NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)
|
rs4925828
|
0.98841
|
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)
|
rs2721190
|
0.98532
|
NM_004260.4(RECQL4):c.132A>G (p.Glu44=)
|
rs2306386
|
0.54741
|
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)
|
rs4244612
|
0.41942
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_004260.4(RECQL4):c.1258+18G>A
|
rs4251689
|
0.38613
|
NM_004260.4(RECQL4):c.3393+8C>T
|
rs756627
|
0.37589
|
NM_004260.4(RECQL4):c.1621-15C>T
|
rs4244611
|
0.37577
|
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)
|
rs4251691
|
0.36660
|
NM_004260.4(RECQL4):c.3502+24G>A
|
rs2279243
|
0.36505
|
NM_004260.4(RECQL4):c.738C>T (p.Ser246=)
|
rs4244613
|
0.36043
|
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu)
|
rs2721191
|
0.02663
|
NM_004260.4(RECQL4):c.1258+6A>T
|
rs34437789
|
0.02229
|
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)
|
rs35842750
|
0.02097
|
NM_004260.4(RECQL4):c.3393+9A>G
|
rs4251692
|
0.02095
|
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met)
|
rs34293591
|
0.01793
|
NM_004260.4(RECQL4):c.3480G>A (p.Val1160=)
|
rs34914400
|
0.01566
|
NM_004260.4(RECQL4):c.2464-17T>C
|
rs35066227
|
0.01552
|
NM_004260.4(RECQL4):c.274= (p.Ser92=)
|
rs2721190
|
0.01468
|
NM_004260.4(RECQL4):c.300C>T (p.Gly100=)
|
rs34496005
|
0.01171
|
NM_004260.4(RECQL4):c.3127= (p.Leu1043=)
|
rs4925828
|
0.01159
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=)
|
rs35215952
|
0.01004
|
NM_004260.4(RECQL4):c.1879-15C>A
|
rs35126141
|
0.00929
|
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His)
|
rs137975310
|
0.00913
|
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys)
|
rs35407712
|
0.00877
|
NM_004260.4(RECQL4):c.2463+7A>C
|
rs767159855
|
0.00691
|
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=)
|
rs34735741
|
0.00600
|
NM_004260.4(RECQL4):c.309G>A (p.Pro103=)
|
rs4251688
|
0.00564
|
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)
|
rs34948955
|
0.00557
|
NM_004260.4(RECQL4):c.195C>G (p.Leu65=)
|
rs369163654
|
0.00449
|
NM_004260.4(RECQL4):c.2755+16dup
|
rs35544622
|
0.00430
|
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)
|
rs144637135
|
0.00427
|
NM_004260.4(RECQL4):c.3503-20G>A
|
rs372780200
|
0.00422
|
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)
|
rs35348691
|
0.00390
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
NM_004260.4(RECQL4):c.543G>A (p.Gln181=)
|
rs34159914
|
0.00353
|
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)
|
rs35101495
|
0.00313
|
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser)
|
rs35098923
|
0.00307
|
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser)
|
rs34915097
|
0.00296
|
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met)
|
rs114149451
|
0.00287
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=)
|
rs201384843
|
0.00276
|
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys)
|
rs201369291
|
0.00274
|
NM_004260.4(RECQL4):c.2463+7del
|
rs760575376
|
0.00265
|
NM_004260.4(RECQL4):c.1620+16C>T
|
rs35569304
|
0.00262
|
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)
|
rs61755066
|
0.00261
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_004260.4(RECQL4):c.2463+6C>T
|
rs35029361
|
0.00229
|
NM_004260.4(RECQL4):c.891C>T (p.Asp297=)
|
rs34700133
|
0.00227
|
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser)
|
rs34371341
|
0.00204
|
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=)
|
rs202045203
|
0.00203
|
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=)
|
rs34271972
|
0.00198
|
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=)
|
rs200114521
|
0.00169
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_004260.4(RECQL4):c.3394-11T>C
|
rs370677156
|
0.00158
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=)
|
rs146398243
|
0.00122
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=)
|
rs145615931
|
0.00116
|
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp)
|
rs36023964
|
0.00112
|
NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe)
|
rs188859497
|
0.00102
|
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=)
|
rs202078917
|
0.00098
|
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)
|
rs199543866
|
0.00082
|
NM_004260.4(RECQL4):c.2464-16G>A
|
rs531951007
|
0.00079
|
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys)
|
rs41555416
|
0.00076
|
NM_004260.4(RECQL4):c.1847A>G (p.Asn616Ser)
|
rs199654783
|
0.00073
|
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)
|
rs201734382
|
0.00070
|
NM_004260.4(RECQL4):c.85-13G>T
|
rs568000575
|
0.00065
|
NM_004260.4(RECQL4):c.1621-8A>G
|
rs373357384
|
0.00064
|
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)
|
rs35225938
|
0.00064
|
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr)
|
rs34103564
|
0.00063
|
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=)
|
rs34919378
|
0.00062
|
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met)
|
rs200941778
|
0.00059
|
NM_004260.4(RECQL4):c.1132-20C>T
|
rs375444239
|
0.00053
|
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)
|
rs34236392
|
0.00053
|
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)
|
rs368989729
|
0.00049
|
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val)
|
rs369815468
|
0.00046
|
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)
|
rs202203322
|
0.00044
|
NM_004260.4(RECQL4):c.355-8C>T
|
rs368782236
|
0.00044
|
NM_004260.4(RECQL4):c.1390+2del
|
rs386833843
|
0.00043
|
NM_004260.4(RECQL4):c.286C>A (p.Arg96=)
|
rs375568877
|
0.00043
|
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys)
|
rs1035057882
|
0.00042
|
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)
|
rs200732690
|
0.00041
|
NM_004260.4(RECQL4):c.3055+5G>A
|
rs377031190
|
0.00038
|
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu)
|
rs550469990
|
0.00036
|
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)
|
rs762456224
|
0.00035
|
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=)
|
rs368908286
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu)
|
rs979012066
|
0.00033
|
NM_004260.4(RECQL4):c.1309C>T (p.Pro437Ser)
|
rs760413890
|
0.00031
|
NM_004260.4(RECQL4):c.2473C>G (p.Leu825Val)
|
rs371519199
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_004260.4(RECQL4):c.1117C>T (p.Leu373Phe)
|
rs370125881
|
0.00030
|
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp)
|
rs193024188
|
0.00029
|
NM_004260.4(RECQL4):c.2886-18C>T
|
rs544576633
|
0.00029
|
NM_004260.4(RECQL4):c.663C>T (p.Ile221=)
|
rs367960606
|
0.00029
|
NM_004260.4(RECQL4):c.10C>T (p.Leu4=)
|
rs878854640
|
0.00028
|
NM_004260.4(RECQL4):c.3056-11C>T
|
rs374983038
|
0.00028
|
NM_004260.4(RECQL4):c.1023C>T (p.Ile341=)
|
rs371421344
|
0.00027
|
NM_004260.4(RECQL4):c.1779C>T (p.Ala593=)
|
rs369939552
|
0.00026
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
NM_004260.4(RECQL4):c.3495C>T (p.His1165=)
|
rs202083938
|
0.00026
|
NM_004260.4(RECQL4):c.214-3C>A
|
rs367849648
|
0.00025
|
NM_004260.4(RECQL4):c.3402T>C (p.Asp1134=)
|
rs371037028
|
0.00025
|
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)
|
rs202043854
|
0.00024
|
NM_004260.4(RECQL4):c.1621-12C>G
|
rs376436364
|
0.00024
|
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp)
|
rs373178405
|
0.00024
|
NM_004260.4(RECQL4):c.1870G>A (p.Val624Ile)
|
rs375100228
|
0.00024
|
NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr)
|
rs970075256
|
0.00024
|
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)
|
rs200629599
|
0.00024
|
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)
|
rs117670586
|
0.00023
|
NM_004260.4(RECQL4):c.337C>A (p.Leu113Met)
|
rs370011366
|
0.00023
|
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys)
|
rs34633809
|
0.00023
|
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp)
|
rs368982201
|
0.00022
|
NM_004260.4(RECQL4):c.944C>T (p.Ser315Leu)
|
rs376493359
|
0.00021
|
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln)
|
rs536096413
|
0.00020
|
NM_004260.4(RECQL4):c.1864C>T (p.Leu622=)
|
rs373717016
|
0.00019
|
NM_004260.4(RECQL4):c.1878+19G>A
|
rs750898692
|
0.00019
|
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met)
|
rs201661055
|
0.00019
|
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro)
|
rs201648505
|
0.00018
|
NM_004260.4(RECQL4):c.3521C>T (p.Ala1174Val)
|
rs587778648
|
0.00018
|
NM_004260.4(RECQL4):c.918G>A (p.Gln306=)
|
rs556744473
|
0.00017
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
NM_004260.4(RECQL4):c.1581G>A (p.Thr527=)
|
rs367559988
|
0.00016
|
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp)
|
rs61759892
|
0.00016
|
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln)
|
rs375562152
|
0.00016
|
NM_004260.4(RECQL4):c.1821C>T (p.Ala607=)
|
rs369178106
|
0.00016
|
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=)
|
rs749542193
|
0.00016
|
NM_004260.4(RECQL4):c.2131G>A (p.Glu711Lys)
|
rs371818842
|
0.00016
|
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys)
|
rs368611522
|
0.00016
|
NM_004260.4(RECQL4):c.2503G>A (p.Asp835Asn)
|
rs373187237
|
0.00016
|
NM_004260.4(RECQL4):c.92T>G (p.Val31Gly)
|
rs904809747
|
0.00016
|
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)
|
rs200097701
|
0.00015
|
NM_004260.4(RECQL4):c.1237G>A (p.Ala413Thr)
|
rs531310005
|
0.00015
|
NM_004260.4(RECQL4):c.2285A>G (p.Gln762Arg)
|
rs543333975
|
0.00015
|
NM_004260.4(RECQL4):c.2748G>A (p.Pro916=)
|
rs370679924
|
0.00015
|
NM_004260.4(RECQL4):c.2907C>G (p.Cys969Trp)
|
rs772780752
|
0.00015
|
NM_004260.4(RECQL4):c.3236+16G>A
|
rs369630024
|
0.00015
|
NM_004260.4(RECQL4):c.1899C>T (p.Gly633=)
|
rs557065974
|
0.00014
|
NM_004260.4(RECQL4):c.2070G>A (p.Thr690=)
|
rs779945948
|
0.00014
|
NM_004260.4(RECQL4):c.2112C>T (p.Ile704=)
|
rs368140492
|
0.00014
|
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr)
|
rs758736784
|
0.00014
|
NM_004260.4(RECQL4):c.2705G>A (p.Arg902Gln)
|
rs372205013
|
0.00014
|
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu)
|
rs375049839
|
0.00014
|
NM_004260.4(RECQL4):c.3573C>T (p.Ser1191=)
|
rs199885535
|
0.00014
|
NM_004260.4(RECQL4):c.69G>A (p.Gly23=)
|
rs1034662952
|
0.00014
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro)
|
rs535692036
|
0.00013
|
NM_004260.4(RECQL4):c.2082C>T (p.Gly694=)
|
rs767210998
|
0.00013
|
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln)
|
rs190061994
|
0.00013
|
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His)
|
rs571684398
|
0.00013
|
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile)
|
rs374225917
|
0.00013
|
NM_004260.4(RECQL4):c.492G>A (p.Glu164=)
|
rs368335924
|
0.00013
|
NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln)
|
rs542466006
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
NM_004260.4(RECQL4):c.2757C>T (p.Ala919=)
|
rs374692233
|
0.00012
|
NM_004260.4(RECQL4):c.2143C>T (p.Arg715Trp)
|
rs373292946
|
0.00011
|
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr)
|
rs373705170
|
0.00011
|
NM_004260.4(RECQL4):c.2670C>T (p.Ala890=)
|
rs780935988
|
0.00011
|
NM_004260.4(RECQL4):c.2769G>A (p.Leu923=)
|
rs368618566
|
0.00011
|
NM_004260.4(RECQL4):c.3162C>T (p.Phe1054=)
|
rs373372297
|
0.00011
|
NM_004260.4(RECQL4):c.3394-9T>G
|
rs746656592
|
0.00011
|
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys)
|
rs202134651
|
0.00011
|
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln)
|
rs374743591
|
0.00010
|
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu)
|
rs944826681
|
0.00010
|
NM_004260.4(RECQL4):c.1132-8C>A
|
rs370660188
|
0.00010
|
NM_004260.4(RECQL4):c.1483+13G>A
|
rs758586322
|
0.00010
|
NM_004260.4(RECQL4):c.1596C>T (p.Pro532=)
|
rs767538015
|
0.00010
|
NM_004260.4(RECQL4):c.3119C>A (p.Pro1040Gln)
|
rs370867731
|
0.00010
|
NM_004260.4(RECQL4):c.3132C>T (p.Thr1044=)
|
rs373238823
|
0.00010
|
NM_004260.4(RECQL4):c.3185G>A (p.Arg1062Gln)
|
rs558058260
|
0.00010
|
NM_004260.4(RECQL4):c.3236+18G>A
|
rs761871401
|
0.00010
|
NM_004260.4(RECQL4):c.3384G>C (p.Gly1128=)
|
rs376559433
|
0.00010
|
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu)
|
rs550470182
|
0.00010
|
NM_004260.4(RECQL4):c.1165T>C (p.Cys389Arg)
|
rs551814194
|
0.00009
|
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=)
|
rs773682937
|
0.00009
|
NM_004260.4(RECQL4):c.1705-11G>A
|
rs777872717
|
0.00009
|
NM_004260.4(RECQL4):c.1720G>A (p.Val574Ile)
|
rs368983561
|
0.00009
|
NM_004260.4(RECQL4):c.2118C>T (p.Tyr706=)
|
rs574326650
|
0.00009
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln)
|
rs931761657
|
0.00009
|
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg)
|
rs769977498
|
0.00009
|
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg)
|
rs754324912
|
0.00009
|
NM_004260.4(RECQL4):c.2538A>G (p.Val846=)
|
rs746303718
|
0.00009
|
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His)
|
rs773154902
|
0.00009
|
NM_004260.4(RECQL4):c.2874C>T (p.Ala958=)
|
rs748601844
|
0.00009
|
NM_004260.4(RECQL4):c.3154T>A (p.Cys1052Ser)
|
rs573929442
|
0.00009
|
NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg)
|
rs571635676
|
0.00009
|
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser)
|
rs201542692
|
0.00009
|
NM_004260.4(RECQL4):c.392G>A (p.Gly131Glu)
|
rs542844885
|
0.00009
|
NM_004260.4(RECQL4):c.633T>C (p.Asp211=)
|
rs571624962
|
0.00009
|
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys)
|
rs201301365
|
0.00009
|
NM_004260.4(RECQL4):c.681C>T (p.Val227=)
|
rs567959067
|
0.00009
|
NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr)
|
rs200382712
|
0.00009
|
NM_004260.4(RECQL4):c.1040G>A (p.Arg347His)
|
rs757988816
|
0.00008
|
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln)
|
rs376045624
|
0.00008
|
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=)
|
rs377022089
|
0.00008
|
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe)
|
rs369852601
|
0.00008
|
NM_004260.4(RECQL4):c.1647G>A (p.Lys549=)
|
rs371972881
|
0.00008
|
NM_004260.4(RECQL4):c.165C>T (p.Ala55=)
|
rs548309647
|
0.00008
|
NM_004260.4(RECQL4):c.171C>T (p.Gly57=)
|
rs758179747
|
0.00008
|
NM_004260.4(RECQL4):c.1879-11C>T
|
rs763124561
|
0.00008
|
NM_004260.4(RECQL4):c.1981G>A (p.Glu661Lys)
|
rs775332504
|
0.00008
|
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met)
|
rs369950284
|
0.00008
|
NM_004260.4(RECQL4):c.214-5T>G
|
rs756714677
|
0.00008
|
NM_004260.4(RECQL4):c.2153C>T (p.Ala718Val)
|
rs769675968
|
0.00008
|
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp)
|
rs200002105
|
0.00008
|
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp)
|
rs750304658
|
0.00008
|
NM_004260.4(RECQL4):c.2394C>T (p.Tyr798=)
|
rs781245845
|
0.00008
|
NM_004260.4(RECQL4):c.2637T>A (p.Pro879=)
|
rs909977633
|
0.00008
|
NM_004260.4(RECQL4):c.3431G>A (p.Arg1144His)
|
rs746892308
|
0.00008
|
NM_004260.4(RECQL4):c.1176T>G (p.Gly392=)
|
rs1054027953
|
0.00007
|
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met)
|
rs747895651
|
0.00007
|
NM_004260.4(RECQL4):c.2224G>A (p.Glu742Lys)
|
rs377026680
|
0.00007
|
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln)
|
rs559066300
|
0.00007
|
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys)
|
rs746005466
|
0.00007
|
NM_004260.4(RECQL4):c.2743A>G (p.Met915Val)
|
rs374898583
|
0.00007
|
NM_004260.4(RECQL4):c.2756-8G>T
|
rs372723857
|
0.00007
|
NM_004260.4(RECQL4):c.2949C>T (p.Ser983=)
|
rs751727270
|
0.00007
|
NM_004260.4(RECQL4):c.3042C>T (p.His1014=)
|
rs750400159
|
0.00007
|
NM_004260.4(RECQL4):c.3236+14G>A
|
rs372380770
|
0.00007
|
NM_004260.4(RECQL4):c.3305A>G (p.Asp1102Gly)
|
rs762384825
|
0.00007
|
NM_004260.4(RECQL4):c.3419G>A (p.Arg1140His)
|
rs767822615
|
0.00007
|
NM_004260.4(RECQL4):c.3512G>A (p.Cys1171Tyr)
|
rs748529710
|
0.00007
|
NM_004260.4(RECQL4):c.647A>G (p.Glu216Gly)
|
rs531780795
|
0.00007
|
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg)
|
rs201763704
|
0.00006
|
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=)
|
rs768991485
|
0.00006
|
NM_004260.4(RECQL4):c.1207T>C (p.Cys403Arg)
|
rs754788578
|
0.00006
|
NM_004260.4(RECQL4):c.1253G>C (p.Arg418Pro)
|
rs548957135
|
0.00006
|
NM_004260.4(RECQL4):c.1284T>C (p.Val428=)
|
rs766635144
|
0.00006
|
NM_004260.4(RECQL4):c.1696C>T (p.Leu566=)
|
rs371981215
|
0.00006
|
NM_004260.4(RECQL4):c.175C>T (p.Leu59Phe)
|
rs752508496
|
0.00006
|
NM_004260.4(RECQL4):c.1761G>A (p.Ala587=)
|
rs777920456
|
0.00006
|
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp)
|
rs766726409
|
0.00006
|
NM_004260.4(RECQL4):c.1869C>T (p.Arg623=)
|
rs368736533
|
0.00006
|
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His)
|
rs771179943
|
0.00006
|
NM_004260.4(RECQL4):c.2154G>A (p.Ala718=)
|
rs745813211
|
0.00006
|
NM_004260.4(RECQL4):c.2196T>A (p.Ser732=)
|
rs373197205
|
0.00006
|
NM_004260.4(RECQL4):c.2200+4C>T
|
rs776670526
|
0.00006
|
NM_004260.4(RECQL4):c.2200+5G>A
|
rs770855894
|
0.00006
|
NM_004260.4(RECQL4):c.2235C>T (p.His745=)
|
rs372501393
|
0.00006
|
NM_004260.4(RECQL4):c.2273G>A (p.Arg758Gln)
|
rs748416710
|
0.00006
|
NM_004260.4(RECQL4):c.2299G>A (p.Val767Met)
|
rs775137905
|
0.00006
|
NM_004260.4(RECQL4):c.2434G>A (p.Ala812Thr)
|
rs372372052
|
0.00006
|
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln)
|
rs770800467
|
0.00006
|
NM_004260.4(RECQL4):c.2485C>T (p.Arg829Cys)
|
rs1470516114
|
0.00006
|
NM_004260.4(RECQL4):c.2499C>T (p.His833=)
|
rs377593129
|
0.00006
|
NM_004260.4(RECQL4):c.2580G>A (p.Pro860=)
|
rs370134665
|
0.00006
|
NM_004260.4(RECQL4):c.2586G>A (p.Ser862=)
|
rs201012205
|
0.00006
|
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=)
|
rs769166199
|
0.00006
|
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala)
|
rs373763805
|
0.00006
|
NM_004260.4(RECQL4):c.2885+9G>A
|
rs578139954
|
0.00006
|
NM_004260.4(RECQL4):c.2910G>A (p.Leu970=)
|
rs771581851
|
0.00006
|
NM_004260.4(RECQL4):c.3065G>A (p.Arg1022His)
|
rs560476442
|
0.00006
|
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys)
|
rs763078132
|
0.00006
|
NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=)
|
rs769367312
|
0.00006
|
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys)
|
rs776023102
|
0.00006
|
NM_004260.4(RECQL4):c.3361G>A (p.Asp1121Asn)
|
rs377390897
|
0.00006
|
NM_004260.4(RECQL4):c.3465C>T (p.Phe1155=)
|
rs376874393
|
0.00006
|
NM_004260.4(RECQL4):c.3502G>A (p.Gly1168Arg)
|
rs781543298
|
0.00006
|
NM_004260.4(RECQL4):c.444C>T (p.Val148=)
|
rs559167672
|
0.00006
|
NM_004260.4(RECQL4):c.702C>T (p.Ser234=)
|
rs907039783
|
0.00006
|
NM_004260.4(RECQL4):c.735C>T (p.Val245=)
|
rs373764166
|
0.00006
|
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys)
|
rs540719285
|
0.00006
|
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)
|
rs199706417
|
0.00006
|
NM_004260.4(RECQL4):c.961G>A (p.Gly321Arg)
|
rs748212145
|
0.00006
|
NM_004260.4(RECQL4):c.1047C>T (p.Asp349=)
|
rs766767449
|
0.00005
|
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln)
|
rs549497811
|
0.00005
|
NM_004260.4(RECQL4):c.1132-17A>G
|
rs755123515
|
0.00005
|
NM_004260.4(RECQL4):c.1259-19C>T
|
rs368604581
|
0.00005
|
NM_004260.4(RECQL4):c.1391-1G>A
|
rs117642173
|
0.00005
|
NM_004260.4(RECQL4):c.1483+7G>A
|
rs373192242
|
0.00005
|
NM_004260.4(RECQL4):c.1484-11_1484-10insT
|
rs746795582
|
0.00005
|
NM_004260.4(RECQL4):c.1826G>A (p.Cys609Tyr)
|
rs939040910
|
0.00005
|
NM_004260.4(RECQL4):c.186C>T (p.Ser62=)
|
rs753359759
|
0.00005
|
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala)
|
rs370912793
|
0.00005
|
NM_004260.4(RECQL4):c.1879-20C>T
|
rs375451371
|
0.00005
|
NM_004260.4(RECQL4):c.2058+6T>C
|
rs759290373
|
0.00005
|
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln)
|
rs184775551
|
0.00005
|
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val)
|
rs763453097
|
0.00005
|
NM_004260.4(RECQL4):c.2176G>A (p.Ala726Thr)
|
rs766748490
|
0.00005
|
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn)
|
rs758319706
|
0.00005
|
NM_004260.4(RECQL4):c.2385C>T (p.Phe795=)
|
rs587778644
|
0.00005
|
NM_004260.4(RECQL4):c.2650del (p.Gln884fs)
|
rs1203766600
|
0.00005
|
NM_004260.4(RECQL4):c.2673A>G (p.Pro891=)
|
rs751424598
|
0.00005
|
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln)
|
rs750261857
|
0.00005
|
NM_004260.4(RECQL4):c.3072del (p.Val1026fs)
|
rs386833852
|
0.00005
|
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu)
|
rs368671582
|
0.00005
|
NM_004260.4(RECQL4):c.3363C>T (p.Asp1121=)
|
rs148752485
|
0.00005
|
NM_004260.4(RECQL4):c.3515A>G (p.Tyr1172Cys)
|
rs779070043
|
0.00005
|
NM_004260.4(RECQL4):c.3544C>T (p.Arg1182Cys)
|
rs376981214
|
0.00005
|
NM_004260.4(RECQL4):c.386C>T (p.Pro129Leu)
|
rs370624395
|
0.00005
|
NM_004260.4(RECQL4):c.455C>T (p.Ala152Val)
|
rs774699880
|
0.00005
|
NM_004260.4(RECQL4):c.525G>A (p.Leu175=)
|
rs562163514
|
0.00005
|
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu)
|
rs199773279
|
0.00005
|
NM_004260.4(RECQL4):c.778G>A (p.Glu260Lys)
|
rs370919817
|
0.00005
|
NM_004260.4(RECQL4):c.85-17A>T
|
rs1008911481
|
0.00005
|
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp)
|
rs768850000
|
0.00004
|
NM_004260.4(RECQL4):c.1031G>A (p.Arg344Gln)
|
rs745874353
|
0.00004
|
NM_004260.4(RECQL4):c.1060G>A (p.Val354Ile)
|
rs551940973
|
0.00004
|
NM_004260.4(RECQL4):c.1109G>A (p.Arg370His)
|
rs377494266
|
0.00004
|
NM_004260.4(RECQL4):c.1155G>A (p.Lys385=)
|
rs1263658929
|
0.00004
|
NM_004260.4(RECQL4):c.118+14G>T
|
rs916059603
|
0.00004
|
NM_004260.4(RECQL4):c.1259-13C>T
|
rs376829470
|
0.00004
|
NM_004260.4(RECQL4):c.1286G>A (p.Gly429Glu)
|
rs761033231
|
0.00004
|
NM_004260.4(RECQL4):c.1288C>T (p.Pro430Ser)
|
rs773561522
|
0.00004
|
NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser)
|
rs557142414
|
0.00004
|
NM_004260.4(RECQL4):c.1365C>T (p.Ser455=)
|
rs974662500
|
0.00004
|
NM_004260.4(RECQL4):c.1404G>A (p.Glu468=)
|
rs371046973
|
0.00004
|
NM_004260.4(RECQL4):c.145A>C (p.Lys49Gln)
|
rs1046890336
|
0.00004
|
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp)
|
rs555407951
|
0.00004
|
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser)
|
rs374965803
|
0.00004
|
NM_004260.4(RECQL4):c.1617C>T (p.Asp539=)
|
rs778916021
|
0.00004
|
NM_004260.4(RECQL4):c.1638G>A (p.Pro546=)
|
rs775478350
|
0.00004
|
NM_004260.4(RECQL4):c.1653C>T (p.Ala551=)
|
rs748651173
|
0.00004
|
NM_004260.4(RECQL4):c.16G>A (p.Asp6Asn)
|
rs1009265867
|
0.00004
|
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser)
|
rs764839023
|
0.00004
|
NM_004260.4(RECQL4):c.1833C>T (p.Ser611=)
|
rs777698581
|
0.00004
|
NM_004260.4(RECQL4):c.1911C>T (p.Phe637=)
|
rs765491293
|
0.00004
|
NM_004260.4(RECQL4):c.192G>C (p.Ser64=)
|
rs559507124
|
0.00004
|
NM_004260.4(RECQL4):c.1942A>G (p.Thr648Ala)
|
rs1395849719
|
0.00004
|
NM_004260.4(RECQL4):c.1959A>G (p.Ala653=)
|
rs574411332
|
0.00004
|
NM_004260.4(RECQL4):c.2058+5G>A
|
rs1041802349
|
0.00004
|
NM_004260.4(RECQL4):c.2107A>G (p.Ile703Val)
|
rs770227800
|
0.00004
|
NM_004260.4(RECQL4):c.2109T>C (p.Ile703=)
|
rs759753484
|
0.00004
|
NM_004260.4(RECQL4):c.2125C>T (p.Arg709Trp)
|
rs199562131
|
0.00004
|
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His)
|
rs781121286
|
0.00004
|
NM_004260.4(RECQL4):c.2264G>A (p.Arg755Gln)
|
rs747445357
|
0.00004
|
NM_004260.4(RECQL4):c.2281A>G (p.Met761Val)
|
rs941552175
|
0.00004
|
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp)
|
rs377173936
|
0.00004
|
NM_004260.4(RECQL4):c.2338C>T (p.Arg780Trp)
|
rs372741479
|
0.00004
|
NM_004260.4(RECQL4):c.2424C>T (p.Asp808=)
|
rs377301609
|
0.00004
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_004260.4(RECQL4):c.2525T>C (p.Val842Ala)
|
rs749829542
|
0.00004
|
NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe)
|
rs367559549
|
0.00004
|
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys)
|
rs763846344
|
0.00004
|
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr)
|
rs186739072
|
0.00004
|
NM_004260.4(RECQL4):c.2756-6C>T
|
rs369289550
|
0.00004
|
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys)
|
rs371890521
|
0.00004
|
NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro)
|
rs774274636
|
0.00004
|
NM_004260.4(RECQL4):c.2799C>T (p.His933=)
|
rs769613313
|
0.00004
|
NM_004260.4(RECQL4):c.2816C>T (p.Ala939Val)
|
rs561220929
|
0.00004
|
NM_004260.4(RECQL4):c.2836C>T (p.Arg946Cys)
|
rs763161407
|
0.00004
|
NM_004260.4(RECQL4):c.2894C>T (p.Pro965Leu)
|
rs766038992
|
0.00004
|
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)
|
rs771538008
|
0.00004
|
NM_004260.4(RECQL4):c.3102C>T (p.Ala1034=)
|
rs774570166
|
0.00004
|
NM_004260.4(RECQL4):c.3120G>A (p.Pro1040=)
|
rs771832340
|
0.00004
|
NM_004260.4(RECQL4):c.3218C>T (p.Thr1073Ile)
|
rs775225569
|
0.00004
|
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu)
|
rs745453660
|
0.00004
|
NM_004260.4(RECQL4):c.3236+9G>A
|
rs747467559
|
0.00004
|
NM_004260.4(RECQL4):c.3237-5C>G
|
rs368617241
|
0.00004
|
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His)
|
rs765087683
|
0.00004
|
NM_004260.4(RECQL4):c.330G>A (p.Lys110=)
|
rs193091206
|
0.00004
|
NM_004260.4(RECQL4):c.3418C>T (p.Arg1140Cys)
|
rs375432640
|
0.00004
|
NM_004260.4(RECQL4):c.3429C>G (p.Ile1143Met)
|
rs529113837
|
0.00004
|
NM_004260.4(RECQL4):c.347C>T (p.Thr116Ile)
|
rs565419066
|
0.00004
|
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=)
|
rs139228543
|
0.00004
|
NM_004260.4(RECQL4):c.354G>A (p.Gln118=)
|
rs544163984
|
0.00004
|
NM_004260.4(RECQL4):c.39G>A (p.Ala13=)
|
rs778012969
|
0.00004
|
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp)
|
rs758010588
|
0.00004
|
NM_004260.4(RECQL4):c.504G>A (p.Arg168=)
|
rs750760763
|
0.00004
|
NM_004260.4(RECQL4):c.544C>T (p.Arg182Trp)
|
rs750986351
|
0.00004
|
NM_004260.4(RECQL4):c.551G>A (p.Gly184Asp)
|
rs369118443
|
0.00004
|
NM_004260.4(RECQL4):c.634C>T (p.Leu212=)
|
rs377012693
|
0.00004
|
NM_004260.4(RECQL4):c.675G>A (p.Ser225=)
|
rs760733547
|
0.00004
|
NM_004260.4(RECQL4):c.709C>G (p.Pro237Ala)
|
rs370391716
|
0.00004
|
NM_004260.4(RECQL4):c.732A>C (p.Glu244Asp)
|
rs750451940
|
0.00004
|
NM_004260.4(RECQL4):c.784C>T (p.Arg262Trp)
|
rs781314533
|
0.00004
|
NM_004260.4(RECQL4):c.1014C>G (p.Pro338=)
|
rs373657692
|
0.00003
|
NM_004260.4(RECQL4):c.102G>T (p.Ala34=)
|
rs1043318406
|
0.00003
|
NM_004260.4(RECQL4):c.1071C>T (p.Asn357=)
|
rs747857375
|
0.00003
|
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln)
|
rs766344677
|
0.00003
|
NM_004260.4(RECQL4):c.1131+12A>G
|
rs767404728
|
0.00003
|
NM_004260.4(RECQL4):c.1131+9G>C
|
rs373765596
|
0.00003
|
NM_004260.4(RECQL4):c.1185C>T (p.Ala395=)
|
rs539629689
|
0.00003
|
NM_004260.4(RECQL4):c.1228G>C (p.Asp410His)
|
rs558779399
|
0.00003
|
NM_004260.4(RECQL4):c.1252C>T (p.Arg418Trp)
|
rs369670064
|
0.00003
|
NM_004260.4(RECQL4):c.1258+15C>T
|
rs754841430
|
0.00003
|
NM_004260.4(RECQL4):c.1259-12T>C
|
rs539767366
|
0.00003
|
NM_004260.4(RECQL4):c.1259-1G>A
|
rs372380880
|
0.00003
|
NM_004260.4(RECQL4):c.1259-20C>T
|
rs201864865
|
0.00003
|
NM_004260.4(RECQL4):c.127C>T (p.Arg43Trp)
|
rs761113605
|
0.00003
|
NM_004260.4(RECQL4):c.1295C>T (p.Pro432Leu)
|
rs368160954
|
0.00003
|
NM_004260.4(RECQL4):c.138C>G (p.Arg46=)
|
rs887031349
|
0.00003
|
NM_004260.4(RECQL4):c.1391-15C>T
|
rs370529775
|
0.00003
|
NM_004260.4(RECQL4):c.1415C>T (p.Ala472Val)
|
rs587778653
|
0.00003
|
NM_004260.4(RECQL4):c.1431G>T (p.Gly477=)
|
rs760661879
|
0.00003
|
NM_004260.4(RECQL4):c.1440C>T (p.Ala480=)
|
rs1060504216
|
0.00003
|
NM_004260.4(RECQL4):c.1444C>T (p.Arg482Cys)
|
rs573164516
|
0.00003
|
NM_004260.4(RECQL4):c.1517C>G (p.Ala506Gly)
|
rs1237298928
|
0.00003
|
NM_004260.4(RECQL4):c.1530G>C (p.Leu510=)
|
rs372597841
|
0.00003
|
NM_004260.4(RECQL4):c.1587C>T (p.Val529=)
|
rs767967343
|
0.00003
|
NM_004260.4(RECQL4):c.1621-9C>T
|
rs758888472
|
0.00003
|
NM_004260.4(RECQL4):c.1626T>C (p.Ser542=)
|
rs754134346
|
0.00003
|
NM_004260.4(RECQL4):c.1628G>T (p.Gly543Val)
|
rs530780933
|
0.00003
|
NM_004260.4(RECQL4):c.1664C>T (p.Ser555Leu)
|
rs755425093
|
0.00003
|
NM_004260.4(RECQL4):c.1667G>A (p.Gly556Asp)
|
rs575020739
|
0.00003
|
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)
|
rs1483085748
|
0.00003
|
NM_004260.4(RECQL4):c.1755G>T (p.Val585=)
|
rs539370260
|
0.00003
|
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln)
|
rs776616498
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004260.4(RECQL4):c.1939C>T (p.Arg647Cys)
|
rs775127620
|
0.00003
|
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu)
|
rs372664774
|
0.00003
|
NM_004260.4(RECQL4):c.1966C>T (p.Leu656=)
|
rs55667349
|
0.00003
|
NM_004260.4(RECQL4):c.2019C>T (p.Asn673=)
|
rs748657934
|
0.00003
|
NM_004260.4(RECQL4):c.2054A>G (p.Asp685Gly)
|
rs985330329
|
0.00003
|
NM_004260.4(RECQL4):c.2058+19G>A
|
rs771449554
|
0.00003
|
NM_004260.4(RECQL4):c.2097C>T (p.Asn699=)
|
rs896790337
|
0.00003
|
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)
|
rs781721739
|
0.00003
|
NM_004260.4(RECQL4):c.2113A>G (p.Ile705Val)
|
rs374262706
|
0.00003
|
NM_004260.4(RECQL4):c.213+16C>T
|
rs758319543
|
0.00003
|
NM_004260.4(RECQL4):c.2134G>A (p.Asp712Asn)
|
rs753254336
|
0.00003
|
NM_004260.4(RECQL4):c.2203C>T (p.Arg735Cys)
|
rs760748569
|
0.00003
|
NM_004260.4(RECQL4):c.2208C>A (p.Ala736=)
|
rs1183777303
|
0.00003
|
NM_004260.4(RECQL4):c.2242A>T (p.Met748Leu)
|
rs370755504
|
0.00003
|
NM_004260.4(RECQL4):c.2244G>A (p.Met748Ile)
|
rs767427869
|
0.00003
|
NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter)
|
rs758790200
|
0.00003
|
NM_004260.4(RECQL4):c.2275G>A (p.Ala759Thr)
|
rs1198791067
|
0.00003
|
NM_004260.4(RECQL4):c.2307_2309dup (p.Ala770dup)
|
rs748979321
|
0.00003
|
NM_004260.4(RECQL4):c.2463+10C>G
|
rs752112003
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_004260.4(RECQL4):c.2502C>T (p.Ala834=)
|
rs751755789
|
0.00003
|
NM_004260.4(RECQL4):c.2506A>G (p.Ser836Gly)
|
rs776668549
|
0.00003
|
NM_004260.4(RECQL4):c.255T>C (p.Ala85=)
|
rs1163167976
|
0.00003
|
NM_004260.4(RECQL4):c.2582C>T (p.Pro861Leu)
|
rs878854647
|
0.00003
|
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys)
|
rs747237323
|
0.00003
|
NM_004260.4(RECQL4):c.2596G>A (p.Gly866Arg)
|
rs778081949
|
0.00003
|
NM_004260.4(RECQL4):c.2605G>A (p.Gly869Ser)
|
rs750282072
|
0.00003
|
NM_004260.4(RECQL4):c.2640A>G (p.Gln880=)
|
rs776935762
|
0.00003
|
NM_004260.4(RECQL4):c.2692A>G (p.Met898Val)
|
rs776189878
|
0.00003
|
NM_004260.4(RECQL4):c.2751G>A (p.Glu917=)
|
rs768002459
|
0.00003
|
NM_004260.4(RECQL4):c.2754G>A (p.Glu918=)
|
rs1060501377
|
0.00003
|
NM_004260.4(RECQL4):c.278C>T (p.Thr93Met)
|
rs754149435
|
0.00003
|
NM_004260.4(RECQL4):c.2855G>A (p.Gly952Asp)
|
rs776281689
|
0.00003
|
NM_004260.4(RECQL4):c.2929G>A (p.Asp977Asn)
|
rs780492921
|
0.00003
|
NM_004260.4(RECQL4):c.293G>C (p.Arg98Pro)
|
rs769634470
|
0.00003
|
NM_004260.4(RECQL4):c.2987T>C (p.Met996Thr)
|
rs771326102
|
0.00003
|
NM_004260.4(RECQL4):c.3055+7C>G
|
rs372511135
|
0.00003
|
NM_004260.4(RECQL4):c.3072A>G (p.Thr1024=)
|
rs754479836
|
0.00003
|
NM_004260.4(RECQL4):c.3163C>T (p.Leu1055Phe)
|
rs769823922
|
0.00003
|
NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp)
|
rs199658221
|
0.00003
|
NM_004260.4(RECQL4):c.3205C>T (p.Arg1069Cys)
|
rs758648484
|
0.00003
|
NM_004260.4(RECQL4):c.3212G>A (p.Arg1071His)
|
rs773856131
|
0.00003
|
NM_004260.4(RECQL4):c.3236+17C>T
|
rs375577319
|
0.00003
|
NM_004260.4(RECQL4):c.3237-20T>G
|
rs780188311
|
0.00003
|
NM_004260.4(RECQL4):c.3238G>A (p.Val1080Ile)
|
rs760241032
|
0.00003
|
NM_004260.4(RECQL4):c.3256G>A (p.Gly1086Arg)
|
rs587778646
|
0.00003
|
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys)
|
rs371049072
|
0.00003
|
NM_004260.4(RECQL4):c.3316C>T (p.Arg1106Cys)
|
rs770193726
|
0.00003
|
NM_004260.4(RECQL4):c.3330A>G (p.Glu1110=)
|
rs754909617
|
0.00003
|
NM_004260.4(RECQL4):c.345C>T (p.Gly115=)
|
rs377027093
|
0.00003
|
NM_004260.4(RECQL4):c.3485G>A (p.Arg1162His)
|
rs747815189
|
0.00003
|
NM_004260.4(RECQL4):c.3502+10G>A
|
rs908693736
|
0.00003
|
NM_004260.4(RECQL4):c.3507C>T (p.Ser1169=)
|
rs370738615
|
0.00003
|
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu)
|
rs772265082
|
0.00003
|
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=)
|
rs763965257
|
0.00003
|
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg)
|
rs776146178
|
0.00003
|
NM_004260.4(RECQL4):c.3582C>T (p.Ala1194=)
|
rs772747279
|
0.00003
|
NM_004260.4(RECQL4):c.35A>G (p.Gln12Arg)
|
rs905077826
|
0.00003
|
NM_004260.4(RECQL4):c.3618G>A (p.Val1206=)
|
rs754822264
|
0.00003
|
NM_004260.4(RECQL4):c.361C>G (p.Pro121Ala)
|
rs756069461
|
0.00003
|
NM_004260.4(RECQL4):c.3623G>A (p.Arg1208His)
|
rs563816306
|
0.00003
|
NM_004260.4(RECQL4):c.388C>T (p.Leu130=)
|
rs878854650
|
0.00003
|
NM_004260.4(RECQL4):c.391G>C (p.Gly131Arg)
|
rs561427528
|
0.00003
|
NM_004260.4(RECQL4):c.425C>T (p.Pro142Leu)
|
rs370312522
|
0.00003
|
NM_004260.4(RECQL4):c.507A>G (p.Pro169=)
|
rs755588645
|
0.00003
|
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp)
|
rs775651175
|
0.00003
|
NM_004260.4(RECQL4):c.558A>G (p.Leu186=)
|
rs376582536
|
0.00003
|
NM_004260.4(RECQL4):c.599A>G (p.Asp200Gly)
|
rs755687763
|
0.00003
|
NM_004260.4(RECQL4):c.655C>T (p.Leu219Phe)
|
rs756820839
|
0.00003
|
NM_004260.4(RECQL4):c.699C>T (p.Gly233=)
|
rs770614796
|
0.00003
|
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys)
|
rs746487281
|
0.00003
|
NM_004260.4(RECQL4):c.777C>T (p.Gly259=)
|
rs201571855
|
0.00003
|
NM_004260.4(RECQL4):c.796G>A (p.Glu266Lys)
|
rs543009701
|
0.00003
|
NM_004260.4(RECQL4):c.7C>T (p.Arg3Trp)
|
rs886042531
|
0.00003
|
NM_004260.4(RECQL4):c.864G>A (p.Gly288=)
|
rs1182438148
|
0.00003
|
NM_004260.4(RECQL4):c.886G>A (p.Glu296Lys)
|
rs1024635326
|
0.00003
|
NM_004260.4(RECQL4):c.909A>G (p.Val303=)
|
rs377295171
|
0.00003
|
NM_004260.4(RECQL4):c.930C>G (p.Pro310=)
|
rs751163976
|
0.00003
|
NM_004260.4(RECQL4):c.942A>C (p.Pro314=)
|
rs567678020
|
0.00003
|
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu)
|
rs1220650736
|
0.00003
|
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser)
|
rs781105713
|
0.00003
|
NM_004260.4(RECQL4):c.1024T>C (p.Phe342Leu)
|
rs772388357
|
0.00002
|
NM_004260.4(RECQL4):c.1048A>G (p.Arg350Gly)
|
rs878854639
|
0.00002
|
NM_004260.4(RECQL4):c.1070A>G (p.Asn357Ser)
|
rs771851520
|
0.00002
|
NM_004260.4(RECQL4):c.1073T>C (p.Met358Thr)
|
rs376652305
|
0.00002
|
NM_004260.4(RECQL4):c.1080G>A (p.Gln360=)
|
rs768049351
|
0.00002
|
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His)
|
rs398124115
|
0.00002
|
NM_004260.4(RECQL4):c.1131+19A>G
|
rs762567822
|
0.00002
|
NM_004260.4(RECQL4):c.1131+5G>A
|
rs758482986
|
0.00002
|
NM_004260.4(RECQL4):c.1144A>G (p.Lys382Glu)
|
rs758161368
|
0.00002
|
NM_004260.4(RECQL4):c.1146G>T (p.Lys382Asn)
|
rs759321310
|
0.00002
|
NM_004260.4(RECQL4):c.1213C>T (p.Leu405=)
|
rs973308698
|
0.00002
|
NM_004260.4(RECQL4):c.1259-6C>T
|
rs745614383
|
0.00002
|
NM_004260.4(RECQL4):c.134A>T (p.Tyr45Phe)
|
rs748521485
|
0.00002
|
NM_004260.4(RECQL4):c.1351C>T (p.Leu451=)
|
rs1257077599
|
0.00002
|
NM_004260.4(RECQL4):c.1369G>T (p.Gly457Trp)
|
rs750720279
|
0.00002
|
NM_004260.4(RECQL4):c.1394C>T (p.Thr465Met)
|
rs899474226
|
0.00002
|
NM_004260.4(RECQL4):c.1406T>C (p.Val469Ala)
|
rs529104564
|
0.00002
|
NM_004260.4(RECQL4):c.1445G>A (p.Arg482His)
|
rs751616549
|
0.00002
|
