T (p.His547Tyr)
|
|
|
|
NM_017763.6(RNF43):c.1642G>A (p.Val548Ile)
|
rs375113334
|
|
|
NM_017763.6(RNF43):c.1661G>A (p.Arg554Gln)
|
|
|
|
NM_017763.6(RNF43):c.1681C>T (p.Arg561Trp)
|
|
|
|
NM_017763.6(RNF43):c.172A>G (p.Thr58Ala)
|
rs142864107
|
|
|
NM_017763.6(RNF43):c.1751G>A (p.Arg584Gln)
|
|
|
|
NM_017763.6(RNF43):c.1780_1782del (p.Pro594del)
|
|
|
|
NM_017763.6(RNF43):c.1898G>A (p.Cys633Tyr)
|
|
|
|
NM_017763.6(RNF43):c.1912A>T (p.Ser638Cys)
|
|
|
|
NM_017763.6(RNF43):c.1953C>A (p.His651Gln)
|
|
|
|
NM_017763.6(RNF43):c.1970G>A (p.Arg657Gln)
|
rs142097313
|
|
|
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)
|
rs755128667
|
|
|
NM_017763.6(RNF43):c.2015C>T (p.Ala672Val)
|
|
|
|
NM_017763.6(RNF43):c.2093C>T (p.Pro698Leu)
|
|
|
|
NM_017763.6(RNF43):c.2108C>T (p.Pro703Leu)
|
|
|
|
NM_017763.6(RNF43):c.2127GCT[1] (p.Leu711del)
|
|
|
|
NM_017763.6(RNF43):c.2147G>T (p.Gly716Val)
|
rs765464591
|
|
|
NM_017763.6(RNF43):c.2182_2183insAA (p.Cys728Ter)
|
rs1373662375
|
|
|
NM_017763.6(RNF43):c.2194C>T (p.Arg732Cys)
|
rs775335997
|
|
|
NM_017763.6(RNF43):c.2248G>A (p.Asp750Asn)
|
|
|
|
NM_017763.6(RNF43):c.2267C>G (p.Pro756Arg)
|
rs757324156
|
|
|
NM_017763.6(RNF43):c.2284T>C (p.Cys762Arg)
|
|
|
|
NM_017763.6(RNF43):c.2338G>C (p.Glu780Gln)
|
|
|
|
NM_017763.6(RNF43):c.344C>T (p.Ala115Val)
|
|
|
|
NM_017763.6(RNF43):c.364C>G (p.Leu122Val)
|
|
|
|
NM_017763.6(RNF43):c.377C>T (p.Ala126Val)
|
rs778962170
|
|
|
NM_017763.6(RNF43):c.466G>A (p.Gly156Arg)
|
|
|
|
NM_017763.6(RNF43):c.472A>G (p.Thr158Ala)
|
|
|
|
NM_017763.6(RNF43):c.538C>G (p.Gln180Glu)
|
|
|
|
NM_017763.6(RNF43):c.548A>G (p.His183Arg)
|
rs1230901623
|
|
|
NM_017763.6(RNF43):c.563T>C (p.Leu188Pro)
|
|
|
|
NM_017763.6(RNF43):c.575del (p.Pro192fs)
|
|
|
|
NM_017763.6(RNF43):c.578C>T (p.Ala193Val)
|
|
|
|
NM_017763.6(RNF43):c.626T>C (p.Ile209Thr)
|
|
|
|
NM_017763.6(RNF43):c.656G>A (p.Arg219His)
|
|
|
|
NM_017763.6(RNF43):c.668G>A (p.Arg223His)
|
|
|
|
NM_017763.6(RNF43):c.714G>A (p.Trp238Ter)
|
|
|
|
NM_017763.6(RNF43):c.721A>G (p.Ser241Gly)
|
|
|
|
NM_017763.6(RNF43):c.730G>A (p.Ala244Thr)
|
|
|
|
NM_017763.6(RNF43):c.731C>A (p.Ala244Asp)
|
|
|
|
NM_017763.6(RNF43):c.779C>G (p.Pro260Arg)
|
|
|
|
NM_017763.6(RNF43):c.820A>C (p.Ile274Leu)
|
|
|
|
NM_017763.6(RNF43):c.857G>A (p.Arg286Gln)
|
rs1329721997
|
|
|
NM_017763.6(RNF43):c.887G>A (p.Arg296His)
|
rs1459309530
|
|
|
NM_017763.6(RNF43):c.914A>G (p.Gln305Arg)
|
rs889865921
|
|
|
NM_017763.6(RNF43):c.937A>G (p.Met313Val)
|
|
|
|
NM_017763.6(RNF43):c.952+5G>C
|
|
|
|
NM_017763.6(RNF43):c.974_977delinsGCCG (p.Ser325_Leu326delinsCysArg)
|
|
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
|
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
|
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
|
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)
|
rs992633976
|
|
|
NM_017864.4(INTS8):c.166del (p.Glu56fs)
|
rs193920861
|
|
|
NM_018071.5(ARHGEF40):c.1177C>G (p.Arg393Gly)
|
rs753872972
|
|
|
NM_018078.4(LARP1B):c.1324G>T (p.Asp442Tyr)
|
rs193920764
|
|
|
NM_018090.5(NECAP2):c.462G>T (p.Glu154Asp)
|
rs193921123
|
|
|
NM_018092.5(NETO2):c.1532G>C (p.Arg511Thr)
|
rs193920943
|
|
|
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)
|
rs9895963
|
|
|
NM_018127.7(ELAC2):c.1698+1G>C
|
rs1085307065
|
|
|
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu)
|
rs1435693717
|
|
|
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)
|
rs119484087
|
|
|
NM_018189.4(DPPA4):c.907T>C (p.Trp303Arg)
|
rs193920923
|
|
|
NM_018358.3(ABCF3):c.1327C>T (p.Arg443Trp)
|
rs143852274
|
|
|
NM_018389.5(SLC35C1):c.556G>A (p.Asp186Asn)
|
rs193920915
|
|
|
NM_018433.6(KDM3A):c.2685+6TGTT[2]
|
rs193921056
|
|
|
NM_018448.5(CAND1):c.737G>A (p.Gly246Asp)
|
rs193921038
|
|
|
NM_018557.3(LRP1B):c.10187G>C (p.Cys3396Ser)
|
rs193920865
|
|
|
NM_018557.3(LRP1B):c.6648G>T (p.Glu2216Asp)
|
rs193921022
|
|
|
NM_018557.3(LRP1B):c.9120+2T>C
|
rs1688749606
|
|
|
NM_018714.3(COG1):c.1348C>T (p.Gln450Ter)
|
rs193921130
|
|
|
NM_018714.3(COG1):c.2125G>A (p.Val709Ile)
|
rs193920973
|
|
|
NM_018715.4(RCC2):c.782G>C (p.Cys261Ser)
|
rs864622010
|
|
|
NM_018901.4(PCDHA10):c.1166C>T (p.Thr389Met)
|
rs193920994
|
|
|
NM_018945.4(PDE7B):c.742C>T (p.Arg248Ter)
|
rs193920799
|
|
|
NM_019030.4(DHX29):c.875A>T (p.Glu292Val)
|
rs193920824
|
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
|
NM_019040.5(ELP4):c.*1615A>C
|
rs1171230486
|
|
|
NM_019040.5(ELP4):c.*1626G>A
|
rs1269133831
|
|
|
NM_019040.5(ELP4):c.*2041C>G
|
rs544117348
|
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
|
NM_019040.5(ELP4):c.*2522G>T
|
rs1948594512
|
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
|
NM_019040.5(ELP4):c.*2992G>A
|
rs1948639449
|
|
|
NM_019040.5(ELP4):c.*3588A>G
|
rs906435505
|
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
|
NM_019040.5(ELP4):c.*3706T>A
|
rs1948715280
|
|
|
NM_019040.5(ELP4):c.*3715T>A
|
rs558836571
|
|
|
NM_019040.5(ELP4):c.*3772G>C
|
rs865924000
|
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
|
NM_019040.5(ELP4):c.*4056G>A
|
rs1948752515
|
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
|
NM_019040.5(ELP4):c.*4542G>T
|
rs1948792866
|
|
|
NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter)
|
rs1945237259
|
|
|
NM_020062.4(SLC2A4RG):c.1060C>A (p.Arg354Ser)
|
rs193920971
|
|
|
NM_020190.5(OLFML3):c.402C>G (p.Asp134Glu)
|
rs193920761
|
|
|
NM_020297.4(ABCC9):c.2663G>T (p.Gly888Val)
|
rs869025242
|
|
|
NM_020348.3(CNNM1):c.957G>C (p.Glu319Asp)
|
rs869025226
|
|
|
NM_020361.5(CPA6):c.1217G>C (p.Gly406Ala)
|
rs193921039
|
|
|
NM_020382.7(KMT5A):c.290-3C>A
|
rs193920812
|
|
|
NM_020630.5(RET):c.-234_-230dup
|
rs386134265
|
|
|
NM_020653.4(ZNF287):c.1093G>C (p.Glu365Gln)
|
rs193920744
|
|
|
NM_020657.4(ZNF304):c.1400T>A (p.Ile467Lys)
|
rs193920881
|
|
|
NM_020693.4(DSCAML1):c.2141A>G (p.Asp714Gly)
|
rs193920955
|
|
|
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)
|
rs2035064004
|
|
|
NM_020786.4(PDP2):c.890A>G (p.Asn297Ser)
|
rs193921129
|
|
|
NM_020893.6(CCDC180):c.1843C>G (p.Pro615Ala)
|
rs869025225
|
|
|
NM_020904.3(PLEKHA4):c.20_28del (p.Arg7_Ser9del)
|
rs193920946
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
|
NM_020975.4(RET):c.(?_-1)_(*1_?)dup
|
|
|
|
NM_020975.4(RET):c.2139_2141del
|
rs1838075264
|
|
|
NM_020975.5(RET):c.2731-?_*(1_?)del
|
|
|
|
NM_020975.6(RET):c.-3G>A
|
|
|
|
NM_020975.6(RET):c.-4G>T
|
|
|
|
NM_020975.6(RET):c.1000T>C (p.Trp334Arg)
|
rs2132721114
|
|
|
NM_020975.6(RET):c.1003C>A (p.Pro335Thr)
|
rs1837782662
|
|
|
NM_020975.6(RET):c.1003C>G (p.Pro335Ala)
|
|
|
|
NM_020975.6(RET):c.1007A>G (p.Asn336Ser)
|
|
|
|
NM_020975.6(RET):c.1009G>A (p.Glu337Lys)
|
rs1161270866
|
|
|
NM_020975.6(RET):c.1009G>C (p.Glu337Gln)
|
rs1161270866
|
|
|
NM_020975.6(RET):c.100G>A (p.Asp34Asn)
|
rs1837613489
|
|
|
NM_020975.6(RET):c.100G>T (p.Asp34Tyr)
|
rs1837613489
|
|
|
NM_020975.6(RET):c.1013C>A (p.Thr338Asn)
|
rs377767433
|
|
|
NM_020975.6(RET):c.1015T>C (p.Ser339Pro)
|
rs1837782901
|
|
|
NM_020975.6(RET):c.101A>G (p.Asp34Gly)
|
rs2132657310
|
|
|
NM_020975.6(RET):c.1021C>G (p.Gln341Glu)
|
rs1588867362
|
|
|
NM_020975.6(RET):c.1027A>C (p.Asn343His)
|
|
|
|
NM_020975.6(RET):c.1028A>G (p.Asn343Ser)
|
|
|
|
NM_020975.6(RET):c.1030G>C (p.Gly344Arg)
|
|
|
|
NM_020975.6(RET):c.1034G>A (p.Ser345Asn)
|
|
|
|
NM_020975.6(RET):c.1037T>G (p.Phe346Cys)
|
rs2132721788
|
|
|
NM_020975.6(RET):c.1038C>G (p.Phe346Leu)
|
rs1240935395
|
|
|
NM_020975.6(RET):c.1039G>A (p.Val347Met)
|
rs1467660660
|
|
|
NM_020975.6(RET):c.103G>A (p.Ala35Thr)
|
rs984301854
|
|
|
NM_020975.6(RET):c.1046C>G (p.Ala349Gly)
|
rs754859905
|
|
|
NM_020975.6(RET):c.1049C>T (p.Thr350Ile)
|
rs587778660
|
|
|
NM_020975.6(RET):c.1052T>C (p.Val351Ala)
|
|
|
|
NM_020975.6(RET):c.1055A>G (p.His352Arg)
|
rs1131691450
|
|
|
NM_020975.6(RET):c.1057G>T (p.Asp353Tyr)
|
rs1837785429
|
|
|
NM_020975.6(RET):c.1058A>C (p.Asp353Ala)
|
rs1837785512
|
|
|
NM_020975.6(RET):c.1061A>G (p.Tyr354Cys)
|
|
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
|
NM_020975.6(RET):c.1063+6A>G
|
|
|
|
NM_020975.6(RET):c.1063+6_1063+7del
|
|
|
|
NM_020975.6(RET):c.1063+6del
|
|
|
|
NM_020975.6(RET):c.1063A>T (p.Arg355Trp)
|
rs145402131
|
|
|
NM_020975.6(RET):c.1064-3C>T
|
rs1286466592
|
|
|
NM_020975.6(RET):c.1064-9T>G
|
|
|
|
NM_020975.6(RET):c.1064-9delinsGG
|
|
|
|
NM_020975.6(RET):c.1064G>A (p.Arg355Lys)
|
rs1837849583
|
|
|
NM_020975.6(RET):c.1065G>T (p.Arg355Ser)
|
|
|
|
NM_020975.6(RET):c.1066C>A (p.Leu356Met)
|
rs876660102
|
|
|
NM_020975.6(RET):c.1075A>C (p.Asn359His)
|
|
|
|
NM_020975.6(RET):c.1076A>C (p.Asn359Thr)
|
|
|
|
NM_020975.6(RET):c.1076A>G (p.Asn359Ser)
|
|
|
|
NM_020975.6(RET):c.1076A>T (p.Asn359Ile)
|
rs1204350955
|
|
|
NM_020975.6(RET):c.1078C>T (p.Arg360Trp)
|
|
|
|
NM_020975.6(RET):c.1082A>T (p.Asn361Ile)
|
|
|
|
NM_020975.6(RET):c.1087T>C (p.Ser363Pro)
|
|
|
|
NM_020975.6(RET):c.1097A>T (p.Glu366Val)
|
|
|
|
NM_020975.6(RET):c.1098G>C (p.Glu366Asp)
|
rs1362164894
|
|
|
NM_020975.6(RET):c.10G>A (p.Ala4Thr)
|
rs1837063785
|
|
|
NM_020975.6(RET):c.1105A>G (p.Thr369Ala)
|
|
|
|
NM_020975.6(RET):c.1106C>A (p.Thr369Asn)
|
|
|
|
NM_020975.6(RET):c.1108A>G (p.Met370Val)
|
rs1280159133
|
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
|
NM_020975.6(RET):c.1111C>G (p.Gln371Glu)
|
rs1242961674
|
|
|
NM_020975.6(RET):c.1112A>G (p.Gln371Arg)
|
|
|
|
NM_020975.6(RET):c.1118C>A (p.Ala373Glu)
|
rs546866208
|
|
|
NM_020975.6(RET):c.1129A>G (p.Asn377Asp)
|
|
|
|
NM_020975.6(RET):c.1130A>G (p.Asn377Ser)
|
rs1588869351
|
|
|
NM_020975.6(RET):c.1132G>A (p.Asp378Asn)
|
rs2132744359
|
|
|
NM_020975.6(RET):c.1139A>C (p.Asp380Ala)
|
rs755400887
|
|
|
NM_020975.6(RET):c.113A>T (p.Glu38Val)
|
rs1588862401
|
|
|
NM_020975.6(RET):c.1141T>C (p.Phe381Leu)
|
rs781362020
|
|
|
NM_020975.6(RET):c.1142T>G (p.Phe381Cys)
|
|
|
|
NM_020975.6(RET):c.1147G>A (p.Gly383Ser)
|
|
|
|
NM_020975.6(RET):c.1148G>A (p.Gly383Asp)
|
|
|
|
NM_020975.6(RET):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
|
NM_020975.6(RET):c.1159G>A (p.Gly387Ser)
|
|
|
|
NM_020975.6(RET):c.1160G>C (p.Gly387Ala)
|
|
|
|
NM_020975.6(RET):c.1162G>T (p.Val388Phe)
|
rs776223166
|
|
|
NM_020975.6(RET):c.1170G>C (p.Leu390Phe)
|
|
|
|
NM_020975.6(RET):c.1175A>G (p.His392Arg)
|
rs2132745297
|
|
|
NM_020975.6(RET):c.1189G>A (p.Val397Met)
|
rs183729115
|
|
|
NM_020975.6(RET):c.1193T>C (p.Leu398Pro)
|
|
|
|
NM_020975.6(RET):c.1196C>G (p.Pro399Arg)
|
|
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
|
NM_020975.6(RET):c.11C>T (p.Ala4Val)
|
rs1837063876
|
|
|
NM_020975.6(RET):c.1203C>A (p.Ser401Arg)
|
rs781623106
|
|
|
NM_020975.6(RET):c.1207C>T (p.His403Tyr)
|
rs1449633271
|
|
|
NM_020975.6(RET):c.1216A>C (p.Ser406Arg)
|
|
|
|
NM_020975.6(RET):c.1222T>C (p.Tyr408His)
|
rs778754580
|
|
|
NM_020975.6(RET):c.1223A>T (p.Tyr408Phe)
|
rs864622405
|
|
|
NM_020975.6(RET):c.1225T>G (p.Ser409Ala)
|
|
|
|
NM_020975.6(RET):c.1226C>G (p.Ser409Cys)
|
|
|
|
NM_020975.6(RET):c.1228C>T (p.Leu410Phe)
|
rs1588869546
|
|
|
NM_020975.6(RET):c.1229T>A (p.Leu410His)
|
|
|
|
NM_020975.6(RET):c.1232C>G (p.Ser411Cys)
|
rs2132746693
|
|
|
NM_020975.6(RET):c.1236G>C (p.Val412=)
|
rs1060500761
|
|
|
NM_020975.6(RET):c.1238G>A (p.Ser413Asn)
|
rs1837859435
|
|
|
NM_020975.6(RET):c.1239C>A (p.Ser413Arg)
|
rs1837859530
|
|
|
NM_020975.6(RET):c.1240_1251del (p.Arg415_Arg418del)
|
|
|
|
NM_020975.6(RET):c.1249C>G (p.Arg417Gly)
|
rs1478152005
|
|
|
NM_020975.6(RET):c.124G>T (p.Val42Leu)
|
rs2132658120
|
|
|
NM_020975.6(RET):c.1250G>C (p.Arg417Pro)
|
|
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
|
NM_020975.6(RET):c.1256T>A (p.Phe419Tyr)
|
rs1588869586
|
|
|
NM_020975.6(RET):c.1258G>A (p.Ala420Thr)
|
|
|
|
NM_020975.6(RET):c.1259C>G (p.Ala420Gly)
|
rs1837860722
|
|
|
NM_020975.6(RET):c.1259C>T (p.Ala420Val)
|
|
|
|
NM_020975.6(RET):c.1263+3G>A
|
|
|
|
NM_020975.6(RET):c.1263+9A>G
|
rs1837861041
|
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
|
NM_020975.6(RET):c.1264-11T>C
|
|
|
|
NM_020975.6(RET):c.1264-3T>C
|
rs2132765385
|
|
|
NM_020975.6(RET):c.1264-3del
|
rs1837912264
|
|
|
NM_020975.6(RET):c.1264-4del
|
|
|
|
NM_020975.6(RET):c.1264-55dup
|
rs193922698
|
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
|
NM_020975.6(RET):c.1267G>A (p.Gly423Arg)
|
rs767601598
|
|
|
NM_020975.6(RET):c.1267G>T (p.Gly423Trp)
|
|
|
|
NM_020975.6(RET):c.1273G>A (p.Val425Ile)
|
rs764558748
|
|
|
NM_020975.6(RET):c.1273G>T (p.Val425Phe)
|
rs764558748
|
|
|
NM_020975.6(RET):c.1277G>T (p.Cys426Phe)
|
rs1387494484
|
|
|
NM_020975.6(RET):c.1279G>T (p.Val427Leu)
|
rs1356436038
|
|
|
NM_020975.6(RET):c.1280T>C (p.Val427Ala)
|
|
|
|
NM_020975.6(RET):c.1283A>G (p.Glu428Gly)
|
rs2132766146
|
|
|
NM_020975.6(RET):c.1285A>G (p.Asn429Asp)
|
|
|
|
NM_020975.6(RET):c.1285A>T (p.Asn429Tyr)
|
rs779625196
|
|
|
NM_020975.6(RET):c.1289G>T (p.Cys430Phe)
|
|
|
|
NM_020975.6(RET):c.1294G>A (p.Ala432Thr)
|
rs780630024
|
|
|
NM_020975.6(RET):c.1294G>T (p.Ala432Ser)
|
|
|
|
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
|
|
|
|
NM_020975.6(RET):c.1295_1296delinsAG (p.Ala432Glu)
|
rs386743165
|
|
|
NM_020975.6(RET):c.1295_1296delinsGG (p.Ala432Gly)
|
rs386743165
|
|
|
NM_020975.6(RET):c.1295_1296inv (p.Ala432Val)
|
|
|
|
NM_020975.6(RET):c.1299C>G (p.Phe433Leu)
|
rs1554818526
|
|
|
NM_020975.6(RET):c.129C>G (p.Asp43Glu)
|
|
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
|
NM_020975.6(RET):c.1301G>A (p.Ser434Asn)
|
|
|
|
NM_020975.6(RET):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_020975.6(RET):c.1310A>C (p.Asn437Thr)
|
|
|
|
NM_020975.6(RET):c.1310A>G (p.Asn437Ser)
|
rs1260532632
|
|
|
NM_020975.6(RET):c.1317G>C (p.Gln439His)
|
|
|
|
NM_020975.6(RET):c.1327C>T (p.His443Tyr)
|
rs772292843
|
|
|
NM_020975.6(RET):c.1328A>T (p.His443Leu)
|
rs2132767831
|
|
|
NM_020975.6(RET):c.132G>C (p.Gln44His)
|
rs2132658453
|
|
|
NM_020975.6(RET):c.1330T>C (p.Ser444Pro)
|
|
|
|
NM_020975.6(RET):c.1334C>G (p.Ser445Cys)
|
|
|
|
NM_020975.6(RET):c.1339G>A (p.Ala447Thr)
|
rs2132768249
|
|
|
NM_020975.6(RET):c.133G>A (p.Ala45Thr)
|
rs2132658488
|
|
|
NM_020975.6(RET):c.1340C>A (p.Ala447Asp)
|
rs1588871155
|
|
|
NM_020975.6(RET):c.1345T>C (p.Cys449Arg)
|
rs1158236145
|
|
|
NM_020975.6(RET):c.1348A>G (p.Ser450Gly)
|
rs1837916996
|
|
|
NM_020975.6(RET):c.1349G>A (p.Ser450Asn)
|
|
|
|
NM_020975.6(RET):c.134C>A (p.Ala45Glu)
|
rs763526874
|
|
|
NM_020975.6(RET):c.1358G>C (p.Gly453Ala)
|
rs1837917640
|
|
|
NM_020975.6(RET):c.135_136delinsGT (p.Ala46Ser)
|
|
|
|
NM_020975.6(RET):c.1360G>A (p.Val454Met)
|
|
|
|
NM_020975.6(RET):c.1360G>C (p.Val454Leu)
|
|
|
|
NM_020975.6(RET):c.1361T>C (p.Val454Ala)
|
|
|
|
NM_020975.6(RET):c.1363G>T (p.Val455Phe)
|
|
|
|
NM_020975.6(RET):c.1366A>G (p.Thr456Ala)
|
|
|
|
NM_020975.6(RET):c.1367C>G (p.Thr456Ser)
|
rs1286634866
|
|
|
NM_020975.6(RET):c.136G>T (p.Ala46Ser)
|
rs1419255561
|
|
|
NM_020975.6(RET):c.1370C>T (p.Ser457Leu)
|
rs1837918176
|
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
|
NM_020975.6(RET):c.1375G>C (p.Glu459Gln)
|
|
|
|
NM_020975.6(RET):c.1377G>T (p.Glu459Asp)
|
rs1564494424
|
|
|
NM_020975.6(RET):c.137C>T (p.Ala46Val)
|
rs1837615394
|
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
|
NM_020975.6(RET):c.13A>G (p.Thr5Ala)
|
|
|
|
NM_020975.6(RET):c.1402A>G (p.Asn468Asp)
|
rs1554818536
|
|
|
NM_020975.6(RET):c.1403A>G (p.Asn468Ser)
|
rs1467587616
|
|
|
NM_020975.6(RET):c.1405G>A (p.Asp469Asn)
|
rs772489699
|
|
|
NM_020975.6(RET):c.1405G>T (p.Asp469Tyr)
|
rs772489699
|
|
|
NM_020975.6(RET):c.1406A>G (p.Asp469Gly)
|
rs1588871253
|
|
|
NM_020975.6(RET):c.1406A>T (p.Asp469Val)
|
rs1588871253
|
|
|
NM_020975.6(RET):c.1407C>G (p.Asp469Glu)
|
rs1357302036
|
|
|
NM_020975.6(RET):c.1408A>G (p.Thr470Ala)
|
|
|
|
NM_020975.6(RET):c.1409C>T (p.Thr470Ile)
|
rs925104163
|
|
|
NM_020975.6(RET):c.1412A>C (p.Lys471Thr)
|
rs2132771245
|
|
|
NM_020975.6(RET):c.1414G>A (p.Ala472Thr)
|
rs1253227059
|
|
|
NM_020975.6(RET):c.1420C>G (p.Arg474Gly)
|
rs775842917
|
|
|
NM_020975.6(RET):c.1427C>G (p.Pro476Arg)
|
rs762335805
|
|
|
NM_020975.6(RET):c.1427C>T (p.Pro476Leu)
|
rs762335805
|
|
|
NM_020975.6(RET):c.1430A>C (p.Lys477Thr)
|
|
|
|
NM_020975.6(RET):c.1432T>C (p.Cys478Arg)
|
rs1837921298
|
|
|
NM_020975.6(RET):c.1433G>A (p.Cys478Tyr)
|
rs1459885382
|
|
|
NM_020975.6(RET):c.143C>T (p.Thr48Met)
|
rs1427186016
|
|
|
NM_020975.6(RET):c.1440A>C (p.Glu480Asp)
|
rs763296134
|
|
|
NM_020975.6(RET):c.1444C>T (p.His482Tyr)
|
rs2132773139
|
|
|
NM_020975.6(RET):c.1445A>G (p.His482Arg)
|
rs876659821
|
|
|
NM_020975.6(RET):c.1447T>C (p.Tyr483His)
|
|
|
|
NM_020975.6(RET):c.1450A>C (p.Met484Leu)
|
rs755660496
|
|
|
NM_020975.6(RET):c.1450A>G (p.Met484Val)
|
rs755660496
|
|
|
NM_020975.6(RET):c.1450A>T (p.Met484Leu)
|
rs755660496
|
|
|
NM_020975.6(RET):c.1451T>C (p.Met484Thr)
|
|
|
|
NM_020975.6(RET):c.1452G>C (p.Met484Ile)
|
|
|
|
NM_020975.6(RET):c.1453G>T (p.Val485Leu)
|
|
|
|
NM_020975.6(RET):c.1456G>A (p.Val486Met)
|
rs1588871361
|
|
|
NM_020975.6(RET):c.1456G>T (p.Val486Leu)
|
rs1588871361
|
|
|
NM_020975.6(RET):c.1460C>G (p.Ala487Gly)
|
rs1837922418
|
|
|
NM_020975.6(RET):c.1460C>T (p.Ala487Val)
|
rs1837922418
|
|
|
NM_020975.6(RET):c.1462A>G (p.Thr488Ala)
|
rs753733901
|
|
|
NM_020975.6(RET):c.1463C>A (p.Thr488Asn)
|
|
|
|
NM_020975.6(RET):c.1464C>A (p.Thr488=)
|
rs921948385
|
|
|
NM_020975.6(RET):c.1466A>T (p.Asp489Val)
|
rs923351888
|
|
|
NM_020975.6(RET):c.1467C>A (p.Asp489Glu)
|
rs372648203
|
|
|
NM_020975.6(RET):c.1467C>G (p.Asp489Glu)
|
rs372648203
|
|
|
NM_020975.6(RET):c.1468C>A (p.Gln490Lys)
|
rs1588871393
|
|
|
NM_020975.6(RET):c.1468C>G (p.Gln490Glu)
|
rs1588871393
|
|
|
NM_020975.6(RET):c.1469A>G (p.Gln490Arg)
|
rs750291418
|
|
|
NM_020975.6(RET):c.1472A>G (p.Gln491Arg)
|
|
|
|
NM_020975.6(RET):c.1477T>C (p.Ser493Pro)
|
rs780467203
|
|
|
NM_020975.6(RET):c.1477T>G (p.Ser493Ala)
|
|
|
|
NM_020975.6(RET):c.1480A>T (p.Arg494Trp)
|
rs1837924019
|
|
|
NM_020975.6(RET):c.1481G>A (p.Arg494Lys)
|
|
|
|
NM_020975.6(RET):c.1483C>A (p.Gln495Lys)
|
|
|
|
NM_020975.6(RET):c.1484A>G (p.Gln495Arg)
|
rs1474283003
|
|
|
NM_020975.6(RET):c.1486G>A (p.Ala496Thr)
|
rs1172578380
|
|
|
NM_020975.6(RET):c.1486G>T (p.Ala496Ser)
|
|
|
|
NM_020975.6(RET):c.1487C>T (p.Ala496Val)
|
rs1356271817
|
|
|
NM_020975.6(RET):c.1491G>C (p.Gln497His)
|
|
|
|
NM_020975.6(RET):c.1493C>G (p.Ala498Gly)
|
rs375677628
|
|
|
NM_020975.6(RET):c.14C>G (p.Thr5Arg)
|
rs1444096302
|
|
|
NM_020975.6(RET):c.14C>T (p.Thr5Met)
|
rs1444096302
|
|
|
NM_020975.6(RET):c.1501C>T (p.Leu501Phe)
|
rs199572076
|
|
|
NM_020975.6(RET):c.1504G>C (p.Val502Leu)
|
rs770395347
|
|
|
NM_020975.6(RET):c.1507A>G (p.Thr503Ala)
|
|
|
|
NM_020975.6(RET):c.1510G>T (p.Val504Leu)
|
|
|
|
NM_020975.6(RET):c.1511T>C (p.Val504Ala)
|
rs1837925624
|
|
|
NM_020975.6(RET):c.1513G>A (p.Glu505Lys)
|
rs1837925799
|
|
|
NM_020975.6(RET):c.1514A>T (p.Glu505Val)
|
rs1837925886
|
|
|
NM_020975.6(RET):c.1516G>A (p.Gly506Arg)
|
rs763356763
|
|
|
NM_020975.6(RET):c.1517G>A (p.Gly506Glu)
|
|
|
|
NM_020975.6(RET):c.1517G>C (p.Gly506Ala)
|
|
|
|
NM_020975.6(RET):c.1519T>A (p.Ser507Thr)
|
rs1588871498
|
|
|
NM_020975.6(RET):c.1521A>G (p.Ser507=)
|
rs876660561
|
|
|
NM_020975.6(RET):c.1523-12T>G
|
rs1429462039
|
|
|
NM_020975.6(RET):c.1523A>T (p.Tyr508Phe)
|
|
|
|
NM_020975.6(RET):c.1533G>T (p.Glu511Asp)
|
rs1588872048
|
|
|
NM_020975.6(RET):c.1537G>A (p.Ala513Thr)
|
rs1837949233
|
|
|
NM_020975.6(RET):c.1538C>T (p.Ala513Val)
|
rs149238501
|
|
|
NM_020975.6(RET):c.1540G>A (p.Gly514Ser)
|
|
|
|
NM_020975.6(RET):c.1546C>A (p.Pro516Thr)
|
rs1588872077
|
|
|
NM_020975.6(RET):c.1546C>T (p.Pro516Ser)
|
|
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
|
NM_020975.6(RET):c.1549C>G (p.Leu517Val)
|
rs764616982
|
|
|
NM_020975.6(RET):c.1550T>G (p.Leu517Arg)
|
|
|
|
NM_020975.6(RET):c.1553C>A (p.Ser518Tyr)
|
rs2132797325
|
|
|
NM_020975.6(RET):c.1553C>T (p.Ser518Phe)
|
rs2132797325
|
|
|
NM_020975.6(RET):c.1562T>C (p.Val521Ala)
|
rs1837950711
|
|
|
NM_020975.6(RET):c.1564A>T (p.Ser522Cys)
|
rs1837950789
|
|
|
NM_020975.6(RET):c.1565G>A (p.Ser522Asn)
|
|
|
|
NM_020975.6(RET):c.1567A>C (p.Lys523Gln)
|
rs766278774
|
|
|
NM_020975.6(RET):c.1568A>G (p.Lys523Arg)
|
rs1588872122
|
|
|
NM_020975.6(RET):c.1569G>T (p.Lys523Asn)
|
|
|
|
NM_020975.6(RET):c.1571G>A (p.Arg524Lys)
|
|
|
|
NM_020975.6(RET):c.1573C>G (p.Arg525Gly)
|
rs545625150
|
|
|
NM_020975.6(RET):c.1577T>A (p.Leu526Gln)
|
rs756248937
|
|
|
NM_020975.6(RET):c.1577T>C (p.Leu526Pro)
|
rs756248937
|
|
|
NM_020975.6(RET):c.1579G>A (p.Glu527Lys)
|
rs1837951863
|
|
|
NM_020975.6(RET):c.1580A>C (p.Glu527Ala)
|
rs1588872141
|
|
|
NM_020975.6(RET):c.1580A>T (p.Glu527Val)
|
|
|
|
NM_020975.6(RET):c.1581G>C (p.Glu527Asp)
|
rs2132799116
|
|
|
NM_020975.6(RET):c.1591T>C (p.Cys531Arg)
|
rs377767390
|
|
|
NM_020975.6(RET):c.1594G>A (p.Gly532Ser)
|
rs1837952811
|
|
|
NM_020975.6(RET):c.1600C>G (p.Leu534Val)
|
|
|
|
NM_020975.6(RET):c.1606_1617del (p.Ser536_Gly539del)
|
|
|
|
NM_020975.6(RET):c.1609C>T (p.Pro537Ser)
|
rs1438717389
|
|
|
NM_020975.6(RET):c.160C>T (p.His54Tyr)
|
rs2132659466
|
|
|
NM_020975.6(RET):c.1610C>T (p.Pro537Leu)
|
|
|
|
NM_020975.6(RET):c.1615G>A (p.Gly539Ser)
|
|
|
|
NM_020975.6(RET):c.1616G>A (p.Gly539Asp)
|
|
|
|
NM_020975.6(RET):c.161A>G (p.His54Arg)
|
rs756858300
|
|
|
NM_020975.6(RET):c.1624G>A (p.Glu542Lys)
|
rs1837954784
|
|
|
NM_020975.6(RET):c.1631G>A (p.Arg544Lys)
|
rs1837954895
|
|
|
NM_020975.6(RET):c.1633C>A (p.Gln545Lys)
|
rs890269439
|
|
|
NM_020975.6(RET):c.1638A>T (p.Gly546=)
|
rs1412128218
|
|
|
NM_020975.6(RET):c.1639G>A (p.Asp547Asn)
|
rs1837955355
|
|
|
NM_020975.6(RET):c.1646A>G (p.Lys549Arg)
|
rs1837955731
|
|
|
NM_020975.6(RET):c.1647A>C (p.Lys549Asn)
|
|
|
|
NM_020975.6(RET):c.1648+4A>C
|
rs1837955885
|
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
|
NM_020975.6(RET):c.1648G>T (p.Gly550Trp)
|
|
|
|
NM_020975.6(RET):c.1649-17C>G
|
rs2132812441
|
|
|
NM_020975.6(RET):c.1655C>T (p.Thr552Ile)
|
rs2132813020
|
|
|
NM_020975.6(RET):c.1658G>A (p.Arg553Lys)
|
rs1837971610
|
|
|
NM_020975.6(RET):c.1660A>G (p.Asn554Asp)
|
rs1837971699
|
|
|
NM_020975.6(RET):c.1661A>G (p.Asn554Ser)
|
rs200047805
|
|
|
NM_020975.6(RET):c.1661A>T (p.Asn554Ile)
|
rs200047805
|
|
|
NM_020975.6(RET):c.1666T>G (p.Ser556Ala)
|
|
|
|
NM_020975.6(RET):c.1678C>G (p.Pro560Ala)
|
|
|
|
NM_020975.6(RET):c.1681A>G (p.Ser561Gly)
|
|
|
|
NM_020975.6(RET):c.1681A>T (p.Ser561Cys)
|
rs201972250
|
|
|
NM_020975.6(RET):c.1682G>A (p.Ser561Asn)
|
|
|
|
NM_020975.6(RET):c.1684A>C (p.Thr562Pro)
|
rs759342879
|
|
|
NM_020975.6(RET):c.1684A>T (p.Thr562Ser)
|
rs759342879
|
|
|
NM_020975.6(RET):c.1685C>T (p.Thr562Ile)
|
|
|
|
NM_020975.6(RET):c.1687A>G (p.Lys563Glu)
|
rs1387381256
|
|
|
NM_020975.6(RET):c.1688A>C (p.Lys563Thr)
|
rs863224777
|
|
|
NM_020975.6(RET):c.1688A>G (p.Lys563Arg)
|
rs863224777
|
|
|
NM_020975.6(RET):c.1689G>C (p.Lys563Asn)
|
|
|
|
NM_020975.6(RET):c.1690A>T (p.Thr564Ser)
|
rs1588872756
|
|
|
NM_020975.6(RET):c.1697C>T (p.Pro566Leu)
|
rs1319956362
|
|
|
NM_020975.6(RET):c.169C>G (p.Arg57Gly)
|
|
|
|
NM_020975.6(RET):c.169C>T (p.Arg57Trp)
|
rs876658284
|
|
|
NM_020975.6(RET):c.16T>C (p.Ser6Pro)
|
rs1588848475
|
|
|
NM_020975.6(RET):c.16T>G (p.Ser6Ala)
|
rs1588848475
|
|
|
NM_020975.6(RET):c.1705C>T (p.His569Tyr)
|
rs1258200571
|
|
|
NM_020975.6(RET):c.172G>A (p.Asp58Asn)
|
rs1321002969
|
|
|
NM_020975.6(RET):c.1730A>T (p.Asp577Val)
|
rs2132816375
|
|
|
NM_020975.6(RET):c.1731C>G (p.Asp577Glu)
|
rs1554818709
|
|
|
NM_020975.6(RET):c.1732A>G (p.Ile578Val)
|
rs1837975551
|
|
|
NM_020975.6(RET):c.1733T>A (p.Ile578Asn)
|
|
|
|
NM_020975.6(RET):c.1733T>C (p.Ile578Thr)
|
|
|
|
NM_020975.6(RET):c.1734C>G (p.Ile578Met)
|
rs1564495318
|
|
|
NM_020975.6(RET):c.1738A>C (p.Ile580Leu)
|
|
|
|
NM_020975.6(RET):c.1738A>G (p.Ile580Val)
|
|
|
|
NM_020975.6(RET):c.1747C>A (p.Gln583Lys)
|
|
|
|
NM_020975.6(RET):c.1757T>A (p.Leu586His)
|
rs2132817593
|
|
|
NM_020975.6(RET):c.1758C>T (p.Leu586=)
|
rs2132817702
|
|
|
NM_020975.6(RET):c.1759+12T>C
|
|
|
|
NM_020975.6(RET):c.1759+16T>C
|
|
|
|
NM_020975.6(RET):c.1759C>G (p.Arg587Gly)
|
rs748905470
|
|
|
NM_020975.6(RET):c.1760_1761delinsAA (p.Arg587Gln)
|
|
|
|
NM_020975.6(RET):c.1762G>A (p.Gly588Ser)
|
|
|
|
NM_020975.6(RET):c.1763G>A (p.Gly588Asp)
|
|
|
|
NM_020975.6(RET):c.1763G>T (p.Gly588Val)
|
|
|
|
NM_020975.6(RET):c.1765A>C (p.Ser589Arg)
|
rs786202597
|
|
|
NM_020975.6(RET):c.1769T>C (p.Ile590Thr)
|
rs1348219647
|
|
|
NM_020975.6(RET):c.176C>T (p.Ala59Val)
|
rs1554817372
|
|
|
NM_020975.6(RET):c.1777G>A (p.Gly593Arg)
|
rs878855059
|
|
|
NM_020975.6(RET):c.1778G>C (p.Gly593Ala)
|
|
|
|
NM_020975.6(RET):c.1780C>T (p.His594Tyr)
|
rs778622905
|
|
|
NM_020975.6(RET):c.1782C>G (p.His594Gln)
|
|
|
|
NM_020975.6(RET):c.1783G>A (p.Glu595Lys)
|
rs1483605155
|
|
|
NM_020975.6(RET):c.1783G>C (p.Glu595Gln)
|
rs1483605155
|
|
|
NM_020975.6(RET):c.1785G>T (p.Glu595Asp)
|
rs1204846773
|
|
|
NM_020975.6(RET):c.178C>A (p.Pro60Thr)
|
rs748402485
|
|
|
NM_020975.6(RET):c.1792G>A (p.Glu598Lys)
|
rs2132827786
|
|
|
NM_020975.6(RET):c.1799G>A (p.Arg600Gln)
|
rs377767393
|
|
|
NM_020975.6(RET):c.179C>T (p.Pro60Leu)
|
rs1405257965
|
|
|
NM_020975.6(RET):c.1804A>T (p.Ile602Phe)
|
rs1837992915
|
|
|
NM_020975.6(RET):c.1806T>G (p.Ile602Met)
|
|
|
|
NM_020975.6(RET):c.1807A>C (p.Lys603Gln)
|
rs377767394
|
|
|
NM_020975.6(RET):c.1814G>T (p.Gly605Val)
|
rs1031388542
|
|
|
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)
|
rs377767395
|
|
|
NM_020975.6(RET):c.181G>A (p.Glu61Lys)
|
|
|
|
NM_020975.6(RET):c.1821C>T (p.Gly607=)
|
rs1837993502
|
|
|
NM_020975.6(RET):c.1822A>G (p.Thr608Ala)
|
|
|
|
NM_020975.6(RET):c.1828A>C (p.Asn610His)
|
rs1837994023
|
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
|
NM_020975.6(RET):c.182A>C (p.Glu61Ala)
|
rs1564489398
|
|
|
NM_020975.6(RET):c.1834T>C (p.Phe612Leu)
|
|
|
|
NM_020975.6(RET):c.183G>C (p.Glu61Asp)
|
rs1235890606
|
|
|
NM_020975.6(RET):c.1840GAG[2] (p.Glu616del)
|
rs377767399
|
|
|
NM_020975.6(RET):c.1840GAG[4] (p.Glu616_Lys617insGlu)
|
rs377767399
|
|
|
NM_020975.6(RET):c.1843G>A (p.Glu615Lys)
|
rs1837995252
|
|
|
NM_020975.6(RET):c.1846G>A (p.Glu616Lys)
|
rs1393753095
|
|
|
NM_020975.6(RET):c.1846G>C (p.Glu616Gln)
|
rs1393753095
|
|
|
NM_020975.6(RET):c.1861G>A (p.Glu621Lys)
|
|
|
|
NM_020975.6(RET):c.1865_1866delinsTT (p.Pro622Leu)
|
rs1837996489
|
|
|
NM_020975.6(RET):c.186G>C (p.Glu62Asp)
|
|
|
|
NM_020975.6(RET):c.1874T>C (p.Ile625Thr)
|
|
|
|
NM_020975.6(RET):c.1875C>G (p.Ile625Met)
|
|
|
|
NM_020975.6(RET):c.1876C>A (p.Gln626Lys)
|
rs1255575160
|
|
|
NM_020975.6(RET):c.1877A>T (p.Gln626Leu)
|
|
|
|
NM_020975.6(RET):c.1878G>C (p.Gln626His)
|
rs147692872
|
|
|
NM_020975.6(RET):c.1879+3G>A
|
rs1588873478
|
|
|
NM_020975.6(RET):c.1879+6T>C
|
rs1588873485
|
|
|
NM_020975.6(RET):c.1879G>A (p.Asp627Asn)
|
rs2132832112
|
|
|
NM_020975.6(RET):c.187G>A (p.Val63Met)
|
|
|
|
NM_020975.6(RET):c.1880-3C>T
|
|
|
|
NM_020975.6(RET):c.1882C>G (p.Pro628Ala)
|
rs754466051
|
|
|
NM_020975.6(RET):c.1882_1890dup (p.Cys630_Asp631insProLeuCys)
|
|
|
|
NM_020975.6(RET):c.1883C>T (p.Pro628Leu)
|
|
|
|
NM_020975.6(RET):c.1886T>C (p.Leu629Pro)
|
rs1838016977
|
|
|
NM_020975.6(RET):c.1886T>G (p.Leu629Arg)
|
|
|
|
NM_020975.6(RET):c.1888T>G (p.Cys630Gly)
|
rs377767404
|
|
|
NM_020975.6(RET):c.1890CGA[1] (p.Asp631del)
|
rs377767435
|
|
|
NM_020975.6(RET):c.1892A>T (p.Asp631Val)
|
rs121913308
|
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
|
NM_020975.6(RET):c.1893C>G (p.Asp631Glu)
|
|
|
|
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del)
|
rs121913312
|
|
|
NM_020975.6(RET):c.1895A>T (p.Glu632Val)
|
rs1335705237
|
|
|
NM_020975.6(RET):c.1897_1899del (p.Leu633del)
|
|
|
|
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu)
|
rs1588874068
|
|
|
NM_020975.6(RET):c.1904G>T (p.Arg635Leu)
|
rs776164321
|
|
|
NM_020975.6(RET):c.1905C>T (p.Arg635=)
|
rs2132844912
|
|
|
NM_020975.6(RET):c.1915G>T (p.Ala639Ser)
|
rs777122776
|
|
|
NM_020975.6(RET):c.191C>T (p.Pro64Leu)
|
rs77596424
|
|
|
NM_020975.6(RET):c.1921G>C (p.Ala641Pro)
|
rs377767411
|
|
|
NM_020975.6(RET):c.1921G>T (p.Ala641Ser)
|
rs377767411
|
|
|
NM_020975.6(RET):c.1924G>A (p.Val642Ile)
|
|
|
|
NM_020975.6(RET):c.1927_1929del (p.Leu643del)
|
|
|
|
NM_020975.6(RET):c.1928T>C (p.Leu643Pro)
|
rs2132846207
|
|
|
NM_020975.6(RET):c.1933T>C (p.Ser645Pro)
|
|
|
|
NM_020975.6(RET):c.1934_1936del (p.Ser645del)
|
rs1416677590
|
|
|
NM_020975.6(RET):c.1936T>G (p.Phe646Val)
|
|
|
|
NM_020975.6(RET):c.1942G>T (p.Val648Phe)
|
rs77711105
|
|
|
NM_020975.6(RET):c.1943T>C (p.Val648Ala)
|
rs864622505
|
|
|
NM_020975.6(RET):c.1948G>A (p.Val650Met)
|
|
|
|
NM_020975.6(RET):c.1957T>A (p.Ser653Thr)
|
|
|
|
NM_020975.6(RET):c.1961C>T (p.Ala654Val)
|
|
|
|
NM_020975.6(RET):c.1963T>G (p.Phe655Val)
|
rs756978792
|
|
|
NM_020975.6(RET):c.1965C>G (p.Phe655Leu)
|
|
|
|
NM_020975.6(RET):c.1969A>T (p.Ile657Phe)
|
|
|
|
NM_020975.6(RET):c.1971C>G (p.Ile657Met)
|
rs2132848081
|
|
|
NM_020975.6(RET):c.1972C>T (p.His658Tyr)
|
|
|
|
NM_020975.6(RET):c.1977C>G (p.Cys659Trp)
|
rs2132848413
|
|
|
NM_020975.6(RET):c.1978T>C (p.Tyr660His)
|
rs2132848458
|
|
|
NM_020975.6(RET):c.1982A>G (p.His661Arg)
|
rs1838023752
|
|
|
NM_020975.6(RET):c.1984A>G (p.Lys662Glu)
|
rs1838023938
|
|
|
NM_020975.6(RET):c.1985A>C (p.Lys662Thr)
|
rs1588874193
|
|
|
NM_020975.6(RET):c.1985A>G (p.Lys662Arg)
|
rs1588874193
|
|
|
NM_020975.6(RET):c.1990G>T (p.Ala664Ser)
|
rs1357060080
|
|
|
NM_020975.6(RET):c.1991C>T (p.Ala664Val)
|
rs2132848989
|
|
|
NM_020975.6(RET):c.1993C>T (p.His665Tyr)
|
rs1228832134
|
|
|
NM_020975.6(RET):c.1994A>G (p.His665Arg)
|
rs1838024434
|
|
|
NM_020975.6(RET):c.1995C>A (p.His665Gln)
|
rs377767413
|
|
|
NM_020975.6(RET):c.1996_2001del (p.Lys666_Pro667del)
|
rs1838024811
|
|
|
NM_020975.6(RET):c.1997A>G (p.Lys666Arg)
|
rs377767439
|
|
|
NM_020975.6(RET):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_020975.6(RET):c.2003C>T (p.Pro668Leu)
|
rs1482522995
|
|
|
NM_020975.6(RET):c.2007CTC[1] (p.Ser671del)
|
|
|
|
NM_020975.6(RET):c.2014G>T (p.Ala672Ser)
|
rs1838026024
|
|
|
NM_020975.6(RET):c.2026T>C (p.Phe676Leu)
|
rs2132850697
|
|
|
NM_020975.6(RET):c.2029C>T (p.Arg677Trp)
|
rs1432069386
|
|
|
NM_020975.6(RET):c.202C>A (p.Leu68Met)
|
rs1588862565
|
|
|
NM_020975.6(RET):c.202C>T (p.Leu68=)
|
rs1588862565
|
|
|
NM_020975.6(RET):c.2030G>A (p.Arg677Gln)
|
rs536038262
|
|
|
NM_020975.6(RET):c.2038G>T (p.Ala680Ser)
|
|
|
|
NM_020975.6(RET):c.2039C>T (p.Ala680Val)
|
rs1838027230
|
|
|
NM_020975.6(RET):c.2043G>T (p.Gln681His)
|
|
|
|
NM_020975.6(RET):c.2045C>T (p.Ala682Val)
|
rs1283566936
|
|
|
NM_020975.6(RET):c.2053G>A (p.Val685Ile)
|
rs753686782
|
|
|
NM_020975.6(RET):c.2054T>C (p.Val685Ala)
|
rs1422796781
|
|
|
NM_020975.6(RET):c.2056A>G (p.Ser686Gly)
|
|
|
|
NM_020975.6(RET):c.205G>A (p.Gly69Ser)
|
rs2132661153
|
|
|
NM_020975.6(RET):c.2062T>C (p.Ser688Pro)
|
rs750681372
|
|
|
NM_020975.6(RET):c.2062T>G (p.Ser688Ala)
|
|
|
|
NM_020975.6(RET):c.2068T>G (p.Ser690Ala)
|
rs1838028995
|
|
|
NM_020975.6(RET):c.206G>A (p.Gly69Asp)
|
rs2132661188
|
|
|
NM_020975.6(RET):c.2071G>C (p.Gly691Arg)
|
rs1799939
|
|
|
NM_020975.6(RET):c.2071G>T (p.Gly691Cys)
|
rs1799939
|
|
|
NM_020975.6(RET):c.2075C>A (p.Ala692Asp)
|
|
|
|
NM_020975.6(RET):c.2075_2076delinsAA (p.Ala692Glu)
|
|
|
|
NM_020975.6(RET):c.2076C>G (p.Ala692=)
|
rs1414025702
|
|
|
NM_020975.6(RET):c.2077C>T (p.Arg693Cys)
|
|
|
|
NM_020975.6(RET):c.2087C>T (p.Ser696Leu)
|
rs1564496520
|
|
|
NM_020975.6(RET):c.2090T>C (p.Leu697Pro)
|
rs1293039001
|
|
|
NM_020975.6(RET):c.2092G>A (p.Asp698Asn)
|
|
|
|
NM_020975.6(RET):c.2095T>C (p.Ser699Pro)
|
|
|
|
NM_020975.6(RET):c.2096C>T (p.Ser699Phe)
|
rs1838030910
|
|
|
NM_020975.6(RET):c.2098A>T (p.Met700Leu)
|
rs377767441
|
|
|
NM_020975.6(RET):c.2098_2115dup (p.Ser705_Val706insMetGluAsnGlnValSer)
|
rs1345270276
|
|
|
NM_020975.6(RET):c.2099T>C (p.Met700Thr)
|
|
|
|
NM_020975.6(RET):c.209A>G (p.Gln70Arg)
|
rs1329573334
|
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
|
NM_020975.6(RET):c.20G>T (p.Gly7Val)
|
rs1366681125
|
|
|
NM_020975.6(RET):c.2100G>A (p.Met700Ile)
|
rs1564496551
|
|
|
NM_020975.6(RET):c.2104A>G (p.Asn702Asp)
|
|
|
|
NM_020975.6(RET):c.2105A>G (p.Asn702Ser)
|
rs1838031378
|
|
|
NM_020975.6(RET):c.2107C>G (p.Gln703Glu)
|
rs2132854777
|
|
|
NM_020975.6(RET):c.2108A>G (p.Gln703Arg)
|
rs1838031470
|
|
|
NM_020975.6(RET):c.2109G>C (p.Gln703His)
|
|
|
|
NM_020975.6(RET):c.2111T>A (p.Val704Asp)
|
|
|
|
NM_020975.6(RET):c.2116G>T (p.Val706Leu)
|
rs137855422
|
|
|
NM_020975.6(RET):c.2119G>C (p.Asp707His)
|
|
|
|
NM_020975.6(RET):c.2120A>G (p.Asp707Gly)
|
|
|
|
NM_020975.6(RET):c.2125T>A (p.Phe709Ile)
|
|
|
|
NM_020975.6(RET):c.2125T>C (p.Phe709Leu)
|
|
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
|
NM_020975.6(RET):c.212A>G (p.His71Arg)
|
rs1837618595
|
|
|
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)
|
rs760272063
|
|
|
NM_020975.6(RET):c.2136+11C>G
|
|
|
|
NM_020975.6(RET):c.2136+2T>G
|
|
|
|
NM_020975.6(RET):c.2136+6G>T
|
|
|
|
NM_020975.6(RET):c.2141A>C (p.Asp714Ala)
|
rs2132902595
|
|
|
NM_020975.6(RET):c.2143C>A (p.Pro715Thr)
|
rs1838075429
|
|
|
NM_020975.6(RET):c.2143C>G (p.Pro715Ala)
|
|
|
|
NM_020975.6(RET):c.2159C>T (p.Pro720Leu)
|
rs1588875462
|
|
|
NM_020975.6(RET):c.2161C>G (p.Arg721Gly)
|
|
|
|
NM_020975.6(RET):c.2161C>T (p.Arg721Trp)
|
rs1554819146
|
|
|
NM_020975.6(RET):c.2176C>T (p.Leu726Phe)
|
rs1838076418
|
|
|
NM_020975.6(RET):c.2183A>G (p.Lys728Arg)
|
rs1042740895
|
|
|
NM_020975.6(RET):c.2186C>T (p.Thr729Ile)
|
rs2132904896
|
|
|
NM_020975.6(RET):c.2188C>G (p.Leu730Val)
|
rs1838076782
|
|
|
NM_020975.6(RET):c.2194G>A (p.Glu732Lys)
|
|
|
|
NM_020975.6(RET):c.2200G>A (p.Glu734Lys)
|
rs1838077120
|
|
|
NM_020975.6(RET):c.2210A>G (p.Lys737Arg)
|
rs2132906106
|
|
|
NM_020975.6(RET):c.2211A>C (p.Lys737Asn)
|
|
|
|
NM_020975.6(RET):c.2215G>A (p.Val739Ile)
|
rs2132906367
|
|
|
NM_020975.6(RET):c.2218A>G (p.Lys740Glu)
|
rs1838077401
|
|
|
NM_020975.6(RET):c.2221G>A (p.Ala741Thr)
|
rs2132906751
|
|
|
NM_020975.6(RET):c.2229C>T (p.Ala743=)
|
rs1838077833
|
|
|
NM_020975.6(RET):c.2231T>C (p.Phe744Ser)
|
|
|
|
NM_020975.6(RET):c.2234A>C (p.His745Pro)
|
rs534094626
|
|
|
NM_020975.6(RET):c.2234A>G (p.His745Arg)
|
rs534094626
|
|
|
NM_020975.6(RET):c.2236C>G (p.Leu746Val)
|
rs1838078155
|
|
|
NM_020975.6(RET):c.2239A>C (p.Lys747Gln)
|
|
|
|
NM_020975.6(RET):c.2241A>G (p.Lys747=)
|
|
|
|
NM_020975.6(RET):c.2248G>C (p.Ala750Pro)
|
rs1554819165
|
|
|
NM_020975.6(RET):c.2251G>A (p.Gly751Arg)
|
rs756163867
|
|
|
NM_020975.6(RET):c.2252G>A (p.Gly751Glu)
|
|
|
|
NM_020975.6(RET):c.2254T>C (p.Tyr752His)
|
rs984978805
|
|
|
NM_020975.6(RET):c.2255A>G (p.Tyr752Cys)
|
rs909451217
|
|
|
NM_020975.6(RET):c.2257A>C (p.Thr753Pro)
|
|
|
|
NM_020975.6(RET):c.2257A>G (p.Thr753Ala)
|
rs1838079291
|
|
|
NM_020975.6(RET):c.2262G>C (p.Thr754=)
|
rs779080598
|
|
|
NM_020975.6(RET):c.2263G>A (p.Val755Met)
|
rs2132909324
|
|
|
NM_020975.6(RET):c.2264T>C (p.Val755Ala)
|
rs1256848994
|
|
|
NM_020975.6(RET):c.2267C>A (p.Ala756Asp)
|
rs1838079858
|
|
|
NM_020975.6(RET):c.2267C>G (p.Ala756Gly)
|
rs1838079858
|
|
|
NM_020975.6(RET):c.2284+3A>G
|
rs1838080251
|
|
|
NM_020975.6(RET):c.2284+4C>G
|
rs1838080320
|
|
|
NM_020975.6(RET):c.2284+4C>T
|
|
|
|
NM_020975.6(RET):c.2286G>T (p.Glu762Asp)
|
rs1323183090
|
|
|
NM_020975.6(RET):c.2287A>G (p.Asn763Asp)
|
rs878855060
|
|
|
NM_020975.6(RET):c.2297C>A (p.Pro766Gln)
|
|
|
|
NM_020975.6(RET):c.2297C>G (p.Pro766Arg)
|
rs1017108031
|
|
|
NM_020975.6(RET):c.2297C>T (p.Pro766Leu)
|
rs1017108031
|
|
|
NM_020975.6(RET):c.22G>T (p.Ala8Ser)
|
rs1476325851
|
|
|
NM_020975.6(RET):c.2309G>A (p.Arg770Gln)
|
rs377767414
|
|
|
NM_020975.6(RET):c.2309G>C (p.Arg770Pro)
|
rs377767414
|
|
|
NM_020975.6(RET):c.2313C>G (p.Asp771Glu)
|
rs1838123343
|
|
|
NM_020975.6(RET):c.2318T>G (p.Leu773Arg)
|
|
|
|
NM_020975.6(RET):c.2327T>A (p.Phe776Tyr)
|
|
|
|
NM_020975.6(RET):c.232A>C (p.Thr78Pro)
|
rs2132662087
|
|
|
NM_020975.6(RET):c.2330A>G (p.Asn777Ser)
|
rs377767415
|
|
|
NM_020975.6(RET):c.2332G>T (p.Val778Phe)
|
rs75686697
|
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
|
NM_020975.6(RET):c.2344G>A (p.Val782Ile)
|
rs1838124605
|
|
|
NM_020975.6(RET):c.2344G>T (p.Val782Phe)
|
rs1838124605
|
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
|
NM_020975.6(RET):c.2348A>G (p.Asn783Ser)
|
rs587778656
|
|
|
NM_020975.6(RET):c.2356C>T (p.His786Tyr)
|
|
|
|
NM_020975.6(RET):c.2362A>G (p.Ile788Val)
|
rs1588876533
|
|
|
NM_020975.6(RET):c.2369T>C (p.Leu790Ser)
|
|
|
|
NM_020975.6(RET):c.2372A>G (p.Tyr791Cys)
|
rs77724903
|
|
|
NM_020975.6(RET):c.2377G>A (p.Ala793Thr)
|
|
|
|
NM_020975.6(RET):c.2378C>T (p.Ala793Val)
|
rs1554819410
|
|
|
NM_020975.6(RET):c.2385C>A (p.Ser795Arg)
|
|
|
|
NM_020975.6(RET):c.2388G>T (p.Gln796His)
|
|
|
|
NM_020975.6(RET):c.2392+11C>G
|
|
|
|
NM_020975.6(RET):c.2392+20G>A
|
|
|
|
NM_020975.6(RET):c.2392+6G>A
|
rs1554819413
|
|
|
NM_020975.6(RET):c.2392+6G>T
|
rs1554819413
|
|
|
NM_020975.6(RET):c.2392+7C>T
|
rs1223172915
|
|
|
NM_020975.6(RET):c.2393-14C>G
|
rs144269978
|
|
|
NM_020975.6(RET):c.2393-6C>G
|
|
|
|
NM_020975.6(RET):c.2393G>A (p.Gly798Asp)
|
rs1453303247
|
|
|
NM_020975.6(RET):c.2396C>A (p.Pro799Gln)
|
|
|
|
NM_020975.6(RET):c.2396C>T (p.Pro799Leu)
|
|
|
|
NM_020975.6(RET):c.2401C>G (p.Leu801Val)
|
rs1364361946
|
|
|
NM_020975.6(RET):c.2401C>T (p.Leu801Phe)
|
|
|
|
NM_020975.6(RET):c.2411T>C (p.Val804Ala)
|
rs1554819520
|
|
|
NM_020975.6(RET):c.2413G>A (p.Glu805Lys)
|
rs377767418
|
|
|
NM_020975.6(RET):c.2413G>C (p.Glu805Gln)
|
rs377767418
|
|
|
NM_020975.6(RET):c.2414A>C (p.Glu805Ala)
|
|
|
|
NM_020975.6(RET):c.2416T>C (p.Tyr806His)
|
rs1838154415
|
|
|
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys)
|
rs377767419
|
|
|
NM_020975.6(RET):c.2419G>A (p.Ala807Thr)
|
rs760012685
|
|
|
NM_020975.6(RET):c.2419G>T (p.Ala807Ser)
|
rs760012685
|
|
|
NM_020975.6(RET):c.2420C>G (p.Ala807Gly)
|
|
|
|
NM_020975.6(RET):c.2420C>T (p.Ala807Val)
|
rs1554819523
|
|
|
NM_020975.6(RET):c.2424A>C (p.Lys808Asn)
|
|
|
|
NM_020975.6(RET):c.2426A>C (p.Tyr809Ser)
|
|
|
|
NM_020975.6(RET):c.2428G>A (p.Gly810Ser)
|
rs764784013
|
|
|
NM_020975.6(RET):c.242A>G (p.His81Arg)
|
rs1217729118
|
|
|
NM_020975.6(RET):c.2432C>G (p.Ser811Cys)
|
rs587778657
|
|
|
NM_020975.6(RET):c.2441G>A (p.Gly814Asp)
|
|
|
|
NM_020975.6(RET):c.2443T>C (p.Phe815Leu)
|
rs1838156276
|
|
|
NM_020975.6(RET):c.2444T>G (p.Phe815Cys)
|
rs2132944356
|
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
|
NM_020975.6(RET):c.2452G>C (p.Glu818Gln)
|
|
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
|
NM_020975.6(RET):c.2456G>A (p.Ser819Asn)
|
|
|
|
NM_020975.6(RET):c.2457C>G (p.Ser819Arg)
|
rs375322585
|
|
|
NM_020975.6(RET):c.2458C>T (p.Arg820Cys)
|
|
|
|
NM_020975.6(RET):c.2461A>G (p.Lys821Glu)
|
rs749421642
|
|
|
NM_020975.6(RET):c.2464G>A (p.Val822Met)
|
rs1588877202
|
|
|
NM_020975.6(RET):c.2464G>C (p.Val822Leu)
|
rs1588877202
|
|
|
NM_020975.6(RET):c.2464G>T (p.Val822Leu)
|
rs1588877202
|
|
|
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)
|
rs138847998
|
|
|
NM_020975.6(RET):c.2468G>A (p.Gly823Glu)
|
rs142779213
|
|
|
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn)
|
rs1445590151
|
|
|
NM_020975.6(RET):c.2476T>C (p.Tyr826His)
|
rs1445590151
|
|
|
NM_020975.6(RET):c.2477A>G (p.Tyr826Cys)
|
rs34617196
|
|
|
NM_020975.6(RET):c.2479C>G (p.Leu827Val)
|
rs1247476725
|
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
|
NM_020975.6(RET):c.2481G>A (p.Leu827=)
|
rs775022842
|
|
|
NM_020975.6(RET):c.2482G>A (p.Gly828Ser)
|
rs912196017
|
|
|
NM_020975.6(RET):c.2482G>C (p.Gly828Arg)
|
rs912196017
|
|
|
NM_020975.6(RET):c.2483G>T (p.Gly828Val)
|
rs1588877229
|
|
|
NM_020975.6(RET):c.2486G>A (p.Ser829Asn)
|
|
|
|
NM_020975.6(RET):c.2489G>A (p.Gly830Glu)
|
rs1159027752
|
|
|
NM_020975.6(RET):c.2492G>T (p.Gly831Val)
|
rs760924186
|
|
|
NM_020975.6(RET):c.2501A>C (p.Asn834Thr)
|
|
|
|
NM_020975.6(RET):c.2501A>G (p.Asn834Ser)
|
rs147433153
|
|
|
NM_020975.6(RET):c.2503T>G (p.Ser835Ala)
|
rs2132946807
|
|
|
NM_020975.6(RET):c.2507G>A (p.Ser836Asn)
|
rs1280808741
|
|
|
NM_020975.6(RET):c.2509T>G (p.Ser837Ala)
|
|
|
|
NM_020975.6(RET):c.2515G>A (p.Asp839Asn)
|
|
|
|
NM_020975.6(RET):c.2515G>C (p.Asp839His)
|
|
|
|
NM_020975.6(RET):c.2517C>G (p.Asp839Glu)
|
|
|
|
NM_020975.6(RET):c.2519A>C (p.His840Pro)
|
rs1588877283
|
|
|
NM_020975.6(RET):c.2519A>G (p.His840Arg)
|
rs1588877283
|
|
|
NM_020975.6(RET):c.2519A>T (p.His840Leu)
|
|
|
|
NM_020975.6(RET):c.2521C>T (p.Pro841Ser)
|
|
|
|
NM_020975.6(RET):c.2522C>A (p.Pro841Gln)
|
|
|
|
NM_020975.6(RET):c.2524G>A (p.Asp842Asn)
|
rs1838161318
|
|
|
NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln)
|
rs1838161569
|
|
|
NM_020975.6(RET):c.252C>G (p.Asn84Lys)
|
|
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
|
NM_020975.6(RET):c.2531G>T (p.Arg844Leu)
|
rs55947360
|
|
|
NM_020975.6(RET):c.2533G>T (p.Ala845Ser)
|
|
|
|
NM_020975.6(RET):c.2534C>T (p.Ala845Val)
|
|
|
|
NM_020975.6(RET):c.2536C>T (p.Leu846Phe)
|
|
|
|
NM_020975.6(RET):c.2542A>T (p.Met848Leu)
|
rs794728685
|
|
|
NM_020975.6(RET):c.2543T>A (p.Met848Lys)
|
rs201101792
|
|
|
NM_020975.6(RET):c.2543T>C (p.Met848Thr)
|
rs201101792
|
|
|
NM_020975.6(RET):c.2543T>G (p.Met848Arg)
|
|
|
|
NM_020975.6(RET):c.2549A>T (p.Asp850Val)
|
|
|
|
NM_020975.6(RET):c.2550C>G (p.Asp850Glu)
|
rs1838163222
|
|
|
NM_020975.6(RET):c.2551C>T (p.Leu851Phe)
|
rs1588877364
|
|
|
NM_020975.6(RET):c.2554A>T (p.Ile852Phe)
|
|
|
|
NM_020975.6(RET):c.2557T>C (p.Ser853Pro)
|
rs2132949563
|
|
|
NM_020975.6(RET):c.2561T>C (p.Phe854Ser)
|
rs1838163624
|
|
|
NM_020975.6(RET):c.2566T>C (p.Trp856Arg)
|
|
|
|
NM_020975.6(RET):c.2566T>G (p.Trp856Gly)
|
rs1838163811
|
|
|
NM_020975.6(RET):c.2571G>T (p.Gln857His)
|
rs1588877374
|
|
|
NM_020975.6(RET):c.2573T>C (p.Ile858Thr)
|
|
|
|
NM_020975.6(RET):c.2578C>G (p.Gln860Glu)
|
|
|
|
NM_020975.6(RET):c.2590T>C (p.Tyr864His)
|
|
|
|
NM_020975.6(RET):c.2596G>A (p.Ala866Thr)
|
rs1334494092
|
|
|
NM_020975.6(RET):c.2599G>A (p.Glu867Lys)
|
rs758950128
|
|
|
NM_020975.6(RET):c.25G>T (p.Ala9Ser)
|
|
|
|
NM_020975.6(RET):c.2604G>A (p.Met868Ile)
|
rs1838165300
|
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
|
NM_020975.6(RET):c.2608-3C>T
|
|
|
|
NM_020975.6(RET):c.260G>A (p.Cys87Tyr)
|
|
|
|
NM_020975.6(RET):c.2617C>A (p.Arg873=)
|
rs1838178513
|
|
|
NM_020975.6(RET):c.2623T>G (p.Leu875Val)
|
rs1588877642
|
|
|
NM_020975.6(RET):c.2629G>T (p.Ala877Ser)
|
|
|
|
NM_020975.6(RET):c.262A>C (p.Ile88Leu)
|
|
|
|
NM_020975.6(RET):c.2641C>G (p.Leu881Val)
|
rs377767427
|
|
|
NM_020975.6(RET):c.2644G>A (p.Val882Ile)
|
rs2132960093
|
|
|
NM_020975.6(RET):c.2647G>A (p.Ala883Thr)
|
rs377767428
|
|
|
NM_020975.6(RET):c.2647G>C (p.Ala883Pro)
|
|
|
|
NM_020975.6(RET):c.2648C>T (p.Ala883Val)
|
|
|
|
NM_020975.6(RET):c.2653G>T (p.Gly885Trp)
|
rs201487882
|
|
|
NM_020975.6(RET):c.2656C>G (p.Arg886Gly)
|
|
|
|
NM_020975.6(RET):c.265C>A (p.Gln89Lys)
|
rs2132663101
|
|
|
NM_020975.6(RET):c.2662A>G (p.Met888Val)
|
rs774930499
|
|
|
NM_020975.6(RET):c.2664G>A (p.Met888Ile)
|
|
|
|
NM_020975.6(RET):c.266A>G (p.Gln89Arg)
|
rs1564489449
|
|
|
NM_020975.6(RET):c.2686T>A (p.Ser896Thr)
|
rs2132962610
|
|
|
NM_020975.6(RET):c.2689C>G (p.Arg897Gly)
|
|
|
|
NM_020975.6(RET):c.2692G>C (p.Asp898His)
|
rs587780810
|
|
|
NM_020975.6(RET):c.2692G>T (p.Asp898Tyr)
|
rs587780810
|
|
|
NM_020975.6(RET):c.2694T>G (p.Asp898Glu)
|
rs1060500758
|
|
|
NM_020975.6(RET):c.2695G>A (p.Val899Ile)
|
|
|
|
NM_020975.6(RET):c.2699A>C (p.Tyr900Ser)
|
|
|
|
NM_020975.6(RET):c.269A>G (p.Glu90Gly)
|
|
|
|
NM_020975.6(RET):c.2705A>C (p.Glu902Ala)
|
rs2132963709
|
|
|
NM_020975.6(RET):c.2705A>G (p.Glu902Gly)
|
|
|
|
NM_020975.6(RET):c.2708A>G (p.Asp903Gly)
|
rs1423488525
|
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
|
NM_020975.6(RET):c.2711C>G (p.Ser904Cys)
|
rs267607011
|
|
|
NM_020975.6(RET):c.2711_2712delinsTG (p.Ser904Leu)
|
|
|
|
NM_020975.6(RET):c.2716G>A (p.Val906Met)
|
rs200627072
|
|
|
NM_020975.6(RET):c.2719A>C (p.Lys907Gln)
|
rs377767430
|
|
|
NM_020975.6(RET):c.271G>T (p.Asp91Tyr)
|
|
|
|
NM_020975.6(RET):c.2720A>T (p.Lys907Met)
|
rs377767431
|
|
|
NM_020975.6(RET):c.2723G>A (p.Arg908Lys)
|
rs753156691
|
|
|
NM_020975.6(RET):c.2730+16G>T
|
|
|
|
NM_020975.6(RET):c.2730+5C>T
|
rs864622296
|
|
|
NM_020975.6(RET):c.2734C>T (p.Arg912Trp)
|
rs1838227061
|
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
|
NM_020975.6(RET):c.274A>G (p.Thr92Ala)
|
rs1188786351
|
|
|
NM_020975.6(RET):c.2756C>A (p.Ala919Glu)
|
|
|
|
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)
|
rs377767432
|
|
|
NM_020975.6(RET):c.2765C>T (p.Ser922Phe)
|
rs377767432
|
|
|
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr)
|
rs1838228352
|
|
|
NM_020975.6(RET):c.2776C>T (p.His926Tyr)
|
rs774215008
|
|
|
NM_020975.6(RET):c.2778T>G (p.His926Gln)
|
rs1838228562
|
|
|
NM_020975.6(RET):c.2779A>C (p.Ile927Leu)
|
rs893151989
|
|
|
NM_020975.6(RET):c.2781C>G (p.Ile927Met)
|
rs1838228721
|
|
|
NM_020975.6(RET):c.2788A>G (p.Thr930Ala)
|
|
|
|
NM_020975.6(RET):c.2789C>T (p.Thr930Met)
|
rs1838228966
|
|
|
NM_020975.6(RET):c.278G>A (p.Gly93Asp)
|
|
|
|
NM_020975.6(RET):c.2791C>A (p.Gln931Lys)
|
|
|
|
NM_020975.6(RET):c.2801+3A>G
|
rs768284486
|
|
|
NM_020975.6(RET):c.2802-3C>A
|
rs754733091
|
|
|
NM_020975.6(RET):c.2802-9T>G
|
rs1588879476
|
|
|
NM_020975.6(RET):c.2802A>T (p.Val934=)
|
rs2133003717
|
|
|
NM_020975.6(RET):c.280C>G (p.Leu94Val)
|
rs1837621025
|
|
|
NM_020975.6(RET):c.2822T>C (p.Leu941Pro)
|
|
|
|
NM_020975.6(RET):c.2832C>G (p.Ile944Met)
|
rs755606269
|
|
|
NM_020975.6(RET):c.2834T>C (p.Val945Ala)
|
rs1408196943
|
|
|
NM_020975.6(RET):c.2843G>C (p.Gly948Ala)
|
|
|
|
