NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)
|
rs368806050
|
0.00051
|
NM_001166108.2(PALLD):c.1965-12924C>T
|
rs1048547337
|
0.00032
|
NM_001166108.2(PALLD):c.1965-12812C>A
|
rs532961259
|
0.00027
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu)
|
rs140360991
|
0.00019
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
NM_001166108.2(PALLD):c.1965-12907G>A
|
rs780516159
|
0.00013
|
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr)
|
rs182571219
|
0.00012
|
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser)
|
rs150764613
|
0.00011
|
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_001166108.2(PALLD):c.1966G>A (p.Gly656Arg)
|
rs149631023
|
0.00009
|
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys)
|
rs374741161
|
0.00009
|
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_001166108.2(PALLD):c.2749G>A (p.Glu917Lys)
|
rs372708613
|
0.00008
|
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_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_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
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_001166108.2(PALLD):c.*108C>T
|
rs863224704
|
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_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
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_001166108.2(PALLD):c.2645G>A (p.Arg882Gln)
|
rs780692056
|
0.00005
|
NM_004360.5(CDH1):c.2363C>T (p.Ala788Val)
|
rs139096339
|
0.00005
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
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.3118T>C (p.Ser1040Pro)
|
rs771328219
|
0.00004
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
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_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_004360.4(CDH1):c.-288del
|
rs5030658
|
0.00004
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
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.2249A>G (p.Asp750Gly)
|
rs759608783
|
0.00004
|
NM_004360.5(CDH1):c.2348C>T (p.Thr783Ile)
|
rs876658467
|
0.00004
|
NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)
|
rs772173832
|
0.00004
|
NM_004360.5(CDH1):c.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
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.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_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_004360.5(CDH1):c.1318A>G (p.Lys440Glu)
|
rs778212100
|
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.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.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.2350C>T (p.Arg784Cys)
|
rs775922721
|
0.00003
|
NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp)
|
rs777363517
|
0.00003
|
NM_004360.5(CDH1):c.61C>G (p.Leu21Val)
|
rs863224729
|
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_000245.4(MET):c.1027T>C (p.Phe343Leu)
|
rs774022115
|
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.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.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_001166108.2(PALLD):c.*153A>G
|
rs535118290
|
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_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.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.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.1697T>C (p.Ile566Thr)
|
rs763292288
|
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.2098C>A (p.Pro700Thr)
|
rs878854681
|
0.00002
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
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.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.276T>G (p.His92Gln)
|
rs770967343
|
0.00002
|
NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)
|
rs587782023
|
0.00002
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
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.845T>C (p.Met282Thr)
|
rs730881652
|
0.00002
|
NM_004360.5(CDH1):c.866C>T (p.Ala289Val)
|
rs780399325
|
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.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
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.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.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.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.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_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.*185G>T
|
rs1032243256
|
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.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.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_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.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