NM_004260.4(RECQL4):c.1456G>C (p.Glu486Gln)
|
rs768311526
|
0.00002
|
NM_004260.4(RECQL4):c.1459C>T (p.Arg487Cys)
|
rs762386238
|
0.00002
|
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His)
|
rs775200679
|
0.00002
|
NM_004260.4(RECQL4):c.1471C>T (p.Arg491Trp)
|
rs746417965
|
0.00002
|
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln)
|
rs777256889
|
0.00002
|
NM_004260.4(RECQL4):c.1483+3G>A
|
rs771224692
|
0.00002
|
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met)
|
rs1358382637
|
0.00002
|
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met)
|
rs376587038
|
0.00002
|
NM_004260.4(RECQL4):c.149G>A (p.Arg50His)
|
rs551963857
|
0.00002
|
NM_004260.4(RECQL4):c.1519G>A (p.Gly507Ser)
|
rs587778655
|
0.00002
|
NM_004260.4(RECQL4):c.1608C>T (p.Leu536=)
|
rs772078220
|
0.00002
|
NM_004260.4(RECQL4):c.1621-16G>A
|
rs745572933
|
0.00002
|
NM_004260.4(RECQL4):c.1621-17C>T
|
rs769603253
|
0.00002
|
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu)
|
rs377298374
|
0.00002
|
NM_004260.4(RECQL4):c.1659A>G (p.Ile553Met)
|
rs1034720495
|
0.00002
|
NM_004260.4(RECQL4):c.1665G>A (p.Ser555=)
|
rs756736123
|
0.00002
|
NM_004260.4(RECQL4):c.166G>A (p.Gly56Ser)
|
rs777837612
|
0.00002
|
NM_004260.4(RECQL4):c.1704+14G>T
|
rs749796411
|
0.00002
|
NM_004260.4(RECQL4):c.1726G>A (p.Val576Met)
|
rs570331496
|
0.00002
|
NM_004260.4(RECQL4):c.1735C>G (p.Leu579Val)
|
rs552226907
|
0.00002
|
NM_004260.4(RECQL4):c.1780G>A (p.Ala594Thr)
|
rs376364416
|
0.00002
|
NM_004260.4(RECQL4):c.1788G>C (p.Leu596=)
|
rs752313281
|
0.00002
|
NM_004260.4(RECQL4):c.1857C>T (p.Pro619=)
|
rs772421497
|
0.00002
|
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys)
|
rs772515188
|
0.00002
|
NM_004260.4(RECQL4):c.1914G>A (p.Leu638=)
|
rs754026048
|
0.00002
|
NM_004260.4(RECQL4):c.1917C>T (p.Gly639=)
|
rs1226734309
|
0.00002
|
NM_004260.4(RECQL4):c.1930G>A (p.Ala644Thr)
|
rs774323224
|
0.00002
|
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys)
|
rs398124116
|
0.00002
|
NM_004260.4(RECQL4):c.1953C>T (p.Asp651=)
|
rs778308001
|
0.00002
|
NM_004260.4(RECQL4):c.1969G>A (p.Ala657Thr)
|
rs993147176
|
0.00002
|
NM_004260.4(RECQL4):c.1972G>A (p.Val658Met)
|
rs373608888
|
0.00002
|
NM_004260.4(RECQL4):c.1996G>A (p.Gly666Arg)
|
rs776218553
|
0.00002
|
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr)
|
rs372717152
|
0.00002
|
NM_004260.4(RECQL4):c.2058+12T>C
|
rs536891148
|
0.00002
|
NM_004260.4(RECQL4):c.2080G>C (p.Gly694Arg)
|
rs750118023
|
0.00002
|
NM_004260.4(RECQL4):c.2085A>G (p.Lys695=)
|
rs761422037
|
0.00002
|
NM_004260.4(RECQL4):c.2087G>A (p.Arg696His)
|
rs1026729951
|
0.00002
|
NM_004260.4(RECQL4):c.2124C>T (p.Asn708=)
|
rs749266091
|
0.00002
|
NM_004260.4(RECQL4):c.2128C>T (p.Arg710Cys)
|
rs750126506
|
0.00002
|
NM_004260.4(RECQL4):c.2162G>A (p.Arg721Gln)
|
rs558451720
|
0.00002
|
NM_004260.4(RECQL4):c.2174A>T (p.His725Leu)
|
rs755481980
|
0.00002
|
NM_004260.4(RECQL4):c.2175C>T (p.His725=)
|
rs569844897
|
0.00002
|
NM_004260.4(RECQL4):c.2200+3G>A
|
rs1436956816
|
0.00002
|
NM_004260.4(RECQL4):c.2207C>G (p.Ala736Gly)
|
rs771790911
|
0.00002
|
NM_004260.4(RECQL4):c.221A>G (p.Glu74Gly)
|
rs759778382
|
0.00002
|
NM_004260.4(RECQL4):c.2277C>T (p.Ala759=)
|
rs1434774811
|
0.00002
|
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala)
|
rs370863264
|
0.00002
|
NM_004260.4(RECQL4):c.2350C>T (p.Arg784Trp)
|
rs753386714
|
0.00002
|
NM_004260.4(RECQL4):c.237G>T (p.Gly79=)
|
rs954589490
|
0.00002
|
NM_004260.4(RECQL4):c.2404G>A (p.Val802Met)
|
rs897118164
|
0.00002
|
NM_004260.4(RECQL4):c.2406G>A (p.Val802=)
|
rs754692026
|
0.00002
|
NM_004260.4(RECQL4):c.2411G>A (p.Arg804Gln)
|
rs1060501375
|
0.00002
|
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg)
|
rs767102398
|
0.00002
|
NM_004260.4(RECQL4):c.2463+3T>C
|
rs538535710
|
0.00002
|
NM_004260.4(RECQL4):c.2463+4G>A
|
rs1449275619
|
0.00002
|
NM_004260.4(RECQL4):c.2464-4G>A
|
rs371431265
|
0.00002
|
NM_004260.4(RECQL4):c.2464-5T>C
|
rs564541064
|
0.00002
|
NM_004260.4(RECQL4):c.2464-9G>A
|
rs1411942968
|
0.00002
|
NM_004260.4(RECQL4):c.2470G>C (p.Asp824His)
|
rs901313954
|
0.00002
|
NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr)
|
rs370432468
|
0.00002
|
NM_004260.4(RECQL4):c.2493T>C (p.His831=)
|
rs780421783
|
0.00002
|
NM_004260.4(RECQL4):c.2496G>A (p.Val832=)
|
rs756463555
|
0.00002
|
NM_004260.4(RECQL4):c.251G>C (p.Arg84Pro)
|
rs745596664
|
0.00002
|
NM_004260.4(RECQL4):c.2522C>T (p.Ala841Val)
|
rs768110067
|
0.00002
|
NM_004260.4(RECQL4):c.2542C>T (p.Arg848Cys)
|
rs757540549
|
0.00002
|
NM_004260.4(RECQL4):c.2558G>A (p.Cys853Tyr)
|
rs998405899
|
0.00002
|
NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter)
|
rs1054186954
|
0.00002
|
NM_004260.4(RECQL4):c.2665G>A (p.Ala889Thr)
|
rs754977025
|
0.00002
|
NM_004260.4(RECQL4):c.2691C>T (p.Cys897=)
|
rs1383283920
|
0.00002
|
NM_004260.4(RECQL4):c.2693T>C (p.Met898Thr)
|
rs771630323
|
0.00002
|
NM_004260.4(RECQL4):c.2694G>C (p.Met898Ile)
|
rs1382869672
|
0.00002
|
NM_004260.4(RECQL4):c.2735C>T (p.Ala912Val)
|
rs752408076
|
0.00002
|
NM_004260.4(RECQL4):c.2749G>A (p.Glu917Lys)
|
rs377343487
|
0.00002
|
NM_004260.4(RECQL4):c.2756-17C>G
|
rs531236566
|
0.00002
|
NM_004260.4(RECQL4):c.2791C>T (p.Pro931Ser)
|
rs768352855
|
0.00002
|
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser)
|
rs1359100897
|
0.00002
|
NM_004260.4(RECQL4):c.2820C>T (p.Thr940=)
|
rs758900021
|
0.00002
|
NM_004260.4(RECQL4):c.2822C>G (p.Thr941Ser)
|
rs1060501368
|
0.00002
|
NM_004260.4(RECQL4):c.2831A>G (p.His944Arg)
|
rs759772792
|
0.00002
|
NM_004260.4(RECQL4):c.2847C>T (p.Cys949=)
|
rs560394637
|
0.00002
|
NM_004260.4(RECQL4):c.2849C>G (p.Pro950Arg)
|
rs769664095
|
0.00002
|
NM_004260.4(RECQL4):c.2873C>T (p.Ala958Val)
|
rs758952928
|
0.00002
|
NM_004260.4(RECQL4):c.2877G>A (p.Leu959=)
|
rs779276650
|
0.00002
|
NM_004260.4(RECQL4):c.2928G>C (p.Glu976Asp)
|
rs1391709653
|
0.00002
|
NM_004260.4(RECQL4):c.2941G>A (p.Gly981Ser)
|
rs757541591
|
0.00002
|
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=)
|
rs373784742
|
0.00002
|
NM_004260.4(RECQL4):c.2958G>A (p.Glu986=)
|
rs766197579
|
0.00002
|
NM_004260.4(RECQL4):c.2966T>G (p.Met989Arg)
|
rs767220757
|
0.00002
|
NM_004260.4(RECQL4):c.2973G>C (p.Lys991Asn)
|
rs763547531
|
0.00002
|
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr)
|
rs373202723
|
0.00002
|
NM_004260.4(RECQL4):c.29G>A (p.Arg10Gln)
|
rs1001894022
|
0.00002
|
NM_004260.4(RECQL4):c.2T>G (p.Met1Arg)
|
rs1815451689
|
0.00002
|
NM_004260.4(RECQL4):c.3027G>A (p.Gln1009=)
|
rs372660887
|
0.00002
|
NM_004260.4(RECQL4):c.3043G>A (p.Glu1015Lys)
|
rs771381171
|
0.00002
|
NM_004260.4(RECQL4):c.3055+20A>C
|
rs756983251
|
0.00002
|
NM_004260.4(RECQL4):c.3056-14A>G
|
rs948348185
|
0.00002
|
NM_004260.4(RECQL4):c.3075G>A (p.Gly1025=)
|
rs753381594
|
0.00002
|
NM_004260.4(RECQL4):c.311A>C (p.Asp104Ala)
|
rs754123663
|
0.00002
|
NM_004260.4(RECQL4):c.3145G>A (p.Asp1049Asn)
|
rs1176326208
|
0.00002
|
NM_004260.4(RECQL4):c.3261C>T (p.Pro1087=)
|
rs749540920
|
0.00002
|
NM_004260.4(RECQL4):c.3268G>A (p.Glu1090Lys)
|
rs756401653
|
0.00002
|
NM_004260.4(RECQL4):c.3271C>A (p.Gln1091Lys)
|
rs137853230
|
0.00002
|
NM_004260.4(RECQL4):c.3282G>A (p.Glu1094=)
|
rs752540498
|
0.00002
|
NM_004260.4(RECQL4):c.3290G>A (p.Ser1097Asn)
|
rs1400903506
|
0.00002
|
NM_004260.4(RECQL4):c.3303G>A (p.Lys1101=)
|
rs771528925
|
0.00002
|
NM_004260.4(RECQL4):c.3309G>T (p.Leu1103=)
|
rs986482653
|
0.00002
|
NM_004260.4(RECQL4):c.3312C>T (p.Leu1104=)
|
rs903928753
|
0.00002
|
NM_004260.4(RECQL4):c.3342G>C (p.Gln1114His)
|
rs990831417
|
0.00002
|
NM_004260.4(RECQL4):c.335A>G (p.Asn112Ser)
|
rs372651895
|
0.00002
|
NM_004260.4(RECQL4):c.3375C>T (p.Pro1125=)
|
rs749208991
|
0.00002
|
NM_004260.4(RECQL4):c.3393+2T>G
|
rs557284122
|
0.00002
|
NM_004260.4(RECQL4):c.3394-1G>C
|
rs752301125
|
0.00002
|
NM_004260.4(RECQL4):c.3423C>T (p.Cys1141=)
|
rs370611564
|
0.00002
|
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr)
|
rs759478327
|
0.00002
|
NM_004260.4(RECQL4):c.3484C>T (p.Arg1162Cys)
|
rs773088003
|
0.00002
|
NM_004260.4(RECQL4):c.3501C>T (p.Ile1167=)
|
rs746323102
|
0.00002
|
NM_004260.4(RECQL4):c.3503-4G>A
|
rs747471318
|
0.00002
|
NM_004260.4(RECQL4):c.3519G>A (p.Pro1173=)
|
rs754019797
|
0.00002
|
NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn)
|
rs758188100
|
0.00002
|
NM_004260.4(RECQL4):c.355-5C>T
|
rs372368046
|
0.00002
|
NM_004260.4(RECQL4):c.355-7C>T
|
rs376295056
|
0.00002
|
NM_004260.4(RECQL4):c.3591C>T (p.Gly1197=)
|
rs1377108265
|
0.00002
|
NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter)
|
rs748047415
|
0.00002
|
NM_004260.4(RECQL4):c.447C>T (p.Pro149=)
|
rs377485079
|
0.00002
|
NM_004260.4(RECQL4):c.482A>G (p.Gln161Arg)
|
rs1449551392
|
0.00002
|
NM_004260.4(RECQL4):c.495C>G (p.Pro165=)
|
rs1361421482
|
0.00002
|
NM_004260.4(RECQL4):c.508G>T (p.Gly170Cys)
|
rs774750928
|
0.00002
|
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln)
|
rs753361853
|
0.00002
|
NM_004260.4(RECQL4):c.554C>T (p.Ser185Phe)
|
rs751922746
|
0.00002
|
NM_004260.4(RECQL4):c.559G>A (p.Asp187Asn)
|
rs775849340
|
0.00002
|
NM_004260.4(RECQL4):c.56G>A (p.Arg19Gln)
|
rs1231840928
|
0.00002
|
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu)
|
rs776532961
|
0.00002
|
NM_004260.4(RECQL4):c.609G>A (p.Gly203=)
|
rs781731943
|
0.00002
|
NM_004260.4(RECQL4):c.642A>G (p.Ser214=)
|
rs768486146
|
0.00002
|
NM_004260.4(RECQL4):c.785G>A (p.Arg262Gln)
|
rs781569277
|
0.00002
|
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn)
|
rs780327528
|
0.00002
|
NM_004260.4(RECQL4):c.85-9C>T
|
rs751358754
|
0.00002
|
NM_004260.4(RECQL4):c.857C>T (p.Ser286Leu)
|
rs757320755
|
0.00002
|
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser)
|
rs892796827
|
0.00002
|
NM_004260.4(RECQL4):c.896C>T (p.Pro299Leu)
|
rs1421975384
|
0.00002
|
NM_004260.4(RECQL4):c.919C>T (p.Pro307Ser)
|
rs1338979565
|
0.00002
|
NM_004260.4(RECQL4):c.938G>C (p.Ser313Thr)
|
rs762426271
|
0.00002
|
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)
|
rs745658597
|
0.00002
|
NM_004260.4(RECQL4):c.1007C>T (p.Thr336Ile)
|
rs1470222070
|
0.00001
|
NM_004260.4(RECQL4):c.1009G>C (p.Ala337Pro)
|
rs1171953080
|
0.00001
|
NM_004260.4(RECQL4):c.1012C>T (p.Pro338Ser)
|
rs754299237
|
0.00001
|
NM_004260.4(RECQL4):c.1014C>T (p.Pro338=)
|
rs373657692
|
0.00001
|
NM_004260.4(RECQL4):c.1020C>T (p.His340=)
|
rs760928279
|
0.00001
|
NM_004260.4(RECQL4):c.1021A>G (p.Ile341Val)
|
rs1022453211
|
0.00001
|
NM_004260.4(RECQL4):c.1027C>T (p.Pro343Ser)
|
rs1379758021
|
0.00001
|
NM_004260.4(RECQL4):c.1036G>A (p.Ala346Thr)
|
rs770798229
|
0.00001
|
NM_004260.4(RECQL4):c.1037C>T (p.Ala346Val)
|
rs746740293
|
0.00001
|
NM_004260.4(RECQL4):c.1039C>T (p.Arg347Cys)
|
rs534507419
|
0.00001
|
NM_004260.4(RECQL4):c.1044T>C (p.His348=)
|
rs754473947
|
0.00001
|
NM_004260.4(RECQL4):c.1045G>A (p.Asp349Asn)
|
rs1045634487
|
0.00001
|
NM_004260.4(RECQL4):c.1046A>G (p.Asp349Gly)
|
rs566907631
|
0.00001
|
NM_004260.4(RECQL4):c.1053C>T (p.Gly351=)
|
rs1355050231
|
0.00001
|
NM_004260.4(RECQL4):c.1055A>G (p.Asn352Ser)
|
rs761136493
|
0.00001
|
NM_004260.4(RECQL4):c.1059C>T (p.Tyr353=)
|
rs750709443
|
0.00001
|
NM_004260.4(RECQL4):c.105G>A (p.Pro35=)
|
rs1303907631
|
0.00001
|
NM_004260.4(RECQL4):c.1062A>G (p.Val354=)
|
rs774698155
|
0.00001
|
NM_004260.4(RECQL4):c.1066C>T (p.Leu356Phe)
|
rs1293545938
|
0.00001
|
NM_004260.4(RECQL4):c.1072A>G (p.Met358Val)
|
rs371503929
|
0.00001
|
NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter)
|
rs375236875
|
0.00001
|
NM_004260.4(RECQL4):c.1084C>T (p.His362Tyr)
|
rs1186265538
|
0.00001
|
NM_004260.4(RECQL4):c.1085A>G (p.His362Arg)
|
rs1016687510
|
0.00001
|
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg)
|
rs763114749
|
0.00001
|
NM_004260.4(RECQL4):c.1099C>T (p.Arg367Trp)
|
rs531175632
|
0.00001
|
NM_004260.4(RECQL4):c.109G>A (p.Glu37Lys)
|
rs1395545206
|
0.00001
|
NM_004260.4(RECQL4):c.1105C>T (p.Leu369Phe)
|
rs999036216
|
0.00001
|
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys)
|
rs368979398
|
0.00001
|
NM_004260.4(RECQL4):c.1114A>G (p.Arg372Gly)
|
rs1042662106
|
0.00001
|
NM_004260.4(RECQL4):c.1123C>T (p.Arg375Cys)
|
rs746423729
|
0.00001
|
NM_004260.4(RECQL4):c.1125C>A (p.Arg375=)
|
rs560231629
|
0.00001
|
NM_004260.4(RECQL4):c.1127A>G (p.Lys376Arg)
|
rs375459768
|
0.00001
|
NM_004260.4(RECQL4):c.1128G>C (p.Lys376Asn)
|
rs764389677
|
0.00001
|
NM_004260.4(RECQL4):c.1129C>G (p.Gln377Glu)
|
rs372521987
|
0.00001
|
NM_004260.4(RECQL4):c.1131+14G>A
|
rs768489339
|
0.00001
|
NM_004260.4(RECQL4):c.1131+8A>G
|
rs932213064
|
0.00001
|
NM_004260.4(RECQL4):c.1131G>A (p.Gln377=)
|
rs911864123
|
0.00001
|
NM_004260.4(RECQL4):c.1132-10C>T
|
rs555738992
|
0.00001
|
NM_004260.4(RECQL4):c.1132-1G>A
|
rs751503394
|
0.00001
|
NM_004260.4(RECQL4):c.1140G>A (p.Lys380=)
|
rs1159732841
|
0.00001
|
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp)
|
rs766026341
|
0.00001
|
NM_004260.4(RECQL4):c.1171G>C (p.Gly391Arg)
|
rs749556633
|
0.00001
|
NM_004260.4(RECQL4):c.1173G>A (p.Gly391=)
|
rs780235892
|
0.00001
|
NM_004260.4(RECQL4):c.118+8C>T
|
rs1157702150
|
0.00001
|
NM_004260.4(RECQL4):c.118+9G>A
|
rs1472638346
|
0.00001
|
NM_004260.4(RECQL4):c.1187C>T (p.Thr396Ile)
|
rs752564961
|
0.00001
|
NM_004260.4(RECQL4):c.1188A>G (p.Thr396=)
|
rs1002397552
|
0.00001
|
NM_004260.4(RECQL4):c.119-5C>A
|
rs759011490
|
0.00001
|
NM_004260.4(RECQL4):c.1199A>C (p.Lys400Thr)
|
rs1489838661
|
0.00001
|
NM_004260.4(RECQL4):c.1208G>A (p.Cys403Tyr)
|
rs753593981
|
0.00001
|
NM_004260.4(RECQL4):c.1209T>C (p.Cys403=)
|
rs949806741
|
0.00001
|
NM_004260.4(RECQL4):c.1214T>C (p.Leu405Pro)
|
rs747571431
|
0.00001
|
NM_004260.4(RECQL4):c.1218C>T (p.Asn406=)
|
rs760132114
|
0.00001
|
NM_004260.4(RECQL4):c.1221G>A (p.Glu407=)
|
rs1036693573
|
0.00001
|
NM_004260.4(RECQL4):c.1227C>T (p.Phe409=)
|
rs1060504219
|
0.00001
|
NM_004260.4(RECQL4):c.123C>T (p.Leu41=)
|
rs771451032
|
0.00001
|
NM_004260.4(RECQL4):c.1240G>T (p.Ala414Ser)
|
rs1188265182
|
0.00001
|
NM_004260.4(RECQL4):c.1250C>T (p.Pro417Leu)
|
rs1258987986
|
0.00001
|
NM_004260.4(RECQL4):c.1251C>T (p.Pro417=)
|
rs1060504213
|
0.00001
|
NM_004260.4(RECQL4):c.1258+15C>G
|
rs754841430
|
0.00001
|
NM_004260.4(RECQL4):c.1258+3G>A
|
rs748155891
|
0.00001
|
NM_004260.4(RECQL4):c.1259-18C>T
|
rs773365191
|
0.00001
|
NM_004260.4(RECQL4):c.125A>G (p.Tyr42Cys)
|
rs1416508252
|
0.00001
|
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn)
|
rs765611938
|
0.00001
|
NM_004260.4(RECQL4):c.1275A>G (p.Thr425=)
|
rs1586817653
|
0.00001
|
NM_004260.4(RECQL4):c.1287G>T (p.Gly429=)
|
rs1327623229
|
0.00001
|
NM_004260.4(RECQL4):c.128G>C (p.Arg43Pro)
|
rs1169021603
|
0.00001
|
NM_004260.4(RECQL4):c.1292A>G (p.Glu431Gly)
|
rs1342271031
|
0.00001
|
NM_004260.4(RECQL4):c.1300G>T (p.Val434Phe)
|
rs761938967
|
0.00001
|
NM_004260.4(RECQL4):c.1303C>T (p.Pro435Ser)
|
rs769553486
|
0.00001
|
NM_004260.4(RECQL4):c.1315C>T (p.Pro439Ser)
|
rs776349086
|
0.00001
|
NM_004260.4(RECQL4):c.1318G>A (p.Val440Ile)
|
rs770710973
|
0.00001
|
NM_004260.4(RECQL4):c.1326G>A (p.Glu442=)
|
rs1184969354
|
0.00001
|
NM_004260.4(RECQL4):c.1347C>T (p.Thr449=)
|
rs200763671
|
0.00001
|
NM_004260.4(RECQL4):c.1353G>A (p.Leu451=)
|
rs1482137668
|
0.00001
|
NM_004260.4(RECQL4):c.1359C>G (p.Leu453=)
|
rs1331671057
|
0.00001
|
NM_004260.4(RECQL4):c.136C>A (p.Arg46Ser)
|
rs1268307700
|
0.00001
|
NM_004260.4(RECQL4):c.1372C>T (p.Pro458Ser)
|
rs761992231
|
0.00001
|
NM_004260.4(RECQL4):c.1376C>T (p.Ser459Leu)
|
rs774240479
|
0.00001
|
NM_004260.4(RECQL4):c.1381C>A (p.Gln461Lys)
|
rs1465965797
|
0.00001
|
NM_004260.4(RECQL4):c.1383G>T (p.Gln461His)
|
rs1395093722
|
0.00001
|
NM_004260.4(RECQL4):c.1384T>C (p.Leu462=)
|
rs759459549
|
0.00001
|
NM_004260.4(RECQL4):c.1387G>A (p.Ala463Thr)
|
rs776602501
|
0.00001
|
NM_004260.4(RECQL4):c.1390+10C>T
|
rs1211903875
|
0.00001
|
NM_004260.4(RECQL4):c.1390+12G>C
|
rs1256370377
|
0.00001
|
NM_004260.4(RECQL4):c.1390+13C>T
|
rs925181039
|
0.00001
|
NM_004260.4(RECQL4):c.1390+14T>A
|
rs1483677181
|
0.00001
|
NM_004260.4(RECQL4):c.1390+16C>T
|
rs772882711
|
0.00001
|
NM_004260.4(RECQL4):c.1390+20C>T
|
rs747705426
|
0.00001
|
NM_004260.4(RECQL4):c.1390+6C>A
|
rs770762372
|
0.00001
|
NM_004260.4(RECQL4):c.1390+8G>A
|
rs746758227
|
0.00001
|
NM_004260.4(RECQL4):c.1390+9T>G
|
rs1314895802
|
0.00001
|
NM_004260.4(RECQL4):c.1391-3C>T
|
rs772931084
|
0.00001
|
NM_004260.4(RECQL4):c.1391-7T>C
|
rs566362207
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004260.4(RECQL4):c.1412A>G (p.Gln471Arg)
|
rs1162234134
|
0.00001
|
NM_004260.4(RECQL4):c.1422G>A (p.Glu474=)
|
rs540385009
|
0.00001
|
NM_004260.4(RECQL4):c.142C>T (p.Leu48=)
|
rs1273649766
|
0.00001
|
NM_004260.4(RECQL4):c.1432C>T (p.His478Tyr)
|
rs750354218
|
0.00001
|
NM_004260.4(RECQL4):c.1435C>T (p.Gln479Ter)
|
rs1254532871
|
0.00001
|
NM_004260.4(RECQL4):c.143_144del (p.Leu48fs)
|
rs1554904773
|
0.00001
|
NM_004260.4(RECQL4):c.1461T>C (p.Arg487=)
|
rs1827974826
|
0.00001
|
NM_004260.4(RECQL4):c.1462G>A (p.Ala488Thr)
|
rs925075047
|
0.00001
|
NM_004260.4(RECQL4):c.1464A>C (p.Ala488=)
|
rs557734785
|
0.00001
|
NM_004260.4(RECQL4):c.1477C>T (p.Leu493=)
|
rs1352827683
|
0.00001
|
NM_004260.4(RECQL4):c.1483+6C>T
|
rs376137809
|
0.00001
|
NM_004260.4(RECQL4):c.1483+8T>C
|
rs1827968502
|
0.00001
|
NM_004260.4(RECQL4):c.1484-10C>T
|
rs1307887954
|
0.00001
|
NM_004260.4(RECQL4):c.1484-12C>T
|
rs775255999
|
0.00001
|
NM_004260.4(RECQL4):c.1484-3C>T
|
rs372583903
|
0.00001
|
NM_004260.4(RECQL4):c.1487T>C (p.Ile496Thr)
|
rs772318434
|
0.00001
|
NM_004260.4(RECQL4):c.1498C>T (p.Leu500=)
|
rs892424433
|
0.00001
|
NM_004260.4(RECQL4):c.1501G>A (p.Val501Met)
|
rs1016151338
|
0.00001
|
NM_004260.4(RECQL4):c.1511C>T (p.Thr504Ile)
|
rs183852597
|
0.00001
|
NM_004260.4(RECQL4):c.1513G>A (p.Gly505Ser)
|
rs1586815330
|
0.00001
|
NM_004260.4(RECQL4):c.1518C>T (p.Ala506=)
|
rs757280460
|
0.00001
|
NM_004260.4(RECQL4):c.1521C>T (p.Gly507=)
|
rs763993982
|
0.00001
|
NM_004260.4(RECQL4):c.1524G>A (p.Lys508=)
|
rs1564801666
|
0.00001
|
NM_004260.4(RECQL4):c.1532G>A (p.Cys511Tyr)
|
rs1060501361
|
0.00001
|
NM_004260.4(RECQL4):c.1538A>G (p.Gln513Arg)
|
rs759124032
|
0.00001
|
NM_004260.4(RECQL4):c.1543C>T (p.Pro515Ser)
|
rs761310564
|
0.00001
|
NM_004260.4(RECQL4):c.1552C>T (p.Leu518Phe)
|
rs568597345
|
0.00001
|
NM_004260.4(RECQL4):c.1554C>T (p.Leu518=)
|
rs780249574
|
0.00001
|
NM_004260.4(RECQL4):c.1560C>T (p.Ser520=)
|
rs1827942611
|
0.00001
|
NM_004260.4(RECQL4):c.1562G>A (p.Arg521Gln)
|
rs747019774
|
0.00001
|
NM_004260.4(RECQL4):c.1575C>T (p.Cys525=)
|
rs1318317428
|
0.00001
|
NM_004260.4(RECQL4):c.1579A>G (p.Thr527Ala)
|
rs760080894
|
0.00001
|
NM_004260.4(RECQL4):c.1580C>G (p.Thr527Arg)
|
rs766354337
|
0.00001
|
NM_004260.4(RECQL4):c.1585G>C (p.Val529Leu)
|
rs1459761249
|
0.00001
|
NM_004260.4(RECQL4):c.1590C>T (p.Val530=)
|
rs762167003
|
0.00001
|
NM_004260.4(RECQL4):c.1592C>T (p.Ser531Phe)
|
rs774637277
|
0.00001
|
NM_004260.4(RECQL4):c.1597C>T (p.Leu533=)
|
rs769939735
|
0.00001
|
NM_004260.4(RECQL4):c.1598T>A (p.Leu533Gln)
|
rs986491410
|
0.00001
|
NM_004260.4(RECQL4):c.1599G>A (p.Leu533=)
|
rs1827932871
|
0.00001
|
NM_004260.4(RECQL4):c.1600C>T (p.Leu534=)
|
rs1227993301
|
0.00001
|
NM_004260.4(RECQL4):c.1606C>T (p.Leu536Phe)
|
rs1370366623
|
0.00001
|
NM_004260.4(RECQL4):c.1609A>G (p.Met537Val)
|
rs748083596
|
0.00001
|
NM_004260.4(RECQL4):c.1620+12G>C
|
rs373765720
|
0.00001
|
NM_004260.4(RECQL4):c.1620+13G>A
|
rs1564801038
|
0.00001
|
NM_004260.4(RECQL4):c.1620+15C>T
|
rs762377220
|
0.00001
|
NM_004260.4(RECQL4):c.1620+8C>T
|
rs1186876956
|
0.00001
|
NM_004260.4(RECQL4):c.1620+9A>G
|
rs779520713
|
0.00001
|
NM_004260.4(RECQL4):c.1621-4G>C
|
rs765558442
|
0.00001
|
NM_004260.4(RECQL4):c.1650G>A (p.Ala550=)
|
rs770513069
|
0.00001
|
NM_004260.4(RECQL4):c.1652C>T (p.Ala551Val)
|
rs587778643
|
0.00001
|
NM_004260.4(RECQL4):c.1653C>G (p.Ala551=)
|
rs748651173
|
0.00001
|
NM_004260.4(RECQL4):c.1656C>T (p.Cys552=)
|
rs1194078242
|
0.00001
|
NM_004260.4(RECQL4):c.1661A>G (p.His554Arg)
|
rs779426316
|
0.00001
|
NM_004260.4(RECQL4):c.1669A>G (p.Met557Val)
|
rs1270237157
|
0.00001
|
NM_004260.4(RECQL4):c.1674C>T (p.Thr558=)
|
rs1328875137
|
0.00001
|
NM_004260.4(RECQL4):c.1683A>G (p.Gln561=)
|
rs1332576218
|
0.00001
|
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys)
|
rs1370043767
|
0.00001
|
NM_004260.4(RECQL4):c.169G>A (p.Gly57Ser)
|
rs1060501373
|
0.00001
|
NM_004260.4(RECQL4):c.1704+19T>C
|
rs1043491319
|
0.00001
|
NM_004260.4(RECQL4):c.1704+2T>C
|
rs772896860
|
0.00001
|
NM_004260.4(RECQL4):c.1704+3G>C
|
rs1210896009
|
0.00001
|
NM_004260.4(RECQL4):c.1704G>A (p.Lys568=)
|
rs878854642
|
0.00001
|
NM_004260.4(RECQL4):c.1705-15T>C
|
rs757557206
|
0.00001
|
NM_004260.4(RECQL4):c.1709G>A (p.Arg570Gln)
|
rs755865911
|
0.00001
|
NM_004260.4(RECQL4):c.1722A>G (p.Val574=)
|
rs1052177697
|
0.00001
|
NM_004260.4(RECQL4):c.1725C>T (p.His575=)
|
rs773841916
|
0.00001
|
NM_004260.4(RECQL4):c.1741C>A (p.Pro581Thr)
|
rs776147492
|
0.00001
|
NM_004260.4(RECQL4):c.1746G>A (p.Glu582=)
|
rs965194395
|
0.00001
|
NM_004260.4(RECQL4):c.1754T>G (p.Val585Gly)
|
rs927576418
|
0.00001
|
NM_004260.4(RECQL4):c.1756G>A (p.Gly586Arg)
|
rs878854643
|
0.00001
|
NM_004260.4(RECQL4):c.1757G>A (p.Gly586Glu)
|
rs1060501369
|
0.00001
|
NM_004260.4(RECQL4):c.1760C>T (p.Ala587Val)
|
rs747307935
|
0.00001
|
NM_004260.4(RECQL4):c.1760del (p.Ala587fs)
|
rs1827833554
|
0.00001
|
NM_004260.4(RECQL4):c.1762G>A (p.Gly588Arg)
|
rs1476505217
|
0.00001
|
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val)
|
rs1259051495
|
0.00001
|
NM_004260.4(RECQL4):c.1767C>T (p.Gly589=)
|
rs1485975717
|
0.00001
|
NM_004260.4(RECQL4):c.1770C>T (p.Leu590=)
|
rs377398995
|
0.00001
|
NM_004260.4(RECQL4):c.1774C>T (p.Pro592Ser)
|
rs1235051312
|
0.00001
|
NM_004260.4(RECQL4):c.1776A>G (p.Pro592=)
|
rs1025483401
|
0.00001
|
NM_004260.4(RECQL4):c.1781C>T (p.Ala594Val)
|
rs763773600
|
0.00001
|
NM_004260.4(RECQL4):c.1784A>C (p.Gln595Pro)
|
rs762566552
|
0.00001
|
NM_004260.4(RECQL4):c.1797T>C (p.Val599=)
|
rs776984776
|
0.00001
|
NM_004260.4(RECQL4):c.179G>A (p.Arg60His)
|
rs1060501374
|
0.00001
|
NM_004260.4(RECQL4):c.1805C>T (p.Ala602Val)
|
rs773424120
|
0.00001
|
NM_004260.4(RECQL4):c.1806C>A (p.Ala602=)
|
rs772219901
|
0.00001
|
NM_004260.4(RECQL4):c.1810A>G (p.Ile604Val)
|
rs1467801930
|
0.00001
|
NM_004260.4(RECQL4):c.1820C>T (p.Ala607Val)
|
rs1479605538
|
0.00001
|
NM_004260.4(RECQL4):c.1822C>T (p.His608Tyr)
|
rs375033380
|
0.00001
|
NM_004260.4(RECQL4):c.1824C>T (p.His608=)
|
rs1308085391
|
0.00001
|
NM_004260.4(RECQL4):c.1827C>T (p.Cys609=)
|
rs371310357
|
0.00001
|
NM_004260.4(RECQL4):c.1828C>T (p.Leu610Phe)
|
rs751453635
|
0.00001
|
NM_004260.4(RECQL4):c.1832C>G (p.Ser611Cys)
|
rs766282231
|
0.00001
|
NM_004260.4(RECQL4):c.1837T>C (p.Trp613Arg)
|
rs1394819507
|
0.00001
|
NM_004260.4(RECQL4):c.1841C>T (p.Ser614Phe)
|
rs1462959391
|
0.00001
|
NM_004260.4(RECQL4):c.1843C>A (p.His615Asn)
|
rs1355971313
|
0.00001
|
NM_004260.4(RECQL4):c.1848C>T (p.Asn616=)
|
rs758924887
|
0.00001
|
NM_004260.4(RECQL4):c.1858T>G (p.Cys620Gly)
|
rs762061985
|
0.00001
|
NM_004260.4(RECQL4):c.1859G>A (p.Cys620Tyr)
|
rs1481613413
|
0.00001
|
NM_004260.4(RECQL4):c.1863C>T (p.Tyr621=)
|
rs1208882721
|
0.00001
|
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr)
|
rs747827741
|
0.00001
|
NM_004260.4(RECQL4):c.1878+10A>G
|
rs754518967
|
0.00001
|
NM_004260.4(RECQL4):c.1878+11T>C
|
rs532723123
|
0.00001
|
NM_004260.4(RECQL4):c.1878G>A (p.Lys626=)
|
rs1433507669
|
0.00001
|
NM_004260.4(RECQL4):c.1879-13G>C
|
rs185203465
|
0.00001
|
NM_004260.4(RECQL4):c.1879-14C>T
|
rs757633347
|
0.00001
|
NM_004260.4(RECQL4):c.1879-4G>A
|
rs759652449
|
0.00001
|
NM_004260.4(RECQL4):c.1879-8T>C
|
rs1205977002
|
0.00001
|
NM_004260.4(RECQL4):c.1879-9C>G
|
rs377339114
|
0.00001
|
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp)
|
rs772074149
|
0.00001
|
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln)
|
rs761794554
|
0.00001
|
NM_004260.4(RECQL4):c.1891C>T (p.Arg631Cys)
|
rs748941688
|
0.00001
|
NM_004260.4(RECQL4):c.1894A>G (p.Met632Val)
|
rs745309255
|
0.00001
|
NM_004260.4(RECQL4):c.18C>T (p.Asp6=)
|
rs1168671636
|
0.00001
|
NM_004260.4(RECQL4):c.1902G>A (p.Val634=)
|
rs1395441455
|
0.00001
|
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr)
|
rs758743745
|
0.00001
|
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro)
|
rs977450143
|
0.00001
|
NM_004260.4(RECQL4):c.1918C>T (p.Leu640Phe)
|
rs766559898
|
0.00001
|
NM_004260.4(RECQL4):c.1922C>A (p.Thr641Lys)
|
rs867428284
|
0.00001
|
NM_004260.4(RECQL4):c.1925C>G (p.Ala642Gly)
|
rs1338105623
|
0.00001
|
NM_004260.4(RECQL4):c.1928C>G (p.Thr643Arg)
|
rs1285078612
|
0.00001
|
NM_004260.4(RECQL4):c.1932C>T (p.Ala644=)
|
rs1368388528
|
0.00001
|
NM_004260.4(RECQL4):c.1937G>A (p.Arg646His)
|
rs762767243
|
0.00001
|
NM_004260.4(RECQL4):c.1941C>T (p.Arg647=)
|
rs780721989
|
0.00001
|
NM_004260.4(RECQL4):c.1945G>A (p.Ala649Thr)
|
rs1035779304
|
0.00001
|
NM_004260.4(RECQL4):c.1946C>G (p.Ala649Gly)
|
rs1451532258
|
0.00001
|
NM_004260.4(RECQL4):c.1949G>A (p.Ser650Asn)
|
rs747496472
|
0.00001
|
NM_004260.4(RECQL4):c.194T>C (p.Leu65Pro)
|
rs1288667600
|
0.00001
|
NM_004260.4(RECQL4):c.1950T>G (p.Ser650Arg)
|
rs1322122107
|
0.00001
|
NM_004260.4(RECQL4):c.1961A>G (p.Gln654Arg)
|
rs534627012
|
0.00001
|
NM_004260.4(RECQL4):c.1965C>T (p.His655=)
|
rs1060504209
|
0.00001
|
NM_004260.4(RECQL4):c.1970C>T (p.Ala657Val)
|
rs1279119304
|
0.00001
|
NM_004260.4(RECQL4):c.1976C>G (p.Ala659Gly)
|
rs1336325647
|
0.00001
|
NM_004260.4(RECQL4):c.1977T>C (p.Ala659=)
|
rs1477564052
|
0.00001
|
NM_004260.4(RECQL4):c.1978G>A (p.Glu660Lys)
|
rs1035926081
|
0.00001
|
NM_004260.4(RECQL4):c.1979A>G (p.Glu660Gly)
|
rs762667669
|
0.00001
|
NM_004260.4(RECQL4):c.1993C>T (p.His665Tyr)
|
rs369674791
|
0.00001
|
NM_004260.4(RECQL4):c.1995C>T (p.His665=)
|
rs759235313
|
0.00001
|
NM_004260.4(RECQL4):c.2005C>G (p.Pro669Ala)
|
rs888214723
|
0.00001
|
NM_004260.4(RECQL4):c.2008G>A (p.Val670Ile)
|
rs1484366007
|
0.00001
|
NM_004260.4(RECQL4):c.2012C>T (p.Pro671Leu)
|
rs889029109
|
0.00001
|
NM_004260.4(RECQL4):c.2013C>T (p.Pro671=)
|
rs746465216
|
0.00001
|
NM_004260.4(RECQL4):c.2022G>A (p.Leu674=)
|
rs1051632635
|
0.00001
|
NM_004260.4(RECQL4):c.2025C>G (p.His675Gln)
|
rs779458343
|
0.00001
|
NM_004260.4(RECQL4):c.2025C>T (p.His675=)
|
rs779458343
|
0.00001
|
NM_004260.4(RECQL4):c.2026C>T (p.Leu676Phe)
|
rs1412869186
|
0.00001
|
NM_004260.4(RECQL4):c.2030C>G (p.Ser677Cys)
|
rs1340252869
|
0.00001
|
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)
|
rs780282337
|
0.00001
|
NM_004260.4(RECQL4):c.2036C>T (p.Ser679Phe)
|
rs750457453
|
0.00001
|
NM_004260.4(RECQL4):c.2038A>G (p.Met680Val)
|
rs1040931249
|
0.00001
|
NM_004260.4(RECQL4):c.2043C>T (p.Asp681=)
|
rs1827766753
|
0.00001
|
NM_004260.4(RECQL4):c.2046G>A (p.Arg682=)
|
rs558318269
|
0.00001
|
NM_004260.4(RECQL4):c.204G>T (p.Ala68=)
|
rs904506458
|
0.00001
|
NM_004260.4(RECQL4):c.2051C>T (p.Thr684Ile)
|
rs911017899
|
0.00001
|
NM_004260.4(RECQL4):c.2053G>A (p.Asp685Asn)
|
rs765039635
|
0.00001
|
NM_004260.4(RECQL4):c.2058+16C>T
|
rs1827760199
|
0.00001
|
NM_004260.4(RECQL4):c.2058+4G>T
|
rs369280644
|
0.00001
|
NM_004260.4(RECQL4):c.2058+8T>G
|
rs1228916625
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_004260.4(RECQL4):c.2059-6C>T
|
rs375702394
|
0.00001
|
NM_004260.4(RECQL4):c.2059-8C>T
|
rs777819705
|
0.00001
|
NM_004260.4(RECQL4):c.2059-9C>T
|
rs1267808558
|
0.00001
|
NM_004260.4(RECQL4):c.2059G>A (p.Ala687Thr)
|
rs1023524924
|
0.00001
|
NM_004260.4(RECQL4):c.2060C>T (p.Ala687Val)
|
rs1204590426
|
0.00001
|
NM_004260.4(RECQL4):c.2067G>C (p.Leu689Phe)
|
rs1342995001
|
0.00001
|
NM_004260.4(RECQL4):c.2071C>T (p.Leu691=)
|
rs1330868114
|
0.00001
|
NM_004260.4(RECQL4):c.2074C>T (p.Leu692=)
|
rs1302487162
|
0.00001
|
NM_004260.4(RECQL4):c.2076G>A (p.Leu692=)
|
rs755812839
|
0.00001
|
NM_004260.4(RECQL4):c.2091T>C (p.Phe697=)
|
rs386833850
|
0.00001
|
NM_004260.4(RECQL4):c.2100C>T (p.Leu700=)
|
rs775812008
|
0.00001
|
NM_004260.4(RECQL4):c.2101G>A (p.Asp701Asn)
|
rs1182814326
|
0.00001
|
NM_004260.4(RECQL4):c.2106C>T (p.Ser702=)
|
rs1483388530
|
0.00001
|
NM_004260.4(RECQL4):c.2114T>C (p.Ile705Thr)
|
rs1060501372
|
0.00001
|
NM_004260.4(RECQL4):c.2119T>C (p.Cys707Arg)
|
rs1410988413
|
0.00001
|
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr)
|
rs1351785836
|
0.00001
|
NM_004260.4(RECQL4):c.2126G>A (p.Arg709Gln)
|
rs947223466
|
0.00001
|
NM_004260.4(RECQL4):c.213+10C>A
|
rs565610567
|
0.00001
|
NM_004260.4(RECQL4):c.213+14G>A
|
rs777615628
|
0.00001
|
NM_004260.4(RECQL4):c.213+18C>T
|
rs747922918
|
0.00001
|
NM_004260.4(RECQL4):c.213+20C>T
|
rs778712818
|
0.00001
|
NM_004260.4(RECQL4):c.213+4C>T
|
rs768769944
|
0.00001
|
NM_004260.4(RECQL4):c.213+7dup
|
rs760933755
|
0.00001
|
NM_004260.4(RECQL4):c.2133G>A (p.Glu711=)
|
rs757809740
|
0.00001
|
NM_004260.4(RECQL4):c.214-14G>C
|
rs749914535
|
0.00001
|
NM_004260.4(RECQL4):c.214-18C>T
|
rs748051491
|
0.00001
|
NM_004260.4(RECQL4):c.214-7C>T
|
rs1047492140
|
0.00001
|
NM_004260.4(RECQL4):c.2141A>G (p.Glu714Gly)
|
rs766703250
|
0.00001
|
NM_004260.4(RECQL4):c.2142G>A (p.Glu714=)
|
rs1267959360
|
0.00001
|
NM_004260.4(RECQL4):c.2157C>T (p.Leu719=)
|
rs781172674
|
0.00001
|
NM_004260.4(RECQL4):c.2161C>T (p.Arg721Ter)
|
rs746691436
|
0.00001
|
NM_004260.4(RECQL4):c.2170C>G (p.Leu724Val)
|
rs536831548
|
0.00001
|
NM_004260.4(RECQL4):c.2185G>A (p.Val729Ile)
|
rs376141829
|
0.00001
|
NM_004260.4(RECQL4):c.2191G>A (p.Gly731Arg)
|
rs1356416510
|
0.00001
|
NM_004260.4(RECQL4):c.2197G>A (p.Gly733Arg)
|
rs1364066465
|
0.00001
|
NM_004260.4(RECQL4):c.2200+10G>A
|
rs777700633
|
0.00001
|
NM_004260.4(RECQL4):c.2200+8A>G
|
rs746744670
|
0.00001
|
NM_004260.4(RECQL4):c.2200+9T>C
|
rs993836908
|
0.00001
|
NM_004260.4(RECQL4):c.2201-5C>T
|
rs764321990
|
0.00001
|
NM_004260.4(RECQL4):c.2201-8C>T
|
rs200942592
|
0.00001
|
NM_004260.4(RECQL4):c.2204G>A (p.Arg735His)
|
rs773155492
|
0.00001
|
NM_004260.4(RECQL4):c.2209C>T (p.Pro737Ser)
|
rs550529518
|
0.00001
|
NM_004260.4(RECQL4):c.220G>C (p.Glu74Gln)
|
rs765583077
|
0.00001
|
NM_004260.4(RECQL4):c.2210C>T (p.Pro737Leu)
|
rs773886849
|
0.00001
|
NM_004260.4(RECQL4):c.2227G>A (p.Ala743Thr)
|
rs1763223517
|
0.00001
|
NM_004260.4(RECQL4):c.2233C>T (p.His745Tyr)
|
rs747466614
|
0.00001
|
NM_004260.4(RECQL4):c.2250C>T (p.Ser750=)
|
rs761639839
|
0.00001
|
NM_004260.4(RECQL4):c.2257C>T (p.Arg753Trp)
|
rs367570292
|
0.00001
|
NM_004260.4(RECQL4):c.2258G>A (p.Arg753Gln)
|
rs540601452
|
0.00001
|
NM_004260.4(RECQL4):c.227G>A (p.Arg76His)
|
rs771110626
|
0.00001
|
NM_004260.4(RECQL4):c.2280C>T (p.Phe760=)
|
rs1060504217
|
0.00001
|
NM_004260.4(RECQL4):c.2283G>A (p.Met761Ile)
|
rs1291088541
|
0.00001
|
NM_004260.4(RECQL4):c.2288G>A (p.Gly763Asp)
|
rs1164917814
|
0.00001
|
NM_004260.4(RECQL4):c.2301G>A (p.Val767=)
|
rs1442614863
|
0.00001
|
NM_004260.4(RECQL4):c.2308G>A (p.Ala770Thr)
|
rs759107465
|
0.00001
|
NM_004260.4(RECQL4):c.2310C>T (p.Ala770=)
|
rs1440926889
|
0.00001
|
NM_004260.4(RECQL4):c.2312C>T (p.Thr771Met)
|
rs770327474
|
0.00001
|
NM_004260.4(RECQL4):c.2313G>A (p.Thr771=)
|
rs747577031
|
0.00001
|
NM_004260.4(RECQL4):c.2314G>A (p.Val772Met)
|
rs1343306408
|
0.00001
|
NM_004260.4(RECQL4):c.2328G>A (p.Met776Ile)
|
rs1368178192
|
0.00001
|
NM_004260.4(RECQL4):c.2331G>A (p.Gly777=)
|
rs1391751255
|
0.00001
|
NM_004260.4(RECQL4):c.2335G>A (p.Asp779Asn)
|
rs780228802
|
0.00001
|
NM_004260.4(RECQL4):c.2343A>G (p.Pro781=)
|
rs1060504215
|
0.00001
|
NM_004260.4(RECQL4):c.2346T>C (p.Asp782=)
|
rs752556078
|
0.00001
|
NM_004260.4(RECQL4):c.2347G>A (p.Val783Met)
|
rs1483530082
|
0.00001
|
NM_004260.4(RECQL4):c.2349G>A (p.Val783=)
|
rs759285126
|
0.00001
|
NM_004260.4(RECQL4):c.2375C>T (p.Pro792Leu)
|
rs1471609431
|
0.00001
|
NM_004260.4(RECQL4):c.2376C>T (p.Pro792=)
|
rs768878258
|
0.00001
|
NM_004260.4(RECQL4):c.2379A>G (p.Pro793=)
|
rs780098660
|
0.00001
|
NM_004260.4(RECQL4):c.2388G>A (p.Glu796=)
|
rs1378138545
|
0.00001
|
NM_004260.4(RECQL4):c.2398C>T (p.Gln800Ter)
|
rs1206089987
|
0.00001
|
NM_004260.4(RECQL4):c.23G>C (p.Arg8Pro)
|
rs896245546
|
0.00001
|
NM_004260.4(RECQL4):c.2400G>A (p.Gln800=)
|
rs752611044
|
0.00001
|
NM_004260.4(RECQL4):c.2403C>T (p.Ala801=)
|
rs778794472
|
0.00001
|
NM_004260.4(RECQL4):c.2407G>A (p.Gly803Ser)
|
rs1827604830
|
0.00001
|
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp)
|
rs753536598
|
0.00001
|
NM_004260.4(RECQL4):c.2414C>T (p.Ala805Val)
|
rs765894032
|
0.00001
|
NM_004260.4(RECQL4):c.2419C>T (p.Arg807Cys)
|
rs764549158
|
0.00001
|
NM_004260.4(RECQL4):c.2437C>T (p.His813Tyr)
|
rs945709072
|
0.00001
|
NM_004260.4(RECQL4):c.2439C>T (p.His813=)
|
rs1286459245
|
0.00001
|
NM_004260.4(RECQL4):c.2451C>T (p.Phe817=)
|
rs778652987
|
0.00001
|
NM_004260.4(RECQL4):c.2457G>A (p.Gln819=)
|
rs754819629
|
0.00001
|
NM_004260.4(RECQL4):c.2463+1G>A
|
rs1295396384
|
0.00001
|
NM_004260.4(RECQL4):c.2463+8C>A
|
rs1294337454
|
0.00001
|
NM_004260.4(RECQL4):c.2463+9C>A
|
rs756789862
|
0.00001
|
NM_004260.4(RECQL4):c.2463G>A (p.Gln821=)
|
rs1447984125
|
0.00001
|
NM_004260.4(RECQL4):c.2464-10T>C
|
rs1223207832
|
0.00001
|
NM_004260.4(RECQL4):c.2464-6C>G
|
rs1172497739
|
0.00001
|
NM_004260.4(RECQL4):c.2464-8C>T
|
rs373671393
|
0.00001
|
NM_004260.4(RECQL4):c.2468_2476del (p.Glu823_Arg826delinsGly)
|
rs1827568539
|
0.00001
|
NM_004260.4(RECQL4):c.2489G>A (p.Arg830Lys)
|
rs747748330
|
0.00001
|
NM_004260.4(RECQL4):c.2490A>G (p.Arg830=)
|
rs778386703
|
0.00001
|
NM_004260.4(RECQL4):c.2500G>A (p.Ala834Thr)
|
rs767722327
|
0.00001
|
NM_004260.4(RECQL4):c.2510C>T (p.Thr837Met)
|
rs149067160
|
0.00001
|
NM_004260.4(RECQL4):c.2511G>A (p.Thr837=)
|
rs772866964
|
0.00001
|
NM_004260.4(RECQL4):c.2513A>C (p.Asp838Ala)
|
rs1317677692
|
0.00001
|
NM_004260.4(RECQL4):c.2514C>T (p.Asp838=)
|
rs771820219
|
0.00001
|
NM_004260.4(RECQL4):c.2518C>T (p.Leu840=)
|
rs201106179
|
0.00001
|
NM_004260.4(RECQL4):c.2524G>A (p.Val842Met)
|
rs1292755928
|
0.00001
|
NM_004260.4(RECQL4):c.2529G>A (p.Lys843=)
|
rs1554897835
|
0.00001
|
NM_004260.4(RECQL4):c.2531G>A (p.Arg844Lys)
|
rs780474951
|
0.00001
|
NM_004260.4(RECQL4):c.2532G>A (p.Arg844=)
|
rs1220237491
|
0.00001
|
NM_004260.4(RECQL4):c.2540A>G (p.Gln847Arg)
|
rs1320033045
|
0.00001
|
NM_004260.4(RECQL4):c.2541G>A (p.Gln847=)
|
rs1363463026
|
0.00001
|
NM_004260.4(RECQL4):c.2552C>T (p.Pro851Leu)
|
rs760522191
|
0.00001
|
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup)
|
rs1363648649
|
0.00001
|
NM_004260.4(RECQL4):c.2555C>T (p.Ala852Val)
|
rs539160096
|
0.00001
|
NM_004260.4(RECQL4):c.2556C>G (p.Ala852=)
|
rs1827553201
|
0.00001
|
NM_004260.4(RECQL4):c.2560A>C (p.Thr854Pro)
|
rs1167670319
|
0.00001
|
NM_004260.4(RECQL4):c.2563T>C (p.Cys855Arg)
|
rs867982056
|
0.00001
|
NM_004260.4(RECQL4):c.2563T>G (p.Cys855Gly)
|
rs867982056
|
0.00001
|
NM_004260.4(RECQL4):c.2565C>G (p.Cys855Trp)
|
rs768163180
|
0.00001
|
NM_004260.4(RECQL4):c.2571C>T (p.Cys857=)
|
rs368088860
|
0.00001
|
NM_004260.4(RECQL4):c.2575A>G (p.Arg859Gly)
|
rs1268491409
|
0.00001
|