NM_020975.6(RET):c.2846G>T (p.Gly949Val)
|
|
|
|
NM_020975.6(RET):c.2848A>C (p.Asn950His)
|
|
|
|
NM_020975.6(RET):c.2866C>T (p.Pro956Ser)
|
|
|
|
NM_020975.6(RET):c.2867C>T (p.Pro956Leu)
|
rs1838269153
|
|
|
NM_020975.6(RET):c.2872G>C (p.Glu958Gln)
|
|
|
|
NM_020975.6(RET):c.2875C>G (p.Arg959Gly)
|
|
|
|
NM_020975.6(RET):c.2890C>G (p.Leu964Val)
|
rs533682776
|
|
|
NM_020975.6(RET):c.289C>G (p.Leu97Val)
|
|
|
|
NM_020975.6(RET):c.28G>A (p.Gly10Arg)
|
|
|
|
NM_020975.6(RET):c.2900G>A (p.Gly967Asp)
|
rs1838270446
|
|
|
NM_020975.6(RET):c.2906G>A (p.Arg969Gln)
|
|
|
|
NM_020975.6(RET):c.2923A>T (p.Asn975Tyr)
|
rs1194221807
|
|
|
NM_020975.6(RET):c.2931C>T (p.Ser977=)
|
rs375414982
|
|
|
NM_020975.6(RET):c.2932G>C (p.Glu978Gln)
|
|
|
|
NM_020975.6(RET):c.2939+3G>A
|
rs2133007253
|
|
|
NM_020975.6(RET):c.2939+3G>C
|
rs2133007253
|
|
|
NM_020975.6(RET):c.2939+4_2939+5del
|
|
|
|
NM_020975.6(RET):c.2940-3C>T
|
|
|
|
NM_020975.6(RET):c.2940G>A (p.Met980Ile)
|
|
|
|
NM_020975.6(RET):c.2944C>A (p.Arg982Ser)
|
|
|
|
NM_020975.6(RET):c.2945G>T (p.Arg982Leu)
|
rs368550200
|
|
|
NM_020975.6(RET):c.2952G>A (p.Met984Ile)
|
|
|
|
NM_020975.6(RET):c.2954T>G (p.Leu985Arg)
|
rs1240309421
|
|
|
NM_020975.6(RET):c.295C>T (p.Arg99Trp)
|
rs1333641674
|
|
|
NM_020975.6(RET):c.2965A>G (p.Lys989Glu)
|
rs1554820052
|
|
|
NM_020975.6(RET):c.2967G>T (p.Lys989Asn)
|
rs2133016421
|
|
|
NM_020975.6(RET):c.2971_2972delinsAG (p.Glu991Arg)
|
|
|
|
NM_020975.6(RET):c.2975C>A (p.Pro992Gln)
|
|
|
|
NM_020975.6(RET):c.2975C>G (p.Pro992Arg)
|
|
|
|
NM_020975.6(RET):c.2975C>T (p.Pro992Leu)
|
rs758191409
|
|
|
NM_020975.6(RET):c.2980A>C (p.Lys994Gln)
|
rs1490223704
|
|
|
NM_020975.6(RET):c.2980A>G (p.Lys994Glu)
|
rs1490223704
|
|
|
NM_020975.6(RET):c.2987C>T (p.Pro996Leu)
|
rs1588880114
|
|
|
NM_020975.6(RET):c.2989G>T (p.Val997Leu)
|
|
|
|
NM_020975.6(RET):c.2992T>G (p.Phe998Val)
|
rs2133017302
|
|
|
NM_020975.6(RET):c.2995G>A (p.Ala999Thr)
|
rs1363037947
|
|
|
NM_020975.6(RET):c.2996C>G (p.Ala999Gly)
|
|
|
|
NM_020975.6(RET):c.2998G>A (p.Asp1000Asn)
|
rs2133017433
|
|
|
NM_020975.6(RET):c.2999A>G (p.Asp1000Gly)
|
|
|
|
NM_020975.6(RET):c.299G>A (p.Ser100Asn)
|
rs1554817407
|
|
|
NM_020975.6(RET):c.29G>A (p.Gly10Glu)
|
rs1303812507
|
|
|
NM_020975.6(RET):c.29G>C (p.Gly10Ala)
|
rs1303812507
|
|
|
NM_020975.6(RET):c.29G>T (p.Gly10Val)
|
rs1303812507
|
|
|
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)
|
|
|
|
NM_020975.6(RET):c.3007A>C (p.Lys1003Gln)
|
rs1392503702
|
|
|
NM_020975.6(RET):c.3007A>G (p.Lys1003Glu)
|
rs1392503702
|
|
|
NM_020975.6(RET):c.3011A>G (p.Asp1004Gly)
|
rs1328724775
|
|
|
NM_020975.6(RET):c.3017A>G (p.Glu1006Gly)
|
|
|
|
NM_020975.6(RET):c.3018G>C (p.Glu1006Asp)
|
|
|
|
NM_020975.6(RET):c.3019A>G (p.Lys1007Glu)
|
rs774840230
|
|
|
NM_020975.6(RET):c.3020A>T (p.Lys1007Met)
|
|
|
|
NM_020975.6(RET):c.3021G>C (p.Lys1007Asn)
|
rs786204098
|
|
|
NM_020975.6(RET):c.3021G>T (p.Lys1007Asn)
|
rs786204098
|
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
|
NM_020975.6(RET):c.3026T>A (p.Met1009Lys)
|
rs375213011
|
|
|
NM_020975.6(RET):c.3026T>G (p.Met1009Arg)
|
|
|
|
NM_020975.6(RET):c.3028G>T (p.Val1010Phe)
|
rs1554820081
|
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
|
NM_020975.6(RET):c.3033GAG[1] (p.Arg1013del)
|
rs1838299309
|
|
|
NM_020975.6(RET):c.3038G>A (p.Arg1013Lys)
|
rs1838299542
|
|
|
NM_020975.6(RET):c.3038G>C (p.Arg1013Thr)
|
rs1838299542
|
|
|
NM_020975.6(RET):c.3039+11_3039+12delinsTC
|
|
|
|
NM_020975.6(RET):c.3040-3C>T
|
|
|
|
NM_020975.6(RET):c.3043T>C (p.Tyr1015His)
|
|
|
|
NM_020975.6(RET):c.3043T>G (p.Tyr1015Asp)
|
|
|
|
NM_020975.6(RET):c.3046T>A (p.Leu1016Met)
|
rs2133032658
|
|
|
NM_020975.6(RET):c.3048G>C (p.Leu1016Phe)
|
|
|
|
NM_020975.6(RET):c.3049G>A (p.Asp1017Asn)
|
rs1554820153
|
|
|
NM_020975.6(RET):c.304G>C (p.Asp102His)
|
|
|
|
NM_020975.6(RET):c.3050A>G (p.Asp1017Gly)
|
rs762414334
|
|
|
NM_020975.6(RET):c.3051C>A (p.Asp1017Glu)
|
|
|
|
NM_020975.6(RET):c.3052C>A (p.Leu1018Ile)
|
rs766330880
|
|
|
NM_020975.6(RET):c.3053T>G (p.Leu1018Arg)
|
|
|
|
NM_020975.6(RET):c.3056C>G (p.Ala1019Gly)
|
rs1371891301
|
|
|
NM_020975.6(RET):c.3056C>T (p.Ala1019Val)
|
rs1371891301
|
|
|
NM_020975.6(RET):c.3058G>C (p.Ala1020Pro)
|
|
|
|
NM_020975.6(RET):c.3060_3062del (p.Ser1021del)
|
rs1564501844
|
|
|
NM_020975.6(RET):c.3064A>G (p.Thr1022Ala)
|
|
|
|
NM_020975.6(RET):c.3068C>T (p.Pro1023Leu)
|
rs138912894
|
|
|
NM_020975.6(RET):c.3071C>G (p.Ser1024Cys)
|
|
|
|
NM_020975.6(RET):c.3076T>C (p.Ser1026Pro)
|
rs1588880990
|
|
|
NM_020975.6(RET):c.3076T>G (p.Ser1026Ala)
|
|
|
|
NM_020975.6(RET):c.3077C>A (p.Ser1026Tyr)
|
rs1588880993
|
|
|
NM_020975.6(RET):c.3077C>T (p.Ser1026Phe)
|
rs1588880993
|
|
|
NM_020975.6(RET):c.3079C>A (p.Leu1027Met)
|
|
|
|
NM_020975.6(RET):c.3079C>G (p.Leu1027Val)
|
rs1564501868
|
|
|
NM_020975.6(RET):c.307C>T (p.His103Tyr)
|
rs1217820916
|
|
|
NM_020975.6(RET):c.3089ACG[1] (p.Asp1031del)
|
rs1260448063
|
|
|
NM_020975.6(RET):c.3090C>A (p.Asp1030Glu)
|
|
|
|
NM_020975.6(RET):c.3094G>T (p.Gly1032Cys)
|
rs757373375
|
|
|
NM_020975.6(RET):c.3095G>A (p.Gly1032Asp)
|
rs1838335979
|
|
|
NM_020975.6(RET):c.3097C>T (p.Leu1033Phe)
|
|
|
|
NM_020975.6(RET):c.30G>T (p.Gly10=)
|
rs1050242868
|
|
|
NM_020975.6(RET):c.3106G>A (p.Glu1036Lys)
|
rs1838336457
|
|
|
NM_020975.6(RET):c.3106G>C (p.Glu1036Gln)
|
|
|
|
NM_020975.6(RET):c.3112A>T (p.Thr1038Ser)
|
rs201740483
|
|
|
NM_020975.6(RET):c.3115C>A (p.Pro1039Thr)
|
rs2133035293
|
|
|
NM_020975.6(RET):c.3115C>G (p.Pro1039Ala)
|
rs2133035293
|
|
|
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln)
|
rs79853121
|
|
|
NM_020975.6(RET):c.3116C>G (p.Pro1039Arg)
|
|
|
|
NM_020975.6(RET):c.3118C>G (p.Leu1040Val)
|
|
|
|
NM_020975.6(RET):c.3121G>A (p.Val1041Met)
|
|
|
|
NM_020975.6(RET):c.3121G>T (p.Val1041Leu)
|
rs2133035526
|
|
|
NM_020975.6(RET):c.3122T>C (p.Val1041Ala)
|
rs1554820165
|
|
|
NM_020975.6(RET):c.3126C>A (p.Asp1042Glu)
|
|
|
|
NM_020975.6(RET):c.3126C>G (p.Asp1042Glu)
|
rs1554820168
|
|
|
NM_020975.6(RET):c.3127T>G (p.Cys1043Gly)
|
rs1367574614
|
|
|
NM_020975.6(RET):c.3128G>A (p.Cys1043Tyr)
|
|
|
|
NM_020975.6(RET):c.3132T>G (p.Asn1044Lys)
|
|
|
|
NM_020975.6(RET):c.3133A>G (p.Asn1045Asp)
|
|
|
|
NM_020975.6(RET):c.3133A>T (p.Asn1045Tyr)
|
|
|
|
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp)
|
rs945693739
|
|
|
NM_020975.6(RET):c.3137C>T (p.Ala1046Val)
|
|
|
|
NM_020975.6(RET):c.3138_3139delinsTT (p.Pro1047Ser)
|
rs1838338388
|
|
|
NM_020975.6(RET):c.3142C>G (p.Leu1048Val)
|
rs774347808
|
|
|
NM_020975.6(RET):c.3145C>T (p.Pro1049Ser)
|
rs1588881090
|
|
|
NM_020975.6(RET):c.3146C>G (p.Pro1049Arg)
|
|
|
|
NM_020975.6(RET):c.3146C>T (p.Pro1049Leu)
|
rs1490712863
|
|
|
NM_020975.6(RET):c.3149G>T (p.Arg1050Leu)
|
|
|
|
NM_020975.6(RET):c.3149_3150delinsCT (p.Arg1050Pro)
|
|
|
|
NM_020975.6(RET):c.314C>T (p.Ser105Phe)
|
rs1588862705
|
|
|
NM_020975.6(RET):c.3151G>A (p.Ala1051Thr)
|
rs2133036726
|
|
|
NM_020975.6(RET):c.3152C>T (p.Ala1051Val)
|
rs1564501944
|
|
|
NM_020975.6(RET):c.3154C>G (p.Leu1052Val)
|
rs1564501947
|
|
|
NM_020975.6(RET):c.3155T>C (p.Leu1052Pro)
|
rs2133036884
|
|
|
NM_020975.6(RET):c.3157C>A (p.Pro1053Thr)
|
rs754066766
|
|
|
NM_020975.6(RET):c.3157C>T (p.Pro1053Ser)
|
|
|
|
NM_020975.6(RET):c.3158C>T (p.Pro1053Leu)
|
|
|
|
NM_020975.6(RET):c.3163A>C (p.Thr1055Pro)
|
rs1439440590
|
|
|
NM_020975.6(RET):c.3167G>A (p.Trp1056Ter)
|
rs1425454966
|
|
|
NM_020975.6(RET):c.3168G>C (p.Trp1056Cys)
|
|
|
|
NM_020975.6(RET):c.3169A>G (p.Ile1057Val)
|
rs750501039
|
|
|
NM_020975.6(RET):c.3169A>T (p.Ile1057Phe)
|
|
|
|
NM_020975.6(RET):c.3170T>A (p.Ile1057Asn)
|
|
|
|
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr)
|
rs758877145
|
|
|
NM_020975.6(RET):c.3172G>A (p.Glu1058Lys)
|
rs1838340845
|
|
|
NM_020975.6(RET):c.3173A>C (p.Glu1058Ala)
|
|
|
|
NM_020975.6(RET):c.3173A>G (p.Glu1058Gly)
|
rs780578577
|
|
|
NM_020975.6(RET):c.3173A>T (p.Glu1058Val)
|
rs780578577
|
|
|
NM_020975.6(RET):c.3175A>C (p.Asn1059His)
|
rs1055571837
|
|
|
NM_020975.6(RET):c.3175A>G (p.Asn1059Asp)
|
rs1055571837
|
|
|
NM_020975.6(RET):c.3176A>T (p.Asn1059Ile)
|
rs772395752
|
|
|
NM_020975.6(RET):c.3177C>A (p.Asn1059Lys)
|
rs1014122393
|
|
|
NM_020975.6(RET):c.3177C>G (p.Asn1059Lys)
|
rs1014122393
|
|
|
NM_020975.6(RET):c.3180A>C (p.Lys1060Asn)
|
rs1361161086
|
|
|
NM_020975.6(RET):c.3180A>T (p.Lys1060Asn)
|
rs1361161086
|
|
|
NM_020975.6(RET):c.3182T>A (p.Leu1061His)
|
|
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
|
NM_020975.6(RET):c.3182T>G (p.Leu1061Arg)
|
rs536486113
|
|
|
NM_020975.6(RET):c.3183C>G (p.Leu1061=)
|
rs2133037902
|
|
|
NM_020975.6(RET):c.3184T>A (p.Tyr1062Asn)
|
rs138010639
|
|
|
NM_020975.6(RET):c.3184T>G (p.Tyr1062Asp)
|
rs138010639
|
|
|
NM_020975.6(RET):c.3185A>C (p.Tyr1062Ser)
|
|
|
|
NM_020975.6(RET):c.3187+15_3187+16delinsTT
|
|
|
|
NM_020975.6(RET):c.3187+1G>C
|
|
|
|
NM_020975.6(RET):c.3187+3A>G
|
|
|
|
NM_020975.6(RET):c.3187+4G>T
|
|
|
|
NM_020975.6(RET):c.3187+5A>C
|
rs1457645623
|
|
|
NM_020975.6(RET):c.3187+6A>G
|
|
|
|
NM_020975.6(RET):c.3187G>A (p.Gly1063Ser)
|
rs1564502015
|
|
|
NM_020975.6(RET):c.3187G>C (p.Gly1063Arg)
|
rs1564502015
|
|
|
NM_020975.6(RET):c.3188-1G>C
|
rs1588881837
|
|
|
NM_020975.6(RET):c.3188-2A>G
|
rs1554820302
|
|
|
NM_020975.6(RET):c.3188-3T>C
|
rs2133047522
|
|
|
NM_020975.6(RET):c.3188-3del
|
rs1838373407
|
|
|
NM_020975.6(RET):c.3190A>C (p.Met1064Leu)
|
|
|
|
NM_020975.6(RET):c.3196G>A (p.Asp1066Asn)
|
rs180700967
|
|
|
NM_020975.6(RET):c.319G>A (p.Glu107Lys)
|
rs1025290394
|
|
|
NM_020975.6(RET):c.31C>G (p.Leu11Val)
|
rs587780812
|
|
|
NM_020975.6(RET):c.3203del (p.Asn1068fs)
|
rs878855063
|
|
|
NM_020975.6(RET):c.3204C>A (p.Asn1068Lys)
|
|
|
|
NM_020975.6(RET):c.3209C>G (p.Pro1070Arg)
|
|
|
|
NM_020975.6(RET):c.320A>G (p.Glu107Gly)
|
rs2132665054
|
|
|
NM_020975.6(RET):c.3211G>A (p.Gly1071Arg)
|
rs1321512022
|
|
|
NM_020975.6(RET):c.3214G>C (p.Glu1072Gln)
|
|
|
|
NM_020975.6(RET):c.3215A>G (p.Glu1072Gly)
|
|
|
|
NM_020975.6(RET):c.3217_3218dup (p.Ser1073fs)
|
rs1428704590
|
|
|
NM_020975.6(RET):c.3219T>A (p.Ser1073Arg)
|
rs1838374750
|
|
|
NM_020975.6(RET):c.3222dup (p.Val1075fs)
|
rs1838374810
|
|
|
NM_020975.6(RET):c.3223G>A (p.Val1075Ile)
|
|
|
|
NM_020975.6(RET):c.3223G>C (p.Val1075Leu)
|
|
|
|
NM_020975.6(RET):c.3226C>T (p.Pro1076Ser)
|
rs2133048192
|
|
|
NM_020975.6(RET):c.3230T>C (p.Leu1077Pro)
|
|
|
|
NM_020975.6(RET):c.3233C>G (p.Thr1078Arg)
|
rs762952212
|
|
|
NM_020975.6(RET):c.3241G>A (p.Asp1081Asn)
|
rs745955777
|
|
|
NM_020975.6(RET):c.3245G>A (p.Gly1082Asp)
|
rs1554820310
|
|
|
NM_020975.6(RET):c.3247A>G (p.Thr1083Ala)
|
rs878855064
|
|
|
NM_020975.6(RET):c.3247_3254del (p.Thr1083fs)
|
rs1838375749
|
|
|
NM_020975.6(RET):c.3265A>G (p.Arg1089Gly)
|
rs864622486
|
|
|
NM_020975.6(RET):c.3266G>A (p.Arg1089Lys)
|
|
|
|
NM_020975.6(RET):c.3266G>T (p.Arg1089Ile)
|
rs1245283352
|
|
|
NM_020975.6(RET):c.3271C>A (p.Pro1091Thr)
|
rs1564502605
|
|
|
NM_020975.6(RET):c.3275A>G (p.Asn1092Ser)
|
rs757852794
|
|
|
NM_020975.6(RET):c.3277G>A (p.Asp1093Asn)
|
rs1838376422
|
|
|
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)
|
rs1564502609
|
|
|
NM_020975.6(RET):c.3280A>C (p.Ser1094Arg)
|
rs1171787901
|
|
|
NM_020975.6(RET):c.3281G>T (p.Ser1094Ile)
|
|
|
|
NM_020975.6(RET):c.3283G>A (p.Val1095Ile)
|
|
|
|
NM_020975.6(RET):c.3284T>A (p.Val1095Glu)
|
|
|
|
NM_020975.6(RET):c.3294C>A (p.Asn1098Lys)
|
rs1298393691
|
|
|
NM_020975.6(RET):c.3298A>G (p.Met1100Val)
|
rs2133049527
|
|
|
NM_020975.6(RET):c.3299T>C (p.Met1100Thr)
|
|
|
|
NM_020975.6(RET):c.329G>A (p.Ser110Asn)
|
rs764421264
|
|
|
NM_020975.6(RET):c.3300G>C (p.Met1100Ile)
|
rs747917164
|
|
|
NM_020975.6(RET):c.3302T>C (p.Leu1101Pro)
|
|
|
|
NM_020975.6(RET):c.3305C>T (p.Ser1102Leu)
|
rs773306778
|
|
|
NM_020975.6(RET):c.3310T>C (p.Ser1104Pro)
|
|
|
|
NM_020975.6(RET):c.3311C>T (p.Ser1104Leu)
|
rs1838377764
|
|
|
NM_020975.6(RET):c.3316G>A (p.Ala1106Thr)
|
rs1838377953
|
|
|
NM_020975.6(RET):c.3322T>G (p.Leu1108Val)
|
|
|
|
NM_020975.6(RET):c.3325A>G (p.Met1109Val)
|
|
|
|
NM_020975.6(RET):c.3337G>A (p.Asp1113Asn)
|
rs1838378725
|
|
|
NM_020975.6(RET):c.3340A>T (p.Ser1114Cys)
|
|
|
|
NM_020975.6(RET):c.3342T>G (p.Ser1114Arg)
|
rs2133050305
|
|
|
NM_020975.6(RET):c.335G>T (p.Arg112Leu)
|
|
|
|
NM_020975.6(RET):c.336C>A (p.Arg112=)
|
|
|
|
NM_020975.6(RET):c.336C>T (p.Arg112=)
|
|
|
|
NM_020975.6(RET):c.337+6G>A
|
|
|
|
NM_020975.6(RET):c.337+8_337+9delinsTA
|
|
|
|
NM_020975.6(RET):c.337A>G (p.Asn113Asp)
|
|
|
|
NM_020975.6(RET):c.338-9T>A
|
|
|
|
NM_020975.6(RET):c.339C>A (p.Asn113Lys)
|
|
|
|
NM_020975.6(RET):c.341G>T (p.Arg114Leu)
|
|
|
|
NM_020975.6(RET):c.343G>A (p.Gly115Ser)
|
rs1588863889
|
|
|
NM_020975.6(RET):c.346T>A (p.Phe116Ile)
|
rs1439820916
|
|
|
NM_020975.6(RET):c.346T>C (p.Phe116Leu)
|
|
|
|
NM_020975.6(RET):c.349C>G (p.Pro117Ala)
|
|
|
|
NM_020975.6(RET):c.349C>T (p.Pro117Ser)
|
rs868523779
|
|
|
NM_020975.6(RET):c.34C>G (p.Arg12Gly)
|
rs2132498232
|
|
|
NM_020975.6(RET):c.34C>T (p.Arg12Cys)
|
|
|
|
NM_020975.6(RET):c.350C>G (p.Pro117Arg)
|
rs763295929
|
|
|
NM_020975.6(RET):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_020975.6(RET):c.35G>A (p.Arg12His)
|
rs2132498277
|
|
|
NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu)
|
rs1837065209
|
|
|
NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu)
|
rs1467944441
|
|
|
NM_020975.6(RET):c.367C>A (p.Leu123Ile)
|
|
|
|
NM_020975.6(RET):c.371A>G (p.Lys124Arg)
|
rs773868504
|
|
|
NM_020975.6(RET):c.372G>C (p.Lys124Asn)
|
rs2132678369
|
|
|
NM_020975.6(RET):c.376T>C (p.Phe126Leu)
|
rs2132678531
|
|
|
NM_020975.6(RET):c.379C>A (p.Leu127Met)
|
|
|
|
NM_020975.6(RET):c.385C>G (p.Pro129Ala)
|
rs2132678836
|
|
|
NM_020975.6(RET):c.388A>G (p.Thr130Ala)
|
rs1588863938
|
|
|
NM_020975.6(RET):c.394C>A (p.Leu132Ile)
|
rs1554817540
|
|
|
NM_020975.6(RET):c.394C>G (p.Leu132Val)
|
rs1554817540
|
|
|
NM_020975.6(RET):c.394C>T (p.Leu132Phe)
|
rs1554817540
|
|
|
NM_020975.6(RET):c.395T>G (p.Leu132Arg)
|
|
|
|
NM_020975.6(RET):c.398G>C (p.Arg133Pro)
|
rs138265837
|
|
|
NM_020975.6(RET):c.398G>T (p.Arg133Leu)
|
|
|
|
NM_020975.6(RET):c.400G>A (p.Glu134Lys)
|
rs2132679409
|
|
|
NM_020975.6(RET):c.407A>G (p.Glu136Gly)
|
|
|
|
NM_020975.6(RET):c.40_41insGGTTGC (p.Leu13_Leu14insArgLeu)
|
rs1157129061
|
|
|
NM_020975.6(RET):c.418C>G (p.Pro140Ala)
|
|
|
|
NM_020975.6(RET):c.41T>C (p.Leu14Pro)
|
rs2132498406
|
|
|
NM_020975.6(RET):c.421G>A (p.Gly141Ser)
|
|
|
|
NM_020975.6(RET):c.422G>C (p.Gly141Ala)
|
rs770840152
|
|
|
NM_020975.6(RET):c.428C>T (p.Ala143Val)
|
rs1564490082
|
|
|
NM_020975.6(RET):c.436T>C (p.Tyr146His)
|
|
|
|
NM_020975.6(RET):c.43_44insGGC (p.Leu14_Leu15insTrp)
|
rs2132498515
|
|
|
NM_020975.6(RET):c.43_48dup (p.Leu19_Pro20insLeuLeu)
|
|
|
|
NM_020975.6(RET):c.43_51del (p.Leu17_Leu19del)
|
rs1488217326
|
|
|
NM_020975.6(RET):c.43_51dup (p.Leu19_Pro20insLeuLeuLeu)
|
rs1488217326
|
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
|
NM_020975.6(RET):c.443_445del (p.Ser148del)
|
|
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
|
NM_020975.6(RET):c.44T>C (p.Leu15Ser)
|
rs2132498541
|
|
|
NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del)
|
rs768132465
|
|
|
NM_020975.6(RET):c.44TGC[4] (p.Leu19del)
|
rs768132465
|
|
|
NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu)
|
rs768132465
|
|
|
NM_020975.6(RET):c.44TGC[7] (p.Leu19_Pro20insLeuLeu)
|
rs768132465
|
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
|
NM_020975.6(RET):c.454A>G (p.Thr152Ala)
|
|
|
|
NM_020975.6(RET):c.455C>T (p.Thr152Ile)
|
rs1837661343
|
|
|
NM_020975.6(RET):c.457T>A (p.Ser153Thr)
|
rs1341922880
|
|
|
NM_020975.6(RET):c.458C>A (p.Ser153Tyr)
|
|
|
|
NM_020975.6(RET):c.467C>T (p.Ala156Val)
|
rs1588864039
|
|
|
NM_020975.6(RET):c.475T>A (p.Ser159Thr)
|
rs2132681533
|
|
|
NM_020975.6(RET):c.478C>T (p.Leu160Phe)
|
rs747536732
|
|
|
NM_020975.6(RET):c.47T>A (p.Leu16Gln)
|
rs1564480893
|
|
|
NM_020975.6(RET):c.483G>T (p.Lys161Asn)
|
|
|
|
NM_020975.6(RET):c.484C>A (p.Pro162Thr)
|
rs1564490122
|
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
|
NM_020975.6(RET):c.485C>A (p.Pro162His)
|
rs1205703835
|
|
|
NM_020975.6(RET):c.485C>G (p.Pro162Arg)
|
|
|
|
NM_020975.6(RET):c.487C>T (p.Arg163Trp)
|
rs371153966
|
|
|
NM_020975.6(RET):c.503C>T (p.Pro168Leu)
|
|
|
|
NM_020975.6(RET):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_020975.6(RET):c.505G>C (p.Glu169Gln)
|
|
|
|
NM_020975.6(RET):c.507G>C (p.Glu169Asp)
|
|
|
|
NM_020975.6(RET):c.50T>C (p.Leu17Pro)
|
rs1837066964
|
|
|
NM_020975.6(RET):c.523C>G (p.Arg175Gly)
|
rs1057521088
|
|
|
NM_020975.6(RET):c.523C>T (p.Arg175Cys)
|
rs1057521088
|
|
|
NM_020975.6(RET):c.524G>A (p.Arg175His)
|
rs774097284
|
|
|
NM_020975.6(RET):c.524G>T (p.Arg175Leu)
|
|
|
|
NM_020975.6(RET):c.525_530dup (p.Arg177_Glu178insIleArg)
|
|
|
|
NM_020975.6(RET):c.526A>T (p.Ile176Phe)
|
rs1588864080
|
|
|
NM_020975.6(RET):c.535A>G (p.Asn179Asp)
|
rs2132682955
|
|
|
NM_020975.6(RET):c.536A>G (p.Asn179Ser)
|
rs1060500757
|
|
|
NM_020975.6(RET):c.53T>C (p.Leu18Pro)
|
rs2132498957
|
|
|
NM_020975.6(RET):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_020975.6(RET):c.544C>T (p.Pro182Ser)
|
rs775086466
|
|
|
NM_020975.6(RET):c.550A>G (p.Thr184Ala)
|
rs753301491
|
|
|
NM_020975.6(RET):c.551C>T (p.Thr184Ile)
|
rs1837665130
|
|
|
NM_020975.6(RET):c.553T>C (p.Phe185Leu)
|
rs1048022444
|
|
|
NM_020975.6(RET):c.555C>A (p.Phe185Leu)
|
|
|
|
NM_020975.6(RET):c.559C>G (p.Gln187Glu)
|
|
|
|
NM_020975.6(RET):c.560A>G (p.Gln187Arg)
|
|
|
|
NM_020975.6(RET):c.561G>C (p.Gln187His)
|
rs764162555
|
|
|
NM_020975.6(RET):c.561G>T (p.Gln187His)
|
|
|
|
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
|
|
|
|
NM_020975.6(RET):c.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
|
NM_020975.6(RET):c.566G>A (p.Arg189His)
|
rs753707182
|
|
|
NM_020975.6(RET):c.566G>T (p.Arg189Leu)
|
rs753707182
|
|
|
NM_020975.6(RET):c.569TGC[1] (p.Leu191del)
|
rs2132683821
|
|
|
NM_020975.6(RET):c.56T>C (p.Leu19Pro)
|
|
|
|
NM_020975.6(RET):c.572T>A (p.Leu191Gln)
|
|
|
|
NM_020975.6(RET):c.572T>C (p.Leu191Pro)
|
|
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
|
NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu)
|
rs878855065
|
|
|
NM_020975.6(RET):c.582G>C (p.Gln194His)
|
rs368116579
|
|
|
NM_020975.6(RET):c.588G>C (p.Leu196Phe)
|
rs2132684107
|
|
|
NM_020975.6(RET):c.58C>T (p.Pro20Ser)
|
rs1205904653
|
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
|
NM_020975.6(RET):c.593C>T (p.Pro198Leu)
|
|
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
|
NM_020975.6(RET):c.59C>G (p.Pro20Arg)
|
rs1837067697
|
|
|
NM_020975.6(RET):c.59C>T (p.Pro20Leu)
|
rs1837067697
|
|
|
NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro)
|
rs1064796534
|
|
|
NM_020975.6(RET):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)
|
rs1837063549
|
|
|
NM_020975.6(RET):c.60_65del (p.Leu21_Leu22del)
|
rs1837067951
|
|
|
NM_020975.6(RET):c.610T>A (p.Tyr204Asn)
|
|
|
|
NM_020975.6(RET):c.613A>G (p.Arg205Gly)
|
rs1564490234
|
|
|
NM_020975.6(RET):c.613A>T (p.Arg205Trp)
|
rs1564490234
|
|
|
NM_020975.6(RET):c.614G>A (p.Arg205Lys)
|
rs1177806121
|
|
|
NM_020975.6(RET):c.614G>T (p.Arg205Met)
|
rs1177806121
|
|
|
NM_020975.6(RET):c.615G>C (p.Arg205Ser)
|
|
|
|
NM_020975.6(RET):c.616C>T (p.Leu206Phe)
|
|
|
|
NM_020975.6(RET):c.622G>C (p.Glu208Gln)
|
rs1588864215
|
|
|
NM_020975.6(RET):c.623A>C (p.Glu208Ala)
|
rs1170238577
|
|
|
NM_020975.6(RET):c.626G>A (p.Gly209Asp)
|
rs1837727267
|
|
|
NM_020975.6(RET):c.632G>A (p.Gly211Asp)
|
rs1060500756
|
|
|
NM_020975.6(RET):c.634C>G (p.Leu212Val)
|
|
|
|
NM_020975.6(RET):c.635T>C (p.Leu212Pro)
|
|
|
|
NM_020975.6(RET):c.637C>T (p.Pro213Ser)
|
rs1837727684
|
|
|
NM_020975.6(RET):c.638C>A (p.Pro213His)
|
rs1313234246
|
|
|
NM_020975.6(RET):c.638C>G (p.Pro213Arg)
|
rs1313234246
|
|
|
NM_020975.6(RET):c.640T>G (p.Phe214Val)
|
|
|
|
NM_020975.6(RET):c.643C>T (p.Arg215Cys)
|
|
|
|
NM_020975.6(RET):c.644G>A (p.Arg215His)
|
rs748128929
|
|
|
NM_020975.6(RET):c.644G>T (p.Arg215Leu)
|
rs748128929
|
|
|
NM_020975.6(RET):c.645C>G (p.Arg215=)
|
rs1837728202
|
|
|
NM_020975.6(RET):c.646T>C (p.Cys216Arg)
|
rs1837728315
|
|
|
NM_020975.6(RET):c.647G>A (p.Cys216Tyr)
|
|
|
|
NM_020975.6(RET):c.649G>A (p.Ala217Thr)
|
rs1259626672
|
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
|
NM_020975.6(RET):c.650C>T (p.Ala217Val)
|
rs1060500754
|
|
|
NM_020975.6(RET):c.652C>G (p.Pro218Ala)
|
|
|
|
NM_020975.6(RET):c.653C>G (p.Pro218Arg)
|
|
|
|
NM_020975.6(RET):c.657C>G (p.Asp219Glu)
|
rs1837729196
|
|
|
NM_020975.6(RET):c.659G>C (p.Ser220Thr)
|
|
|
|
NM_020975.6(RET):c.659G>T (p.Ser220Ile)
|
rs1182941467
|
|
|
NM_020975.6(RET):c.664G>A (p.Glu222Lys)
|
rs1837729713
|
|
|
NM_020975.6(RET):c.670A>T (p.Ser224Cys)
|
|
|
|
NM_020975.6(RET):c.671G>C (p.Ser224Thr)
|
rs1837729986
|
|
|
NM_020975.6(RET):c.674C>T (p.Thr225Met)
|
|
|
|
NM_020975.6(RET):c.675_676delinsTT (p.Arg226Cys)
|
|
|
|
NM_020975.6(RET):c.676C>G (p.Arg226Gly)
|
|
|
|
NM_020975.6(RET):c.676C>T (p.Arg226Cys)
|
rs1455266037
|
|
|
NM_020975.6(RET):c.67G>A (p.Gly23Ser)
|
|
|
|
NM_020975.6(RET):c.682G>A (p.Ala228Thr)
|
rs760813493
|
|
|
NM_020975.6(RET):c.682G>T (p.Ala228Ser)
|
rs760813493
|
|
|
NM_020975.6(RET):c.683C>A (p.Ala228Asp)
|
rs2132704146
|
|
|
NM_020975.6(RET):c.68G>A (p.Gly23Asp)
|
rs1554815546
|
|
|
NM_020975.6(RET):c.68G>T (p.Gly23Val)
|
rs1554815546
|
|
|
NM_020975.6(RET):c.697C>G (p.Gln233Glu)
|
|
|
|
NM_020975.6(RET):c.698A>T (p.Gln233Leu)
|
|
|
|
NM_020975.6(RET):c.699G>T (p.Gln233His)
|
rs786203642
|
|
|
NM_020975.6(RET):c.69C>T (p.Gly23=)
|
rs2132499469
|
|
|
NM_020975.6(RET):c.700C>G (p.Arg234Gly)
|
|
|
|
NM_020975.6(RET):c.700C>T (p.Arg234Trp)
|
rs2132704554
|
|
|
NM_020975.6(RET):c.712G>A (p.Glu238Lys)
|
rs1588866040
|
|
|
NM_020975.6(RET):c.714G>T (p.Glu238Asp)
|
rs1588866043
|
|
|
NM_020975.6(RET):c.715C>G (p.Leu239Val)
|
rs1837732123
|
|
|
NM_020975.6(RET):c.716T>C (p.Leu239Pro)
|
|
|
|
NM_020975.6(RET):c.724G>C (p.Val242Leu)
|
|
|
|
NM_020975.6(RET):c.73+3G>A
|
|
|
|
NM_020975.6(RET):c.731C>A (p.Thr244Asn)
|
|
|
|
NM_020975.6(RET):c.733G>A (p.Val245Met)
|
rs1837733068
|
|
|
NM_020975.6(RET):c.733G>T (p.Val245Leu)
|
|
|
|
NM_020975.6(RET):c.734T>G (p.Val245Gly)
|
|
|
|
NM_020975.6(RET):c.736C>T (p.His246Tyr)
|
rs780756440
|
|
|
NM_020975.6(RET):c.738C>A (p.His246Gln)
|
rs769279838
|
|
|
NM_020975.6(RET):c.738C>G (p.His246Gln)
|
|
|
|
NM_020975.6(RET):c.739G>A (p.Ala247Thr)
|
rs1837733537
|
|
|
NM_020975.6(RET):c.740C>T (p.Ala247Val)
|
rs61843232
|
|
|
NM_020975.6(RET):c.742G>A (p.Gly248Ser)
|
rs1837733775
|
|
|
NM_020975.6(RET):c.744C>T (p.Gly248=)
|
rs1554817806
|
|
|
NM_020975.6(RET):c.745G>A (p.Ala249Thr)
|
rs1564491259
|
|
|
NM_020975.6(RET):c.748C>T (p.Arg250Cys)
|
rs1299878945
|
|
|
NM_020975.6(RET):c.749G>A (p.Arg250His)
|
|
|
|
NM_020975.6(RET):c.749G>T (p.Arg250Leu)
|
|
|
|
NM_020975.6(RET):c.751G>A (p.Glu251Lys)
|
rs562449603
|
|
|
NM_020975.6(RET):c.752AGG[1] (p.Glu252del)
|
rs1554817809
|
|
|
NM_020975.6(RET):c.757G>A (p.Val253Met)
|
rs587780816
|
|
|
NM_020975.6(RET):c.757G>C (p.Val253Leu)
|
|
|
|
NM_020975.6(RET):c.760G>A (p.Val254Met)
|
rs554862459
|
|
|
NM_020975.6(RET):c.760G>C (p.Val254Leu)
|
rs554862459
|
|
|
NM_020975.6(RET):c.760G>T (p.Val254Leu)
|
|
|
|
NM_020975.6(RET):c.764T>C (p.Met255Thr)
|
|
|
|
NM_020975.6(RET):c.769C>A (p.Pro257Thr)
|
|
|
|
NM_020975.6(RET):c.769C>T (p.Pro257Ser)
|
|
|
|
NM_020975.6(RET):c.76G>A (p.Ala26Thr)
|
|
|
|
NM_020975.6(RET):c.76G>T (p.Ala26Ser)
|
rs1554817350
|
|
|
NM_020975.6(RET):c.770C>T (p.Pro257Leu)
|
rs1277252937
|
|
|
NM_020975.6(RET):c.773T>A (p.Phe258Tyr)
|
|
|
|
NM_020975.6(RET):c.77C>T (p.Ala26Val)
|
|
|
|
NM_020975.6(RET):c.788A>G (p.Tyr263Cys)
|
rs1837736594
|
|
|
NM_020975.6(RET):c.791A>G (p.Asp264Gly)
|
rs1393343313
|
|
|
NM_020975.6(RET):c.792C>G (p.Asp264Glu)
|
rs1564491360
|
|
|
NM_020975.6(RET):c.793G>A (p.Glu265Lys)
|
|
|
|
NM_020975.6(RET):c.795G>C (p.Glu265Asp)
|
rs1554817821
|
|
|
NM_020975.6(RET):c.796G>A (p.Asp266Asn)
|
rs1554817823
|
|
|
NM_020975.6(RET):c.7A>G (p.Lys3Glu)
|
rs1564480827
|
|
|
NM_020975.6(RET):c.803C>G (p.Ser268Trp)
|
|
|
|
NM_020975.6(RET):c.805G>C (p.Ala269Pro)
|
rs1564491376
|
|
|
NM_020975.6(RET):c.808C>A (p.Pro270Thr)
|
|
|
|
NM_020975.6(RET):c.815T>C (p.Phe272Ser)
|
rs2132708113
|
|
|
NM_020975.6(RET):c.815T>G (p.Phe272Cys)
|
|
|
|
NM_020975.6(RET):c.817C>A (p.Pro273Thr)
|
rs1588866219
|
|
|
NM_020975.6(RET):c.817C>T (p.Pro273Ser)
|
|
|
|
NM_020975.6(RET):c.820G>A (p.Ala274Thr)
|
rs1837738287
|
|
|
NM_020975.6(RET):c.824G>A (p.Gly275Asp)
|
|
|
|
NM_020975.6(RET):c.824G>C (p.Gly275Ala)
|
rs143209223
|
|
|
NM_020975.6(RET):c.824_825delinsTT (p.Gly275Val)
|
rs1837738788
|
|
|
NM_020975.6(RET):c.826G>T (p.Val276Phe)
|
rs139213499
|
|
|
NM_020975.6(RET):c.830A>G (p.Asp277Gly)
|
|
|
|
NM_020975.6(RET):c.833C>G (p.Thr278Ser)
|
|
|
|
NM_020975.6(RET):c.838A>G (p.Ser280Gly)
|
rs749244375
|
|
|
NM_020975.6(RET):c.841G>A (p.Ala281Thr)
|
|
|
|
NM_020975.6(RET):c.842C>G (p.Ala281Gly)
|
rs745642574
|
|
|
NM_020975.6(RET):c.844G>A (p.Val282Met)
|
rs1588866293
|
|
|
NM_020975.6(RET):c.844G>T (p.Val282Leu)
|
|
|
|
NM_020975.6(RET):c.849G>A (p.Val283=)
|
rs1588866305
|
|
|
NM_020975.6(RET):c.850G>A (p.Glu284Lys)
|
rs1588866311
|
|
|
NM_020975.6(RET):c.853T>C (p.Phe285Leu)
|
rs1554817836
|
|
|
NM_020975.6(RET):c.855C>G (p.Phe285Leu)
|
rs778909045
|
|
|
NM_020975.6(RET):c.857A>C (p.Lys286Thr)
|
rs745710576
|
|
|
NM_020975.6(RET):c.865G>C (p.Glu289Gln)
|
rs1837741195
|
|
|
NM_020975.6(RET):c.867+3G>A
|
rs2132709323
|
|
|
NM_020975.6(RET):c.867+6T>C
|
|
|
|
NM_020975.6(RET):c.868-2A>G
|
|
|
|
NM_020975.6(RET):c.870C>G (p.Asp290Glu)
|
rs2132718797
|
|
|
NM_020975.6(RET):c.874G>T (p.Val292Leu)
|
|
|
|
NM_020975.6(RET):c.875T>G (p.Val292Gly)
|
|
|
|
NM_020975.6(RET):c.889C>A (p.Arg297Ser)
|
|
|
|
NM_020975.6(RET):c.889C>T (p.Arg297Cys)
|
|
|
|
NM_020975.6(RET):c.890G>C (p.Arg297Pro)
|
|
|
|
NM_020975.6(RET):c.892G>A (p.Val298Ile)
|
rs1837776673
|
|
|
NM_020975.6(RET):c.89A>G (p.Tyr30Cys)
|
rs2132656815
|
|
|
NM_020975.6(RET):c.902C>A (p.Ala301Glu)
|
|
|
|
NM_020975.6(RET):c.902C>T (p.Ala301Val)
|
|
|
|
NM_020975.6(RET):c.907G>A (p.Val303Met)
|
rs1588867164
|
|
|
NM_020975.6(RET):c.907G>C (p.Val303Leu)
|
|
|
|
NM_020975.6(RET):c.910G>A (p.Val304Ile)
|
|
|
|
NM_020975.6(RET):c.916G>T (p.Ala306Ser)
|
rs1837777521
|
|
|
NM_020975.6(RET):c.919T>C (p.Ser307Pro)
|
|
|
|
NM_020975.6(RET):c.920C>T (p.Ser307Leu)
|
rs1554817979
|
|
|
NM_020975.6(RET):c.922G>A (p.Gly308Arg)
|
rs1060500763
|
|
|
NM_020975.6(RET):c.925G>A (p.Glu309Lys)
|
rs769894584
|
|
|
NM_020975.6(RET):c.931G>A (p.Val311Met)
|
rs1311500725
|
|
|
NM_020975.6(RET):c.931G>C (p.Val311Leu)
|
rs1311500725
|
|
|
NM_020975.6(RET):c.931G>T (p.Val311Leu)
|
rs1311500725
|
|
|
NM_020975.6(RET):c.938G>T (p.Arg313Leu)
|
rs77702891
|
|
|
NM_020975.6(RET):c.944C>T (p.Thr315Ile)
|
|
|
|
NM_020975.6(RET):c.948C>T (p.Ser316=)
|
rs2132720146
|
|
|
NM_020975.6(RET):c.950C>T (p.Thr317Met)
|
rs760322514
|
|
|
NM_020975.6(RET):c.958C>G (p.Pro320Ala)
|
|
|
|
NM_020975.6(RET):c.958C>T (p.Pro320Ser)
|
|
|
|
NM_020975.6(RET):c.959C>G (p.Pro320Arg)
|
rs1837779952
|
|
|
NM_020975.6(RET):c.959C>T (p.Pro320Leu)
|
rs1837779952
|
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
|
NM_020975.6(RET):c.961G>T (p.Gly321Trp)
|
rs377767388
|
|
|
NM_020975.6(RET):c.962G>A (p.Gly321Glu)
|
|
|
|
NM_020975.6(RET):c.964G>A (p.Asp322Asn)
|
rs1060500755
|
|
|
NM_020975.6(RET):c.964G>T (p.Asp322Tyr)
|
rs1060500755
|
|
|
NM_020975.6(RET):c.968C>A (p.Thr323Asn)
|
|
|
|
NM_020975.6(RET):c.970T>G (p.Trp324Gly)
|
rs1837780573
|
|
|
NM_020975.6(RET):c.974C>T (p.Ala325Val)
|
|
|
|
NM_020975.6(RET):c.978G>C (p.Gln326His)
|
rs1837781231
|
|
|
NM_020975.6(RET):c.980A>C (p.Gln327Pro)
|
rs1837781306
|
|
|
NM_020975.6(RET):c.981G>C (p.Gln327His)
|
rs876658331
|
|
|
NM_020975.6(RET):c.988C>T (p.Arg330Trp)
|
rs1172318035
|
|
|
NM_020975.6(RET):c.989G>A (p.Arg330Gln)
|
rs80236571
|
|
|
NM_020975.6(RET):c.991G>T (p.Val331Leu)
|
rs1420717222
|
|
|
NM_020975.6(RET):c.997C>T (p.His333Tyr)
|
rs1554818012
|
|
|
NM_020975.6(RET):c.999C>G (p.His333Gln)
|
rs1564492193
|
|
|
NM_020981.4(B3GALT1):c.543del (p.Phe181fs)
|
rs193920868
|
|
|
NM_021115.5(SEZ6L):c.1515-5G>A
|
rs193920909
|
|
|
NM_021115.5(SEZ6L):c.778G>T (p.Glu260Ter)
|
rs193920876
|
|
|
NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)
|
|
|
|
NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del)
|
|
|
|
NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro)
|
rs141194514
|
|
|
NM_021133.4(RNASEL):c.1219del (p.Cys407fs)
|
rs2102370333
|
|
|
NM_021133.4(RNASEL):c.1222C>T (p.Leu408=)
|
rs2102370326
|
|
|
NM_021133.4(RNASEL):c.1222del (p.Leu408fs)
|
rs2102370328
|
|
|
NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg)
|
rs989361325
|
|
|
NM_021133.4(RNASEL):c.1234del (p.Arg412fs)
|
rs2102370300
|
|
|
NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys)
|
rs2102370287
|
|
|
NM_021133.4(RNASEL):c.1239G>A (p.Glu413=)
|
rs1186074827
|
|
|
NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)
|
rs2102370272
|
|
|
NM_021133.4(RNASEL):c.1248del (p.Leu417fs)
|
rs2102370267
|
|
|
NM_021133.4(RNASEL):c.1250del (p.Leu417fs)
|
rs2102370262
|
|
|
NM_021133.4(RNASEL):c.1250dup (p.Leu417fs)
|
rs2102370262
|
|
|
NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs)
|
rs2102370252
|
|
|
NM_021133.4(RNASEL):c.1253dup (p.Thr419fs)
|
rs2102370247
|
|
|
NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys)
|
rs2102370237
|
|
|
NM_021133.4(RNASEL):c.1256del (p.Thr419fs)
|
rs2102370243
|
|
|
NM_021133.4(RNASEL):c.1257A>T (p.Thr419=)
|
rs2102370230
|
|
|
NM_021133.4(RNASEL):c.1257del (p.Phe420fs)
|
rs2102370233
|
|
|
NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs)
|
rs2102370225
|
|
|
NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=)
|
rs2102370209
|
|
|
NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp)
|
rs2102370198
|
|
|
NM_021133.4(RNASEL):c.1266dup (p.Ser423fs)
|
rs2102370197
|
|
|
NM_021133.4(RNASEL):c.1268del (p.Ser423fs)
|
rs2102370194
|
|
|
NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln)
|
rs1053454537
|
|
|
NM_021133.4(RNASEL):c.1273dup (p.Ser425fs)
|
rs2102370187
|
|
|
NM_021133.4(RNASEL):c.1279del (p.Arg427fs)
|
rs2102370169
|
|
|
NM_021133.4(RNASEL):c.1285dup (p.His429fs)
|
rs2102370147
|
|
|
NM_021133.4(RNASEL):c.1286del (p.His429fs)
|
rs2102370138
|
|
|
NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs)
|
rs2102370108
|
|
|
NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter)
|
rs2102370104
|
|
|
NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser)
|
rs2102370104
|
|
|
NM_021133.4(RNASEL):c.1293dup (p.Val432fs)
|
rs2102370096
|
|
|
NM_021133.4(RNASEL):c.1300del (p.Val434fs)
|
rs2102370082
|
|
|
NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro)
|
rs2102370075
|
|
|
NM_021133.4(RNASEL):c.1305C>T (p.Thr435=)
|
rs2102370068
|
|
|
NM_021133.4(RNASEL):c.1311del (p.Cys437fs)
|
rs2102370054
|
|
|
NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter)
|
rs2102370050
|
|
|
NM_021133.4(RNASEL):c.1322del (p.Leu441fs)
|
rs2102370008
|
|
|
NM_021133.4(RNASEL):c.1343dup (p.His448fs)
|
rs2102369976
|
|
|
NM_021133.4(RNASEL):c.1351del (p.Glu451fs)
|
rs2102369965
|
|
|
NM_021133.4(RNASEL):c.1358del (p.Val453fs)
|
rs2102369958
|
|
|
NM_021133.4(RNASEL):c.1360del (p.Glu454fs)
|
rs2102369955
|
|
|
NM_021133.4(RNASEL):c.1364dup (p.Asn455fs)
|
rs2102369947
|
|
|
NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp)
|
rs2102369941
|
|
|
NM_021133.4(RNASEL):c.1369del (p.Glu457fs)
|
rs2102369939
|
|
|
NM_021133.4(RNASEL):c.1380del (p.Phe460fs)
|
rs2102369911
|
|
|
NM_021133.4(RNASEL):c.1385del (p.Arg462fs)
|
rs2102369892
|
|
|
NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser)
|
rs2102369881
|
|
|
NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met)
|
rs2102369874
|
|
|
NM_021133.4(RNASEL):c.1395del (p.Ser466fs)
|
rs2102369871
|
|
|
NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs)
|
rs2102369865
|
|
|
NM_021133.4(RNASEL):c.1400dup (p.Ile468fs)
|
rs2102369862
|
|
|
NM_021133.4(RNASEL):c.1403del (p.Ile468fs)
|
rs2102369853
|
|
|
NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile)
|
rs1196436666
|
|
|
NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu)
|
rs1364210034
|
|
|
NM_021133.4(RNASEL):c.1407del (p.Phe469fs)
|
rs2102369842
|
|
|
NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr)
|
rs2102369835
|
|
|
NM_021133.4(RNASEL):c.1411del (p.Ala471fs)
|
rs2102369827
|
|
|
NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val)
|
rs2102369822
|
|
|
NM_021133.4(RNASEL):c.1413del (p.Val472fs)
|
rs2102369818
|
|
|
NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs)
|
rs2102369813
|
|
|
NM_021133.4(RNASEL):c.1416T>C (p.Val472=)
|
rs2102369809
|
|
|
NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro)
|
rs1661571994
|
|
|
NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp)
|
rs2102369798
|
|
|
NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met)
|
rs2102369789
|
|
|
NM_021133.4(RNASEL):c.1430del (p.Leu477fs)
|
rs2102369783
|
|
|
NM_021133.4(RNASEL):c.1481-1G>T
|
|
|
|
NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)
|
|
|
|
NM_021133.4(RNASEL):c.2039+1del
|
|
|
|
NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)
|
|
|
|
NM_021163.4(RBAK):c.1602A>T (p.Lys534Asn)
|
rs193921102
|
|
|
NM_021229.4(NTN4):c.823C>T (p.His275Tyr)
|
rs193920922
|
|
|
NM_021616.6(TRIM34):c.-5G>A
|
rs193920907
|
|
|
NM_021815.5(SLC5A7):c.1175C>T (p.Ala392Val)
|
rs193921021
|
|
|
NM_021819.3(LMAN1L):c.1338G>T (p.Lys446Asn)
|
rs193921107
|
|
|
NM_021955.5(GNGT1):c.96+1G>A
|
rs193921133
|
|
|
NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)
|
rs193921136
|
|
|
NM_022080.3(NAPB):c.786+2T>C
|
rs193921124
|
|
|
NM_022119.4(PRSS22):c.806G>A (p.Arg269His)
|
rs193920873
|
|
|
NM_022168.4(IFIH1):c.816A>C (p.Glu272Asp)
|
rs193920867
|
|
|
NM_022169.5(ABCG4):c.237G>T (p.Arg79Ser)
|
rs193920956
|
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
|
NM_022470.4(ZMAT3):c.182G>A (p.Cys61Tyr)
|
rs193920814
|
|
|
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
|
|
|
|
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg)
|
rs950156492
|
|
|
NM_022769.5(CRTC3):c.1387C>A (p.Arg463Ser)
|
rs193921108
|
|
|
NM_022828.5(YTHDC2):c.2617C>A (p.Pro873Thr)
|
rs193921121
|
|
|
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
|
rs1961069899
|
|
|
NM_022904.3(RASAL3):c.-5C>G
|
rs76267899
|
|
|
NM_023015.5(INTS3):c.1700T>C (p.Ile567Thr)
|
rs193920901
|
|
|
NM_023078.6(PYCR3):c.16C>T (p.Pro6Ser)
|
rs193920765
|
|
|
NM_024111.6(CHAC1):c.279G>A (p.Trp93Ter)
|
rs193920914
|
|
|
NM_024426.6(WT1):c.*100A>G
|
rs1851738551
|
|
|
NM_024426.6(WT1):c.*1021GT[14]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
|
NM_024426.6(WT1):c.*1225T>C
|
rs886048210
|
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
|
NM_024426.6(WT1):c.*2G>A
|
|
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
|
NM_024426.6(WT1):c.*3G>A
|
|
|
|
NM_024426.6(WT1):c.*5T>C
|
rs765743928
|
|
|
NM_024426.6(WT1):c.*629T>C
|
rs1851723085
|
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
|
NM_024426.6(WT1):c.-102C>A
|
rs886048240
|
|
|
NM_024426.6(WT1):c.-114T>A
|
rs886048242
|
|
|
NM_024426.6(WT1):c.-135G>A
|
rs886048243
|
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
|
NM_024426.6(WT1):c.-87C>T
|
rs1395440150
|
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
|
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
|
|
|
|
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly)
|
rs2133032382
|
|
|
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp)
|
rs1852674511
|
|
|
NM_024426.6(WT1):c.1016+6T>C
|
|
|
|
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
|
|
|
|
NM_024426.6(WT1):c.1017-1G>A
|
rs868047507
|
|
|
NM_024426.6(WT1):c.1017-2A>G
|
|
|
|
NM_024426.6(WT1):c.1017-3C>T
|
rs1554940545
|
|
|
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
|
|
|
|
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg)
|
rs1564975891
|
|
|
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)
|
rs371021920
|
|
|
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu)
|
rs2132959011
|
|
|
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys)
|
rs1852103005
|
|
|
NM_024426.6(WT1):c.1031A>T (p.Tyr344Phe)
|
|
|
|
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys)
|
rs2132958801
|
|
|
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg)
|
rs750018485
|
|
|
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)
|
rs267602851
|
|
|
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
|
|
|
|
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
|
|
|
|
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
|
|
|
|
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala)
|
rs2132958406
|
|
|
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
|
|
|
|
NM_024426.6(WT1):c.1052C>T (p.Thr351Met)
|
rs761627098
|
|
|
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
|
|
|
|
NM_024426.6(WT1):c.1057A>G (p.Ile353Val)
|
rs1554940527
|
|
|
NM_024426.6(WT1):c.105G>T (p.Gln35His)
|
|
|
|
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
|
|
|
|
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu)
|
rs760654956
|
|
|
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
|
|
|
|
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
|
|
|
|
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu)
|
rs771117558
|
|
|
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg)
|
rs1554940518
|
|
|
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly)
|
rs1852099254
|
|
|
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
|
|
|
|
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr)
|
rs2132957665
|
|
|
NM_024426.6(WT1):c.1086C>A (p.His362Gln)
|
|
|
|
NM_024426.6(WT1):c.1086C>G (p.His362Gln)
|
rs1421853816
|
|
|
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
|
|
|
|
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
|
|
|
|
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg)
|
rs1852098454
|
|
|
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
|
|
|
|
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)
|
rs2132957418
|
|
|
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
|
|
|
|
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
|
|
|
|
NM_024426.6(WT1):c.1096G>A (p.Val366Ile)
|
|
|
|
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
|
|
|
|
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser)
|
rs1852096499
|
|
|
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
|
|
|
|
NM_024426.6(WT1):c.110G>C (p.Gly37Ala)
|
rs1853477982
|
|
|
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg)
|
rs1852096219
|
|
|
NM_024426.6(WT1):c.1113+3G>A
|
|
|
|
NM_024426.6(WT1):c.1113+5G>C
|
rs930795675
|
|
|
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
|
|
|
|
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
|
|
|
|
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln)
|
rs2132942126
|
|
|
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
|
|
|
|
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
|
|
|
|
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
|
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
|
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
|
|
|
|
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
|
|
|
|
NM_024426.6(WT1):c.112G>T (p.Val38Phe)
|
rs1229949294
|
|
|
NM_024426.6(WT1):c.1130C>A (p.Pro377His)
|
rs1590339111
|
|
|
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1139C>T (p.Ala380Val)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
|
|
|
|
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
|
|
|
|
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
|
|
|
|
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala)
|
rs1851973152
|
|
|
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile)
|
rs2132941453
|
|
|
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
|
|
|
|
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr)
|
rs1412336417
|
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
|
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
|
|
|
|
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
|
|
|
|
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
|
|
|
|
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
|
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)
|
rs1564972874
|
|
|
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr)
|
rs267602850
|
|
|
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
|
rs1851969544
|
|
|
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu)
|
rs200539928
|
|
|
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
|
|
|
|
NM_024426.6(WT1):c.118G>C (p.Asp40His)
|
rs1853477193
|
|
|
NM_024426.6(WT1):c.118del (p.Asp40fs)
|
rs2133107122
|
|
|
NM_024426.6(WT1):c.1190T>C (p.Met397Thr)
|
rs2132940385
|
|
|
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
|
|
|
|
NM_024426.6(WT1):c.1191G>A (p.Met397Ile)
|
rs2132940348
|
|
|
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser)
|
rs2132940315
|
|
|
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.1196C>T (p.Ala399Val)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
|
|
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
|
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
|
|
|
|
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser)
|
rs748864758
|
|
|
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys)
|
rs1851967853
|
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
|
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_024426.6(WT1):c.121C>G (p.Pro41Ala)
|
rs926668379
|
|
|
NM_024426.6(WT1):c.1244T>G (p.Met415Arg)
|
|
|
|
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
|
|
|
|
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
|
|
|
|
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1264+3A>G
|
|
|
|
NM_024426.6(WT1):c.1264+6T>A
|
rs1366602349
|
|
|
NM_024426.6(WT1):c.1265-16_1265-15del
|
rs1447574915
|
|
|
NM_024426.6(WT1):c.1265-18A>G
|
|
|
|
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg)
|
rs2132921474
|
|
|
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
|
|
|
|
NM_024426.6(WT1):c.127G>T (p.Gly43Cys)
|
rs1166553415
|
|
|
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro)
|
rs1358408901
|
|
|
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
|
|
|
|
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
|
|
|
|
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
|
|
|
|
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys)
|
rs2132920559
|
|
|
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys)
|
rs2132920415
|
|
|
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg)
|
rs1851852482
|
|
|
NM_024426.6(WT1):c.133T>G (p.Trp45Gly)
|
rs1186470250
|
|
|
NM_024426.6(WT1):c.1341A>C (p.Gln447His)
|
rs772822466
|
|
|
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
|
|
|
|
NM_024426.6(WT1):c.1345A>G (p.Arg449Gly)
|
|
|
|
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
|
|
|
|
NM_024426.6(WT1):c.136G>A (p.Ala46Thr)
|
rs886048233
|
|
|
NM_024426.6(WT1):c.136G>T (p.Ala46Ser)
|
rs886048233
|
|
|
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser)
|
rs2132915129
|
|
|
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg)
|
rs1851834162
|
|
|
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
|
|
|
|
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
|
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1408C>T (p.His470Tyr)
|
rs1554939072
|
|
|
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
|
|
|
|
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
|
|
|
|
NM_024426.6(WT1):c.143T>C (p.Leu48Ser)
|
rs1565002394
|
|
|
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
|
|
|
|
NM_024426.6(WT1):c.1447+3G>A
|
rs2132913499
|
|
|
NM_024426.6(WT1):c.1448-13A>G
|
|
|
|
NM_024426.6(WT1):c.1448-3C>A
|
rs904330511
|
|
|
NM_024426.6(WT1):c.1448-3C>T
|
|
|
|
NM_024426.6(WT1):c.1448-6C>G
|
|
|
|
NM_024426.6(WT1):c.145G>A (p.Gly49Ser)
|
|
|
|
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
|
rs267602849
|
|
|
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)
|
rs1315549918
|
|
|
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser)
|
rs761360324
|
|
|
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg)
|
rs776256676
|
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
|
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
|
|
|
|
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)
|
rs2132898997
|
|
|
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
|
|
|
|
NM_024426.6(WT1):c.150del (p.Ala51fs)
|
rs2133106747
|
|
|
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
|
|
|
|
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
|
|
|
|
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)
|
rs1851744303
|
|
|
NM_024426.6(WT1):c.1519del (p.His507fs)
|
|
|
|
NM_024426.6(WT1):c.151G>A (p.Ala51Thr)
|
rs1853473868
|
|
|
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn)
|
rs2133106703
|
|
|
NM_024426.6(WT1):c.1524C>A (p.His508Gln)
|
rs1451629862
|
|
|
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)
|
rs2132898041
|
|
|
NM_024426.6(WT1):c.1528A>G (p.Met510Val)
|
rs1554938534
|
|
|
NM_024426.6(WT1):c.1529T>A (p.Met510Lys)
|
rs1851743827
|
|
|
NM_024426.6(WT1):c.152C>A (p.Ala51Asp)
|
|
|
|
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)
|
rs1363144688
|
|
|
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
|
|
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1545G>A (p.Met515Ile)
|
rs2132897547
|
|
|
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)
|
rs1851742668
|
|
|
