NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met)
|
rs148860986
|
0.00105
|
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp)
|
rs141383715
|
0.00084
|
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)
|
rs201180083
|
0.00063
|
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met)
|
rs73033442
|
0.00055
|
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr)
|
rs140623081
|
0.00050
|
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val)
|
rs369815468
|
0.00046
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys)
|
rs1035057882
|
0.00042
|
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)
|
rs925811677
|
0.00039
|
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)
|
rs151116615
|
0.00039
|
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)
|
rs149578956
|
0.00039
|
NM_004260.4(RECQL4):c.3055+5G>A
|
rs377031190
|
0.00038
|
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)
|
rs762456224
|
0.00035
|
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser)
|
rs142655964
|
0.00035
|
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu)
|
rs979012066
|
0.00033
|
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met)
|
rs141221243
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met)
|
rs372990477
|
0.00029
|
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys)
|
rs143215498
|
0.00029
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu)
|
rs368693886
|
0.00025
|
NM_004260.4(RECQL4):c.214-3C>A
|
rs367849648
|
0.00025
|
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)
|
rs372955721
|
0.00024
|
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)
|
rs202043854
|
0.00024
|
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp)
|
rs373178405
|
0.00024
|
NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr)
|
rs970075256
|
0.00024
|
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)
|
rs141190788
|
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_052989.3(IFT122):c.2420C>T (p.Pro807Leu)
|
rs193183329
|
0.00020
|
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=)
|
rs149716961
|
0.00019
|
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=)
|
rs145630132
|
0.00019
|
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met)
|
rs201661055
|
0.00019
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)
|
rs139352103
|
0.00019
|
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile)
|
rs374188891
|
0.00019
|
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp)
|
rs199886551
|
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_020779.4(WDR35):c.1330C>T (p.Arg444Cys)
|
rs148510977
|
0.00018
|
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr)
|
rs144831946
|
0.00017
|
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln)
|
rs773886995
|
0.00016
|
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu)
|
rs562936594
|
0.00016
|
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val)
|
rs142042363
|
0.00016
|
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln)
|
rs375562152
|
0.00016
|
NM_004260.4(RECQL4):c.92T>G (p.Val31Gly)
|
rs904809747
|
0.00016
|
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)
|
rs138803099
|
0.00016
|
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys)
|
rs756006241
|
0.00016
|
NM_001271938.2(MEGF8):c.351+4A>G
|
rs753271808
|
0.00015
|
NM_004260.4(RECQL4):c.2285A>G (p.Gln762Arg)
|
rs543333975
|
0.00015
|
NM_004260.4(RECQL4):c.2907C>G (p.Cys969Trp)
|
rs772780752
|
0.00015
|
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)
|
rs370951527
|
0.00015
|
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly)
|
rs755556032
|
0.00015
|
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr)
|
rs373631162
|
0.00014
|
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln)
|
rs139601509
|
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_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg)
|
rs141539693
|
0.00014
|
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_016277.5(RAB23):c.25G>A (p.Ala9Thr)
|
rs150655349
|
0.00013
|
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)
|
rs369515554
|
0.00013
|
NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln)
|
rs542466006
|
0.00012
|
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)
|
rs200910137
|
0.00011
|
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His)
|
rs759275421
|
0.00011
|
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met)
|
rs760894129
|
0.00011
|
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.3394-9T>G
|
rs746656592
|
0.00011
|
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys)
|
rs202134651
|
0.00011
|
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)
|
rs374073530
|
0.00011
|
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln)
|
rs539243373
|
0.00011
|
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)
|
rs147341636
|
0.00011
|
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=)
|
rs764014679
|
0.00010
|
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.3119C>A (p.Pro1040Gln)
|
rs370867731
|
0.00010
|
NM_004260.4(RECQL4):c.3185G>A (p.Arg1062Gln)
|
rs558058260
|
0.00010
|
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu)
|
rs550470182
|
0.00010
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg)
|
rs147068787
|
0.00009
|
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp)
|
rs200195292
|
0.00009
|
NM_004260.4(RECQL4):c.1165T>C (p.Cys389Arg)
|
rs551814194
|
0.00009
|
NM_004260.4(RECQL4):c.1720G>A (p.Val574Ile)
|
rs368983561
|
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.2837G>A (p.Arg946His)
|
rs773154902
|
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.392G>A (p.Gly131Glu)
|
rs542844885
|
0.00009
|
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys)
|
rs201301365
|
0.00009
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)
|
rs201054877
|
0.00009
|
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val)
|
rs115715082
|
0.00009
|
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)
|
rs201755623
|
0.00009
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_004260.4(RECQL4):c.1040G>A (p.Arg347His)
|
rs757988816
|
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.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.3431G>A (p.Arg1144His)
|
rs746892308
|
0.00008
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)
|
rs147499719
|
0.00008
|
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)
|
rs376018883
|
0.00008
|
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser)
|
rs370106282
|
0.00007
|
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys)
|
rs143643113
|
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.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_020779.4(WDR35):c.2230G>A (p.Glu744Lys)
|
rs1420842472
|
0.00007
|
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)
|
rs774768083
|
0.00007
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)
|
rs377620009
|
0.00007
|
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe)
|
rs763332787
|
0.00007
|
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)
|
rs1305059157
|
0.00006
|
NM_001271938.2(MEGF8):c.1391-3C>T
|
rs377586547
|
0.00006
|
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln)
|
rs146355445
|
0.00006
|
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys)
|
rs762398666
|
0.00006
|
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr)
|
rs777483950
|
0.00006
|
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp)
|
rs772299336
|
0.00006
|
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr)
|
rs757924699
|
0.00006
|
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
|
rs372350131
|
0.00006
|
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr)
|
rs373293709
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg)
|
rs201763704
|
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.175C>T (p.Leu59Phe)
|
rs752508496
|
0.00006
|
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp)
|
rs766726409
|
0.00006
|
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His)
|
rs771179943
|
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.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.2687T>C (p.Val896Ala)
|
rs373763805
|
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.3358G>A (p.Glu1120Lys)
|
rs776023102
|
0.00006
|
NM_004260.4(RECQL4):c.3361G>A (p.Asp1121Asn)
|
rs377390897
|
0.00006
|
NM_004260.4(RECQL4):c.3502G>A (p.Gly1168Arg)
|
rs781543298
|
0.00006
|
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys)
|
rs540719285
|
0.00006
|
NM_004260.4(RECQL4):c.961G>A (p.Gly321Arg)
|
rs748212145
|
0.00006
|
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)
|
rs776515230
|
0.00006
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)
|
rs377535267
|
0.00006
|
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val)
|
rs754516323
|
0.00006
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
NM_020779.4(WDR35):c.817T>G (p.Phe273Val)
|
rs370377789
|
0.00006
|
NM_023110.3(FGFR1):c.2292+3A>G
|
rs747737281
|
0.00006
|
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)
|
rs139079256
|
0.00006
|
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln)
|
rs146270512
|
0.00006
|
NM_052989.3(IFT122):c.1940G>A (p.Arg647His)
|
rs750301228
|
0.00006
|
NM_052989.3(IFT122):c.273-268A>T
|
rs376246143
|
0.00006
|
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)
|
rs555281580
|
0.00006
|
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His)
|
rs576743578
|
0.00006
|
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)
|
rs771499492
|
0.00006
|
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)
|
rs140547512
|
0.00006
|
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp)
|
rs371283114
|
0.00005
|
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val)
|
rs746330794
|
0.00005
|
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys)
|
rs142361779
|
0.00005
|
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp)
|
rs139859934
|
0.00005
|
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu)
|
rs769598183
|
0.00005
|
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln)
|
rs766621187
|
0.00005
|
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
|
rs774648274
|
0.00005
|
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln)
|
rs549497811
|
0.00005
|
NM_004260.4(RECQL4):c.1826G>A (p.Cys609Tyr)
|
rs939040910
|
0.00005
|
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala)