NM_004260.4(RECQL4):c.2579C>T (p.Pro860Leu)
|
rs774850992
|
0.00001
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
NM_004260.4(RECQL4):c.2602G>A (p.Val868Met)
|
rs369250614
|
0.00001
|
NM_004260.4(RECQL4):c.2617C>G (p.Pro873Ala)
|
rs751230101
|
0.00001
|
NM_004260.4(RECQL4):c.2617C>T (p.Pro873Ser)
|
rs751230101
|
0.00001
|
NM_004260.4(RECQL4):c.2618C>T (p.Pro873Leu)
|
rs1158920004
|
0.00001
|
NM_004260.4(RECQL4):c.2624C>T (p.Pro875Leu)
|
rs1249837985
|
0.00001
|
NM_004260.4(RECQL4):c.2628G>A (p.Lys876=)
|
rs1195462139
|
0.00001
|
NM_004260.4(RECQL4):c.2631C>T (p.Tyr877=)
|
rs762591075
|
0.00001
|
NM_004260.4(RECQL4):c.2632C>T (p.Pro878Ser)
|
rs375036010
|
0.00001
|
NM_004260.4(RECQL4):c.2643G>A (p.Glu881=)
|
rs984194524
|
0.00001
|
NM_004260.4(RECQL4):c.264G>C (p.Lys88Asn)
|
rs750999910
|
0.00001
|
NM_004260.4(RECQL4):c.2652G>C (p.Gln884His)
|
rs778275815
|
0.00001
|
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)
|
rs1406641581
|
0.00001
|
NM_004260.4(RECQL4):c.2664A>G (p.Gln888=)
|
rs779076624
|
0.00001
|
NM_004260.4(RECQL4):c.2668G>A (p.Ala890Thr)
|
rs750381540
|
0.00001
|
NM_004260.4(RECQL4):c.2671C>T (p.Pro891Ser)
|
rs757175211
|
0.00001
|
NM_004260.4(RECQL4):c.2674G>A (p.Gly892Arg)
|
rs1407549287
|
0.00001
|
NM_004260.4(RECQL4):c.2677C>T (p.Pro893Ser)
|
rs1264247879
|
0.00001
|
NM_004260.4(RECQL4):c.2685G>A (p.Arg895=)
|
rs1259701902
|
0.00001
|
NM_004260.4(RECQL4):c.2686G>C (p.Val896Leu)
|
rs762644049
|
0.00001
|
NM_004260.4(RECQL4):c.2690G>T (p.Cys897Phe)
|
rs1393217982
|
0.00001
|
NM_004260.4(RECQL4):c.2697C>T (p.Gly899=)
|
rs1237280502
|
0.00001
|
NM_004260.4(RECQL4):c.2699A>G (p.His900Arg)
|
rs1827524156
|
0.00001
|
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp)
|
rs761231404
|
0.00001
|
NM_004260.4(RECQL4):c.2706G>A (p.Arg902=)
|
rs772512105
|
0.00001
|
NM_004260.4(RECQL4):c.2713C>A (p.Pro905Thr)
|
rs778939539
|
0.00001
|
NM_004260.4(RECQL4):c.2718A>T (p.Ile906=)
|
rs1010167633
|
0.00001
|
NM_004260.4(RECQL4):c.2727C>T (p.Thr909=)
|
rs757228367
|
0.00001
|
NM_004260.4(RECQL4):c.2730A>T (p.Val910=)
|
rs547042284
|
0.00001
|
NM_004260.4(RECQL4):c.2732A>G (p.Gln911Arg)
|
rs770437224
|
0.00001
|
NM_004260.4(RECQL4):c.2733G>A (p.Gln911=)
|
rs1027496890
|
0.00001
|
NM_004260.4(RECQL4):c.2755+10C>T
|
rs775596331
|
0.00001
|
NM_004260.4(RECQL4):c.2755+16T>C
|
rs758340142
|
0.00001
|
NM_004260.4(RECQL4):c.2755+17A>C
|
rs1269526311
|
0.00001
|
NM_004260.4(RECQL4):c.2755+1G>A
|
rs373130543
|
0.00001
|
NM_004260.4(RECQL4):c.2755+3G>A
|
rs932763075
|
0.00001
|
NM_004260.4(RECQL4):c.2755+6G>A
|
rs1827505860
|
0.00001
|
NM_004260.4(RECQL4):c.2755+9C>A
|
rs749496256
|
0.00001
|
NM_004260.4(RECQL4):c.2756-10C>T
|
rs748950139
|
0.00001
|
NM_004260.4(RECQL4):c.2756-12C>A
|
rs1330035449
|
0.00001
|
NM_004260.4(RECQL4):c.2756-15C>T
|
rs778593672
|
0.00001
|
NM_004260.4(RECQL4):c.2756-5C>T
|
rs541518527
|
0.00001
|
NM_004260.4(RECQL4):c.2758A>G (p.Ile920Val)
|
rs780723602
|
0.00001
|
NM_004260.4(RECQL4):c.2760C>A (p.Ile920=)
|
rs752058642
|
0.00001
|
NM_004260.4(RECQL4):c.2763G>A (p.Glu921=)
|
rs763244862
|
0.00001
|
NM_004260.4(RECQL4):c.2763G>C (p.Glu921Asp)
|
rs763244862
|
0.00001
|
NM_004260.4(RECQL4):c.2764A>G (p.Thr922Ala)
|
rs1827489849
|
0.00001
|
NM_004260.4(RECQL4):c.2765C>T (p.Thr922Ile)
|
rs753044583
|
0.00001
|
NM_004260.4(RECQL4):c.2773T>G (p.Cys925Gly)
|
rs765510227
|
0.00001
|
NM_004260.4(RECQL4):c.2774G>A (p.Cys925Tyr)
|
rs1358613276
|
0.00001
|
NM_004260.4(RECQL4):c.2775C>T (p.Cys925=)
|
rs376838923
|
0.00001
|
NM_004260.4(RECQL4):c.2805G>A (p.Leu935=)
|
rs371434213
|
0.00001
|
NM_004260.4(RECQL4):c.2811G>A (p.Leu937=)
|
rs368178215
|
0.00001
|
NM_004260.4(RECQL4):c.2823C>T (p.Thr941=)
|
rs1827479732
|
0.00001
|
NM_004260.4(RECQL4):c.2826T>C (p.Tyr942=)
|
rs1268031609
|
0.00001
|
NM_004260.4(RECQL4):c.2830C>T (p.His944Tyr)
|
rs527454830
|
0.00001
|
NM_004260.4(RECQL4):c.2831A>C (p.His944Pro)
|
rs759772792
|
0.00001
|
NM_004260.4(RECQL4):c.2832T>C (p.His944=)
|
rs754047453
|
0.00001
|
NM_004260.4(RECQL4):c.2841G>A (p.Leu947=)
|
rs1827476523
|
0.00001
|
NM_004260.4(RECQL4):c.2848C>T (p.Pro950Ser)
|
rs775475361
|
0.00001
|
NM_004260.4(RECQL4):c.2865G>A (p.Gln955=)
|
rs1417243858
|
0.00001
|
NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter)
|
rs368081792
|
0.00001
|
NM_004260.4(RECQL4):c.2871G>A (p.Gln957=)
|
rs548485975
|
0.00001
|
NM_004260.4(RECQL4):c.2879C>T (p.Ala960Val)
|
rs373651108
|
0.00001
|
NM_004260.4(RECQL4):c.2880C>T (p.Ala960=)
|
rs766684128
|
0.00001
|
NM_004260.4(RECQL4):c.2885+19G>A
|
rs759319751
|
0.00001
|
NM_004260.4(RECQL4):c.2885+3A>T
|
rs756288212
|
0.00001
|
NM_004260.4(RECQL4):c.2885+5G>A
|
rs750560547
|
0.00001
|
NM_004260.4(RECQL4):c.2885+8C>T
|
rs370547126
|
0.00001
|
NM_004260.4(RECQL4):c.2886-10C>T
|
rs1060504220
|
0.00001
|
NM_004260.4(RECQL4):c.2886-12C>T
|
rs200998618
|
0.00001
|
NM_004260.4(RECQL4):c.2886-5C>T
|
rs1004279093
|
0.00001
|
NM_004260.4(RECQL4):c.2886-7G>C
|
rs757341042
|
0.00001
|
NM_004260.4(RECQL4):c.2886-8G>A
|
rs1827452946
|
0.00001
|
NM_004260.4(RECQL4):c.2890C>A (p.Pro964Thr)
|
rs33972310
|
0.00001
|
NM_004260.4(RECQL4):c.2893C>T (p.Pro965Ser)
|
rs1383809349
|
0.00001
|
NM_004260.4(RECQL4):c.28C>T (p.Arg10Trp)
|
rs757678397
|
0.00001
|
NM_004260.4(RECQL4):c.2902G>A (p.Val968Met)
|
rs1060501382
|
0.00001
|
NM_004260.4(RECQL4):c.2911G>A (p.Ala971Thr)
|
rs1827445508
|
0.00001
|
NM_004260.4(RECQL4):c.2912C>T (p.Ala971Val)
|
rs1202372780
|
0.00001
|
NM_004260.4(RECQL4):c.2913C>T (p.Ala971=)
|
rs761367235
|
0.00001
|
NM_004260.4(RECQL4):c.2926G>A (p.Glu976Lys)
|
rs35070885
|
0.00001
|
NM_004260.4(RECQL4):c.2932C>T (p.Pro978Ser)
|
rs770014424
|
0.00001
|
NM_004260.4(RECQL4):c.2937G>A (p.Gly979=)
|
rs1434652198
|
0.00001
|
NM_004260.4(RECQL4):c.2955G>A (p.Val985=)
|
rs1244297736
|
0.00001
|
NM_004260.4(RECQL4):c.2968G>A (p.Val990Ile)
|
rs151223648
|
0.00001
|
NM_004260.4(RECQL4):c.2976G>C (p.Leu992=)
|
rs775795557
|
0.00001
|
NM_004260.4(RECQL4):c.297G>A (p.Gln99=)
|
rs745626745
|
0.00001
|
NM_004260.4(RECQL4):c.2982C>T (p.Asp994=)
|
rs770209478
|
0.00001
|
NM_004260.4(RECQL4):c.2985C>T (p.Ser995=)
|
rs980962861
|
0.00001
|
NM_004260.4(RECQL4):c.2986A>G (p.Met996Val)
|
rs781661324
|
0.00001
|
NM_004260.4(RECQL4):c.2997G>A (p.Glu999=)
|
rs902652277
|
0.00001
|
NM_004260.4(RECQL4):c.2998C>T (p.Leu1000=)
|
rs369172759
|
0.00001
|
NM_004260.4(RECQL4):c.2999T>C (p.Leu1000Pro)
|
rs778030723
|
0.00001
|
NM_004260.4(RECQL4):c.3000G>A (p.Leu1000=)
|
rs758339361
|
0.00001
|
NM_004260.4(RECQL4):c.3002C>T (p.Ala1001Val)
|
rs918047641
|
0.00001
|
NM_004260.4(RECQL4):c.3012G>C (p.Arg1004=)
|
rs767281689
|
0.00001
|
NM_004260.4(RECQL4):c.3019C>T (p.Leu1007Phe)
|
rs1342565479
|
0.00001
|
NM_004260.4(RECQL4):c.3021C>T (p.Leu1007=)
|
rs1301549552
|
0.00001
|
NM_004260.4(RECQL4):c.302C>T (p.Ser101Leu)
|
rs62530445
|
0.00001
|
NM_004260.4(RECQL4):c.3032A>G (p.Gln1011Arg)
|
rs765732606
|
0.00001
|
NM_004260.4(RECQL4):c.3040C>G (p.His1014Asp)
|
rs760096494
|
0.00001
|
NM_004260.4(RECQL4):c.3049A>G (p.Arg1017Gly)
|
rs747239208
|
0.00001
|
NM_004260.4(RECQL4):c.304G>A (p.Val102Met)
|
rs377536752
|
0.00001
|
NM_004260.4(RECQL4):c.3055+4C>T
|
rs772320981
|
0.00001
|
NM_004260.4(RECQL4):c.3055+6C>T
|
rs779017449
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004260.4(RECQL4):c.3056-5G>A
|
rs774320251
|
0.00001
|
NM_004260.4(RECQL4):c.3056-6C>T
|
rs748382510
|
0.00001
|
NM_004260.4(RECQL4):c.3060G>A (p.Val1020=)
|
rs768374433
|
0.00001
|
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)
|
rs137853232
|
0.00001
|
NM_004260.4(RECQL4):c.3064C>T (p.Arg1022Cys)
|
rs758008013
|
0.00001
|
NM_004260.4(RECQL4):c.3073G>C (p.Gly1025Arg)
|
rs373739637
|
0.00001
|
NM_004260.4(RECQL4):c.3076G>T (p.Val1026Leu)
|
rs370954099
|
0.00001
|
NM_004260.4(RECQL4):c.3079C>T (p.Leu1027Phe)
|
rs767057306
|
0.00001
|
NM_004260.4(RECQL4):c.3088T>G (p.Phe1030Val)
|
rs759912361
|
0.00001
|
NM_004260.4(RECQL4):c.3089T>C (p.Phe1030Ser)
|
rs376504280
|
0.00001
|
NM_004260.4(RECQL4):c.3090C>T (p.Phe1030=)
|
rs767876394
|
0.00001
|
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His)
|
rs374254271
|
0.00001
|
NM_004260.4(RECQL4):c.3131C>T (p.Thr1044Ile)
|
rs778762414
|
0.00001
|
NM_004260.4(RECQL4):c.3144G>A (p.Lys1048=)
|
rs750905339
|
0.00001
|
NM_004260.4(RECQL4):c.3147C>T (p.Asp1049=)
|
rs767781957
|
0.00001
|
NM_004260.4(RECQL4):c.3156T>C (p.Cys1052=)
|
rs200530038
|
0.00001
|
NM_004260.4(RECQL4):c.3173G>A (p.Arg1058His)
|
rs778819494
|
0.00001
|
NM_004260.4(RECQL4):c.3175G>A (p.Val1059Met)
|
rs749717457
|
0.00001
|
NM_004260.4(RECQL4):c.3176T>C (p.Val1059Ala)
|
rs779743345
|
0.00001
|
NM_004260.4(RECQL4):c.3191G>A (p.Arg1064His)
|
rs757703895
|
0.00001
|
NM_004260.4(RECQL4):c.3195G>A (p.Gln1065=)
|
rs1318054872
|
0.00001
|
NM_004260.4(RECQL4):c.3199C>T (p.Leu1067=)
|
rs940883169
|
0.00001
|
NM_004260.4(RECQL4):c.319C>A (p.Gln107Lys)
|
rs1026197269
|
0.00001
|
NM_004260.4(RECQL4):c.3203C>A (p.Ala1068Asp)
|
rs751964578
|
0.00001
|
NM_004260.4(RECQL4):c.3204C>T (p.Ala1068=)
|
rs764423233
|
0.00001
|
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)
|
rs752847936
|
0.00001
|
NM_004260.4(RECQL4):c.3207T>C (p.Arg1069=)
|
rs1060504218
|
0.00001
|
NM_004260.4(RECQL4):c.3213C>T (p.Arg1071=)
|
rs774307791
|
0.00001
|
NM_004260.4(RECQL4):c.3216A>G (p.Arg1072=)
|
rs1060504212
|
0.00001
|
NM_004260.4(RECQL4):c.3227C>T (p.Ala1076Val)
|
rs1489682094
|
0.00001
|
NM_004260.4(RECQL4):c.3236+10A>C
|
rs778112948
|
0.00001
|
NM_004260.4(RECQL4):c.3236+1G>A
|
rs1327061374
|
0.00001
|
NM_004260.4(RECQL4):c.3236+4G>A
|
rs575764344
|
0.00001
|
NM_004260.4(RECQL4):c.3237-10C>T
|
rs1484652365
|
0.00001
|
NM_004260.4(RECQL4):c.3237-11C>T
|
rs551712440
|
0.00001
|
NM_004260.4(RECQL4):c.3237C>T (p.Ser1079=)
|
rs770553956
|
0.00001
|
NM_004260.4(RECQL4):c.3240A>C (p.Val1080=)
|
rs1313455164
|
0.00001
|
NM_004260.4(RECQL4):c.3243C>G (p.Ala1081=)
|
rs576322077
|
0.00001
|
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=)
|
rs748604051
|
0.00001
|
NM_004260.4(RECQL4):c.324G>A (p.Arg108=)
|
rs767645925
|
0.00001
|
NM_004260.4(RECQL4):c.3255C>T (p.Cys1085=)
|
rs779365826
|
0.00001
|
NM_004260.4(RECQL4):c.3259C>G (p.Pro1087Ala)
|
rs768802673
|
0.00001
|
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr)
|
rs780200030
|
0.00001
|
NM_004260.4(RECQL4):c.3289A>G (p.Ser1097Gly)
|
rs759304160
|
0.00001
|
NM_004260.4(RECQL4):c.3294C>A (p.Thr1098=)
|
rs753659106
|
0.00001
|
NM_004260.4(RECQL4):c.3295A>G (p.Arg1099Gly)
|
rs766056345
|
0.00001
|
NM_004260.4(RECQL4):c.3301A>C (p.Lys1101Gln)
|
rs1060501381
|
0.00001
|
NM_004260.4(RECQL4):c.3304G>T (p.Asp1102Tyr)
|
rs1422371025
|
0.00001
|
NM_004260.4(RECQL4):c.3318C>A (p.Arg1106=)
|
rs781456397
|
0.00001
|
NM_004260.4(RECQL4):c.3319T>C (p.Tyr1107His)
|
rs757342740
|
0.00001
|
NM_004260.4(RECQL4):c.3327G>A (p.Glu1109=)
|
rs992381749
|
0.00001
|
NM_004260.4(RECQL4):c.3331G>A (p.Glu1111Lys)
|
rs1331348912
|
0.00001
|
NM_004260.4(RECQL4):c.3334G>A (p.Glu1112Lys)
|
rs753620447
|
0.00001
|
NM_004260.4(RECQL4):c.3338G>A (p.Gly1113Glu)
|
rs572936673
|
0.00001
|
NM_004260.4(RECQL4):c.3345G>A (p.Glu1115=)
|
rs750008283
|
0.00001
|
NM_004260.4(RECQL4):c.3348G>A (p.Pro1116=)
|
rs368712314
|
0.00001
|
NM_004260.4(RECQL4):c.334A>C (p.Asn112His)
|
rs1815223562
|
0.00001
|
NM_004260.4(RECQL4):c.3352G>A (p.Gly1118Ser)
|
rs773909942
|
0.00001
|
NM_004260.4(RECQL4):c.3364G>A (p.Ala1122Thr)
|
rs369843844
|
0.00001
|
NM_004260.4(RECQL4):c.3372C>T (p.Gly1124=)
|
rs777884007
|
0.00001
|
NM_004260.4(RECQL4):c.3376G>A (p.Glu1126Lys)
|
rs779826649
|
0.00001
|
NM_004260.4(RECQL4):c.3377A>G (p.Glu1126Gly)
|
rs1030415007
|
0.00001
|
NM_004260.4(RECQL4):c.3393+10G>A
|
rs1042489227
|
0.00001
|
NM_004260.4(RECQL4):c.3393+5G>A
|
rs1214839248
|
0.00001
|
NM_004260.4(RECQL4):c.3394-10G>A
|
rs770697720
|
0.00001
|
NM_004260.4(RECQL4):c.3394-16G>A
|
rs774386060
|
0.00001
|
NM_004260.4(RECQL4):c.3394-7C>T
|
rs1273732135
|
0.00001
|
NM_004260.4(RECQL4):c.3411C>T (p.Asp1137=)
|
rs754328779
|
0.00001
|
NM_004260.4(RECQL4):c.3417C>T (p.Val1139=)
|
rs761157177
|
0.00001
|
NM_004260.4(RECQL4):c.3444C>T (p.Ser1148=)
|
rs754479731
|
0.00001
|
NM_004260.4(RECQL4):c.344G>T (p.Gly115Val)
|
rs1715996382
|
0.00001
|
NM_004260.4(RECQL4):c.3457G>A (p.Glu1153Lys)
|
rs564143545
|
0.00001
|
NM_004260.4(RECQL4):c.3461A>G (p.Lys1154Arg)
|
rs767821367
|
0.00001
|
NM_004260.4(RECQL4):c.3463T>C (p.Phe1155Leu)
|
rs757502009
|
0.00001
|
NM_004260.4(RECQL4):c.3474G>A (p.Arg1158=)
|
rs1060504221
|
0.00001
|
NM_004260.4(RECQL4):c.3489C>T (p.Ile1163=)
|
rs1056576166
|
0.00001
|
NM_004260.4(RECQL4):c.348C>G (p.Thr116=)
|
rs747642273
|
0.00001
|
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp)
|
rs1416975304
|
0.00001
|
NM_004260.4(RECQL4):c.3502+15G>T
|
rs1422782410
|
0.00001
|
NM_004260.4(RECQL4):c.3502+1G>C
|
rs757563486
|
0.00001
|
NM_004260.4(RECQL4):c.3502+20A>C
|
rs1564787161
|
0.00001
|
NM_004260.4(RECQL4):c.3503-5C>T
|
rs539465528
|
0.00001
|
NM_004260.4(RECQL4):c.3508C>T (p.Pro1170Ser)
|
rs1038354357
|
0.00001
|
NM_004260.4(RECQL4):c.3518C>T (p.Pro1173Leu)
|
rs1375776479
|
0.00001
|
NM_004260.4(RECQL4):c.351G>A (p.Leu117=)
|
rs373085511
|
0.00001
|
NM_004260.4(RECQL4):c.3526G>C (p.Val1176Leu)
|
rs751477241
|
0.00001
|
NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys)
|
rs1341756990
|
0.00001
|
NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu)
|
rs1827189895
|
0.00001
|
NM_004260.4(RECQL4):c.3536A>C (p.Gln1179Pro)
|
rs939186872
|
0.00001
|
NM_004260.4(RECQL4):c.354+11G>A
|
rs767703150
|
0.00001
|
NM_004260.4(RECQL4):c.354+12G>C
|
rs1248741169
|
0.00001
|
NM_004260.4(RECQL4):c.3541C>T (p.Arg1181Ter)
|
rs765804620
|
0.00001
|
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His)
|
rs557256260
|
0.00001
|
NM_004260.4(RECQL4):c.355-3C>T
|
rs778042700
|
0.00001
|
NM_004260.4(RECQL4):c.3552G>A (p.Trp1184Ter)
|
rs1564786587
|
0.00001
|
NM_004260.4(RECQL4):c.3554G>C (p.Arg1185Thr)
|
rs774756135
|
0.00001
|
NM_004260.4(RECQL4):c.3557A>G (p.Lys1186Arg)
|
rs745722387
|
0.00001
|
NM_004260.4(RECQL4):c.3561C>T (p.Tyr1187=)
|
rs768782202
|
0.00001
|
NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr)
|
rs745930478
|
0.00001
|
NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro)
|
rs752487649
|
0.00001
|
NM_004260.4(RECQL4):c.357C>T (p.Ala119=)
|
rs758460596
|
0.00001
|
NM_004260.4(RECQL4):c.3585G>T (p.Leu1195=)
|
rs767956471
|
0.00001
|
NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met)
|
rs770138542
|
0.00001
|
NM_004260.4(RECQL4):c.3602A>G (p.Glu1201Gly)
|
rs781313959
|
0.00001
|
NM_004260.4(RECQL4):c.366C>T (p.Ala122=)
|
rs1815105153
|
0.00001
|
NM_004260.4(RECQL4):c.367C>G (p.Leu123Val)
|
rs1347447166
|
0.00001
|
NM_004260.4(RECQL4):c.368T>C (p.Leu123Pro)
|
rs1301601410
|
0.00001
|
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp)
|
rs368160871
|
0.00001
|
NM_004260.4(RECQL4):c.372C>T (p.Gly124=)
|
rs763770457
|
0.00001
|
NM_004260.4(RECQL4):c.38C>T (p.Ala13Val)
|
rs1489214833
|
0.00001
|
NM_004260.4(RECQL4):c.397G>A (p.Ala133Thr)
|
rs773349575
|
0.00001
|
NM_004260.4(RECQL4):c.404C>G (p.Ser135Cys)
|
rs748201614
|
0.00001
|
NM_004260.4(RECQL4):c.410C>T (p.Ala137Val)
|
rs527934999
|
0.00001
|
NM_004260.4(RECQL4):c.415A>C (p.Thr139Pro)
|
rs1333499972
|
0.00001
|
NM_004260.4(RECQL4):c.422A>C (p.Lys141Thr)
|
rs1178719750
|
0.00001
|
NM_004260.4(RECQL4):c.423G>A (p.Lys141=)
|
rs374243448
|
0.00001
|
NM_004260.4(RECQL4):c.424C>T (p.Pro142Ser)
|
rs781248589
|
0.00001
|
NM_004260.4(RECQL4):c.426C>T (p.Pro142=)
|
rs1471399547
|
0.00001
|
NM_004260.4(RECQL4):c.427C>G (p.Pro143Ala)
|
rs1023001689
|
0.00001
|
NM_004260.4(RECQL4):c.429A>G (p.Pro143=)
|
rs763675505
|
0.00001
|
NM_004260.4(RECQL4):c.42G>A (p.Trp14Ter)
|
rs1330614261
|
0.00001
|
NM_004260.4(RECQL4):c.435A>G (p.Thr145=)
|
rs752154343
|
0.00001
|
NM_004260.4(RECQL4):c.437G>A (p.Gly146Glu)
|
rs1464115370
|
0.00001
|
NM_004260.4(RECQL4):c.440C>T (p.Pro147Leu)
|
rs759034699
|
0.00001
|
NM_004260.4(RECQL4):c.445C>T (p.Pro149Ser)
|
rs766844431
|
0.00001
|
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu)
|
rs773579080
|
0.00001
|
NM_004260.4(RECQL4):c.461A>G (p.Lys154Arg)
|
rs1815075291
|
0.00001
|
NM_004260.4(RECQL4):c.467G>A (p.Ser156Asn)
|
rs1481579348
|
0.00001
|
NM_004260.4(RECQL4):c.469G>A (p.Asp157Asn)
|
rs746791320
|
0.00001
|
NM_004260.4(RECQL4):c.472G>A (p.Glu158Lys)
|
rs1387642543
|
0.00001
|
NM_004260.4(RECQL4):c.474G>C (p.Glu158Asp)
|
rs1186107059
|
0.00001
|
NM_004260.4(RECQL4):c.475C>T (p.Pro159Ser)
|
rs868299027
|
0.00001
|
NM_004260.4(RECQL4):c.478C>A (p.Pro160Thr)
|
rs758124770
|
0.00001
|
NM_004260.4(RECQL4):c.483G>C (p.Gln161His)
|
rs985628516
|
0.00001
|
NM_004260.4(RECQL4):c.490G>A (p.Glu164Lys)
|
rs576735078
|
0.00001
|
NM_004260.4(RECQL4):c.491A>T (p.Glu164Val)
|
rs1554903532
|
0.00001
|
NM_004260.4(RECQL4):c.493C>A (p.Pro165Thr)
|
rs766897765
|
0.00001
|
NM_004260.4(RECQL4):c.493C>T (p.Pro165Ser)
|
rs766897765
|
0.00001
|
NM_004260.4(RECQL4):c.509G>A (p.Gly170Asp)
|
rs768956367
|
0.00001
|
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln)
|
rs770777125
|
0.00001
|
NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter)
|
rs373180788
|
0.00001
|
NM_004260.4(RECQL4):c.523C>T (p.Leu175=)
|
rs1815057448
|
0.00001
|
NM_004260.4(RECQL4):c.52T>C (p.Phe18Leu)
|
rs941281893
|
0.00001
|
NM_004260.4(RECQL4):c.535C>T (p.Leu179=)
|
rs1308038651
|
0.00001
|
NM_004260.4(RECQL4):c.536T>C (p.Leu179Pro)
|
rs753361853
|
0.00001
|
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn)
|
rs1060501378
|
0.00001
|
NM_004260.4(RECQL4):c.545G>A (p.Arg182Gln)
|
rs565903685
|
0.00001
|
NM_004260.4(RECQL4):c.556C>T (p.Leu186=)
|
rs1171892293
|
0.00001
|
NM_004260.4(RECQL4):c.55C>A (p.Arg19=)
|
rs1401366375
|
0.00001
|
NM_004260.4(RECQL4):c.562C>T (p.Pro188Ser)
|
rs769976284
|
0.00001
|
NM_004260.4(RECQL4):c.563C>T (p.Pro188Leu)
|
rs773241386
|
0.00001
|
NM_004260.4(RECQL4):c.578G>A (p.Arg193Gln)
|
rs747963862
|
0.00001
|
NM_004260.4(RECQL4):c.589G>A (p.Glu197Lys)
|
rs778626045
|
0.00001
|
NM_004260.4(RECQL4):c.590A>C (p.Glu197Ala)
|
rs768304412
|
0.00001
|
NM_004260.4(RECQL4):c.59G>C (p.Arg20Pro)
|
rs990552711
|
0.00001
|
NM_004260.4(RECQL4):c.604C>T (p.Leu202=)
|
rs61754062
|
0.00001
|
NM_004260.4(RECQL4):c.607G>A (p.Gly203Arg)
|
rs1336852149
|
0.00001
|
NM_004260.4(RECQL4):c.60G>A (p.Arg20=)
|
rs1301904200
|
0.00001
|
NM_004260.4(RECQL4):c.611C>T (p.Ala204Val)
|
rs757780731
|
0.00001
|
NM_004260.4(RECQL4):c.612C>T (p.Ala204=)
|
rs1026557548
|
0.00001
|
NM_004260.4(RECQL4):c.614C>T (p.Pro205Leu)
|
rs751975669
|
0.00001
|
NM_004260.4(RECQL4):c.626G>A (p.Arg209Lys)
|
rs753018522
|
0.00001
|
NM_004260.4(RECQL4):c.629C>G (p.Pro210Arg)
|
rs746917248
|
0.00001
|
NM_004260.4(RECQL4):c.631G>C (p.Asp211His)
|
rs776528292
|
0.00001
|
NM_004260.4(RECQL4):c.638G>A (p.Gly213Asp)
|
rs1483707476
|
0.00001
|
NM_004260.4(RECQL4):c.648A>C (p.Glu216Asp)
|
rs780500628
|
0.00001
|
NM_004260.4(RECQL4):c.658C>T (p.Leu220=)
|
rs747576464
|
0.00001
|
NM_004260.4(RECQL4):c.664C>T (p.Pro222Ser)
|
rs758876038
|
0.00001
|
NM_004260.4(RECQL4):c.666T>C (p.Pro222=)
|
rs752965461
|
0.00001
|
NM_004260.4(RECQL4):c.677C>T (p.Ala226Val)
|
rs763975196
|
0.00001
|
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe)
|
rs1316434470
|
0.00001
|
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser)
|
rs745571670
|
0.00001
|
NM_004260.4(RECQL4):c.720A>C (p.Ser240=)
|
rs549406424
|
0.00001
|
NM_004260.4(RECQL4):c.725T>G (p.Phe242Cys)
|
rs780215594
|
0.00001
|
NM_004260.4(RECQL4):c.727C>T (p.Gln243Ter)
|
rs1345625725
|
0.00001
|
NM_004260.4(RECQL4):c.730G>A (p.Glu244Lys)
|
rs756213173
|
0.00001
|
NM_004260.4(RECQL4):c.740T>C (p.Ile247Thr)
|
rs752673956
|
0.00001
|
NM_004260.4(RECQL4):c.743G>A (p.Arg248His)
|
rs759352592
|
0.00001
|
NM_004260.4(RECQL4):c.745G>T (p.Val249Leu)
|
rs756397882
|
0.00001
|
NM_004260.4(RECQL4):c.752del (p.Ser251fs)
|
rs1064796290
|
0.00001
|
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg)
|
rs373588660
|
0.00001
|
NM_004260.4(RECQL4):c.776G>A (p.Gly259Asp)
|
rs1284898299
|
0.00001
|
NM_004260.4(RECQL4):c.788G>A (p.Arg263Lys)
|
rs1477769679
|
0.00001
|
NM_004260.4(RECQL4):c.789A>G (p.Arg263=)
|
rs1430320264
|
0.00001
|
NM_004260.4(RECQL4):c.795C>G (p.Asn265Lys)
|
rs564678543
|
0.00001
|
NM_004260.4(RECQL4):c.7C>A (p.Arg3=)
|
rs886042531
|
0.00001
|
NM_004260.4(RECQL4):c.802C>T (p.Pro268Ser)
|
rs561010978
|
0.00001
|
NM_004260.4(RECQL4):c.803C>T (p.Pro268Leu)
|
rs760340046
|
0.00001
|
NM_004260.4(RECQL4):c.806G>C (p.Trp269Ser)
|
rs137853231
|
0.00001
|
NM_004260.4(RECQL4):c.808G>A (p.Glu270Lys)
|
rs1344294148
|
0.00001
|
NM_004260.4(RECQL4):c.810G>C (p.Glu270Asp)
|
rs1333353971
|
0.00001
|
NM_004260.4(RECQL4):c.816C>T (p.Pro272=)
|
rs761367573
|
0.00001
|
NM_004260.4(RECQL4):c.832G>A (p.Glu278Lys)
|
rs749625708
|
0.00001
|
NM_004260.4(RECQL4):c.839G>A (p.Ser280Asn)
|
rs1452098347
|
0.00001
|
NM_004260.4(RECQL4):c.840C>T (p.Ser280=)
|
rs1407076588
|
0.00001
|
NM_004260.4(RECQL4):c.85-3C>G
|
rs1053090518
|
0.00001
|
NM_004260.4(RECQL4):c.85-4A>T
|
rs942704068
|
0.00001
|
NM_004260.4(RECQL4):c.85-6T>A
|
rs1815408102
|
0.00001
|
NM_004260.4(RECQL4):c.85-8C>T
|
rs1315086855
|
0.00001
|
NM_004260.4(RECQL4):c.851C>T (p.Pro284Leu)
|
rs972715381
|
0.00001
|
NM_004260.4(RECQL4):c.852C>T (p.Pro284=)
|
rs1292797558
|
0.00001
|
NM_004260.4(RECQL4):c.858G>A (p.Ser286=)
|
rs1712693458
|
0.00001
|
NM_004260.4(RECQL4):c.859G>A (p.Glu287Lys)
|
rs1383587887
|
0.00001
|
NM_004260.4(RECQL4):c.869G>A (p.Gly290Glu)
|
rs1007744170
|
0.00001
|
NM_004260.4(RECQL4):c.870G>A (p.Gly290=)
|
rs889504089
|
0.00001
|
NM_004260.4(RECQL4):c.872C>G (p.Ala291Gly)
|
rs1396400224
|
0.00001
|
NM_004260.4(RECQL4):c.875T>C (p.Val292Ala)
|
rs1319653117
|
0.00001
|
NM_004260.4(RECQL4):c.877G>T (p.Ala293Ser)
|
rs1814951208
|
0.00001
|
NM_004260.4(RECQL4):c.883G>A (p.Glu295Lys)
|
rs755963144
|
0.00001
|
NM_004260.4(RECQL4):c.889G>A (p.Asp297Asn)
|
rs767170672
|
0.00001
|
NM_004260.4(RECQL4):c.88G>A (p.Asp30Asn)
|
rs934908599
|
0.00001
|
NM_004260.4(RECQL4):c.897A>G (p.Pro299=)
|
rs1554902618
|
0.00001
|
NM_004260.4(RECQL4):c.898G>T (p.Gly300Trp)
|
rs764510816
|
0.00001
|
NM_004260.4(RECQL4):c.900G>A (p.Gly300=)
|
rs775962155
|
0.00001
|
NM_004260.4(RECQL4):c.904C>T (p.Pro302Ser)
|
rs771135444
|
0.00001
|
NM_004260.4(RECQL4):c.907G>C (p.Val303Leu)
|
rs1489813654
|
0.00001
|
NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter)
|
rs934534826
|
0.00001
|
NM_004260.4(RECQL4):c.912G>A (p.Gln304=)
|
rs907136804
|
0.00001
|
NM_004260.4(RECQL4):c.914C>T (p.Ala305Val)
|
rs578139890
|
0.00001
|
NM_004260.4(RECQL4):c.915A>C (p.Ala305=)
|
rs1467468546
|
0.00001
|
NM_004260.4(RECQL4):c.923C>T (p.Pro308Leu)
|
rs372417964
|
0.00001
|
NM_004260.4(RECQL4):c.940C>T (p.Pro314Ser)
|
rs538222166
|
0.00001
|
NM_004260.4(RECQL4):c.943T>G (p.Ser315Ala)
|
rs1172316141
|
0.00001
|
NM_004260.4(RECQL4):c.945G>A (p.Ser315=)
|
rs371593078
|
0.00001
|
NM_004260.4(RECQL4):c.957C>T (p.Tyr319=)
|
rs984872657
|
0.00001
|
NM_004260.4(RECQL4):c.968G>T (p.Ser323Ile)
|
rs769792064
|
0.00001
|
NM_004260.4(RECQL4):c.988G>A (p.Ala330Thr)
|
rs757933716
|
0.00001
|
NM_004260.4(RECQL4):c.992G>C (p.Gly331Ala)
|
rs1156246668
|
0.00001
|
NM_004260.4(RECQL4):c.998C>G (p.Ala333Gly)
|
rs1586822076
|
0.00001
|
NM_004260.4(RECQL4):c.999T>C (p.Ala333=)
|
rs368084547
|
0.00001
|
NM_004260.4(RECQL4):c.99G>T (p.Ala33=)
|
rs546842338
|
0.00001
|
NC_000008.10:g.(?_145729802)_(145737046_?)del
|
|
|
NC_000008.10:g.(?_145736804)_(145738531_?)dup
|
|
|
NC_000008.10:g.(?_145736804)_(145743178_?)dup
|
|
|
NC_000008.10:g.(?_145736809)_(145739102_?)dup
|
|
|
NC_000008.10:g.(?_145736809)_(145739655_?)del
|
|
|
NC_000008.10:g.(?_145736809)_(145743174_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145739106_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145742902_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145743168_?)del
|
|
|
NC_000008.10:g.(?_145736814)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145737517)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145737562)_145739175del
|
|
|
NC_000008.10:g.(?_145738234)_(145741987_?)del
|
|
|
NC_000008.10:g.(?_145738591)_(145742902_?)dup
|
|
|
NC_000008.10:g.(?_145738945)_(145743168_?)del
|
|
|
NC_000008.10:g.(?_145739302)_(145743168_?)del
|
|
|
NC_000008.10:g.(?_145739619)_(145739814_?)del
|
|
|
NC_000008.10:g.(?_145741748)_(145958266_?)del
|
|
|
NC_000008.10:g.(?_145742424)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145742531)_(145747630_?)del
|
|
|
NC_000008.10:g.(?_145742976)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145742976)_(145743178_?)dup
|
|
|
NC_000008.11:g.(?_144514926)_(144517794_?)del
|
|
|
NC_000008.11:g.144515241CT[1]
|
|
|
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs)
|
rs1564804342
|
|
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)
|
rs1554903709
|
|
NM_004260.3(RECQL4):c.600_602inv (p.Asp200_Phe201delinsGluAsn)
|
|
|
NM_004260.4(RECQL4):c.-1C>T
|
|
|
NM_004260.4(RECQL4):c.1000G>A (p.Glu334Lys)
|
rs1814909763
|
|
NM_004260.4(RECQL4):c.1000G>C (p.Glu334Gln)
|
|
|
NM_004260.4(RECQL4):c.1001A>G (p.Glu334Gly)
|
|
|
NM_004260.4(RECQL4):c.1002G>A (p.Glu334=)
|
|
|
NM_004260.4(RECQL4):c.1002G>C (p.Glu334Asp)
|
|
|
NM_004260.4(RECQL4):c.1003G>A (p.Gly335Ser)
|
rs2130718181
|
|
NM_004260.4(RECQL4):c.1004G>A (p.Gly335Asp)
|
rs915387235
|
|
NM_004260.4(RECQL4):c.1005C>T (p.Gly335=)
|
rs1814908636
|
|
NM_004260.4(RECQL4):c.1006A>C (p.Thr336Pro)
|
rs2130718095
|
|
NM_004260.4(RECQL4):c.1009G>T (p.Ala337Ser)
|
rs1171953080
|
|
NM_004260.4(RECQL4):c.1009del (p.Ala337fs)
|
|
|
NM_004260.4(RECQL4):c.1010C>A (p.Ala337Asp)
|
rs1434732916
|
|
NM_004260.4(RECQL4):c.1010C>G (p.Ala337Gly)
|
|
|
NM_004260.4(RECQL4):c.1010C>T (p.Ala337Val)
|
rs1434732916
|
|
NM_004260.4(RECQL4):c.1011C>A (p.Ala337=)
|
rs759971028
|
|
NM_004260.4(RECQL4):c.1011C>T (p.Ala337=)
|
rs759971028
|
|
NM_004260.4(RECQL4):c.1012C>A (p.Pro338Thr)
|
rs754299237
|
|
NM_004260.4(RECQL4):c.1013C>A (p.Pro338His)
|
rs1554902388
|
|
NM_004260.4(RECQL4):c.1013C>T (p.Pro338Leu)
|
rs1554902388
|
|
NM_004260.4(RECQL4):c.1014C>A (p.Pro338=)
|
rs373657692
|
|
NM_004260.4(RECQL4):c.1015C>G (p.Leu339Val)
|
|
|
NM_004260.4(RECQL4):c.1015C>T (p.Leu339=)
|
rs1238794881
|
|
NM_004260.4(RECQL4):c.1015del (p.Leu339fs)
|
rs1060501384
|
|
NM_004260.4(RECQL4):c.1016T>C (p.Leu339Pro)
|
rs1554902362
|
|
NM_004260.4(RECQL4):c.1017G>A (p.Leu339=)
|
rs1814901296
|
|
NM_004260.4(RECQL4):c.1018C>T (p.His340Tyr)
|
|
|
NM_004260.4(RECQL4):c.101C>T (p.Ala34Val)
|
|
|
NM_004260.4(RECQL4):c.1028C>G (p.Pro343Arg)
|
rs549381989
|
|
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu)
|
rs549381989
|
|
NM_004260.4(RECQL4):c.1031G>C (p.Arg344Pro)
|
rs745874353
|
|
NM_004260.4(RECQL4):c.1031G>T (p.Arg344Leu)
|
rs745874353
|
|
NM_004260.4(RECQL4):c.1032G>A (p.Arg344=)
|
rs1449922805
|
|
NM_004260.4(RECQL4):c.1033C>T (p.Leu345=)
|
|
|
NM_004260.4(RECQL4):c.1034T>C (p.Leu345Pro)
|
|
|
NM_004260.4(RECQL4):c.1035G>A (p.Leu345=)
|
|
|
NM_004260.4(RECQL4):c.1036G>T (p.Ala346Ser)
|
|
|
NM_004260.4(RECQL4):c.1037C>G (p.Ala346Gly)
|
rs746740293
|
|
NM_004260.4(RECQL4):c.1038C>T (p.Ala346=)
|
rs1814890207
|
|
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)
|
rs1586821679
|
|
NM_004260.4(RECQL4):c.103C>G (p.Pro35Ala)
|
rs1304842985
|
|
NM_004260.4(RECQL4):c.1040G>C (p.Arg347Pro)
|
|
|
NM_004260.4(RECQL4):c.1040G>T (p.Arg347Leu)
|
rs757988816
|
|
NM_004260.4(RECQL4):c.1042C>A (p.His348Asn)
|
rs1060501360
|
|
NM_004260.4(RECQL4):c.1042C>T (p.His348Tyr)
|
rs1060501360
|
|
NM_004260.4(RECQL4):c.1043A>T (p.His348Leu)
|
rs201763704
|
|
NM_004260.4(RECQL4):c.1045G>T (p.Asp349Tyr)
|
rs1045634487
|
|
NM_004260.4(RECQL4):c.1047C>G (p.Asp349Glu)
|
rs766767449
|
|
NM_004260.4(RECQL4):c.1048del (p.Arg350fs)
|
rs770874039
|
|
NM_004260.4(RECQL4):c.104C>G (p.Pro35Arg)
|
|
|
NM_004260.4(RECQL4):c.1050G>A (p.Arg350=)
|
rs2130717046
|
|
NM_004260.4(RECQL4):c.1050G>C (p.Arg350Ser)
|
|
|
NM_004260.4(RECQL4):c.1051G>A (p.Gly351Ser)
|
|
|
NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs)
|
rs1586821509
|
|
NM_004260.4(RECQL4):c.1052G>A (p.Gly351Asp)
|
|
|
NM_004260.4(RECQL4):c.1053C>G (p.Gly351=)
|
|
|
NM_004260.4(RECQL4):c.1057T>G (p.Tyr353Asp)
|
rs1387465313
|
|
NM_004260.4(RECQL4):c.1058A>C (p.Tyr353Ser)
|
rs1564805480
|
|
NM_004260.4(RECQL4):c.1058A>G (p.Tyr353Cys)
|
rs1564805480
|
|
NM_004260.4(RECQL4):c.1060G>T (p.Val354Leu)
|
rs551940973
|
|
NM_004260.4(RECQL4):c.1063C>A (p.Arg355=)
|
rs368601097
|
|
NM_004260.4(RECQL4):c.1063C>T (p.Arg355Trp)
|
rs368601097
|
|
NM_004260.4(RECQL4):c.1064G>C (p.Arg355Pro)
|
rs374743591
|
|
NM_004260.4(RECQL4):c.1064G>T (p.Arg355Leu)
|
rs374743591
|
|
NM_004260.4(RECQL4):c.1065G>C (p.Arg355=)
|
rs1586821344
|
|
NM_004260.4(RECQL4):c.1065G>T (p.Arg355=)
|
rs1586821344
|
|
NM_004260.4(RECQL4):c.1067T>C (p.Leu356Pro)
|
|
|
NM_004260.4(RECQL4):c.1068C>T (p.Leu356=)
|
rs1333756453
|
|
NM_004260.4(RECQL4):c.1068_1094del (p.Asn357_Arg365del)
|
rs1828134241
|
|
NM_004260.4(RECQL4):c.1069A>G (p.Asn357Asp)
|
rs772924895
|
|
NM_004260.4(RECQL4):c.106G>A (p.Glu36Lys)
|
|
|
NM_004260.4(RECQL4):c.106G>C (p.Glu36Gln)
|
rs1815402122
|
|
NM_004260.4(RECQL4):c.106GAG[1] (p.Glu37del)
|
rs1239043035
|
|
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg)
|
rs376652305
|
|
NM_004260.4(RECQL4):c.1074G>A (p.Met358Ile)
|
rs2130716492
|
|
NM_004260.4(RECQL4):c.1076A>G (p.Lys359Arg)
|
rs2130716448
|
|
NM_004260.4(RECQL4):c.1077G>A (p.Lys359=)
|
|
|
NM_004260.4(RECQL4):c.1077G>C (p.Lys359Asn)
|
rs533185057
|
|
NM_004260.4(RECQL4):c.1077G>T (p.Lys359Asn)
|
|
|
NM_004260.4(RECQL4):c.1078C>G (p.Gln360Glu)
|
rs375236875
|
|
NM_004260.4(RECQL4):c.1080G>C (p.Gln360His)
|
rs768049351
|
|
NM_004260.4(RECQL4):c.1082A>G (p.Lys361Arg)
|
rs2130716323
|
|
NM_004260.4(RECQL4):c.1086C>G (p.His362Gln)
|
rs1828136142
|
|
NM_004260.4(RECQL4):c.1087T>C (p.Tyr363His)
|
rs2130716237
|
|
NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter)
|
rs377589237
|
|
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)
|
rs377589237
|
|
NM_004260.4(RECQL4):c.1089C>T (p.Tyr363=)
|
rs377589237
|
|
NM_004260.4(RECQL4):c.108G>A (p.Glu36=)
|
|
|
NM_004260.4(RECQL4):c.1090G>C (p.Val364Leu)
|
|
|
NM_004260.4(RECQL4):c.1090G>T (p.Val364Leu)
|
rs144637135
|
|
NM_004260.4(RECQL4):c.1091T>C (p.Val364Ala)
|
|
|
NM_004260.4(RECQL4):c.1092G>A (p.Val364=)
|
rs1292950539
|
|
NM_004260.4(RECQL4):c.1092G>C (p.Val364=)
|
rs1292950539
|
|
NM_004260.4(RECQL4):c.1093C>G (p.Arg365Gly)
|
|
|
NM_004260.4(RECQL4):c.1093C>T (p.Arg365Trp)
|
rs1220847881
|
|
NM_004260.4(RECQL4):c.1095G>A (p.Arg365=)
|
rs2130716004
|
|
NM_004260.4(RECQL4):c.1096G>T (p.Gly366Cys)
|
rs763114749
|
|
NM_004260.4(RECQL4):c.1097del (p.Gly366fs)
|
|
|
NM_004260.4(RECQL4):c.1099C>A (p.Arg367=)
|
|
|
NM_004260.4(RECQL4):c.1099C>G (p.Arg367Gly)
|
rs531175632
|
|
NM_004260.4(RECQL4):c.109del (p.Glu37fs)
|
|
|
NM_004260.4(RECQL4):c.1100G>T (p.Arg367Leu)
|
rs766344677
|
|
NM_004260.4(RECQL4):c.1101G>A (p.Arg367=)
|
|
|
NM_004260.4(RECQL4):c.1101G>C (p.Arg367=)
|
|
|
NM_004260.4(RECQL4):c.1102del (p.Ala368fs)
|
rs886041662
|
|
NM_004260.4(RECQL4):c.1103C>A (p.Ala368Glu)
|
rs1564805178
|
|
NM_004260.4(RECQL4):c.1103C>T (p.Ala368Val)
|
rs1564805178
|
|
NM_004260.4(RECQL4):c.1106T>C (p.Leu369Pro)
|
|
|
NM_004260.4(RECQL4):c.1106T>G (p.Leu369Arg)
|
rs1586821015
|
|
NM_004260.4(RECQL4):c.1107C>T (p.Leu369=)
|
rs773121187
|
|
NM_004260.4(RECQL4):c.1110T>A (p.Arg370=)
|
|
|
NM_004260.4(RECQL4):c.1110T>C (p.Arg370=)
|
rs560961607
|
|
NM_004260.4(RECQL4):c.1111A>G (p.Ser371Gly)
|
|
|
NM_004260.4(RECQL4):c.1116G>A (p.Arg372=)
|
rs779492418
|
|
NM_004260.4(RECQL4):c.1116G>T (p.Arg372Ser)
|
rs779492418
|
|
NM_004260.4(RECQL4):c.1119C>T (p.Leu373=)
|
|
|
NM_004260.4(RECQL4):c.1120C>T (p.Leu374Phe)
|
rs2130715472
|
|
NM_004260.4(RECQL4):c.1122C>T (p.Leu374=)
|
rs1169953082
|
|
NM_004260.4(RECQL4):c.1124G>T (p.Arg375Leu)
|
|
|
NM_004260.4(RECQL4):c.1125C>G (p.Arg375=)
|
rs560231629
|
|
NM_004260.4(RECQL4):c.1125C>T (p.Arg375=)
|
rs560231629
|
|
NM_004260.4(RECQL4):c.1129C>T (p.Gln377Ter)
|
rs372521987
|
|
NM_004260.4(RECQL4):c.112A>C (p.Thr38Pro)
|
|
|
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg)
|
rs944826681
|
|
NM_004260.4(RECQL4):c.1131+10C>T
|
rs545222870
|
|
NM_004260.4(RECQL4):c.1131+11G>A
|
rs369167534
|
|
NM_004260.4(RECQL4):c.1131+11G>C
|
rs369167534
|
|
NM_004260.4(RECQL4):c.1131+13C>T
|
|
|
NM_004260.4(RECQL4):c.1131+14G>C
|
|
|
NM_004260.4(RECQL4):c.1131+15G>A
|
rs1828119581
|
|
NM_004260.4(RECQL4):c.1131+15G>C
|
|
|
NM_004260.4(RECQL4):c.1131+16G>A
|
|
|
NM_004260.4(RECQL4):c.1131+16G>C
|
rs1330763105
|
|
NM_004260.4(RECQL4):c.1131+16G>T
|
rs1330763105
|
|
NM_004260.4(RECQL4):c.1131+17C>T
|
rs2130714925
|
|
NM_004260.4(RECQL4):c.1131+18C>T
|
rs1466282272
|
|
NM_004260.4(RECQL4):c.1131+1G>A
|
rs1050860620
|
|
NM_004260.4(RECQL4):c.1131+20G>A
|
|
|
NM_004260.4(RECQL4):c.1131+2_1131+5del
|
|
|
NM_004260.4(RECQL4):c.1131+3A>G
|
rs1218791786
|
|
NM_004260.4(RECQL4):c.1131+3A>T
|
rs1218791786
|
|
NM_004260.4(RECQL4):c.1131+4A>G
|
rs1828124749
|
|
NM_004260.4(RECQL4):c.1131+7C>T
|
rs1586820647
|
|
NM_004260.4(RECQL4):c.1131+8A>C
|
rs932213064
|
|
NM_004260.4(RECQL4):c.1131+9G>A
|
rs373765596
|
|
NM_004260.4(RECQL4):c.1131+9_1131+12dup
|
rs1564804916
|
|
NM_004260.4(RECQL4):c.1131G>C (p.Gln377His)
|
rs911864123
|
|
NM_004260.4(RECQL4):c.1131_1131+3del
|
rs1060501353
|
|
NM_004260.4(RECQL4):c.1132-10C>A
|
|
|
NM_004260.4(RECQL4):c.1132-11G>C
|
|
|
NM_004260.4(RECQL4):c.1132-13G>A
|
|
|
NM_004260.4(RECQL4):c.1132-16T>C
|
rs1349861607
|
|
NM_004260.4(RECQL4):c.1132-19C>A
|
|
|
NM_004260.4(RECQL4):c.1132-20C>G
|
rs375444239
|
|
NM_004260.4(RECQL4):c.1132-2A>G
|
|
|
NM_004260.4(RECQL4):c.1132-3C>G
|
rs1586819954
|
|
NM_004260.4(RECQL4):c.1132-3del
|
|
|
NM_004260.4(RECQL4):c.1132-5C>T
|
rs756159792
|
|
NM_004260.4(RECQL4):c.1132-6C>T
|
rs2130713970
|
|
NM_004260.4(RECQL4):c.1132-8C>G
|
|
|
NM_004260.4(RECQL4):c.1132-8C>T
|
rs370660188
|
|
NM_004260.4(RECQL4):c.1132-8dup
|
rs747674070
|
|
NM_004260.4(RECQL4):c.1132-9A>G
|
rs1240937063
|
|
NM_004260.4(RECQL4):c.1132G>A (p.Ala378Thr)
|
|
|
NM_004260.4(RECQL4):c.1135T>C (p.Trp379Arg)
|
|
|
NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter)
|
rs1360427319
|
|
NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn)
|
rs1348040384
|
|
NM_004260.4(RECQL4):c.113C>G (p.Thr38Ser)
|
rs1348040384
|
|
NM_004260.4(RECQL4):c.1140G>T (p.Lys380Asn)
|
rs1159732841
|
|
NM_004260.4(RECQL4):c.1143G>C (p.Gln381His)
|
|
|
NM_004260.4(RECQL4):c.1146G>A (p.Lys382=)
|
|
|
NM_004260.4(RECQL4):c.1146G>C (p.Lys382Asn)
|
rs759321310
|
|
NM_004260.4(RECQL4):c.1147T>C (p.Trp383Arg)
|
rs1828094038
|
|
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter)
|
rs1564804479
|
|
NM_004260.4(RECQL4):c.114C>G (p.Thr38=)
|
rs948891282
|
|
NM_004260.4(RECQL4):c.114C>T (p.Thr38=)
|
rs948891282
|
|
NM_004260.4(RECQL4):c.1150C>A (p.Arg384=)
|
rs766026341
|
|
NM_004260.4(RECQL4):c.1150C>G (p.Arg384Gly)
|
rs766026341
|
|
NM_004260.4(RECQL4):c.1151G>T (p.Arg384Leu)
|
rs376045624
|
|
NM_004260.4(RECQL4):c.1152G>A (p.Arg384=)