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)
|
rs1851742229
|
|
|
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
|
|
|
|
NM_024426.6(WT1):c.162C>A (p.Ser54Arg)
|
rs776954184
|
|
|
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
|
|
|
|
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val)
|
rs2133106545
|
|
|
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
|
|
|
|
NM_024426.6(WT1):c.169C>A (p.Arg57Ser)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.169C>G (p.Arg57Gly)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.16C>T (p.Leu6=)
|
|
|
|
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
|
|
|
|
NM_024426.6(WT1):c.170G>A (p.Arg57His)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.170G>T (p.Arg57Leu)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.172C>T (p.Leu58Phe)
|
rs1412425868
|
|
|
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
|
|
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
|
NM_024426.6(WT1):c.176A>G (p.Gln59Arg)
|
rs2133106426
|
|
|
NM_024426.6(WT1):c.177G>A (p.Gln59=)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.177G>C (p.Gln59His)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
|
|
|
|
NM_024426.6(WT1):c.181C>G (p.Arg61Gly)
|
|
|
|
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
|
|
|
|
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
|
|
|
|
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
|
|
|
|
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
|
|
|
|
NM_024426.6(WT1):c.185G>A (p.Arg62Lys)
|
rs1295712217
|
|
|
NM_024426.6(WT1):c.189C>A (p.Ser63Arg)
|
rs1215127008
|
|
|
NM_024426.6(WT1):c.191G>A (p.Arg64His)
|
rs1853471149
|
|
|
NM_024426.6(WT1):c.191G>T (p.Arg64Leu)
|
|
|
|
NM_024426.6(WT1):c.193G>T (p.Gly65Trp)
|
rs374404615
|
|
|
NM_024426.6(WT1):c.194G>A (p.Gly65Glu)
|
rs1853470727
|
|
|
NM_024426.6(WT1):c.196G>A (p.Ala66Thr)
|
rs1590410967
|
|
|
NM_024426.6(WT1):c.196del (p.Ala66fs)
|
|
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
|
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
|
|
|
|
NM_024426.6(WT1):c.19C>A (p.Gln7Lys)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.19C>T (p.Gln7Ter)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.200C>T (p.Ser67Phe)
|
rs1327516147
|
|
|
NM_024426.6(WT1):c.202G>C (p.Gly68Arg)
|
rs1353446740
|
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
|
NM_024426.6(WT1):c.210G>C (p.Glu70Asp)
|
rs745506215
|
|
|
NM_024426.6(WT1):c.211C>T (p.Pro71Ser)
|
rs1392405207
|
|
|
NM_024426.6(WT1):c.215A>T (p.Gln72Leu)
|
rs2133106001
|
|
|
NM_024426.6(WT1):c.216G>C (p.Gln72His)
|
rs5030135
|
|
|
NM_024426.6(WT1):c.220A>G (p.Met74Val)
|
|
|
|
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
|
|
|
|
NM_024426.6(WT1):c.232G>A (p.Val78Met)
|
rs1590410789
|
|
|
NM_024426.6(WT1):c.236G>A (p.Arg79Gln)
|
rs1853467176
|
|
|
NM_024426.6(WT1):c.238G>C (p.Asp80His)
|
|
|
|
NM_024426.6(WT1):c.239A>G (p.Asp80Gly)
|
|
|
|
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
|
|
|
|
NM_024426.6(WT1):c.240C>G (p.Asp80Glu)
|
rs2133105820
|
|
|
NM_024426.6(WT1):c.241C>A (p.Leu81Met)
|
rs777617460
|
|
|
NM_024426.6(WT1):c.242T>G (p.Leu81Arg)
|
rs2133105795
|
|
|
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
|
|
|
|
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
|
|
|
|
NM_024426.6(WT1):c.247G>C (p.Ala83Pro)
|
rs886048231
|
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
|
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
|
|
|
|
NM_024426.6(WT1):c.24C>A (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.24C>G (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
|
|
|
|
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
|
|
|
|
NM_024426.6(WT1):c.25C>A (p.Pro9Thr)
|
rs1314273962
|
|
|
NM_024426.6(WT1):c.25C>G (p.Pro9Ala)
|
|
|
|
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
|
|
|
|
NM_024426.6(WT1):c.262G>T (p.Val88Phe)
|
rs1410971862
|
|
|
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
|
|
|
|
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
|
|
|
|
NM_024426.6(WT1):c.266C>G (p.Pro89Arg)
|
|
|
|
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
|
|
|
|
NM_024426.6(WT1):c.268T>C (p.Ser90Pro)
|
rs1590410623
|
|
|
NM_024426.6(WT1):c.269C>T (p.Ser90Phe)
|
rs1853464700
|
|
|
NM_024426.6(WT1):c.26C>G (p.Pro9Arg)
|
rs948132360
|
|
|
NM_024426.6(WT1):c.275G>A (p.Gly92Asp)
|
|
|
|
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.278G>A (p.Gly93Asp)
|
rs1590410578
|
|
|
NM_024426.6(WT1):c.280G>A (p.Gly94Ser)
|
rs758512604
|
|
|
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
|
|
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|
|
NM_024426.6(WT1):c.286G>T (p.Gly96Cys)
|
rs1060501254
|
|
|
NM_024426.6(WT1):c.287_288insGGA (p.Gly96_Cys97insAsp)
|
|
|
|
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
|
|
|
|
NM_024426.6(WT1):c.289T>C (p.Cys97Arg)
|
rs1383360383
|
|
|
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
|
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.290G>C (p.Cys97Ser)
|
rs1853462998
|
|
|
NM_024426.6(WT1):c.293C>G (p.Ala98Gly)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.293C>T (p.Ala98Val)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
|
|
|
|
NM_024426.6(WT1):c.296T>A (p.Leu99Gln)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.296T>C (p.Leu99Pro)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.298C>A (p.Pro100Thr)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.298C>G (p.Pro100Ala)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.298C>T (p.Pro100Ser)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
|
|
|
|
NM_024426.6(WT1):c.29C>A (p.Ala10Asp)
|
rs997104313
|
|
|
NM_024426.6(WT1):c.301G>C (p.Val101Leu)
|
rs1853461708
|
|
|
NM_024426.6(WT1):c.305G>A (p.Ser102Asn)
|
rs1210117032
|
|
|
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
|
|
|
|
NM_024426.6(WT1):c.307G>T (p.Gly103Cys)
|
rs1348287926
|
|
|
NM_024426.6(WT1):c.310G>A (p.Ala104Thr)
|
rs1853461168
|
|
|
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
|
|
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
|
NM_024426.6(WT1):c.314C>A (p.Ala105Glu)
|
rs948061247
|
|
|
NM_024426.6(WT1):c.319T>G (p.Trp107Gly)
|
rs1853460114
|
|
|
NM_024426.6(WT1):c.320G>T (p.Trp107Leu)
|
rs1009810769
|
|
|
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
|
|
|
|
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
|
|
|
|
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_024426.6(WT1):c.326C>A (p.Pro109Gln)
|
rs1853459569
|
|
|
NM_024426.6(WT1):c.328G>T (p.Val110Leu)
|
|
|
|
NM_024426.6(WT1):c.329T>C (p.Val110Ala)
|
rs1853459284
|
|
|
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
|
|
|
|
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
|
|
|
|
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
|
|
|
|
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)
|
rs2133107830
|
|
|
NM_024426.6(WT1):c.340G>A (p.Ala114Thr)
|
rs1590410300
|
|
|
NM_024426.6(WT1):c.341C>T (p.Ala114Val)
|
rs1311557029
|
|
|
NM_024426.6(WT1):c.343C>A (p.Pro115Thr)
|
rs916583720
|
|
|
NM_024426.6(WT1):c.344C>A (p.Pro115His)
|
rs1565001804
|
|
|
NM_024426.6(WT1):c.346C>A (p.Pro116Thr)
|
rs1554946595
|
|
|
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
|
|
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
|
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
|
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
|
NM_024426.6(WT1):c.352G>A (p.Ala118Thr)
|
rs1253163678
|
|
|
NM_024426.6(WT1):c.356C>G (p.Ser119Trp)
|
rs1853456180
|
|
|
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
|
|
|
|
NM_024426.6(WT1):c.358G>A (p.Ala120Thr)
|
rs1590410151
|
|
|
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
|
|
|
|
NM_024426.6(WT1):c.35C>T (p.Thr12Met)
|
rs2133107793
|
|
|
NM_024426.6(WT1):c.367T>G (p.Ser123Ala)
|
|
|
|
NM_024426.6(WT1):c.368C>T (p.Ser123Leu)
|
rs2133104248
|
|
|
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
|
|
|
|
NM_024426.6(WT1):c.376G>A (p.Gly126Ser)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
|
|
|
|
NM_024426.6(WT1):c.376G>T (p.Gly126Cys)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
|
|
|
|
NM_024426.6(WT1):c.377G>C (p.Gly126Ala)
|
rs2133104145
|
|
|
NM_024426.6(WT1):c.379C>A (p.Pro127Thr)
|
rs1554946578
|
|
|
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
|
|
|
|
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_024426.6(WT1):c.382G>A (p.Ala128Thr)
|
rs1853454136
|
|
|
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
|
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
|
NM_024426.6(WT1):c.388C>T (p.Pro130Ser)
|
rs1554946573
|
|
|
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
|
|
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
|
NM_024426.6(WT1):c.390_401dup (p.128APPP[3])
|
rs2133103848
|
|
|
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
|
|
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
|
NM_024426.6(WT1):c.393G>A (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
|
|
|
|
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
|
|
|
|
NM_024426.6(WT1):c.397C>T (p.Pro133Ser)
|
rs1202603651
|
|
|
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
|
|
|
|
NM_024426.6(WT1):c.400C>T (p.Pro134Ser)
|
rs2133103862
|
|
|
NM_024426.6(WT1):c.401C>A (p.Pro134Gln)
|
|
|
|
NM_024426.6(WT1):c.401C>G (p.Pro134Arg)
|
rs748974419
|
|
|
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
|
|
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
|
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
|
|
|
|
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)
|
rs1469499452
|
|
|
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del)
|
rs2133103594
|
|
|
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup)
|
rs1853449457
|
|
|
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
|
|
|
|
NM_024426.6(WT1):c.409C>G (p.Pro137Ala)
|
rs1853451078
|
|
|
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
|
|
|
|
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
|
rs760304811
|
|
|
NM_024426.6(WT1):c.412C>A (p.Pro138Thr)
|
|
|
|
NM_024426.6(WT1):c.413C>A (p.Pro138Gln)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>G (p.Pro138Arg)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
|
|
|
|
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
|
|
|
|
NM_024426.6(WT1):c.416C>G (p.Pro139Arg)
|
rs878855085
|
|
|
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
|
|
|
|
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
|
|
|
|
NM_024426.6(WT1):c.425A>C (p.His142Pro)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.425A>T (p.His142Leu)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.426C>G (p.His142Gln)
|
rs1183359726
|
|
|
NM_024426.6(WT1):c.427T>C (p.Ser143Pro)
|
rs778937284
|
|
|
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
|
|
|
|
NM_024426.6(WT1):c.430_432del (p.Phe144del)
|
|
|
|
NM_024426.6(WT1):c.433A>G (p.Ile145Val)
|
rs2133103410
|
|
|
NM_024426.6(WT1):c.436A>C (p.Lys146Gln)
|
|
|
|
NM_024426.6(WT1):c.440A>C (p.Gln147Pro)
|
|
|
|
NM_024426.6(WT1):c.445C>T (p.Pro149Ser)
|
rs1554946517
|
|
|
NM_024426.6(WT1):c.446C>A (p.Pro149Gln)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.446C>G (p.Pro149Arg)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.448A>G (p.Ser150Gly)
|
rs1853447534
|
|
|
NM_024426.6(WT1):c.449G>A (p.Ser150Asn)
|
rs1853447426
|
|
|
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
|
|
|
|
NM_024426.6(WT1):c.44C>T (p.Pro15Leu)
|
rs2133107749
|
|
|
NM_024426.6(WT1):c.450C>A (p.Ser150Arg)
|
rs1213710686
|
|
|
NM_024426.6(WT1):c.451T>A (p.Trp151Arg)
|
rs1853446972
|
|
|
NM_024426.6(WT1):c.455G>A (p.Gly152Asp)
|
rs1853446628
|
|
|
NM_024426.6(WT1):c.460G>A (p.Ala154Thr)
|
|
|
|
NM_024426.6(WT1):c.463G>A (p.Glu155Lys)
|
rs1853446395
|
|
|
NM_024426.6(WT1):c.466C>T (p.Pro156Ser)
|
rs1353428791
|
|
|
NM_024426.6(WT1):c.467C>A (p.Pro156Gln)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.467C>T (p.Pro156Leu)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.46G>A (p.Glu16Lys)
|
rs2133107724
|
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.471C>G (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.472G>A (p.Glu158Lys)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.472G>C (p.Glu158Gln)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
|
|
|
|
NM_024426.6(WT1):c.477G>C (p.Glu159Asp)
|
rs2133102935
|
|
|
NM_024426.6(WT1):c.478C>G (p.Gln160Glu)
|
rs1554946500
|
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
|
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
|
|
|
|
NM_024426.6(WT1):c.482G>T (p.Cys161Phe)
|
rs1201988298
|
|
|
NM_024426.6(WT1):c.488G>A (p.Ser163Asn)
|
rs1853444119
|
|
|
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
|
|
|
|
NM_024426.6(WT1):c.490G>C (p.Ala164Pro)
|
rs986597775
|
|
|
NM_024426.6(WT1):c.496A>G (p.Thr166Ala)
|
rs1853443725
|
|
|
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
|
|
|
|
NM_024426.6(WT1):c.49C>A (p.Pro17Thr)
|
|
|
|
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
|
|
|
|
NM_024426.6(WT1):c.503A>G (p.His168Arg)
|
rs762660918
|
|
|
NM_024426.6(WT1):c.505T>C (p.Phe169Leu)
|
rs2133102637
|
|
|
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
|
|
|
|
NM_024426.6(WT1):c.50C>T (p.Pro17Leu)
|
rs1853481697
|
|
|
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
|
|
|
|
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
|
|
|
|
NM_024426.6(WT1):c.520A>G (p.Thr174Ala)
|
rs955122145
|
|
|
NM_024426.6(WT1):c.524G>A (p.Gly175Asp)
|
rs1853442286
|
|
|
NM_024426.6(WT1):c.527C>T (p.Thr176Ile)
|
rs1853442157
|
|
|
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
|
|
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
|
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
|
|
|
|
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
|
|
|
|
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
|
|
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
|
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
|
|
|
|
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
|
|
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
|
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
|
|
|
|
NM_024426.6(WT1):c.542G>C (p.Arg181Pro)
|
rs1853441270
|
|
|
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
|
|
|
|
NM_024426.6(WT1):c.547G>C (p.Gly183Arg)
|
rs1462705405
|
|
|
NM_024426.6(WT1):c.548G>A (p.Gly183Glu)
|
rs1060501256
|
|
|
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
|
|
|
|
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
|
|
|
|
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
|
|
|
|
NM_024426.6(WT1):c.556G>A (p.Gly186Ser)
|
rs768644520
|
|
|
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
|
|
|
|
NM_024426.6(WT1):c.562C>T (p.Pro188Ser)
|
rs1565001232
|
|
|
NM_024426.6(WT1):c.563C>T (p.Pro188Leu)
|
rs2133102091
|
|
|
NM_024426.6(WT1):c.565C>G (p.Pro189Ala)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.565C>T (p.Pro189Ser)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
|
|
|
|
NM_024426.6(WT1):c.566C>G (p.Pro189Arg)
|
rs745879965
|
|
|
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
|
|
|
|
NM_024426.6(WT1):c.572G>C (p.Ser191Thr)
|
rs2133101967
|
|
|
NM_024426.6(WT1):c.575A>G (p.Gln192Arg)
|
rs1853438394
|
|
|
NM_024426.6(WT1):c.577G>A (p.Ala193Thr)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577G>C (p.Ala193Pro)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
|
|
|
|
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
|
|
|
|
NM_024426.6(WT1):c.578C>G (p.Ala193Gly)
|
rs572926487
|
|
|
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
|
|
|
|
NM_024426.6(WT1):c.581C>T (p.Ser194Leu)
|
rs2133101846
|
|
|
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
|
|
|
|
NM_024426.6(WT1):c.584C>T (p.Ser195Phe)
|
rs778194188
|
|
|
NM_024426.6(WT1):c.589C>A (p.Gln197Lys)
|
rs2133101720
|
|
|
NM_024426.6(WT1):c.590A>G (p.Gln197Arg)
|
rs1853436737
|
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
|
NM_024426.6(WT1):c.592G>T (p.Ala198Ser)
|
|
|
|
NM_024426.6(WT1):c.593C>T (p.Ala198Val)
|
rs1853436133
|
|
|
NM_024426.6(WT1):c.598A>G (p.Met200Val)
|
|
|
|
NM_024426.6(WT1):c.598A>T (p.Met200Leu)
|
rs1853435610
|
|
|
NM_024426.6(WT1):c.599T>G (p.Met200Arg)
|
rs2133101589
|
|
|
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
|
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
|
NM_024426.6(WT1):c.604C>T (p.Pro202Ser)
|
rs1853435385
|
|
|
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
|
|
|
|
NM_024426.6(WT1):c.609C>G (p.Asn203Lys)
|
rs2234583
|
|
|
NM_024426.6(WT1):c.610G>T (p.Ala204Ser)
|
rs9332973
|
|
|
NM_024426.6(WT1):c.611C>T (p.Ala204Val)
|
rs1277548839
|
|
|
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
|
|
|
|
NM_024426.6(WT1):c.62A>G (p.His21Arg)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.62A>T (p.His21Leu)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.631C>T (p.Leu211Phe)
|
rs1853433365
|
|
|
NM_024426.6(WT1):c.635A>G (p.Glu212Gly)
|
rs2133101294
|
|
|
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
|
|
|
|
NM_024426.6(WT1):c.638G>A (p.Ser213Asn)
|
rs746964440
|
|
|
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
|
|
|
|
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
|
|
|
|
NM_024426.6(WT1):c.649A>C (p.Ile217Leu)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>T (p.Ile217Phe)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.64A>G (p.Thr22Ala)
|
rs2133107584
|
|
|
NM_024426.6(WT1):c.652C>A (p.Arg218Ser)
|
rs2133101131
|
|
|
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
|
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.653G>T (p.Arg218Leu)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.655A>C (p.Asn219His)
|
rs748435329
|
|
|
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
|
|
|
|
NM_024426.6(WT1):c.659A>G (p.Gln220Arg)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.659A>T (p.Gln220Leu)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.65C>A (p.Thr22Lys)
|
|
|
|
NM_024426.6(WT1):c.660G>A (p.Gln220=)
|
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
|
NM_024426.6(WT1):c.661+3A>G
|
|
|
|
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
|
|
|
|
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
|
|
|
|
NM_024426.6(WT1):c.662-3C>T
|
rs1853152059
|
|
|
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
|
|
|
|
NM_024426.6(WT1):c.664T>C (p.Tyr222His)
|
rs746367691
|
|
|
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
|
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
|
NM_024426.6(WT1):c.671C>A (p.Thr224Lys)
|
|
|
|
NM_024426.6(WT1):c.671C>T (p.Thr224Met)
|
rs779451877
|
|
|
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
|
|
|
|
NM_024426.6(WT1):c.676A>C (p.Thr226Pro)
|
rs1853150433
|
|
|
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.677C>T (p.Thr226Ile)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.67C>T (p.Leu23Phe)
|
rs2133107546
|
|
|
NM_024426.6(WT1):c.680T>C (p.Phe227Ser)
|
rs1554945235
|
|
|
NM_024426.6(WT1):c.682G>A (p.Asp228Asn)
|
rs1193052708
|
|
|
NM_024426.6(WT1):c.685G>C (p.Gly229Arg)
|
rs767419243
|
|
|
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
|
|
|
|
NM_024426.6(WT1):c.689C>G (p.Thr230Arg)
|
rs777166391
|
|
|
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser)
|
rs1853148368
|
|
|
NM_024426.6(WT1):c.691C>G (p.Pro231Ala)
|
rs766425764
|
|
|
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
|
|
|
|
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr)
|
rs1853147640
|
|
|
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
|
|
|
|
NM_024426.6(WT1):c.69_70del (p.Arg24fs)
|
|
|
|
NM_024426.6(WT1):c.700G>C (p.Gly234Arg)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.700G>T (p.Gly234Cys)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.707C>T (p.Thr236Met)
|
rs1372808262
|
|
|
NM_024426.6(WT1):c.709C>T (p.Pro237Ser)
|
rs2133075717
|
|
|
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
|
|
|
|
NM_024426.6(WT1):c.70C>G (p.Arg24Gly)
|
|
|
|
NM_024426.6(WT1):c.718C>T (p.His240Tyr)
|
rs2133075605
|
|
|
NM_024426.6(WT1):c.719A>G (p.His240Arg)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.719A>T (p.His240Leu)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
|
|
|
|
NM_024426.6(WT1):c.721G>A (p.Ala241Thr)
|
rs1853145802
|
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
|
NM_024426.6(WT1):c.725C>T (p.Ala242Val)
|
rs1853145265
|
|
|
NM_024426.6(WT1):c.730T>C (p.Phe244Leu)
|
rs771455202
|
|
|
NM_024426.6(WT1):c.733C>T (p.Pro245Ser)
|
rs2133075412
|
|
|
NM_024426.6(WT1):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
|
|
|
|
NM_024426.6(WT1):c.740A>G (p.His247Arg)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.740A>T (p.His247Leu)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
|
|
|
|
NM_024426.6(WT1):c.745T>A (p.Phe249Ile)
|
rs2133075297
|
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
|
NM_024426.6(WT1):c.747C>G (p.Phe249Leu)
|
rs1060501259
|
|
|
NM_024426.6(WT1):c.752A>G (p.His251Arg)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.752A>T (p.His251Leu)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.757G>A (p.Asp253Asn)
|
rs1853142313
|
|
|
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
|
|
|
|
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)
|
rs2234584
|
|
|
NM_024426.6(WT1):c.763A>C (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.763A>T (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.765G>C (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.765G>T (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_024426.6(WT1):c.767G>T (p.Gly256Val)
|
rs1554945190
|
|
|
NM_024426.6(WT1):c.76G>C (p.Gly26Arg)
|
rs1189241211
|
|
|
NM_024426.6(WT1):c.76_80del (p.Gly26fs)
|
|
|
|
NM_024426.6(WT1):c.773A>G (p.Gln258Arg)
|
rs1853140674
|
|
|
NM_024426.6(WT1):c.774G>C (p.Gln258His)
|
rs1853140429
|
|
|
NM_024426.6(WT1):c.776G>A (p.Gly259Asp)
|
rs1311184469
|
|
|
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_024426.6(WT1):c.784+5G>A
|
|
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
|
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
|
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-3C>T
|
rs1590394595
|
|
|
NM_024426.6(WT1):c.785-7T>G
|
rs758280375
|
|
|
NM_024426.6(WT1):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
|
|
|
|
NM_024426.6(WT1):c.795G>C (p.Gln265His)
|
|
|
|
NM_024426.6(WT1):c.796T>C (p.Tyr266His)
|
|
|
|
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
|
|
|
|
NM_024426.6(WT1):c.79C>T (p.Pro27Ser)
|
|
|
|
NM_024426.6(WT1):c.7T>G (p.Phe3Val)
|
|
|
|
NM_024426.6(WT1):c.800C>T (p.Ser267Leu)
|
rs2133073025
|
|
|
NM_024426.6(WT1):c.803T>C (p.Val268Ala)
|
|
|
|
NM_024426.6(WT1):c.806C>T (p.Pro269Leu)
|
rs756078681
|
|
|
NM_024426.6(WT1):c.809C>T (p.Pro270Leu)
|
rs1853120541
|
|
|
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
|
|
|
|
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
|
|
|
|
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)
|
rs200222400
|
|
|
NM_024426.6(WT1):c.830C>A (p.Thr277Asn)
|
rs138073760
|
|
|
NM_024426.6(WT1):c.832C>T (p.Pro278Ser)
|
|
|
|
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
|
|
|
|
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
|
|
|
|
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
|
|
|
|
NM_024426.6(WT1):c.848C>T (p.Thr283Ile)
|
rs776258782
|
|
|
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.854G>C (p.Ser285Thr)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.855C>A (p.Ser285Arg)
|
rs1320428764
|
|
|
NM_024426.6(WT1):c.857A>C (p.Gln286Pro)
|
rs2133072249
|
|
|
NM_024426.6(WT1):c.859G>C (p.Ala287Pro)
|
rs368452754
|
|
|
NM_024426.6(WT1):c.866T>C (p.Leu289Pro)
|
rs2133072199
|
|
|
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
|
|
|
|
NM_024426.6(WT1):c.874A>G (p.Thr292Ala)
|
rs1853114494
|
|
|
NM_024426.6(WT1):c.875C>A (p.Thr292Lys)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.875C>T (p.Thr292Met)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
|
|
|
|
NM_024426.6(WT1):c.87C>A (p.Cys29Ter)
|
rs1554946770
|
|
|
NM_024426.6(WT1):c.883A>G (p.Ser295Gly)
|
rs1853113579
|
|
|
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
|
|
|
|
NM_024426.6(WT1):c.887+15_887+16delinsAA
|
|
|
|
NM_024426.6(WT1):c.887+5del
|
|
|
|
NM_024426.6(WT1):c.888-1G>A
|
|
|
|
NM_024426.6(WT1):c.888-9T>A
|
rs1852720933
|
|
|
NM_024426.6(WT1):c.891C>A (p.Asp297Glu)
|
rs2133037806
|
|
|
NM_024426.6(WT1):c.892A>G (p.Asn298Asp)
|
rs1554943492
|
|
|
NM_024426.6(WT1):c.893A>G (p.Asn298Ser)
|
rs907964605
|
|
|
NM_024426.6(WT1):c.905T>A (p.Met302Lys)
|
rs1208241960
|
|
|
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
|
|
|
|
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
|
|
|
|
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
|
|
|
|
NM_024426.6(WT1):c.916C>A (p.Leu306Ile)
|
rs2133037398
|
|
|
NM_024426.6(WT1):c.919G>C (p.Glu307Gln)
|
rs1852718651
|
|
|
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_024426.6(WT1):c.91C>T (p.Gln31Ter)
|
rs914057243
|
|
|
NM_024426.6(WT1):c.922T>G (p.Cys308Gly)
|
rs1852718495
|
|
|
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
|
|
|
|
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
|
|
|
|
NM_024426.6(WT1):c.941T>C (p.Met314Thr)
|
|
|
|
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
|
|
|
|
NM_024426.6(WT1):c.946T>A (p.Leu316Ile)
|
rs2133036912
|
|
|
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
|
|
|
|
NM_024426.6(WT1):c.953C>G (p.Ala318Gly)
|
rs1201042140
|
|
|
NM_024426.6(WT1):c.955A>G (p.Thr319Ala)
|
rs1852716784
|
|
|
NM_024426.6(WT1):c.956C>A (p.Thr319Asn)
|
rs372630828
|
|
|
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
|
|
|
|
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
|
|
|
|
NM_024426.6(WT1):c.965+5G>A
|
rs2133036572
|
|
|
NM_024426.6(WT1):c.965+6G>A
|
|
|
|
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
|
|
|
|
NM_024426.6(WT1):c.966-1G>A
|
rs773989805
|
|
|
NM_024426.6(WT1):c.966-3T>C
|
|
|
|
NM_024426.6(WT1):c.968T>C (p.Val323Ala)
|
rs1852677213
|
|
|
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
|
|
|
|
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
|
|
|
|
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_024426.6(WT1):c.979A>C (p.Ser327Arg)
|
rs1590373542
|
|
|
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
|
|
|
|
NM_024426.6(WT1):c.987C>G (p.Ser329Arg)
|
rs2133032527
|
|
|
NM_024426.6(WT1):c.988T>C (p.Ser330Pro)
|
rs879279620
|
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|
|
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_024426.6(WT1):c.991G>A (p.Val331Met)
|
|
|
|
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
|
|
|
|
NM_024426.6(WT1):c.996A>T (p.Lys332Asn)
|
rs758410591
|
|
|
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
|
|
|
|
NM_024529.5(CDC73):c.*1056A>C
|
rs548106852
|
|
|
NM_024529.5(CDC73):c.*1075A>G
|
rs886045719
|
|
|
NM_024529.5(CDC73):c.*1144del
|
rs538761780
|
|
|
NM_024529.5(CDC73):c.*1144dup
|
rs538761780
|
|
|
NM_024529.5(CDC73):c.*1296C>G
|
rs1269411417
|
|
|
NM_024529.5(CDC73):c.*1303A>G
|
rs886045723
|
|
|
NM_024529.5(CDC73):c.*1442C>T
|
rs1678053550
|
|
|
NM_024529.5(CDC73):c.*1821G>T
|
rs1678060916
|
|
|
NM_024529.5(CDC73):c.*1858C>G
|
rs886045724
|
|
|
NM_024529.5(CDC73):c.*1956T>C
|
rs886045725
|
|
|
NM_024529.5(CDC73):c.*2043A>T
|
rs886045727
|
|
|
NM_024529.5(CDC73):c.*2131A>T
|
rs886045728
|
|
|
NM_024529.5(CDC73):c.*244T>A
|
rs1678034707
|
|
|
NM_024529.5(CDC73):c.*2639C>G
|
rs1361287206
|
|
|
NM_024529.5(CDC73):c.*3086C>T
|
rs886045733
|
|
|
NM_024529.5(CDC73):c.*3257A>G
|
rs886045734
|
|
|
NM_024529.5(CDC73):c.*3409_*3410del
|
rs886045735
|
|
|
NM_024529.5(CDC73):c.*3542A>G
|
rs886045736
|
|
|
NM_024529.5(CDC73):c.*3695C>G
|
rs1678098304
|
|
|
NM_024529.5(CDC73):c.*3887G>T
|
rs1678101144
|
|
|
NM_024529.5(CDC73):c.*937G>A
|
rs886045715
|
|
|
NM_024529.5(CDC73):c.*94A>G
|
rs547969893
|
|
|
NM_024529.5(CDC73):c.*956T>C
|
rs886045716
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
|
NM_024529.5(CDC73):c.1003C>A (p.Pro335Thr)
|
rs779180488
|
|
|
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)
|
rs779180488
|
|
|
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg)
|
rs1476163101
|
|
|
NM_024529.5(CDC73):c.1004C>T (p.Pro335Leu)
|
|
|
|
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser)
|
rs2103178083
|
|
|
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
|
|
|
|
NM_024529.5(CDC73):c.100A>C (p.Lys34Gln)
|
|
|
|
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro)
|
rs993696396
|
|
|
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
|
|
|
|
NM_024529.5(CDC73):c.1016C>A (p.Pro339Gln)
|
|
|
|
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg)
|
rs1060500018
|
|
|
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu)
|
rs1060500018
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
|
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
|
|
|
|
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser)
|
rs1572196474
|
|
|
NM_024529.5(CDC73):c.102G>C (p.Lys34Asn)
|
|
|
|
NM_024529.5(CDC73):c.1038A>T (p.Gln346His)
|
rs2102038062
|
|
|
NM_024529.5(CDC73):c.1039G>T (p.Ala347Ser)
|
rs1553288361
|
|
|
NM_024529.5(CDC73):c.1040C>T (p.Ala347Val)
|
rs1677289364
|
|
|
NM_024529.5(CDC73):c.1045C>A (p.Pro349Thr)
|
|
|
|
NM_024529.5(CDC73):c.1048C>T (p.Pro350Ser)
|
rs773264613
|
|
|
NM_024529.5(CDC73):c.1049C>T (p.Pro350Leu)
|
rs2102038095
|
|
|
NM_024529.5(CDC73):c.104A>G (p.Asn35Ser)
|
|
|
|
NM_024529.5(CDC73):c.1052C>T (p.Pro351Leu)
|
rs1677289653
|
|
|
NM_024529.5(CDC73):c.1054A>C (p.Asn352His)
|
rs1677289702
|
|
|
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
|
|
|
|
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser)
|
rs1677289748
|
|
|
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn)
|
rs1677289784
|
|
|
NM_024529.5(CDC73):c.1066+3G>A
|
rs2102038126
|
|
|
NM_024529.5(CDC73):c.1067-3T>A
|
rs1572202351
|
|
|
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val)
|
rs2102038477
|
|
|
NM_024529.5(CDC73):c.1069T>C (p.Ser357Pro)
|
|
|
|
NM_024529.5(CDC73):c.1070C>G (p.Ser357Cys)
|
rs2102038479
|
|
|
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala)
|
rs1060500010
|
|
|
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser)
|
rs770734388
|
|
|
NM_024529.5(CDC73):c.1079C>G (p.Pro360Arg)
|
|
|
|
NM_024529.5(CDC73):c.1079C>T (p.Pro360Leu)
|
rs1677295002
|
|
|
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val)
|
rs2102038517
|
|
|
NM_024529.5(CDC73):c.1096G>A (p.Ala366Thr)
|
rs2102038531
|
|
|
NM_024529.5(CDC73):c.10G>C (p.Val4Leu)
|
rs1675463101
|
|
|
NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)
|
|
|
|
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
|
|
|
|
NM_024529.5(CDC73):c.1102A>T (p.Thr368Ser)
|
rs1358233620
|
|
|
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)
|
rs2102038553
|
|
|
NM_024529.5(CDC73):c.110A>G (p.Lys37Arg)
|
rs890428520
|
|
|
NM_024529.5(CDC73):c.1112T>C (p.Leu371Ser)
|
rs2102038560
|
|
|
NM_024529.5(CDC73):c.1114A>C (p.Ile372Leu)
|
|
|
|
NM_024529.5(CDC73):c.111G>C (p.Lys37Asn)
|
rs1355286253
|
|
|
NM_024529.5(CDC73):c.1120A>G (p.Met374Val)
|
rs2102038567
|
|
|
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr)
|
rs1677295843
|
|
|
NM_024529.5(CDC73):c.1129G>C (p.Ala377Pro)
|
|
|
|
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
|
|
|
|
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu)
|
rs1677295923
|
|
|
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
|
|
|
|
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
|
|
|
|
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
|
|
|
|
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val)
|
rs377215814
|
|
|
NM_024529.5(CDC73):c.1154+9T>G
|
|
|
|
NM_024529.5(CDC73):c.1155-17T>G
|
|
|
|
NM_024529.5(CDC73):c.1155A>G (p.Lys385=)
|
rs1572215260
|
|
|
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
|
|
|
|
NM_024529.5(CDC73):c.1162C>G (p.Pro388Ala)
|
rs1470371131
|
|
|
NM_024529.5(CDC73):c.1162C>T (p.Pro388Ser)
|
|
|
|
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu)
|
rs2102058240
|
|
|
NM_024529.5(CDC73):c.1165T>A (p.Ser389Thr)
|
rs1677687458
|
|
|
NM_024529.5(CDC73):c.1168G>C (p.Asp390His)
|
rs1677687568
|
|
|
NM_024529.5(CDC73):c.1171G>A (p.Glu391Lys)
|
rs2102058252
|
|
|
NM_024529.5(CDC73):c.1176G>C (p.Lys392Asn)
|
rs767993995
|
|
|
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del)
|
rs1677687636
|
|
|
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu)
|
rs374856513
|
|
|
NM_024529.5(CDC73):c.1186G>A (p.Gly396Ser)
|
rs866793539
|
|
|
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
|
|
|
|
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
|
|
|
|
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
|
|
|
|
NM_024529.5(CDC73):c.1193A>G (p.Gln398Arg)
|
rs878855088
|
|
|
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu)
|
rs878855088
|
|
|
NM_024529.5(CDC73):c.1195C>G (p.Arg399Gly)
|
rs1677688362
|
|
|
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
|
|
|
|
NM_024529.5(CDC73):c.119A>G (p.Tyr40Cys)
|
rs1019931450
|
|
|
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
|
|
|
|
NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)
|
|
|
|
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile)
|
rs1677688538
|
|
|
NM_024529.5(CDC73):c.121G>C (p.Val41Leu)
|
|
|
|
NM_024529.5(CDC73):c.121GTT[1] (p.Val42del)
|
rs2103111771
|
|
|
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys)
|
rs1572215316
|
|
|
NM_024529.5(CDC73):c.1222A>G (p.Arg408Gly)
|
rs1677688718
|
|
|
NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)
|
|
|
|
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro)
|
rs1242516197
|
|
|
NM_024529.5(CDC73):c.1234A>C (p.Met412Leu)
|
rs752959843
|
|
|
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu)
|
rs752959843
|
|
|
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu)
|
rs1553291031
|
|
|
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
|
|
|
|
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser)
|
rs1297552782
|
|
|
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
|
|
|
|
NM_024529.5(CDC73):c.1246G>C (p.Gly416Arg)
|
rs2102058377
|
|
|
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala)
|
rs1553291033
|
|
|
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro)
|
rs1572215351
|
|
|
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)
|
rs1572215351
|
|
|
NM_024529.5(CDC73):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys)
|
rs1677690233
|
|
|
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly)
|
rs2102058411
|
|
|
NM_024529.5(CDC73):c.1279G>A (p.Val427Ile)
|
rs2102058420
|
|
|
NM_024529.5(CDC73):c.1282G>A (p.Val428Ile)
|
|
|
|
NM_024529.5(CDC73):c.1283T>C (p.Val428Ala)
|
|
|
|
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe)
|
rs2102058450
|
|
|
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
|
|
|
|
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg)
|
rs1344996460
|
|
|
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu)
|
rs1344996460
|
|
|
NM_024529.5(CDC73):c.131+11_131+12delinsAC
|
|
|
|
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu)
|
rs2102058489
|
|
|
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
|
|
|
|
NM_024529.5(CDC73):c.1316+4A>G
|
rs2102058500
|
|
|
NM_024529.5(CDC73):c.1316+6A>T
|
rs2102058502
|
|
|
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
|
|
|
|
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
|
|
|
|
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
|
|
|
|
NM_024529.5(CDC73):c.1322G>A (p.Arg441His)
|
rs778432682
|
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
|
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
|
|
|
|
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
|
|
|
|
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
|
|
|
|
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
|
|
|
|
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg)
|
rs1444457760
|
|
|
NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)
|
|
|
|
NM_024529.5(CDC73):c.1381T>G (p.Leu461Val)
|
|
|
|
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)
|
rs1199579887
|
|
|
NM_024529.5(CDC73):c.1385C>G (p.Pro462Arg)
|
rs1572217735
|
|
|
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
|
|
|
|
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
|
|
|
|
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
|
|
|
|
NM_024529.5(CDC73):c.13C>T (p.Leu5Phe)
|
rs1296841626
|
|
|
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr)
|
rs1677757493
|
|
|
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr)
|
rs1677757603
|
|
|
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu)
|
rs1677757689
|
|
|
NM_024529.5(CDC73):c.1417+5G>T
|
rs2102061922
|
|
|
NM_024529.5(CDC73):c.1418-3T>C
|
rs1678015232
|
|
|
NM_024529.5(CDC73):c.1432C>G (p.Leu478Val)
|
rs1060500025
|
|
|
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp)
|
rs1553292962
|
|
|
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr)
|
rs1678015613
|
|
|
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys)
|
rs2102073303
|
|
|
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp)
|
rs2103113897
|
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
|
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys)
|
rs200806263
|
|
|
NM_024529.5(CDC73):c.1460C>T (p.Pro487Leu)
|
rs1678015855
|
|
|
NM_024529.5(CDC73):c.1462A>C (p.Asn488His)
|
|
|
|
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
|
|
|
|
NM_024529.5(CDC73):c.1465G>C (p.Val489Leu)
|
rs2102073378
|
|
|
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg)
|
rs2102073385
|
|
|
NM_024529.5(CDC73):c.1470G>C (p.Gln490His)
|
|
|
|
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu)
|
rs2102073386
|
|
|
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile)
|
rs2102073388
|
|
|
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys)
|
rs2102073392
|
|
|
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile)
|
rs1199025166
|
|
|
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala)
|
rs1558326136
|
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
|
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu)
|
rs2103113904
|
|
|
NM_024529.5(CDC73):c.149A>G (p.Gln50Arg)
|
rs1276311364
|
|
|
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His)
|
rs1553292970
|
|
|
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys)
|
rs1292596060
|
|
|
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr)
|
rs1558326147
|
|
|
NM_024529.5(CDC73):c.1519G>T (p.Asp507Tyr)
|
rs1678017026
|
|
|
NM_024529.5(CDC73):c.151C>T (p.Pro51Ser)
|
rs540541696
|
|
|
NM_024529.5(CDC73):c.1520A>T (p.Asp507Val)
|
rs2102073531
|
|
|
NM_024529.5(CDC73):c.1521T>C (p.Asp507=)
|
rs1476554322
|
|
|
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_024529.5(CDC73):c.1528G>A (p.Val510Met)
|
|
|
|
NM_024529.5(CDC73):c.1528G>C (p.Val510Leu)
|
|
|
|
NM_024529.5(CDC73):c.1529T>C (p.Val510Ala)
|
rs2102073560
|
|
|
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)
|
rs1060500011
|
|
|
NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)
|
|
|
|
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile)
|
rs1678017409
|
|
|
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly)
|
rs1553292974
|
|
|
NM_024529.5(CDC73):c.1559+16A>G
|
rs2102073684
|
|
|
NM_024529.5(CDC73):c.1559+4A>T
|
rs1001095861
|
|
|
NM_024529.5(CDC73):c.1560G>A (p.Arg520=)
|
rs1487870537
|
|
|
NM_024529.5(CDC73):c.1564A>T (p.Met522Leu)
|
rs751152405
|
|
|
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu)
|
rs1558326418
|
|
|
NM_024529.5(CDC73):c.156A>G (p.Arg52=)
|
rs886045712
|
|
|
NM_024529.5(CDC73):c.1576A>G (p.Lys526Glu)
|
|
|
|
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer)
|
rs1368184407
|
|
|
NM_024529.5(CDC73):c.1587G>C (p.Leu529Phe)
|
|
|
|
NM_024529.5(CDC73):c.158A>G (p.Glu53Gly)
|
rs1572142551
|
|
|
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
|
|
|
|
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
|
|
|
|
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys)
|
rs2103113933
|
|
|
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
|
|
|
|
NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)
|
|
|
|
NM_024529.5(CDC73):c.178A>G (p.Ile60Val)
|
rs1572142567
|
|
|
NM_024529.5(CDC73):c.178A>T (p.Ile60Phe)
|
|
|
|
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
|
|
|
|
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
|
|
|
|
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
|
|
|
|
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
|
|
|
|
NM_024529.5(CDC73):c.193A>C (p.Asn65His)
|
rs2103113994
|
|
|
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp)
|
rs1675542823
|
|
|
NM_024529.5(CDC73):c.196A>T (p.Asn66Tyr)
|
|
|
|
NM_024529.5(CDC73):c.202C>T (p.His68Tyr)
|
|
|
|
NM_024529.5(CDC73):c.203A>C (p.His68Pro)
|
|
|
|
NM_024529.5(CDC73):c.205C>G (p.Leu69Val)
|
rs1675543142
|
|
|
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe)
|
rs1675543142
|
|
|
NM_024529.5(CDC73):c.211C>G (p.His71Asp)
|
rs2103114010
|
|
|
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
|
|
|
|
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
|
|
|
|
NM_024529.5(CDC73):c.230G>A (p.Arg77His)
|
rs1572142617
|
|
|
NM_024529.5(CDC73):c.230G>C (p.Arg77Pro)
|
rs1572142617
|
|
|
NM_024529.5(CDC73):c.230G>T (p.Arg77Leu)
|
|
|
|
NM_024529.5(CDC73):c.233C>G (p.Ala78Gly)
|
|
|
|
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_024529.5(CDC73):c.237+5G>A
|
rs1675543609
|
|
|
NM_024529.5(CDC73):c.238-14A>G
|
rs2103117745
|
|
|
NM_024529.5(CDC73):c.238-6T>A
|
rs1675669973
|
|
|
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala)
|
rs2103117767
|
|
|
NM_024529.5(CDC73):c.244A>G (p.Asn82Asp)
|
rs2103117785
|
|
|
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser)
|
rs754686636
|
|
|
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
|
|
|
|
NM_024529.5(CDC73):c.258T>C (p.Val86=)
|
rs1060500023
|
|
|
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln)
|
rs2103111603
|
|
|
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
|
|
|
|
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro)
|
rs2103117916
|
|
|
NM_024529.5(CDC73):c.295A>G (p.Asn99Asp)
|
rs2103117949
|
|
|
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser)
|
rs1060500017
|
|
|
NM_024529.5(CDC73):c.299G>A (p.Gly100Asp)
|
|
|
|
NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)
|
|
|
|
NM_024529.5(CDC73):c.29A>T (p.Gln10Leu)
|
rs2103111611
|
|
|
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys)
|
rs772376553
|
|
|
NM_024529.5(CDC73):c.304G>A (p.Ala102Thr)
|
rs1675671504
|
|
|
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser)
|
rs1675671504
|
|
|
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
|
|
|
|
NM_024529.5(CDC73):c.307+3G>A
|
|
|
|
NM_024529.5(CDC73):c.307+5G>A
|
|
|
|
NM_024529.5(CDC73):c.307+5G>C
|
|
|
|
NM_024529.5(CDC73):c.307+5G>T
|
rs2103117996
|
|
|
NM_024529.5(CDC73):c.307+9T>G
|
|
|
|
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro)
|
rs1675671751
|
|
|
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser)
|
rs1675773683
|
|
|
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)
|
rs1675773790
|
|
|
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly)
|
rs1374821216
|
|
|
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
|
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
|
|
|
|
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe)
|
rs1675774810
|
|
|
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
|
|
|
|
NM_024529.5(CDC73):c.349G>A (p.Gly117Ser)
|
rs1675774944
|
|
|
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
|
|
|
|
NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)
|
|
|
|
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln)
|
rs2103121520
|
|
|
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
|
|
|
|
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
|
|
|
|
NM_024529.5(CDC73):c.370+3A>G
|
|
|
|
NM_024529.5(CDC73):c.371-5TA[3]
|
rs1553278836
|
|
|
NM_024529.5(CDC73):c.371-6T>A
|
rs1060500024
|
|
|
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr)
|
rs1455915064
|
|
|
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
|
|
|
|
NM_024529.5(CDC73):c.377G>A (p.Arg126Gln)
|
rs1675777366
|
|
|
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr)
|
rs1675777420
|
|
|
NM_024529.5(CDC73):c.37A>G (p.Ile13Val)
|
rs762220544
|
|
|
NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)
|
|
|
|
NM_024529.5(CDC73):c.380C>T (p.Ala127Val)
|
rs1558282443
|
|
|
NM_024529.5(CDC73):c.386A>G (p.Asp129Gly)
|
rs1675777865
|
|
|
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
|
|
|
|
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
|
|
|
|
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly)
|
rs1675778193
|
|
|
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr)
|
rs369542555
|
|
|
NM_024529.5(CDC73):c.412C>G (p.Pro138Ala)
|
|
|
|
NM_024529.5(CDC73):c.413C>T (p.Pro138Leu)
|
rs2103121717
|
|
|
NM_024529.5(CDC73):c.419T>G (p.Ile140Ser)
|
rs1675778444
|
|
|
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
|
|
|
|
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg)
|
rs767638609
|
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTNNNNNNN
|
rs2103121762
|
|
|
NM_024529.5(CDC73):c.423+6G>A
|
|
|
|
NM_024529.5(CDC73):c.423+6G>T
|
|
|
|
NM_024529.5(CDC73):c.423G>A (p.Glu141=)
|
rs1291044007
|
|
|
NM_024529.5(CDC73):c.424-14G>A
|
|
|
|
NM_024529.5(CDC73):c.424-15A>G
|
|
|
|
NM_024529.5(CDC73):c.430G>A (p.Glu144Lys)
|
rs1558283535
|
|
|