|
rs370912793
|
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.3011G>A (p.Arg1004Gln)
|
rs750261857
|
0.00005
|
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu)
|
rs368671582
|
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.778G>A (p.Glu260Lys)
|
rs370919817
|
0.00005
|
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)
|
rs763618858
|
0.00005
|
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile)
|
rs201443916
|
0.00005
|
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)
|
rs746602135
|
0.00005
|
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile)
|
rs138028750
|
0.00005
|
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp)
|
rs755493101
|
0.00005
|
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys)
|
rs553534590
|
0.00004
|
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)
|
rs746031284
|
0.00004
|
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val)
|
rs913420234
|
0.00004
|
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His)
|
rs370984978
|
0.00004
|
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met)
|
rs370225382
|
0.00004
|
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys)
|
rs753671779
|
0.00004
|
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg)
|
rs770472361
|
0.00004
|
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser)
|
rs914088074
|
0.00004
|
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)
|
rs376248434
|
0.00004
|
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)
|
rs370217718
|
0.00004
|
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu)
|
rs781193859
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
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.1286G>A (p.Gly429Glu)
|
rs761033231
|
0.00004
|
NM_004260.4(RECQL4):c.1288C>T (p.Pro430Ser)
|
rs773561522
|
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.16G>A (p.Asp6Asn)
|
rs1009265867
|
0.00004
|
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser)
|
rs764839023
|
0.00004
|
NM_004260.4(RECQL4):c.1942A>G (p.Thr648Ala)
|
rs1395849719
|
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.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.2525T>C (p.Val842Ala)
|
rs749829542
|
0.00004
|
NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe)
|
rs367559549
|
0.00004
|
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr)
|
rs186739072
|
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.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.3218C>T (p.Thr1073Ile)
|
rs775225569
|
0.00004
|
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu)
|
rs745453660
|
0.00004
|
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His)
|
rs765087683
|
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.354G>A (p.Gln118=)
|
rs544163984
|
0.00004
|
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp)
|
rs758010588
|
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.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_016277.5(RAB23):c.670A>T (p.Thr224Ser)
|
rs748638791
|
0.00004
|
NM_020779.4(WDR35):c.1529G>A (p.Arg510His)
|
rs763031783
|
0.00004
|
NM_020779.4(WDR35):c.1637G>A (p.Arg546His)
|
rs529313875
|
0.00004
|
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val)
|
rs370956261
|
0.00004
|
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)
|
rs1281384371
|
0.00004
|
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser)
|
rs774898515
|
0.00004
|
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly)
|
rs370873468
|
0.00004
|
NM_020779.4(WDR35):c.742G>A (p.Val248Ile)
|
rs372968757
|
0.00004
|
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)
|
rs752601407
|
0.00004
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
NM_023110.3(FGFR1):c.742G>A (p.Val248Met)
|
rs186746130
|
0.00004
|
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)
|
rs781181264
|
0.00004
|
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn)
|
rs76007598
|
0.00004
|
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)
|
rs376549217
|
0.00004
|
NM_052989.3(IFT122):c.273-346C>T
|
rs778846137
|
0.00004
|
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)
|
rs553449191
|
0.00004
|
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val)
|
rs778888913
|
0.00004
|
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)
|
rs557159295
|
0.00004
|
NM_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe)
|
rs777645844
|
0.00004
|
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp)
|
rs762190195
|
0.00003
|
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys)
|
rs554274233
|
0.00003
|
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg)
|
rs754432292
|
0.00003
|
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu)
|
rs768036287
|
0.00003
|
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu)
|
rs757227265
|
0.00003
|
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp)
|
rs529688057
|
0.00003
|
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His)
|
rs771233244
|
0.00003
|
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His)
|
rs757739507
|
0.00003
|
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=)
|
rs773571688
|
0.00003
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1767+11C>T
|
rs202132957
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln)
|
rs766344677
|
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.127C>T (p.Arg43Trp)
|
rs761113605
|
0.00003
|
NM_004260.4(RECQL4):c.1295C>T (p.Pro432Leu)
|
rs368160954
|
0.00003
|
NM_004260.4(RECQL4):c.1415C>T (p.Ala472Val)
|
rs587778653
|
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.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.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.2054A>G (p.Asp685Gly)
|
rs985330329
|
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.2134G>A (p.Asp712Asn)
|
rs753254336
|
0.00003
|
NM_004260.4(RECQL4):c.2203C>T (p.Arg735Cys)
|
rs760748569
|
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.2275G>A (p.Ala759Thr)
|
rs1198791067
|
0.00003
|
NM_004260.4(RECQL4):c.2307_2309dup (p.Ala770dup)
|
rs748979321
|
0.00003
|
NM_004260.4(RECQL4):c.2506A>G (p.Ser836Gly)
|
rs776668549
|
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.2692A>G (p.Met898Val)
|
rs776189878
|
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.3163C>T (p.Leu1055Phe)
|
rs769823922
|
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.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.345C>T (p.Gly115=)
|
rs377027093
|
0.00003
|
NM_004260.4(RECQL4):c.3485G>A (p.Arg1162His)
|
rs747815189
|
0.00003
|
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu)
|
rs772265082
|
0.00003
|
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg)
|
rs776146178
|
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.391G>C (p.Gly131Arg)
|
rs561427528
|
0.00003
|
NM_004260.4(RECQL4):c.425C>T (p.Pro142Leu)
|
rs370312522
|
0.00003
|
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp)
|
rs775651175
|
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.701C>G (p.Ser234Cys)
|
rs746487281
|
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.886G>A (p.Glu296Lys)
|
rs1024635326
|
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_006494.4(ERF):c.1222G>A (p.Gly408Arg)
|
rs764764288
|
0.00003
|
NM_006494.4(ERF):c.1478G>A (p.Arg493His)
|
rs762382429
|
0.00003
|
NM_020779.4(WDR35):c.142+5A>G
|
rs762617889
|
0.00003
|
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)
|
rs549077153
|
0.00003
|
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile)
|
rs143397737
|
0.00003
|
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)
|
rs781365658
|
0.00003
|
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp)
|
rs374027943
|
0.00003
|
NM_020779.4(WDR35):c.2864G>A (p.Arg955His)
|
rs780666056
|
0.00003
|
NM_020779.4(WDR35):c.628A>G (p.Ile210Val)
|
rs1413290520
|
0.00003
|
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)
|
rs372654433
|
0.00003
|
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)
|
rs777345476
|
0.00003
|
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)
|
rs1301127877
|
0.00003
|
NM_023110.3(FGFR1):c.181G>A (p.Val61Met)
|
rs762089291
|
0.00003
|
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu)
|
rs149915993
|
0.00003
|
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser)
|
rs758194778
|
0.00003
|
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His)
|
rs143602964
|
0.00003
|
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln)
|
rs754808589
|
0.00003
|
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu)
|
rs751262275
|
0.00003
|
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys)
|
rs778449955
|
0.00003
|
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe)
|
rs1064796651
|
0.00002
|
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp)
|
rs769862975
|
0.00002
|
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu)
|
rs993849381
|
0.00002
|
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln)
|
rs1460568797
|
0.00002
|
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys)
|
rs760894078
|
0.00002
|
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)
|
rs747096596
|
0.00002
|
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val)
|
rs768713408
|
0.00002
|
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys)
|
rs777955709
|
0.00002
|
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys)
|
rs1205847294
|
0.00002
|
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)
|
rs758007485
|
0.00002
|
NM_001271938.2(MEGF8):c.739+3G>A
|
rs772336647
|
0.00002
|
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln)
|
rs754329335
|
0.00002
|
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln)
|
rs764185083
|
0.00002
|
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp)
|
rs768902189
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)
|
rs759663808
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
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.1124G>A (p.Arg375His)
|
rs398124115
|
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.134A>T (p.Tyr45Phe)
|
rs748521485
|
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.1637C>T (p.Pro546Leu)
|
rs377298374
|
0.00002
|
NM_004260.4(RECQL4):c.1659A>G (p.Ile553Met)
|
rs1034720495
|
0.00002
|
NM_004260.4(RECQL4):c.166G>A (p.Gly56Ser)
|
rs777837612
|
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.1867C>T (p.Arg623Cys)
|
rs772515188
|
0.00002
|
NM_004260.4(RECQL4):c.1914G>A (p.Leu638=)