|
rs1586819812
|
|
NM_004260.4(RECQL4):c.1152G>C (p.Arg384=)
|
|
|
NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg)
|
rs2130713589
|
|
NM_004260.4(RECQL4):c.1158A>G (p.Lys386=)
|
|
|
NM_004260.4(RECQL4):c.115C>A (p.Arg39Ser)
|
rs1815399959
|
|
NM_004260.4(RECQL4):c.1160G>A (p.Gly387Glu)
|
|
|
NM_004260.4(RECQL4):c.1161G>A (p.Gly387=)
|
rs2130713520
|
|
NM_004260.4(RECQL4):c.1162G>T (p.Glu388Ter)
|
rs2130713508
|
|
NM_004260.4(RECQL4):c.1166G>A (p.Cys389Tyr)
|
rs1828090979
|
|
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)
|
rs34134064
|
|
NM_004260.4(RECQL4):c.1169T>C (p.Phe390Ser)
|
rs1586819715
|
|
NM_004260.4(RECQL4):c.1169T>G (p.Phe390Cys)
|
rs1586819715
|
|
NM_004260.4(RECQL4):c.116G>A (p.Arg39His)
|
rs1815399637
|
|
NM_004260.4(RECQL4):c.116G>T (p.Arg39Leu)
|
rs1815399637
|
|
NM_004260.4(RECQL4):c.1172G>C (p.Gly391Ala)
|
rs1225552858
|
|
NM_004260.4(RECQL4):c.1175G>A (p.Gly392Asp)
|
rs745923592
|
|
NM_004260.4(RECQL4):c.1175G>C (p.Gly392Ala)
|
rs745923592
|
|
NM_004260.4(RECQL4):c.1175GTG[2] (p.Gly394del)
|
rs1828087096
|
|
NM_004260.4(RECQL4):c.1176T>C (p.Gly392=)
|
|
|
NM_004260.4(RECQL4):c.1178G>A (p.Gly393Asp)
|
|
|
NM_004260.4(RECQL4):c.1178G>T (p.Gly393Val)
|
|
|
NM_004260.4(RECQL4):c.118+13C>G
|
|
|
NM_004260.4(RECQL4):c.118+13C>T
|
|
|
NM_004260.4(RECQL4):c.118+13_118+14insGCGGCTGG
|
|
|
NM_004260.4(RECQL4):c.118+16G>A
|
|
|
NM_004260.4(RECQL4):c.118+17G>A
|
rs2130743239
|
|
NM_004260.4(RECQL4):c.118+17_118+18delinsAG
|
|
|
NM_004260.4(RECQL4):c.118+18C>T
|
|
|
NM_004260.4(RECQL4):c.118+18_118+25del
|
|
|
NM_004260.4(RECQL4):c.118+2T>C
|
rs1586834813
|
|
NM_004260.4(RECQL4):c.118+3G>A
|
rs1815398834
|
|
NM_004260.4(RECQL4):c.118+3G>T
|
rs1815398834
|
|
NM_004260.4(RECQL4):c.118+4A>C
|
rs775068771
|
|
NM_004260.4(RECQL4):c.118+4A>G
|
|
|
NM_004260.4(RECQL4):c.118+6C>G
|
rs1343975009
|
|
NM_004260.4(RECQL4):c.118+7G>A
|
|
|
NM_004260.4(RECQL4):c.1180G>A (p.Gly394Ser)
|
rs1828087724
|
|
NM_004260.4(RECQL4):c.1181G>T (p.Gly394Val)
|
rs1167568999
|
|
NM_004260.4(RECQL4):c.1182T>A (p.Gly394=)
|
|
|
NM_004260.4(RECQL4):c.1182T>C (p.Gly394=)
|
|
|
NM_004260.4(RECQL4):c.1184C>G (p.Ala395Gly)
|
rs758299060
|
|
NM_004260.4(RECQL4):c.1185C>G (p.Ala395=)
|
rs539629689
|
|
NM_004260.4(RECQL4):c.1186A>G (p.Thr396Ala)
|
rs2130713097
|
|
NM_004260.4(RECQL4):c.1187_1188del (p.Thr396fs)
|
rs1828085910
|
|
NM_004260.4(RECQL4):c.1189G>A (p.Val397Ile)
|
rs867681178
|
|
NM_004260.4(RECQL4):c.118G>A (p.Ala40Thr)
|
|
|
NM_004260.4(RECQL4):c.119-11C>T
|
rs1278855232
|
|
NM_004260.4(RECQL4):c.119-14G>A
|
|
|
NM_004260.4(RECQL4):c.119-15C>G
|
rs764923707
|
|
NM_004260.4(RECQL4):c.119-15C>T
|
|
|
NM_004260.4(RECQL4):c.119-16C>G
|
rs1355840127
|
|
NM_004260.4(RECQL4):c.119-16C>T
|
rs1355840127
|
|
NM_004260.4(RECQL4):c.119-17C>A
|
rs762801950
|
|
NM_004260.4(RECQL4):c.119-17C>G
|
rs762801950
|
|
NM_004260.4(RECQL4):c.119-19C>T
|
|
|
NM_004260.4(RECQL4):c.119-20C>A
|
|
|
NM_004260.4(RECQL4):c.119-20C>T
|
|
|
NM_004260.4(RECQL4):c.119-2A>C
|
rs1815370807
|
|
NM_004260.4(RECQL4):c.119-2A>G
|
|
|
NM_004260.4(RECQL4):c.119-4G>A
|
rs1297467065
|
|
NM_004260.4(RECQL4):c.119-4G>T
|
rs1297467065
|
|
NM_004260.4(RECQL4):c.119-7C>T
|
rs2130741953
|
|
NM_004260.4(RECQL4):c.119-9C>T
|
rs2130741988
|
|
NM_004260.4(RECQL4):c.1191C>T (p.Val397=)
|
rs958341367
|
|
NM_004260.4(RECQL4):c.1192A>C (p.Thr398Pro)
|
rs765190572
|
|
NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys)
|
rs1434143797
|
|
NM_004260.4(RECQL4):c.1193C>T (p.Thr398Ile)
|
rs1434143797
|
|
NM_004260.4(RECQL4):c.1196C>T (p.Thr399Ile)
|
rs1828084287
|
|
NM_004260.4(RECQL4):c.1198A>G (p.Lys400Glu)
|
rs1828083852
|
|
NM_004260.4(RECQL4):c.119C>T (p.Ala40Val)
|
rs1320945281
|
|
NM_004260.4(RECQL4):c.1200G>C (p.Lys400Asn)
|
rs2130712891
|
|
NM_004260.4(RECQL4):c.1201G>A (p.Glu401Lys)
|
|
|
NM_004260.4(RECQL4):c.1202A>G (p.Glu401Gly)
|
rs2130712857
|
|
NM_004260.4(RECQL4):c.1203G>A (p.Glu401=)
|
rs1246094808
|
|
NM_004260.4(RECQL4):c.1203del (p.Glu401fs)
|
rs1220902289
|
|
NM_004260.4(RECQL4):c.1204T>A (p.Ser402Thr)
|
rs2130712812
|
|
NM_004260.4(RECQL4):c.1206T>G (p.Ser402=)
|
rs2130712785
|
|
NM_004260.4(RECQL4):c.1209T>A (p.Cys403Ter)
|
|
|
NM_004260.4(RECQL4):c.120G>T (p.Ala40=)
|
|
|
NM_004260.4(RECQL4):c.1210T>C (p.Phe404Leu)
|
rs1828082019
|
|
NM_004260.4(RECQL4):c.1211_1212delinsCT (p.Phe404Ser)
|
rs2130712707
|
|
NM_004260.4(RECQL4):c.1211del (p.Phe404fs)
|
rs2130712718
|
|
NM_004260.4(RECQL4):c.1212C>T (p.Phe404=)
|
rs766079419
|
|
NM_004260.4(RECQL4):c.1217A>G (p.Asn406Ser)
|
rs1344133538
|
|
NM_004260.4(RECQL4):c.121C>A (p.Leu41Ile)
|
rs776083037
|
|
NM_004260.4(RECQL4):c.121C>T (p.Leu41Phe)
|
rs776083037
|
|
NM_004260.4(RECQL4):c.1220A>C (p.Glu407Ala)
|
rs1564804098
|
|
NM_004260.4(RECQL4):c.1223A>G (p.Gln408Arg)
|
|
|
NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs)
|
rs1586819343
|
|
NM_004260.4(RECQL4):c.1224G>A (p.Gln408=)
|
rs2130712511
|
|
NM_004260.4(RECQL4):c.1227C>G (p.Phe409Leu)
|
rs1060504219
|
|
NM_004260.4(RECQL4):c.1228G>A (p.Asp410Asn)
|
rs558779399
|
|
NM_004260.4(RECQL4):c.1229A>G (p.Asp410Gly)
|
rs1554901692
|
|
NM_004260.4(RECQL4):c.122T>C (p.Leu41Pro)
|
|
|
NM_004260.4(RECQL4):c.1231C>G (p.His411Asp)
|
|
|
NM_004260.4(RECQL4):c.1231C>T (p.His411Tyr)
|
|
|
NM_004260.4(RECQL4):c.1232A>C (p.His411Pro)
|
rs1464725893
|
|
NM_004260.4(RECQL4):c.1233C>T (p.His411=)
|
rs549438457
|
|
NM_004260.4(RECQL4):c.1234T>C (p.Trp412Arg)
|
rs377546182
|
|
NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter)
|
rs1554901674
|
|
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg)
|
rs587778652
|
|
NM_004260.4(RECQL4):c.1238C>A (p.Ala413Glu)
|
|
|
NM_004260.4(RECQL4):c.1241C>T (p.Ala414Val)
|
|
|
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter)
|
rs2130712164
|
|
NM_004260.4(RECQL4):c.1244A>C (p.Gln415Pro)
|
rs1478973162
|
|
NM_004260.4(RECQL4):c.1245G>A (p.Gln415=)
|
rs1248474086
|
|
NM_004260.4(RECQL4):c.1249C>A (p.Pro417Thr)
|
rs1457479453
|
|
NM_004260.4(RECQL4):c.124T>C (p.Tyr42His)
|
|
|
NM_004260.4(RECQL4):c.1252C>A (p.Arg418=)
|
|
|
NM_004260.4(RECQL4):c.1252del (p.Arg418fs)
|
|
|
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln)
|
rs548957135
|
|
NM_004260.4(RECQL4):c.1253G>T (p.Arg418Leu)
|
|
|
NM_004260.4(RECQL4):c.1253_1254delinsAA (p.Arg418Gln)
|
|
|
NM_004260.4(RECQL4):c.1254G>C (p.Arg418=)
|
rs757279290
|
|
NM_004260.4(RECQL4):c.1257A>G (p.Pro419=)
|
rs2130711922
|
|
NM_004260.4(RECQL4):c.1258+10C>T
|
rs1554901592
|
|
NM_004260.4(RECQL4):c.1258+11T>C
|
rs1377154596
|
|
NM_004260.4(RECQL4):c.1258+12G>A
|
|
|
NM_004260.4(RECQL4):c.1258+14C>T
|
rs1332899412
|
|
NM_004260.4(RECQL4):c.1258+18G>C
|
|
|
NM_004260.4(RECQL4):c.1258+1G>A
|
rs2130711906
|
|
NM_004260.4(RECQL4):c.1258+20G>A
|
rs34689258
|
|
NM_004260.4(RECQL4):c.1258+5G>C
|
rs1828073339
|
|
NM_004260.4(RECQL4):c.1258+5_1258+6delinsAT
|
rs2130711870
|
|
NM_004260.4(RECQL4):c.1258+6A>C
|
rs34437789
|
|
NM_004260.4(RECQL4):c.1258+6A>G
|
rs34437789
|
|
NM_004260.4(RECQL4):c.1258+7C>T
|
rs2130711838
|
|
NM_004260.4(RECQL4):c.1258+8A>G
|
rs1554901599
|
|
NM_004260.4(RECQL4):c.1258G>C (p.Ala420Pro)
|
rs2130711913
|
|
NM_004260.4(RECQL4):c.1259-10C>T
|
|
|
NM_004260.4(RECQL4):c.1259-14C>G
|
|
|
NM_004260.4(RECQL4):c.1259-14C>T
|
rs772263907
|
|
NM_004260.4(RECQL4):c.1259-16C>T
|
rs2130709290
|
|
NM_004260.4(RECQL4):c.1259-4C>G
|
rs756804943
|
|
NM_004260.4(RECQL4):c.1259-4C>T
|
rs756804943
|
|
NM_004260.4(RECQL4):c.1259-7G>A
|
rs1828021212
|
|
NM_004260.4(RECQL4):c.1259-9C>T
|
rs1586817767
|
|
NM_004260.4(RECQL4):c.1262G>A (p.Ser421Asn)
|
rs777333651
|
|
NM_004260.4(RECQL4):c.1263T>G (p.Ser421Arg)
|
|
|
NM_004260.4(RECQL4):c.1264G>T (p.Glu422Ter)
|
|
|
NM_004260.4(RECQL4):c.1266G>A (p.Glu422=)
|
rs2130709010
|
|
NM_004260.4(RECQL4):c.1267G>A (p.Glu423Lys)
|
rs1828019195
|
|
NM_004260.4(RECQL4):c.1267G>T (p.Glu423Ter)
|
rs1828019195
|
|
NM_004260.4(RECQL4):c.1269A>G (p.Glu423=)
|
rs2130708978
|
|
NM_004260.4(RECQL4):c.126C>G (p.Tyr42Ter)
|
rs1427556033
|
|
NM_004260.4(RECQL4):c.126C>T (p.Tyr42=)
|
rs1427556033
|
|
NM_004260.4(RECQL4):c.1270G>C (p.Asp424His)
|
rs765611938
|
|
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile)
|
rs2130708945
|
|
NM_004260.4(RECQL4):c.1272C>G (p.Asp424Glu)
|
rs1586817672
|
|
NM_004260.4(RECQL4):c.1272C>T (p.Asp424=)
|
|
|
NM_004260.4(RECQL4):c.1274C>G (p.Thr425Arg)
|
rs1266028485
|
|
NM_004260.4(RECQL4):c.1274C>T (p.Thr425Ile)
|
|
|
NM_004260.4(RECQL4):c.1274_1275del (p.Thr425fs)
|
|
|
NM_004260.4(RECQL4):c.1276G>A (p.Asp426Asn)
|
rs1048010208
|
|
NM_004260.4(RECQL4):c.1278T>C (p.Asp426=)
|
rs2130708837
|
|
NM_004260.4(RECQL4):c.127C>A (p.Arg43=)
|
|
|
NM_004260.4(RECQL4):c.1280C>A (p.Ala427Asp)
|
rs2130708802
|
|
NM_004260.4(RECQL4):c.1281T>C (p.Ala427=)
|
rs1828017595
|
|
NM_004260.4(RECQL4):c.1282G>C (p.Val428Leu)
|
|
|
NM_004260.4(RECQL4):c.1283T>C (p.Val428Ala)
|
|
|
NM_004260.4(RECQL4):c.1285G>A (p.Gly429Arg)
|
rs1828017237
|
|
NM_004260.4(RECQL4):c.1289C>G (p.Pro430Arg)
|
|
|
NM_004260.4(RECQL4):c.1289C>T (p.Pro430Leu)
|
|
|
NM_004260.4(RECQL4):c.128G>A (p.Arg43Gln)
|
rs1169021603
|
|
NM_004260.4(RECQL4):c.128G>T (p.Arg43Leu)
|
rs1169021603
|
|
NM_004260.4(RECQL4):c.1290T>C (p.Pro430=)
|
|
|
NM_004260.4(RECQL4):c.1290T>G (p.Pro430=)
|
|
|
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)
|
rs1828015944
|
|
NM_004260.4(RECQL4):c.1293G>A (p.Glu431=)
|
rs1586817551
|
|
NM_004260.4(RECQL4):c.1298T>G (p.Leu433Arg)
|
|
|
NM_004260.4(RECQL4):c.1299G>C (p.Leu433=)
|
|
|
NM_004260.4(RECQL4):c.129G>A (p.Arg43=)
|
|
|
NM_004260.4(RECQL4):c.1300G>A (p.Val434Ile)
|
rs761938967
|
|
NM_004260.4(RECQL4):c.1303C>G (p.Pro435Ala)
|
|
|
NM_004260.4(RECQL4):c.1304C>T (p.Pro435Leu)
|
rs2130708528
|
|
NM_004260.4(RECQL4):c.1305T>A (p.Pro435=)
|
rs1390022569
|
|
NM_004260.4(RECQL4):c.1305T>C (p.Pro435=)
|
rs1390022569
|
|
NM_004260.4(RECQL4):c.1306T>C (p.Ser436Pro)
|
rs1564803061
|
|
NM_004260.4(RECQL4):c.1307C>T (p.Ser436Leu)
|
rs2130708487
|
|
NM_004260.4(RECQL4):c.1311A>C (p.Pro437=)
|
rs2130708452
|
|
NM_004260.4(RECQL4):c.1312C>G (p.Gln438Glu)
|
|
|
NM_004260.4(RECQL4):c.1314A>G (p.Gln438=)
|
|
|
NM_004260.4(RECQL4):c.1316C>G (p.Pro439Arg)
|
rs1586817456
|
|
NM_004260.4(RECQL4):c.1316C>T (p.Pro439Leu)
|
|
|
NM_004260.4(RECQL4):c.1319T>G (p.Val440Gly)
|
rs1828012949
|
|
NM_004260.4(RECQL4):c.1320A>T (p.Val440=)
|
|
|
NM_004260.4(RECQL4):c.1321C>G (p.Pro441Ala)
|
|
|
NM_004260.4(RECQL4):c.1322C>T (p.Pro441Leu)
|
rs943887894
|
|
NM_004260.4(RECQL4):c.1325A>C (p.Glu442Ala)
|
rs1828012352
|
|
NM_004260.4(RECQL4):c.1327G>A (p.Val443Met)
|
rs375694004
|
|
NM_004260.4(RECQL4):c.1328T>G (p.Val443Gly)
|
rs1554901232
|
|
NM_004260.4(RECQL4):c.1329G>A (p.Val443=)
|
|
|
NM_004260.4(RECQL4):c.1329G>C (p.Val443=)
|
|
|
NM_004260.4(RECQL4):c.1333A>G (p.Ser445Gly)
|
|
|
NM_004260.4(RECQL4):c.1334G>A (p.Ser445Asn)
|
|
|
NM_004260.4(RECQL4):c.1334G>C (p.Ser445Thr)
|
rs747571861
|
|
NM_004260.4(RECQL4):c.1341C>T (p.Asp447=)
|
rs2130708176
|
|
NM_004260.4(RECQL4):c.1342C>G (p.Pro448Ala)
|
rs1586817338
|
|
NM_004260.4(RECQL4):c.1342C>T (p.Pro448Ser)
|
rs1586817338
|
|
NM_004260.4(RECQL4):c.1343C>T (p.Pro448Leu)
|
|
|
NM_004260.4(RECQL4):c.1343_1347del (p.Pro448fs)
|
|
|
NM_004260.4(RECQL4):c.1344C>T (p.Pro448=)
|
|
|
NM_004260.4(RECQL4):c.1345A>G (p.Thr449Ala)
|
rs535692036
|
|
NM_004260.4(RECQL4):c.1346C>A (p.Thr449Asn)
|
rs1828009684
|
|
NM_004260.4(RECQL4):c.1346C>T (p.Thr449Ile)
|
rs1828009684
|
|
NM_004260.4(RECQL4):c.134A>G (p.Tyr45Cys)
|
|
|
NM_004260.4(RECQL4):c.1354C>A (p.Pro452Thr)
|
rs1198908673
|
|
NM_004260.4(RECQL4):c.1355C>T (p.Pro452Leu)
|
|
|
NM_004260.4(RECQL4):c.1356_1357del (p.Tyr454fs)
|
rs2130707964
|
|
NM_004260.4(RECQL4):c.1357C>G (p.Leu453Val)
|
rs754354054
|
|
NM_004260.4(RECQL4):c.1357C>T (p.Leu453Phe)
|
rs754354054
|
|
NM_004260.4(RECQL4):c.1358T>C (p.Leu453Pro)
|
rs766718254
|
|
NM_004260.4(RECQL4):c.135C>G (p.Tyr45Ter)
|
|
|
NM_004260.4(RECQL4):c.135C>T (p.Tyr45=)
|
rs1586833765
|
|
NM_004260.4(RECQL4):c.1364C>T (p.Ser455Phe)
|
rs1586817192
|
|
NM_004260.4(RECQL4):c.1366C>T (p.Leu456=)
|
rs2130707796
|
|
NM_004260.4(RECQL4):c.1367T>C (p.Leu456Pro)
|
rs2130707777
|
|
NM_004260.4(RECQL4):c.1369G>A (p.Gly457Arg)
|
rs750720279
|
|
NM_004260.4(RECQL4):c.136C>G (p.Arg46Gly)
|
|
|
NM_004260.4(RECQL4):c.136C>T (p.Arg46Cys)
|
rs1268307700
|
|
NM_004260.4(RECQL4):c.136_140del (p.Arg46fs)
|
rs2130741439
|
|
NM_004260.4(RECQL4):c.1370G>A (p.Gly457Glu)
|
|
|
NM_004260.4(RECQL4):c.1371G>A (p.Gly457=)
|
|
|
NM_004260.4(RECQL4):c.1375T>C (p.Ser459Pro)
|
rs1828003048
|
|
NM_004260.4(RECQL4):c.1377A>G (p.Ser459=)
|
rs2130707634
|
|
NM_004260.4(RECQL4):c.1377_1378del (p.Gly460fs)
|
|
|
NM_004260.4(RECQL4):c.1379G>A (p.Gly460Glu)
|
rs764224012
|
|
NM_004260.4(RECQL4):c.1382del (p.Gln461fs)
|
rs1564802842
|
|
NM_004260.4(RECQL4):c.1383G>A (p.Gln461=)
|
rs1395093722
|
|
NM_004260.4(RECQL4):c.1386G>A (p.Leu462=)
|
|
|
NM_004260.4(RECQL4):c.1390+12_1390+13delinsAA
|
|
|
NM_004260.4(RECQL4):c.1390+14T>C
|
rs1483677181
|
|
NM_004260.4(RECQL4):c.1390+17T>A
|
|
|
NM_004260.4(RECQL4):c.1390+19G>A
|
|
|
NM_004260.4(RECQL4):c.1390+19G>T
|
|
|
NM_004260.4(RECQL4):c.1390+1G>A
|
|
|
NM_004260.4(RECQL4):c.1390+1G>T
|
rs1085307090
|
|
NM_004260.4(RECQL4):c.1390+20C>G
|
|
|
NM_004260.4(RECQL4):c.1390+2T>C
|
rs2130707477
|
|
NM_004260.4(RECQL4):c.1391-10G>C
|
|
|
NM_004260.4(RECQL4):c.1391-10G>T
|
|
|
NM_004260.4(RECQL4):c.1391-12C>A
|
|
|
NM_004260.4(RECQL4):c.1391-12C>G
|
|
|
NM_004260.4(RECQL4):c.1391-12_1391-11del
|
rs556942149
|
|
NM_004260.4(RECQL4):c.1391-13T>G
|
|
|
NM_004260.4(RECQL4):c.1391-14A>G
|
|
|
NM_004260.4(RECQL4):c.1391-17A>C
|
rs2130706816
|
|
NM_004260.4(RECQL4):c.1391-17A>G
|
|
|
NM_004260.4(RECQL4):c.1391-19T>C
|
|
|
NM_004260.4(RECQL4):c.1391-2A>G
|
rs771839491
|
|
NM_004260.4(RECQL4):c.1391-4G>A
|
|
|
NM_004260.4(RECQL4):c.1391-8G>A
|
rs1827990814
|
|
NM_004260.4(RECQL4):c.1392G>A (p.Glu464=)
|
rs996941890
|
|
NM_004260.4(RECQL4):c.1393A>G (p.Thr465Ala)
|
rs1586816517
|
|
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala)
|
rs562809072
|
|
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser)
|
rs562809072
|
|
NM_004260.4(RECQL4):c.1398G>C (p.Pro466=)
|
rs145615931
|
|
NM_004260.4(RECQL4):c.1399G>A (p.Ala467Thr)
|
rs770371344
|
|
NM_004260.4(RECQL4):c.139A>T (p.Thr47Ser)
|
rs779041769
|
|
NM_004260.4(RECQL4):c.13C>T (p.Arg5Trp)
|
rs557142503
|
|
NM_004260.4(RECQL4):c.1400del (p.Ala467fs)
|
rs1564802464
|
|
NM_004260.4(RECQL4):c.1402G>A (p.Glu468Lys)
|
|
|
NM_004260.4(RECQL4):c.1404G>C (p.Glu468Asp)
|
rs371046973
|
|
NM_004260.4(RECQL4):c.1405G>A (p.Val469Met)
|
|
|
NM_004260.4(RECQL4):c.1409dup (p.Gln471fs)
|
rs1827984994
|
|
NM_004260.4(RECQL4):c.1410C>T (p.Phe470=)
|
rs2130706358
|
|
NM_004260.4(RECQL4):c.1411C>T (p.Gln471Ter)
|
|
|
NM_004260.4(RECQL4):c.1411del (p.Gln471fs)
|
rs2130706345
|
|
NM_004260.4(RECQL4):c.1414_1415delinsTT (p.Ala472Phe)
|
rs1827984088
|
|
NM_004260.4(RECQL4):c.1415C>A (p.Ala472Asp)
|
rs587778653
|
|
NM_004260.4(RECQL4):c.1416C>T (p.Ala472=)
|
rs2130706257
|
|
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)
|
rs587778654
|
|
NM_004260.4(RECQL4):c.1417C>T (p.Leu473=)
|
rs587778654
|
|
NM_004260.4(RECQL4):c.141T>C (p.Thr47=)
|
rs768881967
|
|
NM_004260.4(RECQL4):c.141_144dup (p.Lys49fs)
|
|
|
NM_004260.4(RECQL4):c.1420G>A (p.Glu474Lys)
|
rs2130706215
|
|
NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro)
|
rs1827982877
|
|
NM_004260.4(RECQL4):c.1425G>A (p.Gln475=)
|
rs1263862786
|
|
NM_004260.4(RECQL4):c.1425G>C (p.Gln475His)
|
rs1263862786
|
|
NM_004260.4(RECQL4):c.1429G>A (p.Gly477Arg)
|
|
|
NM_004260.4(RECQL4):c.142C>G (p.Leu48Val)
|
|
|
NM_004260.4(RECQL4):c.1430G>A (p.Gly477Glu)
|
|
|
NM_004260.4(RECQL4):c.1431G>A (p.Gly477=)
|
|
|
NM_004260.4(RECQL4):c.1431del (p.His478fs)
|
|
|
NM_004260.4(RECQL4):c.1432C>A (p.His478Asn)
|
|
|
NM_004260.4(RECQL4):c.1433A>G (p.His478Arg)
|
rs925385244
|
|
NM_004260.4(RECQL4):c.1435C>G (p.Gln479Glu)
|
|
|
NM_004260.4(RECQL4):c.1437A>C (p.Gln479His)
|
rs2130706041
|
|
NM_004260.4(RECQL4):c.1438G>A (p.Ala480Thr)
|
|
|
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp)
|
rs767337200
|
|
NM_004260.4(RECQL4):c.1439C>G (p.Ala480Gly)
|
rs767337200
|
|
NM_004260.4(RECQL4):c.1439C>T (p.Ala480Val)
|
rs767337200
|
|
NM_004260.4(RECQL4):c.1442T>C (p.Phe481Ser)
|
rs1586816237
|
|
NM_004260.4(RECQL4):c.1442T>G (p.Phe481Cys)
|
rs1586816237
|
|
NM_004260.4(RECQL4):c.1443dup (p.Arg482fs)
|
|
|
NM_004260.4(RECQL4):c.1444C>A (p.Arg482Ser)
|
rs573164516
|
|
NM_004260.4(RECQL4):c.1445G>C (p.Arg482Pro)
|
rs751616549
|
|
NM_004260.4(RECQL4):c.1445G>T (p.Arg482Leu)
|
|
|
NM_004260.4(RECQL4):c.1446C>T (p.Arg482=)
|
rs1279339947
|
|
NM_004260.4(RECQL4):c.1447C>G (p.Pro483Ala)
|
|
|
NM_004260.4(RECQL4):c.1447C>T (p.Pro483Ser)
|
|
|
NM_004260.4(RECQL4):c.1448C>T (p.Pro483Leu)
|
|
|
NM_004260.4(RECQL4):c.1451G>A (p.Gly484Glu)
|
|
|
NM_004260.4(RECQL4):c.1452G>A (p.Gly484=)
|
|
|
NM_004260.4(RECQL4):c.1454A>G (p.Gln485Arg)
|
|
|
NM_004260.4(RECQL4):c.1458G>A (p.Glu486=)
|
rs1060504211
|
|
NM_004260.4(RECQL4):c.1463C>T (p.Ala488Val)
|
rs2130705655
|
|
NM_004260.4(RECQL4):c.1464A>G (p.Ala488=)
|
rs557734785
|
|
NM_004260.4(RECQL4):c.1465G>C (p.Val489Leu)
|
rs1250323268
|
|
NM_004260.4(RECQL4):c.1465G>T (p.Val489Phe)
|
|
|
NM_004260.4(RECQL4):c.1468A>T (p.Met490Leu)
|
|
|
NM_004260.4(RECQL4):c.1469T>C (p.Met490Thr)
|
rs1554900934
|
|
NM_004260.4(RECQL4):c.146A>G (p.Lys49Arg)
|
|
|
NM_004260.4(RECQL4):c.1470G>C (p.Met490Ile)
|
rs1464951222
|
|
NM_004260.4(RECQL4):c.1474A>G (p.Ile492Val)
|
rs1564802069
|
|
NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro)
|
rs1245043798
|
|
NM_004260.4(RECQL4):c.1479G>A (p.Leu493=)
|
|
|
NM_004260.4(RECQL4):c.147G>A (p.Lys49=)
|
rs1815360727
|
|
NM_004260.4(RECQL4):c.147G>C (p.Lys49Asn)
|
rs1815360727
|
|
NM_004260.4(RECQL4):c.1481C>T (p.Ser494Phe)
|
|
|
NM_004260.4(RECQL4):c.1483+10G>C
|
rs1827967891
|
|
NM_004260.4(RECQL4):c.1483+11C>T
|
|
|
NM_004260.4(RECQL4):c.1483+14C>T
|
|
|
NM_004260.4(RECQL4):c.1483+15C>A
|
|
|
NM_004260.4(RECQL4):c.1483+16A>G
|
|
|
NM_004260.4(RECQL4):c.1483+1G>A
|
rs1827970204
|
|
NM_004260.4(RECQL4):c.1483+20C>T
|
|
|
NM_004260.4(RECQL4):c.1483+3G>T
|
rs771224692
|
|
NM_004260.4(RECQL4):c.1483+4A>C
|
rs962228942
|
|
NM_004260.4(RECQL4):c.1483+6C>G
|
|
|
NM_004260.4(RECQL4):c.1483+7G>C
|
rs373192242
|
|
NM_004260.4(RECQL4):c.1483+9G>A
|
|
|
NM_004260.4(RECQL4):c.1483G>C (p.Gly495Arg)
|
|
|
NM_004260.4(RECQL4):c.1484-11G>A
|
rs376242705
|
|
NM_004260.4(RECQL4):c.1484-11G>C
|
rs376242705
|
|
NM_004260.4(RECQL4):c.1484-13C>A
|
|
|
NM_004260.4(RECQL4):c.1484-13C>T
|
|
|
NM_004260.4(RECQL4):c.1484-14C>G
|
|
|
NM_004260.4(RECQL4):c.1484-14C>T
|
rs1457491900
|
|
NM_004260.4(RECQL4):c.1484-16C>T
|
|
|
NM_004260.4(RECQL4):c.1484-20C>A
|
|
|
NM_004260.4(RECQL4):c.1484-20C>T
|
|
|
NM_004260.4(RECQL4):c.1484-4C>G
|
rs777310447
|
|
NM_004260.4(RECQL4):c.1484-7C>T
|
rs2130704577
|
|
NM_004260.4(RECQL4):c.1484-7del
|
rs772909792
|
|
NM_004260.4(RECQL4):c.1484-8C>A
|
rs1235697567
|
|
NM_004260.4(RECQL4):c.1484-9C>G
|
|
|
NM_004260.4(RECQL4):c.1484-9C>T
|
rs1278596077
|
|
NM_004260.4(RECQL4):c.1486A>T (p.Ile496Phe)
|
rs2130704497
|
|
NM_004260.4(RECQL4):c.1487T>G (p.Ile496Ser)
|
|
|
NM_004260.4(RECQL4):c.1488C>T (p.Ile496=)
|
rs1358382637
|
|
NM_004260.4(RECQL4):c.148C>T (p.Arg50Cys)
|
rs1325079305
|
|
NM_004260.4(RECQL4):c.1490C>A (p.Ser497Tyr)
|
rs1586815479
|
|
NM_004260.4(RECQL4):c.1490C>G (p.Ser497Cys)
|
rs1586815479
|
|
NM_004260.4(RECQL4):c.1491C>A (p.Ser497=)
|
|
|
NM_004260.4(RECQL4):c.1491C>T (p.Ser497=)
|
rs369306389
|
|
NM_004260.4(RECQL4):c.1492A>G (p.Thr498Ala)
|
|
|
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=)
|
rs557281237
|
|
NM_004260.4(RECQL4):c.1494G>C (p.Thr498=)
|
rs557281237
|
|
NM_004260.4(RECQL4):c.1494G>T (p.Thr498=)
|
rs557281237
|
|
NM_004260.4(RECQL4):c.1497G>T (p.Leu499=)
|
rs749324210
|
|
NM_004260.4(RECQL4):c.14G>A (p.Arg5Gln)
|
rs1815447241
|
|
NM_004260.4(RECQL4):c.14G>T (p.Arg5Leu)
|
rs1815447241
|
|
NM_004260.4(RECQL4):c.14_34del (p.Arg5_Leu11del)
|
rs1445577376
|
|
NM_004260.4(RECQL4):c.14_34dup (p.Arg5_Leu11dup)
|
rs1445577376
|
|
NM_004260.4(RECQL4):c.1505T>G (p.Leu502Arg)
|
|
|
NM_004260.4(RECQL4):c.1506G>A (p.Leu502=)
|
|
|
NM_004260.4(RECQL4):c.1507C>G (p.Pro503Ala)
|
rs2130704218
|
|
NM_004260.4(RECQL4):c.1512A>G (p.Thr504=)
|
rs1586815342
|
|
NM_004260.4(RECQL4):c.1514G>A (p.Gly505Asp)
|
rs1004394987
|
|
NM_004260.4(RECQL4):c.1514G>C (p.Gly505Ala)
|
rs1004394987
|
|
NM_004260.4(RECQL4):c.1516G>A (p.Ala506Thr)
|
|
|
NM_004260.4(RECQL4):c.1516G>C (p.Ala506Pro)
|
rs1473530499
|
|
NM_004260.4(RECQL4):c.1518C>A (p.Ala506=)
|
rs757280460
|
|
NM_004260.4(RECQL4):c.1518C>G (p.Ala506=)
|
rs757280460
|
|
NM_004260.4(RECQL4):c.1520G>A (p.Gly507Asp)
|
|
|
NM_004260.4(RECQL4):c.1521C>G (p.Gly507=)
|
rs763993982
|
|
NM_004260.4(RECQL4):c.1529T>C (p.Leu510Pro)
|
rs1564801649
|
|
NM_004260.4(RECQL4):c.152C>T (p.Thr51Ile)
|
rs1308346776
|
|
NM_004260.4(RECQL4):c.1530G>A (p.Leu510=)
|
|
|
NM_004260.4(RECQL4):c.1531T>G (p.Cys511Gly)
|
rs1226284707
|
|
NM_004260.4(RECQL4):c.1533C>T (p.Cys511=)
|
rs764945119
|
|
NM_004260.4(RECQL4):c.1535A>G (p.Tyr512Cys)
|
rs2130703806
|
|
NM_004260.4(RECQL4):c.1536C>T (p.Tyr512=)
|
|
|
NM_004260.4(RECQL4):c.1539G>C (p.Gln513His)
|
rs1358624560
|
|
NM_004260.4(RECQL4):c.1539G>T (p.Gln513His)
|
|
|
NM_004260.4(RECQL4):c.153C>T (p.Thr51=)
|
|
|
NM_004260.4(RECQL4):c.1542C>A (p.Leu514=)
|
|
|
NM_004260.4(RECQL4):c.1542C>G (p.Leu514=)
|
|
|
NM_004260.4(RECQL4):c.1544C>G (p.Pro515Arg)
|
rs1260540483
|
|
NM_004260.4(RECQL4):c.1545A>G (p.Pro515=)
|
rs773560213
|
|
NM_004260.4(RECQL4):c.1547C>G (p.Ala516Gly)
|
|
|
NM_004260.4(RECQL4):c.1547C>T (p.Ala516Val)
|
rs762113412
|
|
NM_004260.4(RECQL4):c.1549C>T (p.Leu517=)
|
|
|
NM_004260.4(RECQL4):c.1551G>A (p.Leu517=)
|
|
|
NM_004260.4(RECQL4):c.1552_1553delinsGC (p.Leu518Ala)
|
rs1827944394
|
|
NM_004260.4(RECQL4):c.1553T>C (p.Leu518Pro)
|
rs2130703525
|
|
NM_004260.4(RECQL4):c.1554C>G (p.Leu518=)
|
|
|
NM_004260.4(RECQL4):c.1555_1560del (p.Tyr519_Ser520del)
|
rs1210416985
|
|
NM_004260.4(RECQL4):c.1556A>C (p.Tyr519Ser)
|
rs1038685366
|
|
NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys)
|
rs1038685366
|
|
NM_004260.4(RECQL4):c.1558A>G (p.Ser520Gly)
|
rs1827943643
|
|
NM_004260.4(RECQL4):c.1559G>C (p.Ser520Thr)
|
rs936553682
|
|
NM_004260.4(RECQL4):c.1559G>T (p.Ser520Ile)
|
|
|
NM_004260.4(RECQL4):c.155C>T (p.Thr52Met)
|
rs878854641
|
|
NM_004260.4(RECQL4):c.1561del (p.Arg521fs)
|
rs2130703373
|
|
NM_004260.4(RECQL4):c.1562G>C (p.Arg521Pro)
|
|
|
NM_004260.4(RECQL4):c.1563G>A (p.Arg521=)
|
|
|
NM_004260.4(RECQL4):c.1568G>A (p.Ser523Asn)
|
rs754735053
|
|
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr)
|
rs754735053
|
|
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)
|
rs1060501383
|
|
NM_004260.4(RECQL4):c.1569C>T (p.Ser523=)
|
rs1586814779
|
|
NM_004260.4(RECQL4):c.156G>A (p.Thr52=)
|
rs1399978369
|
|
NM_004260.4(RECQL4):c.156G>C (p.Thr52=)
|
rs1399978369
|
|
NM_004260.4(RECQL4):c.1570C>A (p.Pro524Thr)
|
|
|
NM_004260.4(RECQL4):c.1572C>G (p.Pro524=)
|
|
|
NM_004260.4(RECQL4):c.1573T>G (p.Cys525Gly)
|
|
|
NM_004260.4(RECQL4):c.1573delinsCCCCC (p.Cys525fs)
|
|
|
NM_004260.4(RECQL4):c.1574G>C (p.Cys525Ser)
|
rs2130703120
|
|
NM_004260.4(RECQL4):c.1575C>G (p.Cys525Trp)
|
rs1318317428
|
|
NM_004260.4(RECQL4):c.1578del (p.Thr527fs)
|
|
|
NM_004260.4(RECQL4):c.157G>A (p.Gly53Ser)
|
rs1171989536
|
|
NM_004260.4(RECQL4):c.1580C>T (p.Thr527Met)
|
rs766354337
|
|
NM_004260.4(RECQL4):c.1582T>C (p.Leu528=)
|
rs1586814566
|
|
NM_004260.4(RECQL4):c.1583del (p.Leu528fs)
|
rs1564801266
|
|
NM_004260.4(RECQL4):c.1584G>C (p.Leu528Phe)
|
|
|
NM_004260.4(RECQL4):c.1585GTC[3] (p.Val530dup)
|
rs778439963
|
|
NM_004260.4(RECQL4):c.1587C>G (p.Val529=)
|
rs767967343
|
|
NM_004260.4(RECQL4):c.1588G>A (p.Val530Ile)
|
rs1554900626
|
|
NM_004260.4(RECQL4):c.158G>C (p.Gly53Ala)
|
rs1381844543
|
|
NM_004260.4(RECQL4):c.158G>T (p.Gly53Val)
|
rs1381844543
|
|
NM_004260.4(RECQL4):c.1592C>A (p.Ser531Tyr)
|
rs774637277
|
|
NM_004260.4(RECQL4):c.1593T>C (p.Ser531=)
|
rs1273482820
|
|
NM_004260.4(RECQL4):c.1594C>T (p.Pro532Ser)
|
|
|
NM_004260.4(RECQL4):c.1595C>T (p.Pro532Leu)
|
rs1827933646
|
|
NM_004260.4(RECQL4):c.1597C>G (p.Leu533Val)
|
rs769939735
|
|
NM_004260.4(RECQL4):c.15G>A (p.Arg5=)
|
rs1385976283
|
|
NM_004260.4(RECQL4):c.1601T>C (p.Leu534Pro)
|
rs1309254569
|
|
NM_004260.4(RECQL4):c.1602G>A (p.Leu534=)
|
|
|
NM_004260.4(RECQL4):c.1603T>C (p.Ser535Pro)
|
rs777773509
|
|
NM_004260.4(RECQL4):c.1608C>A (p.Leu536=)
|
rs772078220
|
|
NM_004260.4(RECQL4):c.1610T>C (p.Met537Thr)
|
|
|
NM_004260.4(RECQL4):c.1614T>C (p.Asp538=)
|
rs563786469
|
|
NM_004260.4(RECQL4):c.1614T>G (p.Asp538Glu)
|
rs563786469
|
|
NM_004260.4(RECQL4):c.1614_1620+14del
|
|
|
NM_004260.4(RECQL4):c.1615G>C (p.Asp539His)
|
rs1219418730
|
|
NM_004260.4(RECQL4):c.1618C>T (p.Gln540Ter)
|
|
|
NM_004260.4(RECQL4):c.1619A>C (p.Gln540Pro)
|
rs754788555
|
|
NM_004260.4(RECQL4):c.1619A>G (p.Gln540Arg)
|
rs754788555
|
|
NM_004260.4(RECQL4):c.161A>C (p.Gln54Pro)
|
rs35198096
|
|
NM_004260.4(RECQL4):c.1620+10C>T
|
|
|
NM_004260.4(RECQL4):c.1620+12G>A
|
|
|
NM_004260.4(RECQL4):c.1620+15C>A
|
rs762377220
|
|
NM_004260.4(RECQL4):c.1620+16C>A
|
|
|
NM_004260.4(RECQL4):c.1620+19G>A
|
|
|
NM_004260.4(RECQL4):c.1620+19G>C
|
|
|
NM_004260.4(RECQL4):c.1620+19G>T
|
|
|
NM_004260.4(RECQL4):c.1620+1G>A
|
rs2130702516
|
|
NM_004260.4(RECQL4):c.1620+20G>A
|
|
|
NM_004260.4(RECQL4):c.1620+20G>T
|
|
|
NM_004260.4(RECQL4):c.1620+3G>C
|
rs1827929677
|
|
NM_004260.4(RECQL4):c.1620+5G>A
|
rs1375331593
|
|
NM_004260.4(RECQL4):c.1620+5_1620+6dup
|
rs1554900517
|
|
NM_004260.4(RECQL4):c.1620+6C>T
|
rs753574521
|
|
NM_004260.4(RECQL4):c.1620+9del
|
rs1586814252
|
|
NM_004260.4(RECQL4):c.1620G>A (p.Gln540=)
|
rs1827929982
|
|
NM_004260.4(RECQL4):c.1620G>C (p.Gln540His)
|
rs1827929982
|
|
NM_004260.4(RECQL4):c.1621-11T>C
|
|
|
NM_004260.4(RECQL4):c.1621-11T>G
|
rs1827867296
|
|
NM_004260.4(RECQL4):c.1621-12C>T
|
rs376436364
|
|
NM_004260.4(RECQL4):c.1621-13C>A
|
|
|
NM_004260.4(RECQL4):c.1621-13C>T
|
|
|
NM_004260.4(RECQL4):c.1621-15C>G
|
|
|
NM_004260.4(RECQL4):c.1621-16_1621-15delinsAT
|
rs2130699243
|
|
NM_004260.4(RECQL4):c.1621-17C>G
|
rs769603253
|
|
NM_004260.4(RECQL4):c.1621-19G>C
|
|
|
NM_004260.4(RECQL4):c.1621-20T>C
|
|
|
NM_004260.4(RECQL4):c.1621-2A>G
|
|
|
NM_004260.4(RECQL4):c.1621-3C>G
|
rs1827866210
|
|
NM_004260.4(RECQL4):c.1621-3C>T
|
|
|
NM_004260.4(RECQL4):c.1621-4G>A
|
rs765558442
|
|
NM_004260.4(RECQL4):c.1621-4G>T
|
rs765558442
|
|
NM_004260.4(RECQL4):c.1621-5T>A
|
rs2130699130
|
|
NM_004260.4(RECQL4):c.1621-6T>A
|
rs2130699137
|
|
NM_004260.4(RECQL4):c.1621G>A (p.Val541Met)
|
rs1827866032
|
|
NM_004260.4(RECQL4):c.1621G>C (p.Val541Leu)
|
rs1827866032
|
|
NM_004260.4(RECQL4):c.1626T>G (p.Ser542=)
|
rs754134346
|
|
NM_004260.4(RECQL4):c.1627G>A (p.Gly543Ser)
|
rs1193351573
|
|
NM_004260.4(RECQL4):c.1629C>T (p.Gly543=)
|
|
|
NM_004260.4(RECQL4):c.162G>A (p.Gln54=)
|
rs1815354847
|
|
NM_004260.4(RECQL4):c.162G>T (p.Gln54His)
|
|
|
NM_004260.4(RECQL4):c.1630C>T (p.Leu544=)
|
rs760836827
|
|
NM_004260.4(RECQL4):c.1631dup (p.Pro545fs)
|
rs2130698955
|
|
NM_004260.4(RECQL4):c.1632G>A (p.Leu544=)
|
rs1586812176
|
|
NM_004260.4(RECQL4):c.1633C>T (p.Pro545Ser)
|
rs1398698946
|
|
NM_004260.4(RECQL4):c.1634C>T (p.Pro545Leu)
|
rs2130698914
|
|
NM_004260.4(RECQL4):c.1635A>G (p.Pro545=)
|
rs563366558
|
|
NM_004260.4(RECQL4):c.1635_1637del (p.Pro546del)
|
rs1827863465
|
|
NM_004260.4(RECQL4):c.1637C>G (p.Pro546Arg)
|
rs377298374
|
|
NM_004260.4(RECQL4):c.1638G>T (p.Pro546=)
|
rs775478350
|
|
NM_004260.4(RECQL4):c.163_164delinsTT (p.Ala55Phe)
|
rs1815354359
|
|
NM_004260.4(RECQL4):c.1645A>G (p.Lys549Glu)
|
rs542466006
|
|
NM_004260.4(RECQL4):c.1646A>G (p.Lys549Arg)
|
rs1827862355
|
|
NM_004260.4(RECQL4):c.1647G>C (p.Lys549Asn)
|
rs371972881
|
|
NM_004260.4(RECQL4):c.1648G>A (p.Ala550Thr)
|
|
|
NM_004260.4(RECQL4):c.1649C>G (p.Ala550Gly)
|
rs764297840
|
|
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val)
|
rs764297840
|
|
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs)
|
rs786200887
|
|
NM_004260.4(RECQL4):c.1651G>A (p.Ala551Thr)
|
|
|
NM_004260.4(RECQL4):c.1651del (p.Ala551fs)
|
|
|
NM_004260.4(RECQL4):c.1652C>A (p.Ala551Asp)
|
rs587778643
|
|
NM_004260.4(RECQL4):c.1652C>G (p.Ala551Gly)
|
rs587778643
|
|
NM_004260.4(RECQL4):c.1657A>G (p.Ile553Val)
|
|
|
NM_004260.4(RECQL4):c.1661A>T (p.His554Leu)
|
rs779426316
|
|
NM_004260.4(RECQL4):c.1664C>G (p.Ser555Trp)
|
|
|
NM_004260.4(RECQL4):c.1665G>C (p.Ser555=)
|
|
|
NM_004260.4(RECQL4):c.1666G>A (p.Gly556Ser)
|
rs756459145
|
|
NM_004260.4(RECQL4):c.1667G>T (p.Gly556Val)
|
rs575020739
|
|
NM_004260.4(RECQL4):c.1668C>T (p.Gly556=)
|
rs1339382948
|
|
NM_004260.4(RECQL4):c.1669A>T (p.Met557Leu)
|
rs1270237157
|
|
NM_004260.4(RECQL4):c.166G>T (p.Gly56Cys)
|
rs777837612
|
|
NM_004260.4(RECQL4):c.1670T>C (p.Met557Thr)
|
rs1432340675
|
|
NM_004260.4(RECQL4):c.1671G>A (p.Met557Ile)
|
rs1564800052
|
|
NM_004260.4(RECQL4):c.1673C>T (p.Thr558Ile)
|
|
|
NM_004260.4(RECQL4):c.1676G>A (p.Arg559Lys)
|
rs1324762406
|
|
NM_004260.4(RECQL4):c.1676G>C (p.Arg559Thr)
|
rs1324762406
|
|
NM_004260.4(RECQL4):c.1677G>C (p.Arg559Ser)
|
rs750667308
|
|
NM_004260.4(RECQL4):c.1682A>T (p.Gln561Leu)
|
rs2130698329
|
|
NM_004260.4(RECQL4):c.1686G>A (p.Arg562=)
|
rs2130698251
|
|
NM_004260.4(RECQL4):c.1687G>T (p.Glu563Ter)
|
rs1416634281
|
|
NM_004260.4(RECQL4):c.1692T>C (p.Ser564=)
|
rs2130698188
|
|
NM_004260.4(RECQL4):c.1695C>T (p.Val565=)
|
rs577547011
|
|
NM_004260.4(RECQL4):c.1698G>A (p.Leu566=)
|
rs2130698108
|
|
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)
|
rs770709355
|
|
NM_004260.4(RECQL4):c.16G>T (p.Asp6Tyr)
|
|
|
NM_004260.4(RECQL4):c.1700A>C (p.Gln567Pro)
|
rs2130698088
|
|
NM_004260.4(RECQL4):c.1701G>C (p.Gln567His)
|
|
|
NM_004260.4(RECQL4):c.1702A>G (p.Lys568Glu)
|
rs1222844262
|
|
NM_004260.4(RECQL4):c.1704+10T>A
|
|
|
NM_004260.4(RECQL4):c.1704+12A>C
|
|
|
NM_004260.4(RECQL4):c.1704+12A>G
|
|
|
NM_004260.4(RECQL4):c.1704+13T>C
|
|
|
NM_004260.4(RECQL4):c.1704+15_1704+16del
|
|
|
NM_004260.4(RECQL4):c.1704+16G>A
|
|
|
NM_004260.4(RECQL4):c.1704+16del
|
|
|
NM_004260.4(RECQL4):c.1704+17C>T
|
|
|
NM_004260.4(RECQL4):c.1704+1G>A
|
rs760363252
|
|
NM_004260.4(RECQL4):c.1704+20del
|
rs2130697797
|
|
NM_004260.4(RECQL4):c.1704+2T>G
|
|
|
NM_004260.4(RECQL4):c.1704+3G>A
|
rs1210896009
|
|
NM_004260.4(RECQL4):c.1704+3G>T
|
|
|
NM_004260.4(RECQL4):c.1704+4G>A
|
|
|
NM_004260.4(RECQL4):c.1704+5G>A
|
rs771504530
|
|
NM_004260.4(RECQL4):c.1704+6G>T
|
rs747653079
|
|
NM_004260.4(RECQL4):c.1704+7G>A
|
rs2130697967
|
|
NM_004260.4(RECQL4):c.1705-10C>G
|
rs758453166
|
|
NM_004260.4(RECQL4):c.1705-10C>T
|
|
|
NM_004260.4(RECQL4):c.1705-11G>C
|
|
|
NM_004260.4(RECQL4):c.1705-11G>T
|
|
|
NM_004260.4(RECQL4):c.1705-14C>A
|
|
|
NM_004260.4(RECQL4):c.1705-14C>G
|
|
|
NM_004260.4(RECQL4):c.1705-14C>T
|
|
|
NM_004260.4(RECQL4):c.1705-16A>C
|
rs181952228
|
|
NM_004260.4(RECQL4):c.1705-16A>G
|
rs181952228
|
|
NM_004260.4(RECQL4):c.1705-17G>A
|
rs770316335
|
|
NM_004260.4(RECQL4):c.1705-17G>C
|
|
|
NM_004260.4(RECQL4):c.1705-18T>C
|
rs568261148
|
|
NM_004260.4(RECQL4):c.1705-19C>G
|
|
|
NM_004260.4(RECQL4):c.1705-19C>T
|
rs1373712549
|
|
NM_004260.4(RECQL4):c.1705-1G>A
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1G>C
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1del
|
|
|
NM_004260.4(RECQL4):c.1705-20T>C
|
rs1222852689
|
|
NM_004260.4(RECQL4):c.1705-23_1705-7dup
|
rs749752883
|
|
NM_004260.4(RECQL4):c.1705-6C>T
|
rs1554899989
|
|
NM_004260.4(RECQL4):c.1705-7C>A
|
rs1377388737
|
|
NM_004260.4(RECQL4):c.1705-8G>A
|
rs2130697169
|
|
NM_004260.4(RECQL4):c.1705-8G>C
|
rs2130697169
|
|
NM_004260.4(RECQL4):c.1705-9T>C
|
rs753794303
|
|
NM_004260.4(RECQL4):c.1705A>G (p.Ile569Val)
|
rs2130697073
|
|
NM_004260.4(RECQL4):c.1708C>G (p.Arg570Gly)
|
rs373178405
|
|
NM_004260.4(RECQL4):c.170G>A (p.Gly57Asp)
|
|
|
NM_004260.4(RECQL4):c.1711dup (p.Ala571fs)
|
|
|
NM_004260.4(RECQL4):c.1714G>A (p.Ala572Thr)
|
rs1189301415
|
|
NM_004260.4(RECQL4):c.1715C>T (p.Ala572Val)
|
|
|
NM_004260.4(RECQL4):c.1716C>T (p.Ala572=)
|
rs1586811066
|
|
NM_004260.4(RECQL4):c.1718A>G (p.Gln573Arg)
|
rs2130696913
|
|
NM_004260.4(RECQL4):c.1719G>A (p.Gln573=)
|
rs1486328195
|
|
NM_004260.4(RECQL4):c.1720G>C (p.Val574Leu)
|
|
|
NM_004260.4(RECQL4):c.1723C>G (p.His575Asp)
|
rs1214615126
|
|
NM_004260.4(RECQL4):c.1724A>G (p.His575Arg)
|
|
|
NM_004260.4(RECQL4):c.1726G>T (p.Val576Leu)
|
rs570331496
|
|
NM_004260.4(RECQL4):c.1726_1731dup (p.Val576_Leu577dup)
|
rs1354602225
|
|
NM_004260.4(RECQL4):c.1727T>C (p.Val576Ala)
|
|
|
NM_004260.4(RECQL4):c.1729C>T (p.Leu577=)
|
rs973513805
|
|
NM_004260.4(RECQL4):c.172G>A (p.Gly58Arg)
|
|
|
NM_004260.4(RECQL4):c.1731G>A (p.Leu577=)
|
|
|
NM_004260.4(RECQL4):c.1733T>C (p.Met578Thr)
|
rs1293785230
|
|
NM_004260.4(RECQL4):c.1733T>G (p.Met578Arg)
|
|
|
NM_004260.4(RECQL4):c.1734G>A (p.Met578Ile)
|
rs1416552093
|
|
NM_004260.4(RECQL4):c.1735C>A (p.Leu579Met)
|
|
|
NM_004260.4(RECQL4):c.1735C>T (p.Leu579=)
|
rs552226907
|
|
NM_004260.4(RECQL4):c.1737G>A (p.Leu579=)
|
rs2130696653
|
|
NM_004260.4(RECQL4):c.1738A>C (p.Thr580Pro)
|
rs1827837140
|
|
NM_004260.4(RECQL4):c.1739C>T (p.Thr580Ile)
|
|
|
NM_004260.4(RECQL4):c.173G>A (p.Gly58Glu)
|
|
|
NM_004260.4(RECQL4):c.173G>C (p.Gly58Ala)
|
rs1008942429
|
|
NM_004260.4(RECQL4):c.1740A>G (p.Thr580=)
|
|
|
NM_004260.4(RECQL4):c.1741C>T (p.Pro581Ser)
|
rs776147492
|
|
NM_004260.4(RECQL4):c.1742C>G (p.Pro581Arg)
|
|
|
NM_004260.4(RECQL4):c.1742C>T (p.Pro581Leu)
|
|
|
NM_004260.4(RECQL4):c.1743T>C (p.Pro581=)
|
|
|
NM_004260.4(RECQL4):c.1743T>G (p.Pro581=)
|
|
|
NM_004260.4(RECQL4):c.1749A>G (p.Ala583=)
|
rs1586810852
|
|
NM_004260.4(RECQL4):c.1750C>A (p.Leu584Met)
|
rs2130696442
|
|
NM_004260.4(RECQL4):c.1750C>G (p.Leu584Val)
|
rs2130696442
|
|
NM_004260.4(RECQL4):c.1751TGG[1] (p.Val585del)
|
rs2130696350
|
|
NM_004260.4(RECQL4):c.1753G>C (p.Val585Leu)
|
|
|
NM_004260.4(RECQL4):c.1753G>T (p.Val585Leu)
|
rs770367395
|
|
NM_004260.4(RECQL4):c.1754T>C (p.Val585Ala)
|
rs927576418
|
|
NM_004260.4(RECQL4):c.1755G>A (p.Val585=)
|
rs539370260
|
|
NM_004260.4(RECQL4):c.1755G>C (p.Val585=)
|
rs539370260
|
|
NM_004260.4(RECQL4):c.1756G>T (p.Gly586Trp)
|
rs878854643
|
|
NM_004260.4(RECQL4):c.1758G>A (p.Gly586=)
|
|
|
NM_004260.4(RECQL4):c.1759G>A (p.Ala587Thr)
|
rs1586810759
|
|
NM_004260.4(RECQL4):c.1759G>C (p.Ala587Pro)
|
rs1586810759
|
|
NM_004260.4(RECQL4):c.1759G>T (p.Ala587Ser)
|
|
|
NM_004260.4(RECQL4):c.1759del (p.Ala587fs)
|
rs1564799470
|
|
NM_004260.4(RECQL4):c.175C>A (p.Leu59Ile)
|
rs752508496
|
|
NM_004260.4(RECQL4):c.1760C>A (p.Ala587Glu)
|
rs747307935
|
|
NM_004260.4(RECQL4):c.1763G>C (p.Gly588Ala)
|
|
|
NM_004260.4(RECQL4):c.1764A>T (p.Gly588=)
|
rs2130696147
|
|
NM_004260.4(RECQL4):c.1765G>A (p.Gly589Ser)
|
rs1060501364
|
|
NM_004260.4(RECQL4):c.1766G>A (p.Gly589Asp)
|
rs1586810698
|
|
NM_004260.4(RECQL4):c.1766G>C (p.Gly589Ala)
|
rs1586810698
|
|