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.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.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.1790C>G (p.Pro597Arg)
|
rs1961161092
|
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.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.2033T>C (p.Val678Ala)
|
rs876659352
|
0.00001
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
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.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.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.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.2320A>G (p.Arg774Gly)
|
rs753540183
|
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.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.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.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.48G>T (p.Gln16His)
|
rs749591910
|
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.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.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_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.1255A>G (p.Ile419Val)
|
rs1198867364
|
0.00001
|
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr)
|
rs1553291414
|
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
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_193091321)_(193219852_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193099383_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193111206_?)dup
|
|
|
NC_000001.10:g.(?_193094232)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193110960)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193110974)_(193219848_?)dup
|
|
|
NC_000001.10:g.(?_193172905)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172915)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193223945_?)dup
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193218850)_(193219852_?)dup
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)dup
|
|
|
NC_000001.11:g.(?_193141840)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193147857)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193203785)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193249724)_(193250718_?)del
|
|
|
NC_000004.11:g.(?_169799043)_(169847536_?)del
|
|
|
NC_000004.11:g.(?_169815658)_(169819885_?)del
|
|
|
NC_000004.12:g.(?_168877882)_(168926395_?)dup
|
|
|
NC_000004.12:g.(?_168877892)_(168926385_?)dup
|
|
|
NC_000007.13:g.(?_116165117)_(116340358_?)dup
|
|
|
NC_000007.13:g.(?_116339129)_(116340348_?)dup
|
|
|
NC_000007.13:g.(?_116339129)_(117144427_?)dup
|
|
|
NC_000007.13:g.(?_116339133)_(116399550_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(116340358_?)del
|
|
|
NC_000007.13:g.(?_116339139)_(116381089_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(116411718_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(116436178_?)del
|
|
|
NC_000007.13:g.(?_116339139)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(117307162_?)del
|
|
|
NC_000007.13:g.(?_116371712)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116380896)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116380902)_(116403184_?)del
|
|
|
NC_000007.13:g.(?_116380991)_(116385169_?)del
|
|
|
NC_000007.13:g.(?_116395399)_(116395579_?)dup
|
|
|
NC_000007.13:g.(?_116417433)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116435699)_(116436178_?)dup
|
|
|
NC_000007.13:g.116166573-?_116436183+?dup
|
|
|
NC_000007.14:g.(?_116699075)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116699075)_(117667118_?)del
|
|
|
NC_000007.14:g.(?_116699085)_(116700294_?)dup
|
|
|
NC_000007.14:g.(?_116740842)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116740846)_(116741031_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68833499_?)dup
|
|
|
NC_000016.9:g.(?_68679283)_(68857549_?)dup
|
|
|
NC_000016.9:g.(?_68710268)_(68849682_?)dup
|
|
|
NC_000016.9:g.(?_68771309)_(68772324_?)dup
|
|
|
NC_000016.9:g.(?_68771309)_(68867412_?)dup
|
|
|
NC_000016.9:g.(?_68771313)_(68772320_?)dup
|
|
|
NC_000016.9:g.(?_68771319)_(68772334_?)dup
|
|
|
NC_000016.9:g.(?_68771319)_(68867402_?)dup
|
|
|
NC_000016.9:g.(?_68835559)_(68867794_?)dup
|
|
|
NC_000016.9:g.(?_68835563)_(68867412_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68867408_?)dup
|
|
|
NC_000016.9:g.(?_68842317)_(68867402_?)dup
|
|
|
NC_000016.9:g.(?_68862208)_(68865040_?)del
|
|
|
NC_000016.9:g.(?_68867183)_(68867402_?)dup
|
|
|
NC_000016.9:g.(?_68867187)_(68867408_?)dup
|
|
|
NM_000245.4(MET):c.-12_17del (p.Met1fs)
|
rs1562882716
|
|
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.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.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.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.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.1863A>G (p.Thr621=)