|
rs754026048
|
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.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.2080G>C (p.Gly694Arg)
|
rs750118023
|
0.00002
|
NM_004260.4(RECQL4):c.2087G>A (p.Arg696His)
|
rs1026729951
|
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.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.2303T>C (p.Val768Ala)
|
rs370863264
|
0.00002
|
NM_004260.4(RECQL4):c.2350C>T (p.Arg784Trp)
|
rs753386714
|
0.00002
|
NM_004260.4(RECQL4):c.2404G>A (p.Val802Met)
|
rs897118164
|
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.2470G>C (p.Asp824His)
|
rs901313954
|
0.00002
|
NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr)
|
rs370432468
|
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.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.2791C>T (p.Pro931Ser)
|
rs768352855
|
0.00002
|
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser)
|
rs1359100897
|
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.2849C>G (p.Pro950Arg)
|
rs769664095
|
0.00002
|
NM_004260.4(RECQL4):c.2873C>T (p.Ala958Val)
|
rs758952928
|
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.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.3043G>A (p.Glu1015Lys)
|
rs771381171
|
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.3268G>A (p.Glu1090Lys)
|
rs756401653
|
0.00002
|
NM_004260.4(RECQL4):c.3271C>A (p.Gln1091Lys)
|
rs137853230
|
0.00002
|
NM_004260.4(RECQL4):c.3290G>A (p.Ser1097Asn)
|
rs1400903506
|
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.3428T>C (p.Ile1143Thr)
|
rs759478327
|
0.00002
|
NM_004260.4(RECQL4):c.3484C>T (p.Arg1162Cys)
|
rs773088003
|
0.00002
|
NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn)
|
rs758188100
|
0.00002
|
NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter)
|
rs748047415
|
0.00002
|
NM_004260.4(RECQL4):c.482A>G (p.Gln161Arg)
|
rs1449551392
|
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.785G>A (p.Arg262Gln)
|
rs781569277
|
0.00002
|
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn)
|
rs780327528
|
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_006494.4(ERF):c.1201A>G (p.Lys401Glu)
|
rs753010203
|
0.00002
|
NM_006494.4(ERF):c.208C>T (p.Arg70Cys)
|
rs756869919
|
0.00002
|
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys)
|
rs753014847
|
0.00002
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
NM_020779.4(WDR35):c.1798A>G (p.Met600Val)
|
rs751974091
|
0.00002
|
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp)
|
rs754056303
|
0.00002
|
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg)
|
rs771708013
|
0.00002
|
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys)
|
rs369793891
|
0.00002
|
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr)
|
rs1388421523
|
0.00002
|
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn)
|
rs190070503
|
0.00002
|
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg)
|
rs757871845
|
0.00002
|
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys)
|
rs1228498799
|
0.00002
|
NM_023110.3(FGFR1):c.193A>C (p.Asn65His)
|
rs768919123
|
0.00002
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)
|
rs1419947824
|
0.00002
|
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)
|
rs762665767
|
0.00002
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
NM_052989.3(IFT122):c.1577G>A (p.Arg526His)
|
rs754275024
|
0.00002
|
NM_052989.3(IFT122):c.2302G>A (p.Val768Met)
|
rs561825107
|
0.00002
|
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln)
|
rs758998922
|
0.00002
|
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly)
|
rs767833675
|
0.00002
|
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His)
|
rs753932809
|
0.00002
|
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu)
|
rs1269892119
|
0.00002
|
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly)
|
rs1048830398
|
0.00002
|
NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn)
|
rs2522202
|
0.00001
|
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser)
|
rs1310233431
|
0.00001
|
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val)
|
rs1230428800
|
0.00001
|
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala)
|
rs559821440
|
0.00001
|
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser)
|
rs971237623
|
0.00001
|
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys)
|
rs747026334
|
0.00001
|
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys)
|
rs761382753
|
0.00001
|
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln)
|
rs368683081
|
0.00001
|
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln)
|
rs775071124
|
0.00001
|
NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile)
|
rs1029623509
|
0.00001
|
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln)
|
rs758585947
|
0.00001
|
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp)
|
rs1374279391
|
0.00001
|
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys)
|
rs763111888
|
0.00001
|
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser)
|
rs977777127
|
0.00001
|
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp)
|
rs892173452
|
0.00001
|
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys)
|
rs377750684
|
0.00001
|
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp)
|
rs1229026252
|
0.00001
|
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His)
|
rs749669318
|
0.00001
|
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln)
|
rs372798483
|
0.00001
|
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys)
|
rs774288940
|
0.00001
|
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)
|
rs764246520
|
0.00001
|
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys)
|
rs771890594
|
0.00001
|
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn)
|
rs747286989
|
0.00001
|
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu)
|
rs766493787
|
0.00001
|
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala)
|
rs779853780
|
0.00001
|
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)
|
rs772768716
|
0.00001
|
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys)
|
rs1438199181
|
0.00001
|
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp)
|
rs769584545
|
0.00001
|
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val)
|
rs773102301
|
0.00001
|
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu)
|
rs749183655
|
0.00001
|
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile)
|
rs375853163
|
0.00001
|
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=)
|
rs1461151357
|
0.00001
|
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser)
|
rs779537526
|
0.00001
|
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val)
|
rs975858414
|
0.00001
|
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)
|
rs753588973
|
0.00001
|
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys)
|
rs1298003744
|
0.00001
|
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly)
|
rs535520607
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)
|
rs1057518494
|
0.00001
|
NM_003036.4(SKI):c.1474+4C>T
|
rs780930093
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1548G>A (p.Pro516=)
|
rs1239990628
|
0.00001
|
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro)
|
rs1161295504
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.173C>G (p.Ala58Gly)
|
rs1638564960
|
0.00001
|
NM_003036.4(SKI):c.1767+6C>T
|
rs780191562
|
0.00001
|
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)
|
rs761706108
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr)
|
rs1254335229
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys)
|
rs1341756519
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.340G>A (p.Val114Met)
|
rs1165144413
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.45G>A (p.Pro15=)
|
rs762947696
|
0.00001
|
NM_003036.4(SKI):c.461C>T (p.Thr154Met)
|
rs1275592565
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.495C>T (p.Gly165=)
|
rs749438586
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.795G>C (p.Lys265Asn)
|
rs1457407953
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.923A>G (p.Lys308Arg)
|
rs1276404635
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.942C>T (p.Gly314=)
|
rs1245622958
|
0.00001
|
NM_003036.4(SKI):c.974C>T (p.Ser325Phe)
|
rs779414606
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
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.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.1045G>A (p.Asp349Asn)
|
rs1045634487
|
0.00001
|
NM_004260.4(RECQL4):c.1046A>G (p.Asp349Gly)
|
rs566907631
|
0.00001
|
NM_004260.4(RECQL4):c.1055A>G (p.Asn352Ser)
|
rs761136493
|
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.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.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.1131G>A (p.Gln377=)
|
rs911864123
|
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.1187C>T (p.Thr396Ile)
|
rs752564961
|
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.1214T>C (p.Leu405Pro)
|
rs747571431
|
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.1258+3G>A
|
rs748155891
|
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.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.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.1387G>A (p.Ala463Thr)
|
rs776602501
|
0.00001
|
NM_004260.4(RECQL4):c.1390+6C>A
|
rs770762372
|
0.00001
|
NM_004260.4(RECQL4):c.1391-3C>T
|
rs772931084
|
0.00001
|
NM_004260.4(RECQL4):c.1412A>G (p.Gln471Arg)
|
rs1162234134
|
0.00001
|
NM_004260.4(RECQL4):c.1432C>T (p.His478Tyr)
|
rs750354218
|
0.00001
|
NM_004260.4(RECQL4):c.1462G>A (p.Ala488Thr)
|
rs925075047
|
0.00001
|
NM_004260.4(RECQL4):c.1483+6C>T
|
rs376137809
|
0.00001
|
NM_004260.4(RECQL4):c.1487T>C (p.Ile496Thr)
|
rs772318434
|
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.1521C>T (p.Gly507=)
|
rs763993982
|
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.1562G>A (p.Arg521Gln)
|
rs747019774
|
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.1592C>T (p.Ser531Phe)
|
rs774637277
|
0.00001
|
NM_004260.4(RECQL4):c.1598T>A (p.Leu533Gln)
|
rs986491410
|
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.1652C>T (p.Ala551Val)
|
rs587778643
|
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.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+3G>C
|
rs1210896009
|
0.00001
|
NM_004260.4(RECQL4):c.1704G>A (p.Lys568=)
|
rs878854642
|
0.00001
|
NM_004260.4(RECQL4):c.1709G>A (p.Arg570Gln)
|
rs755865911
|
0.00001
|