NM_004260.4(RECQL4):c.1769T>C (p.Leu590Pro)
|
rs772166765
|
|
NM_004260.4(RECQL4):c.1769T>G (p.Leu590Arg)
|
rs772166765
|
|
NM_004260.4(RECQL4):c.176T>C (p.Leu59Pro)
|
rs1815350597
|
|
NM_004260.4(RECQL4):c.1770C>G (p.Leu590=)
|
rs377398995
|
|
NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs)
|
rs780542343
|
|
NM_004260.4(RECQL4):c.1771C>A (p.Pro591Thr)
|
rs909777665
|
|
NM_004260.4(RECQL4):c.1771C>T (p.Pro591Ser)
|
rs909777665
|
|
NM_004260.4(RECQL4):c.1772C>A (p.Pro591His)
|
rs2721191
|
|
NM_004260.4(RECQL4):c.1772C>G (p.Pro591Arg)
|
rs2721191
|
|
NM_004260.4(RECQL4):c.1774C>G (p.Pro592Ala)
|
|
|
NM_004260.4(RECQL4):c.1775C>T (p.Pro592Leu)
|
rs951288456
|
|
NM_004260.4(RECQL4):c.1778C>A (p.Ala593Asp)
|
rs1286553686
|
|
NM_004260.4(RECQL4):c.1778C>G (p.Ala593Gly)
|
rs1286553686
|
|
NM_004260.4(RECQL4):c.1778C>T (p.Ala593Val)
|
|
|
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=)
|
rs369939552
|
|
NM_004260.4(RECQL4):c.1779C>G (p.Ala593=)
|
|
|
NM_004260.4(RECQL4):c.177C>G (p.Leu59=)
|
rs764832986
|
|
NM_004260.4(RECQL4):c.177C>T (p.Leu59=)
|
rs764832986
|
|
NM_004260.4(RECQL4):c.1783C>G (p.Gln595Glu)
|
rs1018200211
|
|
NM_004260.4(RECQL4):c.1785G>A (p.Gln595=)
|
|
|
NM_004260.4(RECQL4):c.1786C>A (p.Leu596Met)
|
rs2130695683
|
|
NM_004260.4(RECQL4):c.1787T>C (p.Leu596Pro)
|
rs1827827905
|
|
NM_004260.4(RECQL4):c.178C>T (p.Arg60Cys)
|
|
|
NM_004260.4(RECQL4):c.178del (p.Arg60fs)
|
|
|
NM_004260.4(RECQL4):c.1790C>T (p.Pro597Leu)
|
rs1586810446
|
|
NM_004260.4(RECQL4):c.1792C>G (p.Pro598Ala)
|
rs1827827255
|
|
NM_004260.4(RECQL4):c.1792C>T (p.Pro598Ser)
|
rs1827827255
|
|
NM_004260.4(RECQL4):c.1793C>G (p.Pro598Arg)
|
rs1010524385
|
|
NM_004260.4(RECQL4):c.1793C>T (p.Pro598Leu)
|
|
|
NM_004260.4(RECQL4):c.1795G>A (p.Val599Ile)
|
|
|
NM_004260.4(RECQL4):c.1796T>C (p.Val599Ala)
|
|
|
NM_004260.4(RECQL4):c.1798G>A (p.Ala600Thr)
|
|
|
NM_004260.4(RECQL4):c.1798G>C (p.Ala600Pro)
|
|
|
NM_004260.4(RECQL4):c.1799C>T (p.Ala600Val)
|
|
|
NM_004260.4(RECQL4):c.179G>C (p.Arg60Pro)
|
rs1060501374
|
|
NM_004260.4(RECQL4):c.179G>T (p.Arg60Leu)
|
rs1060501374
|
|
NM_004260.4(RECQL4):c.17A>T (p.Asp6Val)
|
rs1815445943
|
|
NM_004260.4(RECQL4):c.1800T>C (p.Ala600=)
|
|
|
NM_004260.4(RECQL4):c.1804G>A (p.Ala602Thr)
|
rs1827825605
|
|
NM_004260.4(RECQL4):c.1804G>C (p.Ala602Pro)
|
|
|
NM_004260.4(RECQL4):c.1804G>T (p.Ala602Ser)
|
rs1827825605
|
|
NM_004260.4(RECQL4):c.1805C>G (p.Ala602Gly)
|
rs773424120
|
|
NM_004260.4(RECQL4):c.1806C>T (p.Ala602=)
|
rs772219901
|
|
NM_004260.4(RECQL4):c.1807T>C (p.Cys603Arg)
|
rs1060501379
|
|
NM_004260.4(RECQL4):c.1809C>T (p.Cys603=)
|
|
|
NM_004260.4(RECQL4):c.1811T>C (p.Ile604Thr)
|
rs1192112207
|
|
NM_004260.4(RECQL4):c.1812T>C (p.Ile604=)
|
rs2130695279
|
|
NM_004260.4(RECQL4):c.1815T>C (p.Asp605=)
|
rs1827823634
|
|
NM_004260.4(RECQL4):c.1816G>A (p.Glu606Lys)
|
rs878854644
|
|
NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter)
|
rs878854644
|
|
NM_004260.4(RECQL4):c.1818G>A (p.Glu606=)
|
rs748352386
|
|
NM_004260.4(RECQL4):c.1819G>A (p.Ala607Thr)
|
|
|
NM_004260.4(RECQL4):c.181A>G (p.Ser61Gly)
|
|
|
NM_004260.4(RECQL4):c.1820C>G (p.Ala607Gly)
|
rs1479605538
|
|
NM_004260.4(RECQL4):c.1821C>A (p.Ala607=)
|
|
|
NM_004260.4(RECQL4):c.1829T>G (p.Leu610Arg)
|
|
|
NM_004260.4(RECQL4):c.182G>A (p.Ser61Asn)
|
rs1815349306
|
|
NM_004260.4(RECQL4):c.1830C>G (p.Leu610=)
|
rs751342461
|
|
NM_004260.4(RECQL4):c.1830C>T (p.Leu610=)
|
|
|
NM_004260.4(RECQL4):c.1830dup (p.Ser611fs)
|
|
|
NM_004260.4(RECQL4):c.1831T>C (p.Ser611Pro)
|
rs2130694941
|
|
NM_004260.4(RECQL4):c.1832C>T (p.Ser611Phe)
|
rs766282231
|
|
NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter)
|
rs1554899728
|
|
NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter)
|
rs1554899720
|
|
NM_004260.4(RECQL4):c.183C>A (p.Ser61Arg)
|
|
|
NM_004260.4(RECQL4):c.183C>T (p.Ser61=)
|
rs530002165
|
|
NM_004260.4(RECQL4):c.1842C>A (p.Ser614=)
|
rs1371858622
|
|
NM_004260.4(RECQL4):c.1842C>T (p.Ser614=)
|
rs1371858622
|
|
NM_004260.4(RECQL4):c.1843C>G (p.His615Asp)
|
|
|
NM_004260.4(RECQL4):c.1844A>C (p.His615Pro)
|
rs1586810045
|
|
NM_004260.4(RECQL4):c.1844_1852del (p.His615_Phe617del)
|
|
|
NM_004260.4(RECQL4):c.1845C>A (p.His615Gln)
|
|
|
NM_004260.4(RECQL4):c.1846A>C (p.Asn616His)
|
|
|
NM_004260.4(RECQL4):c.1846A>G (p.Asn616Asp)
|
rs752370500
|
|
NM_004260.4(RECQL4):c.1851C>A (p.Phe617Leu)
|
|
|
NM_004260.4(RECQL4):c.1851C>G (p.Phe617Leu)
|
rs754403044
|
|
NM_004260.4(RECQL4):c.1851C>T (p.Phe617=)
|
|
|
NM_004260.4(RECQL4):c.1852C>G (p.Arg618Gly)
|
rs766726409
|
|
NM_004260.4(RECQL4):c.1852del (p.Arg618fs)
|
rs909588820
|
|
NM_004260.4(RECQL4):c.1853G>C (p.Arg618Pro)
|
rs776616498
|
|
NM_004260.4(RECQL4):c.1855C>T (p.Pro619Ser)
|
rs773620376
|
|
NM_004260.4(RECQL4):c.1856C>T (p.Pro619Leu)
|
rs1586809939
|
|
NM_004260.4(RECQL4):c.1858T>C (p.Cys620Arg)
|
rs762061985
|
|
NM_004260.4(RECQL4):c.185C>T (p.Ser62Phe)
|
rs1815348340
|
|
NM_004260.4(RECQL4):c.1860C>A (p.Cys620Ter)
|
rs1827815076
|
|
NM_004260.4(RECQL4):c.1860C>G (p.Cys620Trp)
|
rs1827815076
|
|
NM_004260.4(RECQL4):c.1861_1862insG (p.Tyr621Ter)
|
|
|
NM_004260.4(RECQL4):c.1861_1875del (p.Tyr621_Cys625del)
|
|
|
NM_004260.4(RECQL4):c.1864C>G (p.Leu622Val)
|
|
|
NM_004260.4(RECQL4):c.1868G>C (p.Arg623Pro)
|
rs201734382
|
|
NM_004260.4(RECQL4):c.1869C>G (p.Arg623=)
|
rs368736533
|
|
NM_004260.4(RECQL4):c.1870G>C (p.Val624Leu)
|
|
|
NM_004260.4(RECQL4):c.1872C>G (p.Val624=)
|
|
|
NM_004260.4(RECQL4):c.1875C>T (p.Cys625=)
|
rs1301085885
|
|
NM_004260.4(RECQL4):c.1877A>G (p.Lys626Arg)
|
rs778391731
|
|
NM_004260.4(RECQL4):c.1878+10A>T
|
rs754518967
|
|
NM_004260.4(RECQL4):c.1878+12G>A
|
|
|
NM_004260.4(RECQL4):c.1878+17C>T
|
rs1363005037
|
|
NM_004260.4(RECQL4):c.1878+18T>C
|
|
|
NM_004260.4(RECQL4):c.1878+19G>T
|
|
|
NM_004260.4(RECQL4):c.1878+20G>A
|
|
|
NM_004260.4(RECQL4):c.1878+20G>C
|
|
|
NM_004260.4(RECQL4):c.1878+5G>A
|
rs1827811268
|
|
NM_004260.4(RECQL4):c.1878+7C>T
|
rs1586809761
|
|
NM_004260.4(RECQL4):c.1878+8A>G
|
|
|
NM_004260.4(RECQL4):c.1879-10T>A
|
|
|
NM_004260.4(RECQL4):c.1879-13G>A
|
rs185203465
|
|
NM_004260.4(RECQL4):c.1879-17T>G
|
|
|
NM_004260.4(RECQL4):c.1879-18C>T
|
|
|
NM_004260.4(RECQL4):c.1879-19A>G
|
rs2130693245
|
|
NM_004260.4(RECQL4):c.1879-1G>A
|
|
|
NM_004260.4(RECQL4):c.1879-3C>A
|
rs773289669
|
|
NM_004260.4(RECQL4):c.1879-3C>T
|
rs773289669
|
|
NM_004260.4(RECQL4):c.1879-5T>C
|
|
|
NM_004260.4(RECQL4):c.1879-6G>A
|
|
|
NM_004260.4(RECQL4):c.1879-6G>T
|
rs765433205
|
|
NM_004260.4(RECQL4):c.1879-7G>C
|
|
|
NM_004260.4(RECQL4):c.187G>A (p.Glu63Lys)
|
|
|
NM_004260.4(RECQL4):c.187_188delinsTT (p.Glu63Leu)
|
|
|
NM_004260.4(RECQL4):c.187_196del (p.Glu63fs)
|
rs1815344712
|
|
NM_004260.4(RECQL4):c.1882C>G (p.Leu628Val)
|
|
|
NM_004260.4(RECQL4):c.1882C>T (p.Leu628Phe)
|
rs1336158277
|
|
NM_004260.4(RECQL4):c.1886G>C (p.Arg629Pro)
|
rs761794554
|
|
NM_004260.4(RECQL4):c.1887G>A (p.Arg629=)
|
|
|
NM_004260.4(RECQL4):c.1887G>C (p.Arg629=)
|
rs774077187
|
|
NM_004260.4(RECQL4):c.1888G>T (p.Glu630Ter)
|
|
|
NM_004260.4(RECQL4):c.1889A>C (p.Glu630Ala)
|
rs2130692831
|
|
NM_004260.4(RECQL4):c.1889A>G (p.Glu630Gly)
|
rs2130692831
|
|
NM_004260.4(RECQL4):c.1889A>T (p.Glu630Val)
|
rs2130692831
|
|
NM_004260.4(RECQL4):c.1889_1890delinsCA (p.Glu630Ala)
|
rs2130692809
|
|
NM_004260.4(RECQL4):c.1891C>A (p.Arg631Ser)
|
rs748941688
|
|
NM_004260.4(RECQL4):c.1892G>C (p.Arg631Pro)
|
rs771179943
|
|
NM_004260.4(RECQL4):c.1892G>T (p.Arg631Leu)
|
rs771179943
|
|
NM_004260.4(RECQL4):c.1893C>T (p.Arg631=)
|
rs2130692725
|
|
NM_004260.4(RECQL4):c.1895T>C (p.Met632Thr)
|
rs757829517
|
|
NM_004260.4(RECQL4):c.1895T>G (p.Met632Arg)
|
rs757829517
|
|
NM_004260.4(RECQL4):c.1896G>A (p.Met632Ile)
|
rs1827792863
|
|
NM_004260.4(RECQL4):c.1897G>T (p.Gly633Cys)
|
|
|
NM_004260.4(RECQL4):c.1898G>C (p.Gly633Ala)
|
rs2130692660
|
|
NM_004260.4(RECQL4):c.18_26dup (p.Asp6_Arg8dup)
|
rs1554905167
|
|
NM_004260.4(RECQL4):c.1901T>C (p.Val634Ala)
|
rs1827791855
|
|
NM_004260.4(RECQL4):c.1902G>T (p.Val634=)
|
rs1395441455
|
|
NM_004260.4(RECQL4):c.1904A>C (p.His635Pro)
|
rs1291839407
|
|
NM_004260.4(RECQL4):c.1905C>T (p.His635=)
|
|
|
NM_004260.4(RECQL4):c.1906T>C (p.Cys636Arg)
|
|
|
NM_004260.4(RECQL4):c.1908C>T (p.Cys636=)
|
rs2130692519
|
|
NM_004260.4(RECQL4):c.1909T>C (p.Phe637Leu)
|
rs1554899485
|
|
NM_004260.4(RECQL4):c.1912C>T (p.Leu638=)
|
|
|
NM_004260.4(RECQL4):c.1916G>A (p.Gly639Asp)
|
|
|
NM_004260.4(RECQL4):c.1916G>T (p.Gly639Val)
|
|
|
NM_004260.4(RECQL4):c.1917C>G (p.Gly639=)
|
|
|
NM_004260.4(RECQL4):c.1918C>G (p.Leu640Val)
|
|
|
NM_004260.4(RECQL4):c.1918_1920del (p.Leu640del)
|
rs1564798241
|
|
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro)
|
rs786200890
|
|
NM_004260.4(RECQL4):c.191C>A (p.Ser64Ter)
|
rs1554904702
|
|
NM_004260.4(RECQL4):c.191C>G (p.Ser64Trp)
|
|
|
NM_004260.4(RECQL4):c.191C>T (p.Ser64Leu)
|
rs1554904702
|
|
NM_004260.4(RECQL4):c.1920C>T (p.Leu640=)
|
rs1207662600
|
|
NM_004260.4(RECQL4):c.1921A>G (p.Thr641Ala)
|
|
|
NM_004260.4(RECQL4):c.1922C>T (p.Thr641Ile)
|
rs867428284
|
|
NM_004260.4(RECQL4):c.1922_1923del (p.Thr641fs)
|
rs1827788039
|
|
NM_004260.4(RECQL4):c.1924G>A (p.Ala642Thr)
|
rs2130692174
|
|
NM_004260.4(RECQL4):c.1924GCCACA[1] (p.642AT[1])
|
rs781471399
|
|
NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3])
|
rs781471399
|
|
NM_004260.4(RECQL4):c.1928C>T (p.Thr643Ile)
|
rs1285078612
|
|
NM_004260.4(RECQL4):c.1929A>G (p.Thr643=)
|
rs761693070
|
|
NM_004260.4(RECQL4):c.1931C>A (p.Ala644Asp)
|
|
|
NM_004260.4(RECQL4):c.1933A>T (p.Thr645Ser)
|
rs1302391250
|
|
NM_004260.4(RECQL4):c.1934C>G (p.Thr645Arg)
|
rs1827786205
|
|
NM_004260.4(RECQL4):c.1934C>T (p.Thr645Ile)
|
|
|
NM_004260.4(RECQL4):c.1935A>G (p.Thr645=)
|
|
|
NM_004260.4(RECQL4):c.1936C>A (p.Arg646Ser)
|
rs398124116
|
|
NM_004260.4(RECQL4):c.1938C>G (p.Arg646=)
|
rs1827785232
|
|
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly)
|
rs775127620
|
|
NM_004260.4(RECQL4):c.193C>A (p.Leu65Ile)
|
|
|
NM_004260.4(RECQL4):c.193C>T (p.Leu65Phe)
|
rs1564811672
|
|
NM_004260.4(RECQL4):c.1940G>A (p.Arg647His)
|
rs372664774
|
|
NM_004260.4(RECQL4):c.1940G>C (p.Arg647Pro)
|
|
|
NM_004260.4(RECQL4):c.1943C>T (p.Thr648Ile)
|
rs2130691808
|
|
NM_004260.4(RECQL4):c.1947C>T (p.Ala649=)
|
|
|
NM_004260.4(RECQL4):c.1949G>C (p.Ser650Thr)
|
|
|
NM_004260.4(RECQL4):c.194_200del (p.Leu65fs)
|
rs1554904685
|
|
NM_004260.4(RECQL4):c.1951G>A (p.Asp651Asn)
|
|
|
NM_004260.4(RECQL4):c.1955T>G (p.Val652Gly)
|
rs1167635927
|
|
NM_004260.4(RECQL4):c.1956G>A (p.Val652=)
|
|
|
NM_004260.4(RECQL4):c.1956G>T (p.Val652=)
|
rs1586808634
|
|
NM_004260.4(RECQL4):c.1957G>A (p.Ala653Thr)
|
rs1339042314
|
|
NM_004260.4(RECQL4):c.1958C>G (p.Ala653Gly)
|
rs1478522762
|
|
NM_004260.4(RECQL4):c.1958C>T (p.Ala653Val)
|
rs1478522762
|
|
NM_004260.4(RECQL4):c.195C>T (p.Leu65=)
|
rs369163654
|
|
NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter)
|
rs552960344
|
|
NM_004260.4(RECQL4):c.1964A>C (p.His655Pro)
|
rs2130691445
|
|
NM_004260.4(RECQL4):c.1965C>G (p.His655Gln)
|
|
|
NM_004260.4(RECQL4):c.1968G>A (p.Leu656=)
|
rs2130691378
|
|
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)
|
rs993147176
|
|
NM_004260.4(RECQL4):c.1969_2017delinsC (p.Ala657_Asn673delinsHis)
|
rs1827771929
|
|
NM_004260.4(RECQL4):c.1971T>C (p.Ala657=)
|
rs1827779283
|
|
NM_004260.4(RECQL4):c.1976C>T (p.Ala659Val)
|
rs1336325647
|
|
NM_004260.4(RECQL4):c.1978G>C (p.Glu660Gln)
|
|
|
NM_004260.4(RECQL4):c.1979A>T (p.Glu660Val)
|
|
|
NM_004260.4(RECQL4):c.197C>G (p.Pro66Arg)
|
|
|
NM_004260.4(RECQL4):c.1981G>C (p.Glu661Gln)
|
rs775332504
|
|
NM_004260.4(RECQL4):c.1984C>G (p.Pro662Ala)
|
rs1827777139
|
|
NM_004260.4(RECQL4):c.1984C>T (p.Pro662Ser)
|
rs1827777139
|
|
NM_004260.4(RECQL4):c.1985C>A (p.Pro662His)
|
rs1586808386
|
|
NM_004260.4(RECQL4):c.1985C>T (p.Pro662Leu)
|
rs1586808386
|
|
NM_004260.4(RECQL4):c.1989C>T (p.Asp663=)
|
|
|
NM_004260.4(RECQL4):c.198C>A (p.Pro66=)
|
|
|
NM_004260.4(RECQL4):c.198C>G (p.Pro66=)
|
rs1357267553
|
|
NM_004260.4(RECQL4):c.198C>T (p.Pro66=)
|
rs1357267553
|
|
NM_004260.4(RECQL4):c.198del (p.Ala67fs)
|
|
|
NM_004260.4(RECQL4):c.1990C>T (p.Leu664Phe)
|
|
|
NM_004260.4(RECQL4):c.1990del (p.Leu664fs)
|
|
|
NM_004260.4(RECQL4):c.1994A>C (p.His665Pro)
|
|
|
NM_004260.4(RECQL4):c.1994A>G (p.His665Arg)
|
rs1554899274
|
|
NM_004260.4(RECQL4):c.1995C>G (p.His665Gln)
|
rs759235313
|
|
NM_004260.4(RECQL4):c.1996G>C (p.Gly666Arg)
|
|
|
NM_004260.4(RECQL4):c.1998G>A (p.Gly666=)
|
|
|
NM_004260.4(RECQL4):c.1999C>T (p.Pro667Ser)
|
|
|
NM_004260.4(RECQL4):c.199G>A (p.Ala67Thr)
|
rs1815343882
|
|
NM_004260.4(RECQL4):c.199G>T (p.Ala67Ser)
|
rs1815343882
|
|
NM_004260.4(RECQL4):c.1A>C (p.Met1Leu)
|
rs964623569
|
|
NM_004260.4(RECQL4):c.2000C>T (p.Pro667Leu)
|
rs1420577458
|
|
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
|
|
|
NM_004260.4(RECQL4):c.2003C>A (p.Ala668Asp)
|
rs865819673
|
|
NM_004260.4(RECQL4):c.2004C>T (p.Ala668=)
|
rs1586808238
|
|
NM_004260.4(RECQL4):c.2005C>T (p.Pro669Ser)
|
rs888214723
|
|
NM_004260.4(RECQL4):c.2006C>G (p.Pro669Arg)
|
|
|
NM_004260.4(RECQL4):c.2007A>G (p.Pro669=)
|
|
|
NM_004260.4(RECQL4):c.2008G>T (p.Val670Phe)
|
rs1484366007
|
|
NM_004260.4(RECQL4):c.200C>T (p.Ala67Val)
|
|
|
NM_004260.4(RECQL4):c.2011C>A (p.Pro671Thr)
|
|
|
NM_004260.4(RECQL4):c.2011C>G (p.Pro671Ala)
|
rs1256215770
|
|
NM_004260.4(RECQL4):c.2011C>T (p.Pro671Ser)
|
rs1256215770
|
|
NM_004260.4(RECQL4):c.2012C>G (p.Pro671Arg)
|
rs889029109
|
|
NM_004260.4(RECQL4):c.2012CCA[1] (p.Thr672del)
|
rs1827771729
|
|
NM_004260.4(RECQL4):c.2013C>G (p.Pro671=)
|
rs746465216
|
|
NM_004260.4(RECQL4):c.2013del (p.Thr672fs)
|
|
|
NM_004260.4(RECQL4):c.2015C>T (p.Thr672Ile)
|
rs772696526
|
|
NM_004260.4(RECQL4):c.2017A>T (p.Asn673Tyr)
|
|
|
NM_004260.4(RECQL4):c.201G>A (p.Ala67=)
|
rs1586833178
|
|
NM_004260.4(RECQL4):c.2020C>T (p.Leu674=)
|
|
|
NM_004260.4(RECQL4):c.2022G>C (p.Leu674=)
|
|
|
NM_004260.4(RECQL4):c.2023C>T (p.His675Tyr)
|
rs1564797690
|
|
NM_004260.4(RECQL4):c.2025C>A (p.His675Gln)
|
rs779458343
|
|
NM_004260.4(RECQL4):c.2026del (p.Leu676fs)
|
rs2130690486
|
|
NM_004260.4(RECQL4):c.2027T>C (p.Leu676Pro)
|
rs2130690448
|
|
NM_004260.4(RECQL4):c.202G>A (p.Ala68Thr)
|
rs1222240717
|
|
NM_004260.4(RECQL4):c.2030C>T (p.Ser677Phe)
|
|
|
NM_004260.4(RECQL4):c.2032G>C (p.Val678Leu)
|
rs780282337
|
|
NM_004260.4(RECQL4):c.2034G>A (p.Val678=)
|
rs1448989786
|
|
NM_004260.4(RECQL4):c.2035T>C (p.Ser679Pro)
|
|
|
NM_004260.4(RECQL4):c.2037C>T (p.Ser679=)
|
rs1400451855
|
|
NM_004260.4(RECQL4):c.203C>T (p.Ala68Val)
|
rs2130740261
|
|
NM_004260.4(RECQL4):c.2040G>A (p.Met680Ile)
|
rs1474548278
|
|
NM_004260.4(RECQL4):c.2041G>C (p.Asp681His)
|
rs1586807847
|
|
NM_004260.4(RECQL4):c.2041G>T (p.Asp681Tyr)
|
rs1586807847
|
|
NM_004260.4(RECQL4):c.2044A>G (p.Arg682Gly)
|
rs1455596790
|
|
NM_004260.4(RECQL4):c.2045G>A (p.Arg682Lys)
|
|
|
NM_004260.4(RECQL4):c.2048A>G (p.Asp683Gly)
|
rs1827765739
|
|
NM_004260.4(RECQL4):c.204G>A (p.Ala68=)
|
rs904506458
|
|
NM_004260.4(RECQL4):c.2050A>C (p.Thr684Pro)
|
rs1483958590
|
|
NM_004260.4(RECQL4):c.2050A>G (p.Thr684Ala)
|
rs1483958590
|
|
NM_004260.4(RECQL4):c.2051_2052del (p.Thr684fs)
|
|
|
NM_004260.4(RECQL4):c.2053G>C (p.Asp685His)
|
|
|
NM_004260.4(RECQL4):c.2053_2054del (p.Asp685fs)
|
rs2130690035
|
|
NM_004260.4(RECQL4):c.2055C>G (p.Asp685Glu)
|
|
|
NM_004260.4(RECQL4):c.2055C>T (p.Asp685=)
|
|
|
NM_004260.4(RECQL4):c.2057A>C (p.Gln686Pro)
|
|
|
NM_004260.4(RECQL4):c.2058+14C>T
|
|
|
NM_004260.4(RECQL4):c.2058+15T>C
|
|
|
NM_004260.4(RECQL4):c.2058+17T>C
|
|
|
NM_004260.4(RECQL4):c.2058+17T>G
|
|
|
NM_004260.4(RECQL4):c.2058+17_2058+22del
|
|
|
NM_004260.4(RECQL4):c.2058+18G>A
|
rs2130689774
|
|
NM_004260.4(RECQL4):c.2058+20G>A
|
|
|
NM_004260.4(RECQL4):c.2058+2T>G
|
rs2130689994
|
|
NM_004260.4(RECQL4):c.2058+3G>A
|
rs1554899156
|
|
NM_004260.4(RECQL4):c.2058+4G>C
|
|
|
NM_004260.4(RECQL4):c.2058+5G>C
|
rs1041802349
|
|
NM_004260.4(RECQL4):c.2058+8T>C
|
rs1228916625
|
|
NM_004260.4(RECQL4):c.2058+9G>A
|
rs766002126
|
|
NM_004260.4(RECQL4):c.2058G>C (p.Gln686His)
|
|
|
NM_004260.4(RECQL4):c.2059-10T>A
|
|
|
NM_004260.4(RECQL4):c.2059-10_2069dup
|
rs1554898831
|
|
NM_004260.4(RECQL4):c.2059-1G>C
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-1G>T
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-3C>T
|
|
|
NM_004260.4(RECQL4):c.2059-5A>C
|
rs370542063
|
|
NM_004260.4(RECQL4):c.2059-5A>G
|
rs370542063
|
|
NM_004260.4(RECQL4):c.2059-5_2059-4insGCCCACGCCAACCGCTCCTCACTCCCCACC
|
|
|
NM_004260.4(RECQL4):c.2059-76_3204del
|
|
|
NM_004260.4(RECQL4):c.2059-78_3201del
|
|
|
NM_004260.4(RECQL4):c.2059-7T>C
|
rs1386690213
|
|
NM_004260.4(RECQL4):c.2059-7_2059-6del
|
|
|
NM_004260.4(RECQL4):c.2059-8_2059-6del
|
rs558061753
|
|
NM_004260.4(RECQL4):c.2059-9C>A
|
|
|
NM_004260.4(RECQL4):c.205G>A (p.Ala69Thr)
|
rs2130740225
|
|
NM_004260.4(RECQL4):c.2060C>G (p.Ala687Gly)
|
rs1204590426
|
|
NM_004260.4(RECQL4):c.2061A>G (p.Ala687=)
|
|
|
NM_004260.4(RECQL4):c.2062C>T (p.Leu688=)
|
|
|
NM_004260.4(RECQL4):c.2063T>C (p.Leu688Pro)
|
rs1315661208
|
|
NM_004260.4(RECQL4):c.2063T>G (p.Leu688Arg)
|
|
|
NM_004260.4(RECQL4):c.2064G>A (p.Leu688=)
|
rs1586805619
|
|
NM_004260.4(RECQL4):c.2064_2065del (p.Leu689fs)
|
|
|
NM_004260.4(RECQL4):c.2065T>C (p.Leu689=)
|
rs2130684742
|
|
NM_004260.4(RECQL4):c.2068A>T (p.Thr690Ser)
|
rs1246782381
|
|
NM_004260.4(RECQL4):c.206C>A (p.Ala69Asp)
|
rs768035751
|
|
NM_004260.4(RECQL4):c.206C>G (p.Ala69Gly)
|
rs768035751
|
|
NM_004260.4(RECQL4):c.206C>T (p.Ala69Val)
|
rs768035751
|
|
NM_004260.4(RECQL4):c.2071C>G (p.Leu691Val)
|
rs1330868114
|
|
NM_004260.4(RECQL4):c.2073G>A (p.Leu691=)
|
rs2130684612
|
|
NM_004260.4(RECQL4):c.2073G>T (p.Leu691=)
|
|
|
NM_004260.4(RECQL4):c.2075T>G (p.Leu692Arg)
|
|
|
NM_004260.4(RECQL4):c.2077C>T (p.Gln693Ter)
|
rs1371868658
|
|
NM_004260.4(RECQL4):c.2078A>C (p.Gln693Pro)
|
|
|
NM_004260.4(RECQL4):c.2078A>G (p.Gln693Arg)
|
|
|
NM_004260.4(RECQL4):c.2079A>G (p.Gln693=)
|
|
|
NM_004260.4(RECQL4):c.207C>T (p.Ala69=)
|
rs2130740179
|
|
NM_004260.4(RECQL4):c.2080G>A (p.Gly694Ser)
|
rs750118023
|
|
NM_004260.4(RECQL4):c.2081G>A (p.Gly694Asp)
|
rs887964523
|
|
NM_004260.4(RECQL4):c.2083A>T (p.Lys695Ter)
|
rs2130684472
|
|
NM_004260.4(RECQL4):c.2085del (p.Lys695fs)
|
rs1457411812
|
|
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)
|
rs531970883
|
|
NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys)
|
rs531970883
|
|
NM_004260.4(RECQL4):c.2087G>C (p.Arg696Pro)
|
rs1026729951
|
|
NM_004260.4(RECQL4):c.2087G>T (p.Arg696Leu)
|
|
|
NM_004260.4(RECQL4):c.208G>A (p.Glu70Lys)
|
rs1404280214
|
|
NM_004260.4(RECQL4):c.2091T>A (p.Phe697Leu)
|
|
|
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu)
|
rs386833850
|
|
NM_004260.4(RECQL4):c.2092C>T (p.Gln698Ter)
|
rs994355873
|
|
NM_004260.4(RECQL4):c.2093A>G (p.Gln698Arg)
|
rs1827683274
|
|
NM_004260.4(RECQL4):c.2096A>C (p.Asn699Thr)
|
rs1827683037
|
|
NM_004260.4(RECQL4):c.2096del (p.Asn699fs)
|
rs2130684253
|
|
NM_004260.4(RECQL4):c.2096dup (p.Asn699fs)
|
rs2130684253
|
|
NM_004260.4(RECQL4):c.2097C>G (p.Asn699Lys)
|
rs896790337
|
|
NM_004260.4(RECQL4):c.2098C>T (p.Leu700Phe)
|
rs1586805351
|
|
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro)
|
rs563222200
|
|
NM_004260.4(RECQL4):c.2102A>G (p.Asp701Gly)
|
rs2130684119
|
|
NM_004260.4(RECQL4):c.2103T>C (p.Asp701=)
|
|
|
NM_004260.4(RECQL4):c.2104T>A (p.Ser702Thr)
|
rs1827681779
|
|
NM_004260.4(RECQL4):c.2105C>G (p.Ser702Cys)
|
rs1320752740
|
|
NM_004260.4(RECQL4):c.2108T>A (p.Ile703Asn)
|
rs2130684034
|
|
NM_004260.4(RECQL4):c.2109T>G (p.Ile703Met)
|
rs759753484
|
|
NM_004260.4(RECQL4):c.2112C>A (p.Ile704=)
|
rs368140492
|
|
NM_004260.4(RECQL4):c.2112_2114del (p.Ile705del)
|
rs770270259
|
|
NM_004260.4(RECQL4):c.2113A>C (p.Ile705Leu)
|
rs374262706
|
|
NM_004260.4(RECQL4):c.2115T>C (p.Ile705=)
|
|
|
NM_004260.4(RECQL4):c.2116T>A (p.Tyr706Asn)
|
rs1827677165
|
|
NM_004260.4(RECQL4):c.2118C>G (p.Tyr706Ter)
|
rs574326650
|
|
NM_004260.4(RECQL4):c.2120_2159del (p.Cys707fs)
|
|
|
NM_004260.4(RECQL4):c.2121C>T (p.Cys707=)
|
rs2130683835
|
|
NM_004260.4(RECQL4):c.2122A>G (p.Asn708Asp)
|
rs2130683818
|
|
NM_004260.4(RECQL4):c.2123A>G (p.Asn708Ser)
|
rs1564796315
|
|
NM_004260.4(RECQL4):c.2123A>T (p.Asn708Ile)
|
rs1564796315
|
|
NM_004260.4(RECQL4):c.2124C>A (p.Asn708Lys)
|
rs749266091
|
|
NM_004260.4(RECQL4):c.2124C>G (p.Asn708Lys)
|
rs749266091
|
|
NM_004260.4(RECQL4):c.2125C>G (p.Arg709Gly)
|
rs199562131
|
|
NM_004260.4(RECQL4):c.2127_2128delinsCT (p.Arg710Cys)
|
|
|
NM_004260.4(RECQL4):c.2128_2145dup (p.Arg715_Ile716insArgGluAspThrGluArg)
|
|
|
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala)
|
rs34642881
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004260.4(RECQL4):c.213+10C>T
|
rs565610567
|
|
NM_004260.4(RECQL4):c.213+12C>T
|
rs2130739750
|
|
NM_004260.4(RECQL4):c.213+13C>A
|
|
|
NM_004260.4(RECQL4):c.213+13C>T
|
rs745923927
|
|
NM_004260.4(RECQL4):c.213+16C>A
|
|
|
NM_004260.4(RECQL4):c.213+17G>A
|
|
|
NM_004260.4(RECQL4):c.213+17G>T
|
|
|
NM_004260.4(RECQL4):c.213+19C>T
|
|
|
NM_004260.4(RECQL4):c.213+20C>G
|
|
|
NM_004260.4(RECQL4):c.213+4C>A
|
|
|
NM_004260.4(RECQL4):c.213+6C>T
|
rs1554904641
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
NM_004260.4(RECQL4):c.213+8G>C
|
|
|
NM_004260.4(RECQL4):c.213+9G>A
|
|
|
NM_004260.4(RECQL4):c.213+9G>C
|
|
|
NM_004260.4(RECQL4):c.213+9_213+10delinsAA
|
rs2130739824
|
|
NM_004260.4(RECQL4):c.213+9del
|
|
|
NM_004260.4(RECQL4):c.2130C>A (p.Arg710=)
|
|
|
NM_004260.4(RECQL4):c.2130C>T (p.Arg710=)
|
rs757037180
|
|
NM_004260.4(RECQL4):c.2136C>G (p.Asp712Glu)
|
rs377493345
|
|
NM_004260.4(RECQL4):c.2136C>T (p.Asp712=)
|
rs377493345
|
|
NM_004260.4(RECQL4):c.2137A>C (p.Thr713Pro)
|
rs760077772
|
|
NM_004260.4(RECQL4):c.2137A>G (p.Thr713Ala)
|
|
|
NM_004260.4(RECQL4):c.2139A>G (p.Thr713=)
|
rs2130683467
|
|
NM_004260.4(RECQL4):c.2139dup (p.Glu714fs)
|
|
|
NM_004260.4(RECQL4):c.213G>A (p.Glu71=)
|
rs1564811591
|
|
NM_004260.4(RECQL4):c.213G>C (p.Glu71Asp)
|
rs1564811591
|
|
NM_004260.4(RECQL4):c.213_213+2dup
|
rs1815339349
|
|
NM_004260.4(RECQL4):c.214-16C>A
|
rs371301551
|
|
NM_004260.4(RECQL4):c.214-16C>T
|
rs371301551
|
|
NM_004260.4(RECQL4):c.214-16_214-15del
|
|
|
NM_004260.4(RECQL4):c.214-17C>A
|
rs768498709
|
|
NM_004260.4(RECQL4):c.214-17C>T
|
rs768498709
|
|
NM_004260.4(RECQL4):c.214-19C>T
|
|
|
NM_004260.4(RECQL4):c.214-2A>G
|
|
|
NM_004260.4(RECQL4):c.214-3C>T
|
rs367849648
|
|
NM_004260.4(RECQL4):c.214-4G>A
|
rs1586831137
|
|
NM_004260.4(RECQL4):c.214-4G>T
|
rs1586831137
|
|
NM_004260.4(RECQL4):c.214-6C>A
|
|
|
NM_004260.4(RECQL4):c.214-6C>G
|
rs1564810891
|
|
NM_004260.4(RECQL4):c.214-6C>T
|
rs1564810891
|
|
NM_004260.4(RECQL4):c.214-7C>G
|
|
|
NM_004260.4(RECQL4):c.214-8T>C
|
rs1586831210
|
|
NM_004260.4(RECQL4):c.214-9C>G
|
|
|
NM_004260.4(RECQL4):c.214-9C>T
|
|
|
NM_004260.4(RECQL4):c.2140G>A (p.Glu714Lys)
|
rs776931639
|
|
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs)
|
rs746222099
|
|
NM_004260.4(RECQL4):c.2143C>G (p.Arg715Gly)
|
rs373292946
|
|
NM_004260.4(RECQL4):c.2145G>A (p.Arg715=)
|
rs985838873
|
|
NM_004260.4(RECQL4):c.2146A>C (p.Ile716Leu)
|
rs1331893787
|
|
NM_004260.4(RECQL4):c.2146A>G (p.Ile716Val)
|
rs1331893787
|
|
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)
|
rs772168426
|
|
NM_004260.4(RECQL4):c.2148C>T (p.Ile716=)
|
rs772168426
|
|
NM_004260.4(RECQL4):c.2149G>C (p.Ala717Pro)
|
rs970075256
|
|
NM_004260.4(RECQL4):c.214G>A (p.Ala72Thr)
|
|
|
NM_004260.4(RECQL4):c.214G>C (p.Ala72Pro)
|
|
|
NM_004260.4(RECQL4):c.214G>T (p.Ala72Ser)
|
rs1815258229
|
|
NM_004260.4(RECQL4):c.2150C>T (p.Ala717Val)
|
rs775509164
|
|
NM_004260.4(RECQL4):c.2151T>C (p.Ala717=)
|
rs2130683207
|
|
NM_004260.4(RECQL4):c.2152G>A (p.Ala718Thr)
|
rs1586804739
|
|
NM_004260.4(RECQL4):c.2154G>C (p.Ala718=)
|
rs745813211
|
|
NM_004260.4(RECQL4):c.2156T>A (p.Leu719His)
|
rs1827665831
|
|
NM_004260.4(RECQL4):c.2160C>G (p.Leu720=)
|
|
|
NM_004260.4(RECQL4):c.2160C>T (p.Leu720=)
|
rs757069680
|
|
NM_004260.4(RECQL4):c.2161C>A (p.Arg721=)
|
rs746691436
|
|
NM_004260.4(RECQL4):c.2161C>G (p.Arg721Gly)
|
rs746691436
|
|
NM_004260.4(RECQL4):c.2162G>C (p.Arg721Pro)
|
|
|
NM_004260.4(RECQL4):c.2164A>G (p.Thr722Ala)
|
|
|
NM_004260.4(RECQL4):c.2165C>G (p.Thr722Ser)
|
rs985482776
|
|
NM_004260.4(RECQL4):c.2165C>T (p.Thr722Ile)
|
|
|
NM_004260.4(RECQL4):c.2166C>T (p.Thr722=)
|
rs752209547
|
|
NM_004260.4(RECQL4):c.2168G>A (p.Cys723Tyr)
|
|
|
NM_004260.4(RECQL4):c.216G>A (p.Ala72=)
|
rs753073753
|
|
NM_004260.4(RECQL4):c.216G>C (p.Ala72=)
|
|
|
NM_004260.4(RECQL4):c.216G>T (p.Ala72=)
|
|
|
NM_004260.4(RECQL4):c.2170C>T (p.Leu724=)
|
rs536831548
|
|
NM_004260.4(RECQL4):c.2172G>A (p.Leu724=)
|
|
|
NM_004260.4(RECQL4):c.2173C>T (p.His725Tyr)
|
rs1827661449
|
|
NM_004260.4(RECQL4):c.2177C>T (p.Ala726Val)
|
rs2130682790
|
|
NM_004260.4(RECQL4):c.2178A>G (p.Ala726=)
|
|
|
NM_004260.4(RECQL4):c.2179G>A (p.Ala727Thr)
|
rs773424301
|
|
NM_004260.4(RECQL4):c.2179G>T (p.Ala727Ser)
|
rs773424301
|
|
NM_004260.4(RECQL4):c.217C>G (p.Pro73Ala)
|
|
|
NM_004260.4(RECQL4):c.2180C>T (p.Ala727Val)
|
rs1827659174
|
|
NM_004260.4(RECQL4):c.2181C>G (p.Ala727=)
|
rs893247525
|
|
NM_004260.4(RECQL4):c.2183G>A (p.Trp728Ter)
|
|
|
NM_004260.4(RECQL4):c.2184G>A (p.Trp728Ter)
|
rs1466549456
|
|
NM_004260.4(RECQL4):c.2185G>C (p.Val729Leu)
|
rs376141829
|
|
NM_004260.4(RECQL4):c.2187C>T (p.Val729=)
|
rs2130682610
|
|
NM_004260.4(RECQL4):c.2188C>T (p.Pro730Ser)
|
rs1209776908
|
|
NM_004260.4(RECQL4):c.2189C>T (p.Pro730Leu)
|
rs1554898674
|
|
NM_004260.4(RECQL4):c.218C>G (p.Pro73Arg)
|
rs1815256853
|
|
NM_004260.4(RECQL4):c.218C>T (p.Pro73Leu)
|
|
|
NM_004260.4(RECQL4):c.2192G>A (p.Gly731Glu)
|
rs762080821
|
|
NM_004260.4(RECQL4):c.2192G>C (p.Gly731Ala)
|
rs762080821
|
|
NM_004260.4(RECQL4):c.2193G>A (p.Gly731=)
|
rs1586804442
|
|
NM_004260.4(RECQL4):c.2193G>T (p.Gly731=)
|
|
|
NM_004260.4(RECQL4):c.2194T>C (p.Ser732Pro)
|
rs2130682486
|
|
NM_004260.4(RECQL4):c.2195C>G (p.Ser732Cys)
|
rs1060501366
|
|
NM_004260.4(RECQL4):c.2195C>T (p.Ser732Phe)
|
rs1060501366
|
|
NM_004260.4(RECQL4):c.2196T>C (p.Ser732=)
|
rs373197205
|
|
NM_004260.4(RECQL4):c.2198G>C (p.Gly733Ala)
|
rs1060501359
|
|
NM_004260.4(RECQL4):c.219A>G (p.Pro73=)
|
rs2130736658
|
|
NM_004260.4(RECQL4):c.2200+1G>A
|
|
|
NM_004260.4(RECQL4):c.2200+1G>T
|
|
|
NM_004260.4(RECQL4):c.2200+2T>C
|
rs768749064
|
|
NM_004260.4(RECQL4):c.2200+4C>A
|
rs776670526
|
|
NM_004260.4(RECQL4):c.2200+6G>C
|
rs2130682284
|
|
NM_004260.4(RECQL4):c.2200+6G>T
|
rs2130682284
|
|
NM_004260.4(RECQL4):c.2200+7C>T
|
rs2130682268
|
|
NM_004260.4(RECQL4):c.2200G>A (p.Gly734Ser)
|
|
|
NM_004260.4(RECQL4):c.2201-10T>A
|
|
|
NM_004260.4(RECQL4):c.2201-10_2201-7delinsA
|
|
|
NM_004260.4(RECQL4):c.2201-1G>A
|
|
|
NM_004260.4(RECQL4):c.2201-3A>G
|
rs1554898541
|
|
NM_004260.4(RECQL4):c.2201-4A>G
|
rs1554898543
|
|
NM_004260.4(RECQL4):c.2201-5C>A
|
|
|
NM_004260.4(RECQL4):c.2201-5C>G
|
rs764321990
|
|
NM_004260.4(RECQL4):c.2201-6C>A
|
|
|
NM_004260.4(RECQL4):c.2201-6C>T
|
rs571948798
|
|
NM_004260.4(RECQL4):c.2201-7C>G
|
rs751734833
|
|
NM_004260.4(RECQL4):c.2201-7C>T
|
|
|
NM_004260.4(RECQL4):c.2201-8C>A
|
rs200942592
|
|
NM_004260.4(RECQL4):c.2201G>A (p.Gly734Asp)
|
|
|
NM_004260.4(RECQL4):c.2203_2205del (p.Arg735del)
|
rs1827640804
|
|
NM_004260.4(RECQL4):c.2204G>C (p.Arg735Pro)
|
rs773155492
|
|
NM_004260.4(RECQL4):c.2204G>T (p.Arg735Leu)
|
rs773155492
|
|
NM_004260.4(RECQL4):c.2206G>A (p.Ala736Thr)
|
rs864309583
|
|
NM_004260.4(RECQL4):c.2207C>T (p.Ala736Val)
|
rs771790911
|
|
NM_004260.4(RECQL4):c.2208C>T (p.Ala736=)
|
rs1183777303
|
|
NM_004260.4(RECQL4):c.2210C>A (p.Pro737His)
|
|
|
NM_004260.4(RECQL4):c.2210C>G (p.Pro737Arg)
|
|
|
NM_004260.4(RECQL4):c.2211C>G (p.Pro737=)
|
rs768351604
|
|
NM_004260.4(RECQL4):c.2211C>T (p.Pro737=)
|
rs768351604
|
|
NM_004260.4(RECQL4):c.2211dup (p.Lys738fs)
|
rs1263096303
|
|
NM_004260.4(RECQL4):c.2215del (p.Thr739fs)
|
rs2130680809
|
|
NM_004260.4(RECQL4):c.2216_2217del (p.Thr739fs)
|
|
|
NM_004260.4(RECQL4):c.2217C>T (p.Thr739=)
|
rs2130680777
|
|
NM_004260.4(RECQL4):c.2218A>G (p.Thr740Ala)
|
rs1586803619
|
|
NM_004260.4(RECQL4):c.221_222del (p.Glu74fs)
|
rs773325186
|
|
NM_004260.4(RECQL4):c.221_283del (p.Glu74_Pro94del)
|
rs2130735614
|
|
NM_004260.4(RECQL4):c.2221G>A (p.Ala741Thr)
|
rs748933048
|
|
NM_004260.4(RECQL4):c.2221G>C (p.Ala741Pro)
|
|
|
NM_004260.4(RECQL4):c.2223C>A (p.Ala741=)
|
|
|
NM_004260.4(RECQL4):c.2223C>G (p.Ala741=)
|
|
|
NM_004260.4(RECQL4):c.2226G>A (p.Glu742=)
|
rs200002105
|
|
NM_004260.4(RECQL4):c.2228C>A (p.Ala743Asp)
|
rs781675349
|
|
NM_004260.4(RECQL4):c.2228C>G (p.Ala743Gly)
|
rs781675349
|
|
NM_004260.4(RECQL4):c.2228C>T (p.Ala743Val)
|
|
|
NM_004260.4(RECQL4):c.222G>C (p.Glu74Asp)
|
|
|
NM_004260.4(RECQL4):c.2231A>G (p.Tyr744Cys)
|
rs757576880
|
|
NM_004260.4(RECQL4):c.2232C>G (p.Tyr744Ter)
|
|
|
NM_004260.4(RECQL4):c.2232C>T (p.Tyr744=)
|
rs2130680464
|
|
NM_004260.4(RECQL4):c.2235C>A (p.His745Gln)
|
|
|
NM_004260.4(RECQL4):c.2237C>A (p.Ala746Glu)
|
rs201883228
|
|
NM_004260.4(RECQL4):c.2237C>G (p.Ala746Gly)
|
rs201883228
|
|
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val)
|
rs201883228
|
|
NM_004260.4(RECQL4):c.2238G>C (p.Ala746=)
|
rs35215952
|
|
NM_004260.4(RECQL4):c.2238G>T (p.Ala746=)
|
rs35215952
|
|
NM_004260.4(RECQL4):c.2241C>G (p.Gly747=)
|
rs957407351
|
|
NM_004260.4(RECQL4):c.2241C>T (p.Gly747=)
|
rs957407351
|
|
NM_004260.4(RECQL4):c.2242A>C (p.Met748Leu)
|
|
|
NM_004260.4(RECQL4):c.2243T>C (p.Met748Thr)
|
rs2130680231
|
|
NM_004260.4(RECQL4):c.2245T>C (p.Cys749Arg)
|
rs1564795333
|
|
NM_004260.4(RECQL4):c.2246G>A (p.Cys749Tyr)
|
rs1586803374
|
|
NM_004260.4(RECQL4):c.2247C>T (p.Cys749=)
|
|
|
NM_004260.4(RECQL4):c.2249G>A (p.Ser750Asn)
|
|
|
NM_004260.4(RECQL4):c.2249G>T (p.Ser750Ile)
|
|
|
NM_004260.4(RECQL4):c.224C>T (p.Pro75Leu)
|
rs943035311
|
|
NM_004260.4(RECQL4):c.2250C>G (p.Ser750Arg)
|
rs761639839
|
|
NM_004260.4(RECQL4):c.2251C>A (p.Arg751=)
|
rs750304658
|
|
NM_004260.4(RECQL4):c.2253G>C (p.Arg751=)
|
|
|
NM_004260.4(RECQL4):c.2254G>A (p.Glu752Lys)
|
rs1586803311
|
|
NM_004260.4(RECQL4):c.2256A>G (p.Glu752=)
|
|
|
NM_004260.4(RECQL4):c.2257C>A (p.Arg753=)
|
rs367570292
|
|
NM_004260.4(RECQL4):c.2257CGG[2] (p.Arg755del)
|
rs751765974
|
|
NM_004260.4(RECQL4):c.2259G>A (p.Arg753=)
|
rs1472937433
|
|
NM_004260.4(RECQL4):c.225C>T (p.Pro75=)
|
rs2130736531
|
|
NM_004260.4(RECQL4):c.2262G>T (p.Arg754=)
|
|
|
NM_004260.4(RECQL4):c.2263C>T (p.Arg755Trp)
|
rs1269867447
|
|
NM_004260.4(RECQL4):c.2266G>A (p.Val756Ile)
|
rs1319987748
|
|
NM_004260.4(RECQL4):c.2266G>T (p.Val756Leu)
|
|
|
NM_004260.4(RECQL4):c.226C>A (p.Arg76Ser)
|
|
|
NM_004260.4(RECQL4):c.226C>T (p.Arg76Cys)
|
rs1815254850
|
|
NM_004260.4(RECQL4):c.2270A>G (p.Gln757Arg)
|
rs1827629600
|
|
NM_004260.4(RECQL4):c.2271G>A (p.Gln757=)
|
rs2130679729
|
|
NM_004260.4(RECQL4):c.2272C>G (p.Arg758Gly)
|
rs758790200
|
|
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro)
|
rs748416710
|
|
NM_004260.4(RECQL4):c.2274A>G (p.Arg758=)
|
rs2130679652
|
|
NM_004260.4(RECQL4):c.2276C>A (p.Ala759Asp)
|
|
|
NM_004260.4(RECQL4):c.2276C>T (p.Ala759Val)
|
rs1586803103
|
|
NM_004260.4(RECQL4):c.2277dup (p.Phe760fs)
|
rs2130679588
|
|
NM_004260.4(RECQL4):c.2282T>C (p.Met761Thr)
|
rs1586803043
|
|
NM_004260.4(RECQL4):c.2287G>A (p.Gly763Ser)
|
|
|
NM_004260.4(RECQL4):c.2287G>C (p.Gly763Arg)
|
|
|
NM_004260.4(RECQL4):c.2288dup (p.Gln764fs)
|
rs2130679413
|
|
NM_004260.4(RECQL4):c.2289C>T (p.Gly763=)
|
rs1406619995
|
|
NM_004260.4(RECQL4):c.2293T>C (p.Leu765=)
|
rs2130679305
|
|
NM_004260.4(RECQL4):c.2293T>G (p.Leu765Val)
|
|
|
NM_004260.4(RECQL4):c.2295del (p.Leu765fs)
|
|
|
NM_004260.4(RECQL4):c.2296del (p.Arg766fs)
|
rs1827625671
|
|
NM_004260.4(RECQL4):c.229T>G (p.Cys77Gly)
|
rs2130736466
|
|
NM_004260.4(RECQL4):c.22C>A (p.Arg8=)
|
rs1554905170
|
|
NM_004260.4(RECQL4):c.22C>G (p.Arg8Gly)
|
rs1554905170
|
|
NM_004260.4(RECQL4):c.22C>T (p.Arg8Trp)
|
rs1554905170
|
|
NM_004260.4(RECQL4):c.2302G>C (p.Val768Leu)
|
rs1827623151
|
|
NM_004260.4(RECQL4):c.2303T>G (p.Val768Gly)
|
rs370863264
|
|
NM_004260.4(RECQL4):c.2304G>A (p.Val768=)
|
rs2130679039
|
|
NM_004260.4(RECQL4):c.2305del (p.Val769fs)
|
rs2130679030
|
|
NM_004260.4(RECQL4):c.2306T>C (p.Val769Ala)
|
rs1827622405
|
|
NM_004260.4(RECQL4):c.2307G>A (p.Val769=)
|
rs1554898349
|
|
NM_004260.4(RECQL4):c.2309C>T (p.Ala770Val)
|
|
|
NM_004260.4(RECQL4):c.230G>T (p.Cys77Phe)
|
rs373705170
|
|
NM_004260.4(RECQL4):c.2312C>A (p.Thr771Lys)
|
rs770327474
|
|
NM_004260.4(RECQL4):c.2313G>T (p.Thr771=)
|
|
|
NM_004260.4(RECQL4):c.2315T>C (p.Val772Ala)
|
rs773819025
|
|
NM_004260.4(RECQL4):c.2317G>A (p.Ala773Thr)
|
rs1385567680
|
|
NM_004260.4(RECQL4):c.2317G>C (p.Ala773Pro)
|
|
|
NM_004260.4(RECQL4):c.2317_2318delinsTT (p.Ala773Phe)
|
rs1564794977
|
|
NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val)
|
rs772573389
|
|
NM_004260.4(RECQL4):c.2319C>T (p.Ala773=)
|
rs1294659607
|
|
NM_004260.4(RECQL4):c.231C>T (p.Cys77=)
|
|
|
NM_004260.4(RECQL4):c.2322_2325dup (p.Met776fs)
|
|
|
NM_004260.4(RECQL4):c.2323G>A (p.Gly775Arg)
|
rs2130678662
|
|
NM_004260.4(RECQL4):c.2324G>T (p.Gly775Val)
|
|
|
NM_004260.4(RECQL4):c.2326A>G (p.Met776Val)
|
rs1406170971
|
|
NM_004260.4(RECQL4):c.2326_2334del (p.Met776_Leu778del)
|
|
|
NM_004260.4(RECQL4):c.2327T>C (p.Met776Thr)
|
rs1554898312
|
|
NM_004260.4(RECQL4):c.2329G>A (p.Gly777Arg)
|
rs377173936
|
|
NM_004260.4(RECQL4):c.2329G>C (p.Gly777Arg)
|
|
|
NM_004260.4(RECQL4):c.232T>G (p.Trp78Gly)
|
rs768539707
|
|
NM_004260.4(RECQL4):c.2330G>A (p.Gly777Glu)
|
rs768986171
|
|
NM_004260.4(RECQL4):c.2330G>C (p.Gly777Ala)
|
rs768986171
|
|
NM_004260.4(RECQL4):c.2334G>A (p.Leu778=)
|
|
|
NM_004260.4(RECQL4):c.2335G>T (p.Asp779Tyr)
|
rs780228802
|
|
NM_004260.4(RECQL4):c.2335_2356del (p.Asp779fs)
|
rs2130678086
|
|
NM_004260.4(RECQL4):c.2336A>G (p.Asp779Gly)
|
rs2130678409
|
|
NM_004260.4(RECQL4):c.2338C>A (p.Arg780=)
|
|
|
NM_004260.4(RECQL4):c.2338C>G (p.Arg780Gly)
|
rs372741479
|
|
NM_004260.4(RECQL4):c.2339G>A (p.Arg780Gln)
|
rs369488194
|
|
NM_004260.4(RECQL4):c.2339G>T (p.Arg780Leu)
|
rs369488194
|
|
NM_004260.4(RECQL4):c.2340G>A (p.Arg780=)
|
|
|
NM_004260.4(RECQL4):c.2341C>G (p.Pro781Ala)
|
|
|
NM_004260.4(RECQL4):c.2341C>T (p.Pro781Ser)
|
rs1490845255
|
|
NM_004260.4(RECQL4):c.2342C>G (p.Pro781Arg)
|
|
|
NM_004260.4(RECQL4):c.2348T>C (p.Val783Ala)
|
rs764988329
|
|
NM_004260.4(RECQL4):c.2350C>G (p.Arg784Gly)
|
|
|
NM_004260.4(RECQL4):c.2351G>C (p.Arg784Pro)
|
rs536096413
|
|
NM_004260.4(RECQL4):c.2352G>A (p.Arg784=)
|
rs2130678153
|
|
NM_004260.4(RECQL4):c.2352G>C (p.Arg784=)
|
rs2130678153
|
|
NM_004260.4(RECQL4):c.2353G>A (p.Ala785Thr)
|
rs1060501362
|
|
NM_004260.4(RECQL4):c.2354C>A (p.Ala785Asp)
|
|
|
NM_004260.4(RECQL4):c.2354C>T (p.Ala785Val)
|
rs1827614027
|
|
NM_004260.4(RECQL4):c.2355T>C (p.Ala785=)
|
rs1554898259
|
|
NM_004260.4(RECQL4):c.2357T>G (p.Val786Gly)
|
rs990445273
|
|
NM_004260.4(RECQL4):c.2358G>A (p.Val786=)
|
rs2130678043
|
|
NM_004260.4(RECQL4):c.2358_2359insACA (p.Val786_Leu787insThr)