|
rs1794219866
|
|
NM_000245.4(MET):c.1865T>G (p.Leu622Trp)
|
rs1794220084
|
|
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+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.2265-18del
|
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.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+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.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.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.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.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>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.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.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_001127500.2(MET):c.(?_-1)_1200+?dup
|
|
|
NM_001127500.2(MET):c.1528-?_*2262dup4962
|
|
|
NM_001166108.2(PALLD):c.*155C>G
|
rs1560940853
|
|
NM_001166108.2(PALLD):c.*161C>T
|
rs1762577012
|
|
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.*33C>T
|
rs569054006
|
|
NM_001166108.2(PALLD):c.*37G>T
|
|
|
NM_001166108.2(PALLD):c.*40G>C
|
rs2126617157
|
|
NM_001166108.2(PALLD):c.*41C>T
|
rs2126617192
|
|
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.*93G>A
|
|
|
NM_001166108.2(PALLD):c.*96A>T
|
|
|
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_001166110.1(PALLD):c.640-?_960+?del
|
|
|
NM_004360.4(CDH1):c.-124-?_*2042+?dup4815
|
|
|
NM_004360.4(CDH1):c.164-?_*(1_?)dup
|
|
|
NM_004360.5(CDH1):c.*3del (p.Ter883=)
|
|
|
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+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.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.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.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.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+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.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.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>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.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.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.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.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+5G>C
|
rs1567508007
|
|
NM_004360.5(CDH1):c.1321-3T>C
|
|
|
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.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.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.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.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.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>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+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.1566-3C>G
|
rs113057579
|
|
NM_004360.5(CDH1):c.1566-3C>T
|
rs113057579
|
|
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.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.1626T>G (p.Ile542Met)
|
rs1961075798
|
|
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.164-8976_164-8973dup
|
|
|
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>T (p.Ser559Cys)
|
rs1555516566
|
|
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.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.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+6G>A
|
rs1555516597
|
|
NM_004360.5(CDH1):c.1711G>T (p.Gly571Cys)
|
|
|
NM_004360.5(CDH1):c.1712-2A>C
|
rs552325719
|
|
NM_004360.5(CDH1):c.1712-2A>T
|
rs552325719
|
|
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.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.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.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.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.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.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.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.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.1937-3C>T
|
|
|
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.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>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>T (p.Val683Phe)
|
rs758872535
|
|
NM_004360.5(CDH1):c.2051G>A (p.Ser684Asn)
|
|
|
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.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.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.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.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.2165-5C>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.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.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.2284G>A (p.Glu762Lys)