NM_004260.4(RECQL4):c.1741C>A (p.Pro581Thr)
|
rs776147492
|
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.1762G>A (p.Gly588Arg)
|
rs1476505217
|
0.00001
|
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val)
|
rs1259051495
|
0.00001
|
NM_004260.4(RECQL4):c.1774C>T (p.Pro592Ser)
|
rs1235051312
|
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.179G>A (p.Arg60His)
|
rs1060501374
|
0.00001
|
NM_004260.4(RECQL4):c.1805C>T (p.Ala602Val)
|
rs773424120
|
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.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.1858T>G (p.Cys620Gly)
|
rs762061985
|
0.00001
|
NM_004260.4(RECQL4):c.1859G>A (p.Cys620Tyr)
|
rs1481613413
|
0.00001
|
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr)
|
rs747827741
|
0.00001
|
NM_004260.4(RECQL4):c.1878G>A (p.Lys626=)
|
rs1433507669
|
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.1903C>T (p.His635Tyr)
|
rs758743745
|
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.1937G>A (p.Arg646His)
|
rs762767243
|
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.1970C>T (p.Ala657Val)
|
rs1279119304
|
0.00001
|
NM_004260.4(RECQL4):c.1976C>G (p.Ala659Gly)
|
rs1336325647
|
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.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.2025C>G (p.His675Gln)
|
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.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+4G>T
|
rs369280644
|
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.2101G>A (p.Asp701Asn)
|
rs1182814326
|
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+4C>T
|
rs768769944
|
0.00001
|
NM_004260.4(RECQL4):c.2141A>G (p.Glu714Gly)
|
rs766703250
|
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.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.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.2283G>A (p.Met761Ile)
|
rs1291088541
|
0.00001
|
NM_004260.4(RECQL4):c.2288G>A (p.Gly763Asp)
|
rs1164917814
|
0.00001
|
NM_004260.4(RECQL4):c.2308G>A (p.Ala770Thr)
|
rs759107465
|
0.00001
|
NM_004260.4(RECQL4):c.2312C>T (p.Thr771Met)
|
rs770327474
|
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.2335G>A (p.Asp779Asn)
|
rs780228802
|
0.00001
|
NM_004260.4(RECQL4):c.2347G>A (p.Val783Met)
|
rs1483530082
|
0.00001
|
NM_004260.4(RECQL4):c.2375C>T (p.Pro792Leu)
|
rs1471609431
|
0.00001
|
NM_004260.4(RECQL4):c.23G>C (p.Arg8Pro)
|
rs896245546
|
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.2463G>A (p.Gln821=)
|
rs1447984125
|
0.00001
|
NM_004260.4(RECQL4):c.2468_2476del (p.Glu823_Arg826delinsGly)
|
rs1827568539
|
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.2513A>C (p.Asp838Ala)
|
rs1317677692
|
0.00001
|
NM_004260.4(RECQL4):c.2524G>A (p.Val842Met)
|
rs1292755928
|
0.00001
|
NM_004260.4(RECQL4):c.2531G>A (p.Arg844Lys)
|
rs780474951
|
0.00001
|
NM_004260.4(RECQL4):c.2540A>G (p.Gln847Arg)
|
rs1320033045
|
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.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.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.2632C>T (p.Pro878Ser)
|
rs375036010
|
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.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.2686G>C (p.Val896Leu)
|
rs762644049
|
0.00001
|
NM_004260.4(RECQL4):c.2690G>T (p.Cys897Phe)
|
rs1393217982
|
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.2713C>A (p.Pro905Thr)
|
rs778939539
|
0.00001
|
NM_004260.4(RECQL4):c.2732A>G (p.Gln911Arg)
|
rs770437224
|
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.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>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.2830C>T (p.His944Tyr)
|
rs527454830
|
0.00001
|
NM_004260.4(RECQL4):c.2831A>C (p.His944Pro)
|
rs759772792
|
0.00001
|
NM_004260.4(RECQL4):c.2848C>T (p.Pro950Ser)
|
rs775475361
|
0.00001
|
NM_004260.4(RECQL4):c.2879C>T (p.Ala960Val)
|
rs373651108
|
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.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.2932C>T (p.Pro978Ser)
|
rs770014424
|
0.00001
|
NM_004260.4(RECQL4):c.2968G>A (p.Val990Ile)
|
rs151223648
|
0.00001
|
NM_004260.4(RECQL4):c.2986A>G (p.Met996Val)
|
rs781661324
|
0.00001
|
NM_004260.4(RECQL4):c.2999T>C (p.Leu1000Pro)
|
rs778030723
|
0.00001
|
NM_004260.4(RECQL4):c.3002C>T (p.Ala1001Val)
|
rs918047641
|
0.00001
|
NM_004260.4(RECQL4):c.3019C>T (p.Leu1007Phe)
|
rs1342565479
|
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.3056-5G>A
|
rs774320251
|
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.3113G>A (p.Arg1038His)
|
rs374254271
|
0.00001
|
NM_004260.4(RECQL4):c.3131C>T (p.Thr1044Ile)
|
rs778762414
|
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.319C>A (p.Gln107Lys)
|
rs1026197269
|
0.00001
|
NM_004260.4(RECQL4):c.3203C>A (p.Ala1068Asp)
|
rs751964578
|
0.00001
|
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)
|
rs752847936
|
0.00001
|
NM_004260.4(RECQL4):c.3227C>T (p.Ala1076Val)
|
rs1489682094
|
0.00001
|
NM_004260.4(RECQL4):c.3236+4G>A
|
rs575764344
|
0.00001
|
NM_004260.4(RECQL4):c.3237C>T (p.Ser1079=)
|
rs770553956
|
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.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.3319T>C (p.Tyr1107His)
|
rs757342740
|
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.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.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+5G>A
|
rs1214839248
|
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.3497G>A (p.Gly1166Asp)
|
rs1416975304
|
0.00001
|
NM_004260.4(RECQL4):c.3502+1G>C
|
rs757563486
|
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.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.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.3565C>T (p.His1189Tyr)
|
rs745930478
|
0.00001
|
NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro)
|
rs752487649
|
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.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.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.424C>T (p.Pro142Ser)
|
rs781248589
|
0.00001
|
NM_004260.4(RECQL4):c.427C>G (p.Pro143Ala)
|
rs1023001689
|
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.52T>C (p.Phe18Leu)
|
rs941281893
|
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.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.607G>A (p.Gly203Arg)
|
rs1336852149
|
0.00001
|
NM_004260.4(RECQL4):c.611C>T (p.Ala204Val)
|
rs757780731
|
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.664C>T (p.Pro222Ser)
|
rs758876038
|
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.725T>G (p.Phe242Cys)
|
rs780215594
|
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.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.795C>G (p.Asn265Lys)
|
rs564678543
|
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.832G>A (p.Glu278Lys)
|
rs749625708
|
0.00001
|
NM_004260.4(RECQL4):c.839G>A (p.Ser280Asn)
|
rs1452098347
|
0.00001
|
NM_004260.4(RECQL4):c.85-3C>G
|
rs1053090518
|
0.00001
|
NM_004260.4(RECQL4):c.85-6T>A
|
rs1815408102
|
0.00001
|
NM_004260.4(RECQL4):c.851C>T (p.Pro284Leu)
|
rs972715381
|
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.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.898G>T (p.Gly300Trp)
|
rs764510816
|
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.914C>T (p.Ala305Val)
|
rs578139890
|
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.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_016277.5(RAB23):c.244G>C (p.Ala82Pro)
|
rs766250966
|
0.00001
|
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met)
|
rs200341288
|
0.00001
|
NM_020779.4(WDR35):c.10T>C (p.Tyr4His)
|
rs772365561
|
0.00001
|
NM_020779.4(WDR35):c.1104A>G (p.Lys368=)
|
rs745634789
|
0.00001
|
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr)
|
rs780584500
|
0.00001
|
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala)
|
rs1371644144
|
0.00001
|
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val)
|
rs1671332812
|
0.00001
|
NM_020779.4(WDR35):c.1470+6T>C
|
rs1162916086
|
0.00001
|
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val)
|
rs398123536
|
0.00001
|
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)
|
rs139252416
|
0.00001
|
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)
|
rs758919526
|
0.00001
|
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln)
|
rs750367225
|
0.00001
|
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser)
|
rs777217654
|
0.00001
|
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)
|
rs199849430
|
0.00001
|
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala)
|
rs370706293
|
0.00001
|
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp)
|
rs149815363
|
0.00001
|
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln)
|
rs754997630
|
0.00001
|
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr)
|
rs776936691
|
0.00001
|
NM_020779.4(WDR35):c.308G>T (p.Gly103Val)
|
rs886055406
|
0.00001
|
NM_020779.4(WDR35):c.3122-3T>C
|
rs751769266
|
0.00001
|
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr)
|
rs759338583
|
0.00001
|
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)
|
rs978909925
|
0.00001
|
NM_020779.4(WDR35):c.485T>C (p.Val162Ala)
|
rs754439440
|
0.00001
|
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu)
|
rs1410550467
|
0.00001
|
NM_020779.4(WDR35):c.722A>G (p.His241Arg)
|
rs138366348
|
0.00001
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)
|
rs982371464
|
0.00001
|
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)
|
rs1324436328
|
0.00001
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)
|
rs767419329
|
0.00001
|
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)
|
rs199499923
|
0.00001
|
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr)
|
rs749758370
|
0.00001
|
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)
|
rs778531708
|
0.00001
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)
|
rs903239767
|
0.00001
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)
|
rs755002934
|
0.00001
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)
|
rs527606454
|
0.00001
|
NM_023110.3(FGFR1):c.2292+6G>T
|
rs905873179
|
0.00001
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)
|
rs1815142188
|
0.00001
|
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)
|
rs17182456
|
0.00001
|
NM_023110.3(FGFR1):c.274G>A (p.Val92Met)
|
rs755828990
|
0.00001
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)
|
rs121913473
|
0.00001