|
|
|
NM_004260.4(RECQL4):c.2359C>G (p.Leu787Val)
|
rs1827613025
|
|
NM_004260.4(RECQL4):c.235G>A (p.Gly79Arg)
|
|
|
NM_004260.4(RECQL4):c.2360T>C (p.Leu787Pro)
|
rs760041795
|
|
NM_004260.4(RECQL4):c.2360T>G (p.Leu787Arg)
|
|
|
NM_004260.4(RECQL4):c.2362C>A (p.His788Asn)
|
rs773864273
|
|
NM_004260.4(RECQL4):c.2362C>T (p.His788Tyr)
|
rs773864273
|
|
NM_004260.4(RECQL4):c.2364T>C (p.His788=)
|
|
|
NM_004260.4(RECQL4):c.2364T>G (p.His788Gln)
|
rs1410031368
|
|
NM_004260.4(RECQL4):c.2365C>G (p.Leu789Val)
|
rs2130677910
|
|
NM_004260.4(RECQL4):c.2365C>T (p.Leu789=)
|
rs2130677910
|
|
NM_004260.4(RECQL4):c.2367G>A (p.Leu789=)
|
|
|
NM_004260.4(RECQL4):c.2368G>A (p.Gly790Arg)
|
|
|
NM_004260.4(RECQL4):c.2369G>A (p.Gly790Glu)
|
|
|
NM_004260.4(RECQL4):c.236G>T (p.Gly79Val)
|
rs1173220801
|
|
NM_004260.4(RECQL4):c.236_237insCA (p.Pro80fs)
|
|
|
NM_004260.4(RECQL4):c.2370G>A (p.Gly790=)
|
rs1586802263
|
|
NM_004260.4(RECQL4):c.2371C>A (p.Leu791Met)
|
rs1240837003
|
|
NM_004260.4(RECQL4):c.2371C>T (p.Leu791=)
|
rs1240837003
|
|
NM_004260.4(RECQL4):c.2372T>C (p.Leu791Pro)
|
rs774894142
|
|
NM_004260.4(RECQL4):c.2373G>A (p.Leu791=)
|
rs1178488618
|
|
NM_004260.4(RECQL4):c.2373G>T (p.Leu791=)
|
rs1178488618
|
|
NM_004260.4(RECQL4):c.2374C>T (p.Pro792Ser)
|
|
|
NM_004260.4(RECQL4):c.2374_2375insT (p.Pro792fs)
|
rs2130677764
|
|
NM_004260.4(RECQL4):c.2378C>G (p.Pro793Arg)
|
|
|
NM_004260.4(RECQL4):c.2378del (p.Pro793fs)
|
|
|
NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs)
|
rs878854645
|
|
NM_004260.4(RECQL4):c.237G>A (p.Gly79=)
|
rs954589490
|
|
NM_004260.4(RECQL4):c.237dup (p.Pro80fs)
|
rs2130736361
|
|
NM_004260.4(RECQL4):c.2382C>T (p.Ser794=)
|
rs1237086719
|
|
NM_004260.4(RECQL4):c.2384T>C (p.Phe795Ser)
|
rs1827608208
|
|
NM_004260.4(RECQL4):c.2385C>A (p.Phe795Leu)
|
rs587778644
|
|
NM_004260.4(RECQL4):c.2385C>G (p.Phe795Leu)
|
rs587778644
|
|
NM_004260.4(RECQL4):c.2388G>C (p.Glu796Asp)
|
|
|
NM_004260.4(RECQL4):c.238C>T (p.Pro80Ser)
|
rs1815251986
|
|
NM_004260.4(RECQL4):c.2392T>C (p.Tyr798His)
|
|
|
NM_004260.4(RECQL4):c.2392_2402dup (p.Val802fs)
|
|
|
NM_004260.4(RECQL4):c.2395G>C (p.Val799Leu)
|
|
|
NM_004260.4(RECQL4):c.2397G>A (p.Val799=)
|
rs1586802025
|
|
NM_004260.4(RECQL4):c.2398C>G (p.Gln800Glu)
|
rs1206089987
|
|
NM_004260.4(RECQL4):c.2398_2404del (p.Gln800fs)
|
|
|
NM_004260.4(RECQL4):c.23G>A (p.Arg8Gln)
|
rs896245546
|
|
NM_004260.4(RECQL4):c.2401G>A (p.Ala801Thr)
|
rs994146252
|
|
NM_004260.4(RECQL4):c.2401G>C (p.Ala801Pro)
|
rs994146252
|
|
NM_004260.4(RECQL4):c.2405_2409dup (p.Arg804fs)
|
rs1827604419
|
|
NM_004260.4(RECQL4):c.2408G>A (p.Gly803Asp)
|
|
|
NM_004260.4(RECQL4):c.2409C>A (p.Gly803=)
|
rs1395156045
|
|
NM_004260.4(RECQL4):c.240C>T (p.Pro80=)
|
rs878854646
|
|
NM_004260.4(RECQL4):c.2412G>T (p.Arg804=)
|
rs2130677053
|
|
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)
|
rs766312203
|
|
NM_004260.4(RECQL4):c.2414C>A (p.Ala805Asp)
|
rs765894032
|
|
NM_004260.4(RECQL4):c.2415C>A (p.Ala805=)
|
rs34735741
|
|
NM_004260.4(RECQL4):c.2415_2419del (p.Ala805_Gly806insTer)
|
rs1564794448
|
|
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs)
|
rs1564794448
|
|
NM_004260.4(RECQL4):c.2417G>C (p.Gly806Ala)
|
rs762456224
|
|
NM_004260.4(RECQL4):c.2418G>A (p.Gly806=)
|
rs774949186
|
|
NM_004260.4(RECQL4):c.2418_2419delinsAG (p.Arg807Gly)
|
rs1827602475
|
|
NM_004260.4(RECQL4):c.241C>A (p.His81Asn)
|
|
|
NM_004260.4(RECQL4):c.241C>T (p.His81Tyr)
|
|
|
NM_004260.4(RECQL4):c.241del (p.His81fs)
|
|
|
NM_004260.4(RECQL4):c.2420G>C (p.Arg807Pro)
|
rs571684398
|
|
NM_004260.4(RECQL4):c.2421_2425del (p.Asp808fs)
|
|
|
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn)
|
rs1423500226
|
|
NM_004260.4(RECQL4):c.2422del (p.Asp808fs)
|
rs1257273728
|
|
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del)
|
rs2130676571
|
|
NM_004260.4(RECQL4):c.242A>G (p.His81Arg)
|
rs1478497967
|
|
NM_004260.4(RECQL4):c.243T>G (p.His81Gln)
|
rs1423806349
|
|
NM_004260.4(RECQL4):c.2441G>A (p.Cys814Tyr)
|
rs1827598421
|
|
NM_004260.4(RECQL4):c.2443C>T (p.His815Tyr)
|
rs1060501371
|
|
NM_004260.4(RECQL4):c.2449T>A (p.Phe817Ile)
|
rs1364205283
|
|
NM_004260.4(RECQL4):c.244C>G (p.Leu82Val)
|
rs749101720
|
|
NM_004260.4(RECQL4):c.244C>T (p.Leu82=)
|
|
|
NM_004260.4(RECQL4):c.2451C>A (p.Phe817Leu)
|
rs778652987
|
|
NM_004260.4(RECQL4):c.2452C>T (p.Leu818=)
|
|
|
NM_004260.4(RECQL4):c.2453T>C (p.Leu818Pro)
|
|
|
NM_004260.4(RECQL4):c.2454G>A (p.Leu818=)
|
rs1586801547
|
|
NM_004260.4(RECQL4):c.2455C>G (p.Gln819Glu)
|
rs2130676259
|
|
NM_004260.4(RECQL4):c.2456A>C (p.Gln819Pro)
|
rs1467362119
|
|
NM_004260.4(RECQL4):c.2458C>G (p.Pro820Ala)
|
rs1827596130
|
|
NM_004260.4(RECQL4):c.2458_2463del (p.Pro820_Gln821del)
|
rs1247860633
|
|
NM_004260.4(RECQL4):c.2459C>T (p.Pro820Leu)
|
rs749090018
|
|
NM_004260.4(RECQL4):c.2461C>T (p.Gln821Ter)
|
rs1827595485
|
|
NM_004260.4(RECQL4):c.2463+10C>A
|
rs752112003
|
|
NM_004260.4(RECQL4):c.2463+10C>T
|
rs752112003
|
|
NM_004260.4(RECQL4):c.2463+2T>C
|
rs2130676059
|
|
NM_004260.4(RECQL4):c.2463+5G>A
|
rs1264630646
|
|
NM_004260.4(RECQL4):c.2463+7_2463+8del
|
rs750392035
|
|
NM_004260.4(RECQL4):c.2463+9C>G
|
rs756789862
|
|
NM_004260.4(RECQL4):c.2463+9C>T
|
rs756789862
|
|
NM_004260.4(RECQL4):c.2463G>C (p.Gln821His)
|
|
|
NM_004260.4(RECQL4):c.2464-10T>G
|
|
|
NM_004260.4(RECQL4):c.2464-11T>C
|
rs2130674407
|
|
NM_004260.4(RECQL4):c.2464-18A>G
|
|
|
NM_004260.4(RECQL4):c.2464-19C>A
|
|
|
NM_004260.4(RECQL4):c.2464-19C>G
|
|
|
NM_004260.4(RECQL4):c.2464-1G>A
|
rs398124117
|
|
NM_004260.4(RECQL4):c.2464-20T>A
|
|
|
NM_004260.4(RECQL4):c.2464-5_2464-4delinsCC
|
rs2130674281
|
|
NM_004260.4(RECQL4):c.2464-5del
|
rs1461062908
|
|
NM_004260.4(RECQL4):c.2464-6C>T
|
rs1172497739
|
|
NM_004260.4(RECQL4):c.2464-7C>T
|
rs1281882665
|
|
NM_004260.4(RECQL4):c.2464-9G>T
|
|
|
NM_004260.4(RECQL4):c.2464G>A (p.Gly822Ser)
|
|
|
NM_004260.4(RECQL4):c.2464_2468del (p.Gly822fs)
|
|
|
NM_004260.4(RECQL4):c.2465G>A (p.Gly822Asp)
|
|
|
NM_004260.4(RECQL4):c.2465G>C (p.Gly822Ala)
|
|
|
NM_004260.4(RECQL4):c.2466C>A (p.Gly822=)
|
rs767528470
|
|
NM_004260.4(RECQL4):c.2466C>T (p.Gly822=)
|
rs767528470
|
|
NM_004260.4(RECQL4):c.2468A>G (p.Glu823Gly)
|
rs2130674107
|
|
NM_004260.4(RECQL4):c.2470G>A (p.Asp824Asn)
|
rs901313954
|
|
NM_004260.4(RECQL4):c.2471A>T (p.Asp824Val)
|
|
|
NM_004260.4(RECQL4):c.2472C>T (p.Asp824=)
|
|
|
NM_004260.4(RECQL4):c.2472_2480del (p.Asp824_Arg826del)
|
rs2130673898
|
|
NM_004260.4(RECQL4):c.2473C>T (p.Leu825=)
|
rs371519199
|
|
NM_004260.4(RECQL4):c.2474T>C (p.Leu825Pro)
|
rs1286406860
|
|
NM_004260.4(RECQL4):c.2474_2476del (p.Leu825del)
|
rs2130673988
|
|
NM_004260.4(RECQL4):c.2475G>A (p.Leu825=)
|
|
|
NM_004260.4(RECQL4):c.2475G>C (p.Leu825=)
|
|
|
NM_004260.4(RECQL4):c.2476C>G (p.Arg826Gly)
|
rs386833851
|
|
NM_004260.4(RECQL4):c.2477G>C (p.Arg826Pro)
|
rs770800467
|
|
NM_004260.4(RECQL4):c.2477G>T (p.Arg826Leu)
|
rs770800467
|
|
NM_004260.4(RECQL4):c.2478A>C (p.Arg826=)
|
|
|
NM_004260.4(RECQL4):c.2479G>C (p.Glu827Gln)
|
|
|
NM_004260.4(RECQL4):c.2479G>T (p.Glu827Ter)
|
|
|
NM_004260.4(RECQL4):c.2480A>G (p.Glu827Gly)
|
rs1827567523
|
|
NM_004260.4(RECQL4):c.2482C>T (p.Leu828=)
|
rs1444716268
|
|
NM_004260.4(RECQL4):c.2483T>A (p.Leu828Gln)
|
rs891542221
|
|
NM_004260.4(RECQL4):c.2483T>C (p.Leu828Pro)
|
|
|
NM_004260.4(RECQL4):c.2484G>A (p.Leu828=)
|
|
|
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His)
|
rs375250269
|
|
NM_004260.4(RECQL4):c.2486_2501del (p.Arg829fs)
|
|
|
NM_004260.4(RECQL4):c.2487C>T (p.Arg829=)
|
rs2130673715
|
|
NM_004260.4(RECQL4):c.2489G>C (p.Arg830Thr)
|
rs747748330
|
|
NM_004260.4(RECQL4):c.2492A>C (p.His831Pro)
|
rs754324912
|
|
NM_004260.4(RECQL4):c.2492dup (p.His831fs)
|
|
|
NM_004260.4(RECQL4):c.2497C>G (p.His833Asp)
|
rs2130673512
|
|
NM_004260.4(RECQL4):c.2497C>T (p.His833Tyr)
|
|
|
NM_004260.4(RECQL4):c.2498A>G (p.His833Arg)
|
|
|
NM_004260.4(RECQL4):c.2499C>G (p.His833Gln)
|
|
|
NM_004260.4(RECQL4):c.24G>T (p.Arg8=)
|
rs2130746321
|
|
NM_004260.4(RECQL4):c.2504A>C (p.Asp835Ala)
|
|
|
NM_004260.4(RECQL4):c.2506_2518del (p.Ser836fs)
|
rs2130673134
|
|
NM_004260.4(RECQL4):c.2507G>A (p.Ser836Asn)
|
rs1827562066
|
|
NM_004260.4(RECQL4):c.2513A>G (p.Asp838Gly)
|
rs1317677692
|
|
NM_004260.4(RECQL4):c.2515T>C (p.Phe839Leu)
|
rs1827560416
|
|
NM_004260.4(RECQL4):c.2516T>C (p.Phe839Ser)
|
|
|
NM_004260.4(RECQL4):c.2517C>G (p.Phe839Leu)
|
|
|
NM_004260.4(RECQL4):c.2517C>T (p.Phe839=)
|
rs2130673158
|
|
NM_004260.4(RECQL4):c.2518C>G (p.Leu840Val)
|
rs201106179
|
|
NM_004260.4(RECQL4):c.2518del (p.Leu840fs)
|
rs2130673117
|
|
NM_004260.4(RECQL4):c.2519T>A (p.Leu840Gln)
|
rs773904395
|
|
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln)
|
rs745596664
|
|
NM_004260.4(RECQL4):c.2520G>A (p.Leu840=)
|
|
|
NM_004260.4(RECQL4):c.2520G>T (p.Leu840=)
|
rs1554897859
|
|
NM_004260.4(RECQL4):c.2521G>A (p.Ala841Thr)
|
|
|
NM_004260.4(RECQL4):c.2521G>C (p.Ala841Pro)
|
|
|
NM_004260.4(RECQL4):c.2521G>T (p.Ala841Ser)
|
|
|
NM_004260.4(RECQL4):c.2529G>T (p.Lys843Asn)
|
rs1554897835
|
|
NM_004260.4(RECQL4):c.252G>C (p.Arg84=)
|
rs1483294893
|
|
NM_004260.4(RECQL4):c.2532_2533delinsTT (p.Arg844Ser)
|
rs2130672839
|
|
NM_004260.4(RECQL4):c.2536G>A (p.Val846Ile)
|
|
|
NM_004260.4(RECQL4):c.2537T>C (p.Val846Ala)
|
rs756449897
|
|
NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter)
|
rs1827556397
|
|
NM_004260.4(RECQL4):c.2542C>G (p.Arg848Gly)
|
rs757540549
|
|
NM_004260.4(RECQL4):c.2544C>G (p.Arg848=)
|
rs200114521
|
|
NM_004260.4(RECQL4):c.2545G>C (p.Val849Leu)
|
rs201661055
|
|
NM_004260.4(RECQL4):c.2545G>T (p.Val849Leu)
|
rs201661055
|
|
NM_004260.4(RECQL4):c.2547G>T (p.Val849=)
|
rs1827554882
|
|
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs)
|
rs778141083
|
|
NM_004260.4(RECQL4):c.2549T>C (p.Phe850Ser)
|
rs2130672533
|
|
NM_004260.4(RECQL4):c.254C>G (p.Ala85Gly)
|
rs756838362
|
|
NM_004260.4(RECQL4):c.254C>T (p.Ala85Val)
|
rs756838362
|
|
NM_004260.4(RECQL4):c.2550C>A (p.Phe850Leu)
|
rs1363197248
|
|
NM_004260.4(RECQL4):c.2550C>G (p.Phe850Leu)
|
rs1363197248
|
|
NM_004260.4(RECQL4):c.2552del (p.Pro851fs)
|
rs1024114400
|
|
NM_004260.4(RECQL4):c.2553A>G (p.Pro851=)
|
rs2130672409
|
|
NM_004260.4(RECQL4):c.2554G>A (p.Ala852Thr)
|
|
|
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2])
|
rs548804317
|
|
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])
|
rs548804317
|
|
NM_004260.4(RECQL4):c.2557TGCACC[5] (p.853CT[5])
|
rs548804317
|
|
NM_004260.4(RECQL4):c.255T>G (p.Ala85=)
|
rs1163167976
|
|
NM_004260.4(RECQL4):c.2560_2561insACTGCA (p.Cys853_Thr854insAsnCys)
|
rs2130672276
|
|
NM_004260.4(RECQL4):c.2561C>G (p.Thr854Ser)
|
|
|
NM_004260.4(RECQL4):c.2561C>T (p.Thr854Ile)
|
rs1167531855
|
|
NM_004260.4(RECQL4):c.2562C>T (p.Thr854=)
|
rs1428902856
|
|
NM_004260.4(RECQL4):c.2563T>A (p.Cys855Ser)
|
|
|
NM_004260.4(RECQL4):c.2564G>C (p.Cys855Ser)
|
|
|
NM_004260.4(RECQL4):c.2565C>T (p.Cys855=)
|
rs768163180
|
|
NM_004260.4(RECQL4):c.2567C>T (p.Thr856Ile)
|
rs1827549635
|
|
NM_004260.4(RECQL4):c.2568C>A (p.Thr856=)
|
rs1401559978
|
|
NM_004260.4(RECQL4):c.2568C>G (p.Thr856=)
|
|
|
NM_004260.4(RECQL4):c.2569T>G (p.Cys857Gly)
|
|
|
NM_004260.4(RECQL4):c.256G>A (p.Ala86Thr)
|
rs2130736069
|
|
NM_004260.4(RECQL4):c.2571_2576del (p.Cys857_Arg859delinsTrp)
|
|
|
NM_004260.4(RECQL4):c.2572A>G (p.Thr858Ala)
|
rs1586799711
|
|
NM_004260.4(RECQL4):c.2573C>G (p.Thr858Ser)
|
rs965539808
|
|
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
|
|
|
NM_004260.4(RECQL4):c.2576G>C (p.Arg859Thr)
|
|
|
NM_004260.4(RECQL4):c.2579C>G (p.Pro860Arg)
|
rs774850992
|
|
NM_004260.4(RECQL4):c.257C>G (p.Ala86Gly)
|
rs1207989827
|
|
NM_004260.4(RECQL4):c.257C>T (p.Ala86Val)
|
|
|
NM_004260.4(RECQL4):c.2583C>G (p.Pro861=)
|
rs746331252
|
|
NM_004260.4(RECQL4):c.2583C>T (p.Pro861=)
|
rs746331252
|
|
NM_004260.4(RECQL4):c.2584T>A (p.Ser862Thr)
|
|
|
NM_004260.4(RECQL4):c.2586G>T (p.Ser862=)
|
rs201012205
|
|
NM_004260.4(RECQL4):c.258G>A (p.Ala86=)
|
rs1815246815
|
|
NM_004260.4(RECQL4):c.258G>C (p.Ala86=)
|
rs1815246815
|
|
NM_004260.4(RECQL4):c.2590C>A (p.Gln864Lys)
|
rs1054186954
|
|
NM_004260.4(RECQL4):c.2592G>A (p.Gln864=)
|
rs878854648
|
|
NM_004260.4(RECQL4):c.2594A>C (p.Glu865Ala)
|
|
|
NM_004260.4(RECQL4):c.2594A>G (p.Glu865Gly)
|
rs1827541741
|
|
NM_004260.4(RECQL4):c.2594A>T (p.Glu865Val)
|
|
|
NM_004260.4(RECQL4):c.2597G>A (p.Gly866Glu)
|
rs1827541354
|
|
NM_004260.4(RECQL4):c.2598G>A (p.Gly866=)
|
|
|
NM_004260.4(RECQL4):c.2598G>C (p.Gly866=)
|
rs1586799490
|
|
NM_004260.4(RECQL4):c.2599G>A (p.Ala867Thr)
|
rs1000281324
|
|
NM_004260.4(RECQL4):c.25G>T (p.Glu9Ter)
|
|
|
NM_004260.4(RECQL4):c.2600C>T (p.Ala867Val)
|
rs2130671496
|
|
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=)
|
rs34358597
|
|
NM_004260.4(RECQL4):c.2601C>T (p.Ala867=)
|
rs34358597
|
|
NM_004260.4(RECQL4):c.2603T>C (p.Val868Ala)
|
|
|
NM_004260.4(RECQL4):c.2609G>C (p.Gly870Ala)
|
rs1827539195
|
|
NM_004260.4(RECQL4):c.2610G>A (p.Gly870=)
|
rs767380939
|
|
NM_004260.4(RECQL4):c.2613G>C (p.Glu871Asp)
|
|
|
NM_004260.4(RECQL4):c.2615G>A (p.Arg872Lys)
|
rs1827538570
|
|
NM_004260.4(RECQL4):c.261C>A (p.Thr87=)
|
rs924413586
|
|
NM_004260.4(RECQL4):c.261C>G (p.Thr87=)
|
rs924413586
|
|
NM_004260.4(RECQL4):c.261C>T (p.Thr87=)
|
rs924413586
|
|
NM_004260.4(RECQL4):c.2620G>A (p.Val874Met)
|
rs1554897651
|
|
NM_004260.4(RECQL4):c.2620G>C (p.Val874Leu)
|
rs1554897651
|
|
NM_004260.4(RECQL4):c.2623C>T (p.Pro875Ser)
|
|
|
NM_004260.4(RECQL4):c.2625C>T (p.Pro875=)
|
rs2130671101
|
|
NM_004260.4(RECQL4):c.2627A>G (p.Lys876Arg)
|
rs2130671089
|
|
NM_004260.4(RECQL4):c.2628G>C (p.Lys876Asn)
|
rs1195462139
|
|
NM_004260.4(RECQL4):c.262A>G (p.Lys88Glu)
|
|
|
NM_004260.4(RECQL4):c.2631C>G (p.Tyr877Ter)
|
rs762591075
|
|
NM_004260.4(RECQL4):c.2632C>A (p.Pro878Thr)
|
|
|
NM_004260.4(RECQL4):c.2634C>G (p.Pro878=)
|
rs769166199
|
|
NM_004260.4(RECQL4):c.2634C>T (p.Pro878=)
|
rs769166199
|
|
NM_004260.4(RECQL4):c.2636C>G (p.Pro879Arg)
|
|
|
NM_004260.4(RECQL4):c.2636C>T (p.Pro879Leu)
|
rs137975310
|
|
NM_004260.4(RECQL4):c.2636_2638del (p.Pro879del)
|
|
|
NM_004260.4(RECQL4):c.2636del (p.Pro879fs)
|
rs1215700016
|
|
NM_004260.4(RECQL4):c.2636dup (p.Gln880fs)
|
rs1215700016
|
|
NM_004260.4(RECQL4):c.2637T>C (p.Pro879=)
|
rs909977633
|
|
NM_004260.4(RECQL4):c.2637T>G (p.Pro879=)
|
|
|
NM_004260.4(RECQL4):c.2638C>A (p.Gln880Lys)
|
|
|
NM_004260.4(RECQL4):c.2638C>T (p.Gln880Ter)
|
rs2130670832
|
|
NM_004260.4(RECQL4):c.263A>G (p.Lys88Arg)
|
|
|
NM_004260.4(RECQL4):c.2641G>A (p.Glu881Lys)
|
rs2130670791
|
|
NM_004260.4(RECQL4):c.2644G>A (p.Ala882Thr)
|
rs771434161
|
|
NM_004260.4(RECQL4):c.2644G>T (p.Ala882Ser)
|
rs771434161
|
|
NM_004260.4(RECQL4):c.2644_2647dup (p.Glu883delinsGlyTer)
|
rs2130670737
|
|
NM_004260.4(RECQL4):c.2645C>T (p.Ala882Val)
|
|
|
NM_004260.4(RECQL4):c.2646T>C (p.Ala882=)
|
|
|
NM_004260.4(RECQL4):c.2647G>C (p.Glu883Gln)
|
|
|
NM_004260.4(RECQL4):c.2648A>G (p.Glu883Gly)
|
rs1305824852
|
|
NM_004260.4(RECQL4):c.2649G>A (p.Glu883=)
|
rs2130670688
|
|
NM_004260.4(RECQL4):c.2650C>G (p.Gln884Glu)
|
|
|
NM_004260.4(RECQL4):c.2650C>T (p.Gln884Ter)
|
|
|
NM_004260.4(RECQL4):c.2654T>G (p.Leu885Arg)
|
|
|
NM_004260.4(RECQL4):c.2657G>A (p.Ser886Asn)
|
|
|
NM_004260.4(RECQL4):c.2661C>A (p.His887Gln)
|
rs2130670528
|
|
NM_004260.4(RECQL4):c.2661C>T (p.His887=)
|
|
|
NM_004260.4(RECQL4):c.2662C>G (p.Gln888Glu)
|
rs1406641581
|
|
NM_004260.4(RECQL4):c.2663A>G (p.Gln888Arg)
|
rs1564792721
|
|
NM_004260.4(RECQL4):c.2664A>C (p.Gln888His)
|
rs779076624
|
|
NM_004260.4(RECQL4):c.2668G>T (p.Ala890Ser)
|
|
|
NM_004260.4(RECQL4):c.2669C>T (p.Ala890Val)
|
rs1827530347
|
|
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn)
|
rs372648595
|
|
NM_004260.4(RECQL4):c.266G>C (p.Ser89Thr)
|
rs372648595
|
|
NM_004260.4(RECQL4):c.2671C>A (p.Pro891Thr)
|
rs757175211
|
|
NM_004260.4(RECQL4):c.2671C>G (p.Pro891Ala)
|
rs757175211
|
|
NM_004260.4(RECQL4):c.2672C>T (p.Pro891Leu)
|
rs2130670349
|
|
NM_004260.4(RECQL4):c.2673A>C (p.Pro891=)
|
rs751424598
|
|
NM_004260.4(RECQL4):c.2675G>A (p.Gly892Glu)
|
rs1461172672
|
|
NM_004260.4(RECQL4):c.2677C>G (p.Pro893Ala)
|
rs1264247879
|
|
NM_004260.4(RECQL4):c.267_268del (p.Pro90fs)
|
|
|
NM_004260.4(RECQL4):c.2680A>C (p.Arg894=)
|
|
|
NM_004260.4(RECQL4):c.2681G>A (p.Arg894Lys)
|
|
|
NM_004260.4(RECQL4):c.2681G>T (p.Arg894Ile)
|
|
|
NM_004260.4(RECQL4):c.2684G>C (p.Arg895Thr)
|
|
|
NM_004260.4(RECQL4):c.2685G>C (p.Arg895Ser)
|
rs1259701902
|
|
NM_004260.4(RECQL4):c.2686G>A (p.Val896Ile)
|
rs762644049
|
|
NM_004260.4(RECQL4):c.2690G>A (p.Cys897Tyr)
|
|
|
NM_004260.4(RECQL4):c.2693T>A (p.Met898Lys)
|
|
|
NM_004260.4(RECQL4):c.2695G>A (p.Gly899Ser)
|
|
|
NM_004260.4(RECQL4):c.2696G>A (p.Gly899Asp)
|
rs1827524891
|
|
NM_004260.4(RECQL4):c.2698C>A (p.His900Asn)
|
|
|
NM_004260.4(RECQL4):c.2698C>T (p.His900Tyr)
|
|
|
NM_004260.4(RECQL4):c.2699A>T (p.His900Leu)
|
|
|
NM_004260.4(RECQL4):c.269C>T (p.Pro90Leu)
|
rs758928559
|
|
NM_004260.4(RECQL4):c.2700T>C (p.His900=)
|
rs1554897521
|
|
NM_004260.4(RECQL4):c.2701G>A (p.Glu901Lys)
|
|
|
NM_004260.4(RECQL4):c.2702A>G (p.Glu901Gly)
|
rs1827523235
|
|
NM_004260.4(RECQL4):c.2707G>A (p.Ala903Thr)
|
rs1827522325
|
|
NM_004260.4(RECQL4):c.2707del (p.Ala903fs)
|
|
|
NM_004260.4(RECQL4):c.2708C>T (p.Ala903Val)
|
|
|
NM_004260.4(RECQL4):c.2709A>C (p.Ala903=)
|
rs2130669801
|
|
NM_004260.4(RECQL4):c.270A>C (p.Pro90=)
|
|
|
NM_004260.4(RECQL4):c.2710C>G (p.Leu904Val)
|
|
|
NM_004260.4(RECQL4):c.2710C>T (p.Leu904Phe)
|
rs748437594
|
|
NM_004260.4(RECQL4):c.2712C>G (p.Leu904=)
|
rs1827521457
|
|
NM_004260.4(RECQL4):c.2712C>T (p.Leu904=)
|
rs1827521457
|
|
NM_004260.4(RECQL4):c.2713C>G (p.Pro905Ala)
|
|
|
NM_004260.4(RECQL4):c.2713C>T (p.Pro905Ser)
|
rs778939539
|
|
NM_004260.4(RECQL4):c.2714C>T (p.Pro905Leu)
|
rs768797926
|
|
NM_004260.4(RECQL4):c.2714_2727del (p.Pro905fs)
|
|
|
NM_004260.4(RECQL4):c.2715A>G (p.Pro905=)
|
rs1463979799
|
|
NM_004260.4(RECQL4):c.2716A>G (p.Ile906Val)
|
rs1261656954
|
|
NM_004260.4(RECQL4):c.2717T>A (p.Ile906Lys)
|
|
|
NM_004260.4(RECQL4):c.2718A>G (p.Ile906Met)
|
|
|
NM_004260.4(RECQL4):c.2719C>T (p.Gln907Ter)
|
rs749389984
|
|
NM_004260.4(RECQL4):c.271C>T (p.Gln91Ter)
|
|
|
NM_004260.4(RECQL4):c.2720A>G (p.Gln907Arg)
|
rs1827518669
|
|
NM_004260.4(RECQL4):c.2721G>A (p.Gln907=)
|
rs1263261186
|
|
NM_004260.4(RECQL4):c.2722C>G (p.Leu908Val)
|
|
|
NM_004260.4(RECQL4):c.2723T>C (p.Leu908Pro)
|
rs1244850943
|
|
NM_004260.4(RECQL4):c.2725A>G (p.Thr909Ala)
|
rs1564792382
|
|
NM_004260.4(RECQL4):c.2726C>T (p.Thr909Ile)
|
rs1586798501
|
|
NM_004260.4(RECQL4):c.2730_2732del (p.Gln911del)
|
|
|
NM_004260.4(RECQL4):c.2734G>A (p.Ala912Thr)
|
|
|
NM_004260.4(RECQL4):c.2735C>G (p.Ala912Gly)
|
rs752408076
|
|
NM_004260.4(RECQL4):c.2736T>C (p.Ala912=)
|
|
|
NM_004260.4(RECQL4):c.2736T>G (p.Ala912=)
|
rs1013860595
|
|
NM_004260.4(RECQL4):c.2739G>A (p.Leu913=)
|
rs2130669385
|
|
NM_004260.4(RECQL4):c.2740G>A (p.Asp914Asn)
|
rs371327041
|
|
NM_004260.4(RECQL4):c.2740G>C (p.Asp914His)
|
rs371327041
|
|
NM_004260.4(RECQL4):c.2744T>C (p.Met915Thr)
|
rs1165798216
|
|
NM_004260.4(RECQL4):c.2746C>A (p.Pro916Thr)
|
|
|
NM_004260.4(RECQL4):c.2746C>T (p.Pro916Ser)
|
rs1827511034
|
|
NM_004260.4(RECQL4):c.2747C>A (p.Pro916Gln)
|
|
|
NM_004260.4(RECQL4):c.2749G>T (p.Glu917Ter)
|
|
|
NM_004260.4(RECQL4):c.274_275delinsCG (p.Ser92Arg)
|
|
|
NM_004260.4(RECQL4):c.274_275delinsCT (p.Ser92Leu)
|
rs587778649
|
|
NM_004260.4(RECQL4):c.2750A>G (p.Glu917Gly)
|
|
|
NM_004260.4(RECQL4):c.2750AGG[1] (p.Glu918del)
|
rs755113079
|
|
NM_004260.4(RECQL4):c.2752G>A (p.Glu918Lys)
|
rs762028333
|
|
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter)
|
rs762028333
|
|
NM_004260.4(RECQL4):c.2755+12G>C
|
|
|
NM_004260.4(RECQL4):c.2755+13G>C
|
|
|
NM_004260.4(RECQL4):c.2755+17A>G
|
rs1269526311
|
|
NM_004260.4(RECQL4):c.2755+18A>G
|
rs747958529
|
|
NM_004260.4(RECQL4):c.2755+19G>A
|
|
|
NM_004260.4(RECQL4):c.2755+20C>G
|
rs1328270719
|
|
NM_004260.4(RECQL4):c.2755+5G>A
|
rs1280919842
|
|
NM_004260.4(RECQL4):c.2755+9C>G
|
|
|
NM_004260.4(RECQL4):c.2755+9C>T
|
rs749496256
|
|
NM_004260.4(RECQL4):c.2756-10C>G
|
rs748950139
|
|
NM_004260.4(RECQL4):c.2756-13G>A
|
|
|
NM_004260.4(RECQL4):c.2756-13G>C
|
rs2130668084
|
|
NM_004260.4(RECQL4):c.2756-16C>G
|
|
|
NM_004260.4(RECQL4):c.2756-17C>A
|
|
|
NM_004260.4(RECQL4):c.2756-17C>T
|
rs531236566
|
|
NM_004260.4(RECQL4):c.2756-18G>A
|
|
|
NM_004260.4(RECQL4):c.2756-19_2756-13del
|
|
|
NM_004260.4(RECQL4):c.2756-1G>A
|
rs1564791894
|
|
NM_004260.4(RECQL4):c.2756-20G>A
|
rs2130668218
|
|
NM_004260.4(RECQL4):c.2756-23_2756-16del
|
|
|
NM_004260.4(RECQL4):c.2756-34_2756-8del
|
|
|
NM_004260.4(RECQL4):c.2756-3dup
|
|
|
NM_004260.4(RECQL4):c.2756-5C>G
|
rs541518527
|
|
NM_004260.4(RECQL4):c.2756-6C>G
|
rs369289550
|
|
NM_004260.4(RECQL4):c.2756-7C>T
|
rs1014958541
|
|
NM_004260.4(RECQL4):c.2756-8G>A
|
rs372723857
|
|
NM_004260.4(RECQL4):c.2756-9T>C
|
rs2130668003
|
|
NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met)
|
rs752058642
|
|
NM_004260.4(RECQL4):c.2760C>T (p.Ile920=)
|
rs752058642
|
|
NM_004260.4(RECQL4):c.2767_2768del (p.Leu923fs)
|
rs757032044
|
|
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
|
|
|
NM_004260.4(RECQL4):c.2769G>T (p.Leu923Phe)
|
rs368618566
|
|
NM_004260.4(RECQL4):c.2770C>T (p.Leu924=)
|
|
|
NM_004260.4(RECQL4):c.2771T>C (p.Leu924Pro)
|
rs1827488371
|
|
NM_004260.4(RECQL4):c.2771T>G (p.Leu924Arg)
|
rs1827488371
|
|
NM_004260.4(RECQL4):c.2775C>G (p.Cys925Trp)
|
rs376838923
|
|
NM_004260.4(RECQL4):c.2776T>A (p.Tyr926Asn)
|
|
|
NM_004260.4(RECQL4):c.2776T>C (p.Tyr926His)
|
rs1060501365
|
|
NM_004260.4(RECQL4):c.2777A>G (p.Tyr926Cys)
|
rs1280395082
|
|
NM_004260.4(RECQL4):c.2779C>G (p.Leu927Val)
|
rs372304382
|
|
NM_004260.4(RECQL4):c.2779C>T (p.Leu927=)
|
rs372304382
|
|
NM_004260.4(RECQL4):c.277A>G (p.Thr93Ala)
|
rs1815241311
|
|
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)
|
rs774274636
|
|
NM_004260.4(RECQL4):c.2781G>A (p.Leu927=)
|
rs2130667401
|
|
NM_004260.4(RECQL4):c.2784G>C (p.Glu928Asp)
|
rs1827486203
|
|
NM_004260.4(RECQL4):c.2785C>T (p.Leu929=)
|
rs2130667358
|
|
NM_004260.4(RECQL4):c.2787G>A (p.Leu929=)
|
|
|
NM_004260.4(RECQL4):c.2789A>G (p.His930Arg)
|
rs1586797279
|
|
NM_004260.4(RECQL4):c.2789_2812del (p.His930_Leu937del)
|
rs1827481798
|
|
NM_004260.4(RECQL4):c.2790C>G (p.His930Gln)
|
|
|
NM_004260.4(RECQL4):c.2791C>A (p.Pro931Thr)
|
|
|
NM_004260.4(RECQL4):c.2791C>G (p.Pro931Ala)
|
rs768352855
|
|
NM_004260.4(RECQL4):c.2793A>C (p.Pro931=)
|
rs2130667230
|
|
NM_004260.4(RECQL4):c.2794C>T (p.His932Tyr)
|
rs1554897279
|
|
NM_004260.4(RECQL4):c.2795A>G (p.His932Arg)
|
|
|
NM_004260.4(RECQL4):c.2796C>G (p.His932Gln)
|
rs1827484697
|
|
NM_004260.4(RECQL4):c.2798A>G (p.His933Arg)
|
rs1554897277
|
|
NM_004260.4(RECQL4):c.2799C>G (p.His933Gln)
|
|
|
NM_004260.4(RECQL4):c.27G>A (p.Glu9=)
|
rs1554905164
|
|
NM_004260.4(RECQL4):c.2800T>C (p.Trp934Arg)
|
|
|
NM_004260.4(RECQL4):c.2800T>G (p.Trp934Gly)
|
rs1827484063
|
|
NM_004260.4(RECQL4):c.2802G>A (p.Trp934Ter)
|
rs1827483654
|
|
NM_004260.4(RECQL4):c.2802G>C (p.Trp934Cys)
|
|
|
NM_004260.4(RECQL4):c.2803C>G (p.Leu935Val)
|
rs745494721
|
|
NM_004260.4(RECQL4):c.2803C>T (p.Leu935=)
|
|
|
NM_004260.4(RECQL4):c.2808G>A (p.Glu936=)
|
rs1442521340
|
|
NM_004260.4(RECQL4):c.2808G>C (p.Glu936Asp)
|
rs1442521340
|
|
NM_004260.4(RECQL4):c.2809C>G (p.Leu937Val)
|
rs1827482477
|
|
NM_004260.4(RECQL4):c.2809C>T (p.Leu937=)
|
rs1827482477
|
|
NM_004260.4(RECQL4):c.2811G>C (p.Leu937=)
|
rs368178215
|
|
NM_004260.4(RECQL4):c.2812C>T (p.Leu938=)
|
rs2130666915
|
|
NM_004260.4(RECQL4):c.2814G>A (p.Leu938=)
|
rs1184120833
|
|
NM_004260.4(RECQL4):c.2816C>A (p.Ala939Glu)
|
rs561220929
|
|
NM_004260.4(RECQL4):c.2817G>C (p.Ala939=)
|
rs202045203
|
|
NM_004260.4(RECQL4):c.281C>T (p.Pro94Leu)
|
rs1586830544
|
|
NM_004260.4(RECQL4):c.2822C>T (p.Thr941Ile)
|
rs1060501368
|
|
NM_004260.4(RECQL4):c.2824T>C (p.Tyr942His)
|
rs1827479492
|
|
NM_004260.4(RECQL4):c.2825A>C (p.Tyr942Ser)
|
rs1586797102
|
|
NM_004260.4(RECQL4):c.2825A>G (p.Tyr942Cys)
|
|
|
NM_004260.4(RECQL4):c.2826_2827dup (p.Thr943fs)
|
|
|
NM_004260.4(RECQL4):c.2828C>T (p.Thr943Ile)
|
rs1827478545
|
|
NM_004260.4(RECQL4):c.2829C>T (p.Thr943=)
|
|
|
NM_004260.4(RECQL4):c.2832T>A (p.His944Gln)
|
rs754047453
|
|
NM_004260.4(RECQL4):c.2833T>C (p.Cys945Arg)
|
|
|
NM_004260.4(RECQL4):c.2834G>A (p.Cys945Tyr)
|
rs1554897223
|
|
NM_004260.4(RECQL4):c.2835C>T (p.Cys945=)
|
rs2130666512
|
|
NM_004260.4(RECQL4):c.2839C>G (p.Leu947Val)
|
|
|
NM_004260.4(RECQL4):c.2839C>T (p.Leu947=)
|
rs1327327028
|
|
NM_004260.4(RECQL4):c.283G>C (p.Gly95Arg)
|
rs1564810489
|
|
NM_004260.4(RECQL4):c.2841G>C (p.Leu947=)
|
rs1827476523
|
|
NM_004260.4(RECQL4):c.2846G>T (p.Cys949Phe)
|
|
|
NM_004260.4(RECQL4):c.2849C>T (p.Pro950Leu)
|
|
|
NM_004260.4(RECQL4):c.2849del (p.Pro950fs)
|
|
|
NM_004260.4(RECQL4):c.284G>C (p.Gly95Ala)
|
rs2130735581
|
|
NM_004260.4(RECQL4):c.2850T>G (p.Pro950=)
|
|
|
NM_004260.4(RECQL4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_004260.4(RECQL4):c.2852G>C (p.Gly951Ala)
|
|
|
NM_004260.4(RECQL4):c.2853G>A (p.Gly951=)
|
rs2130666267
|
|
NM_004260.4(RECQL4):c.2853G>C (p.Gly951=)
|
rs2130666267
|
|
NM_004260.4(RECQL4):c.2853_2869dup (p.Gln957fs)
|
|
|
NM_004260.4(RECQL4):c.2854G>A (p.Gly952Ser)
|
rs2130666255
|
|
NM_004260.4(RECQL4):c.2857C>A (p.Pro953Thr)
|
|
|
NM_004260.4(RECQL4):c.2857C>G (p.Pro953Ala)
|
rs2130666187
|
|
NM_004260.4(RECQL4):c.2858C>G (p.Pro953Arg)
|
|
|
NM_004260.4(RECQL4):c.2858C>T (p.Pro953Leu)
|
|
|
NM_004260.4(RECQL4):c.2859T>C (p.Pro953=)
|
rs1586796827
|
|
NM_004260.4(RECQL4):c.285G>A (p.Gly95=)
|
|
|
NM_004260.4(RECQL4):c.2860G>C (p.Ala954Pro)
|
rs1564791493
|
|
NM_004260.4(RECQL4):c.2861C>A (p.Ala954Asp)
|
rs746594220
|
|
NM_004260.4(RECQL4):c.2861C>T (p.Ala954Val)
|
rs746594220
|
|
NM_004260.4(RECQL4):c.2861_2877del (p.Ala954fs)
|
rs1208137808
|
|
NM_004260.4(RECQL4):c.2862C>T (p.Ala954=)
|
|
|
NM_004260.4(RECQL4):c.2863C>T (p.Gln955Ter)
|
|
|
NM_004260.4(RECQL4):c.2864A>G (p.Gln955Arg)
|
rs1827473213
|
|
NM_004260.4(RECQL4):c.2866C>T (p.Leu956Phe)
|
rs1827472743
|
|
NM_004260.4(RECQL4):c.2866_2885+19del
|
rs1554897134
|
|
NM_004260.4(RECQL4):c.2868C>T (p.Leu956=)
|
rs1586796769
|
|
NM_004260.4(RECQL4):c.286C>T (p.Arg96Trp)
|
|
|
NM_004260.4(RECQL4):c.2870A>G (p.Gln957Arg)
|
|
|
NM_004260.4(RECQL4):c.2871G>C (p.Gln957His)
|
rs548485975
|
|
NM_004260.4(RECQL4):c.2872G>A (p.Ala958Thr)
|
rs1564791450
|
|
NM_004260.4(RECQL4):c.2872G>C (p.Ala958Pro)
|
rs1564791450
|
|
NM_004260.4(RECQL4):c.2872_2873delinsTT (p.Ala958Phe)
|
rs2130665884
|
|
NM_004260.4(RECQL4):c.2873C>G (p.Ala958Gly)
|
rs758952928
|
|
NM_004260.4(RECQL4):c.2876T>C (p.Leu959Pro)
|
rs1554897159
|
|
NM_004260.4(RECQL4):c.2876T>G (p.Leu959Arg)
|
rs1554897159
|
|
NM_004260.4(RECQL4):c.2878G>T (p.Ala960Ser)
|
|
|
NM_004260.4(RECQL4):c.2878_2885+14del
|
|
|
NM_004260.4(RECQL4):c.2879C>G (p.Ala960Gly)
|
rs373651108
|
|
NM_004260.4(RECQL4):c.287G>A (p.Arg96Gln)
|
|
|
NM_004260.4(RECQL4):c.287_300dup (p.Ser101fs)
|
|
|
NM_004260.4(RECQL4):c.2880C>A (p.Ala960=)
|
|
|
NM_004260.4(RECQL4):c.2880C>G (p.Ala960=)
|
rs766684128
|
|
NM_004260.4(RECQL4):c.2885+10C>A
|
rs1827465978
|
|
NM_004260.4(RECQL4):c.2885+10C>T
|
rs1827465978
|
|
NM_004260.4(RECQL4):c.2885+12C>G
|
rs775528539
|
|
NM_004260.4(RECQL4):c.2885+12C>T
|
rs775528539
|
|
NM_004260.4(RECQL4):c.2885+13T>A
|
rs1330356044
|
|
NM_004260.4(RECQL4):c.2885+13T>C
|
|
|
NM_004260.4(RECQL4):c.2885+14G>A
|
rs1827465246
|
|
NM_004260.4(RECQL4):c.2885+14G>T
|
|
|
NM_004260.4(RECQL4):c.2885+15C>T
|
|
|
NM_004260.4(RECQL4):c.2885+18A>T
|
rs2130665369
|
|
NM_004260.4(RECQL4):c.2885+1G>T
|
rs1176959485
|
|
NM_004260.4(RECQL4):c.2885+20T>C
|
rs555930479
|
|
NM_004260.4(RECQL4):c.2885+20T>G
|
rs555930479
|
|
NM_004260.4(RECQL4):c.2885+5G>C
|
|
|
NM_004260.4(RECQL4):c.2885+6C>T
|
rs1827466838
|
|
NM_004260.4(RECQL4):c.2885+7A>T
|
|
|
NM_004260.4(RECQL4):c.2885+8C>A
|
rs370547126
|
|
NM_004260.4(RECQL4):c.2885G>A (p.Arg962Lys)
|
rs577462627
|
|
NM_004260.4(RECQL4):c.2886-11C>T
|
|
|
NM_004260.4(RECQL4):c.2886-13T>A
|
|
|
NM_004260.4(RECQL4):c.2886-13T>C
|
|
|
NM_004260.4(RECQL4):c.2886-15T>C
|
rs2130664624
|
|
NM_004260.4(RECQL4):c.2886-18_2886-17del
|
|
|
NM_004260.4(RECQL4):c.2886-18dup
|
rs1827455234
|
|
NM_004260.4(RECQL4):c.2886-1G>A
|
|
|
NM_004260.4(RECQL4):c.2886-20C>G
|
rs780253117
|
|
NM_004260.4(RECQL4):c.2886-20C>T
|
|
|
NM_004260.4(RECQL4):c.2886-2A>G
|
rs1402322681
|
|
NM_004260.4(RECQL4):c.2886-3C>G
|
rs765331236
|
|
NM_004260.4(RECQL4):c.2886-4A>C
|
rs1554897071
|
|
NM_004260.4(RECQL4):c.2886-6G>A
|
rs752697206
|
|
NM_004260.4(RECQL4):c.2886-7G>A
|
rs757341042
|
|
NM_004260.4(RECQL4):c.2886-9T>C
|
rs1388223940
|
|
NM_004260.4(RECQL4):c.2886G>C (p.Arg962Ser)
|
|
|
NM_004260.4(RECQL4):c.2889del (p.Pro965fs)
|
rs1586795973
|
|
NM_004260.4(RECQL4):c.2890C>T (p.Pro964Ser)
|
rs33972310
|
|
NM_004260.4(RECQL4):c.2891C>G (p.Pro964Arg)
|
|
|
NM_004260.4(RECQL4):c.2891C>T (p.Pro964Leu)
|
|
|
NM_004260.4(RECQL4):c.2892C>T (p.Pro964=)
|
rs776537316
|
|
NM_004260.4(RECQL4):c.2894C>A (p.Pro965His)
|
|
|
NM_004260.4(RECQL4):c.2894C>G (p.Pro965Arg)
|
|
|
NM_004260.4(RECQL4):c.2895T>G (p.Pro965=)
|
|
|
NM_004260.4(RECQL4):c.2899G>T (p.Ala967Ser)
|
rs2130664179
|
|
NM_004260.4(RECQL4):c.28C>G (p.Arg10Gly)
|
rs757678397
|
|
NM_004260.4(RECQL4):c.2900C>G (p.Ala967Gly)
|
rs1827447336
|
|
NM_004260.4(RECQL4):c.2901T>C (p.Ala967=)
|
rs1827447042
|
|
NM_004260.4(RECQL4):c.2901_2912del (p.Val968_Ala971del)
|
rs1827445302
|
|
NM_004260.4(RECQL4):c.2902G>C (p.Val968Leu)
|
rs1060501382
|
|
NM_004260.4(RECQL4):c.2903T>C (p.Val968Ala)
|
|
|
NM_004260.4(RECQL4):c.2904G>A (p.Val968=)
|
rs1554897039
|
|
NM_004260.4(RECQL4):c.2904G>T (p.Val968=)
|
|
|
NM_004260.4(RECQL4):c.2907C>T (p.Cys969=)
|
rs772780752
|
|
NM_004260.4(RECQL4):c.290G>A (p.Ser97Asn)
|
rs773114060
|
|
NM_004260.4(RECQL4):c.291C>A (p.Ser97Arg)
|
rs762806249
|
|
NM_004260.4(RECQL4):c.291C>T (p.Ser97=)
|
rs762806249
|
|
NM_004260.4(RECQL4):c.2920C>G (p.Leu974Val)
|
rs1263288809
|
|
NM_004260.4(RECQL4):c.2920C>T (p.Leu974=)
|
rs1263288809
|
|
NM_004260.4(RECQL4):c.2924C>T (p.Pro975Leu)
|
rs769194048
|
|
NM_004260.4(RECQL4):c.2924del (p.Pro975fs)
|
|
|
NM_004260.4(RECQL4):c.2925T>C (p.Pro975=)
|
|
|
NM_004260.4(RECQL4):c.2928G>A (p.Glu976=)
|
|
|
NM_004260.4(RECQL4):c.292C>T (p.Arg98Cys)
|
rs2130735434
|
|
NM_004260.4(RECQL4):c.2931C>T (p.Asp977=)
|
|
|
NM_004260.4(RECQL4):c.2933C>T (p.Pro978Leu)
|
rs746107365
|
|
NM_004260.4(RECQL4):c.2934A>C (p.Pro978=)
|
|
|
NM_004260.4(RECQL4):c.2935G>A (p.Gly979Arg)
|
rs587778645
|
|
NM_004260.4(RECQL4):c.2936G>A (p.Gly979Glu)
|
rs1564790952
|
|
NM_004260.4(RECQL4):c.2939A>G (p.Gln980Arg)
|
|
|
NM_004260.4(RECQL4):c.293G>A (p.Arg98His)
|
|
|
NM_004260.4(RECQL4):c.293G>T (p.Arg98Leu)
|
rs769634470
|
|
NM_004260.4(RECQL4):c.293_294delinsAA (p.Arg98Gln)
|
|
|
NM_004260.4(RECQL4):c.2940A>G (p.Gln980=)
|
|
|
NM_004260.4(RECQL4):c.2941G>T (p.Gly981Cys)
|
rs757541591
|
|
NM_004260.4(RECQL4):c.2941_2942insTTCCAA (p.Gly981delinsValProSer)
|
rs776993029
|
|
NM_004260.4(RECQL4):c.2942G>A (p.Gly981Asp)
|
|
|
NM_004260.4(RECQL4):c.2943C>G (p.Gly981=)
|
rs1362234337
|
|
NM_004260.4(RECQL4):c.2943C>T (p.Gly981=)
|
|
|
NM_004260.4(RECQL4):c.2944A>C (p.Ser982Arg)
|
rs2130663507
|
|
NM_004260.4(RECQL4):c.2944A>G (p.Ser982Gly)
|
|
|
NM_004260.4(RECQL4):c.2945G>C (p.Ser982Thr)
|
rs1158680101
|
|
NM_004260.4(RECQL4):c.2946C>T (p.Ser982=)
|
rs2130663477
|
|
NM_004260.4(RECQL4):c.2948G>A (p.Ser983Asn)
|
rs1586795561
|
|
NM_004260.4(RECQL4):c.294C>T (p.Arg98=)
|
rs2130735408
|
|
NM_004260.4(RECQL4):c.2950T>A (p.Ser984Thr)
|
|
|
NM_004260.4(RECQL4):c.2951C>A (p.Ser984Tyr)
|
|
|
NM_004260.4(RECQL4):c.2951C>T (p.Ser984Phe)
|
rs777976493
|
|
NM_004260.4(RECQL4):c.2952_2958del (p.Val985fs)
|
rs1259761865
|
|
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu)
|
rs200629599
|
|
NM_004260.4(RECQL4):c.2955G>C (p.Val985=)
|
rs1244297736
|
|
NM_004260.4(RECQL4):c.2956G>A (p.Glu986Lys)
|
rs1362276556
|
|
NM_004260.4(RECQL4):c.2957A>C (p.Glu986Ala)
|
|
|
NM_004260.4(RECQL4):c.2960T>G (p.Phe987Cys)
|
|
|
NM_004260.4(RECQL4):c.2961T>A (p.Phe987Leu)
|
rs1060501363
|
|
NM_004260.4(RECQL4):c.2961T>G (p.Phe987Leu)
|
rs1060501363
|
|
NM_004260.4(RECQL4):c.2962G>A (p.Asp988Asn)
|
rs1554896950
|
|
NM_004260.4(RECQL4):c.2962G>T (p.Asp988Tyr)
|
rs1554896950
|
|
NM_004260.4(RECQL4):c.2964C>G (p.Asp988Glu)
|
rs1564790791
|
|
NM_004260.4(RECQL4):c.2964C>T (p.Asp988=)
|
|
|
NM_004260.4(RECQL4):c.2966T>C (p.Met989Thr)
|
rs767220757
|
|
NM_004260.4(RECQL4):c.296A>G (p.Gln99Arg)
|
rs1586830416
|
|
NM_004260.4(RECQL4):c.2970C>A (p.Val990=)
|
rs2130663010
|
|
NM_004260.4(RECQL4):c.2970C>G (p.Val990=)
|
rs2130663010
|
|
NM_004260.4(RECQL4):c.2971A>G (p.Lys991Glu)
|
|
|
NM_004260.4(RECQL4):c.2973G>A (p.Lys991=)
|
rs763547531
|
|
NM_004260.4(RECQL4):c.2974C>G (p.Leu992Val)
|
rs1564790741
|
|
NM_004260.4(RECQL4):c.2978T>C (p.Val993Ala)
|
rs2130662892
|
|
NM_004260.4(RECQL4):c.2978T>G (p.Val993Gly)
|
|
|
NM_004260.4(RECQL4):c.2979G>A (p.Val993=)
|
|
|
NM_004260.4(RECQL4):c.2980G>A (p.Asp994Asn)
|
rs1827434628
|
|
NM_004260.4(RECQL4):c.2981A>C (p.Asp994Ala)
|
|
|
NM_004260.4(RECQL4):c.2988G>A (p.Met996Ile)
|
rs1827433430
|
|
NM_004260.4(RECQL4):c.2989G>A (p.Gly997Ser)
|
rs948234493
|
|
NM_004260.4(RECQL4):c.2991C>T (p.Gly997=)
|
|
|
NM_004260.4(RECQL4):c.2993G>A (p.Trp998Ter)
|
|
|
NM_004260.4(RECQL4):c.2995G>C (p.Glu999Gln)
|
|
|
NM_004260.4(RECQL4):c.2997G>T (p.Glu999Asp)
|
rs902652277
|
|
NM_004260.4(RECQL4):c.2998del (p.Leu1000fs)
|
rs1827432061
|
|
NM_004260.4(RECQL4):c.299G>A (p.Gly100Asp)
|
rs1815236076
|
|
NM_004260.4(RECQL4):c.2T>C (p.Met1Thr)
|
rs1815451689
|
|
NM_004260.4(RECQL4):c.3001G>A (p.Ala1001Thr)
|
|
|
NM_004260.4(RECQL4):c.3001G>C (p.Ala1001Pro)
|
rs2130662576
|
|
NM_004260.4(RECQL4):c.3003C>T (p.Ala1001=)
|
rs1564790603
|
|
NM_004260.4(RECQL4):c.3005C>T (p.Ser1002Phe)
|
|
|
NM_004260.4(RECQL4):c.3008_3009del (p.Val1003fs)
|
rs1586795055
|
|
NM_004260.4(RECQL4):c.3010C>A (p.Arg1004=)
|
|
|
NM_004260.4(RECQL4):c.3012G>A (p.Arg1004=)
|
|
|
NM_004260.4(RECQL4):c.3013_3014delinsTA (p.Arg1005Ter)
|
|
|
NM_004260.4(RECQL4):c.3018T>A (p.Ala1006=)
|
rs2130662277
|
|
NM_004260.4(RECQL4):c.3018T>C (p.Ala1006=)
|
rs2130662277
|
|
NM_004260.4(RECQL4):c.3018T>G (p.Ala1006=)
|
rs2130662277
|
|
NM_004260.4(RECQL4):c.3022T>A (p.Cys1008Ser)
|
|
|
NM_004260.4(RECQL4):c.3022T>C (p.Cys1008Arg)
|
rs762312510
|
|
NM_004260.4(RECQL4):c.3022dup (p.Cys1008fs)
|
|
|
NM_004260.4(RECQL4):c.3023G>A (p.Cys1008Tyr)
|
rs1564790487
|
|
NM_004260.4(RECQL4):c.3024C>T (p.Cys1008=)
|
|
|
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter)
|
rs1564790457
|
|
NM_004260.4(RECQL4):c.3025del (p.Gln1009fs)
|
|
|
NM_004260.4(RECQL4):c.3028C>G (p.Leu1010Val)
|
rs1373023053
|
|
NM_004260.4(RECQL4):c.3028C>T (p.Leu1010=)
|
rs1373023053
|
|
NM_004260.4(RECQL4):c.3029T>C (p.Leu1010Pro)
|
rs1827424443
|
|
NM_004260.4(RECQL4):c.3033G>A (p.Gln1011=)
|
rs1478532229
|
|
NM_004260.4(RECQL4):c.3034T>C (p.Trp1012Arg)
|
|
|