|
|
|
NM_004360.5(CDH1):c.2285A>T (p.Glu762Val)
|
|
|
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+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.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>C (p.Leu772Pro)
|
rs1596972390
|
|
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.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>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.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.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+4A>T
|
|
|
NM_004360.5(CDH1):c.2439+4_2439+5dup
|
rs1961435319
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004360.5(CDH1):c.2440-1G>T
|
rs1596976101
|
|
NM_004360.5(CDH1):c.2440-3T>C
|
|
|
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)
|
|
|
NM_004360.5(CDH1):c.244G>T (p.Val82Leu)
|
rs1064793867
|
|
NM_004360.5(CDH1):c.2450C>A (p.Ala817Glu)
|
|
|
NM_004360.5(CDH1):c.245T>A (p.Val82Glu)
|
rs942284129
|
|
NM_004360.5(CDH1):c.2464C>G (p.Pro822Ala)
|
rs876660086
|
|
NM_004360.5(CDH1):c.2465C>G (p.Pro822Arg)
|
rs1555518215
|
|
NM_004360.5(CDH1):c.2465C>T (p.Pro822Leu)
|
rs1555518215
|
|
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
|
NM_004360.5(CDH1):c.2468C>T (p.Thr823Ile)
|
rs1961533891
|
|
NM_004360.5(CDH1):c.2471C>A (p.Ala824Asp)
|
rs1450920019
|
|
NM_004360.5(CDH1):c.2471C>T (p.Ala824Val)
|
rs1450920019
|
|
NM_004360.5(CDH1):c.2476C>A (p.Pro826Thr)
|
|
|
NM_004360.5(CDH1):c.2476C>T (p.Pro826Ser)
|
rs1961534415
|
|
NM_004360.5(CDH1):c.247A>G (p.Ile83Val)
|
rs1960511548
|
|
NM_004360.5(CDH1):c.2480A>G (p.Tyr827Cys)
|
rs1555518224
|
|
NM_004360.5(CDH1):c.2486C>A (p.Ser829Tyr)
|
rs864622310
|
|
NM_004360.5(CDH1):c.2486C>T (p.Ser829Phe)
|
rs864622310
|
|
NM_004360.5(CDH1):c.2492T>G (p.Leu831Arg)
|
|
|
NM_004360.5(CDH1):c.2494G>T (p.Val832Leu)
|
rs35572355
|
|
NM_004360.5(CDH1):c.2497T>C (p.Phe833Leu)
|
rs863224728
|
|
NM_004360.5(CDH1):c.2500G>A (p.Asp834Asn)
|
rs1567517670
|
|
NM_004360.5(CDH1):c.2503T>C (p.Tyr835His)
|
rs1961536179
|
|
NM_004360.5(CDH1):c.2504A>G (p.Tyr835Cys)
|
rs1961536275
|
|
NM_004360.5(CDH1):c.2510G>A (p.Gly837Glu)
|
rs1961536737
|
|
NM_004360.5(CDH1):c.2513G>A (p.Ser838Asn)
|
|
|
NM_004360.5(CDH1):c.2514C>A (p.Ser838Arg)
|
rs770974998
|
|
NM_004360.5(CDH1):c.2514C>G (p.Ser838Arg)
|
rs770974998
|
|
NM_004360.5(CDH1):c.2515G>T (p.Gly839Cys)
|
rs587780121
|
|
NM_004360.5(CDH1):c.2516G>A (p.Gly839Asp)
|
rs1961537321
|
|
NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro)
|
rs1555518243
|
|
NM_004360.5(CDH1):c.251C>A (p.Thr84Lys)
|
|
|
NM_004360.5(CDH1):c.2521G>C (p.Glu841Gln)
|
rs377489352
|
|
NM_004360.5(CDH1):c.2522A>T (p.Glu841Val)
|
|
|
NM_004360.5(CDH1):c.2527G>A (p.Ala843Thr)
|
rs768350776
|
|
NM_004360.5(CDH1):c.2529_2530delinsAG (p.Ser844Gly)
|
rs1961538497
|
|
NM_004360.5(CDH1):c.2530A>C (p.Ser844Arg)
|
|
|
NM_004360.5(CDH1):c.2531G>C (p.Ser844Thr)
|
rs1247754103
|
|
NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile)
|
rs1247754103
|
|
NM_004360.5(CDH1):c.2534T>A (p.Leu845Gln)
|
|
|
NM_004360.5(CDH1):c.2539T>G (p.Ser847Ala)
|
rs1555518248
|
|
NM_004360.5(CDH1):c.253G>A (p.Val85Ile)
|
rs1555514427
|
|
NM_004360.5(CDH1):c.2540C>G (p.Ser847Cys)
|
rs1555518249
|
|
NM_004360.5(CDH1):c.2540C>T (p.Ser847Phe)
|
rs1555518249
|
|
NM_004360.5(CDH1):c.2546A>G (p.Asn849Ser)
|
rs1961539722
|
|
NM_004360.5(CDH1):c.2549C>T (p.Ser850Phe)
|
rs1337211551
|
|
NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)
|
rs2152144059
|
|
NM_004360.5(CDH1):c.2552C>G (p.Ser851Ter)
|
|
|
NM_004360.5(CDH1):c.2554G>A (p.Glu852Lys)
|
|
|
NM_004360.5(CDH1):c.2555A>G (p.Glu852Gly)
|
|
|
NM_004360.5(CDH1):c.2556G>T (p.Glu852Asp)
|
rs760315494
|
|
NM_004360.5(CDH1):c.2557T>C (p.Ser853Pro)
|
rs765978401
|
|
NM_004360.5(CDH1):c.2560G>C (p.Asp854His)
|
|
|
NM_004360.5(CDH1):c.2560G>T (p.Asp854Tyr)
|
|
|
NM_004360.5(CDH1):c.2561A>C (p.Asp854Ala)
|
rs1961541103
|
|
NM_004360.5(CDH1):c.2561A>T (p.Asp854Val)
|
rs1961541103
|
|
NM_004360.5(CDH1):c.2562C>A (p.Asp854Glu)
|
|
|
NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn)
|
rs2152144092
|
|
NM_004360.5(CDH1):c.2567A>C (p.Asp856Ala)
|
rs1567517789
|
|
NM_004360.5(CDH1):c.2568C>G (p.Asp856Glu)
|
rs1596976533
|
|
NM_004360.5(CDH1):c.2570A>G (p.Gln857Arg)
|
|
|
NM_004360.5(CDH1):c.2573A>G (p.Asp858Gly)
|
rs1961541678
|
|
NM_004360.5(CDH1):c.2574C>G (p.Asp858Glu)
|
rs1060501245
|
|
NM_004360.5(CDH1):c.2575T>C (p.Tyr859His)
|
rs1596976564
|
|
NM_004360.5(CDH1):c.2576A>G (p.Tyr859Cys)
|
rs1596976571
|
|
NM_004360.5(CDH1):c.2577T>A (p.Tyr859Ter)
|
rs765545887
|
|
NM_004360.5(CDH1):c.2578G>A (p.Asp860Asn)
|
rs1412506259
|
|
NM_004360.5(CDH1):c.2578G>C (p.Asp860His)
|