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)
|
rs764533580
|
0.00001
|
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)
|
rs746094709
|
0.00001
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
NM_023110.3(FGFR1):c.621+4C>T
|
rs750639887
|
0.00001
|
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)
|
rs763771933
|
0.00001
|
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)
|
rs143341876
|
0.00001
|
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)
|
rs1230569367
|
0.00001
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
NM_023110.3(FGFR1):c.91+6G>T
|
rs886062921
|
0.00001
|
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu)
|
rs769712676
|
0.00001
|
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn)
|
rs768644199
|
0.00001
|
NM_052989.3(IFT122):c.1067A>C (p.His356Pro)
|
rs1064796598
|
0.00001
|
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys)
|
rs965712410
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg)
|
rs1203426032
|
0.00001
|
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)
|
rs774723842
|
0.00001
|
NM_052989.3(IFT122):c.1851+5C>T
|
rs375595062
|
0.00001
|
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)
|
rs140911243
|
0.00001
|
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn)
|
rs1012943423
|
0.00001
|
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr)
|
rs199856807
|
0.00001
|
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala)
|
rs565504126
|
0.00001
|
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His)
|
rs1298243007
|
0.00001
|
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys)
|
rs750010740
|
0.00001
|
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys)
|
rs765190529
|
0.00001
|
NM_052989.3(IFT122):c.2887-3C>T
|
rs773452716
|
0.00001
|
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser)
|
rs767491295
|
0.00001
|
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)
|
rs774343448
|
0.00001
|
NM_052989.3(IFT122):c.349+4C>T
|
rs753626217
|
0.00001
|
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser)
|
rs1278478989
|
0.00001
|
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys)
|
rs373212863
|
0.00001
|
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr)
|
rs773531126
|
0.00001
|
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys)
|
rs775510906
|
0.00001
|
NC_000001.10:g.(?_2160186)_(2238224_?)dup
|
|
|
NC_000001.10:g.(?_2234397)_(2238204_?)dup
|
|
|
NC_000001.10:g.(?_955543)_(2957600_?)del
|
|
|
NC_000003.11:g.(?_129150344)_(129159234_?)dup
|
|
|
NC_000003.11:g.(?_129150344)_(129252561_?)dup
|
|
|
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)_(145743174_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145739106_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145742902_?)dup
|
|
|
NC_000008.10:g.(?_145736814)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145737517)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145742424)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145742976)_(145743168_?)dup
|
|
|
NC_000008.10:g.(?_145742976)_(145743178_?)dup
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)dup
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
|
|
|
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
|
|
|
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)
|
rs1788590971
|
|
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
|
|
|
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)
|
rs1051003265
|
|
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
|
|
|
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
|
|
|
NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)
|
rs754552080
|
|
NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
|
|
|
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)
|
rs750238627
|
|
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
|
rs1554442039
|
|
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)
|
rs772470139
|
|
NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
|
|
|
NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
|
|
|
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
|
|
|
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
|
|
|
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
|
rs1585617188
|
|
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)
|
rs1554442021
|
|
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
|
|
|
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro)
|
rs1788582586
|
|
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro)
|
rs1554442008
|
|
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
|
|
|
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
|
|
|
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)
|
rs1554441992
|
|
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met)
|
rs757121861
|
|
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)
|
rs1585616989
|
|
NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)
|
|
|
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)
|
rs1788580225
|
|
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)
|
rs1788580225
|
|
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)
|
rs1554441982
|
|
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)
|
rs1585616825
|
|
NM_000474.4(TWIST1):c.484del (p.Val162fs)
|
rs1788579060
|
|
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)
|
rs867957820
|
|
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
|
|
|
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
|
|
|
NM_000474.4(TWIST1):c.510dup (p.Lys171fs)
|
rs2115396517
|
|
NM_000474.4(TWIST1):c.530_537dup (p.His180fs)
|
rs2115396467
|
|
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)
|
rs1554441944
|
|
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
|
|
|
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
|
|
|
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
|
|
|
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
|
|
|
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
|
|
|
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
|
|
|
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
|
|
|
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
|
|
|
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
|
|
|
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
|
|
|
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
|
|
|
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
|
|
|
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
|
|
|
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
|
|
|
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val)
|
rs764773192
|
|
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
|
|
|
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
|
|
|
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
|
|
|
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
|
|
|
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe)
|
rs1555781030
|
|
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
|
|
|
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala)
|
rs2039264644
|
|
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
|
|
|
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
|
|
|
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
|
|
|
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser)
|
rs2147472784
|
|
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
|
|
|
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu)
|
rs2039350288
|
|
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)
|
rs777017134
|
|
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
|
|
|
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
|
|
|
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
|
|
|
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
|
|
|
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val)
|
rs2039399285
|
|
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
|
|
|
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
|
|
|
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met)
|
rs770399527
|
|
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
|
|
|
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
|
|
|
NM_001271938.2(MEGF8):c.4144+4C>T
|
|
|
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe)
|
rs1568568653
|
|
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
|
|
|
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
|
|
|
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu)
|
rs765654107
|
|
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
|
|
|
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His)
|
rs541874206
|
|
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
|
|
|
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg)
|
rs1285619780
|
|
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly)
|
rs1050352479
|
|
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
|
|
|
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
|
rs770879154
|
|
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
|
|
|
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
|
|
|
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile)
|
rs761809949
|
|
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
|
|
|
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
|
|
|
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe)
|
rs1201933643
|
|
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
|
|
|
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
|
|
|
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
|
|
|
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
|
|
|
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr)
|
rs2147493826
|
|
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr)
|
rs1409781298
|
|
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
|
|
|
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)
|
rs201881006
|
|
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=)
|
rs536661123
|
|
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
|
|
|
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
|
|
|
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr)
|
rs2147497843
|
|
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
|
|
|
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
|
|
|
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His)
|
rs1399203080
|
|
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly)
|
rs2147506322
|
|
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