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg)
|
rs1675832296
|
|
|
NM_024529.5(CDC73):c.434G>A (p.Cys145Tyr)
|
|
|
|
NM_024529.5(CDC73):c.436G>C (p.Val146Leu)
|
|
|
|
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del)
|
rs1572139757
|
|
|
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys)
|
rs2103123773
|
|
|
NM_024529.5(CDC73):c.467G>A (p.Arg156His)
|
rs1572152406
|
|
|
NM_024529.5(CDC73):c.46A>G (p.Lys16Glu)
|
rs1675464429
|
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
|
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
|
|
|
|
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
|
|
|
|
NM_024529.5(CDC73):c.512+3A>C
|
rs1558283570
|
|
|
NM_024529.5(CDC73):c.512+4A>C
|
|
|
|
NM_024529.5(CDC73):c.512+6A>C
|
|
|
|
NM_024529.5(CDC73):c.512+6A>G
|
|
|
|
NM_024529.5(CDC73):c.513-10T>C
|
|
|
|
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
|
|
|
|
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
|
|
|
|
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
|
|
|
|
NM_024529.5(CDC73):c.55G>A (p.Val19Met)
|
rs1060500013
|
|
|
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
|
|
|
|
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
|
|
|
|
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
|
|
|
|
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
|
|
|
|
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
|
|
|
|
NM_024529.5(CDC73):c.617C>G (p.Thr206Ser)
|
|
|
|
NM_024529.5(CDC73):c.619G>A (p.Ala207Thr)
|
rs1060500016
|
|
|
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
|
|
|
|
NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)
|
|
|
|
NM_024529.5(CDC73):c.640G>A (p.Val214Met)
|
rs1675913675
|
|
|
NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)
|
|
|
|
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
|
|
|
|
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)
|
rs886045713
|
|
|
NM_024529.5(CDC73):c.65G>A (p.Gly22Glu)
|
|
|
|
NM_024529.5(CDC73):c.65G>C (p.Gly22Ala)
|
rs1675465059
|
|
|
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln)
|
rs1572154825
|
|
|
NM_024529.5(CDC73):c.670A>G (p.Ile224Val)
|
rs1675914120
|
|
|
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly)
|
rs2103126362
|
|
|
NM_024529.5(CDC73):c.684G>C (p.Glu228Asp)
|
rs368708158
|
|
|
NM_024529.5(CDC73):c.687A>G (p.Arg229=)
|
rs1675914685
|
|
|
NM_024529.5(CDC73):c.687A>T (p.Arg229Ser)
|
rs1675914685
|
|
|
NM_024529.5(CDC73):c.688G>A (p.Val230Ile)
|
rs2103126383
|
|
|
NM_024529.5(CDC73):c.689T>A (p.Val230Glu)
|
rs1558285020
|
|
|
NM_024529.5(CDC73):c.689T>C (p.Val230Ala)
|
rs1558285020
|
|
|
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg)
|
rs1060500022
|
|
|
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala)
|
rs2103126444
|
|
|
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
|
|
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
|
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala)
|
rs1572154890
|
|
|
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
|
|
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
|
NM_024529.5(CDC73):c.729+3A>G
|
|
|
|
NM_024529.5(CDC73):c.729+5T>C
|
|
|
|
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn)
|
rs2103126521
|
|
|
NM_024529.5(CDC73):c.730-5T>C
|
rs2103130512
|
|
|
NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)
|
|
|
|
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)
|
rs368199363
|
|
|
NM_024529.5(CDC73):c.733T>G (p.Phe245Val)
|
rs2103130516
|
|
|
NM_024529.5(CDC73):c.745A>G (p.Ile249Val)
|
|
|
|
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr)
|
rs973863694
|
|
|
NM_024529.5(CDC73):c.748T>A (p.Phe250Ile)
|
rs2103130536
|
|
|
NM_024529.5(CDC73):c.751G>A (p.Ala251Thr)
|
rs1676029137
|
|
|
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly)
|
rs2103130541
|
|
|
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg)
|
rs2103130545
|
|
|
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
|
|
|
|
NM_024529.5(CDC73):c.766G>A (p.Val256Ile)
|
rs1472498930
|
|
|
NM_024529.5(CDC73):c.76A>G (p.Ile26Val)
|
rs1675465327
|
|
|
NM_024529.5(CDC73):c.779AAG[1] (p.Glu261del)
|
|
|
|
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
|
|
|
|
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
|
|
|
|
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
|
|
|
|
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg)
|
rs2103130586
|
|
|
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro)
|
rs750706815
|
|
|
NM_024529.5(CDC73):c.805C>A (p.Pro269Thr)
|
rs1572158663
|
|
|
NM_024529.5(CDC73):c.805C>T (p.Pro269Ser)
|
rs1572158663
|
|
|
NM_024529.5(CDC73):c.809C>A (p.Ala270Asp)
|
rs981067363
|
|
|
NM_024529.5(CDC73):c.809_826del (p.Ala270_Pro275del)
|
|
|
|
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)
|
rs765029460
|
|
|
NM_024529.5(CDC73):c.811C>T (p.Pro271Ser)
|
rs765029460
|
|
|
NM_024529.5(CDC73):c.812C>G (p.Pro271Arg)
|
|
|
|
NM_024529.5(CDC73):c.814A>G (p.Asn272Asp)
|
|
|
|
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile)
|
rs752383339
|
|
|
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys)
|
rs2103130616
|
|
|
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
|
|
|
|
NM_024529.5(CDC73):c.818C>T (p.Ala273Val)
|
rs2103130620
|
|
|
NM_024529.5(CDC73):c.828+4A>G
|
rs777621924
|
|
|
NM_024529.5(CDC73):c.828G>A (p.Val276=)
|
rs1558287563
|
|
|
NM_024529.5(CDC73):c.829-12A>G
|
|
|
|
NM_024529.5(CDC73):c.832C>A (p.Pro278Thr)
|
|
|
|
NM_024529.5(CDC73):c.833C>A (p.Pro278His)
|
rs1676083095
|
|
|
NM_024529.5(CDC73):c.833C>T (p.Pro278Leu)
|
rs1676083095
|
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
|
NM_024529.5(CDC73):c.838T>A (p.Leu280Met)
|
|
|
|
NM_024529.5(CDC73):c.83G>A (p.Gly28Glu)
|
|
|
|
NM_024529.5(CDC73):c.83G>C (p.Gly28Ala)
|
rs1054465259
|
|
|
NM_024529.5(CDC73):c.842G>T (p.Arg281Leu)
|
|
|
|
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
|
|
|
|
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser)
|
rs369024183
|
|
|
NM_024529.5(CDC73):c.848A>C (p.Lys283Thr)
|
rs1676083588
|
|
|
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
|
|
|
|
NM_024529.5(CDC73):c.852G>C (p.Gln284His)
|
rs773602413
|
|
|
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
|
|
|
|
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu)
|
rs1131691352
|
|
|
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
|
|
|
|
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser)
|
rs2103132204
|
|
|
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp)
|
rs752004076
|
|
|
NM_024529.5(CDC73):c.880G>C (p.Asp294His)
|
rs2103132225
|
|
|
NM_024529.5(CDC73):c.881A>G (p.Asp294Gly)
|
rs1572160332
|
|
|
NM_024529.5(CDC73):c.892T>G (p.Phe298Val)
|
rs1676084476
|
|
|
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
|
|
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
|
NM_024529.5(CDC73):c.907+2C>T
|
|
|
|
NM_024529.5(CDC73):c.907+4A>G
|
rs768964233
|
|
|
NM_024529.5(CDC73):c.907+6T>A
|
rs2103132269
|
|
|
NM_024529.5(CDC73):c.908-10T>A
|
rs1676129844
|
|
|
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
|
|
|
|
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp)
|
rs2103133623
|
|
|
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
|
|
|
|
NM_024529.5(CDC73):c.923A>C (p.Lys308Thr)
|
|
|
|
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg)
|
rs376649069
|
|
|
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr)
|
rs1558276199
|
|
|
NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)
|
|
|
|
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys)
|
rs1676130837
|
|
|
NM_024529.5(CDC73):c.972+3A>G
|
rs1676130958
|
|
|
NM_024529.5(CDC73):c.972G>A (p.Thr324=)
|
rs369930569
|
|
|
NM_024529.5(CDC73):c.973-6T>C
|
rs1677131770
|
|
|
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser)
|
rs2103178025
|
|
|
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
|
|
|
|
NM_024529.5(CDC73):c.980C>T (p.Ala327Val)
|
rs1677131810
|
|
|
NM_024529.5(CDC73):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser)
|
rs1436120903
|
|
|
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp)
|
rs1244272523
|
|
|
NM_024529.5(CDC73):c.989G>T (p.Arg330Leu)
|
rs149875598
|
|
|
NM_024529.5(CDC73):c.990G>T (p.Arg330=)
|
rs1677132126
|
|
|
NM_024529.5(CDC73):c.993G>C (p.Lys331Asn)
|
|
|
|
NM_024529.5(CDC73):c.994A>T (p.Thr332Ser)
|
rs1572196406
|
|
|
NM_024535.5(CORO7):c.2772+50C>T
|
rs1555468179
|
|
|
NM_024603.4(BEND5):c.1210A>G (p.Ile404Val)
|
rs193921115
|
|
|
NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs)
|
rs1472145598
|
|
|
NM_024675.3(PALB2):c.-200_*297dup4058
|
|
|
|
NM_024675.3(PALB2):c.2587-2A>G
|
rs1060502787
|
|
|
NM_024675.4(PALB2):c.1004A>T (p.Asn335Ile)
|
rs1368473544
|
|
|
NM_024675.4(PALB2):c.1006A>G (p.Asn336Asp)
|
rs1060502774
|
|
|
NM_024675.4(PALB2):c.1011A>T (p.Leu337Phe)
|
|
|
|
NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1012C>G (p.Pro338Ala)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1015G>A (p.Ala339Thr)
|
|
|
|
NM_024675.4(PALB2):c.1016C>T (p.Ala339Val)
|
|
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
|
NM_024675.4(PALB2):c.1028A>G (p.Gln343Arg)
|
|
|
|
NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp)
|
rs786202850
|
|
|
NM_024675.4(PALB2):c.1031A>C (p.Asn344Thr)
|
rs1567221791
|
|
|
NM_024675.4(PALB2):c.1034T>C (p.Leu345Ser)
|
rs781757934
|
|
|
NM_024675.4(PALB2):c.1039G>C (p.Glu347Gln)
|
rs1060499812
|
|
|
NM_024675.4(PALB2):c.1040A>G (p.Glu347Gly)
|
rs2142427838
|
|
|
NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr)
|
rs1567221740
|
|
|
NM_024675.4(PALB2):c.1048C>A (p.Gln350Lys)
|
|
|
|
NM_024675.4(PALB2):c.1048C>G (p.Gln350Glu)
|
rs1060502788
|
|
|
NM_024675.4(PALB2):c.1049A>T (p.Gln350Leu)
|
rs1567221732
|
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
|
NM_024675.4(PALB2):c.1052C>G (p.Thr351Arg)
|
rs876658656
|
|
|
NM_024675.4(PALB2):c.1052C>T (p.Thr351Ile)
|
rs876658656
|
|
|
NM_024675.4(PALB2):c.1057A>G (p.Lys353Glu)
|
rs878855096
|
|
|
NM_024675.4(PALB2):c.1060T>A (p.Ser354Thr)
|
rs1567221680
|
|
|
NM_024675.4(PALB2):c.1060T>G (p.Ser354Ala)
|
rs1567221680
|
|
|
NM_024675.4(PALB2):c.1061C>A (p.Ser354Tyr)
|
rs1555461474
|
|
|
NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys)
|
rs1555461474
|
|
|
NM_024675.4(PALB2):c.1063T>G (p.Leu355Val)
|
rs1555461473
|
|
|
NM_024675.4(PALB2):c.1064T>C (p.Leu355Ser)
|
rs1597097263
|
|
|
NM_024675.4(PALB2):c.1067A>C (p.Lys356Thr)
|
|
|
|
NM_024675.4(PALB2):c.106C>A (p.Gln36Lys)
|
rs757369748
|
|
|
NM_024675.4(PALB2):c.1070C>G (p.Ser357Cys)
|
rs1555461469
|
|
|
NM_024675.4(PALB2):c.1070C>T (p.Ser357Phe)
|
rs1555461469
|
|
|
NM_024675.4(PALB2):c.1072C>G (p.Pro358Ala)
|
rs876660876
|
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
|
|
NM_024675.4(PALB2):c.1073C>A (p.Pro358His)
|
rs1555461462
|
|
|
NM_024675.4(PALB2):c.1076G>C (p.Ser359Thr)
|
|
|
|
NM_024675.4(PALB2):c.1079A>C (p.Asp360Ala)
|
|
|
|
NM_024675.4(PALB2):c.108+4A>G
|
rs1555462100
|
|
|
NM_024675.4(PALB2):c.1081A>G (p.Thr361Ala)
|
rs111981798
|
|
|
NM_024675.4(PALB2):c.1081A>T (p.Thr361Ser)
|
rs111981798
|
|
|
NM_024675.4(PALB2):c.1082C>A (p.Thr361Asn)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082C>T (p.Thr361Ile)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082_1120del (p.Thr361_Glu373del)
|
rs1555461441
|
|
|
NM_024675.4(PALB2):c.1084C>G (p.Leu362Val)
|
rs1060502758
|
|
|
NM_024675.4(PALB2):c.1085T>C (p.Leu362Pro)
|
rs875989793
|
|
|
NM_024675.4(PALB2):c.1085T>G (p.Leu362Arg)
|
rs875989793
|
|
|
NM_024675.4(PALB2):c.108G>A (p.Gln36=)
|
rs1567224146
|
|
|
NM_024675.4(PALB2):c.108G>C (p.Gln36His)
|
|
|
|
NM_024675.4(PALB2):c.109-39A>C
|
|
|
|
NM_024675.4(PALB2):c.109-4_109-3del
|
|
|
|
NM_024675.4(PALB2):c.1091G>A (p.Gly364Asp)
|
rs758500775
|
|
|
NM_024675.4(PALB2):c.1095G>C (p.Arg365Ser)
|
rs515726062
|
|
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
rs786204080
|
|
|
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)
|
rs554849907
|
|
|
NM_024675.4(PALB2):c.1099G>A (p.Glu367Lys)
|
rs1966993880
|
|
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
rs200048921
|
|
|
NM_024675.4(PALB2):c.10C>A (p.Pro4Thr)
|
rs587782483
|
|
|
NM_024675.4(PALB2):c.10C>G (p.Pro4Ala)
|
|
|
|
NM_024675.4(PALB2):c.1100A>G (p.Glu367Gly)
|
|
|
|
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)
|
rs1060502799
|
|
|
NM_024675.4(PALB2):c.1106T>C (p.Leu369Pro)
|
rs1966993516
|
|
|
NM_024675.4(PALB2):c.1108C>A (p.Gln370Lys)
|
rs587776411
|
|
|
NM_024675.4(PALB2):c.1109A>G (p.Gln370Arg)
|
rs1555461447
|
|
|
NM_024675.4(PALB2):c.110G>T (p.Arg37Leu)
|
rs202194596
|
|
|
NM_024675.4(PALB2):c.1114A>G (p.Ser372Gly)
|
rs587782657
|
|
|
NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn)
|
rs786204243
|
|
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
rs786204243
|
|
|
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr)
|
rs1567221558
|
|
|
NM_024675.4(PALB2):c.1123C>G (p.Leu375Val)
|
rs373298267
|
|
|
NM_024675.4(PALB2):c.1126A>T (p.Ser376Cys)
|
rs1966991786
|
|
|
NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr)
|
rs587782200
|
|
|
NM_024675.4(PALB2):c.1128T>A (p.Ser376Arg)
|
rs587780204
|
|
|
NM_024675.4(PALB2):c.112G>C (p.Ala38Pro)
|
|
|
|
NM_024675.4(PALB2):c.1133C>G (p.Pro378Arg)
|
rs1442895662
|
|
|
NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu)
|
rs1442895662
|
|
|
NM_024675.4(PALB2):c.1135A>G (p.Lys379Glu)
|
|
|
|
NM_024675.4(PALB2):c.1139G>A (p.Ser380Asn)
|
rs876659887
|
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
|
NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe)
|
rs1555461435
|
|
|
NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg)
|
rs1060502737
|
|
|
NM_024675.4(PALB2):c.1145G>C (p.Ser382Thr)
|
|
|
|
NM_024675.4(PALB2):c.1147C>A (p.Leu383Met)
|
rs2142424566
|
|
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
rs1567221497
|
|
|
NM_024675.4(PALB2):c.1150G>C (p.Glu384Gln)
|
rs1567221497
|
|
|
NM_024675.4(PALB2):c.1152A>C (p.Glu384Asp)
|
|
|
|
NM_024675.4(PALB2):c.1153G>A (p.Ala385Thr)
|
rs1966990156
|
|
|
NM_024675.4(PALB2):c.1156A>T (p.Thr386Ser)
|
rs148102335
|
|
|
NM_024675.4(PALB2):c.1157C>G (p.Thr386Ser)
|
rs876660840
|
|
|
NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile)
|
|
|
|
NM_024675.4(PALB2):c.115C>G (p.Gln39Glu)
|
|
|
|
NM_024675.4(PALB2):c.1160C>G (p.Ser387Cys)
|
rs587781863
|
|
|
NM_024675.4(PALB2):c.1160C>T (p.Ser387Phe)
|
rs587781863
|
|
|
NM_024675.4(PALB2):c.1160CTC[1] (p.Pro388del)
|
rs1306677139
|
|
|
NM_024675.4(PALB2):c.1160CTC[3] (p.Pro388dup)
|
rs1306677139
|
|
|
NM_024675.4(PALB2):c.1162C>T (p.Pro388Ser)
|
rs1567221468
|
|
|
NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu)
|
rs1597096898
|
|
|
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)
|
rs1555461427
|
|
|
NM_024675.4(PALB2):c.1165C>T (p.Leu389Phe)
|
rs1555461427
|
|
|
NM_024675.4(PALB2):c.1166T>C (p.Leu389Pro)
|
rs1567221452
|
|
|
NM_024675.4(PALB2):c.1169C>A (p.Ser390Tyr)
|
rs1555461425
|
|
|
NM_024675.4(PALB2):c.1169C>G (p.Ser390Cys)
|
|
|
|
NM_024675.4(PALB2):c.116A>G (p.Gln39Arg)
|
|
|
|
NM_024675.4(PALB2):c.116A>T (p.Gln39Leu)
|
rs1555462083
|
|
|
NM_024675.4(PALB2):c.1171G>T (p.Ala391Ser)
|
rs2142423854
|
|
|
NM_024675.4(PALB2):c.1175A>G (p.Glu392Gly)
|
rs1555461424
|
|
|
NM_024675.4(PALB2):c.1177A>C (p.Lys393Gln)
|
rs866787789
|
|
|
NM_024675.4(PALB2):c.1177A>G (p.Lys393Glu)
|
rs866787789
|
|
|
NM_024675.4(PALB2):c.1179A>C (p.Lys393Asn)
|
|
|
|
NM_024675.4(PALB2):c.117A>G (p.Gln39=)
|
rs1967104762
|
|
|
NM_024675.4(PALB2):c.1180C>T (p.His394Tyr)
|
rs1567221411
|
|
|
NM_024675.4(PALB2):c.1181A>C (p.His394Pro)
|
|
|
|
NM_024675.4(PALB2):c.1183T>C (p.Ser395Pro)
|
rs1966987344
|
|
|
NM_024675.4(PALB2):c.1186T>C (p.Cys396Arg)
|
rs2142423404
|
|
|
NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr)
|
rs2142423374
|
|
|
NM_024675.4(PALB2):c.1188C>G (p.Cys396Trp)
|
rs587780817
|
|
|
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)
|
rs367578415
|
|
|
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala)
|
rs367578415
|
|
|
NM_024675.4(PALB2):c.1190C>T (p.Thr397Ile)
|
rs587781319
|
|
|
NM_024675.4(PALB2):c.1192G>C (p.Val398Leu)
|
|
|
|
NM_024675.4(PALB2):c.1193T>G (p.Val398Gly)
|
rs1461956026
|
|
|
NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu)
|
rs776115183
|
|
|
NM_024675.4(PALB2):c.1199A>G (p.Glu400Gly)
|
rs2142422950
|
|
|
NM_024675.4(PALB2):c.119_120delinsTT (p.Arg40Ile)
|
rs1064794085
|
|
|
NM_024675.4(PALB2):c.1200A>C (p.Glu400Asp)
|
|
|
|
NM_024675.4(PALB2):c.1200A>T (p.Glu400Asp)
|
rs1966985747
|
|
|
NM_024675.4(PALB2):c.1202G>A (p.Gly401Asp)
|
|
|
|
NM_024675.4(PALB2):c.1204C>A (p.Leu402Ile)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1204C>G (p.Leu402Val)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1204C>T (p.Leu402Phe)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1206_1208del (p.Leu403del)
|
rs2142422725
|
|
|
NM_024675.4(PALB2):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_024675.4(PALB2):c.1208T>G (p.Leu403Arg)
|
rs1567221341
|
|
|
NM_024675.4(PALB2):c.1212T>A (p.Phe404Leu)
|
|
|
|
NM_024675.4(PALB2):c.1214C>T (p.Pro405Leu)
|
rs1555461396
|
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
|
NM_024675.4(PALB2):c.121G>C (p.Ala41Pro)
|
rs2142457610
|
|
|
NM_024675.4(PALB2):c.1220A>G (p.Glu407Gly)
|
rs1597096676
|
|
|
NM_024675.4(PALB2):c.1222T>C (p.Tyr408His)
|
rs515726064
|
|
|
NM_024675.4(PALB2):c.1222T>G (p.Tyr408Asp)
|
rs515726064
|
|
|
NM_024675.4(PALB2):c.1223A>G (p.Tyr408Cys)
|
rs779251679
|
|
|
NM_024675.4(PALB2):c.1225T>C (p.Tyr409His)
|
rs1064793222
|
|
|
NM_024675.4(PALB2):c.1225T>G (p.Tyr409Asp)
|
|
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
|
NM_024675.4(PALB2):c.1226A>T (p.Tyr409Phe)
|
rs878855097
|
|
|
NM_024675.4(PALB2):c.122C>T (p.Ala41Val)
|
rs1597101507
|
|
|
NM_024675.4(PALB2):c.1232G>A (p.Arg411Lys)
|
rs926278722
|
|
|
NM_024675.4(PALB2):c.1235C>T (p.Thr412Ile)
|
|
|
|
NM_024675.4(PALB2):c.1237A>C (p.Thr413Pro)
|
rs1335631200
|
|
|
NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg)
|
rs876660213
|
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
|
NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg)
|
rs1555461376
|
|
|
NM_024675.4(PALB2):c.1244G>C (p.Ser415Thr)
|
rs2142421697
|
|
|
NM_024675.4(PALB2):c.1245C>A (p.Ser415Arg)
|
rs1966982144
|
|
|
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)
|
rs786202943
|
|
|
NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser)
|
rs1784498384
|
|
|
NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg)
|
|
|
|
NM_024675.4(PALB2):c.1256G>T (p.Cys419Phe)
|
rs866387173
|
|
|
NM_024675.4(PALB2):c.1262G>C (p.Arg421Thr)
|
rs2142421169
|
|
|
NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup)
|
rs1567221237
|
|
|
NM_024675.4(PALB2):c.1267G>A (p.Val423Ile)
|
rs1966980569
|
|
|
NM_024675.4(PALB2):c.1268T>C (p.Val423Ala)
|
|
|
|
NM_024675.4(PALB2):c.1268_1270del (p.Val423del)
|
|
|
|
NM_024675.4(PALB2):c.1270G>A (p.Ala424Thr)
|
|
|
|
NM_024675.4(PALB2):c.1271C>T (p.Ala424Val)
|
rs2142420870
|
|
|
NM_024675.4(PALB2):c.1276G>A (p.Glu426Lys)
|
rs2142420693
|
|
|
NM_024675.4(PALB2):c.1279G>C (p.Ala427Pro)
|
|
|
|
NM_024675.4(PALB2):c.1280C>T (p.Ala427Val)
|
rs2142420597
|
|
|
NM_024675.4(PALB2):c.1282G>T (p.Val428Phe)
|
rs1966979857
|
|
|
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val)
|
rs1555461360
|
|
|
NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs)
|
rs1966979701
|
|
|
NM_024675.4(PALB2):c.1287T>G (p.Ile429Met)
|
rs1966979451
|
|
|
NM_024675.4(PALB2):c.1291A>G (p.Ser431Gly)
|
|
|
|
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)
|
rs1555461357
|
|
|
NM_024675.4(PALB2):c.1293T>G (p.Ser431Arg)
|
rs1555461355
|
|
|
NM_024675.4(PALB2):c.1294C>T (p.His432Tyr)
|
rs879254250
|
|
|
NM_024675.4(PALB2):c.1295A>G (p.His432Arg)
|
rs1597096474
|
|
|
NM_024675.4(PALB2):c.1296T>A (p.His432Gln)
|
rs1567221194
|
|
|
NM_024675.4(PALB2):c.1298T>G (p.Leu433Trp)
|
rs1597096465
|
|
|
NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe)
|
rs1966978476
|
|
|
NM_024675.4(PALB2):c.129G>T (p.Lys43Asn)
|
rs551111938
|
|
|
NM_024675.4(PALB2):c.1300G>C (p.Asp434His)
|
rs2142420011
|
|
|
NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala)
|
rs757972600
|
|
|
NM_024675.4(PALB2):c.1302T>G (p.Asp434Glu)
|
|
|
|
NM_024675.4(PALB2):c.1303G>A (p.Val435Ile)
|
rs1064794517
|
|
|
NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg)
|
rs1966977995
|
|
|
NM_024675.4(PALB2):c.1308G>C (p.Lys436Asn)
|
rs1258005167
|
|
|
NM_024675.4(PALB2):c.1309A>G (p.Lys437Glu)
|
rs1597096438
|
|
|
NM_024675.4(PALB2):c.130A>G (p.Ile44Val)
|
|
|
|
NM_024675.4(PALB2):c.1310A>G (p.Lys437Arg)
|
|
|
|
NM_024675.4(PALB2):c.1313A>G (p.Lys438Arg)
|
|
|
|
NM_024675.4(PALB2):c.1313A>T (p.Lys438Ile)
|
|
|
|
NM_024675.4(PALB2):c.1314A>C (p.Lys438Asn)
|
|
|
|
NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg)
|
rs764750338
|
|
|
NM_024675.4(PALB2):c.1315G>C (p.Gly439Arg)
|
rs764750338
|
|
|
NM_024675.4(PALB2):c.1315G>T (p.Gly439Trp)
|
|
|
|
NM_024675.4(PALB2):c.1316G>A (p.Gly439Glu)
|
rs537258442
|
|
|
NM_024675.4(PALB2):c.1316G>C (p.Gly439Ala)
|
rs537258442
|
|
|
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)
|
rs776294034
|
|
|
NM_024675.4(PALB2):c.1323A>T (p.Lys441Asn)
|
|
|
|
NM_024675.4(PALB2):c.1328A>G (p.Lys443Arg)
|
rs587781429
|
|
|
NM_024675.4(PALB2):c.132T>G (p.Ile44Met)
|
rs756856792
|
|
|
NM_024675.4(PALB2):c.1331A>G (p.Asn444Ser)
|
rs764599493
|
|
|
NM_024675.4(PALB2):c.1334A>C (p.Lys445Thr)
|
rs1555461337
|
|
|
NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly)
|
rs146434474
|
|
|
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)
|
rs1555461334
|
|
|
NM_024675.4(PALB2):c.1342A>G (p.Ser448Gly)
|
rs1966975915
|
|
|
NM_024675.4(PALB2):c.1344T>G (p.Ser448Arg)
|
rs1452869606
|
|
|
NM_024675.4(PALB2):c.1346A>C (p.Lys449Thr)
|
rs876659152
|
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
|
NM_024675.4(PALB2):c.1350_1355del (p.450NL[1])
|
rs755002948
|
|
|
NM_024675.4(PALB2):c.1351T>A (p.Leu451Ile)
|
rs772691867
|
|
|
NM_024675.4(PALB2):c.1356C>A (p.Asn452Lys)
|
|
|
|
NM_024675.4(PALB2):c.1357C>T (p.Leu453Phe)
|
rs746328068
|
|
|
NM_024675.4(PALB2):c.1358T>C (p.Leu453Pro)
|
|
|
|
NM_024675.4(PALB2):c.135G>C (p.Lys45Asn)
|
rs753270291
|
|
|
NM_024675.4(PALB2):c.1360T>C (p.Ser454Pro)
|
rs1597096304
|
|
|
NM_024675.4(PALB2):c.1368G>T (p.Glu456Asp)
|
rs1555461319
|
|
|
NM_024675.4(PALB2):c.136C>T (p.His46Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1370A>G (p.Glu457Gly)
|
rs774298150
|
|
|
NM_024675.4(PALB2):c.1372A>G (p.Thr458Ala)
|
|
|
|
NM_024675.4(PALB2):c.1375G>A (p.Asp459Asn)
|
rs2142417951
|
|
|
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)
|
rs1031787378
|
|
|
NM_024675.4(PALB2):c.1376A>T (p.Asp459Val)
|
rs1031787378
|
|
|
NM_024675.4(PALB2):c.1377C>G (p.Asp459Glu)
|
rs771002573
|
|
|
NM_024675.4(PALB2):c.1381A>C (p.Ser461Arg)
|
|
|
|
NM_024675.4(PALB2):c.1382G>A (p.Ser461Asn)
|
rs1966972801
|
|
|
NM_024675.4(PALB2):c.1382G>T (p.Ser461Ile)
|
rs1966972801
|
|
|
NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg)
|
rs768482110
|
|
|
NM_024675.4(PALB2):c.1385A>G (p.Glu462Gly)
|
rs1966972534
|
|
|
NM_024675.4(PALB2):c.1385A>T (p.Glu462Val)
|
|
|
|
NM_024675.4(PALB2):c.1388T>G (p.Ile463Ser)
|
rs1597096230
|
|
|
NM_024675.4(PALB2):c.1390A>T (p.Arg464Trp)
|
rs1555461305
|
|
|
NM_024675.4(PALB2):c.1391G>A (p.Arg464Lys)
|
rs1966972231
|
|
|
NM_024675.4(PALB2):c.1393A>G (p.Met465Val)
|
rs1170015107
|
|
|
NM_024675.4(PALB2):c.1396T>G (p.Ser466Ala)
|
|
|
|
NM_024675.4(PALB2):c.1399G>A (p.Gly467Ser)
|
rs45602239
|
|
|
NM_024675.4(PALB2):c.1399G>C (p.Gly467Arg)
|
rs45602239
|
|
|
NM_024675.4(PALB2):c.13C>G (p.Pro5Ala)
|
|
|
|
NM_024675.4(PALB2):c.1400G>C (p.Gly467Ala)
|
rs730881906
|
|
|
NM_024675.4(PALB2):c.1401C>T (p.Gly467=)
|
rs1555461301
|
|
|
NM_024675.4(PALB2):c.1402A>G (p.Thr468Ala)
|
rs1966971242
|
|
|
NM_024675.4(PALB2):c.1406G>A (p.Cys469Tyr)
|
rs1966970988
|
|
|
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)
|
rs730881883
|
|
|
NM_024675.4(PALB2):c.140C>A (p.Ser47Tyr)
|
rs876659427
|
|
|
NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg)
|
rs1966970790
|
|
|
NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg)
|
rs1966970790
|
|
|
NM_024675.4(PALB2):c.1414C>A (p.Gln472Lys)
|
rs2142416694
|
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
|
NM_024675.4(PALB2):c.1417C>G (p.Pro473Ala)
|
|
|
|
NM_024675.4(PALB2):c.1417C>T (p.Pro473Ser)
|
|
|
|
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)
|
rs786201806
|
|
|
NM_024675.4(PALB2):c.1422T>G (p.Ser474Arg)
|
rs878855100
|
|
|
NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1429A>G (p.Thr477Ala)
|
rs1555461285
|
|
|
NM_024675.4(PALB2):c.142A>G (p.Ile48Val)
|
rs786203134
|
|
|
NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)
|
rs1567221020
|
|
|
NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)
|
rs1597096071
|
|
|
NM_024675.4(PALB2):c.1433C>G (p.Ser478Cys)
|
rs786203879
|
|
|
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe)
|
rs786203879
|
|
|
NM_024675.4(PALB2):c.1435C>G (p.Gln479Glu)
|
rs1060502761
|
|
|
NM_024675.4(PALB2):c.1436A>T (p.Gln479Leu)
|
|
|
|
NM_024675.4(PALB2):c.1438A>G (p.Lys480Glu)
|
rs1057520653
|
|
|
NM_024675.4(PALB2):c.1444C>T (p.Leu482Phe)
|
rs753470554
|
|
|
NM_024675.4(PALB2):c.1452A>T (p.Leu484Phe)
|
rs1262680014
|
|
|
NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)
|
rs786202699
|
|
|
NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu)
|
rs876658949
|
|
|
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)
|
rs864622291
|
|
|
NM_024675.4(PALB2):c.1458A>C (p.Lys486Asn)
|
|
|
|
NM_024675.4(PALB2):c.145A>G (p.Lys49Glu)
|
rs2142457092
|
|
|
NM_024675.4(PALB2):c.1460T>A (p.Val487Asp)
|
rs2142415304
|
|
|
NM_024675.4(PALB2):c.1462A>C (p.Ser488Arg)
|
rs753124503
|
|
|
NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr)
|
rs767926590
|
|
|
NM_024675.4(PALB2):c.1464C>G (p.Ser488Arg)
|
|
|
|
NM_024675.4(PALB2):c.1465T>C (p.Ser489Pro)
|
rs538225556
|
|
|
NM_024675.4(PALB2):c.1469C>T (p.Pro490Leu)
|
rs1060502797
|
|
|
NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1471G>T (p.Ala491Ser)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1472C>T (p.Ala491Val)
|
rs1473779466
|
|
|
NM_024675.4(PALB2):c.1475G>T (p.Gly492Val)
|
rs515726070
|
|
|
NM_024675.4(PALB2):c.1477C>G (p.Pro493Ala)
|
rs1966964053
|
|
|
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
|
rs770965402
|
|
|
NM_024675.4(PALB2):c.147_149del (p.Lys50del)
|
rs1967103032
|
|
|
NM_024675.4(PALB2):c.1480A>C (p.Thr494Pro)
|
rs1555461258
|
|
|
NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala)
|
rs1555461258
|
|
|
NM_024675.4(PALB2):c.1481C>T (p.Thr494Ile)
|
rs587782368
|
|
|
NM_024675.4(PALB2):c.1485A>T (p.Glu495Asp)
|
rs1567220888
|
|
|
NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly)
|
rs786204228
|
|
|
NM_024675.4(PALB2):c.1487A>T (p.Asp496Val)
|
rs786204228
|
|
|
NM_024675.4(PALB2):c.1488T>A (p.Asp496Glu)
|
|
|
|
NM_024675.4(PALB2):c.148A>G (p.Lys50Glu)
|
rs1967103124
|
|
|
NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser)
|
|
|
|
NM_024675.4(PALB2):c.1491T>A (p.Asn497Lys)
|
rs374707677
|
|
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
rs75023630
|
|
|
NM_024675.4(PALB2):c.1493A>T (p.Asp498Val)
|
rs1966962467
|
|
|
NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe)
|
rs748315431
|
|
|
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)
|
rs869025294
|
|
|
NM_024675.4(PALB2):c.1499C>G (p.Ser500Cys)
|
rs1966961724
|
|
|
NM_024675.4(PALB2):c.1499C>T (p.Ser500Phe)
|
rs1966961724
|
|
|
NM_024675.4(PALB2):c.14C>T (p.Pro5Leu)
|
rs1967234897
|
|
|
NM_024675.4(PALB2):c.1501A>G (p.Arg501Gly)
|
rs1966961551
|
|
|
NM_024675.4(PALB2):c.1502G>A (p.Arg501Lys)
|
rs1966961470
|
|
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
rs371142570
|
|
|
NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro)
|
rs1555461243
|
|
|
NM_024675.4(PALB2):c.150A>T (p.Lys50Asn)
|
rs1967102886
|
|
|
NM_024675.4(PALB2):c.1510G>A (p.Val504Ile)
|
rs771846754
|
|
|
NM_024675.4(PALB2):c.1510G>C (p.Val504Leu)
|
|
|
|
NM_024675.4(PALB2):c.1510G>T (p.Val504Phe)
|
|
|
|
NM_024675.4(PALB2):c.151A>T (p.Thr51Ser)
|
rs2142456898
|
|
|
NM_024675.4(PALB2):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser)
|
rs1597095773
|
|
|
NM_024675.4(PALB2):c.1523C>A (p.Pro508His)
|
rs2142413565
|
|
|
NM_024675.4(PALB2):c.1523C>G (p.Pro508Arg)
|
|
|
|
NM_024675.4(PALB2):c.1523C>T (p.Pro508Leu)
|
rs2142413565
|
|
|
NM_024675.4(PALB2):c.1525G>C (p.Gly509Arg)
|
rs1567220815
|
|
|
NM_024675.4(PALB2):c.1526G>T (p.Gly509Val)
|
|
|
|
NM_024675.4(PALB2):c.1528A>G (p.Arg510Gly)
|
rs1597095753
|
|
|
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)
|
rs1555461232
|
|
|
NM_024675.4(PALB2):c.1532G>A (p.Arg511Lys)
|
rs1555461231
|
|
|
NM_024675.4(PALB2):c.1533A>T (p.Arg511Ser)
|
rs941787019
|
|
|
NM_024675.4(PALB2):c.1534T>C (p.Tyr512His)
|
rs1966959567
|
|
|
NM_024675.4(PALB2):c.1535A>G (p.Tyr512Cys)
|
rs1966959384
|
|
|
NM_024675.4(PALB2):c.1537A>C (p.Thr513Pro)
|
rs1060502741
|
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
|
NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys)
|
rs778890869
|
|
|
NM_024675.4(PALB2):c.1547G>T (p.Arg516Ile)
|
|
|
|
NM_024675.4(PALB2):c.1549A>C (p.Lys517Gln)
|
|
|
|
NM_024675.4(PALB2):c.1555G>C (p.Ala519Pro)
|
rs1597095651
|
|
|
NM_024675.4(PALB2):c.1556C>G (p.Ala519Gly)
|
rs1340452845
|
|
|
NM_024675.4(PALB2):c.1556C>T (p.Ala519Val)
|
rs1340452845
|
|
|
NM_024675.4(PALB2):c.1559G>A (p.Cys520Tyr)
|
rs1966957419
|
|
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
rs373970237
|
|
|
NM_024675.4(PALB2):c.1561A>G (p.Thr521Ala)
|
|
|
|
NM_024675.4(PALB2):c.1561A>T (p.Thr521Ser)
|
|
|
|
NM_024675.4(PALB2):c.1562C>A (p.Thr521Asn)
|
rs1555461218
|
|
|
NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile)
|
rs1555461218
|
|
|
NM_024675.4(PALB2):c.1565C>T (p.Pro522Leu)
|
|
|
|
NM_024675.4(PALB2):c.1567G>A (p.Ala523Thr)
|
|
|
|
NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly)
|
rs1966956742
|
|
|
NM_024675.4(PALB2):c.1570_1571delinsAG (p.Ser524Arg)
|
rs1966956569
|
|
|
NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr)
|
rs876659074
|
|
|
NM_024675.4(PALB2):c.1574A>G (p.Asp525Gly)
|
|
|
|
NM_024675.4(PALB2):c.1574A>T (p.Asp525Val)
|
rs1966956081
|
|
|
NM_024675.4(PALB2):c.1576C>G (p.His526Asp)
|
rs529894848
|
|
|
NM_024675.4(PALB2):c.1579T>C (p.Cys527Arg)
|
rs1597095571
|
|
|
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys)
|
rs1184603042
|
|
|
NM_024675.4(PALB2):c.157GAA[1] (p.Glu54del)
|
rs876660197
|
|
|
NM_024675.4(PALB2):c.1580G>T (p.Cys527Phe)
|
|
|
|
NM_024675.4(PALB2):c.1582G>C (p.Glu528Gln)
|
|
|
|
NM_024675.4(PALB2):c.1583A>G (p.Glu528Gly)
|
|
|
|
NM_024675.4(PALB2):c.1585C>A (p.Pro529Thr)
|
|
|
|
NM_024675.4(PALB2):c.1585C>G (p.Pro529Ala)
|
rs560839514
|
|
|
NM_024675.4(PALB2):c.1585C>T (p.Pro529Ser)
|
rs560839514
|
|
|
NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu)
|
rs1597095559
|
|
|
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)
|
rs876659671
|
|
|
NM_024675.4(PALB2):c.1593_1594delinsAA (p.Pro532Thr)
|
rs1060502753
|
|
|
NM_024675.4(PALB2):c.1595C>T (p.Pro532Leu)
|
rs1555461202
|
|
|
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
|
rs1064793824
|
|
|
NM_024675.4(PALB2):c.1601C>G (p.Ser534Cys)
|
rs1555461200
|
|
|
NM_024675.4(PALB2):c.1604G>C (p.Ser535Thr)
|
rs1966953852
|
|
|
NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro)
|
rs1555461198
|
|
|
NM_024675.4(PALB2):c.160G>C (p.Glu54Gln)
|
rs1567224004
|
|
|
NM_024675.4(PALB2):c.1614T>G (p.Ile538Met)
|
rs1060504713
|
|
|
NM_024675.4(PALB2):c.1615G>A (p.Val539Ile)
|
|
|
|
NM_024675.4(PALB2):c.1619A>G (p.Asn540Ser)
|
rs1064793609
|
|
|
NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys)
|
rs1597095450
|
|
|
NM_024675.4(PALB2):c.1622G>C (p.Arg541Thr)
|
rs1597095450
|
|
|
NM_024675.4(PALB2):c.1623G>C (p.Arg541Ser)
|
rs745665968
|
|
|
NM_024675.4(PALB2):c.1623G>T (p.Arg541Ser)
|
rs745665968
|
|
|
NM_024675.4(PALB2):c.1628A>G (p.Lys543Arg)
|
rs370468259
|
|
|
NM_024675.4(PALB2):c.1629G>C (p.Lys543Asn)
|
rs1274647317
|
|
|
NM_024675.4(PALB2):c.1631A>G (p.Glu544Gly)
|
rs1567220628
|
|
|
NM_024675.4(PALB2):c.163C>G (p.Gln55Glu)
|
rs1064793772
|
|
|
NM_024675.4(PALB2):c.1640C>A (p.Thr547Asn)
|
rs1597095364
|
|
|
NM_024675.4(PALB2):c.1642T>C (p.Ser548Pro)
|
rs1597095353
|
|
|
NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu)
|
rs1241049372
|
|
|
NM_024675.4(PALB2):c.1645C>T (p.His549Tyr)
|
rs1966950582
|
|
|
NM_024675.4(PALB2):c.1646A>G (p.His549Arg)
|
rs1597095334
|
|
|
NM_024675.4(PALB2):c.1647C>G (p.His549Gln)
|
rs747842085
|
|
|
NM_024675.4(PALB2):c.1648A>G (p.Lys550Glu)
|
rs1555461178
|
|
|
NM_024675.4(PALB2):c.1649A>G (p.Lys550Arg)
|
|
|
|
NM_024675.4(PALB2):c.164A>T (p.Gln55Leu)
|
rs1555462056
|
|
|
NM_024675.4(PALB2):c.1651T>C (p.Tyr551His)
|
|
|
|
NM_024675.4(PALB2):c.1652A>G (p.Tyr551Cys)
|
rs1966949762
|
|
|
NM_024675.4(PALB2):c.1659C>A (p.His553Gln)
|
rs370318597
|
|
|
NM_024675.4(PALB2):c.1661A>G (p.Glu554Gly)
|
rs1555461164
|
|
|
NM_024675.4(PALB2):c.1664A>G (p.Lys555Arg)
|
rs1555461163
|
|
|
NM_024675.4(PALB2):c.1665A>T (p.Lys555Asn)
|
rs45518838
|
|
|
NM_024675.4(PALB2):c.1667T>C (p.Leu556Ser)
|
rs1966947813
|
|
|
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu)
|
rs1326785676
|
|
|
NM_024675.4(PALB2):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr)
|
rs766583287
|
|
|
NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu)
|
rs1555461154
|
|
|
NM_024675.4(PALB2):c.1676A>T (p.Gln559Leu)
|
|
|
|
NM_024675.4(PALB2):c.1677A>G (p.Gln559=)
|
|
|
|
NM_024675.4(PALB2):c.1678G>A (p.Val560Met)
|
rs1966946608
|
|
|
NM_024675.4(PALB2):c.167A>G (p.Asp56Gly)
|
rs1567223986
|
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
|
NM_024675.4(PALB2):c.1684+4A>G
|
|
|
|
NM_024675.4(PALB2):c.1684+6_1684+9del
|
rs1966945941
|
|
|
NM_024675.4(PALB2):c.1684+6del
|
rs1555461147
|
|
|
NM_024675.4(PALB2):c.1684G>A (p.Gly562Arg)
|
rs786202239
|
|
|
NM_024675.4(PALB2):c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
|
|
|
|
NM_024675.4(PALB2):c.1685-1G>A
|
rs1057520645
|
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
|
NM_024675.4(PALB2):c.1685-2A>C
|
rs754660432
|
|
|
NM_024675.4(PALB2):c.1685-3T>G
|
rs1254059410
|
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
|
NM_024675.4(PALB2):c.1685G>A (p.Gly562Glu)
|
rs2142391406
|
|
|
NM_024675.4(PALB2):c.1687A>G (p.Lys563Glu)
|
|
|
|
NM_024675.4(PALB2):c.1688A>C (p.Lys563Thr)
|
rs1396029242
|
|
|
NM_024675.4(PALB2):c.168T>G (p.Asp56Glu)
|
rs1203135643
|
|
|
NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn)
|
rs876659914
|
|
|
NM_024675.4(PALB2):c.1694GTC[1] (p.Arg566del)
|
rs1597091471
|
|
|
NM_024675.4(PALB2):c.1695T>A (p.Ser565Arg)
|
|
|
|
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro)
|
rs144617793
|
|
|
NM_024675.4(PALB2):c.1697G>T (p.Arg566Leu)
|
rs144617793
|
|
|
NM_024675.4(PALB2):c.1699C>A (p.His567Asn)
|
rs370422990
|
|
|
NM_024675.4(PALB2):c.16G>A (p.Gly6Arg)
|
rs1967234587
|
|
|
NM_024675.4(PALB2):c.16G>T (p.Gly6Trp)
|
rs1967234587
|
|
|
NM_024675.4(PALB2):c.1700A>G (p.His567Arg)
|
rs765722926
|
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
|
NM_024675.4(PALB2):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_024675.4(PALB2):c.1704A>C (p.Gln568His)
|
rs876658676
|
|
|
NM_024675.4(PALB2):c.1704A>T (p.Gln568His)
|
|
|
|
NM_024675.4(PALB2):c.1706A>C (p.Lys569Thr)
|
rs1966867586
|
|
|
NM_024675.4(PALB2):c.1707A>C (p.Lys569Asn)
|
|
|
|
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys)
|
rs786203747
|
|
|
NM_024675.4(PALB2):c.1708G>C (p.Glu570Gln)
|
rs786203747
|
|
|
NM_024675.4(PALB2):c.170G>A (p.Cys57Tyr)
|
rs876660029
|
|
|
NM_024675.4(PALB2):c.1712A>T (p.Asp571Val)
|
rs1597091418
|
|
|
NM_024675.4(PALB2):c.1725G>T (p.Trp575Cys)
|
|
|
|
NM_024675.4(PALB2):c.1726A>G (p.Ser576Gly)
|
|
|
|
NM_024675.4(PALB2):c.1726A>T (p.Ser576Cys)
|
rs1555460681
|
|
|
NM_024675.4(PALB2):c.1727G>A (p.Ser576Asn)
|
rs879253907
|
|
|
NM_024675.4(PALB2):c.1729A>G (p.Asn577Asp)
|
rs1567218928
|
|
|
NM_024675.4(PALB2):c.172T>G (p.Leu58Val)
|
rs1597101395
|
|
|
NM_024675.4(PALB2):c.1730A>G (p.Asn577Ser)
|
rs1597091371
|
|
|
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)
|
rs764023822
|
|
|
NM_024675.4(PALB2):c.1732A>T (p.Ser578Cys)
|
rs764023822
|
|
|
NM_024675.4(PALB2):c.1735G>A (p.Ala579Thr)
|
rs1567218910
|
|
|
NM_024675.4(PALB2):c.1735G>C (p.Ala579Pro)
|
rs1567218910
|
|
|
NM_024675.4(PALB2):c.1736C>T (p.Ala579Val)
|
rs1567218908
|
|
|
NM_024675.4(PALB2):c.173T>C (p.Leu58Ser)
|
rs1567223972
|
|
|
NM_024675.4(PALB2):c.1745C>G (p.Ser582Cys)
|
rs865777690
|
|
|
NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe)
|
rs865777690
|
|
|
NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)
|
rs587782151
|
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
|
NM_024675.4(PALB2):c.1749G>C (p.Leu583Phe)
|
rs1966866916
|
|
|
NM_024675.4(PALB2):c.174G>C (p.Leu58Phe)
|
|
|
|
NM_024675.4(PALB2):c.174G>T (p.Leu58Phe)
|
|
|
|
NM_024675.4(PALB2):c.1750G>A (p.Asp584Asn)
|
rs1966866891
|
|
|
NM_024675.4(PALB2):c.1751A>G (p.Asp584Gly)
|
rs2142390124
|
|
|
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup)
|
rs1555460665
|
|
|
NM_024675.4(PALB2):c.1752T>G (p.Asp584Glu)
|
rs1060504717
|
|
|
NM_024675.4(PALB2):c.1754A>C (p.Asp585Ala)
|
rs1597091293
|
|
|
NM_024675.4(PALB2):c.1754A>G (p.Asp585Gly)
|
rs1597091293
|
|
|
NM_024675.4(PALB2):c.1756G>T (p.Asp586Tyr)
|
rs587781954
|
|
|
NM_024675.4(PALB2):c.1762T>C (p.Phe588Leu)
|
rs762820168
|
|
|
NM_024675.4(PALB2):c.1769C>G (p.Ala590Gly)
|
rs1966866430
|
|
|
NM_024675.4(PALB2):c.1769C>T (p.Ala590Val)
|
rs1966866430
|
|
|
NM_024675.4(PALB2):c.1772C>T (p.Pro591Leu)
|
|
|
|
NM_024675.4(PALB2):c.1775T>G (p.Phe592Cys)
|
rs2142389552
|
|
|
NM_024675.4(PALB2):c.1778A>G (p.His593Arg)
|
rs1555460654
|
|
|
NM_024675.4(PALB2):c.1779T>C (p.His593=)
|
rs1475548158
|
|
|
NM_024675.4(PALB2):c.1779T>G (p.His593Gln)
|
|
|
|
NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)
|
rs1597091217
|
|
|
NM_024675.4(PALB2):c.1781G>C (p.Arg594Thr)
|
rs1597091217
|
|
|
NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn)
|
rs1555460653
|
|
|
NM_024675.4(PALB2):c.1783G>T (p.Asp595Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly)
|
rs1555460652
|
|
|
NM_024675.4(PALB2):c.1784A>T (p.Asp595Val)
|
|
|
|
NM_024675.4(PALB2):c.1784_1785delinsCG (p.Asp595Ala)
|
rs1567218820
|
|
|
NM_024675.4(PALB2):c.1785T>A (p.Asp595Glu)
|
rs1555460651
|
|
|
NM_024675.4(PALB2):c.1790T>C (p.Met597Thr)
|
rs786203214
|
|
|
NM_024675.4(PALB2):c.1790T>G (p.Met597Arg)
|
rs786203214
|
|
|
NM_024675.4(PALB2):c.1793T>C (p.Leu598Pro)
|
|
|
|
NM_024675.4(PALB2):c.1798T>G (p.Leu600Val)
|
rs2142389006
|
|
|
NM_024675.4(PALB2):c.1799T>C (p.Leu600Ser)
|
|
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
|
NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu)
|
rs876660475
|
|
|
NM_024675.4(PALB2):c.1805A>C (p.Gln602Pro)
|
rs864622768
|
|
|
NM_024675.4(PALB2):c.1805A>T (p.Gln602Leu)
|
rs864622768
|
|
|
NM_024675.4(PALB2):c.1806ACT[3] (p.Leu604_Ser605insLeu)
|
|
|
|
NM_024675.4(PALB2):c.1807C>A (p.Leu603Ile)
|
|
|
|
NM_024675.4(PALB2):c.1811T>C (p.Leu604Pro)
|
rs1555460637
|
|
|
NM_024675.4(PALB2):c.1813T>C (p.Ser605Pro)
|
rs2142388635
|
|
|
NM_024675.4(PALB2):c.1813T>G (p.Ser605Ala)
|
rs2142388635
|
|
|
NM_024675.4(PALB2):c.1814C>G (p.Ser605Cys)
|
rs876658992
|
|
|
NM_024675.4(PALB2):c.1819C>A (p.Leu607Ile)
|
rs1567218740
|
|
|
NM_024675.4(PALB2):c.1822A>G (p.Ser608Gly)
|
rs1966865388
|
|
|
NM_024675.4(PALB2):c.1823G>A (p.Ser608Asn)
|
|
|
|
NM_024675.4(PALB2):c.1828A>G (p.Thr610Ala)
|
rs1555460632
|
|
|
NM_024675.4(PALB2):c.182A>G (p.Gln61Arg)
|
|
|
|
NM_024675.4(PALB2):c.182A>T (p.Gln61Leu)
|
|
|
|
NM_024675.4(PALB2):c.1832A>G (p.Asp611Gly)
|
|
|
|
NM_024675.4(PALB2):c.1833C>G (p.Asp611Glu)
|
rs779184831
|
|
|
NM_024675.4(PALB2):c.1837C>G (p.Gln613Glu)
|
rs1966865214
|
|
|
NM_024675.4(PALB2):c.1838A>G (p.Gln613Arg)
|
rs1966865170
|
|
|
NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser)
|
rs1555460628
|
|
|
NM_024675.4(PALB2):c.1843C>G (p.Pro615Ala)
|
rs1019525144
|
|
|
NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser)
|
rs1019525144
|
|
|
NM_024675.4(PALB2):c.1844C>T (p.Pro615Leu)
|
rs2142387910
|
|
|
NM_024675.4(PALB2):c.1846G>A (p.Asp616Asn)
|
rs786201907
|
|
|
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly)
|
rs876660063
|
|
|
NM_024675.4(PALB2):c.1847A>T (p.Asp616Val)
|
rs876660063
|
|
|
NM_024675.4(PALB2):c.1849G>A (p.Glu617Lys)
|
rs1966864945
|
|
|
NM_024675.4(PALB2):c.184G>A (p.Asp62Asn)
|
rs1967100410
|
|
|
NM_024675.4(PALB2):c.184G>T (p.Asp62Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1850_1858del (p.Glu617_Phe619del)
|
|
|
|
NM_024675.4(PALB2):c.1852G>A (p.Asp618Asn)
|
rs754252373
|
|
|
NM_024675.4(PALB2):c.1861C>T (p.Pro621Ser)
|
rs756116550
|
|
|
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)
|
rs1567218668
|
|
|
NM_024675.4(PALB2):c.1867A>G (p.Lys623Glu)
|
rs1966864669
|
|
|
NM_024675.4(PALB2):c.1869G>C (p.Lys623Asn)
|
rs1555460612
|
|
|
NM_024675.4(PALB2):c.1869_1874del (p.Leu624_Glu625del)
|
rs1567218638
|
|
|
NM_024675.4(PALB2):c.1870C>A (p.Leu624Ile)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1870C>G (p.Leu624Val)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1870C>T (p.Leu624Phe)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1871T>C (p.Leu624Pro)
|
rs1060502791
|
|
|
NM_024675.4(PALB2):c.1874A>G (p.Glu625Gly)
|
rs1555460607
|
|
|
NM_024675.4(PALB2):c.1876A>C (p.Lys626Gln)
|
rs2142387099
|
|
|
NM_024675.4(PALB2):c.1879G>A (p.Val627Met)
|
rs1567218614
|
|
|
NM_024675.4(PALB2):c.1879G>C (p.Val627Leu)
|
|
|
|
NM_024675.4(PALB2):c.187C>G (p.Leu63Val)
|
rs730881899
|
|
|
NM_024675.4(PALB2):c.1883A>T (p.Lys628Met)
|
rs954390684
|
|
|
NM_024675.4(PALB2):c.1886C>A (p.Ser629Tyr)
|
rs1169756751
|
|
|
NM_024675.4(PALB2):c.1886C>G (p.Ser629Cys)
|
|
|
|
NM_024675.4(PALB2):c.1889G>C (p.Cys630Ser)
|
rs1597090878
|
|
|
NM_024675.4(PALB2):c.188T>C (p.Leu63Pro)
|
rs1967100204
|
|
|
NM_024675.4(PALB2):c.1895A>C (p.Glu632Ala)
|
rs1567218562
|
|
|
NM_024675.4(PALB2):c.1897A>G (p.Lys633Glu)
|
rs1555460599
|
|
|
NM_024675.4(PALB2):c.1898A>G (p.Lys633Arg)
|
rs1567218554
|
|
|
NM_024675.4(PALB2):c.1898A>T (p.Lys633Ile)
|
rs1567218554
|
|
|
NM_024675.4(PALB2):c.1900C>T (p.Pro634Ser)
|
rs2142386489
|
|
|
NM_024675.4(PALB2):c.1901C>A (p.Pro634Gln)
|
|
|
|
NM_024675.4(PALB2):c.1901C>T (p.Pro634Leu)
|
|
|
|
NM_024675.4(PALB2):c.1903G>C (p.Val635Leu)
|
|
|
|
NM_024675.4(PALB2):c.1903G>T (p.Val635Leu)
|
rs776389696
|
|
|
NM_024675.4(PALB2):c.1906G>A (p.Glu636Lys)
|
|
|
|
NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly)
|
rs1966863975
|
|
|
NM_024675.4(PALB2):c.1908G>C (p.Glu636Asp)
|
rs1392612467
|
|
|
NM_024675.4(PALB2):c.1909C>A (p.Pro637Thr)
|
|
|
|
NM_024675.4(PALB2):c.1910C>G (p.Pro637Arg)
|
rs878855104
|
|
|
NM_024675.4(PALB2):c.1910C>T (p.Pro637Leu)
|
rs878855104
|
|
|
NM_024675.4(PALB2):c.1915G>C (p.Glu639Gln)
|
rs1555460592
|
|
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
rs1597090787
|
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
|
NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.191C>T (p.Ser64Leu)
|
rs1567223942
|
|
|
NM_024675.4(PALB2):c.1925T>C (p.Met642Thr)
|
rs876660387
|
|
|
NM_024675.4(PALB2):c.1926G>A (p.Met642Ile)
|
rs1597090741
|
|
|
NM_024675.4(PALB2):c.1928T>C (p.Phe643Ser)
|
rs1567218485
|
|
|
NM_024675.4(PALB2):c.1929T>A (p.Phe643Leu)
|
|
|
|
NM_024675.4(PALB2):c.1931G>A (p.Gly644Glu)
|
rs875989794
|
|
|
NM_024675.4(PALB2):c.1937G>A (p.Arg646Lys)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1937G>C (p.Arg646Thr)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1937G>T (p.Arg646Ile)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1938A>C (p.Arg646Ser)
|
|
|
|
NM_024675.4(PALB2):c.1939C>G (p.His647Asp)
|
rs1555460583
|
|
|
NM_024675.4(PALB2):c.1939C>T (p.His647Tyr)
|
rs1555460583
|
|
|
NM_024675.4(PALB2):c.193C>G (p.Pro65Ala)
|
rs1229828972
|
|
|
NM_024675.4(PALB2):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_024675.4(PALB2):c.1940A>G (p.His647Arg)
|
rs1055533509
|
|
|
NM_024675.4(PALB2):c.1940A>T (p.His647Leu)
|
rs1055533509
|
|
|
NM_024675.4(PALB2):c.1942C>T (p.Leu648Phe)
|
rs1966863129
|
|
|
NM_024675.4(PALB2):c.1942_1948delinsA (p.Leu648_Glu650delinsLys)
|
rs1555460577
|
|
|
NM_024675.4(PALB2):c.1948G>A (p.Glu650Lys)
|
rs1597090662
|
|
|
NM_024675.4(PALB2):c.1948G>C (p.Glu650Gln)
|
rs1597090662
|
|
|
NM_024675.4(PALB2):c.194C>G (p.Pro65Arg)
|
rs62625272
|
|
|
NM_024675.4(PALB2):c.1952G>A (p.Gly651Glu)
|
rs876660200
|
|
|
NM_024675.4(PALB2):c.1954_1956del (p.Ser652del)
|
|
|
|
NM_024675.4(PALB2):c.1958G>C (p.Cys653Ser)
|
rs771246748
|
|
|
NM_024675.4(PALB2):c.1958G>T (p.Cys653Phe)
|
rs771246748
|
|
|
NM_024675.4(PALB2):c.1961T>C (p.Ile654Thr)
|
|
|
|
NM_024675.4(PALB2):c.1966C>G (p.Pro656Ala)
|
|
|
|
NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu)
|
rs370360082
|
|
|
NM_024675.4(PALB2):c.1969G>C (p.Glu657Gln)
|
rs2142384677
|
|
|
NM_024675.4(PALB2):c.1970A>G (p.Glu657Gly)
|
rs2142384653
|
|
|
NM_024675.4(PALB2):c.1972G>A (p.Glu658Lys)
|
rs1555460542
|
|
|
NM_024675.4(PALB2):c.1974A>C (p.Glu658Asp)
|
rs1057522241
|
|
|
NM_024675.4(PALB2):c.1978A>G (p.Ser660Gly)
|
rs2142384431
|
|
|
NM_024675.4(PALB2):c.197A>G (p.Gln66Arg)
|
rs1967099408
|
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
|
NM_024675.4(PALB2):c.1988G>A (p.Arg663His)
|
rs1462734899
|
|
|
NM_024675.4(PALB2):c.1988G>T (p.Arg663Leu)
|
rs1462734899
|
|
|
NM_024675.4(PALB2):c.1991T>C (p.Met664Thr)
|
rs945657254
|
|
|
NM_024675.4(PALB2):c.1991T>G (p.Met664Arg)
|
rs945657254
|
|
|