NM_004260.4(RECQL4):c.3035G>A (p.Trp1012Ter)
|
rs2130662004
|
|
NM_004260.4(RECQL4):c.3037G>A (p.Asp1013Asn)
|
|
|
NM_004260.4(RECQL4):c.3037G>T (p.Asp1013Tyr)
|
|
|
NM_004260.4(RECQL4):c.3038A>C (p.Asp1013Ala)
|
rs898859819
|
|
NM_004260.4(RECQL4):c.303G>A (p.Ser101=)
|
rs777361751
|
|
NM_004260.4(RECQL4):c.3040C>T (p.His1014Tyr)
|
rs760096494
|
|
NM_004260.4(RECQL4):c.3040_3042del (p.His1014del)
|
rs1827421175
|
|
NM_004260.4(RECQL4):c.3040del (p.His1014fs)
|
|
|
NM_004260.4(RECQL4):c.3041A>C (p.His1014Pro)
|
|
|
NM_004260.4(RECQL4):c.3043G>C (p.Glu1015Gln)
|
rs771381171
|
|
NM_004260.4(RECQL4):c.3046C>T (p.Pro1016Ser)
|
rs1158975362
|
|
NM_004260.4(RECQL4):c.3050G>A (p.Arg1017Lys)
|
rs1554896820
|
|
NM_004260.4(RECQL4):c.3050G>C (p.Arg1017Thr)
|
|
|
NM_004260.4(RECQL4):c.3051G>A (p.Arg1017=)
|
|
|
NM_004260.4(RECQL4):c.3055+10_3055+11del
|
|
|
NM_004260.4(RECQL4):c.3055+11C>T
|
rs2130661515
|
|
NM_004260.4(RECQL4):c.3055+12C>G
|
|
|
NM_004260.4(RECQL4):c.3055+13C>T
|
|
|
NM_004260.4(RECQL4):c.3055+14C>T
|
|
|
NM_004260.4(RECQL4):c.3055+15A>G
|
rs1325875335
|
|
NM_004260.4(RECQL4):c.3055+16C>T
|
|
|
NM_004260.4(RECQL4):c.3055+17C>G
|
|
|
NM_004260.4(RECQL4):c.3055+18C>G
|
|
|
NM_004260.4(RECQL4):c.3055+19del
|
rs1564790269
|
|
NM_004260.4(RECQL4):c.3055+1G>A
|
rs368585080
|
|
NM_004260.4(RECQL4):c.3055+1del
|
rs1586794620
|
|
NM_004260.4(RECQL4):c.3055+20A>G
|
|
|
NM_004260.4(RECQL4):c.3055+2T>C
|
rs2130661643
|
|
NM_004260.4(RECQL4):c.3055+3G>A
|
|
|
NM_004260.4(RECQL4):c.3055+5G>T
|
|
|
NM_004260.4(RECQL4):c.3055+7C>T
|
rs372511135
|
|
NM_004260.4(RECQL4):c.3055+9C>T
|
rs2130661528
|
|
NM_004260.4(RECQL4):c.3056-11C>G
|
rs374983038
|
|
NM_004260.4(RECQL4):c.3056-16A>G
|
|
|
NM_004260.4(RECQL4):c.3056-17G>A
|
|
|
NM_004260.4(RECQL4):c.3056-1G>A
|
|
|
NM_004260.4(RECQL4):c.3056-1G>T
|
|
|
NM_004260.4(RECQL4):c.3056-20T>A
|
|
|
NM_004260.4(RECQL4):c.3056-2A>G
|
|
|
NM_004260.4(RECQL4):c.3056-4G>A
|
rs2130660782
|
|
NM_004260.4(RECQL4):c.3056-4G>T
|
rs2130660782
|
|
NM_004260.4(RECQL4):c.3056-4_3069del
|
|
|
NM_004260.4(RECQL4):c.3056-5G>T
|
rs774320251
|
|
NM_004260.4(RECQL4):c.3056-7C>A
|
rs2130660831
|
|
NM_004260.4(RECQL4):c.3056-7C>G
|
|
|
NM_004260.4(RECQL4):c.3056G>A (p.Gly1019Asp)
|
|
|
NM_004260.4(RECQL4):c.3058G>T (p.Val1020Leu)
|
|
|
NM_004260.4(RECQL4):c.305_310dup (p.Val102_Pro103dup)
|
rs1362235551
|
|
NM_004260.4(RECQL4):c.3060G>C (p.Val1020=)
|
rs768374433
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004260.4(RECQL4):c.3062G>C (p.Arg1021Pro)
|
rs34666647
|
|
NM_004260.4(RECQL4):c.3062_3079dup (p.Arg1021_Val1026dup)
|
rs1310379257
|
|
NM_004260.4(RECQL4):c.3063G>C (p.Arg1021=)
|
rs940837869
|
|
NM_004260.4(RECQL4):c.3065G>C (p.Arg1022Pro)
|
rs560476442
|
|
NM_004260.4(RECQL4):c.3065G>T (p.Arg1022Leu)
|
rs560476442
|
|
NM_004260.4(RECQL4):c.3067G>A (p.Gly1023Arg)
|
rs1586793995
|
|
NM_004260.4(RECQL4):c.3067G>C (p.Gly1023Arg)
|
|
|
NM_004260.4(RECQL4):c.3068G>A (p.Gly1023Glu)
|
rs764657835
|
|
NM_004260.4(RECQL4):c.3068G>C (p.Gly1023Ala)
|
rs764657835
|
|
NM_004260.4(RECQL4):c.3069G>A (p.Gly1023=)
|
|
|
NM_004260.4(RECQL4):c.3069G>C (p.Gly1023=)
|
rs1827398356
|
|
NM_004260.4(RECQL4):c.306G>A (p.Val102=)
|
rs2130735160
|
|
NM_004260.4(RECQL4):c.3070A>C (p.Thr1024Pro)
|
rs1454305448
|
|
NM_004260.4(RECQL4):c.3070A>G (p.Thr1024Ala)
|
|
|
NM_004260.4(RECQL4):c.3071C>T (p.Thr1024Ile)
|
|
|
NM_004260.4(RECQL4):c.3075G>T (p.Gly1025=)
|
|
|
NM_004260.4(RECQL4):c.3076G>A (p.Val1026Met)
|
rs370954099
|
|
NM_004260.4(RECQL4):c.3077T>A (p.Val1026Glu)
|
rs1586793873
|
|
NM_004260.4(RECQL4):c.3078G>A (p.Val1026=)
|
|
|
NM_004260.4(RECQL4):c.307C>G (p.Pro103Ala)
|
rs587778650
|
|
NM_004260.4(RECQL4):c.307C>T (p.Pro103Ser)
|
rs587778650
|
|
NM_004260.4(RECQL4):c.3080T>C (p.Leu1027Pro)
|
rs1827394535
|
|
NM_004260.4(RECQL4):c.3081T>G (p.Leu1027=)
|
|
|
NM_004260.4(RECQL4):c.3082G>C (p.Val1028Leu)
|
rs1827394205
|
|
NM_004260.4(RECQL4):c.3083T>C (p.Val1028Ala)
|
rs952414985
|
|
NM_004260.4(RECQL4):c.3083T>G (p.Val1028Gly)
|
rs952414985
|
|
NM_004260.4(RECQL4):c.3084G>A (p.Val1028=)
|
rs1827393391
|
|
NM_004260.4(RECQL4):c.3086A>G (p.Glu1029Gly)
|
|
|
NM_004260.4(RECQL4):c.3087G>A (p.Glu1029=)
|
|
|
NM_004260.4(RECQL4):c.3087G>C (p.Glu1029Asp)
|
rs767786765
|
|
NM_004260.4(RECQL4):c.3087G>T (p.Glu1029Asp)
|
rs767786765
|
|
NM_004260.4(RECQL4):c.3090C>A (p.Phe1030Leu)
|
rs767876394
|
|
NM_004260.4(RECQL4):c.3091A>G (p.Ser1031Gly)
|
rs2130660092
|
|
NM_004260.4(RECQL4):c.3092G>C (p.Ser1031Thr)
|
rs1307953192
|
|
NM_004260.4(RECQL4):c.3093T>C (p.Ser1031=)
|
rs2130660060
|
|
NM_004260.4(RECQL4):c.3094G>A (p.Glu1032Lys)
|
rs1249753953
|
|
NM_004260.4(RECQL4):c.3096G>C (p.Glu1032Asp)
|
rs2130660032
|
|
NM_004260.4(RECQL4):c.3099G>A (p.Leu1033=)
|
rs2130660004
|
|
NM_004260.4(RECQL4):c.309G>C (p.Pro103=)
|
|
|
NM_004260.4(RECQL4):c.30G>T (p.Arg10=)
|
rs1267285154
|
|
NM_004260.4(RECQL4):c.3101C>A (p.Ala1034Asp)
|
|
|
NM_004260.4(RECQL4):c.3101C>G (p.Ala1034Gly)
|
|
|
NM_004260.4(RECQL4):c.3101C>T (p.Ala1034Val)
|
rs1586793697
|
|
NM_004260.4(RECQL4):c.3102C>A (p.Ala1034=)
|
rs774570166
|
|
NM_004260.4(RECQL4):c.3105C>T (p.Phe1035=)
|
|
|
NM_004260.4(RECQL4):c.3106C>G (p.His1036Asp)
|
rs1827388895
|
|
NM_004260.4(RECQL4):c.3106C>T (p.His1036Tyr)
|
|
|
NM_004260.4(RECQL4):c.3107A>G (p.His1036Arg)
|
rs2130659859
|
|
NM_004260.4(RECQL4):c.3109C>T (p.Leu1037Phe)
|
rs2130659824
|
|
NM_004260.4(RECQL4):c.310G>C (p.Asp104His)
|
|
|
NM_004260.4(RECQL4):c.310G>T (p.Asp104Tyr)
|
|
|
NM_004260.4(RECQL4):c.3114C>T (p.Arg1038=)
|
|
|
NM_004260.4(RECQL4):c.3115A>G (p.Ser1039Gly)
|
rs2130659728
|
|
NM_004260.4(RECQL4):c.3115del (p.Ser1039fs)
|
|
|
NM_004260.4(RECQL4):c.3116G>A (p.Ser1039Asn)
|
|
|
NM_004260.4(RECQL4):c.3117C>T (p.Ser1039=)
|
rs1827386919
|
|
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu)
|
rs370867731
|
|
NM_004260.4(RECQL4):c.3120G>C (p.Pro1040=)
|
rs771832340
|
|
NM_004260.4(RECQL4):c.3121G>A (p.Gly1041Arg)
|
rs2130659641
|
|
NM_004260.4(RECQL4):c.3122G>A (p.Gly1041Glu)
|
rs1827385602
|
|
NM_004260.4(RECQL4):c.3123G>A (p.Gly1041=)
|
rs2130659612
|
|
NM_004260.4(RECQL4):c.3123_3124delinsAA (p.Asp1042Asn)
|
rs1827384886
|
|
NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn)
|
rs1827384465
|
|
NM_004260.4(RECQL4):c.3124G>T (p.Asp1042Tyr)
|
rs1827384465
|
|
NM_004260.4(RECQL4):c.3125del (p.Asp1042fs)
|
|
|
NM_004260.4(RECQL4):c.3126_3127delinsAC (p.Asp1042Glu)
|
|
|
NM_004260.4(RECQL4):c.3126_3127delinsGC (p.Asp1042Glu)
|
rs1827383516
|
|
NM_004260.4(RECQL4):c.3127T>G (p.Leu1043Val)
|
rs4925828
|
|
NM_004260.4(RECQL4):c.3127_3128delinsCA (p.Leu1043Gln)
|
rs2130659424
|
|
NM_004260.4(RECQL4):c.3127_3128delinsCC (p.Leu1043Pro)
|
|
|
NM_004260.4(RECQL4):c.3129G>A (p.Leu1043=)
|
|
|
NM_004260.4(RECQL4):c.3130A>G (p.Thr1044Ala)
|
|
|
NM_004260.4(RECQL4):c.3130A>T (p.Thr1044Ser)
|
rs1827381348
|
|
NM_004260.4(RECQL4):c.3132C>G (p.Thr1044=)
|
rs373238823
|
|
NM_004260.4(RECQL4):c.3132del (p.Ala1045fs)
|
|
|
NM_004260.4(RECQL4):c.3135T>C (p.Ala1045=)
|
rs2130659308
|
|
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys)
|
rs771349728
|
|
NM_004260.4(RECQL4):c.3136GAG[1] (p.Glu1047del)
|
rs747349932
|
|
NM_004260.4(RECQL4):c.3138G>A (p.Glu1046=)
|
|
|
NM_004260.4(RECQL4):c.3138G>T (p.Glu1046Asp)
|
rs1286948806
|
|
NM_004260.4(RECQL4):c.3141G>A (p.Glu1047=)
|
rs756604801
|
|
NM_004260.4(RECQL4):c.3141_3142del (p.Lys1048fs)
|
rs773765879
|
|
NM_004260.4(RECQL4):c.3142A>G (p.Lys1048Glu)
|
rs2130659205
|
|
NM_004260.4(RECQL4):c.3142_3144del (p.Lys1048del)
|
rs772583454
|
|
NM_004260.4(RECQL4):c.3145G>C (p.Asp1049His)
|
rs1176326208
|
|
NM_004260.4(RECQL4):c.3145_3150del (p.Asp1049_Gln1050del)
|
rs2130659055
|
|
NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter)
|
rs1554896691
|
|
NM_004260.4(RECQL4):c.3150G>A (p.Gln1050=)
|
rs2130659036
|
|
NM_004260.4(RECQL4):c.3150G>C (p.Gln1050His)
|
rs2130659036
|
|
NM_004260.4(RECQL4):c.3151A>G (p.Ile1051Val)
|
rs1380694111
|
|
NM_004260.4(RECQL4):c.3153A>G (p.Ile1051Met)
|
rs2130659004
|
|
NM_004260.4(RECQL4):c.3154T>C (p.Cys1052Arg)
|
rs573929442
|
|
NM_004260.4(RECQL4):c.3154T>G (p.Cys1052Gly)
|
|
|
NM_004260.4(RECQL4):c.3159C>G (p.Asp1053Glu)
|
rs763131728
|
|
NM_004260.4(RECQL4):c.3159C>T (p.Asp1053=)
|
rs763131728
|
|
NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter)
|
rs766643335
|
|
NM_004260.4(RECQL4):c.3161T>G (p.Phe1054Cys)
|
rs1564789631
|
|
NM_004260.4(RECQL4):c.3161_3209del (p.Phe1054fs)
|
|
|
NM_004260.4(RECQL4):c.3163del (p.Leu1055fs)
|
rs1827372162
|
|
NM_004260.4(RECQL4):c.3164T>C (p.Leu1055Pro)
|
rs1060501380
|
|
NM_004260.4(RECQL4):c.3165C>A (p.Leu1055=)
|
rs760532630
|
|
NM_004260.4(RECQL4):c.3165C>G (p.Leu1055=)
|
|
|
NM_004260.4(RECQL4):c.3165C>T (p.Leu1055=)
|
rs760532630
|
|
NM_004260.4(RECQL4):c.3166T>C (p.Tyr1056His)
|
rs1827370250
|
|
NM_004260.4(RECQL4):c.3166T>G (p.Tyr1056Asp)
|
rs1827370250
|
|
NM_004260.4(RECQL4):c.3167A>G (p.Tyr1056Cys)
|
rs773143092
|
|
NM_004260.4(RECQL4):c.3168T>C (p.Tyr1056=)
|
rs2130658722
|
|
NM_004260.4(RECQL4):c.3169G>A (p.Gly1057Ser)
|
|
|
NM_004260.4(RECQL4):c.3169G>C (p.Gly1057Arg)
|
|
|
NM_004260.4(RECQL4):c.316G>T (p.Gly106Trp)
|
rs1379063242
|
|
NM_004260.4(RECQL4):c.3171C>T (p.Gly1057=)
|
rs2130658692
|
|
NM_004260.4(RECQL4):c.3172C>A (p.Arg1058Ser)
|
rs375297971
|
|
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly)
|
rs375297971
|
|
NM_004260.4(RECQL4):c.3172C>T (p.Arg1058Cys)
|
rs375297971
|
|
NM_004260.4(RECQL4):c.3173G>T (p.Arg1058Leu)
|
rs778819494
|
|
NM_004260.4(RECQL4):c.3174T>C (p.Arg1058=)
|
rs768470543
|
|
NM_004260.4(RECQL4):c.3174T>G (p.Arg1058=)
|
|
|
NM_004260.4(RECQL4):c.3176T>G (p.Val1059Gly)
|
|
|
NM_004260.4(RECQL4):c.3177G>T (p.Val1059=)
|
rs2130658581
|
|
NM_004260.4(RECQL4):c.3178_3185del (p.Gln1060fs)
|
|
|
NM_004260.4(RECQL4):c.317G>A (p.Gly106Glu)
|
rs1815229251
|
|
NM_004260.4(RECQL4):c.3180G>A (p.Gln1060=)
|
|
|
NM_004260.4(RECQL4):c.3180G>C (p.Gln1060His)
|
|
|
NM_004260.4(RECQL4):c.3182C>T (p.Ala1061Val)
|
rs1827365759
|
|
NM_004260.4(RECQL4):c.3184C>G (p.Arg1062Gly)
|
rs199658221
|
|
NM_004260.4(RECQL4):c.3184dup (p.Arg1062fs)
|
rs2130658485
|
|
NM_004260.4(RECQL4):c.3185G>C (p.Arg1062Pro)
|
rs558058260
|
|
NM_004260.4(RECQL4):c.3185G>T (p.Arg1062Leu)
|
|
|
NM_004260.4(RECQL4):c.3185_3199dup (p.Arg1062_Ala1066dup)
|
rs1564789441
|
|
NM_004260.4(RECQL4):c.3186G>A (p.Arg1062=)
|
|
|
NM_004260.4(RECQL4):c.3186_3206del (p.Glu1063_Arg1069del)
|
rs1827356241
|
|
NM_004260.4(RECQL4):c.3187G>A (p.Glu1063Lys)
|
|
|
NM_004260.4(RECQL4):c.3187_3188delinsAG (p.Glu1063Arg)
|
rs2130658407
|
|
NM_004260.4(RECQL4):c.3188A>C (p.Glu1063Ala)
|
rs1827365223
|
|
NM_004260.4(RECQL4):c.3188A>G (p.Glu1063Gly)
|
rs1827365223
|
|
NM_004260.4(RECQL4):c.3189G>A (p.Glu1063=)
|
rs1827364974
|
|
NM_004260.4(RECQL4):c.3189G>T (p.Glu1063Asp)
|
rs1827364974
|
|
NM_004260.4(RECQL4):c.318G>A (p.Gly106=)
|
|
|
NM_004260.4(RECQL4):c.318G>T (p.Gly106=)
|
rs756229189
|
|
NM_004260.4(RECQL4):c.318del (p.Gln107fs)
|
rs775439596
|
|
NM_004260.4(RECQL4):c.3190C>T (p.Arg1064Cys)
|
rs781751586
|
|
NM_004260.4(RECQL4):c.3192C>T (p.Arg1064=)
|
rs1827363428
|
|
NM_004260.4(RECQL4):c.3193C>T (p.Gln1065Ter)
|
rs1586792875
|
|
NM_004260.4(RECQL4):c.3194A>C (p.Gln1065Pro)
|
rs2130658284
|
|
NM_004260.4(RECQL4):c.3196G>A (p.Ala1066Thr)
|
rs1564789456
|
|
NM_004260.4(RECQL4):c.3198C>T (p.Ala1066=)
|
|
|
NM_004260.4(RECQL4):c.3200_3205del (p.Leu1067_Ala1068del)
|
rs921796381
|
|
NM_004260.4(RECQL4):c.3201G>A (p.Leu1067=)
|
|
|
NM_004260.4(RECQL4):c.3201G>C (p.Leu1067=)
|
|
|
NM_004260.4(RECQL4):c.3201G>T (p.Leu1067=)
|
|
|
NM_004260.4(RECQL4):c.3202G>A (p.Ala1068Thr)
|
rs1827358772
|
|
NM_004260.4(RECQL4):c.3204C>G (p.Ala1068=)
|
rs764423233
|
|
NM_004260.4(RECQL4):c.3205C>A (p.Arg1069Ser)
|
|
|
NM_004260.4(RECQL4):c.3205C>G (p.Arg1069Gly)
|
rs758648484
|
|
NM_004260.4(RECQL4):c.3208C>T (p.Leu1070=)
|
|
|
NM_004260.4(RECQL4):c.320A>C (p.Gln107Pro)
|
rs564527898
|
|
NM_004260.4(RECQL4):c.3210G>A (p.Leu1070=)
|
rs539631209
|
|
NM_004260.4(RECQL4):c.3210G>T (p.Leu1070=)
|
rs539631209
|
|
NM_004260.4(RECQL4):c.3211C>G (p.Arg1071Gly)
|
|
|
NM_004260.4(RECQL4):c.3211C>T (p.Arg1071Cys)
|
rs767530194
|
|
NM_004260.4(RECQL4):c.3214A>C (p.Arg1072=)
|
rs386833853
|
|
NM_004260.4(RECQL4):c.3214_3215insC (p.Arg1072fs)
|
rs1827352302
|
|
NM_004260.4(RECQL4):c.3215G>C (p.Arg1072Thr)
|
rs2130657787
|
|
NM_004260.4(RECQL4):c.3217A>C (p.Thr1073Pro)
|
rs1827351854
|
|
NM_004260.4(RECQL4):c.3218C>G (p.Thr1073Ser)
|
|
|
NM_004260.4(RECQL4):c.3219C>T (p.Thr1073=)
|
rs769367312
|
|
NM_004260.4(RECQL4):c.3221T>A (p.Phe1074Tyr)
|
|
|
NM_004260.4(RECQL4):c.3222C>T (p.Phe1074=)
|
rs1827350610
|
|
NM_004260.4(RECQL4):c.3223C>T (p.Gln1075Ter)
|
rs1319295020
|
|
NM_004260.4(RECQL4):c.3225G>A (p.Gln1075=)
|
rs1554896553
|
|
NM_004260.4(RECQL4):c.3226G>A (p.Ala1076Thr)
|
rs1192096078
|
|
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)
|
|
|
NM_004260.4(RECQL4):c.3228C>T (p.Ala1076=)
|
rs1231644122
|
|
NM_004260.4(RECQL4):c.3228_3344del117 (p.Phe1077_Glu1115del)
|
|
|
NM_004260.4(RECQL4):c.322C>T (p.Arg108Trp)
|
|
|
NM_004260.4(RECQL4):c.3234C>A (p.His1078Gln)
|
|
|
NM_004260.4(RECQL4):c.3235A>G (p.Ser1079Gly)
|
|
|
NM_004260.4(RECQL4):c.3236+11G>A
|
|
|
NM_004260.4(RECQL4):c.3236+12_3236+13delinsAT
|
rs2130657403
|
|
NM_004260.4(RECQL4):c.3236+12_3236+21del
|
rs2130657233
|
|
NM_004260.4(RECQL4):c.3236+13C>A
|
|
|
NM_004260.4(RECQL4):c.3236+13_3236+14delinsTA
|
|
|
NM_004260.4(RECQL4):c.3236+15G>A
|
|
|
NM_004260.4(RECQL4):c.3236+16dup
|
rs2130657334
|
|
NM_004260.4(RECQL4):c.3236+1G>C
|
|
|
NM_004260.4(RECQL4):c.3236+20G>A
|
|
|
NM_004260.4(RECQL4):c.3236+6G>A
|
rs1315586319
|
|
NM_004260.4(RECQL4):c.3236+7A>G
|
rs757835027
|
|
NM_004260.4(RECQL4):c.3236+8G>A
|
|
|
NM_004260.4(RECQL4):c.3236G>A (p.Ser1079Asn)
|
|
|
NM_004260.4(RECQL4):c.3236G>C (p.Ser1079Thr)
|
|
|
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile)
|
rs2130657545
|
|
NM_004260.4(RECQL4):c.3237-10C>G
|
|
|
NM_004260.4(RECQL4):c.3237-12_3237-11delinsCT
|
rs2130656607
|
|
NM_004260.4(RECQL4):c.3237-13C>G
|
|
|
NM_004260.4(RECQL4):c.3237-14G>A
|
|
|
NM_004260.4(RECQL4):c.3237-15G>A
|
|
|
NM_004260.4(RECQL4):c.3237-16A>G
|
rs750518119
|
|
NM_004260.4(RECQL4):c.3237-17C>T
|
|
|
NM_004260.4(RECQL4):c.3237-1G>A
|
rs1586791945
|
|
NM_004260.4(RECQL4):c.3237-20T>C
|
rs780188311
|
|
NM_004260.4(RECQL4):c.3237-2A>G
|
|
|
NM_004260.4(RECQL4):c.3237-34_3237-5dup
|
rs2130656481
|
|
NM_004260.4(RECQL4):c.3237-4A>G
|
|
|
NM_004260.4(RECQL4):c.3237-5C>T
|
|
|
NM_004260.4(RECQL4):c.3237-6C>T
|
rs1827332199
|
|
NM_004260.4(RECQL4):c.3237-7C>T
|
rs1217004039
|
|
NM_004260.4(RECQL4):c.3237-8C>T
|
rs533128954
|
|
NM_004260.4(RECQL4):c.3237-9_3237-7del
|
|
|
NM_004260.4(RECQL4):c.3237C>A (p.Ser1079Arg)
|
rs770553956
|
|
NM_004260.4(RECQL4):c.3237C>G (p.Ser1079Arg)
|
rs770553956
|
|
NM_004260.4(RECQL4):c.3239T>C (p.Val1080Ala)
|
rs757086331
|
|
NM_004260.4(RECQL4):c.323G>A (p.Arg108Gln)
|
rs750502685
|
|
NM_004260.4(RECQL4):c.3242C>T (p.Ala1081Val)
|
rs772617043
|
|
NM_004260.4(RECQL4):c.3243C>T (p.Ala1081=)
|
rs576322077
|
|
NM_004260.4(RECQL4):c.3247C>A (p.Pro1083Thr)
|
rs374434439
|
|
NM_004260.4(RECQL4):c.3248C>T (p.Pro1083Leu)
|
rs1586791818
|
|
NM_004260.4(RECQL4):c.3249C>T (p.Pro1083=)
|
rs886038539
|
|
NM_004260.4(RECQL4):c.3251G>A (p.Ser1084Asn)
|
rs1362921798
|
|
NM_004260.4(RECQL4):c.3252C>T (p.Ser1084=)
|
|
|
NM_004260.4(RECQL4):c.3253T>C (p.Cys1085Arg)
|
rs1161967688
|
|
NM_004260.4(RECQL4):c.3253_3255del (p.Cys1085del)
|
rs1564788945
|
|
NM_004260.4(RECQL4):c.3254G>A (p.Cys1085Tyr)
|
rs1827324588
|
|
NM_004260.4(RECQL4):c.3254G>C (p.Cys1085Ser)
|
|
|
NM_004260.4(RECQL4):c.3254G>T (p.Cys1085Phe)
|
rs1827324588
|
|
NM_004260.4(RECQL4):c.3255C>G (p.Cys1085Trp)
|
rs779365826
|
|
NM_004260.4(RECQL4):c.3256G>C (p.Gly1086Arg)
|
rs587778646
|
|
NM_004260.4(RECQL4):c.3256G>T (p.Gly1086Trp)
|
|
|
NM_004260.4(RECQL4):c.3257G>A (p.Gly1086Glu)
|
rs1827323404
|
|
NM_004260.4(RECQL4):c.3257G>T (p.Gly1086Val)
|
rs1827323404
|
|
NM_004260.4(RECQL4):c.3259C>A (p.Pro1087Thr)
|
|
|
NM_004260.4(RECQL4):c.3259C>T (p.Pro1087Ser)
|
|
|
NM_004260.4(RECQL4):c.325C>T (p.Leu109Phe)
|
rs1815226105
|
|
NM_004260.4(RECQL4):c.3262T>C (p.Cys1088Arg)
|
rs1554896393
|
|
NM_004260.4(RECQL4):c.3262del (p.Cys1088fs)
|
rs2130656050
|
|
NM_004260.4(RECQL4):c.3263G>C (p.Cys1088Ser)
|
rs780200030
|
|
NM_004260.4(RECQL4):c.3263G>T (p.Cys1088Phe)
|
rs780200030
|
|
NM_004260.4(RECQL4):c.3264C>T (p.Cys1088=)
|
rs1261990868
|
|
NM_004260.4(RECQL4):c.3265C>G (p.Leu1089Val)
|
rs1350035847
|
|
NM_004260.4(RECQL4):c.3265del (p.Leu1089fs)
|
rs2130655986
|
|
NM_004260.4(RECQL4):c.3267G>A (p.Leu1089=)
|
rs1193979802
|
|
NM_004260.4(RECQL4):c.3268G>C (p.Glu1090Gln)
|
rs756401653
|
|
NM_004260.4(RECQL4):c.3269A>G (p.Glu1090Gly)
|
|
|
NM_004260.4(RECQL4):c.3270G>A (p.Glu1090=)
|
|
|
NM_004260.4(RECQL4):c.3274C>A (p.Gln1092Lys)
|
|
|
NM_004260.4(RECQL4):c.3275A>G (p.Gln1092Arg)
|
|
|
NM_004260.4(RECQL4):c.3276G>A (p.Gln1092=)
|
rs1412273753
|
|
NM_004260.4(RECQL4):c.3277del (p.Asp1093fs)
|
rs1356876749
|
|
NM_004260.4(RECQL4):c.3278_3279dup (p.Glu1094fs)
|
|
|
NM_004260.4(RECQL4):c.3278_3279insAAGGA (p.Asp1093fs)
|
|
|
NM_004260.4(RECQL4):c.3279T>C (p.Asp1093=)
|
rs2130655683
|
|
NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter)
|
rs1586791537
|
|
NM_004260.4(RECQL4):c.3280GAG[1] (p.Glu1095del)
|
rs1586791499
|
|
NM_004260.4(RECQL4):c.3283G>A (p.Glu1095Lys)
|
|
|
NM_004260.4(RECQL4):c.3284_3287dup (p.Ser1097fs)
|
rs1827314465
|
|
NM_004260.4(RECQL4):c.3285G>T (p.Glu1095Asp)
|
rs2130655535
|
|
NM_004260.4(RECQL4):c.3287G>T (p.Arg1096Leu)
|
|
|
NM_004260.4(RECQL4):c.3288C>T (p.Arg1096=)
|
|
|
NM_004260.4(RECQL4):c.3289A>T (p.Ser1097Cys)
|
|
|
NM_004260.4(RECQL4):c.3289_3310dup (p.Leu1104fs)
|
|
|
NM_004260.4(RECQL4):c.3289dup (p.Ser1097fs)
|
|
|
NM_004260.4(RECQL4):c.3290G>C (p.Ser1097Thr)
|
rs1400903506
|
|
NM_004260.4(RECQL4):c.3291C>G (p.Ser1097Arg)
|
rs1827313240
|
|
NM_004260.4(RECQL4):c.3291C>T (p.Ser1097=)
|
|
|
NM_004260.4(RECQL4):c.3292A>G (p.Thr1098Ala)
|
rs2130655429
|
|
NM_004260.4(RECQL4):c.3296G>A (p.Arg1099Lys)
|
rs760298099
|
|
NM_004260.4(RECQL4):c.3298C>T (p.Leu1100Phe)
|
|
|
NM_004260.4(RECQL4):c.32T>A (p.Leu11Gln)
|
|
|
NM_004260.4(RECQL4):c.3304G>A (p.Asp1102Asn)
|
rs1422371025
|
|
NM_004260.4(RECQL4):c.3306C>T (p.Asp1102=)
|
rs1478564851
|
|
NM_004260.4(RECQL4):c.3307C>T (p.Leu1103=)
|
rs1375576223
|
|
NM_004260.4(RECQL4):c.3308T>G (p.Leu1103Arg)
|
rs1827309086
|
|
NM_004260.4(RECQL4):c.3309G>A (p.Leu1103=)
|
rs986482653
|
|
NM_004260.4(RECQL4):c.3309G>C (p.Leu1103=)
|
|
|
NM_004260.4(RECQL4):c.3312C>A (p.Leu1104=)
|
rs903928753
|
|
NM_004260.4(RECQL4):c.3312C>G (p.Leu1104=)
|
|
|
NM_004260.4(RECQL4):c.3312_3319del (p.Gly1105fs)
|
rs1827306118
|
|
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg)
|
rs34915097
|
|
NM_004260.4(RECQL4):c.3316C>G (p.Arg1106Gly)
|
rs770193726
|
|
NM_004260.4(RECQL4):c.3318C>G (p.Arg1106=)
|
rs781456397
|
|
NM_004260.4(RECQL4):c.331G>A (p.Ala111Thr)
|
rs1586830068
|
|
NM_004260.4(RECQL4):c.3320A>G (p.Tyr1107Cys)
|
rs1827305384
|
|
NM_004260.4(RECQL4):c.3321C>G (p.Tyr1107Ter)
|
rs376392965
|
|
NM_004260.4(RECQL4):c.3321C>T (p.Tyr1107=)
|
|
|
NM_004260.4(RECQL4):c.3323T>C (p.Phe1108Ser)
|
rs1332079370
|
|
NM_004260.4(RECQL4):c.3324T>A (p.Phe1108Leu)
|
|
|
NM_004260.4(RECQL4):c.3324T>C (p.Phe1108=)
|
rs1326099113
|
|
NM_004260.4(RECQL4):c.3324_3325insAA (p.Glu1109fs)
|
rs2130654895
|
|
NM_004260.4(RECQL4):c.3325G>A (p.Glu1109Lys)
|
rs1586791117
|
|
NM_004260.4(RECQL4):c.3325G>C (p.Glu1109Gln)
|
rs1586791117
|
|
NM_004260.4(RECQL4):c.3326A>C (p.Glu1109Ala)
|
rs1445287185
|
|
NM_004260.4(RECQL4):c.3328G>A (p.Glu1110Lys)
|
|
|
NM_004260.4(RECQL4):c.3329A>G (p.Glu1110Gly)
|
rs1827302126
|
|
NM_004260.4(RECQL4):c.332C>G (p.Ala111Gly)
|
rs1586830051
|
|
NM_004260.4(RECQL4):c.3330dup (p.Glu1111fs)
|
rs2130654806
|
|
NM_004260.4(RECQL4):c.3331G>T (p.Glu1111Ter)
|
rs1331348912
|
|
NM_004260.4(RECQL4):c.3333G>A (p.Glu1111=)
|
rs1324387645
|
|
NM_004260.4(RECQL4):c.3333G>C (p.Glu1111Asp)
|
rs1324387645
|
|
NM_004260.4(RECQL4):c.3334G>T (p.Glu1112Ter)
|
rs753620447
|
|
NM_004260.4(RECQL4):c.3334del (p.Glu1112fs)
|
|
|
NM_004260.4(RECQL4):c.3337G>A (p.Gly1113Arg)
|
rs35101495
|
|
NM_004260.4(RECQL4):c.333C>T (p.Ala111=)
|
rs775455110
|
|
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter)
|
rs868635592
|
|
NM_004260.4(RECQL4):c.3341A>G (p.Gln1114Arg)
|
rs1827298476
|
|
NM_004260.4(RECQL4):c.3343G>A (p.Glu1115Lys)
|
rs2130654574
|
|
NM_004260.4(RECQL4):c.3344_3370del (p.Glu1115_Gln1123del)
|
rs1827291045
|
|
NM_004260.4(RECQL4):c.3346C>G (p.Pro1116Ala)
|
|
|
NM_004260.4(RECQL4):c.3347C>A (p.Pro1116Gln)
|
|
|
NM_004260.4(RECQL4):c.3348G>T (p.Pro1116=)
|
rs368712314
|
|
NM_004260.4(RECQL4):c.3349G>A (p.Gly1117Arg)
|
rs1238752974
|
|
NM_004260.4(RECQL4):c.3350G>A (p.Gly1117Glu)
|
|
|
NM_004260.4(RECQL4):c.3350G>C (p.Gly1117Ala)
|
rs1199300079
|
|
NM_004260.4(RECQL4):c.3352G>T (p.Gly1118Cys)
|
|
|
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp)
|
rs1276726206
|
|
NM_004260.4(RECQL4):c.3353G>C (p.Gly1118Ala)
|
|
|
NM_004260.4(RECQL4):c.3353G>T (p.Gly1118Val)
|
rs1276726206
|
|
NM_004260.4(RECQL4):c.3355A>T (p.Met1119Leu)
|
rs2130654418
|
|
NM_004260.4(RECQL4):c.3355_3372del (p.Met1119_Gly1124del)
|
|
|
NM_004260.4(RECQL4):c.3356T>C (p.Met1119Thr)
|
|
|
NM_004260.4(RECQL4):c.335A>T (p.Asn112Ile)
|
rs372651895
|
|
NM_004260.4(RECQL4):c.335_337dup (p.Asn112_Leu113insHis)
|
|
|
NM_004260.4(RECQL4):c.3360G>A (p.Glu1120=)
|
rs770246912
|
|
NM_004260.4(RECQL4):c.3360G>C (p.Glu1120Asp)
|
rs770246912
|
|
NM_004260.4(RECQL4):c.3363C>A (p.Asp1121Glu)
|
rs148752485
|
|
NM_004260.4(RECQL4):c.3366A>C (p.Ala1122=)
|
|
|
NM_004260.4(RECQL4):c.3367C>G (p.Gln1123Glu)
|
rs995015088
|
|
NM_004260.4(RECQL4):c.3367C>T (p.Gln1123Ter)
|
|
|
NM_004260.4(RECQL4):c.3368A>C (p.Gln1123Pro)
|
rs1827291422
|
|
NM_004260.4(RECQL4):c.3369G>A (p.Gln1123=)
|
|
|
NM_004260.4(RECQL4):c.336T>C (p.Asn112=)
|
|
|
NM_004260.4(RECQL4):c.3370G>A (p.Gly1124Ser)
|
rs1586790742
|
|
NM_004260.4(RECQL4):c.3373C>A (p.Pro1125Thr)
|
rs1253536369
|
|
NM_004260.4(RECQL4):c.3373C>T (p.Pro1125Ser)
|
|
|
NM_004260.4(RECQL4):c.3374C>A (p.Pro1125His)
|
|
|
NM_004260.4(RECQL4):c.3374C>G (p.Pro1125Arg)
|
|
|
NM_004260.4(RECQL4):c.3374C>T (p.Pro1125Leu)
|
|
|
NM_004260.4(RECQL4):c.3375C>A (p.Pro1125=)
|
|
|
NM_004260.4(RECQL4):c.3377A>C (p.Glu1126Ala)
|
rs1030415007
|
|
NM_004260.4(RECQL4):c.3378G>C (p.Glu1126Asp)
|
|
|
NM_004260.4(RECQL4):c.3378G>T (p.Glu1126Asp)
|
rs1827286724
|
|
NM_004260.4(RECQL4):c.3379C>T (p.Pro1127Ser)
|
rs1418891842
|
|
NM_004260.4(RECQL4):c.337C>T (p.Leu113=)
|
rs370011366
|
|
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu)
|
rs1827286027
|
|
NM_004260.4(RECQL4):c.3383G>A (p.Gly1128Glu)
|
rs755845445
|
|
NM_004260.4(RECQL4):c.3383G>T (p.Gly1128Val)
|
|
|
NM_004260.4(RECQL4):c.3384G>A (p.Gly1128=)
|
|
|
NM_004260.4(RECQL4):c.3388G>A (p.Ala1130Thr)
|
rs1186946412
|
|
NM_004260.4(RECQL4):c.338T>G (p.Leu113Arg)
|
rs1245684504
|
|
NM_004260.4(RECQL4):c.3390C>G (p.Ala1130=)
|
rs2130653895
|
|
NM_004260.4(RECQL4):c.3392G>T (p.Arg1131Ile)
|
rs201369291
|
|
NM_004260.4(RECQL4):c.3393+11T>C
|
|
|
NM_004260.4(RECQL4):c.3393+11T>G
|
|
|
NM_004260.4(RECQL4):c.3393+12A>G
|
rs1464007089
|
|
NM_004260.4(RECQL4):c.3393+13dup
|
rs1206314292
|
|
NM_004260.4(RECQL4):c.3393+14G>A
|
|
|
NM_004260.4(RECQL4):c.3393+15G>A
|
|
|
NM_004260.4(RECQL4):c.3393+16C>T
|
|
|
NM_004260.4(RECQL4):c.3393+17C>A
|
rs776076152
|
|
NM_004260.4(RECQL4):c.3393+17C>T
|
rs776076152
|
|
NM_004260.4(RECQL4):c.3393+18A>T
|
|
|
NM_004260.4(RECQL4):c.3393+1G>A
|
rs1586790519
|
|
NM_004260.4(RECQL4):c.3393+20G>A
|
|
|
NM_004260.4(RECQL4):c.3393+4A>T
|
|
|
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
|
|
|
NM_004260.4(RECQL4):c.3393+7_3393+8delinsAT
|
rs1060504210
|
|
NM_004260.4(RECQL4):c.3393+8_3393+9inv
|
|
|
NM_004260.4(RECQL4):c.3393+9A>C
|
rs4251692
|
|
NM_004260.4(RECQL4):c.3394-12C>G
|
|
|
NM_004260.4(RECQL4):c.3394-13C>A
|
rs539751764
|
|
NM_004260.4(RECQL4):c.3394-13C>T
|
|
|
NM_004260.4(RECQL4):c.3394-15T>C
|
|
|
NM_004260.4(RECQL4):c.3394-17T>A
|
rs761949478
|
|
NM_004260.4(RECQL4):c.3394-17T>C
|
rs761949478
|
|
NM_004260.4(RECQL4):c.3394-19G>A
|
rs1564787794
|
|
NM_004260.4(RECQL4):c.3394-19G>C
|
rs1564787794
|
|
NM_004260.4(RECQL4):c.3394-1G>A
|
rs752301125
|
|
NM_004260.4(RECQL4):c.3394-4A>G
|
rs777542762
|
|
NM_004260.4(RECQL4):c.3394-4A>T
|
rs777542762
|
|
NM_004260.4(RECQL4):c.3394-4dup
|
rs2130652323
|
|
NM_004260.4(RECQL4):c.3394-7CA[2]
|
rs1827258737
|
|
NM_004260.4(RECQL4):c.3394-8C>A
|
|
|
NM_004260.4(RECQL4):c.3394-9T>C
|
rs746656592
|
|
NM_004260.4(RECQL4):c.3394-9del
|
rs2130652385
|
|
NM_004260.4(RECQL4):c.3394C>T (p.Leu1132Phe)
|
rs1554895894
|
|
NM_004260.4(RECQL4):c.3396C>T (p.Leu1132=)
|
|
|
NM_004260.4(RECQL4):c.3397C>T (p.Gln1133Ter)
|
|
|
NM_004260.4(RECQL4):c.3399G>A (p.Gln1133=)
|
|
|
NM_004260.4(RECQL4):c.339G>C (p.Leu113=)
|
rs776241911
|
|
NM_004260.4(RECQL4):c.33G>A (p.Leu11=)
|
rs2130746115
|
|
NM_004260.4(RECQL4):c.3400G>A (p.Asp1134Asn)
|
|
|
NM_004260.4(RECQL4):c.3400G>T (p.Asp1134Tyr)
|
|
|
NM_004260.4(RECQL4):c.3402T>G (p.Asp1134Glu)
|
|
|
NM_004260.4(RECQL4):c.3404G>A (p.Trp1135Ter)
|
|
|
NM_004260.4(RECQL4):c.3405G>A (p.Trp1135Ter)
|
|
|
NM_004260.4(RECQL4):c.3408G>A (p.Glu1136=)
|
|
|
NM_004260.4(RECQL4):c.3409G>A (p.Asp1137Asn)
|
|
|
NM_004260.4(RECQL4):c.3410A>G (p.Asp1137Gly)
|
rs950715422
|
|
NM_004260.4(RECQL4):c.3410A>T (p.Asp1137Val)
|
rs950715422
|
|
NM_004260.4(RECQL4):c.3411C>G (p.Asp1137Glu)
|
|
|
NM_004260.4(RECQL4):c.3412C>G (p.Gln1138Glu)
|
rs1827255071
|
|
NM_004260.4(RECQL4):c.3413A>C (p.Gln1138Pro)
|
rs1554895884
|
|
NM_004260.4(RECQL4):c.3413A>G (p.Gln1138Arg)
|
rs1554895884
|
|
NM_004260.4(RECQL4):c.3414G>A (p.Gln1138=)
|
rs2130652091
|
|
NM_004260.4(RECQL4):c.3415G>A (p.Val1139Ile)
|
rs1431803679
|
|
NM_004260.4(RECQL4):c.3415G>T (p.Val1139Phe)
|
rs1431803679
|
|
NM_004260.4(RECQL4):c.3416del (p.Val1139fs)
|
|
|
NM_004260.4(RECQL4):c.3417C>G (p.Val1139=)
|
rs761157177
|
|
NM_004260.4(RECQL4):c.3421T>C (p.Cys1141Arg)
|
rs587778647
|
|
NM_004260.4(RECQL4):c.3424G>A (p.Asp1142Asn)
|
rs61755067
|
|
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His)
|
rs61755067
|
|
NM_004260.4(RECQL4):c.342A>G (p.Lys114=)
|
rs2130734641
|
|
NM_004260.4(RECQL4):c.3430C>G (p.Arg1144Gly)
|
|
|
NM_004260.4(RECQL4):c.3432C>T (p.Arg1144=)
|
rs562024579
|
|
NM_004260.4(RECQL4):c.3433C>A (p.Gln1145Lys)
|
rs1827248750
|
|
NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter)
|
rs1827248750
|
|
NM_004260.4(RECQL4):c.3435G>A (p.Gln1145=)
|
rs61755066
|
|
NM_004260.4(RECQL4):c.3438C>T (p.Phe1146=)
|
rs1554895855
|
|
NM_004260.4(RECQL4):c.343G>A (p.Gly115Ser)
|
rs1289970181
|
|
NM_004260.4(RECQL4):c.343G>C (p.Gly115Arg)
|
|
|
NM_004260.4(RECQL4):c.3440T>C (p.Leu1147Pro)
|
rs1446094881
|
|
NM_004260.4(RECQL4):c.3441G>C (p.Leu1147=)
|
rs2130651747
|
|
NM_004260.4(RECQL4):c.3443C>G (p.Ser1148Cys)
|
rs35346077
|
|
NM_004260.4(RECQL4):c.3445C>T (p.Leu1149=)
|
rs748732922
|
|
NM_004260.4(RECQL4):c.3446T>C (p.Leu1149Pro)
|
rs1358801934
|
|
NM_004260.4(RECQL4):c.3449G>A (p.Arg1150Lys)
|
rs780676589
|
|
NM_004260.4(RECQL4):c.3449G>C (p.Arg1150Thr)
|
|
|
NM_004260.4(RECQL4):c.3449G>T (p.Arg1150Met)
|
rs780676589
|
|
NM_004260.4(RECQL4):c.3450G>A (p.Arg1150=)
|
rs1554895831
|
|
NM_004260.4(RECQL4):c.3451C>T (p.Pro1151Ser)
|
rs1554895829
|
|
NM_004260.4(RECQL4):c.3454G>A (p.Glu1152Lys)
|
rs1554895824
|
|
NM_004260.4(RECQL4):c.3454G>C (p.Glu1152Gln)
|
rs1554895824
|
|
NM_004260.4(RECQL4):c.3454GAG[1] (p.Glu1153del)
|
rs780986647
|
|
NM_004260.4(RECQL4):c.3456G>A (p.Glu1152=)
|
rs756549605
|
|
NM_004260.4(RECQL4):c.3456G>C (p.Glu1152Asp)
|
rs756549605
|
|
NM_004260.4(RECQL4):c.3457G>C (p.Glu1153Gln)
|
|
|
NM_004260.4(RECQL4):c.3459G>C (p.Glu1153Asp)
|
rs1827242769
|
|
NM_004260.4(RECQL4):c.3460A>T (p.Lys1154Ter)
|
rs1564787413
|
|
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del)
|
rs1564787405
|
|
NM_004260.4(RECQL4):c.3462G>A (p.Lys1154=)
|
|
|
NM_004260.4(RECQL4):c.3462G>C (p.Lys1154Asn)
|
rs1439767800
|
|
NM_004260.4(RECQL4):c.3467C>G (p.Ser1156Cys)
|
rs373652049
|
|
NM_004260.4(RECQL4):c.3467C>T (p.Ser1156Phe)
|
rs373652049
|
|
NM_004260.4(RECQL4):c.3468C>T (p.Ser1156=)
|
|
|
NM_004260.4(RECQL4):c.3471C>T (p.Ser1157=)
|
rs1827240115
|
|
NM_004260.4(RECQL4):c.3472A>G (p.Arg1158Gly)
|
rs1827239771
|
|
NM_004260.4(RECQL4):c.3475G>A (p.Ala1159Thr)
|
rs1043628799
|
|
NM_004260.4(RECQL4):c.3476C>A (p.Ala1159Asp)
|
rs766385605
|
|
NM_004260.4(RECQL4):c.3477T>C (p.Ala1159=)
|
|
|
NM_004260.4(RECQL4):c.3478G>A (p.Val1160Met)
|
rs1827238382
|
|
NM_004260.4(RECQL4):c.3478G>C (p.Val1160Leu)
|
rs1827238382
|
|
NM_004260.4(RECQL4):c.3479_3502+47del
|
rs2130650294
|
|
NM_004260.4(RECQL4):c.347C>A (p.Thr116Asn)
|
rs565419066
|
|
NM_004260.4(RECQL4):c.3481G>A (p.Ala1161Thr)
|
rs916484589
|
|
NM_004260.4(RECQL4):c.3482C>T (p.Ala1161Val)
|
rs1827237447
|
|
NM_004260.4(RECQL4):c.3484C>G (p.Arg1162Gly)
|
rs773088003
|
|
NM_004260.4(RECQL4):c.3484_3502+8del
|
rs1827230385
|
|
NM_004260.4(RECQL4):c.3485G>C (p.Arg1162Pro)
|
rs747815189
|
|
NM_004260.4(RECQL4):c.3486_3502dup (p.Gly1168fs)
|
rs751332709
|
|
NM_004260.4(RECQL4):c.3489C>A (p.Ile1163=)
|
rs1056576166
|
|
NM_004260.4(RECQL4):c.348C>T (p.Thr116=)
|
rs747642273
|
|
NM_004260.4(RECQL4):c.3493C>G (p.His1165Asp)
|
rs774202918
|
|
NM_004260.4(RECQL4):c.3493C>T (p.His1165Tyr)
|
|
|
NM_004260.4(RECQL4):c.3494_3502+8del
|
|
|
NM_004260.4(RECQL4):c.3495_3502+23del
|
rs1827224893
|
|
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser)
|
rs779410033
|
|
NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg)
|
rs779410033
|
|
NM_004260.4(RECQL4):c.3497G>T (p.Gly1166Val)
|
rs1416975304
|
|
NM_004260.4(RECQL4):c.3497del (p.Gly1166fs)
|
rs35626651
|
|
NM_004260.4(RECQL4):c.3498C>T (p.Gly1166=)
|
rs756666498
|
|
NM_004260.4(RECQL4):c.349C>G (p.Leu117Val)
|
|
|
NM_004260.4(RECQL4):c.34C>G (p.Gln12Glu)
|
|
|
NM_004260.4(RECQL4):c.3502+10G>T
|
|
|
NM_004260.4(RECQL4):c.3502+10_3502+18del
|
|
|
NM_004260.4(RECQL4):c.3502+13A>T
|
|
|
NM_004260.4(RECQL4):c.3502+14G>T
|
|
|
NM_004260.4(RECQL4):c.3502+15G>A
|
rs1422782410
|
|
NM_004260.4(RECQL4):c.3502+16C>G
|
rs752841311
|
|
NM_004260.4(RECQL4):c.3502+17C>A
|
|
|
NM_004260.4(RECQL4):c.3502+17_3503-57del
|
rs2130650013
|
|
NM_004260.4(RECQL4):c.3502+18C>T
|
|
|
NM_004260.4(RECQL4):c.3502+19C>T
|
|
|
NM_004260.4(RECQL4):c.3502+1G>T
|
rs757563486
|
|
NM_004260.4(RECQL4):c.3502+2T>A
|
|
|
NM_004260.4(RECQL4):c.3502+3G>A
|
|
|
NM_004260.4(RECQL4):c.3502+4A>G
|
rs1586788693
|
|
NM_004260.4(RECQL4):c.3502+5G>A
|
rs758521652
|
|
NM_004260.4(RECQL4):c.3502+8C>G
|
rs1060504222
|
|
NM_004260.4(RECQL4):c.3502+8C>T
|
|
|
NM_004260.4(RECQL4):c.3502G>T (p.Gly1168Ter)
|
rs781543298
|
|
NM_004260.4(RECQL4):c.3502_3502+8del
|
rs2130650891
|
|
NM_004260.4(RECQL4):c.3503-10T>C
|
|
|
NM_004260.4(RECQL4):c.3503-11C>A
|
|
|
NM_004260.4(RECQL4):c.3503-11C>T
|
rs2130649472
|
|
NM_004260.4(RECQL4):c.3503-14T>C
|
|
|
NM_004260.4(RECQL4):c.3503-16C>G
|
|
|
NM_004260.4(RECQL4):c.3503-18_3503-17del
|
rs755908070
|
|
NM_004260.4(RECQL4):c.3503-19T>C
|
|
|
NM_004260.4(RECQL4):c.3503-1G>A
|
|
|
NM_004260.4(RECQL4):c.3503-20GT[3]
|
rs755908070
|
|
NM_004260.4(RECQL4):c.3503-20_3503-10dup
|
|
|
NM_004260.4(RECQL4):c.3503-21_3503-5dup
|
|
|
NM_004260.4(RECQL4):c.3503-23_3503-4dup
|
rs1287981034
|
|
NM_004260.4(RECQL4):c.3503-2A>C
|
rs1371218064
|
|
NM_004260.4(RECQL4):c.3503-2A>G
|
|
|
NM_004260.4(RECQL4):c.3503-2A>T
|
rs1371218064
|
|
NM_004260.4(RECQL4):c.3503-3T>C
|
|
|
NM_004260.4(RECQL4):c.3503-3T>G
|
|
|
NM_004260.4(RECQL4):c.3503-5C>G
|
rs539465528
|
|
NM_004260.4(RECQL4):c.3503-7_3509del
|
rs1827197544
|
|
NM_004260.4(RECQL4):c.3503-9C>T
|
|
|
NM_004260.4(RECQL4):c.3503G>A (p.Gly1168Glu)
|
|
|
NM_004260.4(RECQL4):c.3507C>A (p.Ser1169Arg)
|
rs370738615
|
|
NM_004260.4(RECQL4):c.3508C>G (p.Pro1170Ala)
|
|
|
NM_004260.4(RECQL4):c.350T>A (p.Leu117Gln)
|
rs1815218756
|
|
NM_004260.4(RECQL4):c.3510C>T (p.Pro1170=)
|
rs1005731353
|
|
NM_004260.4(RECQL4):c.3511T>C (p.Cys1171Arg)
|
|
|
NM_004260.4(RECQL4):c.3513C>G (p.Cys1171Trp)
|
rs2130649211
|
|
NM_004260.4(RECQL4):c.3516C>T (p.Tyr1172=)
|
rs2130649193
|
|
NM_004260.4(RECQL4):c.3519G>C (p.Pro1173=)
|
rs754019797
|
|
NM_004260.4(RECQL4):c.3519G>T (p.Pro1173=)
|
rs754019797
|
|
NM_004260.4(RECQL4):c.3520G>A (p.Ala1174Thr)
|
|
|
NM_004260.4(RECQL4):c.3520G>C (p.Ala1174Pro)
|
rs1452579046
|
|
NM_004260.4(RECQL4):c.3521C>A (p.Ala1174Asp)
|
rs587778648
|
|
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter)
|
rs879192998
|
|
NM_004260.4(RECQL4):c.3525G>C (p.Gln1175His)
|
rs757292188
|
|
NM_004260.4(RECQL4):c.3526G>A (p.Val1176Met)
|
rs751477241
|
|
NM_004260.4(RECQL4):c.352C>G (p.Gln118Glu)
|
|
|
NM_004260.4(RECQL4):c.3531C>G (p.Tyr1177Ter)
|
rs139228543
|
|
NM_004260.4(RECQL4):c.3532G>C (p.Gly1178Arg)
|
rs776146178
|
|
NM_004260.4(RECQL4):c.3532G>T (p.Gly1178Trp)
|
rs776146178
|
|
NM_004260.4(RECQL4):c.3533G>C (p.Gly1178Ala)
|
|
|
NM_004260.4(RECQL4):c.3536A>G (p.Gln1179Arg)
|
|
|
NM_004260.4(RECQL4):c.3537G>A (p.Gln1179=)
|
|
|
NM_004260.4(RECQL4):c.353A>G (p.Gln118Arg)
|
rs757435100
|
|
NM_004260.4(RECQL4):c.354+12G>A
|
|
|
NM_004260.4(RECQL4):c.354+13C>T
|
rs757366794
|
|
NM_004260.4(RECQL4):c.354+16G>A
|
|
|
NM_004260.4(RECQL4):c.354+16G>T
|
rs2130734137
|
|
NM_004260.4(RECQL4):c.354+17C>T
|
rs2130734121
|
|
NM_004260.4(RECQL4):c.354+19G>C
|
|
|
NM_004260.4(RECQL4):c.354+20T>C
|
rs765244926
|
|
NM_004260.4(RECQL4):c.354+20_354+21del
|
|
|
NM_004260.4(RECQL4):c.354+3G>A
|
rs2130734396
|
|
NM_004260.4(RECQL4):c.354+5G>T
|
rs780212446
|
|
NM_004260.4(RECQL4):c.354+6G>A
|
|
|
NM_004260.4(RECQL4):c.354+6G>C
|
|
|
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln)
|
rs370069034
|
|
NM_004260.4(RECQL4):c.3542G>C (p.Arg1181Pro)
|
|
|
NM_004260.4(RECQL4):c.3542G>T (p.Arg1181Leu)
|
rs370069034
|
|
NM_004260.4(RECQL4):c.3543A>T (p.Arg1181=)
|
rs2130648788
|
|
NM_004260.4(RECQL4):c.3545_3546delinsTT (p.Arg1182Leu)
|
rs1827186377
|
|
NM_004260.4(RECQL4):c.3546C>A (p.Arg1182=)
|
|
|
NM_004260.4(RECQL4):c.3546C>T (p.Arg1182=)
|
rs2130648722
|
|
NM_004260.4(RECQL4):c.355-10C>T
|
|
|
NM_004260.4(RECQL4):c.355-11T>G
|
|
|
NM_004260.4(RECQL4):c.355-11_355-6del
|
|
|
NM_004260.4(RECQL4):c.355-12T>C
|
|
|
NM_004260.4(RECQL4):c.355-14T>C
|
|
|
NM_004260.4(RECQL4):c.355-15T>C
|
|
|
NM_004260.4(RECQL4):c.355-16G>A
|
|
|
NM_004260.4(RECQL4):c.355-16G>T
|
|
|
NM_004260.4(RECQL4):c.355-18C>A
|
rs371484834
|
|
NM_004260.4(RECQL4):c.355-18C>T
|
rs371484834
|
|
NM_004260.4(RECQL4):c.355-1G>A
|
|
|
NM_004260.4(RECQL4):c.355-1G>T
|
rs1815108719
|
|
NM_004260.4(RECQL4):c.355-3C>G
|
rs778042700
|
|
NM_004260.4(RECQL4):c.355-4C>T
|
rs1231909037
|
|
NM_004260.4(RECQL4):c.355-8C>G
|
rs368782236
|
|
NM_004260.4(RECQL4):c.355-9C>A
|
rs571686323
|
|
NM_004260.4(RECQL4):c.355-9C>T
|
rs571686323
|
|
NM_004260.4(RECQL4):c.3551G>A (p.Trp1184Ter)
|
|
|
NM_004260.4(RECQL4):c.3555A>G (p.Arg1185=)
|