|
|
|
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys)
|
rs760913754
|
|
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
|
|
|
NM_001271938.2(MEGF8):c.6641+14C>T
|
|
|
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
|
|
|
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
|
|
|
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
|
|
|
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
|
|
|
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu)
|
rs142506261
|
|
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
|
|
|
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
|
|
|
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
|
|
|
NM_001271938.2(MEGF8):c.7269+19G>A
|
|
|
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser)
|
rs2039754626
|
|
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys)
|
rs769273382
|
|
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
|
|
|
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)
|
rs773064133
|
|
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
|
|
|
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
|
|
|
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
|
|
|
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu)
|
rs2147519774
|
|
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
|
|
|
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met)
|
rs140517402
|
|
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu)
|
rs377001753
|
|
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
|
|
|
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
|
|
|
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp)
|
rs1555785144
|
|
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser)
|
rs548176972
|
|
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
|
|
|
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
|
|
|
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg)
|
rs2147521006
|
|
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
|
|
|
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
|
|
|
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)
|
rs557788926
|
|
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
|
|
|
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
|
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln)
|
rs1640467596
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1095+5T>C
|
rs2100916508
|
|
NM_003036.4(SKI):c.1095+6G>A
|
|
|
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
|
|
|
NM_003036.4(SKI):c.1096-15A>G
|
|
|
NM_003036.4(SKI):c.1096-6C>G
|
|
|
NM_003036.4(SKI):c.1096-8C>G
|
|
|
NM_003036.4(SKI):c.10G>C (p.Ala4Pro)
|
rs1638560343
|
|
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
|
|
|
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly)
|
rs749507746
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
|
|
|
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)
|
rs1242691039
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
|
|
|
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe)
|
rs371268096
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
|
|
|
NM_003036.4(SKI):c.1211+2T>G
|
|
|
NM_003036.4(SKI):c.1212-3C>T
|
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.123C>G (p.Arg41=)
|
rs1233566903
|
|
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
|
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
|
|
|
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu)
|
rs748787050
|
|
NM_003036.4(SKI):c.1298del (p.Pro433fs)
|
|
|
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr)
|
rs1247637685
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)
|
rs2100918643
|
|
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr)
|
rs1417738788
|
|
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp)
|
rs1640495570
|
|
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
|
|
|
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
|
|
|
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu)
|
rs1640496768
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
|
|
|
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
|
|
|
NM_003036.4(SKI):c.1411G>A (p.Val471Met)
|
rs745717087
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
|
|
|
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
|
|
|
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
|
|
|
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
|
|
|
NM_003036.4(SKI):c.1485_1487del (p.Leu496del)
|
rs1640510054
|
|
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
|
|
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
|
rs376322470
|
|
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser)
|
rs774937962
|
|
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
|
|
|
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
|
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
|
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
|
|
|
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
|
|
|
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
|
|
|
NM_003036.4(SKI):c.163G>A (p.Ala55Thr)
|
rs769506718
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
|
|
|
NM_003036.4(SKI):c.1690C>G (p.His564Asp)
|
rs1640518223
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
|
|
|
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr)
|
rs1640519904
|
|
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
|
rs1569862379
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1767+1G>C
|
|
|
NM_003036.4(SKI):c.1768-3C>T
|
|
|
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
|
rs1569865485
|
|
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del)
|
rs1640564388
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
|
|
|
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp)
|
rs1640565489
|
|
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys)
|
rs863223727
|
|
NM_003036.4(SKI):c.182C>T (p.Pro61Leu)
|
rs1557806444
|
|
NM_003036.4(SKI):c.1848C>G (p.Ile616Met)
|
rs1044806468
|
|
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1879A>G (p.Met627Val)
|
rs2100924200
|
|
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
|
|
|
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
|
|
|
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys)
|
rs1640570925
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
|
|
|
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
|
|
|
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
|
|
|
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
|
|
|
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
|
rs1212316098
|
|
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
|
|
|
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
|
rs1569866460
|
|
NM_003036.4(SKI):c.1998+1G>T
|
|
|
NM_003036.4(SKI):c.1998+6C>T
|
rs1265118842
|
|
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
|
|
|
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
|
|
|
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg)
|
rs1060502673
|
|
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
|
|
|
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
|
|
|
NM_003036.4(SKI):c.2028C>G (p.His676Gln)
|
rs1203179478
|
|
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
|
|
|
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
|
|
|
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
|
|
|
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
|
|
|
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
|
|
|
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
|
|
|
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
|
|
|
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp)
|
rs1347331671
|
|
NM_003036.4(SKI):c.2092C>G (p.Leu698Val)
|
rs766929334
|
|
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly)
|
rs1553201549
|
|
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly)
|
rs2100926034
|
|
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
|
|
|
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)
|
rs1640595714
|
|
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys)
|
rs1640595885
|
|
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
|
|
|
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=)
|
rs1557854927
|
|
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)
|
rs863223721
|
|
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=)
|
rs1308786369
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln)
|
rs1640597058
|
|
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
|
|
|
NM_003036.4(SKI):c.217G>A (p.Val73Met)
|
|
|
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
|
|
|
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
|
|
|
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)
|
rs1640597997
|
|
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
|
|
|
NM_003036.4(SKI):c.229C>T (p.Pro77Ser)
|
rs1370601989
|
|
NM_003036.4(SKI):c.22C>G (p.Arg8Gly)
|
rs1254990952
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
|
rs778291636
|
|
NM_003036.4(SKI):c.248C>T (p.Pro83Leu)
|
rs1060502672
|
|
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
|
|
|
NM_003036.4(SKI):c.271T>G (p.Phe91Val)
|
rs1638570021
|
|
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
|
|
|
NM_003036.4(SKI):c.278C>T (p.Pro93Leu)
|
rs749071609
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
|
rs1569658411
|
|
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
|
|
|
NM_003036.4(SKI):c.36G>C (p.Gln12His)
|
|
|
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
|
|
|
NM_003036.4(SKI):c.414G>T (p.Gln138His)
|
|
|
NM_003036.4(SKI):c.419A>C (p.Asn140Thr)
|
rs2100790187
|
|
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
|
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
|
|
|
NM_003036.4(SKI):c.459C>T (p.Cys153=)
|
rs1638575263
|
|
NM_003036.4(SKI):c.463G>T (p.Ala155Ser)
|
rs867726673
|
|
NM_003036.4(SKI):c.471G>C (p.Gln157His)
|
|
|
NM_003036.4(SKI):c.487G>A (p.Val163Ile)
|
rs878854599
|
|
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
|
rs1569658999
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys)
|
rs758199656
|
|
NM_003036.4(SKI):c.574G>A (p.Gly192Ser)
|
rs1638578159
|
|
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys)
|
rs1474048036
|
|
NM_003036.4(SKI):c.587C>T (p.Pro196Leu)
|
rs1638578545
|
|
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
|
|
|
NM_003036.4(SKI):c.602A>G (p.Lys201Arg)
|
rs2100790534
|
|