rs1412506259
|
|
NM_004360.5(CDH1):c.2581T>G (p.Tyr861Asp)
|
rs1185746867
|
|
NM_004360.5(CDH1):c.2582A>C (p.Tyr861Ser)
|
|
|
NM_004360.5(CDH1):c.2582A>G (p.Tyr861Cys)
|
rs1961542515
|
|
NM_004360.5(CDH1):c.2585T>G (p.Leu862Trp)
|
|
|
NM_004360.5(CDH1):c.2589C>A (p.Asn863Lys)
|
rs115817750
|
|
NM_004360.5(CDH1):c.2589C>G (p.Asn863Lys)
|
rs115817750
|
|
NM_004360.5(CDH1):c.258A>C (p.Lys86Asn)
|
|
|
NM_004360.5(CDH1):c.2590G>C (p.Glu864Gln)
|
rs142927667
|
|
NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)
|
rs1555518267
|
|
NM_004360.5(CDH1):c.2593T>G (p.Trp865Gly)
|
rs1555518267
|
|
NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)
|
rs1555518270
|
|
NM_004360.5(CDH1):c.2596G>A (p.Gly866Ser)
|
rs1060501230
|
|
NM_004360.5(CDH1):c.2597G>A (p.Gly866Asp)
|
rs1410318220
|
|
NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)
|
rs1410318220
|
|
NM_004360.5(CDH1):c.2599A>G (p.Asn867Asp)
|
|
|
NM_004360.5(CDH1):c.25T>G (p.Ser9Ala)
|
rs1555509645
|
|
NM_004360.5(CDH1):c.2600A>C (p.Asn867Thr)
|
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
NM_004360.5(CDH1):c.2602_2612del (p.Arg868fs)
|
rs2152144176
|
|
NM_004360.5(CDH1):c.260G>A (p.Arg87Lys)
|
rs1960512598
|
|
NM_004360.5(CDH1):c.2612A>C (p.Lys871Thr)
|
rs2152144190
|
|
NM_004360.5(CDH1):c.2613G>C (p.Lys871Asn)
|
rs2152144195
|
|
NM_004360.5(CDH1):c.2614C>G (p.Leu872Val)
|
rs749203461
|
|
NM_004360.5(CDH1):c.2617G>A (p.Ala873Thr)
|
|
|
NM_004360.5(CDH1):c.2618C>T (p.Ala873Val)
|
|
|
NM_004360.5(CDH1):c.2620G>C (p.Asp874His)
|
rs1555518283
|
|
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.2625G>A (p.Met875Ile)
|
rs1555518291
|
|
NM_004360.5(CDH1):c.2627A>T (p.Tyr876Phe)
|
|
|
NM_004360.5(CDH1):c.2629G>C (p.Gly877Arg)
|
|
|
NM_004360.5(CDH1):c.262C>A (p.Pro88Thr)
|
rs779313390
|
|
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
|
|
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.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.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.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[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.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.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.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.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.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.47A>G (p.Gln16Arg)
|
|
|
NM_004360.5(CDH1):c.47A>T (p.Gln16Leu)
|
rs775705607
|
|
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+6_48+7delinsTG
|
rs786200947
|
|
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.49-3C>A
|
rs587782366
|
|
NM_004360.5(CDH1):c.49-3C>G
|
|
|
NM_004360.5(CDH1):c.49-6C>G
|
|
|
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.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.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.532A>G (p.Ile178Val)
|
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
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.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.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.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.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.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.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.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>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
|
|
NM_004360.5(CDH1):c.968C>T (p.Thr323Ile)
|
rs1487750656
|
|
NM_004360.5(CDH1):c.971G>A (p.Gly324Glu)
|
rs1060501232
|
|
NM_004360.5(CDH1):c.971G>C (p.Gly324Ala)
|
rs1060501232
|
|
NM_004360.5(CDH1):c.973G>T (p.Val325Phe)
|
rs1597894244
|
|
NM_004360.5(CDH1):c.974T>C (p.Val325Ala)
|
rs2152132111
|
|
NM_004360.5(CDH1):c.976A>G (p.Ile326Val)
|
rs1567506764
|
|
NM_004360.5(CDH1):c.980G>A (p.Ser327Asn)
|
|
|
NM_004360.5(CDH1):c.980G>T (p.Ser327Ile)
|
rs587781778
|
|
NM_004360.5(CDH1):c.981T>G (p.Ser327Arg)
|
rs1567506772
|
|
NM_004360.5(CDH1):c.982G>A (p.Val328Met)
|
rs754228872
|
|
NM_004360.5(CDH1):c.983T>C (p.Val328Ala)
|
rs1597894276
|
|
NM_004360.5(CDH1):c.985G>T (p.Val329Phe)
|
rs1597894279
|
|
NM_004360.5(CDH1):c.989C>T (p.Thr330Ile)
|
rs755371143
|
|
NM_004360.5(CDH1):c.98A>T (p.Asp33Val)
|
rs1597838602
|
|
NM_004360.5(CDH1):c.991A>T (p.Thr331Ser)
|
rs1960843471
|
|
NM_004360.5(CDH1):c.992C>A (p.Thr331Asn)
|
rs1597894293
|
|
NM_004360.5(CDH1):c.994G>T (p.Gly332Trp)
|
rs587781759
|
|
NM_004360.5(CDH1):c.995G>C (p.Gly332Ala)
|
|
|
NM_004360.5(CDH1):c.995G>T (p.Gly332Val)
|
rs1597894308
|
|
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.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.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
|
|