rs1586787396
|
|
NM_004260.4(RECQL4):c.3555A>T (p.Arg1185Ser)
|
rs1586787396
|
|
NM_004260.4(RECQL4):c.3560A>C (p.Tyr1187Ser)
|
rs1586787364
|
|
NM_004260.4(RECQL4):c.3560A>G (p.Tyr1187Cys)
|
rs1586787364
|
|
NM_004260.4(RECQL4):c.3562C>G (p.Leu1188Val)
|
|
|
NM_004260.4(RECQL4):c.3562C>T (p.Leu1188=)
|
rs780285435
|
|
NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro)
|
rs535259922
|
|
NM_004260.4(RECQL4):c.3565C>G (p.His1189Asp)
|
|
|
NM_004260.4(RECQL4):c.3568C>T (p.Leu1190=)
|
|
|
NM_004260.4(RECQL4):c.3569T>G (p.Leu1190Arg)
|
|
|
NM_004260.4(RECQL4):c.356C>A (p.Ala119Asp)
|
rs997621519
|
|
NM_004260.4(RECQL4):c.356C>T (p.Ala119Val)
|
|
|
NM_004260.4(RECQL4):c.3571A>C (p.Ser1191Arg)
|
|
|
NM_004260.4(RECQL4):c.3573C>G (p.Ser1191Arg)
|
rs199885535
|
|
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)
|
rs758966528
|
|
NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)
|
|
|
NM_004260.4(RECQL4):c.3576C>G (p.Phe1192Leu)
|
rs1586787251
|
|
NM_004260.4(RECQL4):c.3576C>T (p.Phe1192=)
|
rs1586787251
|
|
NM_004260.4(RECQL4):c.3578A>G (p.His1193Arg)
|
rs753427189
|
|
NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del)
|
rs2130648343
|
|
NM_004260.4(RECQL4):c.3579T>C (p.His1193=)
|
|
|
NM_004260.4(RECQL4):c.357C>A (p.Ala119=)
|
rs758460596
|
|
NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr)
|
rs201809411
|
|
NM_004260.4(RECQL4):c.3580G>T (p.Ala1194Ser)
|
rs201809411
|
|
NM_004260.4(RECQL4):c.3581C>A (p.Ala1194Asp)
|
|
|
NM_004260.4(RECQL4):c.3582C>G (p.Ala1194=)
|
rs772747279
|
|
NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val)
|
rs1353637154
|
|
NM_004260.4(RECQL4):c.3583C>T (p.Leu1195=)
|
rs1353637154
|
|
NM_004260.4(RECQL4):c.3585G>A (p.Leu1195=)
|
rs767956471
|
|
NM_004260.4(RECQL4):c.3585G>C (p.Leu1195=)
|
rs767956471
|
|
NM_004260.4(RECQL4):c.3588G>C (p.Val1196=)
|
rs774611413
|
|
NM_004260.4(RECQL4):c.3589G>A (p.Gly1197Ser)
|
rs1333144821
|
|
NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys)
|
rs1333144821
|
|
NM_004260.4(RECQL4):c.358G>A (p.Gly120Arg)
|
rs571635676
|
|
NM_004260.4(RECQL4):c.3590G>A (p.Gly1197Asp)
|
rs546643758
|
|
NM_004260.4(RECQL4):c.3593T>C (p.Leu1198Pro)
|
|
|
NM_004260.4(RECQL4):c.3594G>T (p.Leu1198=)
|
|
|
NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr)
|
rs1586787093
|
|
NM_004260.4(RECQL4):c.3597C>T (p.Ala1199=)
|
rs775914502
|
|
NM_004260.4(RECQL4):c.359G>A (p.Gly120Glu)
|
|
|
NM_004260.4(RECQL4):c.359G>C (p.Gly120Ala)
|
rs779891153
|
|
NM_004260.4(RECQL4):c.3600G>C (p.Thr1200=)
|
rs35225938
|
|
NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
|
|
|
NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys)
|
rs1827173179
|
|
NM_004260.4(RECQL4):c.3606G>A (p.Glu1202=)
|
|
|
NM_004260.4(RECQL4):c.3606G>C (p.Glu1202Asp)
|
rs1259980040
|
|
NM_004260.4(RECQL4):c.3606G>T (p.Glu1202Asp)
|
rs1259980040
|
|
NM_004260.4(RECQL4):c.3607C>T (p.Leu1203Phe)
|
|
|
NM_004260.4(RECQL4):c.3609C>A (p.Leu1203=)
|
rs201384843
|
|
NM_004260.4(RECQL4):c.3609_3611del (p.Leu1204del)
|
rs1554895414
|
|
NM_004260.4(RECQL4):c.3610C>T (p.Leu1204=)
|
|
|
NM_004260.4(RECQL4):c.3611T>A (p.Leu1204Gln)
|
rs2130647931
|
|
NM_004260.4(RECQL4):c.3615G>A (p.Gln1205=)
|
rs1586786914
|
|
NM_004260.4(RECQL4):c.3615G>C (p.Gln1205His)
|
rs1586786914
|
|
NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met)
|
rs1346196114
|
|
NM_004260.4(RECQL4):c.3621C>T (p.Ala1207=)
|
rs1827170381
|
|
NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly)
|
rs41555416
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
NM_004260.4(RECQL4):c.3624C>G (p.Arg1208=)
|
|
|
NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=)
|
rs56341125
|
|
NM_004260.4(RECQL4):c.363A>C (p.Pro121=)
|
|
|
NM_004260.4(RECQL4):c.363A>G (p.Pro121=)
|
rs1411551213
|
|
NM_004260.4(RECQL4):c.364G>T (p.Ala122Ser)
|
rs750245958
|
|
NM_004260.4(RECQL4):c.365C>G (p.Ala122Gly)
|
|
|
NM_004260.4(RECQL4):c.365C>T (p.Ala122Val)
|
|
|
NM_004260.4(RECQL4):c.367C>T (p.Leu123=)
|
|
|
NM_004260.4(RECQL4):c.368T>G (p.Leu123Arg)
|
rs1301601410
|
|
NM_004260.4(RECQL4):c.36G>C (p.Gln12His)
|
|
|
NM_004260.4(RECQL4):c.373C>T (p.Arg125Cys)
|
rs762400332
|
|
NM_004260.4(RECQL4):c.374G>A (p.Arg125His)
|
|
|
NM_004260.4(RECQL4):c.375C>T (p.Arg125=)
|
rs1815102130
|
|
NM_004260.4(RECQL4):c.376del (p.Arg126fs)
|
|
|
NM_004260.4(RECQL4):c.377G>A (p.Arg126Lys)
|
rs1815101790
|
|
NM_004260.4(RECQL4):c.379C>G (p.Pro127Ala)
|
rs1815101287
|
|
NM_004260.4(RECQL4):c.379C>T (p.Pro127Ser)
|
|
|
NM_004260.4(RECQL4):c.37G>C (p.Ala13Pro)
|
rs747356389
|
|
NM_004260.4(RECQL4):c.37G>T (p.Ala13Ser)
|
rs747356389
|
|
NM_004260.4(RECQL4):c.37_38delinsTA (p.Ala13Ter)
|
rs2130746001
|
|
NM_004260.4(RECQL4):c.381G>A (p.Pro127=)
|
rs529008787
|
|
NM_004260.4(RECQL4):c.384G>A (p.Trp128Ter)
|
|
|
NM_004260.4(RECQL4):c.384G>T (p.Trp128Cys)
|
rs1335967859
|
|
NM_004260.4(RECQL4):c.386C>G (p.Pro129Arg)
|
|
|
NM_004260.4(RECQL4):c.390A>C (p.Leu130=)
|
rs1586827011
|
|
NM_004260.4(RECQL4):c.391G>A (p.Gly131Arg)
|
rs561427528
|
|
NM_004260.4(RECQL4):c.394A>G (p.Arg132Gly)
|
rs929989281
|
|
NM_004260.4(RECQL4):c.395G>A (p.Arg132Lys)
|
rs1815096415
|
|
NM_004260.4(RECQL4):c.398C>G (p.Ala133Gly)
|
rs1815095431
|
|
NM_004260.4(RECQL4):c.398C>T (p.Ala133Val)
|
rs1815095431
|
|
NM_004260.4(RECQL4):c.399C>T (p.Ala133=)
|
rs1554903680
|
|
NM_004260.4(RECQL4):c.39G>T (p.Ala13=)
|
rs778012969
|
|
NM_004260.4(RECQL4):c.3G>A (p.Met1Ile)
|
|
|
NM_004260.4(RECQL4):c.3G>T (p.Met1Ile)
|
rs1815451127
|
|
NM_004260.4(RECQL4):c.400_416del (p.Ser134fs)
|
rs2130729321
|
|
NM_004260.4(RECQL4):c.401C>T (p.Ser134Leu)
|
|
|
NM_004260.4(RECQL4):c.402A>G (p.Ser134=)
|
|
|
NM_004260.4(RECQL4):c.403T>C (p.Ser135Pro)
|
rs2130729542
|
|
NM_004260.4(RECQL4):c.404C>T (p.Ser135Phe)
|
rs748201614
|
|
NM_004260.4(RECQL4):c.405T>A (p.Ser135=)
|
|
|
NM_004260.4(RECQL4):c.407A>C (p.Lys136Thr)
|
rs1224242466
|
|
NM_004260.4(RECQL4):c.408G>A (p.Lys136=)
|
rs1815093098
|
|
NM_004260.4(RECQL4):c.409G>A (p.Ala137Thr)
|
|
|
NM_004260.4(RECQL4):c.40T>C (p.Trp14Arg)
|
rs758579262
|
|
NM_004260.4(RECQL4):c.40T>G (p.Trp14Gly)
|
rs758579262
|
|
NM_004260.4(RECQL4):c.415A>G (p.Thr139Ala)
|
|
|
NM_004260.4(RECQL4):c.417C>T (p.Thr139=)
|
rs1554903649
|
|
NM_004260.4(RECQL4):c.418C>T (p.Pro140Ser)
|
|
|
NM_004260.4(RECQL4):c.419C>T (p.Pro140Leu)
|
|
|
NM_004260.4(RECQL4):c.419del (p.Pro140fs)
|
rs1406864413
|
|
NM_004260.4(RECQL4):c.424C>G (p.Pro142Ala)
|
rs781248589
|
|
NM_004260.4(RECQL4):c.426C>G (p.Pro142=)
|
rs1471399547
|
|
NM_004260.4(RECQL4):c.427C>T (p.Pro143Ser)
|
rs1023001689
|
|
NM_004260.4(RECQL4):c.428C>T (p.Pro143Leu)
|
rs751329011
|
|
NM_004260.4(RECQL4):c.429A>C (p.Pro143=)
|
|
|
NM_004260.4(RECQL4):c.42_43del (p.Trp14_Glu15delinsTer)
|
rs2130745875
|
|
NM_004260.4(RECQL4):c.430G>T (p.Gly144Cys)
|
|
|
NM_004260.4(RECQL4):c.431G>T (p.Gly144Val)
|
|
|
NM_004260.4(RECQL4):c.433A>G (p.Thr145Ala)
|
|
|
NM_004260.4(RECQL4):c.433A>T (p.Thr145Ser)
|
|
|
NM_004260.4(RECQL4):c.434C>G (p.Thr145Arg)
|
|
|
NM_004260.4(RECQL4):c.434C>T (p.Thr145Ile)
|
rs2130728963
|
|
NM_004260.4(RECQL4):c.436G>A (p.Gly146Arg)
|
rs1815085488
|
|
NM_004260.4(RECQL4):c.438G>A (p.Gly146=)
|
rs764797288
|
|
NM_004260.4(RECQL4):c.439C>T (p.Pro147Ser)
|
|
|
NM_004260.4(RECQL4):c.43G>A (p.Glu15Lys)
|
|
|
NM_004260.4(RECQL4):c.441T>C (p.Pro147=)
|
|
|
NM_004260.4(RECQL4):c.445C>A (p.Pro149Thr)
|
|
|
NM_004260.4(RECQL4):c.445C>G (p.Pro149Ala)
|
rs766844431
|
|
NM_004260.4(RECQL4):c.446C>G (p.Pro149Arg)
|
rs773579080
|
|
NM_004260.4(RECQL4):c.447C>A (p.Pro149=)
|
|
|
NM_004260.4(RECQL4):c.447C>G (p.Pro149=)
|
|
|
NM_004260.4(RECQL4):c.449C>A (p.Ser150Tyr)
|
rs748466411
|
|
NM_004260.4(RECQL4):c.449C>T (p.Ser150Phe)
|
|
|
NM_004260.4(RECQL4):c.450C>G (p.Ser150=)
|
|
|
NM_004260.4(RECQL4):c.450C>T (p.Ser150=)
|
|
|
NM_004260.4(RECQL4):c.454G>A (p.Ala152Thr)
|
rs2130728610
|
|
NM_004260.4(RECQL4):c.455C>G (p.Ala152Gly)
|
rs774699880
|
|
NM_004260.4(RECQL4):c.457G>C (p.Glu153Gln)
|
rs2130728564
|
|
NM_004260.4(RECQL4):c.458A>G (p.Glu153Gly)
|
rs1815075943
|
|
NM_004260.4(RECQL4):c.460A>G (p.Lys154Glu)
|
rs2130728507
|
|
NM_004260.4(RECQL4):c.461_462del (p.Lys154fs)
|
|
|
NM_004260.4(RECQL4):c.462A>G (p.Lys154=)
|
|
|
NM_004260.4(RECQL4):c.462_463insC (p.Val155fs)
|
rs2130728440
|
|
NM_004260.4(RECQL4):c.463G>C (p.Val155Leu)
|
|
|
NM_004260.4(RECQL4):c.464T>A (p.Val155Asp)
|
|
|
NM_004260.4(RECQL4):c.464T>G (p.Val155Gly)
|
|
|
NM_004260.4(RECQL4):c.465C>G (p.Val155=)
|
rs116137512
|
|
NM_004260.4(RECQL4):c.465C>T (p.Val155=)
|
rs116137512
|
|
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys)
|
rs1586826374
|
|
NM_004260.4(RECQL4):c.468T>A (p.Ser156Arg)
|
|
|
NM_004260.4(RECQL4):c.468T>C (p.Ser156=)
|
rs757169988
|
|
NM_004260.4(RECQL4):c.46C>A (p.Arg16Ser)
|
|
|
NM_004260.4(RECQL4):c.470A>G (p.Asp157Gly)
|
rs1815072083
|
|
NM_004260.4(RECQL4):c.471T>C (p.Asp157=)
|
rs1586826326
|
|
NM_004260.4(RECQL4):c.471T>G (p.Asp157Glu)
|
|
|
NM_004260.4(RECQL4):c.472G>C (p.Glu158Gln)
|
rs1387642543
|
|
NM_004260.4(RECQL4):c.473A>T (p.Glu158Val)
|
rs2130728222
|
|
NM_004260.4(RECQL4):c.474G>A (p.Glu158=)
|
rs1186107059
|
|
NM_004260.4(RECQL4):c.476C>A (p.Pro159His)
|
|
|
NM_004260.4(RECQL4):c.476C>T (p.Pro159Leu)
|
rs1815070006
|
|
NM_004260.4(RECQL4):c.478C>G (p.Pro160Ala)
|
rs758124770
|
|
NM_004260.4(RECQL4):c.478C>T (p.Pro160Ser)
|
rs758124770
|
|
NM_004260.4(RECQL4):c.479C>T (p.Pro160Leu)
|
rs752454965
|
|
NM_004260.4(RECQL4):c.47G>A (p.Arg16His)
|
|
|
NM_004260.4(RECQL4):c.480A>T (p.Pro160=)
|
|
|
NM_004260.4(RECQL4):c.481C>T (p.Gln161Ter)
|
|
|
NM_004260.4(RECQL4):c.483G>A (p.Gln161=)
|
rs985628516
|
|
NM_004260.4(RECQL4):c.484C>T (p.Leu162Phe)
|
rs2130727988
|
|
NM_004260.4(RECQL4):c.486C>A (p.Leu162=)
|
rs955555365
|
|
NM_004260.4(RECQL4):c.486C>T (p.Leu162=)
|
rs955555365
|
|
NM_004260.4(RECQL4):c.487C>T (p.Pro163Ser)
|
rs1815067197
|
|
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
|
|
|
NM_004260.4(RECQL4):c.488C>T (p.Pro163Leu)
|
|
|
NM_004260.4(RECQL4):c.489T>C (p.Pro163=)
|
|
|
NM_004260.4(RECQL4):c.48C>T (p.Arg16=)
|
|
|
NM_004260.4(RECQL4):c.490G>C (p.Glu164Gln)
|
rs576735078
|
|
NM_004260.4(RECQL4):c.491A>G (p.Glu164Gly)
|
rs1554903532
|
|
NM_004260.4(RECQL4):c.495C>A (p.Pro165=)
|
rs1361421482
|
|
NM_004260.4(RECQL4):c.496C>T (p.Gln166Ter)
|
rs2130727746
|
|
NM_004260.4(RECQL4):c.497A>G (p.Gln166Arg)
|
rs1815064202
|
|
NM_004260.4(RECQL4):c.498G>A (p.Gln166=)
|
rs761189570
|
|
NM_004260.4(RECQL4):c.498G>C (p.Gln166His)
|
|
|
NM_004260.4(RECQL4):c.499C>T (p.Pro167Ser)
|
rs1312949637
|
|
NM_004260.4(RECQL4):c.49G>A (p.Ala17Thr)
|
|
|
NM_004260.4(RECQL4):c.4G>C (p.Glu2Gln)
|
|
|
NM_004260.4(RECQL4):c.500C>T (p.Pro167Leu)
|
|
|
NM_004260.4(RECQL4):c.506C>T (p.Pro169Leu)
|
rs1815062742
|
|
NM_004260.4(RECQL4):c.508G>A (p.Gly170Ser)
|
rs774750928
|
|
NM_004260.4(RECQL4):c.508G>C (p.Gly170Arg)
|
|
|
NM_004260.4(RECQL4):c.509G>C (p.Gly170Ala)
|
rs768956367
|
|
NM_004260.4(RECQL4):c.50C>T (p.Ala17Val)
|
rs1815433589
|
|
NM_004260.4(RECQL4):c.50_51dup (p.Phe18fs)
|
rs1391918705
|
|
NM_004260.4(RECQL4):c.511C>G (p.Arg171Gly)
|
rs775651175
|
|
NM_004260.4(RECQL4):c.512G>T (p.Arg171Leu)
|
rs770777125
|
|
NM_004260.4(RECQL4):c.513G>C (p.Arg171=)
|
rs878854651
|
|
NM_004260.4(RECQL4):c.516C>G (p.Leu172=)
|
rs1554903496
|
|
NM_004260.4(RECQL4):c.519G>A (p.Gln173=)
|
|
|
NM_004260.4(RECQL4):c.519G>T (p.Gln173His)
|
|
|
NM_004260.4(RECQL4):c.51G>A (p.Ala17=)
|
rs1586835768
|
|
NM_004260.4(RECQL4):c.51G>C (p.Ala17=)
|
rs1586835768
|
|
NM_004260.4(RECQL4):c.520C>A (p.His174Asn)
|
rs369382124
|
|
NM_004260.4(RECQL4):c.520C>G (p.His174Asp)
|
rs369382124
|
|
NM_004260.4(RECQL4):c.520C>T (p.His174Tyr)
|
rs369382124
|
|
NM_004260.4(RECQL4):c.526C>T (p.Gln176Ter)
|
rs2130727195
|
|
NM_004260.4(RECQL4):c.527A>C (p.Gln176Pro)
|
rs2130727180
|
|
NM_004260.4(RECQL4):c.529G>A (p.Ala177Thr)
|
rs2130727146
|
|
NM_004260.4(RECQL4):c.530C>T (p.Ala177Val)
|
|
|
NM_004260.4(RECQL4):c.531A>G (p.Ala177=)
|
|
|
NM_004260.4(RECQL4):c.531A>T (p.Ala177=)
|
|
|
NM_004260.4(RECQL4):c.532T>C (p.Ser178Pro)
|
rs1294313948
|
|
NM_004260.4(RECQL4):c.533C>T (p.Ser178Phe)
|
rs1203672864
|
|
NM_004260.4(RECQL4):c.534C>T (p.Ser178=)
|
|
|
NM_004260.4(RECQL4):c.538A>G (p.Ser180Gly)
|
|
|
NM_004260.4(RECQL4):c.539G>C (p.Ser180Thr)
|
rs1060501378
|
|
NM_004260.4(RECQL4):c.539delinsCTCCCTAGCCCAGC (p.Ser180delinsThrProTer)
|
rs1815053872
|
|
NM_004260.4(RECQL4):c.53T>C (p.Phe18Ser)
|
rs2130745700
|
|
NM_004260.4(RECQL4):c.53del (p.Phe18fs)
|
rs2130745716
|
|
NM_004260.4(RECQL4):c.541C>G (p.Gln181Glu)
|
|
|
NM_004260.4(RECQL4):c.541C>T (p.Gln181Ter)
|
|
|
NM_004260.4(RECQL4):c.542A>G (p.Gln181Arg)
|
rs1001801628
|
|
NM_004260.4(RECQL4):c.543G>C (p.Gln181His)
|
rs34159914
|
|
NM_004260.4(RECQL4):c.544C>G (p.Arg182Gly)
|
rs750986351
|
|
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro)
|
rs565903685
|
|
NM_004260.4(RECQL4):c.545G>T (p.Arg182Leu)
|
|
|
NM_004260.4(RECQL4):c.548T>A (p.Leu183Gln)
|
rs1347831284
|
|
NM_004260.4(RECQL4):c.548T>C (p.Leu183Pro)
|
rs1347831284
|
|
NM_004260.4(RECQL4):c.54C>T (p.Phe18=)
|
rs1291744875
|
|
NM_004260.4(RECQL4):c.554C>A (p.Ser185Tyr)
|
|
|
NM_004260.4(RECQL4):c.555C>T (p.Ser185=)
|
|
|
NM_004260.4(RECQL4):c.556C>G (p.Leu186Val)
|
rs1171892293
|
|
NM_004260.4(RECQL4):c.559G>T (p.Asp187Tyr)
|
|
|
NM_004260.4(RECQL4):c.55C>G (p.Arg19Gly)
|
rs1401366375
|
|
NM_004260.4(RECQL4):c.55C>T (p.Arg19Ter)
|
rs1401366375
|
|
NM_004260.4(RECQL4):c.560A>G (p.Asp187Gly)
|
rs1815046572
|
|
NM_004260.4(RECQL4):c.561T>C (p.Asp187=)
|
rs2130726467
|
|
NM_004260.4(RECQL4):c.561T>G (p.Asp187Glu)
|
rs2130726467
|
|
NM_004260.4(RECQL4):c.563C>A (p.Pro188His)
|
rs773241386
|
|
NM_004260.4(RECQL4):c.563C>G (p.Pro188Arg)
|
rs773241386
|
|
NM_004260.4(RECQL4):c.566G>A (p.Gly189Asp)
|
rs1564808143
|
|
NM_004260.4(RECQL4):c.567C>T (p.Gly189=)
|
rs1815044301
|
|
NM_004260.4(RECQL4):c.569G>C (p.Trp190Ser)
|
rs2130726288
|
|
NM_004260.4(RECQL4):c.56G>T (p.Arg19Leu)
|
|
|
NM_004260.4(RECQL4):c.573A>G (p.Leu191=)
|
|
|
NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter)
|
rs1564808132
|
|
NM_004260.4(RECQL4):c.577C>T (p.Arg193Ter)
|
rs754986197
|
|
NM_004260.4(RECQL4):c.581G>A (p.Cys194Tyr)
|
rs1206707992
|
|
NM_004260.4(RECQL4):c.586A>G (p.Ser196Gly)
|
|
|
NM_004260.4(RECQL4):c.58C>T (p.Arg20Trp)
|
rs1564812906
|
|
NM_004260.4(RECQL4):c.592G>T (p.Val198Phe)
|
rs749010505
|
|
NM_004260.4(RECQL4):c.594C>G (p.Val198=)
|
rs1060504214
|
|
NM_004260.4(RECQL4):c.594C>T (p.Val198=)
|
|
|
NM_004260.4(RECQL4):c.595C>T (p.Pro199Ser)
|
|
|
NM_004260.4(RECQL4):c.596C>T (p.Pro199Leu)
|
rs1564808023
|
|
NM_004260.4(RECQL4):c.597A>C (p.Pro199=)
|
|
|
NM_004260.4(RECQL4):c.597A>G (p.Pro199=)
|
|
|
NM_004260.4(RECQL4):c.598G>A (p.Asp200Asn)
|
rs779547501
|
|
NM_004260.4(RECQL4):c.59G>A (p.Arg20Gln)
|
|
|
NM_004260.4(RECQL4):c.5A>G (p.Glu2Gly)
|
rs2130746663
|
|
NM_004260.4(RECQL4):c.603T>C (p.Phe201=)
|
rs1300462160
|
|
NM_004260.4(RECQL4):c.603T>G (p.Phe201Leu)
|
rs1300462160
|
|
NM_004260.4(RECQL4):c.604C>G (p.Leu202Val)
|
rs61754062
|
|
NM_004260.4(RECQL4):c.605T>C (p.Leu202Pro)
|
|
|
NM_004260.4(RECQL4):c.610G>A (p.Ala204Thr)
|
|
|
NM_004260.4(RECQL4):c.610G>C (p.Ala204Pro)
|
rs879075324
|
|
NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly)
|
rs757780731
|
|
NM_004260.4(RECQL4):c.615del (p.Ala207fs)
|
rs1815033569
|
|
NM_004260.4(RECQL4):c.615dup (p.Lys206fs)
|
rs1815033569
|
|
NM_004260.4(RECQL4):c.619G>T (p.Ala207Ser)
|
rs2130725510
|
|
NM_004260.4(RECQL4):c.620C>T (p.Ala207Val)
|
rs2130725479
|
|
NM_004260.4(RECQL4):c.621C>G (p.Ala207=)
|
rs1554903266
|
|
NM_004260.4(RECQL4):c.621C>T (p.Ala207=)
|
rs1554903266
|
|
NM_004260.4(RECQL4):c.623G>A (p.Cys208Tyr)
|
rs1815031928
|
|
NM_004260.4(RECQL4):c.627G>A (p.Arg209=)
|
rs1586825129
|
|
NM_004260.4(RECQL4):c.627G>T (p.Arg209Ser)
|
rs1586825129
|
|
NM_004260.4(RECQL4):c.629C>T (p.Pro210Leu)
|
|
|
NM_004260.4(RECQL4):c.62A>G (p.Gln21Arg)
|
rs2130745502
|
|
NM_004260.4(RECQL4):c.631G>A (p.Asp211Asn)
|
|
|
NM_004260.4(RECQL4):c.632A>G (p.Asp211Gly)
|
|
|
NM_004260.4(RECQL4):c.634C>A (p.Leu212Ile)
|
rs377012693
|
|
NM_004260.4(RECQL4):c.634C>G (p.Leu212Val)
|
rs377012693
|
|
NM_004260.4(RECQL4):c.635T>G (p.Leu212Arg)
|
rs2130725247
|
|
NM_004260.4(RECQL4):c.636A>G (p.Leu212=)
|
rs541402387
|
|
NM_004260.4(RECQL4):c.637G>A (p.Gly213Ser)
|
|
|
NM_004260.4(RECQL4):c.638G>T (p.Gly213Val)
|
|
|
NM_004260.4(RECQL4):c.639C>G (p.Gly213=)
|
|
|
NM_004260.4(RECQL4):c.639C>T (p.Gly213=)
|
rs774270003
|
|
NM_004260.4(RECQL4):c.63G>A (p.Gln21=)
|
|
|
NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter)
|
rs1317950691
|
|
NM_004260.4(RECQL4):c.641C>T (p.Ser214Leu)
|
|
|
NM_004260.4(RECQL4):c.643G>A (p.Glu215Lys)
|
rs749049274
|
|
NM_004260.4(RECQL4):c.643G>C (p.Glu215Gln)
|
rs749049274
|
|
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)
|
rs1586824938
|
|
NM_004260.4(RECQL4):c.645G>A (p.Glu215=)
|
rs550208182
|
|
NM_004260.4(RECQL4):c.64C>T (p.Arg22Cys)
|
rs960379510
|
|
NM_004260.4(RECQL4):c.64del (p.Arg22fs)
|
|
|
NM_004260.4(RECQL4):c.650C>T (p.Ser217Leu)
|
|
|
NM_004260.4(RECQL4):c.652C>G (p.Gln218Glu)
|
|
|
NM_004260.4(RECQL4):c.652_653del (p.Gln218fs)
|
rs745627867
|
|
NM_004260.4(RECQL4):c.653A>G (p.Gln218Arg)
|
rs1815022318
|
|
NM_004260.4(RECQL4):c.654A>G (p.Gln218=)
|
rs2130724887
|
|
NM_004260.4(RECQL4):c.655C>G (p.Leu219Val)
|
|
|
NM_004260.4(RECQL4):c.657_659del (p.Leu220del)
|
rs2130724840
|
|
NM_004260.4(RECQL4):c.658C>G (p.Leu220Val)
|
rs747576464
|
|
NM_004260.4(RECQL4):c.65G>A (p.Arg22His)
|
|
|
NM_004260.4(RECQL4):c.660G>C (p.Leu220=)
|
rs2130724820
|
|
NM_004260.4(RECQL4):c.660_661del (p.Ile221fs)
|
|
|
NM_004260.4(RECQL4):c.661A>T (p.Ile221Phe)
|
|
|
NM_004260.4(RECQL4):c.663C>G (p.Ile221Met)
|
rs367960606
|
|
NM_004260.4(RECQL4):c.665C>G (p.Pro222Arg)
|
|
|
NM_004260.4(RECQL4):c.665C>T (p.Pro222Leu)
|
rs1452356265
|
|
NM_004260.4(RECQL4):c.668G>A (p.Gly223Asp)
|
|
|
NM_004260.4(RECQL4):c.669T>C (p.Gly223=)
|
rs2130724656
|
|
NM_004260.4(RECQL4):c.670G>T (p.Glu224Ter)
|
rs775600052
|
|
NM_004260.4(RECQL4):c.671A>C (p.Glu224Ala)
|
|
|
NM_004260.4(RECQL4):c.671_694dup (p.Glu224_Gly231dup)
|
rs1423848473
|
|
NM_004260.4(RECQL4):c.672G>A (p.Glu224=)
|
|
|
NM_004260.4(RECQL4):c.672G>C (p.Glu224Asp)
|
|
|
NM_004260.4(RECQL4):c.673T>A (p.Ser225Thr)
|
rs1259887674
|
|
NM_004260.4(RECQL4):c.673T>C (p.Ser225Pro)
|
rs1259887674
|
|
NM_004260.4(RECQL4):c.674C>G (p.Ser225Trp)
|
rs753959069
|
|
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu)
|
rs753959069
|
|
NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs)
|
rs1564807584
|
|
NM_004260.4(RECQL4):c.675G>T (p.Ser225=)
|
rs760733547
|
|
NM_004260.4(RECQL4):c.676G>A (p.Ala226Thr)
|
|
|
NM_004260.4(RECQL4):c.676G>C (p.Ala226Pro)
|
rs2130724478
|
|
NM_004260.4(RECQL4):c.677C>G (p.Ala226Gly)
|
rs763975196
|
|
NM_004260.4(RECQL4):c.679G>A (p.Val227Ile)
|
|
|
NM_004260.4(RECQL4):c.679G>C (p.Val227Leu)
|
|
|
NM_004260.4(RECQL4):c.682C>A (p.Leu228Ile)
|
rs1316434470
|
|
NM_004260.4(RECQL4):c.685G>C (p.Gly229Arg)
|
rs374104402
|
|
NM_004260.4(RECQL4):c.685G>T (p.Gly229Cys)
|
rs374104402
|
|
NM_004260.4(RECQL4):c.686G>A (p.Gly229Asp)
|
rs1049360087
|
|
NM_004260.4(RECQL4):c.686del (p.Gly229fs)
|
rs1586824650
|
|
NM_004260.4(RECQL4):c.688C>A (p.Pro230Thr)
|
rs745571670
|
|
NM_004260.4(RECQL4):c.68G>T (p.Gly23Val)
|
rs1815429028
|
|
NM_004260.4(RECQL4):c.690_709del (p.Gly231fs)
|
rs1586824430
|
|
NM_004260.4(RECQL4):c.691G>A (p.Gly231Ser)
|
rs1001434106
|
|
NM_004260.4(RECQL4):c.692G>A (p.Gly231Asp)
|
rs1363657823
|
|
NM_004260.4(RECQL4):c.694G>A (p.Ala232Thr)
|
rs776332812
|
|
NM_004260.4(RECQL4):c.694_707del (p.Ala232fs)
|
rs2130723893
|
|
NM_004260.4(RECQL4):c.695C>T (p.Ala232Val)
|
|
|
NM_004260.4(RECQL4):c.698G>A (p.Gly233Asp)
|
rs2130724078
|
|
NM_004260.4(RECQL4):c.69G>C (p.Gly23=)
|
|
|
NM_004260.4(RECQL4):c.700T>A (p.Ser234Thr)
|
|
|
NM_004260.4(RECQL4):c.701C>T (p.Ser234Phe)
|
rs746487281
|
|
NM_004260.4(RECQL4):c.703C>T (p.Gln235Ter)
|
|
|
NM_004260.4(RECQL4):c.704A>G (p.Gln235Arg)
|
rs1586824485
|
|
NM_004260.4(RECQL4):c.705G>A (p.Gln235=)
|
rs1177971610
|
|
NM_004260.4(RECQL4):c.705G>C (p.Gln235His)
|
rs1177971610
|
|
NM_004260.4(RECQL4):c.706G>A (p.Gly236Ser)
|
|
|
NM_004260.4(RECQL4):c.707G>A (p.Gly236Asp)
|
rs778457870
|
|
NM_004260.4(RECQL4):c.707G>C (p.Gly236Ala)
|
|
|
NM_004260.4(RECQL4):c.707G>T (p.Gly236Val)
|
rs778457870
|
|
NM_004260.4(RECQL4):c.709C>T (p.Pro237Ser)
|
rs370391716
|
|
NM_004260.4(RECQL4):c.70C>T (p.Arg24Trp)
|
rs1586835635
|
|
NM_004260.4(RECQL4):c.711A>G (p.Pro237=)
|
|
|
NM_004260.4(RECQL4):c.712G>A (p.Glu238Lys)
|
rs587778651
|
|
NM_004260.4(RECQL4):c.712G>C (p.Glu238Gln)
|
|
|
NM_004260.4(RECQL4):c.714G>A (p.Glu238=)
|
rs1197708179
|
|
NM_004260.4(RECQL4):c.715G>A (p.Ala239Thr)
|
|
|
NM_004260.4(RECQL4):c.715G>C (p.Ala239Pro)
|
|
|
NM_004260.4(RECQL4):c.715G>T (p.Ala239Ser)
|
|
|
NM_004260.4(RECQL4):c.715del (p.Ala239fs)
|
|
|
NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp)
|
rs146709578
|
|
NM_004260.4(RECQL4):c.717T>G (p.Ala239=)
|
rs2130723620
|
|
NM_004260.4(RECQL4):c.717_719del (p.Ser240del)
|
|
|
NM_004260.4(RECQL4):c.71G>A (p.Arg24Gln)
|
rs1296633763
|
|
NM_004260.4(RECQL4):c.720A>G (p.Ser240=)
|
|
|
NM_004260.4(RECQL4):c.721G>A (p.Ala241Thr)
|
rs1815000155
|
|
NM_004260.4(RECQL4):c.721G>C (p.Ala241Pro)
|
rs1815000155
|
|
NM_004260.4(RECQL4):c.722C>G (p.Ala241Gly)
|
rs749435879
|
|
NM_004260.4(RECQL4):c.722C>T (p.Ala241Val)
|
rs749435879
|
|
NM_004260.4(RECQL4):c.723C>G (p.Ala241=)
|
|
|
NM_004260.4(RECQL4):c.726C>A (p.Phe242Leu)
|
rs1814998636
|
|
NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del)
|
rs1814996685
|
|
NM_004260.4(RECQL4):c.729A>C (p.Gln243His)
|
rs1227594944
|
|
NM_004260.4(RECQL4):c.72G>A (p.Arg24=)
|
rs2130745315
|
|
NM_004260.4(RECQL4):c.731A>G (p.Glu244Gly)
|
rs1814997320
|
|
NM_004260.4(RECQL4):c.733G>A (p.Val245Ile)
|
rs2130723324
|
|
NM_004260.4(RECQL4):c.734T>G (p.Val245Gly)
|
rs1814996367
|
|
NM_004260.4(RECQL4):c.736A>C (p.Ser246Arg)
|
rs1564807240
|
|
NM_004260.4(RECQL4):c.737G>C (p.Ser246Thr)
|
rs1586824146
|
|
NM_004260.4(RECQL4):c.737_738delinsTT (p.Ser246Ile)
|
|
|
NM_004260.4(RECQL4):c.73C>T (p.Arg25Ter)
|
|
|
NM_004260.4(RECQL4):c.740T>G (p.Ile247Ser)
|
|
|
NM_004260.4(RECQL4):c.741C>G (p.Ile247Met)
|
rs1389538148
|
|
NM_004260.4(RECQL4):c.741C>T (p.Ile247=)
|
rs1389538148
|
|
NM_004260.4(RECQL4):c.745G>C (p.Val249Leu)
|
rs756397882
|
|
NM_004260.4(RECQL4):c.747G>A (p.Val249=)
|
rs770667776
|
|
NM_004260.4(RECQL4):c.748G>A (p.Gly250Arg)
|
rs1174607613
|
|
NM_004260.4(RECQL4):c.750G>T (p.Gly250=)
|
|
|
NM_004260.4(RECQL4):c.752G>A (p.Ser251Asn)
|
|
|
NM_004260.4(RECQL4):c.752G>C (p.Ser251Thr)
|
rs1269997113
|
|
NM_004260.4(RECQL4):c.752G>T (p.Ser251Ile)
|
rs1269997113
|
|
NM_004260.4(RECQL4):c.753C>A (p.Ser251Arg)
|
rs1202043761
|
|
NM_004260.4(RECQL4):c.753C>T (p.Ser251=)
|
rs1202043761
|
|
NM_004260.4(RECQL4):c.754C>T (p.Pro252Ser)
|
rs376485578
|
|
NM_004260.4(RECQL4):c.756C>T (p.Pro252=)
|
|
|
NM_004260.4(RECQL4):c.75A>G (p.Arg25=)
|
rs1815427635
|
|
NM_004260.4(RECQL4):c.763A>G (p.Ser255Gly)
|
|
|
NM_004260.4(RECQL4):c.764G>A (p.Ser255Asn)
|
rs1814987051
|
|
NM_004260.4(RECQL4):c.767G>A (p.Ser256Asn)
|
rs2130722622
|
|
NM_004260.4(RECQL4):c.768C>A (p.Ser256Arg)
|
rs772714143
|
|
NM_004260.4(RECQL4):c.768C>G (p.Ser256Arg)
|
rs772714143
|
|
NM_004260.4(RECQL4):c.768C>T (p.Ser256=)
|
rs772714143
|
|
NM_004260.4(RECQL4):c.769A>G (p.Ser257Gly)
|
rs748671989
|
|
NM_004260.4(RECQL4):c.76C>G (p.Pro26Ala)
|
rs2130745257
|
|
NM_004260.4(RECQL4):c.76C>T (p.Pro26Ser)
|
|
|
NM_004260.4(RECQL4):c.770G>A (p.Ser257Asn)
|
|
|
NM_004260.4(RECQL4):c.771T>C (p.Ser257=)
|
rs1814985856
|
|
NM_004260.4(RECQL4):c.772G>A (p.Gly258Arg)
|
|
|
NM_004260.4(RECQL4):c.77C>G (p.Pro26Arg)
|
rs1815427295
|
|
NM_004260.4(RECQL4):c.780G>C (p.Glu260Asp)
|
rs780272651
|
|
NM_004260.4(RECQL4):c.781A>G (p.Lys261Glu)
|
rs756268379
|
|
NM_004260.4(RECQL4):c.784C>G (p.Arg262Gly)
|
|
|
NM_004260.4(RECQL4):c.786G>A (p.Arg262=)
|
rs1814982421
|
|
NM_004260.4(RECQL4):c.789A>C (p.Arg263Ser)
|
rs1430320264
|
|
NM_004260.4(RECQL4):c.789A>T (p.Arg263Ser)
|
rs1430320264
|
|
NM_004260.4(RECQL4):c.78G>T (p.Pro26=)
|
rs2130745226
|
|
NM_004260.4(RECQL4):c.792del (p.Arg263_Trp264insTer)
|
|
|
NM_004260.4(RECQL4):c.794A>G (p.Asn265Ser)
|
rs1814980293
|
|
NM_004260.4(RECQL4):c.795C>T (p.Asn265=)
|
rs564678543
|
|
NM_004260.4(RECQL4):c.79A>G (p.Ser27Gly)
|
|
|
NM_004260.4(RECQL4):c.7C>G (p.Arg3Gly)
|
rs886042531
|
|
NM_004260.4(RECQL4):c.801G>T (p.Glu267Asp)
|
rs4244612
|
|
NM_004260.4(RECQL4):c.804C>G (p.Pro268=)
|
rs1240656822
|
|
NM_004260.4(RECQL4):c.804C>T (p.Pro268=)
|
rs1240656822
|
|
NM_004260.4(RECQL4):c.805del (p.Trp269fs)
|
rs1060501370
|
|
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)
|
rs137853231
|
|
NM_004260.4(RECQL4):c.80G>A (p.Ser27Asn)
|
rs1815426587
|
|
NM_004260.4(RECQL4):c.812G>A (p.Ser271Asn)
|
|
|
NM_004260.4(RECQL4):c.812G>C (p.Ser271Thr)
|
|
|
NM_004260.4(RECQL4):c.814C>A (p.Pro272Thr)
|
rs1202501641
|
|
NM_004260.4(RECQL4):c.814C>T (p.Pro272Ser)
|
|
|
NM_004260.4(RECQL4):c.815C>T (p.Pro272Leu)
|
rs771543750
|
|
NM_004260.4(RECQL4):c.816C>G (p.Pro272=)
|
|
|
NM_004260.4(RECQL4):c.818C>T (p.Ala273Val)
|
rs1349749745
|
|
NM_004260.4(RECQL4):c.819A>C (p.Ala273=)
|
rs1586823356
|
|
NM_004260.4(RECQL4):c.819A>G (p.Ala273=)
|
rs1586823356
|
|
NM_004260.4(RECQL4):c.81C>T (p.Ser27=)
|
rs2130745168
|
|
NM_004260.4(RECQL4):c.820C>A (p.Gln274Lys)
|
|
|
NM_004260.4(RECQL4):c.821A>G (p.Gln274Arg)
|
rs1279942403
|
|
NM_004260.4(RECQL4):c.822G>A (p.Gln274=)
|
|
|
NM_004260.4(RECQL4):c.823G>A (p.Val275Ile)
|
rs1814968941
|
|
NM_004260.4(RECQL4):c.823G>C (p.Val275Leu)
|
|
|
NM_004260.4(RECQL4):c.825C>A (p.Val275=)
|
rs1814968623
|
|
NM_004260.4(RECQL4):c.828G>C (p.Gln276His)
|
|
|
NM_004260.4(RECQL4):c.829C>A (p.Gln277Lys)
|
|
|
NM_004260.4(RECQL4):c.82C>A (p.Gln28Lys)
|
rs794726912
|
|
NM_004260.4(RECQL4):c.82C>G (p.Gln28Glu)
|
|
|
NM_004260.4(RECQL4):c.830A>T (p.Gln277Leu)
|
rs913014713
|
|
NM_004260.4(RECQL4):c.833A>G (p.Glu278Gly)
|
|
|
NM_004260.4(RECQL4):c.837C>G (p.Ser279Arg)
|
rs1814966596
|
|
NM_004260.4(RECQL4):c.837C>T (p.Ser279=)
|
rs1814966596
|
|
NM_004260.4(RECQL4):c.84+10G>T
|
|
|
NM_004260.4(RECQL4):c.84+11C>T
|
|
|
NM_004260.4(RECQL4):c.84+13C>G
|
|
|
NM_004260.4(RECQL4):c.84+13_84+20del
|
|
|
NM_004260.4(RECQL4):c.84+16G>A
|
|
|
NM_004260.4(RECQL4):c.84+17G>T
|
rs794726914
|
|
NM_004260.4(RECQL4):c.84+18G>A
|
|
|
NM_004260.4(RECQL4):c.84+1G>A
|
rs1815425378
|
|
NM_004260.4(RECQL4):c.84+2T>G
|
|
|
NM_004260.4(RECQL4):c.84+2dup
|
|
|
NM_004260.4(RECQL4):c.84+4C>A
|
|
|
NM_004260.4(RECQL4):c.84+5G>A
|
|
|
NM_004260.4(RECQL4):c.84+5G>C
|
rs1060501367
|
|
NM_004260.4(RECQL4):c.84+5G>T
|
rs1060501367
|
|
NM_004260.4(RECQL4):c.84+7G>A
|
|
|
NM_004260.4(RECQL4):c.84+9_84+16del
|
rs2130744877
|
|
NM_004260.4(RECQL4):c.840C>G (p.Ser280Arg)
|
rs1407076588
|
|
NM_004260.4(RECQL4):c.842A>G (p.Gln281Arg)
|
|
|
NM_004260.4(RECQL4):c.843_847dup (p.Gly283fs)
|
rs2130721433
|
|
NM_004260.4(RECQL4):c.845C>A (p.Ala282Asp)
|
|
|
NM_004260.4(RECQL4):c.845C>G (p.Ala282Gly)
|
rs770138627
|
|
NM_004260.4(RECQL4):c.846T>G (p.Ala282=)
|
rs1361365840
|
|
NM_004260.4(RECQL4):c.847G>A (p.Gly283Arg)
|
rs2130721404
|
|
NM_004260.4(RECQL4):c.847G>C (p.Gly283Arg)
|
|
|
NM_004260.4(RECQL4):c.848G>T (p.Gly283Val)
|
rs1814964597
|
|
NM_004260.4(RECQL4):c.849A>G (p.Gly283=)
|
rs1814964291
|
|
NM_004260.4(RECQL4):c.84G>A (p.Gln28=)
|
rs1586835584
|
|
NM_004260.4(RECQL4):c.84G>C (p.Gln28His)
|
rs1586835584
|
|
NM_004260.4(RECQL4):c.85-13G>C
|
rs568000575
|
|
NM_004260.4(RECQL4):c.85-16C>T
|
|
|
NM_004260.4(RECQL4):c.85-17A>C
|
rs1008911481
|
|
NM_004260.4(RECQL4):c.85-17A>G
|
|
|
NM_004260.4(RECQL4):c.85-18G>A
|
rs376586915
|
|
NM_004260.4(RECQL4):c.85-18G>T
|
|
|
NM_004260.4(RECQL4):c.85-19_85-18delinsCT
|
rs2130744230
|
|
NM_004260.4(RECQL4):c.85-21_85-12del
|
rs2130744106
|
|
NM_004260.4(RECQL4):c.85-26_85-20del
|
rs2130744255
|
|
NM_004260.4(RECQL4):c.85-26_85-20dup
|
|
|
NM_004260.4(RECQL4):c.85-2A>G
|
rs1227874093
|
|
NM_004260.4(RECQL4):c.85-4A>G
|
rs942704068
|
|
NM_004260.4(RECQL4):c.85-5T>C
|
rs1815407702
|
|
NM_004260.4(RECQL4):c.85-5T>G
|
rs1815407702
|
|
NM_004260.4(RECQL4):c.85-9C>G
|
|
|
NM_004260.4(RECQL4):c.854del (p.Pro285fs)
|
rs1292831710
|
|
NM_004260.4(RECQL4):c.854dup (p.Ser286fs)
|
|
|
NM_004260.4(RECQL4):c.855A>G (p.Pro285=)
|
rs781369627
|
|
NM_004260.4(RECQL4):c.855A>T (p.Pro285=)
|
rs781369627
|
|
NM_004260.4(RECQL4):c.857C>G (p.Ser286Trp)
|
rs757320755
|
|
NM_004260.4(RECQL4):c.858G>C (p.Ser286=)
|
rs1712693458
|
|
NM_004260.4(RECQL4):c.861G>A (p.Glu287=)
|
|
|
NM_004260.4(RECQL4):c.862G>C (p.Gly288Arg)
|
rs199706417
|
|
NM_004260.4(RECQL4):c.863G>A (p.Gly288Glu)
|
rs980430542
|
|
NM_004260.4(RECQL4):c.863GGGCTG[3] (p.288GA[3])
|
rs1554902664
|
|
NM_004260.4(RECQL4):c.865G>C (p.Ala289Pro)
|
|
|
NM_004260.4(RECQL4):c.865del (p.Ala289fs)
|
|
|
NM_004260.4(RECQL4):c.866C>T (p.Ala289Val)
|
rs1586823053
|
|
NM_004260.4(RECQL4):c.868G>A (p.Gly290Arg)
|
rs1814954879
|
|
NM_004260.4(RECQL4):c.86A>G (p.Asp29Gly)
|
|
|
NM_004260.4(RECQL4):c.871G>A (p.Ala291Thr)
|
rs1814953388
|
|
NM_004260.4(RECQL4):c.871del (p.Ala291fs)
|
rs1389647533
|
|
NM_004260.4(RECQL4):c.872C>T (p.Ala291Val)
|
rs1396400224
|
|
NM_004260.4(RECQL4):c.874G>A (p.Val292Ile)
|
rs1814952259
|
|
NM_004260.4(RECQL4):c.877G>A (p.Ala293Thr)
|
|
|
NM_004260.4(RECQL4):c.87C>T (p.Asp29=)
|
rs2130743879
|
|
NM_004260.4(RECQL4):c.880G>A (p.Val294Ile)
|
rs753691518
|
|
NM_004260.4(RECQL4):c.881T>C (p.Val294Ala)
|
rs766346414
|
|
NM_004260.4(RECQL4):c.882T>G (p.Val294=)
|
|
|
NM_004260.4(RECQL4):c.885G>A (p.Glu295=)
|
|
|
NM_004260.4(RECQL4):c.88G>C (p.Asp30His)
|
|
|
NM_004260.4(RECQL4):c.891C>A (p.Asp297Glu)
|
|
|
NM_004260.4(RECQL4):c.891C>G (p.Asp297Glu)
|
rs34700133
|
|
NM_004260.4(RECQL4):c.892C>A (p.Pro298Thr)
|
|
|
NM_004260.4(RECQL4):c.893C>T (p.Pro298Leu)
|
rs373334948
|
|
NM_004260.4(RECQL4):c.895C>G (p.Pro299Ala)
|
rs1319378486
|
|
NM_004260.4(RECQL4):c.895C>T (p.Pro299Ser)
|
rs1319378486
|
|
NM_004260.4(RECQL4):c.897del (p.Glu301fs)
|
rs2130720341
|
|
NM_004260.4(RECQL4):c.898G>A (p.Gly300Arg)
|
rs764510816
|
|
NM_004260.4(RECQL4):c.899G>A (p.Gly300Glu)
|
rs369842607
|
|
NM_004260.4(RECQL4):c.899G>T (p.Gly300Val)
|
|
|
NM_004260.4(RECQL4):c.89A>G (p.Asp30Gly)
|
|
|
NM_004260.4(RECQL4):c.8G>A (p.Arg3Gln)
|
rs979012066
|
|
NM_004260.4(RECQL4):c.8_10dup (p.Arg3_Leu4insArg)
|
|
|
NM_004260.4(RECQL4):c.903A>T (p.Glu301Asp)
|
rs746200109
|
|
NM_004260.4(RECQL4):c.904C>G (p.Pro302Ala)
|
rs771135444
|
|
NM_004260.4(RECQL4):c.905C>A (p.Pro302His)
|
|
|
NM_004260.4(RECQL4):c.905C>G (p.Pro302Arg)
|
|
|
NM_004260.4(RECQL4):c.905C>T (p.Pro302Leu)
|
rs1242395636
|
|
NM_004260.4(RECQL4):c.906T>C (p.Pro302=)
|
rs747075173
|
|
NM_004260.4(RECQL4):c.906T>G (p.Pro302=)
|
|
|
NM_004260.4(RECQL4):c.907G>A (p.Val303Ile)
|
rs1489813654
|
|
NM_004260.4(RECQL4):c.907G>T (p.Val303Leu)
|
rs1489813654
|
|
NM_004260.4(RECQL4):c.90C>T (p.Asp30=)
|
rs925971380
|
|
NM_004260.4(RECQL4):c.910C>G (p.Gln304Glu)
|
|
|
NM_004260.4(RECQL4):c.910_917dup (p.Gln306fs)
|
|
|
NM_004260.4(RECQL4):c.911A>G (p.Gln304Arg)
|
rs2130720006
|
|
NM_004260.4(RECQL4):c.915A>G (p.Ala305=)
|
|
|
NM_004260.4(RECQL4):c.917_922dup (p.Pro307_Pro308insGlnPro)
|
|
|
NM_004260.4(RECQL4):c.922C>A (p.Pro308Thr)
|
rs756016498
|
|
NM_004260.4(RECQL4):c.922C>T (p.Pro308Ser)
|
|
|
NM_004260.4(RECQL4):c.923C>G (p.Pro308Arg)
|
|
|
NM_004260.4(RECQL4):c.924T>C (p.Pro308=)
|
rs2130719766
|
|
NM_004260.4(RECQL4):c.925C>G (p.Gln309Glu)
|
rs1554902528
|
|
NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter)
|
rs1554902528
|
|
NM_004260.4(RECQL4):c.926A>C (p.Gln309Pro)
|
rs2130719699
|
|
NM_004260.4(RECQL4):c.926A>G (p.Gln309Arg)
|
|
|
NM_004260.4(RECQL4):c.927G>A (p.Gln309=)
|
|
|
NM_004260.4(RECQL4):c.927G>T (p.Gln309His)
|
rs1814934410
|
|
NM_004260.4(RECQL4):c.928C>T (p.Pro310Ser)
|
rs1060501376
|
|
NM_004260.4(RECQL4):c.929C>T (p.Pro310Leu)
|
rs368504960
|
|
NM_004260.4(RECQL4):c.929_930delinsTT (p.Pro310Leu)
|
rs2130719606
|
|
NM_004260.4(RECQL4):c.92T>C (p.Val31Ala)
|
|
|
NM_004260.4(RECQL4):c.930C>T (p.Pro310=)
|
rs751163976
|
|
NM_004260.4(RECQL4):c.931T>G (p.Cys311Gly)
|
|
|
NM_004260.4(RECQL4):c.931_950del (p.Cys311fs)
|
|
|
NM_004260.4(RECQL4):c.933C>T (p.Cys311=)
|
rs1456293772
|
|
NM_004260.4(RECQL4):c.934A>G (p.Ser312Gly)
|
|
|
NM_004260.4(RECQL4):c.935G>A (p.Ser312Asn)
|
|
|
NM_004260.4(RECQL4):c.936C>T (p.Ser312=)
|
rs2130719466
|
|
NM_004260.4(RECQL4):c.941C>T (p.Pro314Leu)
|
rs1814931093
|
|
NM_004260.4(RECQL4):c.942A>G (p.Pro314=)
|
rs567678020
|
|
NM_004260.4(RECQL4):c.944C>G (p.Ser315Trp)
|
rs376493359
|
|
NM_004260.4(RECQL4):c.945G>T (p.Ser315=)
|
|
|
NM_004260.4(RECQL4):c.946A>C (p.Asn316His)
|
rs915773238
|
|
NM_004260.4(RECQL4):c.948C>T (p.Asn316=)
|
rs747324399
|
|
NM_004260.4(RECQL4):c.94G>C (p.Glu32Gln)
|
rs1815404112
|
|
NM_004260.4(RECQL4):c.950C>T (p.Pro317Leu)
|
rs2130719164
|
|
NM_004260.4(RECQL4):c.952A>G (p.Arg318Gly)
|
rs2130719127
|
|
NM_004260.4(RECQL4):c.953G>A (p.Arg318Lys)
|
rs1814927713
|
|
NM_004260.4(RECQL4):c.953G>C (p.Arg318Thr)
|
rs1814927713
|
|
NM_004260.4(RECQL4):c.954G>C (p.Arg318Ser)
|
|
|
NM_004260.4(RECQL4):c.956A>G (p.Tyr319Cys)
|
rs773296181
|
|
NM_004260.4(RECQL4):c.958_960dup (p.His320_Gly321insHis)
|
|
|
NM_004260.4(RECQL4):c.960C>G (p.His320Gln)
|
|
|
NM_004260.4(RECQL4):c.960C>T (p.His320=)
|
rs772329750
|
|
NM_004260.4(RECQL4):c.964C>A (p.Leu322Ile)
|
rs780176764
|
|
NM_004260.4(RECQL4):c.964C>T (p.Leu322Phe)
|
rs780176764
|
|
NM_004260.4(RECQL4):c.965T>C (p.Leu322Pro)
|
rs2130718879
|
|
NM_004260.4(RECQL4):c.966C>T (p.Leu322=)
|
rs2130718864
|
|
NM_004260.4(RECQL4):c.968G>A (p.Ser323Asn)
|
|
|
NM_004260.4(RECQL4):c.969C>G (p.Ser323Arg)
|
rs745658597
|
|
NM_004260.4(RECQL4):c.971C>T (p.Pro324Leu)
|
rs756986756
|
|
NM_004260.4(RECQL4):c.972C>T (p.Pro324=)
|
rs1814923170
|
|
NM_004260.4(RECQL4):c.972_973delinsTC (p.Ser325Pro)
|
|
|
NM_004260.4(RECQL4):c.974C>G (p.Ser325Cys)
|
rs1441068518
|
|
NM_004260.4(RECQL4):c.974C>T (p.Ser325Phe)
|
rs1441068518
|
|
NM_004260.4(RECQL4):c.975C>T (p.Ser325=)
|
|
|
NM_004260.4(RECQL4):c.977G>A (p.Ser326Asn)
|
|
|
NM_004260.4(RECQL4):c.977G>T (p.Ser326Ile)
|
rs1586822184
|
|
NM_004260.4(RECQL4):c.980A>C (p.Gln327Pro)
|
rs1183506714
|
|
NM_004260.4(RECQL4):c.981A>G (p.Gln327=)
|
rs751271908
|
|
NM_004260.4(RECQL4):c.982G>C (p.Ala328Pro)
|
rs2130718555
|
|
NM_004260.4(RECQL4):c.983C>G (p.Ala328Gly)
|
rs777258662
|
|
NM_004260.4(RECQL4):c.984T>C (p.Ala328=)
|
|
|
NM_004260.4(RECQL4):c.986G>A (p.Arg329Lys)
|
rs1814915989
|
|
NM_004260.4(RECQL4):c.986G>C (p.Arg329Thr)
|
|
|
NM_004260.4(RECQL4):c.988_1004del (p.Ala330fs)
|
rs2130718160
|
|
NM_004260.4(RECQL4):c.988dup (p.Ala330fs)
|
rs2130718434
|
|
NM_004260.4(RECQL4):c.989C>T (p.Ala330Val)
|
|
|
NM_004260.4(RECQL4):c.98C>T (p.Ala33Val)
|
|
|
NM_004260.4(RECQL4):c.991G>A (p.Gly331Arg)
|
rs2130718366
|
|
NM_004260.4(RECQL4):c.996G>A (p.Lys332=)
|
rs1564805921
|
|
NM_004260.4(RECQL4):c.9G>A (p.Arg3=)
|
rs2130746610
|
|