NM_003036.4(SKI):c.613G>A (p.Ala205Thr)
|
rs2100790567
|
|
NM_003036.4(SKI):c.622G>C (p.Ala208Pro)
|
rs761138564
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
|
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.655C>T (p.Arg219Cys)
|
rs1226163559
|
|
NM_003036.4(SKI):c.687G>C (p.Lys229Asn)
|
rs750391739
|
|
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup)
|
rs1638560188
|
|
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
|
|
|
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
|
|
|
NM_003036.4(SKI):c.723C>G (p.Ser241Arg)
|
rs2100790799
|
|
NM_003036.4(SKI):c.757A>T (p.Met253Leu)
|
rs767352419
|
|
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
|
|
|
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
|
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
|
rs1569656949
|
|
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
|
|
|
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.853A>T (p.Ile285Phe)
|
rs2100791027
|
|
NM_003036.4(SKI):c.863G>T (p.Ser288Ile)
|
rs2100791046
|
|
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)
|
rs1638585706
|
|
NM_003036.4(SKI):c.879C>T (p.Gly293=)
|
rs543890429
|
|
NM_003036.4(SKI):c.896G>C (p.Arg299Pro)
|
rs1482824984
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
|
rs1553189801
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
|
|
|
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
|
|
|
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
|
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969G>C (p.Arg323=)
|
rs747642639
|
|
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_004260.3(RECQL4):c.600_602inv (p.Asp200_Phe201delinsGluAsn)
|
|
|
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>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.1006A>C (p.Thr336Pro)
|
rs2130718095
|
|
NM_004260.4(RECQL4):c.1009G>T (p.Ala337Ser)
|
rs1171953080
|
|
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.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.1015C>G (p.Leu339Val)
|
|
|
NM_004260.4(RECQL4):c.1016T>C (p.Leu339Pro)
|
rs1554902362
|
|
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.1031G>C (p.Arg344Pro)
|
rs745874353
|
|
NM_004260.4(RECQL4):c.1031G>T (p.Arg344Leu)
|
rs745874353
|
|
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.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.104C>G (p.Pro35Arg)
|
|
|
NM_004260.4(RECQL4):c.1050G>C (p.Arg350Ser)
|
|
|
NM_004260.4(RECQL4):c.1051G>A (p.Gly351Ser)
|
|
|
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>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.1067T>C (p.Leu356Pro)
|
|
|
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>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.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.1093C>G (p.Arg365Gly)
|
|
|
NM_004260.4(RECQL4):c.1093C>T (p.Arg365Trp)
|
rs1220847881
|
|
NM_004260.4(RECQL4):c.1096G>T (p.Gly366Cys)
|
rs763114749
|
|
NM_004260.4(RECQL4):c.1099C>G (p.Arg367Gly)
|
rs531175632
|
|
NM_004260.4(RECQL4):c.1100G>T (p.Arg367Leu)
|
rs766344677
|
|
NM_004260.4(RECQL4):c.1101G>A (p.Arg367=)
|
|
|
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.1111A>G (p.Ser371Gly)
|
|
|
NM_004260.4(RECQL4):c.1116G>T (p.Arg372Ser)
|
rs779492418
|
|
NM_004260.4(RECQL4):c.1120C>T (p.Leu374Phe)
|
rs2130715472
|
|
NM_004260.4(RECQL4):c.1124G>T (p.Arg375Leu)
|
|
|
NM_004260.4(RECQL4):c.1125C>T (p.Arg375=)
|
rs560231629
|
|
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+17C>T
|
rs2130714925
|
|
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.1131G>C (p.Gln377His)
|
rs911864123
|
|
NM_004260.4(RECQL4):c.1132-11G>C
|
|
|
NM_004260.4(RECQL4):c.1132-13G>A
|
|
|
NM_004260.4(RECQL4):c.1132-3C>G
|
rs1586819954
|
|
NM_004260.4(RECQL4):c.1132-6C>T
|
rs2130713970
|
|
NM_004260.4(RECQL4):c.1132-8C>G
|
|
|
NM_004260.4(RECQL4):c.1132G>A (p.Ala378Thr)
|
|
|
NM_004260.4(RECQL4):c.1135T>C (p.Trp379Arg)
|
|
|
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>C (p.Lys382Asn)
|
rs759321310
|
|
NM_004260.4(RECQL4):c.1147T>C (p.Trp383Arg)
|
rs1828094038
|
|
NM_004260.4(RECQL4):c.1151G>T (p.Arg384Leu)
|
rs376045624
|
|
NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg)
|
rs2130713589
|
|
NM_004260.4(RECQL4):c.115C>A (p.Arg39Ser)
|
rs1815399959
|
|
NM_004260.4(RECQL4):c.1160G>A (p.Gly387Glu)
|
|
|
NM_004260.4(RECQL4):c.1166G>A (p.Cys389Tyr)
|
rs1828090979
|
|
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+13_118+14insGCGGCTGG
|
|
|
NM_004260.4(RECQL4):c.118+16G>A
|
|
|
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.1180G>A (p.Gly394Ser)
|
rs1828087724
|
|
NM_004260.4(RECQL4):c.1181G>T (p.Gly394Val)
|
rs1167568999
|
|
NM_004260.4(RECQL4):c.1182T>C (p.Gly394=)
|
|
|
NM_004260.4(RECQL4):c.1184C>G (p.Ala395Gly)
|
rs758299060
|
|
NM_004260.4(RECQL4):c.1186A>G (p.Thr396Ala)
|
rs2130713097
|
|
NM_004260.4(RECQL4):c.1189G>A (p.Val397Ile)
|
rs867681178
|
|
NM_004260.4(RECQL4):c.118G>A (p.Ala40Thr)
|
|
|
NM_004260.4(RECQL4):c.119-20C>A
|
|
|
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.1204T>A (p.Ser402Thr)
|
rs2130712812
|
|
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.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.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.1234T>C (p.Trp412Arg)
|
rs377546182
|
|
NM_004260.4(RECQL4):c.1238C>A (p.Ala413Glu)
|
|
|
NM_004260.4(RECQL4):c.1241C>T (p.Ala414Val)
|
|
|
NM_004260.4(RECQL4):c.1244A>C (p.Gln415Pro)
|
rs1478973162
|
|
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.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.1257A>G (p.Pro419=)
|
rs2130711922
|
|
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.1258G>C (p.Ala420Pro)
|
rs2130711913
|
|
NM_004260.4(RECQL4):c.1259-10C>T
|
|
|
NM_004260.4(RECQL4):c.1262G>A (p.Ser421Asn)
|
rs777333651
|
|
NM_004260.4(RECQL4):c.1263T>G (p.Ser421Arg)
|
|
|
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.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.1274C>G (p.Thr425Arg)
|
rs1266028485
|
|
NM_004260.4(RECQL4):c.1274C>T (p.Thr425Ile)
|
|
|
NM_004260.4(RECQL4):c.1276G>A (p.Asp426Asn)
|
rs1048010208
|
|
NM_004260.4(RECQL4):c.1280C>A (p.Ala427Asp)
|
rs2130708802
|
|
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>G (p.Pro430=)
|
|
|
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)
|
rs1828015944
|
|
NM_004260.4(RECQL4):c.1298T>G (p.Leu433Arg)
|
|
|
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.1306T>C (p.Ser436Pro)
|
rs1564803061
|
|
NM_004260.4(RECQL4):c.1307C>T (p.Ser436Leu)
|
rs2130708487
|
|
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.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.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.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.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.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.1364C>T (p.Ser455Phe)
|
rs1586817192
|
|
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.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.1379G>A (p.Gly460Glu)
|
rs764224012
|
|
NM_004260.4(RECQL4):c.1390+12_1390+13delinsAA
|
|
|
NM_004260.4(RECQL4):c.1390+19G>T
|
|
|
NM_004260.4(RECQL4):c.1390+20C>G
|
|
|
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.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.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.1414_1415delinsTT (p.Ala472Phe)
|
rs1827984088
|
|
NM_004260.4(RECQL4):c.1415C>A (p.Ala472Asp)
|
rs587778653
|
|
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)
|
rs587778654
|
|
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>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.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.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.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.1463C>T (p.Ala488Val)
|
rs2130705655
|
|
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.147G>C (p.Lys49Asn)
|
rs1815360727
|
|
NM_004260.4(RECQL4):c.1481C>T (p.Ser494Phe)
|
|
|
NM_004260.4(RECQL4):c.1483+15C>A
|
|
|
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.1483G>C (p.Gly495Arg)
|
|
|
NM_004260.4(RECQL4):c.1484-8C>A
|
rs1235697567
|
|
NM_004260.4(RECQL4):c.1486A>T (p.Ile496Phe)
|
rs2130704497
|
|
NM_004260.4(RECQL4):c.1487T>G (p.Ile496Ser)
|
|
|
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.1492A>G (p.Thr498Ala)
|
|
|
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.1507C>G (p.Pro503Ala)
|
rs2130704218
|
|
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.1520G>A (p.Gly507Asp)
|
|
|
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.1531T>G (p.Cys511Gly)
|
rs1226284707
|
|
NM_004260.4(RECQL4):c.1535A>G (p.Tyr512Cys)
|
rs2130703806
|
|
NM_004260.4(RECQL4):c.1539G>C (p.Gln513His)
|
rs1358624560
|
|
NM_004260.4(RECQL4):c.1539G>T (p.Gln513His)
|
|
|
NM_004260.4(RECQL4):c.1544C>G (p.Pro515Arg)
|
rs1260540483
|
|
NM_004260.4(RECQL4):c.1547C>G (p.Ala516Gly)
|
|
|
NM_004260.4(RECQL4):c.1547C>T (p.Ala516Val)
|
rs762113412
|
|
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.1562G>C (p.Arg521Pro)
|
|
|
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.1570C>A (p.Pro524Thr)
|
|
|
NM_004260.4(RECQL4):c.1573T>G (p.Cys525Gly)
|
|
|
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.157G>A (p.Gly53Ser)
|
rs1171989536
|
|
NM_004260.4(RECQL4):c.1580C>T (p.Thr527Met)
|
rs766354337
|
|
NM_004260.4(RECQL4):c.1584G>C (p.Leu528Phe)
|
|
|
NM_004260.4(RECQL4):c.1585GTC[3] (p.Val530dup)
|
rs778439963
|
|
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.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.1601T>C (p.Leu534Pro)
|
rs1309254569
|
|
NM_004260.4(RECQL4):c.1603T>C (p.Ser535Pro)
|
rs777773509
|
|
NM_004260.4(RECQL4):c.1610T>C (p.Met537Thr)
|
|
|
NM_004260.4(RECQL4):c.1614T>G (p.Asp538Glu)
|
rs563786469
|
|
NM_004260.4(RECQL4):c.1615G>C (p.Asp539His)
|
rs1219418730
|
|
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+15C>A
|
rs762377220
|
|
NM_004260.4(RECQL4):c.1620+3G>C
|
rs1827929677
|
|
NM_004260.4(RECQL4):c.1620+5G>A
|
rs1375331593
|
|
NM_004260.4(RECQL4):c.1620+6C>T
|
rs753574521
|
|
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.1621-3C>G
|
rs1827866210
|
|
NM_004260.4(RECQL4):c.1621-3C>T
|
|
|
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.1627G>A (p.Gly543Ser)
|
rs1193351573
|
|
NM_004260.4(RECQL4):c.1629C>T (p.Gly543=)
|
|
|
NM_004260.4(RECQL4):c.162G>T (p.Gln54His)
|
|
|
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.1635_1637del (p.Pro546del)
|