NM_024675.4(PALB2):c.1992G>A (p.Met664Ile)
|
|
|
|
NM_024675.4(PALB2):c.1993G>A (p.Asp665Asn)
|
|
|
|
NM_024675.4(PALB2):c.1994A>G (p.Asp665Gly)
|
|
|
|
NM_024675.4(PALB2):c.1994A>T (p.Asp665Val)
|
rs1555460531
|
|
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
rs1567218311
|
|
|
NM_024675.4(PALB2):c.1999_2001dup (p.Glu667dup)
|
rs1555460530
|
|
|
NM_024675.4(PALB2):c.2001A>T (p.Glu667Asp)
|
rs1421924676
|
|
|
NM_024675.4(PALB2):c.2002A>G (p.Met668Val)
|
|
|
|
NM_024675.4(PALB2):c.2004G>T (p.Met668Ile)
|
rs2142383719
|
|
|
NM_024675.4(PALB2):c.2006A>G (p.Glu669Gly)
|
rs1567218281
|
|
|
NM_024675.4(PALB2):c.200T>C (p.Leu67Pro)
|
rs2142455603
|
|
|
NM_024675.4(PALB2):c.2010C>G (p.Asp670Glu)
|
|
|
|
NM_024675.4(PALB2):c.2012T>C (p.Leu671Ser)
|
|
|
|
NM_024675.4(PALB2):c.2013A>C (p.Leu671Phe)
|
rs2142383518
|
|
|
NM_024675.4(PALB2):c.2014G>A (p.Glu672Lys)
|
rs45532440
|
|
|
NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys)
|
rs1236182341
|
|
|
NM_024675.4(PALB2):c.2021A>C (p.Asp674Ala)
|
rs1064793726
|
|
|
NM_024675.4(PALB2):c.2021A>T (p.Asp674Val)
|
rs1064793726
|
|
|
NM_024675.4(PALB2):c.2022C>A (p.Asp674Glu)
|
|
|
|
NM_024675.4(PALB2):c.2038G>A (p.Gly680Arg)
|
rs1223755856
|
|
|
NM_024675.4(PALB2):c.2039G>A (p.Gly680Glu)
|
rs759218890
|
|
|
NM_024675.4(PALB2):c.2041A>C (p.Lys681Gln)
|
|
|
|
NM_024675.4(PALB2):c.2041A>G (p.Lys681Glu)
|
rs2142382651
|
|
|
NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr)
|
rs1555460514
|
|
|
NM_024675.4(PALB2):c.2042A>G (p.Lys681Arg)
|
|
|
|
NM_024675.4(PALB2):c.2050C>T (p.Pro684Ser)
|
|
|
|
NM_024675.4(PALB2):c.2051C>G (p.Pro684Arg)
|
rs2142382405
|
|
|
NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln)
|
rs876660397
|
|
|
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)
|
rs876660397
|
|
|
NM_024675.4(PALB2):c.2054A>G (p.Lys685Arg)
|
rs1597090309
|
|
|
NM_024675.4(PALB2):c.2055A>C (p.Lys685Asn)
|
|
|
|
NM_024675.4(PALB2):c.2058G>T (p.Arg686Ser)
|
rs771376636
|
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
|
NM_024675.4(PALB2):c.2060C>G (p.Pro687Arg)
|
|
|
|
NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala)
|
rs2142382088
|
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
|
NM_024675.4(PALB2):c.2068C>G (p.Gln690Glu)
|
rs1555460505
|
|
|
NM_024675.4(PALB2):c.206A>G (p.His69Arg)
|
rs749443090
|
|
|
NM_024675.4(PALB2):c.2071A>G (p.Ser691Gly)
|
rs1555460504
|
|
|
NM_024675.4(PALB2):c.2072G>A (p.Ser691Asn)
|
rs1555460502
|
|
|
NM_024675.4(PALB2):c.2073C>G (p.Ser691Arg)
|
rs1567218173
|
|
|
NM_024675.4(PALB2):c.2075A>C (p.Gln692Pro)
|
|
|
|
NM_024675.4(PALB2):c.2075A>G (p.Gln692Arg)
|
rs1555460499
|
|
|
NM_024675.4(PALB2):c.2078A>G (p.His693Arg)
|
rs587780208
|
|
|
NM_024675.4(PALB2):c.2078A>T (p.His693Leu)
|
rs587780208
|
|
|
NM_024675.4(PALB2):c.207C>A (p.His69Gln)
|
rs1567223897
|
|
|
NM_024675.4(PALB2):c.2080A>G (p.Thr694Ala)
|
rs1567218150
|
|
|
NM_024675.4(PALB2):c.2081C>A (p.Thr694Lys)
|
rs1439027692
|
|
|
NM_024675.4(PALB2):c.2081C>G (p.Thr694Arg)
|
rs1439027692
|
|
|
NM_024675.4(PALB2):c.2083A>G (p.Lys695Glu)
|
rs1567218141
|
|
|
NM_024675.4(PALB2):c.2084A>G (p.Lys695Arg)
|
|
|
|
NM_024675.4(PALB2):c.2086A>G (p.Thr696Ala)
|
rs1195275297
|
|
|
NM_024675.4(PALB2):c.2087C>A (p.Thr696Lys)
|
rs587780820
|
|
|
NM_024675.4(PALB2):c.2089G>A (p.Gly697Ser)
|
rs1567218116
|
|
|
NM_024675.4(PALB2):c.208T>C (p.Ser70Pro)
|
rs730881900
|
|
|
NM_024675.4(PALB2):c.2090G>A (p.Gly697Asp)
|
|
|
|
NM_024675.4(PALB2):c.2091C>G (p.Gly697=)
|
rs875989797
|
|
|
NM_024675.4(PALB2):c.2095T>A (p.Ser699Thr)
|
rs1555460493
|
|
|
NM_024675.4(PALB2):c.2096C>T (p.Ser699Phe)
|
rs780397699
|
|
|
NM_024675.4(PALB2):c.2098T>C (p.Ser700Pro)
|
|
|
|
NM_024675.4(PALB2):c.20A>T (p.Lys7Met)
|
rs947155109
|
|
|
NM_024675.4(PALB2):c.2101T>C (p.Ser701Pro)
|
rs1966860532
|
|
|
NM_024675.4(PALB2):c.2102C>G (p.Ser701Cys)
|
rs1429929576
|
|
|
NM_024675.4(PALB2):c.2104A>G (p.Ile702Val)
|
rs587781888
|
|
|
NM_024675.4(PALB2):c.2105T>A (p.Ile702Lys)
|
|
|
|
NM_024675.4(PALB2):c.2108T>C (p.Leu703Ser)
|
|
|
|
NM_024675.4(PALB2):c.2109A>C (p.Leu703Phe)
|
rs1966860376
|
|
|
NM_024675.4(PALB2):c.211+272C>T
|
|
|
|
NM_024675.4(PALB2):c.211+3A>G
|
rs1324112672
|
|
|
NM_024675.4(PALB2):c.211+5del
|
rs752833998
|
|
|
NM_024675.4(PALB2):c.211+6T>A
|
rs1555462024
|
|
|
NM_024675.4(PALB2):c.2111T>G (p.Leu704Arg)
|
rs1555460489
|
|
|
NM_024675.4(PALB2):c.2119C>T (p.Pro707Ser)
|
rs2142380644
|
|
|
NM_024675.4(PALB2):c.211G>A (p.Glu71Lys)
|
|
|
|
NM_024675.4(PALB2):c.212-1G>T
|
rs1597099910
|
|
|
NM_024675.4(PALB2):c.212-3C>T
|
rs878855106
|
|
|
NM_024675.4(PALB2):c.2120C>T (p.Pro707Leu)
|
rs1363384297
|
|
|
NM_024675.4(PALB2):c.2124A>T (p.Leu708Phe)
|
rs1597090058
|
|
|
NM_024675.4(PALB2):c.212A>G (p.Glu71Gly)
|
rs1555461877
|
|
|
NM_024675.4(PALB2):c.2131G>A (p.Val711Ile)
|
rs1555460478
|
|
|
NM_024675.4(PALB2):c.2131G>T (p.Val711Phe)
|
rs1555460478
|
|
|
NM_024675.4(PALB2):c.2137C>T (p.Pro713Ser)
|
rs1555460475
|
|
|
NM_024675.4(PALB2):c.213A>G (p.Glu71=)
|
rs1967062173
|
|
|
NM_024675.4(PALB2):c.2140GAT[1] (p.Asp715del)
|
rs1597089965
|
|
|
NM_024675.4(PALB2):c.2143G>A (p.Asp715Asn)
|
rs2142379989
|
|
|
NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp)
|
rs2142379886
|
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
|
NM_024675.4(PALB2):c.2148_2150dup (p.Asp717dup)
|
rs2142379788
|
|
|
NM_024675.4(PALB2):c.2149G>A (p.Asp717Asn)
|
rs748692809
|
|
|
NM_024675.4(PALB2):c.214C>T (p.Pro72Ser)
|
rs2142448436
|
|
|
NM_024675.4(PALB2):c.2150A>G (p.Asp717Gly)
|
rs1555460469
|
|
|
NM_024675.4(PALB2):c.2150A>T (p.Asp717Val)
|
rs1555460469
|
|
|
NM_024675.4(PALB2):c.2152A>G (p.Arg718Gly)
|
|
|
|
NM_024675.4(PALB2):c.2155C>G (p.Pro719Ala)
|
rs2142379642
|
|
|
NM_024675.4(PALB2):c.2155C>T (p.Pro719Ser)
|
rs2142379642
|
|
|
NM_024675.4(PALB2):c.215C>G (p.Pro72Arg)
|
rs1967062090
|
|
|
NM_024675.4(PALB2):c.2164G>C (p.Asp722His)
|
|
|
|
NM_024675.4(PALB2):c.2164_2165delinsAT (p.Asp722Ile)
|
rs2142379399
|
|
|
NM_024675.4(PALB2):c.2167A>G (p.Met723Val)
|
rs876660336
|
|
|
NM_024675.4(PALB2):c.2170T>C (p.Cys724Arg)
|
rs1597089875
|
|
|
NM_024675.4(PALB2):c.2170T>G (p.Cys724Gly)
|
rs1597089875
|
|
|
NM_024675.4(PALB2):c.2173T>C (p.Ser725Pro)
|
rs2142379132
|
|
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
|
|
NM_024675.4(PALB2):c.2177C>T (p.Pro726Leu)
|
rs1555460461
|
|
|
NM_024675.4(PALB2):c.2180C>T (p.Ala727Val)
|
|
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
|
NM_024675.4(PALB2):c.2189T>C (p.Ile730Thr)
|
rs2142378728
|
|
|
NM_024675.4(PALB2):c.218A>G (p.Lys73Arg)
|
rs2142448330
|
|
|
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del)
|
rs781693946
|
|
|
NM_024675.4(PALB2):c.219A>C (p.Lys73Asn)
|
|
|
|
NM_024675.4(PALB2):c.21G>C (p.Lys7Asn)
|
rs1424944402
|
|
|
NM_024675.4(PALB2):c.21G>T (p.Lys7Asn)
|
rs1424944402
|
|
|
NM_024675.4(PALB2):c.2203C>A (p.Pro735Thr)
|
rs1597089790
|
|
|
NM_024675.4(PALB2):c.2207C>G (p.Ala736Gly)
|
rs746056001
|
|
|
NM_024675.4(PALB2):c.220A>G (p.Asn74Asp)
|
|
|
|
NM_024675.4(PALB2):c.2210T>G (p.Phe737Cys)
|
rs1597089763
|
|
|
NM_024675.4(PALB2):c.2213G>A (p.Gly738Asp)
|
rs1555460450
|
|
|
NM_024675.4(PALB2):c.2215C>T (p.Pro739Ser)
|
rs2142378149
|
|
|
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)
|
rs1966858909
|
|
|
NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2220A>C (p.Gln740His)
|
rs1057523562
|
|
|
NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser)
|
rs1555460440
|
|
|
NM_024675.4(PALB2):c.2222G>A (p.Gly741Asp)
|
|
|
|
NM_024675.4(PALB2):c.2222G>T (p.Gly741Val)
|
rs755907224
|
|
|
NM_024675.4(PALB2):c.2224T>C (p.Ser742Pro)
|
|
|
|
NM_024675.4(PALB2):c.2225C>T (p.Ser742Phe)
|
rs1555460437
|
|
|
NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe)
|
rs141749524
|
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
|
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)
|
rs1060502779
|
|
|
NM_024675.4(PALB2):c.2233A>G (p.Lys745Glu)
|
rs587782064
|
|
|
NM_024675.4(PALB2):c.2236G>A (p.Ala746Thr)
|
rs1555460433
|
|
|
NM_024675.4(PALB2):c.2239T>C (p.Ser747Pro)
|
rs1189203530
|
|
|
NM_024675.4(PALB2):c.2240C>G (p.Ser747Cys)
|
rs1373451258
|
|
|
NM_024675.4(PALB2):c.2245G>A (p.Glu749Lys)
|
|
|
|
NM_024675.4(PALB2):c.2246A>G (p.Glu749Gly)
|
|
|
|
NM_024675.4(PALB2):c.2249T>C (p.Val750Ala)
|
rs1555460430
|
|
|
NM_024675.4(PALB2):c.2254G>A (p.Gly752Arg)
|
rs1966858306
|
|
|
NM_024675.4(PALB2):c.225A>C (p.Lys75Asn)
|
rs1250453452
|
|
|
NM_024675.4(PALB2):c.225A>T (p.Lys75Asn)
|
rs1250453452
|
|
|
NM_024675.4(PALB2):c.2261C>T (p.Thr754Ile)
|
|
|
|
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)
|
rs1060502794
|
|
|
NM_024675.4(PALB2):c.2266T>C (p.Cys756Arg)
|
rs1064795052
|
|
|
NM_024675.4(PALB2):c.2272C>A (p.Pro758Thr)
|
rs1064794078
|
|
|
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg)
|
rs746117401
|
|
|
NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu)
|
rs746117401
|
|
|
NM_024675.4(PALB2):c.2276A>T (p.Gln759Leu)
|
rs1555460421
|
|
|
NM_024675.4(PALB2):c.2277A>C (p.Gln759His)
|
rs786202524
|
|
|
NM_024675.4(PALB2):c.2277A>T (p.Gln759His)
|
|
|
|
NM_024675.4(PALB2):c.2278C>T (p.Leu760Phe)
|
rs769634658
|
|
|
NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)
|
rs1967061407
|
|
|
NM_024675.4(PALB2):c.2281G>A (p.Ala761Thr)
|
|
|
|
NM_024675.4(PALB2):c.2282C>A (p.Ala761Asp)
|
rs878855108
|
|
|
NM_024675.4(PALB2):c.2282C>T (p.Ala761Val)
|
rs878855108
|
|
|
NM_024675.4(PALB2):c.2284C>T (p.His762Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2285A>G (p.His762Arg)
|
rs1238274171
|
|
|
NM_024675.4(PALB2):c.2287T>A (p.Leu763Met)
|
|
|
|
NM_024675.4(PALB2):c.228A>G (p.Ile76Met)
|
rs1555461872
|
|
|
NM_024675.4(PALB2):c.2296T>C (p.Ser766Pro)
|
rs1597089461
|
|
|
NM_024675.4(PALB2):c.2299G>A (p.Val767Ile)
|
rs1312270645
|
|
|
NM_024675.4(PALB2):c.2299G>C (p.Val767Leu)
|
rs1312270645
|
|
|
NM_024675.4(PALB2):c.229T>G (p.Cys77Gly)
|
rs760045493
|
|
|
NM_024675.4(PALB2):c.22C>A (p.Pro8Thr)
|
rs876660586
|
|
|
NM_024675.4(PALB2):c.22C>T (p.Pro8Ser)
|
rs876660586
|
|
|
NM_024675.4(PALB2):c.2302T>C (p.Cys768Arg)
|
rs1597089419
|
|
|
NM_024675.4(PALB2):c.2303G>A (p.Cys768Tyr)
|
rs1060502770
|
|
|
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)
|
rs1060502770
|
|
|
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del)
|
rs1555460399
|
|
|
NM_024675.4(PALB2):c.2309C>T (p.Ala770Val)
|
rs2142375912
|
|
|
NM_024675.4(PALB2):c.230G>A (p.Cys77Tyr)
|
rs1597099850
|
|
|
NM_024675.4(PALB2):c.230G>T (p.Cys77Phe)
|
|
|
|
NM_024675.4(PALB2):c.2314G>A (p.Asp772Asn)
|
rs1597089401
|
|
|
NM_024675.4(PALB2):c.2316T>G (p.Asp772Glu)
|
rs1555460406
|
|
|
NM_024675.4(PALB2):c.2317A>G (p.Thr773Ala)
|
rs1567217632
|
|
|
NM_024675.4(PALB2):c.2317A>T (p.Thr773Ser)
|
rs1567217632
|
|
|
NM_024675.4(PALB2):c.2320A>C (p.Lys774Gln)
|
rs757892044
|
|
|
NM_024675.4(PALB2):c.2320A>G (p.Lys774Glu)
|
rs757892044
|
|
|
NM_024675.4(PALB2):c.2325A>C (p.Gln775His)
|
rs750089867
|
|
|
NM_024675.4(PALB2):c.2325A>T (p.Gln775His)
|
rs750089867
|
|
|
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)
|
rs764925691
|
|
|
NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu)
|
rs45508997
|
|
|
NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr)
|
rs148026749
|
|
|
NM_024675.4(PALB2):c.2332A>G (p.Ser778Gly)
|
rs1567217583
|
|
|
NM_024675.4(PALB2):c.2335T>C (p.Ser779Pro)
|
|
|
|
NM_024675.4(PALB2):c.2335T>G (p.Ser779Ala)
|
rs1064793640
|
|
|
NM_024675.4(PALB2):c.2338G>T (p.Gly780Cys)
|
rs1555460392
|
|
|
NM_024675.4(PALB2):c.2339G>T (p.Gly780Val)
|
rs1966857283
|
|
|
NM_024675.4(PALB2):c.233T>C (p.Val78Ala)
|
rs1313634930
|
|
|
NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln)
|
rs772095244
|
|
|
NM_024675.4(PALB2):c.2345C>T (p.Pro782Leu)
|
rs772095244
|
|
|
NM_024675.4(PALB2):c.2348C>A (p.Ala783Glu)
|
rs1473991269
|
|
|
NM_024675.4(PALB2):c.2348C>T (p.Ala783Val)
|
rs1473991269
|
|
|
NM_024675.4(PALB2):c.2350A>C (p.Lys784Gln)
|
rs1833331932
|
|
|
NM_024675.4(PALB2):c.2351A>C (p.Lys784Thr)
|
|
|
|
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)
|
rs730881889
|
|
|
NM_024675.4(PALB2):c.2357A>G (p.His786Arg)
|
rs774503574
|
|
|
NM_024675.4(PALB2):c.2358T>A (p.His786Gln)
|
|
|
|
NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser)
|
rs201042302
|
|
|
NM_024675.4(PALB2):c.2363C>A (p.Thr788Asn)
|
rs1567217501
|
|
|
NM_024675.4(PALB2):c.2363C>T (p.Thr788Ile)
|
rs1567217501
|
|
|
NM_024675.4(PALB2):c.2369A>G (p.Gln790Arg)
|
rs1966856999
|
|
|
NM_024675.4(PALB2):c.2370A>G (p.Gln790=)
|
rs1555460368
|
|
|
NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser)
|
rs878855109
|
|
|
NM_024675.4(PALB2):c.2382G>T (p.Arg794Ser)
|
rs786203837
|
|
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
rs1966856854
|
|
|
NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys)
|
rs1060502768
|
|
|
NM_024675.4(PALB2):c.238G>A (p.Asp80Asn)
|
rs2142447895
|
|
|
NM_024675.4(PALB2):c.2396C>A (p.Thr799Asn)
|
rs1597089093
|
|
|
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser)
|
rs1567217401
|
|
|
NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly)
|
rs1555460348
|
|
|
NM_024675.4(PALB2):c.2404T>A (p.Cys802Ser)
|
rs1966856613
|
|
|
NM_024675.4(PALB2):c.2405G>A (p.Cys802Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2406T>G (p.Cys802Trp)
|
rs1966856594
|
|
|
NM_024675.4(PALB2):c.2407G>T (p.Asp803Tyr)
|
rs1966856576
|
|
|
NM_024675.4(PALB2):c.2407_2409dup (p.Asp803_Ser804insAsp)
|
|
|
|
NM_024675.4(PALB2):c.240C>A (p.Asp80Glu)
|
rs1597099799
|
|
|
NM_024675.4(PALB2):c.240C>G (p.Asp80Glu)
|
rs1597099799
|
|
|
NM_024675.4(PALB2):c.2411C>G (p.Ser804Cys)
|
rs149836639
|
|
|
NM_024675.4(PALB2):c.2413G>A (p.Val805Ile)
|
rs876659475
|
|
|
NM_024675.4(PALB2):c.2414T>A (p.Val805Asp)
|
rs1567217364
|
|
|
NM_024675.4(PALB2):c.2416C>A (p.Pro806Thr)
|
|
|
|
NM_024675.4(PALB2):c.2417C>A (p.Pro806Gln)
|
rs45464991
|
|
|
NM_024675.4(PALB2):c.2417C>G (p.Pro806Arg)
|
rs45464991
|
|
|
NM_024675.4(PALB2):c.2418G>T (p.Pro806=)
|
rs577076372
|
|
|
NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg)
|
rs1064795507
|
|
|
NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala)
|
rs753204710
|
|
|
NM_024675.4(PALB2):c.2429C>T (p.Pro810Leu)
|
rs1555460335
|
|
|
NM_024675.4(PALB2):c.242A>G (p.Lys81Arg)
|
rs786203440
|
|
|
NM_024675.4(PALB2):c.2431C>T (p.Pro811Ser)
|
rs866520250
|
|
|
NM_024675.4(PALB2):c.2434C>A (p.Pro812Thr)
|
|
|
|
NM_024675.4(PALB2):c.2434C>T (p.Pro812Ser)
|
rs1060502751
|
|
|
NM_024675.4(PALB2):c.2435C>G (p.Pro812Arg)
|
rs774502617
|
|
|
NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu)
|
rs766396469
|
|
|
NM_024675.4(PALB2):c.243G>A (p.Lys81=)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.243G>C (p.Lys81Asn)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.2441A>G (p.Glu814Gly)
|
rs1567217273
|
|
|
NM_024675.4(PALB2):c.2443T>G (p.Ser815Ala)
|
rs746802428
|
|
|
NM_024675.4(PALB2):c.2444C>T (p.Ser815Leu)
|
rs879254068
|
|
|
NM_024675.4(PALB2):c.2446T>A (p.Phe816Ile)
|
|
|
|
NM_024675.4(PALB2):c.2446T>C (p.Phe816Leu)
|
rs1567217251
|
|
|
NM_024675.4(PALB2):c.2448C>A (p.Phe816Leu)
|
rs876659879
|
|
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
rs876659879
|
|
|
NM_024675.4(PALB2):c.2449A>G (p.Thr817Ala)
|
|
|
|
NM_024675.4(PALB2):c.2452T>A (p.Phe818Ile)
|
rs1555460328
|
|
|
NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu)
|
rs1555460328
|
|
|
NM_024675.4(PALB2):c.2458G>A (p.Glu820Lys)
|
rs772048795
|
|
|
NM_024675.4(PALB2):c.2461A>C (p.Asn821His)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2465A>G (p.Gln822Arg)
|
rs1299917568
|
|
|
NM_024675.4(PALB2):c.2466G>T (p.Gln822His)
|
rs1157451265
|
|
|
NM_024675.4(PALB2):c.2471G>A (p.Cys824Tyr)
|
rs1597088831
|
|
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
rs745747228
|
|
|
NM_024675.4(PALB2):c.2477A>G (p.Asn826Ser)
|
rs2142372189
|
|
|
NM_024675.4(PALB2):c.247C>A (p.His83Asn)
|
rs773732106
|
|
|
NM_024675.4(PALB2):c.247C>T (p.His83Tyr)
|
rs773732106
|
|
|
NM_024675.4(PALB2):c.2480C>T (p.Thr827Ile)
|
rs1597088802
|
|
|
NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg)
|
rs876660545
|
|
|
NM_024675.4(PALB2):c.2489A>G (p.Glu830Gly)
|
rs756800333
|
|
|
NM_024675.4(PALB2):c.248A>C (p.His83Pro)
|
rs2142447708
|
|
|
NM_024675.4(PALB2):c.248A>G (p.His83Arg)
|
rs2142447708
|
|
|
NM_024675.4(PALB2):c.2491C>A (p.Leu831Met)
|
rs2142371841
|
|
|
NM_024675.4(PALB2):c.2491C>G (p.Leu831Val)
|
rs2142371841
|
|
|
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)
|
rs901786175
|
|
|
NM_024675.4(PALB2):c.2495A>G (p.His832Arg)
|
|
|
|
NM_024675.4(PALB2):c.2496_2513del (p.His832_Glu837del)
|
rs1966855412
|
|
|
NM_024675.4(PALB2):c.2497_2502del (p.Lys833_His834del)
|
rs2142371632
|
|
|
NM_024675.4(PALB2):c.2499A>T (p.Lys833Asn)
|
rs1567217151
|
|
|
NM_024675.4(PALB2):c.2500C>T (p.His834Tyr)
|
rs1555460308
|
|
|
NM_024675.4(PALB2):c.2501A>G (p.His834Arg)
|
rs1966855645
|
|
|
NM_024675.4(PALB2):c.2503T>G (p.Ser835Ala)
|
rs1343435250
|
|
|
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe)
|
rs876660357
|
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2507T>A (p.Val836Asp)
|
rs1060502793
|
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
|
NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln)
|
rs587778587
|
|
|
NM_024675.4(PALB2):c.250A>G (p.Ile84Val)
|
|
|
|
NM_024675.4(PALB2):c.2513A>G (p.Gln838Arg)
|
rs1555460298
|
|
|
NM_024675.4(PALB2):c.2514+4C>T
|
rs1597088645
|
|
|
NM_024675.4(PALB2):c.2514G>T (p.Gln838His)
|
rs1064794902
|
|
|
NM_024675.4(PALB2):c.2515-3C>G
|
rs957106428
|
|
|
NM_024675.4(PALB2):c.2515-3C>T
|
rs957106428
|
|
|
NM_024675.4(PALB2):c.2515-3_2515-2del
|
|
|
|
NM_024675.4(PALB2):c.2515-7T>G
|
rs1555460231
|
|
|
NM_024675.4(PALB2):c.2515A>C (p.Thr839Pro)
|
|
|
|
NM_024675.4(PALB2):c.2515A>G (p.Thr839Ala)
|
|
|
|
NM_024675.4(PALB2):c.2519A>G (p.Glu840Gly)
|
rs2142369107
|
|
|
NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala)
|
rs368990417
|
|
|
NM_024675.4(PALB2):c.2527G>A (p.Glu843Lys)
|
|
|
|
NM_024675.4(PALB2):c.2528A>G (p.Glu843Gly)
|
|
|
|
NM_024675.4(PALB2):c.2528A>T (p.Glu843Val)
|
rs1966854027
|
|
|
NM_024675.4(PALB2):c.2529G>C (p.Glu843Asp)
|
|
|
|
NM_024675.4(PALB2):c.252C>G (p.Ile84Met)
|
rs1967059537
|
|
|
NM_024675.4(PALB2):c.2530C>T (p.Leu844Phe)
|
rs2142368906
|
|
|
NM_024675.4(PALB2):c.2531T>C (p.Leu844Pro)
|
rs375713631
|
|
|
NM_024675.4(PALB2):c.2531T>G (p.Leu844Arg)
|
rs375713631
|
|
|
NM_024675.4(PALB2):c.2533C>T (p.Pro845Ser)
|
rs1167924094
|
|
|
NM_024675.4(PALB2):c.2534C>T (p.Pro845Leu)
|
rs1597088217
|
|
|
NM_024675.4(PALB2):c.253A>G (p.Lys85Glu)
|
rs1967059440
|
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
|
NM_024675.4(PALB2):c.2543A>G (p.Asp848Gly)
|
rs762129437
|
|
|
NM_024675.4(PALB2):c.2544T>A (p.Asp848Glu)
|
|
|
|
NM_024675.4(PALB2):c.2545A>G (p.Ser849Gly)
|
rs2142368594
|
|
|
NM_024675.4(PALB2):c.2546G>A (p.Ser849Asn)
|
|
|
|
NM_024675.4(PALB2):c.2548A>G (p.Ile850Val)
|
|
|
|
NM_024675.4(PALB2):c.2549T>G (p.Ile850Arg)
|
rs1966853918
|
|
|
NM_024675.4(PALB2):c.254A>G (p.Lys85Arg)
|
rs1597099769
|
|
|
NM_024675.4(PALB2):c.2552A>G (p.Asn851Ser)
|
rs1597088176
|
|
|
NM_024675.4(PALB2):c.2553C>A (p.Asn851Lys)
|
rs2142368337
|
|
|
NM_024675.4(PALB2):c.2554C>T (p.Pro852Ser)
|
|
|
|
NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu)
|
|
|
|
NM_024675.4(PALB2):c.2557G>C (p.Gly853Arg)
|
|
|
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
rs146455175
|
|
|
NM_024675.4(PALB2):c.2562C>G (p.Asn854Lys)
|
rs1966853809
|
|
|
NM_024675.4(PALB2):c.2563C>A (p.Leu855Ile)
|
|
|
|
NM_024675.4(PALB2):c.2566C>A (p.Gln856Lys)
|
rs770996884
|
|
|
NM_024675.4(PALB2):c.2566C>G (p.Gln856Glu)
|
rs770996884
|
|
|
NM_024675.4(PALB2):c.256A>C (p.Thr86Pro)
|
|
|
|
NM_024675.4(PALB2):c.2572G>C (p.Val858Leu)
|
rs1597088111
|
|
|
NM_024675.4(PALB2):c.2578G>A (p.Glu860Lys)
|
|
|
|
NM_024675.4(PALB2):c.2579A>G (p.Glu860Gly)
|
|
|
|
NM_024675.4(PALB2):c.257C>G (p.Thr86Ser)
|
rs1967059270
|
|
|
NM_024675.4(PALB2):c.257C>T (p.Thr86Ile)
|
|
|
|
NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp)
|
rs1348398121
|
|
|
NM_024675.4(PALB2):c.2581T>G (p.Leu861Val)
|
rs1060502763
|
|
|
NM_024675.4(PALB2):c.2583A>T (p.Leu861Phe)
|
rs1966853602
|
|
|
NM_024675.4(PALB2):c.2586+3C>G
|
rs1597088078
|
|
|
NM_024675.4(PALB2):c.2586+3C>T
|
rs1597088078
|
|
|
NM_024675.4(PALB2):c.2586+4A>C
|
|
|
|
NM_024675.4(PALB2):c.2586+6A>G
|
rs1966853543
|
|
|
NM_024675.4(PALB2):c.2586+6A>T
|
rs1966853543
|
|
|
NM_024675.4(PALB2):c.2587-15T>C
|
|
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
|
NM_024675.4(PALB2):c.2587-22A>G
|
|
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
|
NM_024675.4(PALB2):c.2587-6T>C
|
rs1567215608
|
|
|
NM_024675.4(PALB2):c.2587-8T>G
|
rs1489345430
|
|
|
NM_024675.4(PALB2):c.2588A>C (p.Asn863Thr)
|
|
|
|
NM_024675.4(PALB2):c.2590C>A (p.Pro864Thr)
|
rs45568339
|
|
|
NM_024675.4(PALB2):c.2591C>A (p.Pro864His)
|
rs2142356686
|
|
|
NM_024675.4(PALB2):c.2596G>A (p.Gly866Ser)
|
rs780415750
|
|
|
NM_024675.4(PALB2):c.2597G>T (p.Gly866Val)
|
rs62625279
|
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
|
NM_024675.4(PALB2):c.2600C>G (p.Ser867Cys)
|
rs2142356460
|
|
|
NM_024675.4(PALB2):c.2602T>C (p.Cys868Arg)
|
rs1555460026
|
|
|
NM_024675.4(PALB2):c.2602T>G (p.Cys868Gly)
|
rs1555460026
|
|
|
NM_024675.4(PALB2):c.2605T>C (p.Ser869Pro)
|
rs2142356352
|
|
|
NM_024675.4(PALB2):c.2606C>A (p.Ser869Tyr)
|
rs779279139
|
|
|
NM_024675.4(PALB2):c.2606C>G (p.Ser869Cys)
|
rs779279139
|
|
|
NM_024675.4(PALB2):c.2608G>C (p.Val870Leu)
|
rs376641234
|
|
|
NM_024675.4(PALB2):c.2608G>T (p.Val870Leu)
|
rs376641234
|
|
|
NM_024675.4(PALB2):c.2609T>C (p.Val870Ala)
|
rs876659819
|
|
|
NM_024675.4(PALB2):c.2609T>G (p.Val870Gly)
|
rs876659819
|
|
|
NM_024675.4(PALB2):c.2612A>T (p.Asp871Val)
|
rs515726090
|
|
|
NM_024675.4(PALB2):c.2613T>A (p.Asp871Glu)
|
rs1555460011
|
|
|
NM_024675.4(PALB2):c.2614G>A (p.Val872Met)
|
rs1064793628
|
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
|
NM_024675.4(PALB2):c.2620G>T (p.Ala874Ser)
|
|
|
|
NM_024675.4(PALB2):c.2621C>A (p.Ala874Asp)
|
rs1440952139
|
|
|
NM_024675.4(PALB2):c.2623A>G (p.Met875Val)
|
rs1060502750
|
|
|
NM_024675.4(PALB2):c.2623A>T (p.Met875Leu)
|
rs1060502750
|
|
|
NM_024675.4(PALB2):c.2625G>A (p.Met875Ile)
|
rs1966842758
|
|
|
NM_024675.4(PALB2):c.2629T>C (p.Trp877Arg)
|
rs1966842747
|
|
|
NM_024675.4(PALB2):c.262C>G (p.Leu88Val)
|
rs730881901
|
|
|
NM_024675.4(PALB2):c.262C>T (p.Leu88Phe)
|
rs730881901
|
|
|
NM_024675.4(PALB2):c.2635A>G (p.Arg879Gly)
|
rs1555459994
|
|
|
NM_024675.4(PALB2):c.2638G>A (p.Ala880Thr)
|
rs1966842713
|
|
|
NM_024675.4(PALB2):c.2639C>A (p.Ala880Asp)
|
rs1597085237
|
|
|
NM_024675.4(PALB2):c.263T>C (p.Leu88Pro)
|
rs876660270
|
|
|
NM_024675.4(PALB2):c.263T>G (p.Leu88Arg)
|
rs876660270
|
|
|
NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp)
|
rs772499138
|
|
|
NM_024675.4(PALB2):c.2642G>C (p.Gly881Ala)
|
|
|
|
NM_024675.4(PALB2):c.2645G>A (p.Cys882Tyr)
|
rs45486906
|
|
|
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)
|
rs45486906
|
|
|
NM_024675.4(PALB2):c.2647A>G (p.Lys883Glu)
|
rs1966842668
|
|
|
NM_024675.4(PALB2):c.2650G>C (p.Glu884Gln)
|
rs1304351755
|
|
|
NM_024675.4(PALB2):c.2651A>C (p.Glu884Ala)
|
|
|
|
NM_024675.4(PALB2):c.2656T>A (p.Cys886Ser)
|
rs1555459977
|
|
|
NM_024675.4(PALB2):c.2656T>C (p.Cys886Arg)
|
rs1555459977
|
|
|
NM_024675.4(PALB2):c.265G>C (p.Asp89His)
|
rs769790850
|
|
|
NM_024675.4(PALB2):c.2660T>G (p.Ile887Ser)
|
rs45550935
|
|
|
NM_024675.4(PALB2):c.2662A>G (p.Ile888Val)
|
rs786202468
|
|
|
NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu)
|
rs786202468
|
|
|
NM_024675.4(PALB2):c.2665A>G (p.Thr889Ala)
|
rs1966842608
|
|
|
NM_024675.4(PALB2):c.2666C>T (p.Thr889Ile)
|
rs2142354728
|
|
|
NM_024675.4(PALB2):c.2668G>A (p.Ala890Thr)
|
rs1555459971
|
|
|
NM_024675.4(PALB2):c.2668G>C (p.Ala890Pro)
|
rs1555459971
|
|
|
NM_024675.4(PALB2):c.2669C>T (p.Ala890Val)
|
rs1966842597
|
|
|
NM_024675.4(PALB2):c.266A>G (p.Asp89Gly)
|
rs786201790
|
|
|
NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser)
|
rs786204208
|
|
|
NM_024675.4(PALB2):c.2671T>C (p.Cys891Arg)
|
|
|
|
NM_024675.4(PALB2):c.2673_2674delinsGA (p.Cys891_Glu892delinsTrpLys)
|
rs1555459967
|
|
|
NM_024675.4(PALB2):c.2677G>C (p.Asp893His)
|
|
|
|
NM_024675.4(PALB2):c.2678A>C (p.Asp893Ala)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2678A>G (p.Asp893Gly)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2678A>T (p.Asp893Val)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2683G>T (p.Val895Phe)
|
rs1597085101
|
|
|
NM_024675.4(PALB2):c.2686T>C (p.Ser896Pro)
|
rs1966842504
|
|
|
NM_024675.4(PALB2):c.2687C>G (p.Ser896Cys)
|
rs1597085085
|
|
|
NM_024675.4(PALB2):c.2687C>T (p.Ser896Phe)
|
rs1597085085
|
|
|
NM_024675.4(PALB2):c.2690T>C (p.Leu897Pro)
|
rs876660377
|
|
|
NM_024675.4(PALB2):c.2692T>C (p.Trp898Arg)
|
rs776016200
|
|
|
NM_024675.4(PALB2):c.2693G>T (p.Trp898Leu)
|
|
|
|
NM_024675.4(PALB2):c.2695A>C (p.Lys899Gln)
|
|
|
|
NM_024675.4(PALB2):c.2698G>A (p.Ala900Thr)
|
rs1555459946
|
|
|
NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro)
|
rs1555459946
|
|
|
NM_024675.4(PALB2):c.2699C>G (p.Ala900Gly)
|
|
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
|
|
NM_024675.4(PALB2):c.269A>G (p.Glu90Gly)
|
rs1060502807
|
|
|
NM_024675.4(PALB2):c.2702T>C (p.Leu901Pro)
|
rs2142353922
|
|
|
NM_024675.4(PALB2):c.2703_2704delinsTT (p.Asp902Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2707G>C (p.Ala903Pro)
|
rs1324636666
|
|
|
NM_024675.4(PALB2):c.2713C>A (p.Gln905Lys)
|
rs1555459939
|
|
|
NM_024675.4(PALB2):c.2714A>G (p.Gln905Arg)
|
|
|
|
NM_024675.4(PALB2):c.2716T>C (p.Trp906Arg)
|
rs587782815
|
|
|
NM_024675.4(PALB2):c.2716T>G (p.Trp906Gly)
|
rs587782815
|
|
|
NM_024675.4(PALB2):c.2719G>A (p.Glu907Lys)
|
rs1555459933
|
|
|
NM_024675.4(PALB2):c.2722A>C (p.Lys908Gln)
|
rs1966842344
|
|
|
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn)
|
rs1555459932
|
|
|
NM_024675.4(PALB2):c.2728T>C (p.Tyr910His)
|
rs2142353327
|
|
|
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile)
|
rs180177123
|
|
|
NM_024675.4(PALB2):c.2734T>C (p.Trp912Arg)
|
rs1597084930
|
|
|
NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly)
|
|
|
|
NM_024675.4(PALB2):c.2735_2740del (p.Trp912_His913del)
|
|
|
|
NM_024675.4(PALB2):c.2736G>C (p.Trp912Cys)
|
rs1555459925
|
|
|
NM_024675.4(PALB2):c.2737C>T (p.His913Tyr)
|
rs1555459923
|
|
|
NM_024675.4(PALB2):c.2740T>A (p.Phe914Ile)
|
|
|
|
NM_024675.4(PALB2):c.2740T>C (p.Phe914Leu)
|
|
|
|
NM_024675.4(PALB2):c.2742C>A (p.Phe914Leu)
|
rs115759702
|
|
|
NM_024675.4(PALB2):c.2747A>G (p.Glu916Gly)
|
|
|
|
NM_024675.4(PALB2):c.2748G>A (p.Glu916=)
|
|
|
|
NM_024675.4(PALB2):c.2749-15C>G
|
rs1567214528
|
|
|
NM_024675.4(PALB2):c.2749-3T>G
|
rs2142344782
|
|
|
NM_024675.4(PALB2):c.2749-4T>G
|
rs1597082952
|
|
|
NM_024675.4(PALB2):c.2749-5T>G
|
|
|
|
NM_024675.4(PALB2):c.2749G>A (p.Val917Ile)
|
rs753767237
|
|
|
NM_024675.4(PALB2):c.2749G>C (p.Val917Leu)
|
|
|
|
NM_024675.4(PALB2):c.2752C>A (p.Pro918Thr)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2755G>C (p.Val919Leu)
|
rs775193384
|
|
|
NM_024675.4(PALB2):c.2755G>T (p.Val919Leu)
|
rs775193384
|
|
|
NM_024675.4(PALB2):c.2756T>C (p.Val919Ala)
|
rs886041103
|
|
|
NM_024675.4(PALB2):c.2756T>G (p.Val919Gly)
|
rs886041103
|
|
|
NM_024675.4(PALB2):c.275C>T (p.Thr92Ile)
|
|
|
|
NM_024675.4(PALB2):c.2761C>A (p.Gln921Lys)
|
rs180177124
|
|
|
NM_024675.4(PALB2):c.2762A>C (p.Gln921Pro)
|
rs1966827421
|
|
|
NM_024675.4(PALB2):c.2763G>C (p.Gln921His)
|
rs372931676
|
|
|
NM_024675.4(PALB2):c.2764A>G (p.Ile922Val)
|
rs1555459736
|
|
|
NM_024675.4(PALB2):c.2765T>A (p.Ile922Lys)
|
rs1060499822
|
|
|
NM_024675.4(PALB2):c.2765T>G (p.Ile922Arg)
|
|
|
|
NM_024675.4(PALB2):c.2766A>G (p.Ile922Met)
|
rs1597082882
|
|
|
NM_024675.4(PALB2):c.2767G>A (p.Val923Ile)
|
|
|
|
NM_024675.4(PALB2):c.2767G>C (p.Val923Leu)
|
rs767165391
|
|
|
NM_024675.4(PALB2):c.2767G>T (p.Val923Phe)
|
rs767165391
|
|
|
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)
|
rs1597082876
|
|
|
NM_024675.4(PALB2):c.2773G>A (p.Val925Met)
|
rs180177125
|
|
|
NM_024675.4(PALB2):c.2773G>T (p.Val925Leu)
|
|
|
|
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)
|
rs1555459734
|
|
|
NM_024675.4(PALB2):c.2776C>T (p.Pro926Ser)
|
|
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
|
NM_024675.4(PALB2):c.2777_2779del (p.Pro926_Asp927delinsHis)
|
rs1966826533
|
|
|
NM_024675.4(PALB2):c.277G>A (p.Gly93Arg)
|
rs2142447132
|
|
|
NM_024675.4(PALB2):c.2780A>C (p.Asp927Ala)
|
rs62625280
|
|
|
NM_024675.4(PALB2):c.2780A>G (p.Asp927Gly)
|
rs62625280
|
|
|
NM_024675.4(PALB2):c.2782G>C (p.Val928Leu)
|
|
|
|
NM_024675.4(PALB2):c.2785T>C (p.Tyr929His)
|
rs1966826141
|
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
|
NM_024675.4(PALB2):c.2788A>G (p.Asn930Asp)
|
rs1227325413
|
|
|
NM_024675.4(PALB2):c.2789A>C (p.Asn930Thr)
|
rs1966825680
|
|
|
NM_024675.4(PALB2):c.2789A>G (p.Asn930Ser)
|
rs1966825680
|
|
|
NM_024675.4(PALB2):c.278G>A (p.Gly93Glu)
|
rs761863504
|
|
|
NM_024675.4(PALB2):c.2791C>T (p.Leu931Phe)
|
rs1060502786
|
|
|
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro)
|
rs773831304
|
|
|
NM_024675.4(PALB2):c.2795T>G (p.Val932Gly)
|
|
|
|
NM_024675.4(PALB2):c.2797T>A (p.Cys933Ser)
|
|
|
|
NM_024675.4(PALB2):c.2798G>A (p.Cys933Tyr)
|
rs730881891
|
|
|
NM_024675.4(PALB2):c.27C>T (p.Leu9=)
|
|
|
|
NM_024675.4(PALB2):c.2800G>C (p.Val934Leu)
|
rs370243279
|
|
|
NM_024675.4(PALB2):c.2801T>G (p.Val934Gly)
|
rs2142343417
|
|
|
NM_024675.4(PALB2):c.2801_2803dup (p.Val934dup)
|
rs878855112
|
|
|
NM_024675.4(PALB2):c.2803G>A (p.Ala935Thr)
|
|
|
|
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)
|
rs769009609
|
|
|
NM_024675.4(PALB2):c.2804C>T (p.Ala935Val)
|
rs769009609
|
|
|
NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser)
|
rs587780213
|
|
|
NM_024675.4(PALB2):c.2809G>A (p.Gly937Arg)
|
rs1555459712
|
|
|
NM_024675.4(PALB2):c.2809G>C (p.Gly937Arg)
|
rs1555459712
|
|
|
NM_024675.4(PALB2):c.280G>C (p.Glu94Gln)
|
rs45602040
|
|
|
NM_024675.4(PALB2):c.2810G>A (p.Gly937Glu)
|
rs786202641
|
|
|
NM_024675.4(PALB2):c.2810G>C (p.Gly937Ala)
|
|
|
|
NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser)
|
rs1567214357
|
|
|
NM_024675.4(PALB2):c.2815T>G (p.Leu939Val)
|
rs876658742
|
|
|
NM_024675.4(PALB2):c.2817G>C (p.Leu939Phe)
|
rs1555459710
|
|
|
NM_024675.4(PALB2):c.2819A>G (p.Glu940Gly)
|
|
|
|
NM_024675.4(PALB2):c.2824A>G (p.Arg942Gly)
|
rs757055720
|
|
|
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)
|
rs1567214295
|
|
|
NM_024675.4(PALB2):c.2828A>C (p.Glu943Ala)
|
rs1555459707
|
|
|
NM_024675.4(PALB2):c.2829G>C (p.Glu943Asp)
|
rs1555459706
|
|
|
NM_024675.4(PALB2):c.2831T>A (p.Ile944Asn)
|
rs201817103
|
|
|
NM_024675.4(PALB2):c.2833A>G (p.Arg945Gly)
|
|
|
|
NM_024675.4(PALB2):c.2834+21_2834+27del
|
rs515726098
|
|
|
NM_024675.4(PALB2):c.2834+3A>G
|
rs1060502766
|
|
|
NM_024675.4(PALB2):c.2834+4T>C
|
rs982643702
|
|
|
NM_024675.4(PALB2):c.2834G>C (p.Arg945Thr)
|
rs1966823330
|
|
|
NM_024675.4(PALB2):c.2835-5C>G
|
rs1555459605
|
|
|
NM_024675.4(PALB2):c.2835-7G>A
|
rs1060502806
|
|
|
NM_024675.4(PALB2):c.2835-9T>G
|
|
|
|
NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr)
|
rs878855113
|
|
|
NM_024675.4(PALB2):c.2836G>C (p.Ala946Pro)
|
|
|
|
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser)
|
rs878855113
|
|
|
NM_024675.4(PALB2):c.2837C>G (p.Ala946Gly)
|
rs515726100
|
|
|
NM_024675.4(PALB2):c.283A>G (p.Lys95Glu)
|
rs1597099704
|
|
|
NM_024675.4(PALB2):c.2841G>C (p.Leu947Phe)
|
rs45525135
|
|
|
NM_024675.4(PALB2):c.2842T>A (p.Phe948Ile)
|
rs1060502810
|
|
|
NM_024675.4(PALB2):c.2846G>C (p.Cys949Ser)
|
|
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
|
NM_024675.4(PALB2):c.2856T>G (p.Asp952Glu)
|
rs1966804681
|
|
|
NM_024675.4(PALB2):c.2857G>A (p.Asp953Asn)
|
rs1555459584
|
|
|
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)
|
rs1555459583
|
|
|
NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys)
|
rs879254015
|
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
|
NM_024675.4(PALB2):c.2863A>G (p.Ser955Gly)
|
|
|
|
NM_024675.4(PALB2):c.2865T>A (p.Ser955Arg)
|
rs515726102
|
|
|
NM_024675.4(PALB2):c.2867A>G (p.Glu956Gly)
|
rs2142337289
|
|
|
NM_024675.4(PALB2):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_024675.4(PALB2):c.2870A>G (p.Lys957Arg)
|
rs2142337222
|
|
|
NM_024675.4(PALB2):c.2872C>G (p.Gln958Glu)
|
rs1567213829
|
|
|
NM_024675.4(PALB2):c.2873A>C (p.Gln958Pro)
|
rs876659693
|
|
|
NM_024675.4(PALB2):c.2875G>T (p.Val959Leu)
|
rs1064793658
|
|
|
NM_024675.4(PALB2):c.2876T>C (p.Val959Ala)
|
rs2142337057
|
|
|
NM_024675.4(PALB2):c.2879T>C (p.Leu960Pro)
|
|
|
|
NM_024675.4(PALB2):c.287C>T (p.Thr96Ile)
|
rs1967057796
|
|
|
NM_024675.4(PALB2):c.2881C>A (p.Leu961Met)
|
rs61755166
|
|
|
NM_024675.4(PALB2):c.2881_2883del (p.Leu961del)
|
rs1567213797
|
|
|
NM_024675.4(PALB2):c.2882T>C (p.Leu961Pro)
|
rs786203248
|
|
|
NM_024675.4(PALB2):c.2887T>C (p.Ser963Pro)
|
rs2142336778
|
|
|
NM_024675.4(PALB2):c.2890G>A (p.Gly964Arg)
|
rs587781280
|
|
|
NM_024675.4(PALB2):c.2894A>C (p.Asn965Thr)
|
|
|
|
NM_024675.4(PALB2):c.2896A>T (p.Ile966Leu)
|
rs786204248
|
|
|
NM_024675.4(PALB2):c.2897T>A (p.Ile966Lys)
|
rs587780214
|
|
|
NM_024675.4(PALB2):c.2897T>G (p.Ile966Arg)
|
rs587780214
|
|
|
NM_024675.4(PALB2):c.2899A>C (p.Lys967Gln)
|
rs864622525
|
|
|
NM_024675.4(PALB2):c.2899A>G (p.Lys967Glu)
|
rs864622525
|
|
|
NM_024675.4(PALB2):c.289T>C (p.Ser97Pro)
|
rs1456296764
|
|
|
NM_024675.4(PALB2):c.2902G>A (p.Ala968Thr)
|
rs786202813
|
|
|
NM_024675.4(PALB2):c.2903C>T (p.Ala968Val)
|
rs369132015
|
|
|
NM_024675.4(PALB2):c.2906T>A (p.Val969Glu)
|
rs1555459561
|
|
|
NM_024675.4(PALB2):c.2909T>C (p.Leu970Pro)
|
rs2142336251
|
|
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
rs776902295
|
|
|
NM_024675.4(PALB2):c.2911G>C (p.Gly971Arg)
|
rs1555459556
|
|
|
NM_024675.4(PALB2):c.2912G>T (p.Gly971Val)
|
rs1060502754
|
|
|
NM_024675.4(PALB2):c.2915T>C (p.Leu972Pro)
|
rs1064795021
|
|
|
NM_024675.4(PALB2):c.2917A>G (p.Thr973Ala)
|
rs876658154
|
|
|
NM_024675.4(PALB2):c.2918C>A (p.Thr973Lys)
|
rs1465745143
|
|
|
NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile)
|
rs1465745143
|
|
|
NM_024675.4(PALB2):c.2922G>C (p.Lys974Asn)
|
rs730881892
|
|
|
NM_024675.4(PALB2):c.2924G>T (p.Arg975Met)
|
rs2142335927
|
|
|
NM_024675.4(PALB2):c.2930T>C (p.Leu977Pro)
|
rs1060499825
|
|
|
NM_024675.4(PALB2):c.2931A>G (p.Leu977=)
|
rs2142335769
|
|
|
NM_024675.4(PALB2):c.2932G>A (p.Val978Ile)
|
rs1966801130
|
|
|
NM_024675.4(PALB2):c.2934TAG[1] (p.Ser981del)
|
rs1555459539
|
|
|
NM_024675.4(PALB2):c.2936G>A (p.Ser979Asn)
|
|
|
|
NM_024675.4(PALB2):c.2938A>C (p.Ser980Arg)
|
|
|
|
NM_024675.4(PALB2):c.2941A>C (p.Ser981Arg)
|
rs1460156504
|
|
|
NM_024675.4(PALB2):c.2941A>G (p.Ser981Gly)
|
rs1460156504
|
|
|
NM_024675.4(PALB2):c.2943T>G (p.Ser981Arg)
|
rs775585445
|
|
|
NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)
|
rs587782211
|
|
|
NM_024675.4(PALB2):c.294C>G (p.Ile98Met)
|
rs1060502730
|
|
|
NM_024675.4(PALB2):c.2950C>T (p.Leu984Phe)
|
|
|
|
NM_024675.4(PALB2):c.2957A>C (p.Asp986Ala)
|
rs2142335218
|
|
|
NM_024675.4(PALB2):c.2957A>T (p.Asp986Val)
|
|
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
|
NM_024675.4(PALB2):c.2963A>C (p.Gln988Pro)
|
rs1966799521
|
|
|
NM_024675.4(PALB2):c.2966_2968del (p.Val989del)
|
rs1555459526
|
|
|
NM_024675.4(PALB2):c.296C>T (p.Thr99Ile)
|
rs1967056981
|
|
|
NM_024675.4(PALB2):c.2972T>C (p.Val991Ala)
|
rs1064796208
|
|
|
NM_024675.4(PALB2):c.2974A>G (p.Met992Val)
|
rs1555459522
|
|
|
NM_024675.4(PALB2):c.2975T>A (p.Met992Lys)
|
rs1597081111
|
|
|
NM_024675.4(PALB2):c.2975T>C (p.Met992Thr)
|
rs1597081111
|
|
|
NM_024675.4(PALB2):c.2981T>C (p.Phe994Ser)
|
rs876659645
|
|
|
NM_024675.4(PALB2):c.2982T>A (p.Phe994Leu)
|
rs1555459516
|
|
|
NM_024675.4(PALB2):c.2983G>A (p.Ala995Thr)
|
rs2142334456
|
|
|
NM_024675.4(PALB2):c.2983G>T (p.Ala995Ser)
|
rs2142334456
|
|
|
NM_024675.4(PALB2):c.2984C>G (p.Ala995Gly)
|
|
|
|
NM_024675.4(PALB2):c.2984C>T (p.Ala995Val)
|
rs1567213581
|
|
|
NM_024675.4(PALB2):c.298C>G (p.Leu100Val)
|
rs61756147
|
|
|
NM_024675.4(PALB2):c.2990A>T (p.Asp997Val)
|
|
|
|
NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala)
|
rs45551636
|
|
|
NM_024675.4(PALB2):c.2996+3A>G
|
rs876659931
|
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
|
NM_024675.4(PALB2):c.2996G>A (p.Gly999Glu)
|
rs1597081049
|
|
|
NM_024675.4(PALB2):c.2996G>C (p.Gly999Ala)
|
rs1597081049
|
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
|
NM_024675.4(PALB2):c.2997-2A>C
|
rs1555459421
|
|
|
NM_024675.4(PALB2):c.2997-3C>G
|
rs1966773531
|
|
|
NM_024675.4(PALB2):c.2998G>A (p.Gly1000Ser)
|
rs1966773345
|
|
|
NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg)
|
rs1966773345
|
|
|
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)
|
rs1597079946
|
|
|
NM_024675.4(PALB2):c.2999G>T (p.Gly1000Val)
|
rs1597079946
|
|
|
NM_024675.4(PALB2):c.299T>G (p.Leu100Arg)
|
rs1597099643
|
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
|
NM_024675.4(PALB2):c.3009C>A (p.Asn1003Lys)
|
|
|
|
NM_024675.4(PALB2):c.3011A>C (p.Gln1004Pro)
|
rs1555459415
|
|
|
NM_024675.4(PALB2):c.3013T>A (p.Phe1005Ile)
|
rs1555459414
|
|
|
NM_024675.4(PALB2):c.3018G>T (p.Leu1006Phe)
|
rs1597079904
|
|
|
NM_024675.4(PALB2):c.3019A>G (p.Met1007Val)
|
rs2142328121
|
|
|
NM_024675.4(PALB2):c.3019A>T (p.Met1007Leu)
|
|
|
|
NM_024675.4(PALB2):c.301G>A (p.Asp101Asn)
|
|
|
|
NM_024675.4(PALB2):c.301G>C (p.Asp101His)
|
rs794727654
|
|
|
NM_024675.4(PALB2):c.3021G>T (p.Met1007Ile)
|
rs1443207976
|
|
|
NM_024675.4(PALB2):c.3022C>A (p.Pro1008Thr)
|
rs1555459407
|
|
|
NM_024675.4(PALB2):c.3022C>T (p.Pro1008Ser)
|
rs1555459407
|
|
|
NM_024675.4(PALB2):c.3023C>G (p.Pro1008Arg)
|
|
|
|
NM_024675.4(PALB2):c.3023C>T (p.Pro1008Leu)
|
rs1060502736
|
|
|
NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu)
|
rs552354535
|
|
|
NM_024675.4(PALB2):c.3029A>C (p.Glu1010Ala)
|
rs1228569190
|
|
|
NM_024675.4(PALB2):c.3030G>C (p.Glu1010Asp)
|
|
|
|
NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys)
|
rs1302512878
|
|
|
NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val)
|
rs1597079845
|
|
|
NM_024675.4(PALB2):c.3034A>C (p.Thr1012Pro)
|
rs1966771666
|
|
|
NM_024675.4(PALB2):c.3035C>G (p.Thr1012Ser)
|
rs761032954
|
|
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
rs1567212950
|
|
|
NM_024675.4(PALB2):c.3039A>G (p.Ile1013Met)
|
|
|
|
NM_024675.4(PALB2):c.3040C>A (p.Leu1014Ile)
|
rs1966771258
|
|
|
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro)
|
rs876659554
|
|
|
NM_024675.4(PALB2):c.3043A>C (p.Thr1015Pro)
|
rs1966771031
|
|
|
NM_024675.4(PALB2):c.3044C>A (p.Thr1015Asn)
|
rs367840862
|
|
|
NM_024675.4(PALB2):c.3044C>G (p.Thr1015Ser)
|
rs367840862
|
|
|
NM_024675.4(PALB2):c.3047T>C (p.Phe1016Ser)
|
rs879254154
|
|
|
NM_024675.4(PALB2):c.3047T>G (p.Phe1016Cys)
|
rs879254154
|
|
|
NM_024675.4(PALB2):c.3048T>G (p.Phe1016Leu)
|
rs1567212918
|
|
|
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
|
rs759795184
|
|
|
NM_024675.4(PALB2):c.3049G>C (p.Ala1017Pro)
|
rs759795184
|
|
|
NM_024675.4(PALB2):c.3049G>T (p.Ala1017Ser)
|
|
|
|
NM_024675.4(PALB2):c.3050C>G (p.Ala1017Gly)
|
rs2142327332
|
|
|
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala)
|
rs1567212910
|
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
|
NM_024675.4(PALB2):c.3056T>A (p.Val1019Asp)
|
|
|
|
NM_024675.4(PALB2):c.3058_3069dup (p.Gln1020_Gln1023dup)
|
rs1597079690
|
|
|
NM_024675.4(PALB2):c.305T>C (p.Val102Ala)
|
rs1313838988
|
|
|
NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu)
|
rs1597079719
|
|
|
NM_024675.4(PALB2):c.3064A>G (p.Met1022Val)
|
rs1060502792
|
|
|
NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3066G>C (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3066G>T (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3071A>T (p.Glu1024Val)
|
|
|
|
NM_024675.4(PALB2):c.3074C>T (p.Ala1025Val)
|
rs1555459378
|
|
|
NM_024675.4(PALB2):c.3079C>T (p.Leu1027Phe)
|
rs1966769057
|
|
|
NM_024675.4(PALB2):c.307G>C (p.Gly103Arg)
|
|
|
|
NM_024675.4(PALB2):c.3080T>C (p.Leu1027Pro)
|
rs2142326618
|
|
|
NM_024675.4(PALB2):c.3080T>G (p.Leu1027Arg)
|
|
|
|
NM_024675.4(PALB2):c.3082G>C (p.Gly1028Arg)
|
|
|
|
NM_024675.4(PALB2):c.3082G>T (p.Gly1028Cys)
|
|
|
|
NM_024675.4(PALB2):c.3083G>A (p.Gly1028Asp)
|
rs779642624
|
|
|
NM_024675.4(PALB2):c.3083G>T (p.Gly1028Val)
|
rs779642624
|
|
|
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala)
|
rs1567212837
|
|
|
NM_024675.4(PALB2):c.3086C>T (p.Thr1029Ile)
|
rs1966768882
|
|
|
NM_024675.4(PALB2):c.3086CTA[1] (p.Thr1030del)
|
|
|
|
NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala)
|
rs1040452708
|
|
|
NM_024675.4(PALB2):c.3089C>A (p.Thr1030Asn)
|
rs876660109
|
|
|
NM_024675.4(PALB2):c.3089C>T (p.Thr1030Ile)
|
rs876660109
|
|
|
NM_024675.4(PALB2):c.308G>A (p.Gly103Glu)
|
rs876660794
|
|
|
NM_024675.4(PALB2):c.3092T>C (p.Ile1031Thr)
|
rs1966768570
|
|
|
NM_024675.4(PALB2):c.3094A>G (p.Met1032Val)
|
rs1555459367
|
|
|
NM_024675.4(PALB2):c.3095T>G (p.Met1032Arg)
|
rs745562326
|
|
|
NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile)
|
rs778705498
|
|
|
NM_024675.4(PALB2):c.3099C>A (p.Asn1033Lys)
|
rs1057523064
|
|
|
NM_024675.4(PALB2):c.30C>G (p.Ser10Arg)
|
rs758500749
|
|
|
NM_024675.4(PALB2):c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA (p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLeuLeuPhePheMetAsn)
|
rs1966768242
|
|
|
NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser)
|
rs2142326183
|
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
|
NM_024675.4(PALB2):c.3104T>C (p.Ile1035Thr)
|
rs1555459362
|
|
|
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala)
|
rs1555459357
|
|
|
NM_024675.4(PALB2):c.3107T>G (p.Val1036Gly)
|
|
|
|
NM_024675.4(PALB2):c.3109A>G (p.Ile1037Val)
|
rs1966767854
|
|
|
NM_024675.4(PALB2):c.310C>G (p.Pro104Ala)
|
|
|
|
NM_024675.4(PALB2):c.310C>T (p.Pro104Ser)
|
rs1967055763
|
|
|
NM_024675.4(PALB2):c.3110T>C (p.Ile1037Thr)
|
rs1555459356
|
|
|
NM_024675.4(PALB2):c.3113+15_3113+32del
|
|
|
|
NM_024675.4(PALB2):c.3113+6C>A
|
|
|
|
NM_024675.4(PALB2):c.3114-12T>A
|
|
|
|
NM_024675.4(PALB2):c.3114-15T>G
|
|
|
|
NM_024675.4(PALB2):c.3114-3A>G
|
rs1060502784
|
|
|
NM_024675.4(PALB2):c.3114-6T>A
|
|
|
|
NM_024675.4(PALB2):c.3116A>C (p.Asn1039Thr)
|
rs1555458829
|
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
|
NM_024675.4(PALB2):c.3121A>G (p.Lys1041Glu)
|
rs1175812630
|
|
|
NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr)
|
rs781663559
|
|
|
NM_024675.4(PALB2):c.3127G>A (p.Gly1043Ser)
|
rs2142300078
|
|
|
NM_024675.4(PALB2):c.3128G>T (p.Gly1043Val)
|
|
|
|
NM_024675.4(PALB2):c.3130C>A (p.Gln1044Lys)
|
rs766394024
|
|
|
NM_024675.4(PALB2):c.3132A>C (p.Gln1044His)
|
rs587780216
|
|
|
NM_024675.4(PALB2):c.3132A>T (p.Gln1044His)
|
rs587780216
|
|
|
NM_024675.4(PALB2):c.3137T>A (p.Leu1046Gln)
|
|
|
|
NM_024675.4(PALB2):c.3139A>G (p.Lys1047Glu)
|
|
|
|
NM_024675.4(PALB2):c.3143A>G (p.Lys1048Arg)
|
rs515726107
|
|
|
NM_024675.4(PALB2):c.3146T>G (p.Met1049Arg)
|
rs138273800
|
|
|
NM_024675.4(PALB2):c.3148C>T (p.His1050Tyr)
|
rs2142299692
|
|
|
NM_024675.4(PALB2):c.3151A>G (p.Ile1051Val)
|
rs1060502745
|
|
|
NM_024675.4(PALB2):c.3152T>C (p.Ile1051Thr)
|
rs760373091
|
|
|
NM_024675.4(PALB2):c.3153T>G (p.Ile1051Met)
|
rs1168676309
|
|
|
NM_024675.4(PALB2):c.3155A>T (p.Asp1052Val)
|
rs775290401
|
|
|
NM_024675.4(PALB2):c.3157G>T (p.Asp1053Tyr)
|
rs967436311
|
|
|
NM_024675.4(PALB2):c.3159T>G (p.Asp1053Glu)
|
rs1555458816
|
|
|
NM_024675.4(PALB2):c.3161C>T (p.Ser1054Phe)
|
rs1227213725
|
|
|
NM_024675.4(PALB2):c.3163T>C (p.Tyr1055His)
|
rs1319433657
|
|
|
NM_024675.4(PALB2):c.3166C>G (p.Gln1056Glu)
|
rs1021662947
|
|
|
NM_024675.4(PALB2):c.3169G>A (p.Ala1057Thr)
|
|
|
|
NM_024675.4(PALB2):c.3170C>G (p.Ala1057Gly)
|
|
|
|
NM_024675.4(PALB2):c.3172T>G (p.Ser1058Ala)
|
rs863224784
|
|
|
NM_024675.4(PALB2):c.3175G>A (p.Val1059Ile)
|
rs587780217
|
|
|
NM_024675.4(PALB2):c.3175G>T (p.Val1059Phe)
|
|
|
|
NM_024675.4(PALB2):c.3179G>C (p.Cys1060Ser)
|
rs116967702
|
|
|
NM_024675.4(PALB2):c.317C>G (p.Ser106Cys)
|
rs1484403594
|
|
|
NM_024675.4(PALB2):c.3183C>A (p.His1061Gln)
|
|
|
|
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu)
|
rs1567209813
|
|
|
NM_024675.4(PALB2):c.3191A>G (p.Tyr1064Cys)
|
rs730881893
|
|
|
NM_024675.4(PALB2):c.3194C>T (p.Ser1065Phe)
|
rs1347982621
|
|
|
NM_024675.4(PALB2):c.3196G>A (p.Glu1066Lys)
|
rs2142298635
|
|
|
NM_024675.4(PALB2):c.3197_3201+5dup
|
rs1966633635
|
|
|
NM_024675.4(PALB2):c.3199A>C (p.Met1067Leu)
|
rs1966634088
|
|
|
NM_024675.4(PALB2):c.3201+1125T>C
|
rs515726109
|
|
|
NM_024675.4(PALB2):c.3201+2dup
|
rs786203164
|
|
|
NM_024675.4(PALB2):c.3201+3A>C
|
rs876660215
|
|
|
NM_024675.4(PALB2):c.3201+3A>G
|
rs876660215
|
|
|
NM_024675.4(PALB2):c.3201+4A>G
|
rs1226634357
|
|
|
NM_024675.4(PALB2):c.3201+4del
|
rs1555458807
|
|
|
NM_024675.4(PALB2):c.3201+6T>A
|
rs1567209787
|
|
|
NM_024675.4(PALB2):c.3201+6T>C
|
rs1567209787
|
|
|
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)
|
rs1555458809
|
|
|
NM_024675.4(PALB2):c.3202-10C>G
|
|
|
|
NM_024675.4(PALB2):c.3202-13T>C
|
|
|
|
NM_024675.4(PALB2):c.3202-14T>G
|
|
|
|
NM_024675.4(PALB2):c.3202-15_3202-13del
|
|
|
|
NM_024675.4(PALB2):c.3202-5A>G
|
rs1060502746
|
|
|
NM_024675.4(PALB2):c.3202-9C>A
|
|
|
|
NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu)
|
rs759587160
|
|
|
NM_024675.4(PALB2):c.3203G>C (p.Gly1068Ala)
|
rs759587160
|
|
|
NM_024675.4(PALB2):c.3205C>T (p.Leu1069Phe)
|
|
|
|
NM_024675.4(PALB2):c.3206T>C (p.Leu1069Pro)
|
rs2142274393
|
|
|
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro)
|
rs863224785
|
|
|
NM_024675.4(PALB2):c.3211T>C (p.Phe1071Leu)
|
rs1555458228
|
|
|
NM_024675.4(PALB2):c.3215T>C (p.Ile1072Thr)
|
rs2142274254
|
|
|
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)
|
rs1555458226
|
|
|
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu)
|
rs781049663
|
|
|
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)
|
rs1057523330
|
|
|
NM_024675.4(PALB2):c.3221T>G (p.Leu1074Arg)
|
rs1966512549
|
|
|
NM_024675.4(PALB2):c.3222G>C (p.Leu1074=)
|
|
|
|
NM_024675.4(PALB2):c.3224G>A (p.Ser1075Asn)
|
rs2142274025
|
|
|
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr)
|
rs1555458224
|
|
|
NM_024675.4(PALB2):c.3228T>G (p.His1076Gln)
|
rs762367769
|
|
|
NM_024675.4(PALB2):c.3229C>G (p.Pro1077Ala)
|
rs587780218
|
|
|
NM_024675.4(PALB2):c.322A>T (p.Asn108Tyr)
|
rs1240552147
|
|
|
NM_024675.4(PALB2):c.3232T>C (p.Cys1078Arg)
|
|
|
|
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser)
|
rs1567206945
|
|
|
NM_024675.4(PALB2):c.3239A>G (p.Lys1080Arg)
|
rs1441163505
|
|
|
NM_024675.4(PALB2):c.3241G>A (p.Glu1081Lys)
|
rs2142273676
|
|
|
NM_024675.4(PALB2):c.3242A>G (p.Glu1081Gly)
|
rs1363812475
|
|
|
NM_024675.4(PALB2):c.3243G>C (p.Glu1081Asp)
|
rs1966511593
|
|
|
NM_024675.4(PALB2):c.3246T>A (p.Ser1082Arg)
|
rs1064795472
|
|
|
NM_024675.4(PALB2):c.3246T>G (p.Ser1082Arg)
|
rs1064795472
|
|
|
NM_024675.4(PALB2):c.3254T>C (p.Leu1085Ser)
|
rs780524136
|
|
|
NM_024675.4(PALB2):c.3255G>T (p.Leu1085Phe)
|
|
|
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
rs587776527
|
|
|
NM_024675.4(PALB2):c.325C>G (p.Pro109Ala)
|
rs1555461831
|
|
|
NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn)
|
rs863224786
|
|
|
NM_024675.4(PALB2):c.3262C>G (p.Pro1088Ala)
|
rs1060502777
|
|
|
NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser)
|
rs1060502777
|
|
|
NM_024675.4(PALB2):c.3263C>A (p.Pro1088His)
|
rs1966509842
|
|
|
NM_024675.4(PALB2):c.3263C>G (p.Pro1088Arg)
|
rs1966509842
|
|
|
NM_024675.4(PALB2):c.3264_3266dup (p.Val1089dup)
|
rs1060502802
|
|
|
NM_024675.4(PALB2):c.3265G>A (p.Val1089Met)
|
rs1966509780
|
|
|
NM_024675.4(PALB2):c.3265G>T (p.Val1089Leu)
|
rs1966509780
|
|
|
NM_024675.4(PALB2):c.3268T>C (p.Phe1090Leu)
|
rs1597066839
|
|
|
NM_024675.4(PALB2):c.3272A>G (p.Gln1091Arg)
|
rs1597066825
|
|
|
NM_024675.4(PALB2):c.3273G>C (p.Gln1091His)
|
rs1555458200
|
|
|
NM_024675.4(PALB2):c.3275T>C (p.Leu1092Pro)
|
rs1597066815
|
|
|
NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)
|
rs1597066812
|
|
|
NM_024675.4(PALB2):c.3277_3279del (p.Ile1093del)
|
rs1597066803
|
|
|
NM_024675.4(PALB2):c.3280G>A (p.Val1094Met)
|
rs1597066796
|
|
|
NM_024675.4(PALB2):c.3284T>C (p.Ile1095Thr)
|
rs1966508816
|
|
|
NM_024675.4(PALB2):c.3286A>G (p.Asn1096Asp)
|
rs62625281
|
|
|
NM_024675.4(PALB2):c.3287A>G (p.Asn1096Ser)
|
rs786201142
|
|
|
NM_024675.4(PALB2):c.3287_3289del (p.Asn1096_Pro1097delinsThr)
|
|
|
|
NM_024675.4(PALB2):c.3288C>A (p.Asn1096Lys)
|
rs1597066782
|
|
|
NM_024675.4(PALB2):c.3289C>A (p.Pro1097Thr)
|
|
|
|
NM_024675.4(PALB2):c.3289C>T (p.Pro1097Ser)
|
rs1966508272
|
|
|
NM_024675.4(PALB2):c.328G>A (p.Gly110Arg)
|
rs2142445918
|
|
|
NM_024675.4(PALB2):c.328G>C (p.Gly110Arg)
|
|
|
|
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg)
|
rs587781308
|
|
|
NM_024675.4(PALB2):c.3290C>T (p.Pro1097Leu)
|
rs587781308
|
|
|
NM_024675.4(PALB2):c.3292A>G (p.Lys1098Glu)
|
rs2142272407
|
|
|
NM_024675.4(PALB2):c.3294GAC[1] (p.Thr1100del)
|
rs1966507561
|
|
|
NM_024675.4(PALB2):c.3295A>G (p.Thr1099Ala)
|
|
|
|
NM_024675.4(PALB2):c.3296C>A (p.Thr1099Lys)
|
|
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
|
NM_024675.4(PALB2):c.3298A>G (p.Thr1100Ala)
|
rs1966507619
|
|
|
NM_024675.4(PALB2):c.329G>A (p.Gly110Glu)
|
rs1341395298
|
|
|
NM_024675.4(PALB2):c.329G>C (p.Gly110Ala)
|
rs1341395298
|
|
|
NM_024675.4(PALB2):c.32G>A (p.Cys11Tyr)
|
|
|
|
NM_024675.4(PALB2):c.3301C>T (p.Leu1101Phe)
|
rs1966507273
|
|
|
NM_024675.4(PALB2):c.3302T>G (p.Leu1101Arg)
|
rs1555458188
|
|
|
NM_024675.4(PALB2):c.3303C>T (p.Leu1101=)
|
|
|
|
NM_024675.4(PALB2):c.3305G>T (p.Ser1102Ile)
|
rs2142272071
|
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3307G>T (p.Val1103Leu)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3308T>G (p.Val1103Gly)
|
rs1966506776
|
|
|
NM_024675.4(PALB2):c.3310G>T (p.Gly1104Cys)
|
rs188254555
|
|
|
NM_024675.4(PALB2):c.3311G>T (p.Gly1104Val)
|
rs1060502798
|
|
|
NM_024675.4(PALB2):c.3314T>C (p.Val1105Ala)
|
rs2142271779
|
|
|
NM_024675.4(PALB2):c.3315G>A (p.Val1105=)
|
|
|
|
NM_024675.4(PALB2):c.3318G>A (p.Met1106Ile)
|
|
|
|
NM_024675.4(PALB2):c.331G>A (p.Asp111Asn)
|
rs1597099556
|
|
|
NM_024675.4(PALB2):c.331G>C (p.Asp111His)
|
|
|
|
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=)
|
rs515726113
|
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
|
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)
|
rs911734555
|
|
|
NM_024675.4(PALB2):c.3326G>A (p.Cys1109Tyr)
|
rs1597066628
|
|
|
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val)
|
rs878855117
|
|
|
NM_024675.4(PALB2):c.332A>G (p.Asp111Gly)
|
rs2142445830
|
|
|
NM_024675.4(PALB2):c.3331C>T (p.Pro1111Ser)
|
rs864622193
|
|
|
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)
|
rs772480747
|
|
|
NM_024675.4(PALB2):c.3334C>T (p.Pro1112Ser)
|
rs2142271325
|
|
|
NM_024675.4(PALB2):c.333T>A (p.Asp111Glu)
|
|
|
|
NM_024675.4(PALB2):c.3342G>C (p.Gln1114His)
|
rs1567206753
|
|
|
NM_024675.4(PALB2):c.3343G>A (p.Ala1115Thr)
|
rs1567206747
|
|
|
NM_024675.4(PALB2):c.3344C>T (p.Ala1115Val)
|
rs1203633436
|
|
|
NM_024675.4(PALB2):c.3346G>A (p.Gly1116Ser)
|
|
|
|
NM_024675.4(PALB2):c.3347G>A (p.Gly1116Asp)
|
rs1597066554
|
|
|
NM_024675.4(PALB2):c.3348C>T (p.Gly1116=)
|
rs746346966
|
|
|
NM_024675.4(PALB2):c.3350+6T>C
|
rs1567206733
|
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
|
NM_024675.4(PALB2):c.3351-7C>T
|
rs2142255767
|
|
|
NM_024675.4(PALB2):c.3351G>A (p.Arg1117=)
|
rs1966406887
|
|
|
NM_024675.4(PALB2):c.3351G>C (p.Arg1117Ser)
|
|
|
|
NM_024675.4(PALB2):c.3353T>A (p.Phe1118Tyr)
|
rs1966406795
|
|
|
NM_024675.4(PALB2):c.3358G>A (p.Glu1120Lys)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3358G>C (p.Glu1120Gln)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3361G>A (p.Gly1121Ser)
|
rs1597062387
|
|
|
NM_024675.4(PALB2):c.3364G>A (p.Asp1122Asn)
|
|
|
|
NM_024675.4(PALB2):c.3366C>A (p.Asp1122Glu)
|
rs373783514
|
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
|
NM_024675.4(PALB2):c.3367G>C (p.Val1123Leu)
|
rs757118000
|
|
|
NM_024675.4(PALB2):c.3374A>T (p.Asp1125Val)
|
rs1966405277
|
|
|
NM_024675.4(PALB2):c.3375T>A (p.Asp1125Glu)
|
|
|
|
NM_024675.4(PALB2):c.3377A>C (p.His1126Pro)
|
rs752373316
|
|
|
NM_024675.4(PALB2):c.3377A>G (p.His1126Arg)
|
rs752373316
|
|
|
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala)
|
rs1352495486
|
|
|
NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr)
|
|
|
|
NM_024675.4(PALB2):c.3381T>G (p.Cys1127Trp)
|
|
|
|
NM_024675.4(PALB2):c.3383C>G (p.Ala1128Gly)
|
rs1966404870
|
|
|
NM_024675.4(PALB2):c.3385G>A (p.Ala1129Thr)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3385G>C (p.Ala1129Pro)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3385G>T (p.Ala1129Ser)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3386C>A (p.Ala1129Glu)
|
rs1567205179
|
|
|
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val)
|
rs1567205179
|
|
|
NM_024675.4(PALB2):c.3389C>T (p.Ala1130Val)
|
|
|
|
NM_024675.4(PALB2):c.338C>G (p.Pro113Arg)
|
rs374425261
|
|
|
NM_024675.4(PALB2):c.338C>T (p.Pro113Leu)
|
rs374425261
|
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
|
NM_024675.4(PALB2):c.3395T>C (p.Leu1132Ser)
|
rs1597062296
|
|
|
NM_024675.4(PALB2):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_024675.4(PALB2):c.3403G>A (p.Gly1135Arg)
|
|
|
|
NM_024675.4(PALB2):c.3404G>T (p.Gly1135Val)
|
rs730881894
|
|
|
NM_024675.4(PALB2):c.3410T>A (p.Ile1137Asn)
|
|
|
|
NM_024675.4(PALB2):c.3410T>C (p.Ile1137Thr)
|
rs868258231
|
|
|
NM_024675.4(PALB2):c.3413C>G (p.Ala1138Gly)
|
rs1966403381
|
|
|
NM_024675.4(PALB2):c.3413_3414delinsAT (p.Ala1138Asp)
|
|
|
|
NM_024675.4(PALB2):c.3415A>C (p.Ile1139Leu)
|
rs1249960937
|
|
|
NM_024675.4(PALB2):c.3415A>T (p.Ile1139Phe)
|
rs1249960937
|
|
|
NM_024675.4(PALB2):c.3416T>C (p.Ile1139Thr)
|
|
|
|
NM_024675.4(PALB2):c.3418T>A (p.Trp1140Arg)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.3418T>C (p.Trp1140Arg)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)
|
rs1567223045
|
|
|
NM_024675.4(PALB2):c.341_342delinsAT (p.Gly114Asp)
|
rs1967053362
|
|
|
NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn)
|
rs1064795975
|
|
|
NM_024675.4(PALB2):c.3427C>G (p.Leu1143Val)
|
rs368694141
|
|
|
NM_024675.4(PALB2):c.3427C>T (p.Leu1143Phe)
|
|
|
|
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro)
|
rs62625284
|
|
|
NM_024675.4(PALB2):c.3430C>A (p.Leu1144Ile)
|
rs1966401863
|
|
|
NM_024675.4(PALB2):c.3430C>G (p.Leu1144Val)
|
rs1966401863
|
|
|
NM_024675.4(PALB2):c.3432C>A (p.Leu1144=)
|
rs748363227
|
|
|
NM_024675.4(PALB2):c.3432_3433delinsAT (p.Gly1145Cys)
|
rs1555457873
|
|
|
NM_024675.4(PALB2):c.3433G>A (p.Gly1145Ser)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3433G>C (p.Gly1145Arg)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu)
|
rs587780219
|
|
|
NM_024675.4(PALB2):c.3438G>T (p.Gln1146His)
|
|
|
|
NM_024675.4(PALB2):c.3442A>G (p.Thr1148Ala)
|
|
|
|
NM_024675.4(PALB2):c.3443C>T (p.Thr1148Ile)
|
rs2142253712
|
|
|
NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe)
|
rs863224787
|
|
|
NM_024675.4(PALB2):c.3449TCC[1] (p.Leu1151del)
|
rs1597062091
|
|
|
NM_024675.4(PALB2):c.3452T>A (p.Leu1151His)
|
rs730881895
|
|
|
NM_024675.4(PALB2):c.3454C>A (p.Pro1152Thr)
|
rs2142253457
|
|
|
NM_024675.4(PALB2):c.3454C>T (p.Pro1152Ser)
|
|
|
|
NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala)
|
|
|
|
NM_024675.4(PALB2):c.3457C>T (p.Pro1153Ser)
|
rs1966399624
|
|
|
NM_024675.4(PALB2):c.3458C>T (p.Pro1153Leu)
|
rs1567205039
|
|
|
NM_024675.4(PALB2):c.3461T>C (p.Val1154Ala)
|
rs1966399348
|
|
|
NM_024675.4(PALB2):c.3463T>A (p.Ser1155Thr)
|
|
|
|
NM_024675.4(PALB2):c.3463T>C (p.Ser1155Pro)
|
rs1555457858
|
|
|
NM_024675.4(PALB2):c.3469C>G (p.Gln1157Glu)
|
rs1597062038
|
|
|
NM_024675.4(PALB2):c.3470A>C (p.Gln1157Pro)
|
rs1567205033
|
|
|
NM_024675.4(PALB2):c.3471A>C (p.Gln1157His)
|
rs876659978
|
|
|
NM_024675.4(PALB2):c.3471A>G (p.Gln1157=)
|
rs876659978
|
|
|
NM_024675.4(PALB2):c.3474T>A (p.His1158Gln)
|
rs730881896
|
|
|
NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg)
|
rs876660792
|
|
|
NM_024675.4(PALB2):c.347T>C (p.Leu116Ser)
|
rs876660465
|
|
|
NM_024675.4(PALB2):c.3481T>G (p.Phe1161Val)
|
rs2142252804
|
|
|
NM_024675.4(PALB2):c.3483T>A (p.Phe1161Leu)
|
|
|
|
NM_024675.4(PALB2):c.3487A>G (p.Lys1163Glu)
|
rs145369260
|
|
|
NM_024675.4(PALB2):c.3496G>A (p.Gly1166Ser)
|
rs1966397121
|
|
|
NM_024675.4(PALB2):c.3496G>T (p.Gly1166Cys)
|
|
|
|
NM_024675.4(PALB2):c.3497G>A (p.Gly1166Asp)
|
|
|
|
NM_024675.4(PALB2):c.3499A>G (p.Thr1167Ala)
|
rs1597061878
|
|
|
NM_024675.4(PALB2):c.349C>A (p.Pro117Thr)
|
rs1413238389
|
|
|
NM_024675.4(PALB2):c.349C>G (p.Pro117Ala)
|
|
|
|
NM_024675.4(PALB2):c.349C>T (p.Pro117Ser)
|
rs1413238389
|
|
|
NM_024675.4(PALB2):c.34G>A (p.Glu12Lys)
|
rs765520187
|
|
|
NM_024675.4(PALB2):c.34G>C (p.Glu12Gln)
|
rs765520187
|
|
|
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
|
rs745444171
|
|
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
rs1308784980
|
|
|
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu)
|
rs1966396729
|
|
|
NM_024675.4(PALB2):c.3505T>A (p.Ser1169Thr)
|
|
|
|
NM_024675.4(PALB2):c.3506C>G (p.Ser1169Cys)
|
rs1555457848
|
|
|
NM_024675.4(PALB2):c.3508C>A (p.His1170Asn)
|
rs200283306
|
|
|
NM_024675.4(PALB2):c.350C>T (p.Pro117Leu)
|
rs1567223025
|
|
|
NM_024675.4(PALB2):c.3512T>C (p.Leu1171Ser)
|
rs2142251737
|
|
|
NM_024675.4(PALB2):c.3512del (p.Leu1171fs)
|
|
|
|
NM_024675.4(PALB2):c.3514C>G (p.Leu1172Val)
|
rs1966396230
|
|
|
NM_024675.4(PALB2):c.3515T>C (p.Leu1172Pro)
|
rs1555457845
|
|
|
NM_024675.4(PALB2):c.3515T>G (p.Leu1172Arg)
|
rs1555457845
|
|
|
NM_024675.4(PALB2):c.3517G>A (p.Ala1173Thr)
|
rs1555457844
|
|
|
NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser)
|
rs1555457844
|
|
|
NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp)
|
rs146659762
|
|
|
NM_024675.4(PALB2):c.3520G>A (p.Gly1174Arg)
|
rs786203339
|
|
|
NM_024675.4(PALB2):c.3524A>G (p.Gln1175Arg)
|
rs1966395750
|
|
|
NM_024675.4(PALB2):c.352A>G (p.Ile118Val)
|
rs1567223015
|
|
|
NM_024675.4(PALB2):c.3532G>A (p.Gly1178Arg)
|
|
|
|
NM_024675.4(PALB2):c.3532_3537del (p.Gly1178_Asn1179del)
|
rs2142251240
|
|
|
NM_024675.4(PALB2):c.3533G>C (p.Gly1178Ala)
|
|
|
|
NM_024675.4(PALB2):c.3536A>G (p.Asn1179Ser)
|
rs1597061803
|
|
|
NM_024675.4(PALB2):c.3537T>A (p.Asn1179Lys)
|
rs1567204943
|
|
|
NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser)
|
rs587781968
|
|
|
NM_024675.4(PALB2):c.3543del (p.Phe1181fs)
|
rs1567204928
|
|
|
NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu)
|
rs876660474
|
|
|
NM_024675.4(PALB2):c.3547T>G (p.Tyr1183Asp)
|
rs1567204915
|
|
|
NM_024675.4(PALB2):c.3551del (p.His1184fs)
|
rs1597061743
|
|
|
NM_024675.4(PALB2):c.3553T>C (p.Tyr1185His)
|
rs878855120
|
|
|
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp)
|
rs878855120
|
|
|
NM_024675.4(PALB2):c.3557C>G (p.Ser1186Ter)
|
rs2142250676
|
|
|
NM_024675.4(PALB2):c.3559T>C (p.Ter1187Gln)
|
rs1597061731
|
|
|
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)
|
rs1251150895
|
|
|
NM_024675.4(PALB2):c.35A>C (p.Glu12Ala)
|
rs876659744
|
|
|
NM_024675.4(PALB2):c.361A>G (p.Thr121Ala)
|
rs1967052155
|
|
|
NM_024675.4(PALB2):c.364G>A (p.Asp122Asn)
|
rs730881880
|
|
|
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)
|
rs866367185
|
|
|
NM_024675.4(PALB2):c.368A>T (p.Asp123Val)
|
rs2142445019
|
|
|
NM_024675.4(PALB2):c.36G>C (p.Glu12Asp)
|
rs760609798
|
|
|
NM_024675.4(PALB2):c.371C>A (p.Thr124Asn)
|
rs45457297
|
|
|
NM_024675.4(PALB2):c.376G>A (p.Glu126Lys)
|
|
|
|
NM_024675.4(PALB2):c.377A>G (p.Glu126Gly)
|
|
|
|
NM_024675.4(PALB2):c.37G>C (p.Glu13Gln)
|
rs373287455
|
|
|
NM_024675.4(PALB2):c.380A>T (p.His127Leu)
|
rs863224789
|
|
|
NM_024675.4(PALB2):c.385C>T (p.Pro129Ser)
|
rs1174443228
|
|
|
NM_024675.4(PALB2):c.388C>A (p.His130Asn)
|
rs1555461809
|
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
|
NM_024675.4(PALB2):c.389A>C (p.His130Pro)
|
rs1967050224
|
|
|
NM_024675.4(PALB2):c.38A>T (p.Glu13Val)
|
rs876658288
|
|
|
NM_024675.4(PALB2):c.392G>A (p.Arg131Lys)
|
rs1597099403
|
|
|
NM_024675.4(PALB2):c.393G>C (p.Arg131Ser)
|
rs864622461
|
|
|
NM_024675.4(PALB2):c.394G>A (p.Val132Ile)
|
rs1555461807
|
|
|
NM_024675.4(PALB2):c.394G>T (p.Val132Phe)
|
|
|
|
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)
|
rs730881881
|
|
|
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.398G>T (p.Ser133Ile)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.404C>G (p.Pro135Arg)
|
rs1597099361
|
|
|
NM_024675.4(PALB2):c.404C>T (p.Pro135Leu)
|
rs1597099361
|
|
|
NM_024675.4(PALB2):c.406A>G (p.Ser136Gly)
|
rs144496685
|
|
|
NM_024675.4(PALB2):c.407G>A (p.Ser136Asn)
|
|
|
|
NM_024675.4(PALB2):c.408T>G (p.Ser136Arg)
|
rs112202375
|
|
|
NM_024675.4(PALB2):c.410G>T (p.Gly137Val)
|
rs1567222904
|
|
|
NM_024675.4(PALB2):c.413A>C (p.Glu138Ala)
|
rs1322095182
|
|
|
NM_024675.4(PALB2):c.416A>C (p.Gln139Pro)
|
rs1555461800
|
|
|
NM_024675.4(PALB2):c.416A>G (p.Gln139Arg)
|
rs1555461800
|
|
|
NM_024675.4(PALB2):c.41A>G (p.Lys14Arg)
|
rs1555462506
|
|
|
NM_024675.4(PALB2):c.422A>G (p.Gln141Arg)
|
|
|
|
NM_024675.4(PALB2):c.430C>G (p.Pro144Ala)
|
rs1555461798
|
|
|
NM_024675.4(PALB2):c.431C>T (p.Pro144Leu)
|
rs2142443551
|
|
|
NM_024675.4(PALB2):c.433A>G (p.Ser145Gly)
|
rs2142443524
|
|
|
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)
|
rs2142443443
|
|
|
NM_024675.4(PALB2):c.437G>C (p.Arg146Thr)
|
|
|
|
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del)
|
rs760629975
|
|
|
NM_024675.4(PALB2):c.43G>C (p.Glu15Gln)
|
|
|
|
NM_024675.4(PALB2):c.440G>A (p.Arg147Lys)
|
rs1597099275
|
|
|
NM_024675.4(PALB2):c.442A>C (p.Lys148Gln)
|
rs2142443334
|
|
|
NM_024675.4(PALB2):c.444G>C (p.Lys148Asn)
|
rs1060502782
|
|
|
NM_024675.4(PALB2):c.448C>A (p.Gln150Lys)
|
|
|
|
NM_024675.4(PALB2):c.448C>G (p.Gln150Glu)
|
rs1597099241
|
|
|
NM_024675.4(PALB2):c.44A>T (p.Glu15Val)
|
rs1555462501
|
|
|
NM_024675.4(PALB2):c.450G>C (p.Gln150His)
|
rs2142443097
|
|
|
NM_024675.4(PALB2):c.450G>T (p.Gln150His)
|
rs2142443097
|
|
|
NM_024675.4(PALB2):c.451C>A (p.Gln151Lys)
|
rs587776407
|
|
|
NM_024675.4(PALB2):c.452A>T (p.Gln151Leu)
|
rs1967046234
|
|
|
NM_024675.4(PALB2):c.457A>C (p.Arg153=)
|
rs1375458252
|
|
|
NM_024675.4(PALB2):c.458G>A (p.Arg153Lys)
|
rs1967045901
|
|
|
NM_024675.4(PALB2):c.464T>C (p.Phe155Ser)
|
rs1167005475
|
|
|
NM_024675.4(PALB2):c.464T>G (p.Phe155Cys)
|
rs1167005475
|
|
|
NM_024675.4(PALB2):c.467T>C (p.Ile156Thr)
|
|
|
|
NM_024675.4(PALB2):c.474G>C (p.Gln158His)
|
rs878855119
|
|
|
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly)
|
rs1555461786
|
|
|
NM_024675.4(PALB2):c.479G>A (p.Arg160Lys)
|
rs2142442427
|
|
|
NM_024675.4(PALB2):c.47A>G (p.Lys16Arg)
|
rs1064795514
|
|
|
NM_024675.4(PALB2):c.48+13C>A
|
rs1226428051
|
|
|
NM_024675.4(PALB2):c.48+3G>A
|
|
|
|
NM_024675.4(PALB2):c.48+3G>C
|
|
|
|
NM_024675.4(PALB2):c.48+4C>A
|
|
|
|
NM_024675.4(PALB2):c.48+6G>A
|
rs1555462487
|
|
|
NM_024675.4(PALB2):c.48+7G>A
|
|
|
|
NM_024675.4(PALB2):c.48+8G>C
|
|
|
|
NM_024675.4(PALB2):c.48+9G>T
|
|
|
|
NM_024675.4(PALB2):c.482A>T (p.Asp161Val)
|
|
|
|
NM_024675.4(PALB2):c.483C>G (p.Asp161Glu)
|
rs371627753
|
|
|
NM_024675.4(PALB2):c.484T>C (p.Cys162Arg)
|
|
|
|
NM_024675.4(PALB2):c.484T>G (p.Cys162Gly)
|
|
|
|
NM_024675.4(PALB2):c.485G>A (p.Cys162Tyr)
|
rs1555461779
|
|
|
NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)
|
rs1555461779
|
|
|
NM_024675.4(PALB2):c.488T>G (p.Val163Gly)
|
|
|
|
NM_024675.4(PALB2):c.49-2A>G
|
|
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
|
NM_024675.4(PALB2):c.49-2del
|
rs1597101949
|
|
|
NM_024675.4(PALB2):c.49-3C>A
|
|
|
|
NM_024675.4(PALB2):c.49-3C>T
|
|
|
|
NM_024675.4(PALB2):c.491T>G (p.Phe164Cys)
|
|
|
|
NM_024675.4(PALB2):c.493G>A (p.Gly165Ser)
|
rs1967043594
|
|
|
NM_024675.4(PALB2):c.494G>A (p.Gly165Asp)
|
rs1567222798
|
|
|
NM_024675.4(PALB2):c.498T>A (p.Thr166=)
|
rs1597099121
|
|
|
NM_024675.4(PALB2):c.499G>A (p.Asp167Asn)
|
|
|
|
NM_024675.4(PALB2):c.502T>G (p.Ser168Ala)
|
rs2142441892
|
|
|
NM_024675.4(PALB2):c.503C>T (p.Ser168Leu)
|
rs515726122
|
|
|
NM_024675.4(PALB2):c.505C>A (p.Leu169Ile)
|
rs180177086
|
|
|
NM_024675.4(PALB2):c.505C>G (p.Leu169Val)
|
rs180177086
|
|
|
NM_024675.4(PALB2):c.506T>C (p.Leu169Pro)
|
rs2142441769
|
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
|
|
|
NM_024675.4(PALB2):c.509G>T (p.Arg170Ile)
|
rs898765598
|
|
|
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)
|
rs1060502796
|
|
|
NM_024675.4(PALB2):c.510A>T (p.Arg170Ser)
|
|
|
|
NM_024675.4(PALB2):c.511T>A (p.Leu171Met)
|
rs863224790
|
|
|
NM_024675.4(PALB2):c.513G>C (p.Leu171Phe)
|
|
|
|
NM_024675.4(PALB2):c.514T>C (p.Ser172Pro)
|
rs1967041594
|
|
|
NM_024675.4(PALB2):c.515C>T (p.Ser172Phe)
|
rs1597099026
|
|
|
NM_024675.4(PALB2):c.517G>A (p.Gly173Arg)
|
rs878855121
|
|
|
NM_024675.4(PALB2):c.517G>T (p.Gly173Trp)
|
|
|
|
NM_024675.4(PALB2):c.520A>C (p.Lys174Gln)
|
|
|
|
NM_024675.4(PALB2):c.520A>G (p.Lys174Glu)
|
rs2142441340
|
|
|
NM_024675.4(PALB2):c.521A>G (p.Lys174Arg)
|
rs730881902
|
|
|
NM_024675.4(PALB2):c.524G>A (p.Arg175Lys)
|
|
|
|
NM_024675.4(PALB2):c.526C>G (p.Leu176Val)
|
rs1211622922
|
|
|
NM_024675.4(PALB2):c.527T>C (p.Leu176Pro)
|
rs1567222733
|
|
|
NM_024675.4(PALB2):c.52A>C (p.Lys18Gln)
|
rs2142461206
|
|
|
NM_024675.4(PALB2):c.532G>A (p.Glu178Lys)
|
rs1597098960
|
|
|
NM_024675.4(PALB2):c.535C>G (p.Gln179Glu)
|
rs730881903
|
|
|
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys)
|
rs750782778
|
|
|
NM_024675.4(PALB2):c.544A>G (p.Ile182Val)
|
rs1567222712
|
|
|
NM_024675.4(PALB2):c.545T>C (p.Ile182Thr)
|
rs1967039388
|
|
|
NM_024675.4(PALB2):c.550A>G (p.Ser184Gly)
|
rs1597098904
|
|
|
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
rs587780220
|
|
|
NM_024675.4(PALB2):c.553A>G (p.Lys185Glu)
|
rs1967038738
|
|
|
NM_024675.4(PALB2):c.557A>C (p.Asn186Thr)
|
rs587782164
|
|
|
NM_024675.4(PALB2):c.557A>G (p.Asn186Ser)
|
rs587782164
|
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
|
NM_024675.4(PALB2):c.559C>T (p.Pro187Ser)
|
rs1597098885
|
|
|
NM_024675.4(PALB2):c.562G>T (p.Ala188Ser)
|
rs1967038001
|
|
|
NM_024675.4(PALB2):c.565A>G (p.Arg189Gly)
|
rs1967037808
|
|
|
NM_024675.4(PALB2):c.566G>A (p.Arg189Lys)
|
rs764180110
|
|
|
NM_024675.4(PALB2):c.566G>C (p.Arg189Thr)
|
|
|
|
NM_024675.4(PALB2):c.567A>C (p.Arg189Ser)
|
rs1597098858
|
|
|
NM_024675.4(PALB2):c.568T>A (p.Ser190Thr)
|
rs1967037502
|
|
|
NM_024675.4(PALB2):c.571C>A (p.Pro191Thr)
|
rs587780221
|
|
|
NM_024675.4(PALB2):c.571C>G (p.Pro191Ala)
|
rs587780221
|
|
|
NM_024675.4(PALB2):c.571C>T (p.Pro191Ser)
|
|
|
|
NM_024675.4(PALB2):c.572C>G (p.Pro191Arg)
|
|
|
|
NM_024675.4(PALB2):c.572C>T (p.Pro191Leu)
|
rs1001733949
|
|
|
NM_024675.4(PALB2):c.577A>G (p.Thr193Ala)
|
rs1967037000
|
|
|
NM_024675.4(PALB2):c.578C>T (p.Thr193Ile)
|
rs876659823
|
|
|
NM_024675.4(PALB2):c.57G>C (p.Glu19Asp)
|
rs1967112979
|
|
|
NM_024675.4(PALB2):c.580G>A (p.Glu194Lys)
|
rs1967036814
|
|
|
NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
rs760784181
|
|
|
NM_024675.4(PALB2):c.584T>G (p.Ile195Arg)
|
rs587782260
|
|
|
NM_024675.4(PALB2):c.587G>T (p.Arg196Ile)
|
|
|
|
NM_024675.4(PALB2):c.592C>T (p.His198Tyr)
|
rs1967036024
|
|
|
NM_024675.4(PALB2):c.595C>A (p.Leu199Ile)
|
|
|
|
NM_024675.4(PALB2):c.595C>T (p.Leu199Phe)
|
rs876660851
|
|
|
NM_024675.4(PALB2):c.596T>A (p.Leu199His)
|
|
|
|
NM_024675.4(PALB2):c.599T>C (p.Leu200Ser)
|
rs1967035557
|
|
|
NM_024675.4(PALB2):c.601A>C (p.Ser201Arg)
|
|
|
|
NM_024675.4(PALB2):c.602G>A (p.Ser201Asn)
|
rs1060502790
|
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
|
NM_024675.4(PALB2):c.604C>G (p.Leu202Val)
|
rs1597098794
|
|
|
NM_024675.4(PALB2):c.604C>T (p.Leu202Phe)
|
rs1597098794
|
|
|
NM_024675.4(PALB2):c.607A>G (p.Lys203Glu)
|
|
|
|
NM_024675.4(PALB2):c.608A>C (p.Lys203Thr)
|
|
|
|
NM_024675.4(PALB2):c.611C>G (p.Ser204Cys)
|
rs1567222638
|
|
|
NM_024675.4(PALB2):c.615A>C (p.Glu205Asp)
|
rs748128739
|
|
|
NM_024675.4(PALB2):c.617T>G (p.Leu206Arg)
|
|
|
|
NM_024675.4(PALB2):c.619C>A (p.Pro207Thr)
|
rs374090568
|
|
|
NM_024675.4(PALB2):c.619C>T (p.Pro207Ser)
|
rs374090568
|
|
|
NM_024675.4(PALB2):c.61T>G (p.Leu21Val)
|
|
|
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
rs515726125
|
|
|
NM_024675.4(PALB2):c.622G>C (p.Asp208His)
|
rs1597098746
|
|
|
NM_024675.4(PALB2):c.623A>C (p.Asp208Ala)
|
rs1555461702
|
|
|
NM_024675.4(PALB2):c.623A>G (p.Asp208Gly)
|
|
|
|
NM_024675.4(PALB2):c.623A>T (p.Asp208Val)
|
rs1555461702
|
|
|
NM_024675.4(PALB2):c.626C>T (p.Ser209Phe)
|
rs1567222610
|
|
|
NM_024675.4(PALB2):c.628C>A (p.Pro210Thr)
|
rs878976819
|
|
|
NM_024675.4(PALB2):c.628C>G (p.Pro210Ala)
|
rs878976819
|
|
|
NM_024675.4(PALB2):c.62T>C (p.Leu21Ser)
|
rs769240800
|
|
|
NM_024675.4(PALB2):c.631G>C (p.Glu211Gln)
|
|
|
|
NM_024675.4(PALB2):c.632A>G (p.Glu211Gly)
|
rs180177089
|
|
|
NM_024675.4(PALB2):c.634C>G (p.Pro212Ala)
|
rs1967032913
|
|
|
NM_024675.4(PALB2):c.634C>T (p.Pro212Ser)
|
|
|
|
NM_024675.4(PALB2):c.635C>G (p.Pro212Arg)
|
rs1060502742
|
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
|
NM_024675.4(PALB2):c.638T>A (p.Val213Asp)
|
rs1967032445
|
|
|
NM_024675.4(PALB2):c.641C>A (p.Thr214Lys)
|
rs1967032138
|
|
|
NM_024675.4(PALB2):c.643G>A (p.Glu215Lys)
|
rs1555461693
|
|
|
NM_024675.4(PALB2):c.647T>C (p.Ile216Thr)
|
rs1967031858
|
|
|
NM_024675.4(PALB2):c.648T>G (p.Ile216Met)
|
rs1597098670
|
|
|
NM_024675.4(PALB2):c.64G>C (p.Ala22Pro)
|
rs1473970758
|
|
|
NM_024675.4(PALB2):c.652G>A (p.Glu218Lys)
|
rs2142438340
|
|
|
NM_024675.4(PALB2):c.653A>T (p.Glu218Val)
|
rs2142438331
|
|
|
NM_024675.4(PALB2):c.658A>G (p.Ser220Gly)
|
rs2142438155
|
|
|
NM_024675.4(PALB2):c.659G>A (p.Ser220Asn)
|
rs2142438106
|
|
|
NM_024675.4(PALB2):c.659G>C (p.Ser220Thr)
|
rs2142438106
|
|
|
NM_024675.4(PALB2):c.65C>T (p.Ala22Val)
|
rs1967112519
|
|
|
NM_024675.4(PALB2):c.662T>C (p.Val221Ala)
|
rs1967030851
|
|
|
NM_024675.4(PALB2):c.664_666del (p.Leu222del)
|
rs1400223274
|
|
|
NM_024675.4(PALB2):c.665T>C (p.Leu222Ser)
|
rs2142437926
|
|
|
NM_024675.4(PALB2):c.670_671delinsAT (p.Pro224Ile)
|
|
|
|
NM_024675.4(PALB2):c.671C>T (p.Pro224Leu)
|
|
|
|
NM_024675.4(PALB2):c.673C>T (p.Pro225Ser)
|
rs1060502749
|
|
|
NM_024675.4(PALB2):c.676A>G (p.Thr226Ala)
|
rs1555461680
|
|
|
NM_024675.4(PALB2):c.678T>A (p.Thr226=)
|
rs1967029721
|
|
|
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr)
|
rs1555461678
|
|
|
NM_024675.4(PALB2):c.679G>T (p.Ala227Ser)
|
|
|
|
NM_024675.4(PALB2):c.686C>G (p.Pro229Arg)
|
|
|
|
NM_024675.4(PALB2):c.689A>C (p.Glu230Ala)
|
rs1567222506
|
|
|
NM_024675.4(PALB2):c.689A>G (p.Glu230Gly)
|
rs1567222506
|
|
|
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn)
|
rs876658847
|
|
|
NM_024675.4(PALB2):c.694G>T (p.Gly232Cys)
|
rs1967028555
|
|
|
NM_024675.4(PALB2):c.695G>C (p.Gly232Ala)
|
|
|
|
NM_024675.4(PALB2):c.695G>T (p.Gly232Val)
|
rs1365024903
|
|
|
NM_024675.4(PALB2):c.700G>C (p.Asp234His)
|
rs868149939
|
|
|
NM_024675.4(PALB2):c.701A>T (p.Asp234Val)
|
rs1967027890
|
|
|
NM_024675.4(PALB2):c.703A>G (p.Thr235Ala)
|
|
|
|
NM_024675.4(PALB2):c.704C>G (p.Thr235Arg)
|
|
|
|
NM_024675.4(PALB2):c.704C>T (p.Thr235Ile)
|
rs1385914265
|
|
|
NM_024675.4(PALB2):c.706T>A (p.Phe236Ile)
|
rs1196649458
|
|
|
NM_024675.4(PALB2):c.710T>A (p.Leu237Gln)
|
|
|
|
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly)
|
rs779278389
|
|
|
NM_024675.4(PALB2):c.712AGA[1] (p.Arg239del)
|
rs1567222475
|
|
|
NM_024675.4(PALB2):c.713G>A (p.Arg238Lys)
|
rs1567222480
|
|
|
NM_024675.4(PALB2):c.715A>G (p.Arg239Gly)
|
rs1967026821
|
|
|
NM_024675.4(PALB2):c.717A>T (p.Arg239Ser)
|
|
|
|
NM_024675.4(PALB2):c.719C>A (p.Pro240His)
|
|
|
|
NM_024675.4(PALB2):c.719C>G (p.Pro240Arg)
|
rs1466115155
|
|
|
NM_024675.4(PALB2):c.719C>T (p.Pro240Leu)
|
rs1466115155
|
|
|
NM_024675.4(PALB2):c.71T>C (p.Leu24Ser)
|
rs876658653
|
|
|
NM_024675.4(PALB2):c.71T>G (p.Leu24Trp)
|
|
|
|
NM_024675.4(PALB2):c.721A>C (p.Asn241His)
|
rs113217267
|
|
|
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)
|
rs587780823
|
|
|
NM_024675.4(PALB2):c.724T>G (p.Phe242Val)
|
rs1555461663
|
|
|
NM_024675.4(PALB2):c.727A>C (p.Thr243Pro)
|
rs1060502747
|
|
|
NM_024675.4(PALB2):c.728C>G (p.Thr243Ser)
|
|
|
|
NM_024675.4(PALB2):c.728C>T (p.Thr243Ile)
|
rs1967025917
|
|
|
NM_024675.4(PALB2):c.72G>T (p.Leu24Phe)
|
|
|
|
NM_024675.4(PALB2):c.730A>G (p.Arg244Gly)
|
|
|
|
NM_024675.4(PALB2):c.731G>A (p.Arg244Lys)
|
|
|
|
NM_024675.4(PALB2):c.731G>C (p.Arg244Thr)
|
rs764553978
|
|
|
NM_024675.4(PALB2):c.732G>C (p.Arg244Ser)
|
|
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
|
NM_024675.4(PALB2):c.734C>G (p.Ala245Gly)
|
|
|
|
NM_024675.4(PALB2):c.736A>T (p.Thr246Ser)
|
rs1555461659
|
|
|
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile)
|
rs1597098443
|
|
|
NM_024675.4(PALB2):c.739_891dup (p.Thr247_Thr297dup)
|
rs1567222088
|
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
|
NM_024675.4(PALB2):c.742G>C (p.Val248Leu)
|
rs572102702
|
|
|
NM_024675.4(PALB2):c.752A>G (p.Gln251Arg)
|
rs1064795275
|
|
|
NM_024675.4(PALB2):c.753G>C (p.Gln251His)
|
rs863224791
|
|
|
NM_024675.4(PALB2):c.755C>T (p.Thr252Ile)
|
rs1967023769
|
|
|
NM_024675.4(PALB2):c.757C>G (p.Leu253Val)
|
rs565005049
|
|
|
NM_024675.4(PALB2):c.758T>C (p.Leu253Pro)
|
|
|
|
NM_024675.4(PALB2):c.758T>G (p.Leu253Arg)
|
rs2142435363
|
|
|
NM_024675.4(PALB2):c.761C>T (p.Ser254Leu)
|
|
|
|
NM_024675.4(PALB2):c.763G>C (p.Asp255His)
|
rs1567222367
|
|
|
NM_024675.4(PALB2):c.766A>G (p.Ser256Gly)
|
rs1967022496
|
|
|
NM_024675.4(PALB2):c.769G>C (p.Gly257Arg)
|
rs587780824
|
|
|
NM_024675.4(PALB2):c.769G>T (p.Gly257Cys)
|
rs587780824
|
|
|
NM_024675.4(PALB2):c.772A>G (p.Ser258Gly)
|
|
|
|
NM_024675.4(PALB2):c.773G>A (p.Ser258Asn)
|
rs371289600
|
|
|
NM_024675.4(PALB2):c.775A>G (p.Ser259Gly)
|
rs2142434805
|
|
|
NM_024675.4(PALB2):c.777T>A (p.Ser259Arg)
|
rs975045312
|
|
|
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)
|
rs1597098293
|
|
|
NM_024675.4(PALB2):c.77G>T (p.Arg26Met)
|
rs1967111702
|
|
|
NM_024675.4(PALB2):c.781C>A (p.His261Asn)
|
rs1555461626
|
|
|
NM_024675.4(PALB2):c.782A>G (p.His261Arg)
|
|
|
|
NM_024675.4(PALB2):c.782A>T (p.His261Leu)
|
|
|
|
NM_024675.4(PALB2):c.784C>G (p.Leu262Val)
|
rs1967021118
|
|
|
NM_024675.4(PALB2):c.785T>G (p.Leu262Arg)
|
rs1060502732
|
|
|
NM_024675.4(PALB2):c.789A>T (p.Glu263Asp)
|
rs1060502743
|
|
|
NM_024675.4(PALB2):c.790C>A (p.His264Asn)
|
rs1967020660
|
|
|
NM_024675.4(PALB2):c.791A>G (p.His264Arg)
|
|
|
|
NM_024675.4(PALB2):c.793A>G (p.Ile265Val)
|
rs1555461620
|
|
|
NM_024675.4(PALB2):c.796C>A (p.Pro266Thr)
|
|
|
|
NM_024675.4(PALB2):c.796C>T (p.Pro266Ser)
|
rs1967020348
|
|
|
NM_024675.4(PALB2):c.797C>T (p.Pro266Leu)
|
rs1555461619
|
|
|
NM_024675.4(PALB2):c.799C>T (p.Pro267Ser)
|
rs2142434198
|
|
|
NM_024675.4(PALB2):c.7G>A (p.Glu3Lys)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.7G>C (p.Glu3Gln)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.800C>T (p.Pro267Leu)
|
rs1967020152
|
|
|
NM_024675.4(PALB2):c.803A>C (p.Lys268Thr)
|
|
|
|
NM_024675.4(PALB2):c.803A>G (p.Lys268Arg)
|
rs1967019966
|
|
|
NM_024675.4(PALB2):c.804A>C (p.Lys268Asn)
|
rs1967019844
|
|
|
NM_024675.4(PALB2):c.805G>T (p.Gly269Cys)
|
rs1597098242
|
|
|
NM_024675.4(PALB2):c.806G>A (p.Gly269Asp)
|
rs1431508303
|
|
|
NM_024675.4(PALB2):c.806G>T (p.Gly269Val)
|
rs1431508303
|
|
|
NM_024675.4(PALB2):c.809G>A (p.Ser270Asn)
|
rs1597098223
|
|
|
NM_024675.4(PALB2):c.809G>T (p.Ser270Ile)
|
|
|
|
NM_024675.4(PALB2):c.809_823del (p.Ser270_Thr274del)
|
rs2142433594
|
|
|
NM_024675.4(PALB2):c.80A>G (p.Glu27Gly)
|
rs2142460509
|
|
|
NM_024675.4(PALB2):c.810C>A (p.Ser270Arg)
|
rs1567222286
|
|
|
NM_024675.4(PALB2):c.811A>G (p.Ser271Gly)
|
rs1289027047
|
|
|
NM_024675.4(PALB2):c.812G>A (p.Ser271Asn)
|
rs1167051191
|
|
|
NM_024675.4(PALB2):c.813T>G (p.Ser271Arg)
|
rs786203246
|
|
|
NM_024675.4(PALB2):c.820A>C (p.Thr274Pro)
|
rs1567222260
|
|
|
NM_024675.4(PALB2):c.821C>G (p.Thr274Ser)
|
rs867994747
|
|
|
NM_024675.4(PALB2):c.821C>T (p.Thr274Ile)
|
rs867994747
|
|
|
NM_024675.4(PALB2):c.823A>T (p.Thr275Ser)
|
rs1555461608
|
|
|
NM_024675.4(PALB2):c.826C>T (p.His276Tyr)
|
rs876658815
|
|
|
NM_024675.4(PALB2):c.829G>T (p.Asp277Tyr)
|
rs778309339
|
|
|
NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn)
|
rs1060502762
|
|
|
NM_024675.4(PALB2):c.832C>G (p.Leu278Val)
|
rs515726128
|
|
|
NM_024675.4(PALB2):c.833T>C (p.Leu278Pro)
|
|
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
|
NM_024675.4(PALB2):c.836A>C (p.Lys279Thr)
|
rs1967016594
|
|
|
NM_024675.4(PALB2):c.838A>C (p.Asn280His)
|
rs1567222209
|
|
|
NM_024675.4(PALB2):c.839A>G (p.Asn280Ser)
|
rs1597098100
|
|
|
NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys)
|
rs515726129
|
|
|
NM_024675.4(PALB2):c.841A>G (p.Ile281Val)
|
rs751882053
|
|
|
NM_024675.4(PALB2):c.842T>G (p.Ile281Ser)
|
rs950480706
|
|
|
NM_024675.4(PALB2):c.843_845del (p.Arg282del)
|
rs786203247
|
|
|
NM_024675.4(PALB2):c.845G>A (p.Arg282Lys)
|
rs1555461590
|
|
|
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)
|
rs1555461587
|
|
|
NM_024675.4(PALB2):c.847T>C (p.Phe283Leu)
|
|
|
|
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)
|
rs1555461584
|
|
|
NM_024675.4(PALB2):c.851C>T (p.Thr284Ile)
|
rs1555461583
|
|
|
NM_024675.4(PALB2):c.853T>C (p.Ser285Pro)
|
rs1060502776
|
|
|
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu)
|
rs180177094
|
|
|
NM_024675.4(PALB2):c.857C>T (p.Pro286Leu)
|
rs1597098031
|
|
|
NM_024675.4(PALB2):c.859G>T (p.Val287Leu)
|
rs1967014349
|
|
|
NM_024675.4(PALB2):c.85A>G (p.Ser29Gly)
|
rs776110440
|
|
|
NM_024675.4(PALB2):c.863G>A (p.Ser288Asn)
|
rs1967014090
|
|
|
NM_024675.4(PALB2):c.865T>A (p.Leu289Met)
|
rs1967014008
|
|
|
NM_024675.4(PALB2):c.866T>C (p.Leu289Ser)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.866T>G (p.Leu289Trp)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.86_108+12dup
|
rs2142459504
|
|
|
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr)
|
rs878855124
|
|
|
NM_024675.4(PALB2):c.872C>T (p.Ala291Val)
|
rs1411140246
|
|
|
NM_024675.4(PALB2):c.874C>A (p.Gln292Lys)
|
rs1335897946
|
|
|
NM_024675.4(PALB2):c.875A>G (p.Gln292Arg)
|
rs1328100544
|
|
|
NM_024675.4(PALB2):c.876A>C (p.Gln292His)
|
rs1408180894
|
|
|
NM_024675.4(PALB2):c.87C>G (p.Ser29Arg)
|
rs2142460349
|
|
|
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu)
|
rs753676934
|
|
|
NM_024675.4(PALB2):c.886A>T (p.Met296Leu)
|
|
|
|
NM_024675.4(PALB2):c.887T>G (p.Met296Arg)
|
rs1555461566
|
|
|
NM_024675.4(PALB2):c.88A>G (p.Lys30Glu)
|
rs1967110881
|
|
|
NM_024675.4(PALB2):c.890C>T (p.Thr297Ile)
|
rs1967012032
|
|
|
NM_024675.4(PALB2):c.892G>C (p.Val298Leu)
|
rs1060502765
|
|
|
NM_024675.4(PALB2):c.896C>T (p.Ser299Phe)
|
rs1967011427
|
|
|
NM_024675.4(PALB2):c.901G>C (p.Asp301His)
|
rs1967010825
|
|
|
NM_024675.4(PALB2):c.902A>T (p.Asp301Val)
|
rs759014440
|
|
|
NM_024675.4(PALB2):c.904A>T (p.Asn302Tyr)
|
rs2142431479
|
|
|
NM_024675.4(PALB2):c.905A>G (p.Asn302Ser)
|
|
|
|
NM_024675.4(PALB2):c.906CCT[1] (p.Leu304del)
|
rs587780222
|
|
|
NM_024675.4(PALB2):c.907C>G (p.Leu303Val)
|
rs878855125
|
|
|
NM_024675.4(PALB2):c.907C>T (p.Leu303Phe)
|
rs878855125
|
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
|
NM_024675.4(PALB2):c.90G>T (p.Lys30Asn)
|
rs515726130
|
|
|
NM_024675.4(PALB2):c.911T>C (p.Leu304Pro)
|
|
|
|
NM_024675.4(PALB2):c.911T>G (p.Leu304Arg)
|
|
|
|
NM_024675.4(PALB2):c.913G>A (p.Val305Ile)
|
|
|
|
NM_024675.4(PALB2):c.916A>C (p.Asn306His)
|
|
|
|
NM_024675.4(PALB2):c.91A>G (p.Thr31Ala)
|
rs1967110664
|
|
|
NM_024675.4(PALB2):c.91A>T (p.Thr31Ser)
|
|
|
|
NM_024675.4(PALB2):c.920A>C (p.Lys307Thr)
|
rs2142430999
|
|
|
NM_024675.4(PALB2):c.921A>G (p.Lys307=)
|
rs1555461544
|
|
|
NM_024675.4(PALB2):c.923C>T (p.Ala308Val)
|
rs1967009067
|
|
|
NM_024675.4(PALB2):c.926T>C (p.Ile309Thr)
|
|
|
|
NM_024675.4(PALB2):c.926T>G (p.Ile309Arg)
|
rs201588519
|
|
|
NM_024675.4(PALB2):c.927A>G (p.Ile309Met)
|
|
|
|
NM_024675.4(PALB2):c.92C>T (p.Thr31Ile)
|
rs1567224182
|
|
|
NM_024675.4(PALB2):c.931A>G (p.Lys311Glu)
|
rs1060499831
|
|
|
NM_024675.4(PALB2):c.932A>C (p.Lys311Thr)
|
rs755129205
|
|
|
NM_024675.4(PALB2):c.934A>T (p.Ser312Cys)
|
|
|
|
NM_024675.4(PALB2):c.938G>A (p.Gly313Asp)
|
rs1555461531
|
|
|
NM_024675.4(PALB2):c.938G>T (p.Gly313Val)
|
rs1555461531
|
|
|
NM_024675.4(PALB2):c.941A>G (p.Gln314Arg)
|
rs2142430398
|
|
|
NM_024675.4(PALB2):c.947C>T (p.Pro316Leu)
|
rs876658867
|
|
|
NM_024675.4(PALB2):c.94C>A (p.Leu32Ile)
|
rs151316635
|
|
|
NM_024675.4(PALB2):c.955T>C (p.Ser319Pro)
|
rs1555461524
|
|
|
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe)
|
rs200144401
|
|
|
NM_024675.4(PALB2):c.958A>C (p.Asn320His)
|
|
|
|
NM_024675.4(PALB2):c.95T>C (p.Leu32Pro)
|
rs1967110180
|
|
|
NM_024675.4(PALB2):c.961T>G (p.Leu321Val)
|
rs1967005997
|
|
|
NM_024675.4(PALB2):c.964G>A (p.Glu322Lys)
|
rs1597097656
|
|
|
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup)
|
rs876660786
|
|
|
NM_024675.4(PALB2):c.966G>C (p.Glu322Asp)
|
rs1246010785
|
|
|
NM_024675.4(PALB2):c.968C>T (p.Ala323Val)
|
rs730881882
|
|
|
NM_024675.4(PALB2):c.974T>C (p.Ile325Thr)
|
|
|
|
NM_024675.4(PALB2):c.979T>C (p.Cys327Arg)
|
|
|
|
NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)
|
rs747302288
|
|
|
NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr)
|
rs786202550
|
|
|
NM_024675.4(PALB2):c.983C>A (p.Ser328Tyr)
|
rs1567221893
|
|
|
NM_024675.4(PALB2):c.986T>C (p.Leu329Pro)
|
rs2142429260
|
|
|
NM_024675.4(PALB2):c.988A>G (p.Asn330Asp)
|
rs1597097599
|
|
|
NM_024675.4(PALB2):c.98C>A (p.Ala33Asp)
|
rs780769645
|
|
|
NM_024675.4(PALB2):c.98C>T (p.Ala33Val)
|
rs780769645
|
|
|
NM_024675.4(PALB2):c.991G>C (p.Glu331Gln)
|
rs878855126
|
|
|
NM_024675.4(PALB2):c.994C>T (p.Leu332Phe)
|
rs1567221866
|
|
|
NM_024675.4(PALB2):c.995T>C (p.Leu332Pro)
|
rs377149139
|
|
|
NM_024675.4(PALB2):c.997A>G (p.Thr333Ala)
|
rs587782498
|
|
|
NM_024675.4(PALB2):c.998C>A (p.Thr333Asn)
|
rs1567221840
|
|
|
NM_024675.4(PALB2):c.998C>T (p.Thr333Ile)
|
rs1567221840
|
|
|
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp)
|
rs786202325
|
|
|
NM_024691.4(ZNF419):c.73G>T (p.Gly25Cys)
|
rs193920918
|
|
|
NM_024832.5(RIN3):c.-7C>A
|
|
|
|
NM_024832.5(RIN3):c.367+51A>T
|
|
|
|
NM_024832.5(RIN3):c.44+240_44+241inv
|
|
|
|
NM_024832.5(RIN3):c.532+232A>C
|
|
|
|
NM_024832.5(RIN3):c.532+23G>T
|
|
|
|
NM_024940.8(DOCK5):c.5125G>T (p.Ala1709Ser)
|
rs864622027
|
|
|
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
|
rs2139356308
|
|
|
NM_025145.7(CFAP43):c.2051A>G (p.His684Arg)
|
rs193921081
|
|
|
NM_030569.7(ITIH5):c.2545G>T (p.Asp849Tyr)
|
rs193920741
|
|
|
NM_030780.5(SLC25A32):c.548A>G (p.Tyr183Cys)
|
rs864622028
|
|
|
NM_030933.4(SHCBP1L):c.881C>A (p.Thr294Lys)
|
rs193921086
|
|
|
NM_031490.5(LONP2):c.471G>T (p.Leu157Phe)
|
rs193920895
|
|
|
NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter)
|
rs193921043
|
|
|
NM_032043.2(BRIP1):c.(?_-1)_918+?dup
|
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
|
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
|
|
|
|
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)
|
rs1555572724
|
|
|
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs)
|
rs1555572516
|
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
|
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
|
|
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
|
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr)
|
rs2077990704
|
|
|
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys)
|
rs777653224
|
|
|
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
|
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys)
|
rs2145337853
|
|
|
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile)
|
rs863224797
|
|
|
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly)
|
rs2145337483
|
|
|
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg)
|
rs1603343284
|
|
|
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro)
|
rs1414803437
|
|
|
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg)
|
rs1555607734
|
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
|
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del)
|
rs2145336622
|
|
|
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
|
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val)
|
rs1184306036
|
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser)
|
rs2077989056
|
|
|
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala)
|
rs2145335496
|
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
|
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln)
|
rs1289648562
|
|
|
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile)
|
rs775191379
|
|
|
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr)
|
rs2145334735
|
|
|
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser)
|
rs1060501767
|
|
|
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
|
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr)
|
rs2077987772
|
|
|
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
|
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser)
|
rs1555607669
|
|
|
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
|
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys)
|
rs1060501768
|
|
|
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
|
rs786202637
|
|
|
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
|
|
|
|
NM_032043.3(BRIP1):c.1121A>G (p.Asp374Gly)
|
rs1603343117
|
|
|
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr)
|
rs878855135
|
|
|
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val)
|
rs786202192
|
|
|
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val)
|
rs876659688
|
|
|
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly)
|
rs2145852551
|
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys)
|
rs1555607637
|
|
|
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly)
|
rs1555607635
|
|
|
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly)
|
rs1555607633
|
|
|
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn)
|
rs1555618429
|
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+3G>T
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+4A>T
|
rs2077985597
|
|
|
NM_032043.3(BRIP1):c.1140+5G>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+7A>G
|
rs1299846526
|
|
|
NM_032043.3(BRIP1):c.1141-3T>C
|
rs773264592
|
|
|
NM_032043.3(BRIP1):c.1141-5T>A
|
rs1060501760
|
|
|
NM_032043.3(BRIP1):c.1141-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1141-7_1141-3del
|
rs1060501744
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn)
|
rs1452168198
|
|
|
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val)
|
rs1603342360
|
|
|
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr)
|
rs1603342354
|
|
|
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser)
|
rs1060501750
|
|
|
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys)
|
rs1555607230
|
|
|
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del)
|
rs2145309517
|
|
|
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala)
|
rs2145309289
|
|
|
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met)
|
rs1427603031
|
|
|
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His)
|
rs1555607200
|
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
|
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr)
|
rs2077952484
|
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
|
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His)
|
rs587782039
|
|
|
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser)
|
rs2145307952
|
|
|
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln)
|
rs587782816
|
|
|
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp)
|
rs1567829526
|
|
|
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro)
|
rs2078951315
|
|
|
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)
|
rs2078973570
|
|
|
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg)
|
rs756636362
|
|
|
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val)
|
rs876659282
|
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
|
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)
|
rs770930270
|
|
|
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)
|
rs2077950726
|
|
|
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile)
|
rs2145305888
|
|
|
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)
|
rs2145305445
|
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
|
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His)
|
rs1257200897
|
|
|
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
|
|
|
|
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
|
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser)
|
rs1567829310
|
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn)
|
rs2077949084
|
|
|
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe)
|
rs1555618423
|
|
|
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys)
|
rs2077949016
|
|
|
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val)
|
rs2077948964
|
|
|
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
|
|
|
|
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
|
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val)
|
rs1567829230
|
|
|
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile)
|
rs1555607086
|
|
|
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser)
|
rs1466605276
|
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
|
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
|
|
|
|
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp)
|
rs1555607082
|
|
|
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr)
|
rs1555607077
|
|
|
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
|
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
|
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe)
|
rs2145852056
|
|
|
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile)
|
rs1386396228
|
|
|
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
|
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
|
|
|
|
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala)
|
rs878855137
|
|
|
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro)
|
rs1555607056
|
|
|
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser)
|
rs2145300568
|
|
|
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly)
|
rs1458068665
|
|
|
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg)
|
rs1603342146
|
|
|
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser)
|
rs1555607040
|
|
|
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)
|
rs1555607035
|
|
|
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)
|
rs2145299845
|
|
|
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
|
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>T (p.Ile446Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr)
|
rs1555607024
|
|
|
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His)
|
rs2077945752
|
|
|
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1340+3A>C
|
rs1060501770
|
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
|
NM_032043.3(BRIP1):c.1340+6A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+9A>G
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr)
|
rs1603342134
|
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
|
NM_032043.3(BRIP1):c.1341-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu)
|
rs775171520
|
|
|
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys)
|
rs2077857156
|
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
|
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp)
|
rs2077857017
|
|
|
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser)
|
rs1603340413
|
|
|
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys)
|
rs730881640
|
|
|
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala)
|
rs769918040
|
|
|
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
|
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys)
|
rs2077856391
|
|
|
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile)
|
rs1379791142
|
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
|
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His)
|
rs1555605947
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly)
|
rs1369274888
|
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
|
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)
|
rs2145243668
|
|
|
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn)
|
rs1567877002
|
|
|
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln)
|
rs1603340353
|
|
|
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro)
|
rs1555605920
|
|
|
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
|
|
|
|
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr)
|
rs28903098
|
|
|
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly)
|
rs2078973498
|
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
|
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg)
|
rs1369814158
|
|
|
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys)
|
rs2077854841
|
|
|
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg)
|
rs1603340339
|
|
|
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)
|
rs1555605906
|
|
|
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
|
|
|
|
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
|
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
|
NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
|
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro)
|
rs45501097
|
|
|
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln)
|
rs2077853857
|
|
|
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu)
|
rs2077853790
|
|
|
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val)
|
rs1422020047
|
|
|
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile)
|
rs1555605887
|
|
|
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser)
|
rs587780229
|
|
|
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val)
|
rs200062099
|
|
|
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser)
|
rs1555605874
|
|
|
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile)
|
rs2145239872
|
|
|
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr)
|
rs2077853006
|
|
|
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del)
|
rs2077852941
|
|
|
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
|
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile)
|
rs1603340296
|
|
|
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser)
|
rs1450320184
|
|
|
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)
|
rs1237035767
|
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
|
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp)
|
rs2077852333
|
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
|
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1473+3A>T
|
rs2077852092
|
|
|
NM_032043.3(BRIP1):c.1473+4_1473+8del
|
rs730881650
|
|
|
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
|
|
|
|
NM_032043.3(BRIP1):c.1474-10T>C
|
rs1555603645
|
|
|
NM_032043.3(BRIP1):c.1474-11A>G
|
rs1230175864
|
|
|
NM_032043.3(BRIP1):c.1474-5T>G
|
|
|
|
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg)
|
rs2145142389
|
|
|
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val)
|
rs2077672955
|
|
|
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr)
|
rs1555603628
|
|
|
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu)
|
rs1555603626
|
|
|
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala)
|
rs1555603617
|
|
|
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr)
|
rs536081549
|
|
|
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val)
|
rs1555603612
|
|
|
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly)
|
rs2078950409
|
|
|
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile)
|
rs1603337024
|
|
|
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His)
|
rs1555603600
|
|
|
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)
|
rs1555603597
|
|
|
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu)
|
rs2077672083
|
|
|
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
|
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
|
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro)
|
rs1603337009
|
|
|
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu)
|
rs945661395
|
|
|
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln)
|
rs2077671171
|
|
|
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val)
|
rs1555603569
|
|
|
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp)
|
rs2077671034
|
|
|
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys)
|
rs1567817029
|
|
|
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp)
|
rs1555603567
|
|
|
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu)
|
rs1603336991
|
|
|
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp)
|
rs1567816977
|
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
|
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser)
|
rs1603336970
|
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp)
|
rs1555603541
|
|
|
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe)
|
rs2145137902
|
|
|
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr)
|
rs1555603538
|
|
|
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly)
|
rs2077669665
|
|
|
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn)
|
rs757629526
|
|
|
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr)
|
rs913184257
|
|
|
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val)
|
rs2077669449
|
|
|
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro)
|
rs2077669404
|
|
|
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala)
|
rs1555603510
|
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
|
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro)
|
rs587781726
|
|
|
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
|
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
|
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg)
|
rs876659321
|
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
|
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro)
|
rs1603336923
|
|
|
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn)
|
rs751182362
|
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
|
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser)
|
rs878855139
|
|
|
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile)
|
rs2145136186
|
|
|
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
|
|
|
|
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val)
|
rs864622208
|
|
|
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro)
|
rs1567816751
|
|
|
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu)
|
rs1603336907
|
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
|
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=)
|
rs2145135063
|
|
|
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys)
|
rs786203897
|
|
|
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del)
|
rs1555603461
|
|
|
NM_032043.3(BRIP1):c.1628+4del
|
|
|
|
NM_032043.3(BRIP1):c.1628+6T>C
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+6T>G
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1629-3T>G
|
|
|
|
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly)
|
rs2077612367
|
|
|
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly)
|
rs2077612324
|
|
|
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)
|
rs1603367684
|
|
|
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)
|
rs766302517
|
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
|
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val)
|
rs1603334819
|
|
|
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His)
|
rs1060501749
|
|
|
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala)
|
rs2077611229
|
|
|
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His)
|
rs752797989
|
|
|
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro)
|
rs2145096206
|
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1676C>T (p.Thr559Ile)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
|
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
|
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His)
|
rs1209325148
|
|
|
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
|
|
|
|
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)
|
rs2077610488
|
|
|
NM_032043.3(BRIP1):c.1686T>G (p.Ile562Met)
|
|
|
|
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn)
|
rs2145095363
|
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
|
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val)
|
rs577768294
|
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
|
|
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1697A>G (p.Asp566Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr)
|
rs2077609583
|
|
|
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)
|
rs1555602554
|
|
|
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
|
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe)
|
rs370087045
|
|
|
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
|
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)
|
rs1555602537
|
|
|
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)
|
rs587778132
|
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg)
|
rs1411869768
|
|
|
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del)
|
rs1355330975
|
|
|
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser)
|
rs28997571
|
|
|
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser)
|
rs749920386
|
|
|
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro)
|
rs1603334364
|
|
|
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn)
|
rs876660519
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met)
|
rs876660355
|
|
|
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
|
|
|
|
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
|
|
|
|
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe)
|
rs2078949491
|
|
|
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys)
|
rs2077606990
|
|
|
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
|
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)
|
rs876658256
|
|
|
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser)
|
rs587781559
|
|
|
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe)
|
rs1567813260
|
|
|
NM_032043.3(BRIP1):c.1786C>A (p.Pro596Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu)
|
rs864622155
|
|
|
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser)
|
rs2077606219
|
|
|
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly)
|
rs751667661
|
|
|
NM_032043.3(BRIP1):c.1794+13T>G
|
rs2145089397
|
|
|
NM_032043.3(BRIP1):c.1794+2dup
|
rs2077605901
|
|
|
NM_032043.3(BRIP1):c.1794+6C>T
|
rs1429375125
|
|
|
NM_032043.3(BRIP1):c.1795-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.1795-17A>G
|
rs1567812766
|
|
|
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser)
|
rs2145081985
|
|
|
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
|
|
|
|
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe)
|
rs1603368484
|
|
|
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly)
|
rs1555602221
|
|
|
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp)
|
rs2145081033
|
|
|
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln)
|
rs1386348664
|
|
|
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
|
|
|
|
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
|
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
|
|
|
|
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
|
|
|
|
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser)
|
rs1567876917
|
|
|
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser)
|
rs2077597358
|
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
|
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr)
|
rs2145079541
|
|
|
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser)
|
rs1555602203
|
|
|
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val)
|
rs2077597056
|
|
|
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala)
|
rs1397233707
|
|
|
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)
|
rs1603333238
|
|
|
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
|
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val)
|
rs876658346
|
|
|
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val)
|
rs2078949086
|
|
|
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro)
|
rs2077596367
|
|
|
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe)
|
rs2077596312
|
|
|
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys)
|
rs2145077916
|
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
|
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val)
|
rs2145077565
|
|
|
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe)
|
rs2077595930
|
|
|
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg)
|
rs1603367652
|
|
|
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala)
|
rs2077595608
|
|
|
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys)
|
rs780407946
|
|
|
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
|
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg)
|
rs2145076105
|
|
|
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His)
|
rs1060501748
|
|
|
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro)
|
rs2145075890
|
|
|
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys)
|
rs1060501769
|
|
|
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro)
|
rs541203428
|
|
|
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)
|
rs2077594670
|
|
|
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn)
|
rs2145075261
|
|
|
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg)
|
rs1603333030
|
|
|
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val)
|
rs2145075101
|
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
|
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His)
|
rs2145074666
|
|
|
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr)
|
rs2077594282
|
|
|
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu)
|
rs2145074343
|
|
|
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg)
|
rs876660648
|
|
|
NM_032043.3(BRIP1):c.1935+4A>T
|
rs1603332968
|
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
|
NM_032043.3(BRIP1):c.1935+6T>C
|
rs1555602118
|
|
|
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=)
|
rs1254051324
|
|
|
NM_032043.3(BRIP1):c.1936-12T>G
|
|
|
|
NM_032043.3(BRIP1):c.1936-12_1936-10del
|
rs2145034941
|
|
|
NM_032043.3(BRIP1):c.1936-4C>G
|
rs587780552
|
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
|
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
|
|
|
|
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly)
|
rs2077537998
|
|
|
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile)
|
rs2077537888
|
|
|
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro)
|
rs1555618377
|
|
|
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del)
|
rs2078948660
|
|
|
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
|
rs778867622
|
|
|
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu)
|
rs756511744
|
|
|
NM_032043.3(BRIP1):c.195A>C (p.Gln65His)
|
rs141436143
|
|
|
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser)
|
rs1567809053
|
|
|
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser)
|
rs753036322
|
|
|
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg)
|
rs767872111
|
|
|
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg)
|
rs1322017079
|
|
|
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn)
|
rs1064793415
|
|
|
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
|
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser)
|
rs1213142447
|
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
|
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe)
|
rs2078948703
|
|
|
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
|
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)
|
rs2145031487
|
|
|
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
|
|
|
|
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
|
|
|
|
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys)
|
rs1246321339
|
|
|
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)
|
rs764585550
|
|
|
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)
|
rs876661246
|
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
|
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn)
|
rs1567808842
|
|
|
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly)
|
rs1555601087
|
|
|
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)
|
rs1555601081
|
|
|
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met)
|
rs2077535030
|
|
|
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg)
|
rs1555601069
|
|
|
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del)
|
rs2077534052
|
|
|
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu)
|
rs1567808797
|
|
|
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr)
|
rs2077534711
|
|
|
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val)
|
rs1211313166
|
|
|
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe)
|
rs1555601056
|
|
|
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser)
|
rs2077534379
|
|
|
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro)
|
rs2077534218
|
|
|
NM_032043.3(BRIP1):c.205+4A>G
|
rs1060501753
|
|
|
NM_032043.3(BRIP1):c.205+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe)
|
rs2145028133
|
|
|
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu)
|
rs2077533936
|
|
|
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His)
|
rs1603328545
|
|
|
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del)
|
rs2145027145
|
|
|
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met)
|
rs876659296
|
|
|
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp)
|
rs372581879
|
|
|
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
|
|
|
|
NM_032043.3(BRIP1):c.206-1G>T
|
rs1555617934
|
|
|
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala)
|
rs1555601030
|
|
|
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg)
|
rs2145027105
|
|
|
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val)
|
rs587782356
|
|
|
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
|
|
|
|
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro)
|
rs1603328426
|
|
|
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2097+5G>A
|
rs1567808616
|
|
|
NM_032043.3(BRIP1):c.2097+5G>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+6G>A
|
rs1603328382
|
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
|
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=)
|
rs2077034962
|
|
|
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg)
|
rs756412722
|
|
|
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
|
|
|
|
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)
|
rs876659680
|
|
|
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)
|
rs1481107855
|
|
|
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val)
|
rs2077033994
|
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
|
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala)
|
rs1555591505
|
|
|
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2132C>T (p.Thr711Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2134G>A (p.Gly712Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg)
|
rs1603304614
|
|
|
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp)
|
rs2077033211
|
|
|
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)
|
rs1253181575
|
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
|
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro)
|
rs2077032975
|
|
|
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=)
|
rs2077032938
|
|
|
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe)
|
rs2144699040
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del)
|
rs878855146
|
|
|
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu)
|
rs2078910927
|
|
|
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile)
|
rs1603304593
|
|
|
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)
|
rs2077032430
|
|
|
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr)
|
rs1312043643
|
|
|
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met)
|
rs777860588
|
|
|
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile)
|
rs1236873736
|
|
|
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu)
|
rs2144698131
|
|
|
NM_032043.3(BRIP1):c.2177A>G (p.Glu726Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp)
|
rs1555591425
|
|
|
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu)
|
rs2144697784
|
|
|
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His)
|
rs2077031766
|
|
|
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg)
|
rs1555591407
|
|
|
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu)
|
rs1404094308
|
|
|
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys)
|
rs1603304544
|
|
|
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile)
|
rs2077031435
|
|
|
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His)
|
rs2144697244
|
|
|
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser)
|
rs2144697198
|
|
|
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn)
|
rs2144697004
|
|
|
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu)
|
rs2077031257
|
|
|
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln)
|
rs2145831329
|
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
|
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala)
|
rs1555591357
|
|
|
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)
|
rs1555591351
|
|
|
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp)
|
rs2144695971
|
|
|
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser)
|
rs750033391
|
|
|
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
|
|
|
|
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His)
|
rs2144695830
|
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
|
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val)
|
rs2144695654
|
|
|
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys)
|
rs1317680188
|
|
|
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
|
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln)
|
rs760438320
|
|
|
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln)
|
rs876659651
|
|
|
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg)
|
rs876660016
|
|
|
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
|
|
|
|
NM_032043.3(BRIP1):c.2257+3A>G
|
rs2144694655
|
|
|
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His)
|
rs1603304458
|
|
|
NM_032043.3(BRIP1):c.2258-3A>C
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-5T>G
|
rs1555590588
|
|
|
NM_032043.3(BRIP1):c.2258-7G>A
|
rs1060501777
|
|
|
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu)
|
rs2077009355
|
|
|
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu)
|
rs769573395
|
|
|
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly)
|
rs2144679532
|
|
|
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
|
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)
|
rs1555590511
|
|
|
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu)
|
rs200960251
|
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
|
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)
|
rs2144678763
|
|
|
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn)
|
rs2144678538
|
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
|
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser)
|
rs2077008054
|
|
|
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)
|
rs1603303846
|
|
|
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
|
|
|
|
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly)
|
rs1555590457
|
|
|
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu)
|
rs2144677768
|
|
|
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn)
|
rs146091205
|
|
|
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly)
|
rs992780498
|
|
|
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
|
|
|
|
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
|
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr)
|
rs2077007192
|
|
|
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp)
|
rs1555590421
|
|
|
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys)
|
rs2145830931
|
|
|
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro)
|
rs747568830
|
|
|
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val)
|
rs2077006983
|
|
|
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp)
|
rs1567779485
|
|
|
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val)
|
rs776131401
|
|
|
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu)
|
rs2077006387
|
|
|
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)
|
rs863224799
|
|
|
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val)
|
rs1603303771
|
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
|
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg)
|
rs1555590356
|
|
|
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)
|
rs876661097
|
|
|
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala)
|
rs1060501728
|
|
|
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr)
|
rs2145830866
|
|
|
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile)
|
rs2144675104
|
|
|
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2379+17T>G
|
rs2144674490
|
|
|
NM_032043.3(BRIP1):c.2379+4G>A
|
|
|
|
NM_032043.3(BRIP1):c.2380-10A>G
|
rs2061858108
|
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
|
NM_032043.3(BRIP1):c.2380-29A>G
|
|
|
|
NM_032043.3(BRIP1):c.2380-7T>G
|
rs2144384592
|
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
|
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
|
|
|
|
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
|
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys)
|
rs2061856846
|
|
|
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp)
|
rs1408016407
|
|
|
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
|
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu)
|
rs748981650
|
|
|
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr)
|
rs2061856155
|
|
|
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
|
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu)
|
rs747622456
|
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
|
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser)
|
rs1555580892
|
|
|
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
|
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro)
|
rs2061855206
|
|
|
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val)
|
rs2144381821
|
|
|
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr)
|
rs779915262
|
|
|
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)
|
rs2061854737
|
|
|
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg)
|
rs2144381512
|
|
|
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly)
|
rs201869624
|
|
|
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly)
|
rs1338241931
|
|
|
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
|
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro)
|
|
|
|
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu)
|
rs876659594
|
|
|
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val)
|
rs876658697
|
|
|
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys)
|
rs587781572
|
|
|
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys)
|
rs774939280
|
|
|
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His)
|
rs2061853111
|
|
|
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly)
|
rs2061853042
|
|
|
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser)
|
rs876659062
|
|
|
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly)
|
rs2144378901
|
|
|
NM_032043.3(BRIP1):c.2492+3A>C
|
rs1555580758
|
|
|
NM_032043.3(BRIP1):c.2492+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+5G>C
|
rs763222019
|
|
|
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys)
|
rs771382903
|
|
|
NM_032043.3(BRIP1):c.2493-17_2493-16del
|
|
|
|
NM_032043.3(BRIP1):c.2493-3T>G
|
rs2061479378
|
|
|
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
|
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln)
|
rs775547651
|
|
|
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile)
|
rs1060501736
|
|
|
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser)
|
rs2061478740
|
|
|
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser)
|
rs1555574810
|
|
|
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
|
|
|
|
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val)
|
rs1567737801
|
|
|
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr)
|
rs1555574790
|
|
|
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr)
|
rs996693020
|
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
|
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val)
|
rs2144186438
|
|
|
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn)
|
rs876659013
|
|
|
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro)
|
rs2145830182
|
|
|
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2540A>T (p.Asp847Val)
|
|
|
|
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu)
|
rs786202317
|
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
|
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser)
|
rs2144185990
|
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
|
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys)
|
rs587781793
|
|
|
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)
|
rs146031731
|
|
|
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu)
|
rs200894063
|
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
|
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg)
|
rs1555617900
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
|
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr)
|
rs766432760
|
|
|
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)
|
rs1555574712
|
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
|
NM_032043.3(BRIP1):c.2576-17T>G
|
rs1057517647
|
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
|
NM_032043.3(BRIP1):c.2576G>A (p.Gly859Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe)
|
rs1555573507
|
|
|
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro)
|
rs1567732145
|
|
|
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu)
|
rs1603277012
|
|
|
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)
|
rs876660452
|
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
|
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala)
|
rs1294102948
|
|
|
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro)
|
rs781609846
|
|
|
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu)
|
rs1603276987
|
|
|
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys)
|
rs182028200
|
|
|
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala)
|
rs2078973246
|
|
|
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr)
|
rs2061361421
|
|
|
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro)
|
rs864622201
|
|
|
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
|
|
|
|
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln)
|
rs2144117805
|
|
|
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr)
|
rs786203288
|
|
|
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr)
|
rs2061360803
|
|
|
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu)
|
rs587781964
|
|
|
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser)
|
rs758444508
|
|
|
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly)
|
rs1555573469
|
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
|
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg)
|
rs1032574757
|
|
|
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro)
|
rs1567731966
|
|
|
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)
|
rs1555617890
|
|
|
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val)
|
rs1555573465
|
|
|
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys)
|
rs1391013628
|
|
|
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly)
|
rs1202665874
|
|
|
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
|
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2650T>A (p.Phe884Ile)
|
rs587780243
|
|
|
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
|
|
|
|
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr)
|
rs1555617884
|
|
|
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
|
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro)
|
rs2061359359
|
|
|
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg)
|
rs2061359230
|
|
|
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg)
|
rs902432731
|
|
|
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly)
|
rs1349422972
|
|
|
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile)
|
rs754224663
|
|
|
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val)
|
rs2144115542
|
|
|
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His)
|
rs2061358811
|
|
|
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His)
|
rs2144115463
|
|
|
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile)
|
rs1603276880
|
|
|
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu)
|
rs764406913
|
|
|
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser)
|
rs1603276849
|
|
|
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)
|
rs1603276837
|
|
|
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)
|
rs2061357542
|
|
|
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
|
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu)
|
rs1567731807
|
|
|
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)
|
rs1555573412
|
|
|
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)
|
rs1042327124
|
|
|
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr)
|
rs2145829433
|
|
|
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe)
|
rs2061357079
|
|
|
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln)
|
rs1007808618
|
|
|
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly)
|
rs1603276787
|
|
|
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu)
|
rs1555573392
|
|
|
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly)
|
rs2144113358
|
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
|
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala)
|
rs1555573382
|
|
|
NM_032043.3(BRIP1):c.273T>G (p.His91Gln)
|
rs2145829382
|
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
|
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His)
|
rs2144112786
|
|
|
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly)
|
rs1603276749
|
|
|
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)
|
rs755930156
|
|
|
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala)
|
rs1060501759
|
|
|
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)
|
rs587781298
|
|
|
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
|
|
|
|
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn)
|
rs2144112225
|
|
|
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
|
rs2061355023
|
|
|
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro)
|
rs2144112007
|
|
|
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys)
|
rs1555573342
|
|
|
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val)
|
rs1567731533
|
|
|
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr)
|
rs2061355245
|
|
|
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly)
|
rs2061355212
|
|
|
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly)
|
rs2061355061
|
|
|
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro)
|
rs772087074
|
|
|
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)
|
rs745940032
|
|
|
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys)
|
rs778916092
|
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
|
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly)
|
rs2061354479
|
|
|
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu)
|
rs374335608
|
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr)
|
rs2061354305
|
|
|
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val)
|
rs2144110175
|
|
|
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)
|
rs1567731308
|
|
|
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr)
|
rs370330739
|
|
|
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu)
|
rs1401830781
|
|
|
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala)
|
rs786204143
|
|
|
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His)
|
rs1603276606
|
|
|
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
|
|
|
|
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
|
|
|
|
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg)
|
rs876659756
|
|
|
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp)
|
rs1567731150
|
|
|
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn)
|
rs1603276576
|
|
|
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val)
|
rs730881626
|
|
|
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser)
|
rs1060501735
|
|
|
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala)
|
rs587780245
|
|
|
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp)
|
rs587782244
|
|
|
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser)
|
rs2144108643
|
|
|
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
|
rs2061352600
|
|
|
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
|
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro)
|
rs145859791
|
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
|
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)
|
rs2078908690
|
|
|
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn)
|
rs1060501732
|
|
|
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)
|
rs1603276520
|
|
|
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys)
|
rs2061351932
|
|
|
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
|
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr)
|
rs2078908581
|
|
|
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val)
|
rs945685514
|
|
|
NM_032043.3(BRIP1):c.2905+117_2905+118insTA
|
rs2144105643
|
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+4T>A
|
rs373835270
|
|
|
NM_032043.3(BRIP1):c.2905+5G>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-3T>A
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-3T>G
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
|
rs1603275723
|
|
|
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn)
|
rs1555572994
|
|
|
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln)
|
rs1603275707
|
|
|
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
|
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro)
|
rs2061325944
|
|
|
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu)
|
rs1316369686
|
|
|
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn)
|
rs2144093397
|
|
|
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
|
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met)
|
rs746715917
|
|
|
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
|
|
|
|
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
|
|
|
|
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn)
|
rs1603366321
|
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
|
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro)
|
rs2061324880
|
|
|
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe)
|
rs758032378
|
|
|
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn)
|
rs2144092757
|
|
|
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu)
|
rs2061324725
|
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
|
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
|
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
|
rs1555572929
|
|
|
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu)
|
rs1567729513
|
|
|
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg)
|
rs1603275641
|
|
|
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>G (p.Thr997Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
|
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu)
|
rs1603275633
|
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile)
|
rs1603275620
|
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
|
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn)
|
rs1603275610
|
|
|
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3005G>C (p.Trp1002Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
|
|
|
|
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp)
|
rs2145828545
|
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
|
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met)
|
rs1165704345
|
|
|
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser)
|
rs2061323067
|
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His)
|
rs1567729362
|
|
|
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
|
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg)
|
rs2061322186
|
|
|
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
|
|
|
|
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg)
|
rs2061321875
|
|
|
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr)
|
rs1603275556
|
|
|
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
|
rs1555572884
|
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
|
|
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser)
|
rs1555572880
|
|
|
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln)
|
rs587782808
|
|
|
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val)
|
rs2144089594
|
|
|
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro)
|
rs747345595
|
|
|
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)
|
rs147119272
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
|
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg)
|
rs777068696
|
|
|
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
|
rs863224804
|
|
|
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup)
|
rs1187782159
|
|
|
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
|
rs767255426
|
|
|
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)
|
rs876659119
|
|
|
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr)
|
rs765416041
|
|
|
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro)
|
rs367816363
|
|
|
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)
|
rs2145828204
|
|
|
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala)
|
rs2061319595
|
|
|
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile)
|
rs2061319540
|
|
|
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val)
|
rs1555572831
|
|
|
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly)
|
rs1555572828
|
|
|
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn)
|
rs1555572825
|
|
|
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu)
|
rs896510433
|
|
|
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala)
|
rs1567728933
|
|
|
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg)
|
rs2061318138
|
|
|
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr)
|
rs2144086036
|
|
|
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp)
|
rs2144085839
|
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
|
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)
|
rs2061317850
|
|
|
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)
|
rs2061317781
|
|
|
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg)
|
rs2144085714
|
|
|
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg)
|
rs1400975728
|
|
|
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile)
|
rs770517912
|
|
|
NM_032043.3(BRIP1):c.318del (p.His107fs)
|
|
|
|
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu)
|
rs2144084979
|
|
|
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
|
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr)
|
rs2078907400
|
|
|
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe)
|
rs2144084686
|
|
|
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu)
|
rs2061316417
|
|
|
NM_032043.3(BRIP1):c.320A>C (p.His107Pro)
|
rs876659809
|
|
|
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)
|
rs756074244
|
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
|
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)
|
rs1219988835
|
|
|
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr)
|
rs368867532
|
|
|
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu)
|
rs864622113
|
|
|
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr)
|
rs1603275371
|
|
|
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn)
|
rs570238270
|
|
|
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
|
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr)
|
rs1567728640
|
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
|
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val)
|
rs2061314506
|
|
|
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr)
|
rs1567728589
|
|
|
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
|
|
|
|
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)
|
rs2078907245
|
|
|
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)
|
rs1567728557
|
|
|
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg)
|
rs2061314121
|
|
|
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala)
|
rs764205156
|
|
|
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
|
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr)
|
rs768065626
|
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro)
|
rs2061313248
|
|
|
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe)
|
rs1479296707
|
|
|
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup)
|
rs1603275271
|
|
|
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His)
|
rs1555617821
|
|
|
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly)
|
rs876658746
|
|
|
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)
|
rs1034545913
|
|
|
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)
|
rs1361161166
|
|
|
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
|
|
|
|
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val)
|
rs864622072
|
|
|
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)
|
rs2061312470
|
|
|
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly)
|
rs748140041
|
|
|
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val)
|
rs1555572700
|
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
|
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
|
rs1603275236
|
|
|
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile)
|
rs1275343223
|
|
|
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)
|
rs1060501742
|
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
|
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)
|
rs587780248
|
|
|
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val)
|
rs2061311057
|
|
|
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn)
|
rs968860042
|
|
|
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu)
|
rs369843642
|
|
|
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
|
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
|
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro)
|
rs1567728281
|
|
|
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)
|
rs1555572672
|
|
|
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp)
|
rs2061310251
|
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
|
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn)
|
rs1555572663
|
|
|
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
|
|
|
|
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn)
|
rs1555617813
|
|
|
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly)
|
rs2144078743
|
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
|
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
|
NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)
|
|
|
|
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His)
|
rs2144078261
|
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
|
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)
|
rs786202549
|
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
|
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met)
|
rs2061308845
|
|
|
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys)
|
rs1567728145
|
|
|
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
|
rs1555572645
|
|
|
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly)
|
rs1235908208
|
|
|
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
|
rs1603275121
|
|
|
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)
|
rs1555572626
|
|
|
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg)
|
rs2061308258
|
|
|
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
|
|
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
|
|
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
|
NM_032043.3(BRIP1):c.3412G>T (p.Asp1138Tyr)
|
rs587780249
|
|
|
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
|
|
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser)
|
rs1186451404
|
|
|
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)
|
rs1555572613
|
|
|
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
|
|
|
|
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
|
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)
|
rs1217932471
|
|
|
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly)
|
rs2061307264
|
|
|
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu)
|
rs1315917374
|
|
|
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
|
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
|
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
|
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly)
|
rs2061306531
|
|
|
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
|
|
|
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
|
|
|
|
NM_032043.3(BRIP1):c.344C>A (p.Pro115His)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys)
|
rs1555572587
|
|
|
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
|
|
|
|
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly)
|
rs1603275027
|
|
|
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
|
|
|
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)
|
rs1603275008
|
|
|
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met)
|
rs1060504330
|
|
|
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)
|
rs876659655
|
|
|
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)
|
rs2061305104
|
|
|
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe)
|
rs748793974
|
|
|
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
|
|
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly)
|
rs2061304985
|
|
|
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly)
|
rs2061304770
|
|
|
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe)
|
rs771889454
|
|
|
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val)
|
rs2144073872
|
|
|
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser)
|
rs2061304526
|
|
|
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro)
|
rs1555572570
|
|
|
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr)
|
rs749589266
|
|
|
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
|
|
|
|
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala)
|
rs2061304201
|
|
|
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu)
|
rs375741316
|
|
|
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)
|
rs587782552
|
|
|
NM_032043.3(BRIP1):c.3508C>T (p.Leu1170Phe)
|
|
|
|
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs)
|
rs2144073489
|
|
|
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
|
|
|
|
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser)
|
rs878855155
|
|
|
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
|
|
|
|
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu)
|
rs2061303840
|
|
|
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly)
|
rs2144073209
|
|
|
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val)
|
rs2061303537
|
|
|
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
|
|
|
|
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
|
|
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)
|
rs1567727749
|
|
|
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del)
|
rs1603274921
|
|
|
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His)
|
rs2061303001
|
|
|
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)
|
rs1555572535
|
|
|
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val)
|
rs1603274878
|
|
|
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys)
|
rs786201962
|
|
|
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly)
|
rs2061301893
|
|
|
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser)
|
rs2061301683
|
|
|
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
|
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
|
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)
|
rs786202477
|
|
|
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)
|
rs2144071092
|
|
|
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)
|
rs1555572519
|
|
|
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)
|
rs587781677
|
|
|
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe)
|
rs2061300867
|
|
|
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met)
|
rs1603274842
|
|
|
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg)
|
rs730881628
|
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
|
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
|
|
|
|
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala)
|
rs1555618733
|
|
|
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
|
|
|
|
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr)
|
rs2061300384
|
|
|
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala)
|
rs776010326
|
|
|
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)
|
rs2144070111
|
|
|
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly)
|
rs1403310555
|
|
|
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)
|
rs768156067
|
|
|
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met)
|
rs2061299577
|
|
|
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)
|
rs1603274780
|
|
|
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)
|
rs112214651
|
|
|
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)
|
rs1064794200
|
|
|
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile)
|
rs777630298
|
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
|
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)
|
rs2144069324
|
|
|
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)
|
rs2144069259
|
|
|
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)
|
rs2061298986
|
|
|
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)
|
rs1567727417
|
|
|
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala)
|
rs1555617788
|
|
|
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)
|
rs1567727404
|
|
|
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
|
rs2061298543
|
|
|
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)
|
rs2061298409
|
|
|
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
|
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)
|
rs2144068196
|
|
|
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)
|
rs752586524
|
|
|
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)
|
rs770175142
|
|
|
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)
|
rs2061297923
|
|
|
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)
|
rs2144067914
|
|
|
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)
|
rs2144067889
|
|
|
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)
|
rs2061297833
|
|
|
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)
|
rs755069935
|
|
|
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)
|
rs1157058742
|
|
|
NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
|
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)
|
rs1555572446
|
|
|
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)
|
rs878855156
|
|
|
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
|
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)
|
rs2061296981
|
|
|
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)
|
rs1567727245
|
|
|
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)
|
rs1060501771
|
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)
|
rs1192747697
|
|
|
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)
|
rs1603274664
|
|
|
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)
|
rs587781886
|
|
|
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn)
|
rs2145826085
|
|
|
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)
|
rs1491231712
|
|
|
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)
|
rs761468878
|
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
|
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)
|
rs1555572407
|
|
|
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)
|
rs753516000
|
|
|
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>G (p.Pro1246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
|
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)
|
rs2144065748
|
|
|
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)
|
rs1567727102
|
|
|
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)
|
rs2061295225
|
|
|
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)
|
rs1555572410
|
|
|
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu)
|
rs1603274602
|
|
|
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.378A>G (p.Gln126=)
|
rs2145825894
|
|
|
NM_032043.3(BRIP1):c.379+5T>A
|
rs1603366174
|
|
|
NM_032043.3(BRIP1):c.37G>A (p.Val13Met)
|
rs1488264110
|
|
|
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
|
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
|
NM_032043.3(BRIP1):c.380-18T>A
|
|
|
|
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe)
|
rs1603362723
|
|
|
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)
|
rs1555616229
|
|
|
NM_032043.3(BRIP1):c.386C>A (p.Pro129His)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
|
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg)
|
rs2078781626
|
|
|
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)
|
rs2078781577
|
|
|
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
|
|
|
|
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
|
|
|
|
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
|
|
|
|
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala)
|
rs764256720
|
|
|
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
|
|
|
|
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
|
|
|
|
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
|
|
|
|
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val)
|
rs1295736478
|
|
|
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
|
|
|
|
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)
|
rs878855157
|
|
|
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe)
|
rs1567868653
|
|
|
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr)
|
rs2078780535
|
|
|
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn)
|
rs1603362663
|
|
|
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
|
|
|
|
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
|
|
|
|
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
|
|
|
|
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu)
|
rs1555616182
|
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
|
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
|
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val)
|
rs1567878177
|
|
|
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys)
|
rs1243511600
|
|
|
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
|
|
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
|
|
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
|
|
|
|
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser)
|
rs1555616165
|
|
|
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
|
|
|
|
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly)
|
rs2145763474
|
|
|
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
|
|
|
|
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
|
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)
|
rs1567868429
|
|
|
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg)
|
rs769364081
|
|
|
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg)
|
rs1603362575
|
|
|
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn)
|
rs2078778020
|
|
|
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
|
|
|
|
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile)
|
rs1330277587
|
|
|
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val)
|
rs786203916
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.488C>A (p.Pro163His)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp)
|
rs780024960
|
|
|
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)
|
rs1060501738
|
|
|
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu)
|
rs1603368465
|
|
|
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
|
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro)
|
rs2078776978
|
|
|
NM_032043.3(BRIP1):c.507+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.507+6C>T
|
rs2078776834
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val)
|
rs1603361718
|
|
|
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
|
|
|
|
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro)
|
rs761432927
|
|
|
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr)
|
rs776248182
|
|
|
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr)
|
rs2145744852
|
|
|
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val)
|
rs746963627
|
|
|
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys)
|
rs2078748560
|
|
|
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg)
|
rs2078748501
|
|
|
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser)
|
rs1555618724
|
|
|
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu)
|
rs2078748443
|
|
|
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
|
|
|
|
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup)
|
rs1567866837
|
|
|
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile)
|
rs1603361670
|
|
|
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
|
|
|
|
NM_032043.3(BRIP1):c.542A>G (p.His181Arg)
|
rs2078748128
|
|
|
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
|
|
|
|
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
|
|
|
|
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser)
|
rs2145744130
|
|
|
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)
|
rs201047375
|
|
|
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln)
|
rs730881624
|
|
|
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe)
|
rs876659064
|
|
|
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala)
|
rs2078747614
|
|
|
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
|
|
|
|
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg)
|
rs748268716
|
|
|
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro)
|
rs2078747261
|
|
|
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn)
|
rs1429063662
|
|
|
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
|
|
|
|
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
|
|
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
|
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_032043.3(BRIP1):c.597G>A (p.Leu199=)
|
rs2078746387
|
|
|
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys)
|
rs2078746295
|
|
|
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly)
|
rs1555615732
|
|
|
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe)
|
rs751194347
|
|
|
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg)
|
rs1555615729
|
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser)
|
rs2078745913
|
|
|
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)
|
rs761401027
|
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
|
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu)
|
rs2145741807
|
|
|
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu)
|
rs2078745221
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
|
NM_032043.3(BRIP1):c.627+3A>G
|
rs777434654
|
|
|
NM_032043.3(BRIP1):c.627+6T>C
|
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
|
NM_032043.3(BRIP1):c.628-2dup
|
|
|
|
NM_032043.3(BRIP1):c.628-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser)
|
rs2078117905
|
|
|
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu)
|
rs780026145
|
|
|
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.638A>C (p.His213Pro)
|
rs376760085
|
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
|
|
|
|
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly)
|
rs2078116990
|
|
|
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
|
|
|
|
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser)
|
rs2145422887
|
|
|
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn)
|
rs876659008
|
|
|
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
|
|
|
|
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del)
|
rs1555609353
|
|
|
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
|
|
|
|
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr)
|
rs587782238
|
|
|
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro)
|
rs1555609351
|
|
|
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
|
|
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
|
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
|
|
|
|
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg)
|
rs1567838486
|
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
|
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn)
|
rs2078115717
|
|
|
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
|
|
|
|
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp)
|
rs876659909
|
|
|
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)
|
rs2145421239
|
|
|
NM_032043.3(BRIP1):c.686C>T (p.Ser229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro)
|
rs2145421148
|
|
|
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro)
|
rs2078115132
|
|
|
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser)
|
rs762781085
|
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
|
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
|
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.701A>G (p.Lys234Arg)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.706G>C (p.Asp236His)
|
rs1555609300
|
|
|
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val)
|
rs1567838306
|
|
|
NM_032043.3(BRIP1):c.710A>G (p.His237Arg)
|
rs1567838288
|
|
|
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala)
|
rs1490001091
|
|
|
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu)
|
rs1567878087
|
|
|
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
|
|
|
|
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)
|
rs876660647
|
|
|
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
|
|
|
|
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
|
|
|
|
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu)
|
rs2078113517
|
|
|
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
|
|
|
|
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del)
|
rs1603346861
|
|
|
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg)
|
rs2145419213
|
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
|
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
|
|
|
|
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg)
|
rs2145864048
|
|
|
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser)
|
rs2078112912
|
|
|
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu)
|
rs2078112856
|
|
|
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser)
|
rs2078112756
|
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro)
|
rs780834054
|
|
|
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
|
|
|
|
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala)
|
rs1567838131
|
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
|
NM_032043.3(BRIP1):c.757C>G (p.His253Asp)
|
rs2078112338
|
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
|
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
|
|
|
|
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg)
|
rs2145417925
|
|
|
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val)
|
rs2145417649
|
|
|
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)
|
rs754515912
|
|
|
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
|
rs1603346813
|
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
|
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro)
|
rs1567838078
|
|
|
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val)
|
rs2145417254
|
|
|
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
|
|
|
|
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly)
|
rs2078111313
|
|
|
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser)
|
rs1441703380
|
|
|
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys)
|
rs2145416868
|
|
|
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)
|
rs876658283
|
|
|
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
|
|
|
|
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val)
|
rs1060501776
|
|
|
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
|
|
|
|
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly)
|
rs28997569
|
|
|
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly)
|
rs876659650
|
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
|
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val)
|
rs730881631
|
|
|
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys)
|
rs2078110465
|
|
|
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro)
|
rs2078110345
|
|
|
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu)
|
rs1412610651
|
|
|
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg)
|
rs1401241698
|
|
|
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
|
|
|
|
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.817A>G (p.Met273Val)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.819G>T (p.Met273Ile)
|
rs2145415194
|
|
|
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del)
|
rs2145414960
|
|
|
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
|
|
|
|
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe)
|
rs587781425
|
|
|
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
|
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
|
|
|
|
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr)
|
rs2078109366
|
|
|
NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly)
|
rs1555609193
|
|
|
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
|
|
|
|
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys)
|
rs786202674
|
|
|
NM_032043.3(BRIP1):c.841C>A (p.His281Asn)
|
rs1064795442
|
|
|
NM_032043.3(BRIP1):c.842A>C (p.His281Pro)
|
rs1603346710
|
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
|
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile)
|
rs45624635
|
|
|
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
|
|
|
|
NM_032043.3(BRIP1):c.854A>C (p.His285Pro)
|
rs141055990
|
|
|
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser)
|
rs770289817
|
|
|
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg)
|
rs2078108519
|
|
|
NM_032043.3(BRIP1):c.85A>G (p.Met29Val)
|
rs2078971287
|
|
|
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp)
|
rs1603346684
|
|
|
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala)
|
rs1375475281
|
|
|
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly)
|
rs2078108215
|
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
|
|
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala)
|
rs148556781
|
|
|
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)
|
rs769585673
|
|
|
NM_032043.3(BRIP1):c.885T>G (p.Asn295Lys)
|
|
|
|
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys)
|
rs876660125
|
|
|
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala)
|
rs878855158
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
|
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln)
|
rs876658528
|
|
|
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
|
|
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
|
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
|
|
|
|
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg)
|
rs1555609145
|
|
|
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
|
|
|
|
NM_032043.3(BRIP1):c.894C>T (p.Cys298=)
|
rs2078107086
|
|
|
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
|
|
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
|
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr)
|
rs2078106961
|
|
|
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)
|
rs137852985
|
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
|
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
|
|
|
|
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser)
|
rs750376292
|
|
|
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr)
|
rs2145410870
|
|
|
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly)
|
rs1555609130
|
|
|
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg)
|
rs1567837588
|
|
|
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu)
|
rs1459305482
|
|
|
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
|
|
|
|
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)
|
rs1567837564
|
|
|
NM_032043.3(BRIP1):c.918+5G>A
|
rs2078106072
|
|
|
NM_032043.3(BRIP1):c.919-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.919-3T>C
|
rs2077994124
|
|
|
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929_931del (p.Cys310del)
|
rs2145342477
|
|
|
NM_032043.3(BRIP1):c.93+2dup
|
rs786202125
|
|
|
NM_032043.3(BRIP1):c.93+3A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
|
NM_032043.3(BRIP1):c.93+6T>C
|
rs2078970954
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His)
|
rs1603343412
|
|
|
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe)
|
rs587782731
|
|
|
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile)
|
rs2145342258
|
|
|
NM_032043.3(BRIP1):c.93T>C (p.Ser31=)
|
rs1555618697
|
|
|
NM_032043.3(BRIP1):c.94-5C>G
|
rs2078952191
|
|
|
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.941A>G (p.His314Arg)
|
rs112076926
|
|
|
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
|
|
|
|
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe)
|
rs776386693
|
|
|
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg)
|
rs2077992906
|
|
|
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly)
|
rs2145341128
|
|
|
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
|
|
|
|
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly)
|
rs2077992652
|
|
|
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg)
|
rs1567832102
|
|
|
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr)
|
rs2077992477
|
|
|
NM_032043.3(BRIP1):c.969C>A (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
|
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu)
|
rs1555607768
|
|
|
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg)
|
rs1064794046
|
|
|
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
|
|
|
|
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile)
|
rs2145339793
|
|
|
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
|
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg)
|
rs778863018
|
|
|
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
|
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
|
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr)
|
rs876660521
|
|
|
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu)
|
rs757196702
|
|
|
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg)
|
rs2145338700
|
|
|
NM_032229.3(SLITRK6):c.1915dup (p.Tyr639fs)
|
rs869312872
|
|
|
NM_032236.8(USP48):c.1243A>G (p.Met415Val)
|
rs193921025
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.4423A>G (p.Thr1475Ala)
|
rs1596519823
|
|
|
NM_032511.4(FAXC):c.892C>G (p.Gln298Glu)
|
rs193921041
|
|
|
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser)
|
rs2068625752
|
|
|
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
|
|
|
|
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn)
|
rs779797858
|
|
|
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys)
|
rs758517602
|
|
|
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
|
|
|
|
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu)
|
rs1429596189
|
|
|
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
|
|
|
|
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
|
|
|
|
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
|
|
|
|
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
|
|
|
|
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
|
rs2068698528
|
|
|
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser)
|
rs2068696200
|
|
|
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser)
|
rs751621459
|
|
|
NM_032638.5(GATA2):c.494A>T (p.His165Leu)
|
rs1559987389
|
|
|
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
|
rs1373180685
|
|
|
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser)
|
rs1576748685
|
|
|
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
|
|
|
|
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
|
|
|
|
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)
|
rs373477245
|
|
|
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser)
|
rs1172590651
|
|
|
NM_032638.5(GATA2):c.706A>G (p.Met236Val)
|
rs746737860
|
|
|
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser)
|
rs78245253
|
|
|
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
|
|
|
|
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn)
|
rs2068685897
|
|
|
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
|
|
|
|
NM_032782.5(HAVCR2):c.523-1G>A
|
|
|
|
NM_032854.4(CORO6):c.1348G>A (p.Val450Met)
|
rs772136445
|
|
|
NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val)
|
rs193921026
|
|
|
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile)
|
rs1559309649
|
|
|
NM_033116.6(NEK9):c.1756dup (p.Thr586fs)
|
rs193920844
|
|
|
NM_033238.3(PML):c.2264G>C (p.Arg755Pro)
|
rs780746013
|
|
|
NM_033255.5(EPSTI1):c.350C>T (p.Thr117Ile)
|
rs864622031
|
|
|
NM_033257.4(DGCR6L):c.608C>T (p.Pro203Leu)
|
rs193920891
|
|
|
NM_033274.5(ADAM19):c.1130+67G>T
|
|
|
|
NM_033274.5(ADAM19):c.180+659A>C
|
|
|
|
NM_033274.5(ADAM19):c.251+324T>G
|
|
|
|
NM_033274.5(ADAM19):c.252-190C>A
|
|
|
|
NM_033274.5(ADAM19):c.252-193T>G
|
|
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
|
NM_033360.4(KRAS):c.-11delG
|
|
|
|
NM_033439.4(IL33):c.712G>A (p.Val238Met)
|
rs193920852
|
|
|
NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)
|
rs193920840
|
|
|
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu)
|
rs193921083
|
|
|
NM_057157.2:c.1184T>C
|
|
|
|
NM_058192.3(RPUSD1):c.521A>G (p.His174Arg)
|
rs193920771
|
|
|
NM_058195.4(CDKN2A):c.194-3838A>G
|
rs1819982421
|
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
|
NM_058216.3(RAD51C):c.180T>C (p.Thr60=)
|
rs755092293
|
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
|
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)
|
rs1555593767
|
|
|
NM_058216.3(RAD51C):c.475G>A (p.Asp159Asn)
|
rs775213492
|
|
|
NM_058216.3(RAD51C):c.619C>T (p.His207Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.696A>G (p.Glu232=)
|
rs786201177
|
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
|
NM_058216.3(RAD51C):c.81G>A (p.Leu27=)
|
rs1311969744
|
|
|
NM_080817.5(GPR82):c.482G>T (p.Gly161Val)
|
rs193921104
|
|
|
NM_138391.6(TMEM183A):c.708+1G>A
|
rs193920903
|
|
|
NM_138476.4(MDP1):c.400C>G (p.Leu134Val)
|
rs193921062
|
|
|
NM_138554.5(TLR4):c.*4092C>T
|
|
|
|
NM_138554.5(TLR4):c.1431A>T (p.Lys477Asn)
|
|
|
|
NM_138554.5(TLR4):c.6G>T (p.Met2Ile)
|
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
|
NM_138982.4(MAPK10):c.1271G>A (p.Ser424Asn)
|
rs193921096
|
|
|
NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)
|
|
|
|
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
|
rs1555564365
|
|
|
NM_144587.5(BTBD16):c.82C>T (p.Pro28Ser)
|
rs193920863
|
|
|
NM_144689.5(ZNF420):c.362A>G (p.Asn121Ser)
|
rs771433810
|
|
|
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)
|
rs752337482
|
|
|
NM_144997.7(FLCN):c.10A>G (p.Ile4Val)
|
rs1555611575
|
|
|
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)
|
rs199889477
|
|
|
NM_144997.7(FLCN):c.1285C>G (p.His429Asp)
|
rs375082054
|
|
|
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)
|
rs375082054
|
|
|
NM_144997.7(FLCN):c.1300+4C>T
|
rs1207963576
|
|
|
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu)
|
rs772207015
|
|
|
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)
|
rs750104212
|
|
|
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)
|
rs556510460
|
|
|
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)
|
rs2046880742
|
|
|
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)
|
rs750535468
|
|
|
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe)
|
rs1360467783
|
|
|
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)
|
rs2046824022
|
|
|
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)
|
rs201056799
|
|
|
NM_144997.7(FLCN):c.1715C>A (p.Pro572His)
|
rs1567804824
|
|
|
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)
|
rs1048214486
|
|
|
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
|
rs587778365
|
|
|
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)
|
rs1567822604
|
|
|
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)
|
rs1229735191
|
|
|
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)
|
rs878855219
|
|
|
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1])
|
rs1209487287
|
|
|
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu)
|
rs1026067642
|
|
|
NM_144997.7(FLCN):c.798C>T (p.Gly266=)
|
rs2047092959
|
|
|
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)
|
rs779449668
|
|
|
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)
|
rs748031634
|
|
|
NM_145263.4(SPATA18):c.991G>A (p.Val331Ile)
|
rs193921037
|
|
|
NM_147164.3(CNTFR):c.700G>C (p.Asp234His)
|
rs193920748
|
|
|
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
|
rs371430235
|
|
|
NM_152453.4(TMCO5A):c.645G>C (p.Lys215Asn)
|
rs193920912
|
|
|
NM_152476.3(ZNF560):c.1096C>A (p.His366Asn)
|
rs193920939
|
|
|
NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)
|
rs869025238
|
|
|
NM_152744.4(SDK1):c.5214+8C>T
|
rs193920905
|
|
|
NM_152753.4(SCUBE3):c.2462C>T (p.Pro821Leu)
|
rs193920941
|
|
|
NM_152868.3(KCNJ4):c.586C>T (p.Arg196Cys)
|
rs193920820
|
|
|
NM_152890.7(COL24A1):c.2341C>T (p.Gln781Ter)
|
rs774125436
|
|
|
NM_153267.5(MAMDC2):c.58G>A (p.Asp20Asn)
|
rs193920950
|
|
|
NM_153442.4(GPR26):c.71C>T (p.Ala24Val)
|
rs193920957
|
|
|
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)
|
rs864309493
|
|
|
NM_153703.5(PODN):c.1060G>T (p.Ala354Ser)
|
rs193920794
|
|
|
NM_153766.3(KCNJ1):c.1094A>T (p.Asn365Ile)
|
rs193920958
|
|
|
NM_170692.4(RASAL2):c.3820G>T (p.Glu1274Ter)
|
rs193921085
|
|
|
NM_173079.5(RUNDC1):c.866G>C (p.Gly289Ala)
|
rs864622034
|
|
|
NM_173517.6(VKORC1L1):c.493G>T (p.Glu165Ter)
|
rs193921078
|
|
|
NM_173531.4(ZNF100):c.407del (p.Gly136fs)
|
rs193921016
|
|
|
NM_173536.4(GABRG1):c.32C>T (p.Pro11Leu)
|
rs193920916
|
|
|
NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp)
|
rs193920965
|
|
|
NM_173558.4(FGD2):c.882+3A>C
|
rs193921018
|
|
|
NM_173632.4(ZNF776):c.574A>C (p.Asn192His)
|
rs193921007
|
|
|
NM_175709.5(CBX7):c.227C>G (p.Pro76Arg)
|
rs193920857
|
|
|
NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg)
|
rs869025233
|
|
|
NM_177438.3(DICER1):c.*1448del
|
rs35463377
|
|
|
NM_177438.3(DICER1):c.*1449_*1450insT
|
rs886050934
|
|
|
NM_177438.3(DICER1):c.*2964del
|
rs537009606
|
|
|
NM_177438.3(DICER1):c.*326del
|
rs35649919
|
|
|
NM_177438.3(DICER1):c.1908-138_2804+645del
|
|
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
|
NM_177438.3(DICER1):c.2069C>A (p.Ala690Asp)
|
rs2140077900
|
|
|
NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp)
|
rs1555371628
|
|
|
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu)
|
rs1595391071
|
|
|
NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu)
|
rs1060503613
|
|
|
NM_177438.3(DICER1):c.3094-8_3094-5del
|
rs770904411
|
|
|
NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
|
|
|
|
NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr)
|
rs761578934
|
|
|
NM_177438.3(DICER1):c.4206+9_4206+21delinsT
|
rs886050941
|
|
|
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile)
|
rs1488281692
|
|
|
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)
|
rs749900564
|
|
|
NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
|
|
|
|
NM_177438.3(DICER1):c.625A>G (p.Ile209Val)
|
rs2140260977
|
|
|
NM_177438.3(DICER1):c.968G>T (p.Gly323Val)
|
rs906299601
|
|
|
NM_178150.3(FBH1):c.2107C>T (p.Arg703Trp)
|
rs193921138
|
|
|
NM_178556.5(TRIML1):c.1188A>T (p.Lys396Asn)
|
rs193920871
|
|
|
NM_181523.3(PIK3R1):c.1939C>A (p.Leu647Ile)
|
rs193921079
|
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
|
NM_181785.4(SLC46A3):c.1189G>A (p.Val397Ile)
|
rs193920747
|
|
|
NM_181877.4(ZSCAN2):c.1255C>A (p.Gln419Lys)
|
rs193921069
|
|
|
NM_182643.3(DLC1):c.2753G>C (p.Arg918Pro)
|
rs779524261
|
|
|
NM_182925.5(FLT4):c.2407-6C>G
|
rs796052107
|
|
|
NM_182925.5(FLT4):c.2407-7C>T
|
rs796052108
|
|
|
NM_182925.5(FLT4):c.2414A>C (p.His805Pro)
|
rs796052106
|
|
|
NM_182925.5(FLT4):c.2433C>A (p.Gly811=)
|
rs796052105
|
|
|
NM_182925.5(FLT4):c.2470C>A (p.Leu824Met)
|
rs796052104
|
|
|
NM_182925.5(FLT4):c.2496C>G (p.Ser832=)
|
rs796052103
|
|
|
NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser)
|
rs796052102
|
|
|
NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu)
|
rs796052101
|
|
|
NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn)
|
rs796052100
|
|
|
NM_182925.5(FLT4):c.2519del (p.Phe840fs)
|
rs796052099
|
|
|
NM_182925.5(FLT4):c.2542+12A>G
|
rs751737827
|
|
|
NM_182925.5(FLT4):c.2542+18del
|
rs796052098
|
|
|
NM_182925.5(FLT4):c.2542+20del
|
rs796052097
|
|
|
NM_182925.5(FLT4):c.2647+31del
|
rs796052109
|
|
|
NM_182925.5(FLT4):c.3002-9A>C
|
rs796052114
|
|
|
NM_182925.5(FLT4):c.3056del (p.Phe1019fs)
|
rs796052113
|
|
|
NM_182925.5(FLT4):c.3064del (p.Ala1022fs)
|
rs796052112
|
|
|
NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val)
|
rs56364366
|
|
|
NM_182925.5(FLT4):c.3072del (p.Met1025fs)
|
rs796052111
|
|
|
NM_182925.5(FLT4):c.3076del (p.Glu1026fs)
|
rs796052110
|
|
|
NM_182947.4(ARHGEF25):c.657-7C>A
|
rs193921117
|
|
|
NM_183377.2(ASIC2):c.1129C>A (p.His377Asn)
|
rs193921140
|
|
|
NM_194302.4(CFAP65):c.542+58del
|
rs193920770
|
|
|
NM_198148.3(CPXM2):c.497G>A (p.Gly166Glu)
|
rs869025241
|
|
|
NM_198215.4(FAM13C):c.1427T>A (p.Leu476His)
|
rs193920897
|
|
|
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)
|
rs1751166833
|
|
|
NM_198253.3(TERT):c.124G>C (p.Gly42Arg)
|
rs1751293669
|
|
|
NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
|
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
|
NM_198253.3(TERT):c.2221G>A (p.Val741Met)
|
rs150819225
|
|
|
NM_198253.3(TERT):c.578C>T (p.Pro193Leu)
|
rs751762765
|
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
|
NM_198253.3(TERT):c.847A>C (p.Thr283Pro)
|
rs1295657479
|
|
|
NM_198253.3(TERT):c.902G>A (p.Arg301His)
|
rs1268051204
|
|
|
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
|
|
|
|
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
|
|
|
|
NM_198437.3(AURKA):c.1085G>T (p.Arg362Ile)
|
|
|
|
NM_198512.3(DGAT2L6):c.769C>A (p.Leu257Met)
|
rs193921067
|
|
|
NM_198569.3(ADGRG6):c.2127+438T>C
|
|
|
|
NM_198569.3(ADGRG6):c.2541+173_2541+175inv
|
|
|
|
NM_198569.3(ADGRG6):c.2541+185_2541+187delinsTCT
|
|
|
|
NM_199191.3(BABAM2):c.626A>G (p.Asp209Gly)
|
rs193920803
|
|
|
NM_199340.5(LRRC37A3):c.3859del (p.Ala1287fs)
|
rs193920919
|
|
|
NM_203416.4(CD163):c.1100-317C>A
|
|
|
|
NM_203416.4(CD163):c.3344-144C>G
|
|
|
|
NM_203416.4(CD163):c.45T>A (p.Ala15=)
|
|
|
|
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
|
|
NM_203500.2(KEAP1):c.700C>T (p.Arg234Trp)
|
rs1599484704
|
|
|
NM_206933.4(USH2A):c.5837G>T (p.Arg1946Leu)
|
rs193921072
|
|
|
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)
|
rs1878367870
|
|
|
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys)
|
rs200756045
|
|
|
NM_207117.4(SLC25A47):c.56C>T (p.Pro19Leu)
|
rs193920797
|
|
|
NM_207517.3(ADAMTSL3):c.1700+350A>T
|
|
|
|
NM_207517.3(ADAMTSL3):c.2490+207A>C
|
|
|
|
NM_207517.3(ADAMTSL3):c.2490+210C>G
|
|
|
|
NM_207517.3(ADAMTSL3):c.318-243T>C
|
|
|
|
NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)
|
|
|
|
NM_213589.3(RAPH1):c.1123G>T (p.Glu375Ter)
|
rs193920935
|
|
|
NR_046414.2(RB1-DT):n.12G>T
|
|
|
|
NR_046414.2(RB1-DT):n.13C>G
|
|
|
|
NR_046414.2(RB1-DT):n.18G>C
|
|
|
|
NR_046414.2(RB1-DT):n.19_20delinsTT
|
|
|
|
NR_046414.2(RB1-DT):n.24G>C
|
|
|
|
NR_046414.2(RB1-DT):n.25C>T
|
|
|
|
NR_149149.2(NPM1):n.858_859del
|
rs2113301411
|
|
|
Single allele
|
|
|
|
TSG101, VAL-ALA, 1162T-C
|
|
|
|
chr11:1092954..1857751 complex variant
|
|
|
|
chr12:10074776-18800953 complex variant
|
|
|
|
chr12:4920767-5603935 complex variant
|
|
|
|
chr14:104643721..105932775 complex variant
|
|
|
|
chr17:45008570..45994044 complex variant
|
|
|
|
chr19:19230868-24115369 complex variant
|
|
|
|
chr19:36674305-38652962 complex variant
|
|
|
|
chr19:44501518-45322744 complex variant
|
|
|
|
chr19:54754752-55624113 complex variant
|
|
|
|
chr19:55143156-55294969 complex variant
|
|
|
|
chr19:56133299..57648277 complex variant
|
|
|
|
chr1:16902894-17264939 complex variant
|
|
|
|
chr1:17555508-24706269 complex variant
|
|
|
|
chr1:248525146-248525657 complex variant
|
|
|
|
chr1:909238-16736132 complex variant
|
|
|
|
chr20:60885242-61929348 complex variant
|
|
|
|
chr20:61880169-61908597 complex variant
|
|
|
|
chr21:45970718..47545826 complex variant
|
|
|
|
chr2:130949553-130952725 complex variant
|
|
|
|
chr4:88537276..88537405 complex variant
|
|
|
|
chr6:29910378..30075843 complex variant
|
|
|
|
chr6:29910602..29912297 complex variant
|
|
|
|
chr6:31237124-31378388 complex variant
|
|
|
|
chr6:32609097-32629809 complex variant
|
|
|
|
chr9:21187003-21228040 complex variant
|
|
|
|
inv(2)(p23.1p23.2)
|
|
|
|
inv(9)(p12q21.33)
|
|
|
|
t(10;19)(q26.13;q13.43)
|
|
|
|
t(12;16)(q13.13;p11.2)
|
|
|
|
t(17;19)(q25.1;p13.3)
|
|
|
|
t(2;15)(q23.1;q25.3)
|
|
|