rs1827863465
|
|
NM_004260.4(RECQL4):c.1637C>G (p.Pro546Arg)
|
rs377298374
|
|
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.1651G>A (p.Ala551Thr)
|
|
|
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.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.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+16G>A
|
|
|
NM_004260.4(RECQL4):c.1704+17C>T
|
|
|
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.1705-11G>T
|
|
|
NM_004260.4(RECQL4):c.1705-17G>C
|
|
|
NM_004260.4(RECQL4):c.1705-23_1705-7dup
|
rs749752883
|
|
NM_004260.4(RECQL4):c.1705-7C>A
|
rs1377388737
|
|
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.1714G>A (p.Ala572Thr)
|
rs1189301415
|
|
NM_004260.4(RECQL4):c.1715C>T (p.Ala572Val)
|
|
|
NM_004260.4(RECQL4):c.1718A>G (p.Gln573Arg)
|
rs2130696913
|
|
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.172G>A (p.Gly58Arg)
|
|
|
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.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.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.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.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.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.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>G (p.Ala593=)
|
|
|
NM_004260.4(RECQL4):c.1783C>G (p.Gln595Glu)
|
rs1018200211
|
|
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.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.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.1807T>C (p.Cys603Arg)
|
rs1060501379
|
|
NM_004260.4(RECQL4):c.1811T>C (p.Ile604Thr)
|
rs1192112207
|
|
NM_004260.4(RECQL4):c.1816G>A (p.Glu606Lys)
|
rs878854644
|
|
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.1829T>G (p.Leu610Arg)
|
|
|
NM_004260.4(RECQL4):c.182G>A (p.Ser61Asn)
|
rs1815349306
|
|
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.183C>A (p.Ser61Arg)
|
|
|
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.1852C>G (p.Arg618Gly)
|
rs766726409
|
|
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>G (p.Cys620Trp)
|
rs1827815076
|
|
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.1870G>C (p.Val624Leu)
|
|
|
NM_004260.4(RECQL4):c.1877A>G (p.Lys626Arg)
|
rs778391731
|
|
NM_004260.4(RECQL4):c.1878+20G>C
|
|
|
NM_004260.4(RECQL4):c.1878+5G>A
|
rs1827811268
|
|
NM_004260.4(RECQL4):c.1879-3C>A
|
rs773289669
|
|
NM_004260.4(RECQL4):c.1879-3C>T
|
rs773289669
|
|
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.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.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.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.1904A>C (p.His635Pro)
|
rs1291839407
|
|
NM_004260.4(RECQL4):c.1906T>C (p.Cys636Arg)
|
|
|
NM_004260.4(RECQL4):c.1909T>C (p.Phe637Leu)
|
rs1554899485
|
|
NM_004260.4(RECQL4):c.1916G>A (p.Gly639Asp)
|
|
|
NM_004260.4(RECQL4):c.1916G>T (p.Gly639Val)
|
|
|
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>G (p.Ser64Trp)
|
|
|
NM_004260.4(RECQL4):c.191C>T (p.Ser64Leu)
|
rs1554904702
|
|
NM_004260.4(RECQL4):c.1921A>G (p.Thr641Ala)
|
|
|
NM_004260.4(RECQL4):c.1922C>T (p.Thr641Ile)
|
rs867428284
|
|
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.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.1936C>A (p.Arg646Ser)
|
rs398124116
|
|
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.1949G>C (p.Ser650Thr)
|
|
|
NM_004260.4(RECQL4):c.1951G>A (p.Asp651Asn)
|
|
|
NM_004260.4(RECQL4):c.1955T>G (p.Val652Gly)
|
rs1167635927
|
|
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.1964A>C (p.His655Pro)
|
rs2130691445
|
|
NM_004260.4(RECQL4):c.1965C>G (p.His655Gln)
|
|
|
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.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.1990C>T (p.Leu664Phe)
|
|
|
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.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.2005C>T (p.Pro669Ser)
|
rs888214723
|
|
NM_004260.4(RECQL4):c.2006C>G (p.Pro669Arg)
|
|
|
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.2015C>T (p.Thr672Ile)
|
rs772696526
|
|
NM_004260.4(RECQL4):c.2017A>T (p.Asn673Tyr)
|
|
|
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.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.2035T>C (p.Ser679Pro)
|
|
|
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.2053G>C (p.Asp685His)
|
|
|
NM_004260.4(RECQL4):c.2055C>G (p.Asp685Glu)
|
|
|
NM_004260.4(RECQL4):c.2057A>C (p.Gln686Pro)
|
|
|
NM_004260.4(RECQL4):c.2058+17T>G
|
|
|
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.2058G>C (p.Gln686His)
|
|
|
NM_004260.4(RECQL4):c.2059-10_2069dup
|
rs1554898831
|
|
NM_004260.4(RECQL4):c.2059-3C>T
|
|
|
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.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.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>T (p.Leu691=)
|
|
|
NM_004260.4(RECQL4):c.2075T>G (p.Leu692Arg)
|
|
|
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.2080G>A (p.Gly694Ser)
|
rs750118023
|
|
NM_004260.4(RECQL4):c.2081G>A (p.Gly694Asp)
|
rs887964523
|
|
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.2093A>G (p.Gln698Arg)
|
rs1827683274
|
|
NM_004260.4(RECQL4):c.2096A>C (p.Asn699Thr)
|
rs1827683037
|
|
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.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.2112_2114del (p.Ile705del)
|
rs770270259
|
|
NM_004260.4(RECQL4):c.2113A>C (p.Ile705Leu)
|
rs374262706
|
|
NM_004260.4(RECQL4):c.2116T>A (p.Tyr706Asn)
|
rs1827677165
|
|
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.213+13C>A
|
|
|
NM_004260.4(RECQL4):c.213+17G>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.2136C>G (p.Asp712Glu)
|
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.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.214-16_214-15del
|
|
|
NM_004260.4(RECQL4):c.214-19C>T
|
|
|
NM_004260.4(RECQL4):c.214-3C>T
|
rs367849648
|
|
NM_004260.4(RECQL4):c.2140G>A (p.Glu714Lys)
|
rs776931639
|
|
NM_004260.4(RECQL4):c.2143C>G (p.Arg715Gly)
|
rs373292946
|
|
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.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.2152G>A (p.Ala718Thr)
|
rs1586804739
|
|
NM_004260.4(RECQL4):c.2156T>A (p.Leu719His)
|
rs1827665831
|
|
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.2168G>A (p.Cys723Tyr)
|
|
|
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.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.2185G>C (p.Val729Leu)
|
rs376141829
|
|
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>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.2198G>C (p.Gly733Ala)
|
rs1060501359
|
|
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.2201-3A>G
|
rs1554898541
|
|
NM_004260.4(RECQL4):c.2201-7C>G
|
rs751734833
|
|
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.2210C>A (p.Pro737His)
|
|
|
NM_004260.4(RECQL4):c.2210C>G (p.Pro737Arg)
|
|
|
NM_004260.4(RECQL4):c.2218A>G (p.Thr740Ala)
|
rs1586803619
|
|
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.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.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.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.2254G>A (p.Glu752Lys)
|
rs1586803311
|
|
NM_004260.4(RECQL4):c.2257CGG[2] (p.Arg755del)
|
rs751765974
|
|
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.2272C>G (p.Arg758Gly)
|
rs758790200
|
|
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro)
|
rs748416710
|
|
NM_004260.4(RECQL4):c.2276C>A (p.Ala759Asp)
|
|
|
NM_004260.4(RECQL4):c.2276C>T (p.Ala759Val)
|
rs1586803103
|
|
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.2293T>G (p.Leu765Val)
|
|
|
NM_004260.4(RECQL4):c.229T>G (p.Cys77Gly)
|
rs2130736466
|
|
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.2306T>C (p.Val769Ala)
|
rs1827622405
|
|
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.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.231C>T (p.Cys77=)
|
|
|
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.2335G>T (p.Asp779Tyr)
|
rs780228802
|
|
NM_004260.4(RECQL4):c.2336A>G (p.Asp779Gly)
|
rs2130678409
|
|
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.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.2357T>G (p.Val786Gly)
|
rs990445273
|
|
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>G (p.His788Gln)
|
rs1410031368
|
|
NM_004260.4(RECQL4):c.2365C>G (p.Leu789Val)
|
rs2130677910
|
|
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.2371C>A (p.Leu791Met)
|
rs1240837003
|
|
NM_004260.4(RECQL4):c.2372T>C (p.Leu791Pro)
|
rs774894142
|
|
NM_004260.4(RECQL4):c.2374C>T (p.Pro792Ser)
|
|
|
NM_004260.4(RECQL4):c.2378C>G (p.Pro793Arg)
|
|
|
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.2395G>C (p.Val799Leu)
|
|
|
NM_004260.4(RECQL4):c.2398C>G (p.Gln800Glu)
|
rs1206089987
|
|
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.2408G>A (p.Gly803Asp)
|
|
|
NM_004260.4(RECQL4):c.2414C>A (p.Ala805Asp)
|
rs765894032
|
|
NM_004260.4(RECQL4):c.2417G>C (p.Gly806Ala)
|
rs762456224
|
|
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.2420G>C (p.Arg807Pro)
|
rs571684398
|
|
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn)
|
rs1423500226
|
|
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.2453T>C (p.Leu818Pro)
|
|
|
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.2463+5G>A
|
rs1264630646
|
|
NM_004260.4(RECQL4):c.2463G>C (p.Gln821His)
|
|
|
NM_004260.4(RECQL4):c.2464G>A (p.Gly822Ser)
|
|
|
NM_004260.4(RECQL4):c.2465G>A (p.Gly822Asp)
|
|
|
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.2472_2480del (p.Asp824_Arg826del)
|
rs2130673898
|
|
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.2479G>C (p.Glu827Gln)
|
|
|
NM_004260.4(RECQL4):c.2480A>G (p.Glu827Gly)
|
rs1827567523
|
|
NM_004260.4(RECQL4):c.2483T>A (p.Leu828Gln)
|
rs891542221
|
|
NM_004260.4(RECQL4):c.2483T>C (p.Leu828Pro)
|
|
|
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His)
|
rs375250269
|
|
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.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.2504A>C (p.Asp835Ala)
|
|
|
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.2518C>G (p.Leu840Val)
|
rs201106179
|
|
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.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.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.2542C>G (p.Arg848Gly)
|
rs757540549
|
|
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.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.2554G>A (p.Ala852Thr)
|
|
|
NM_004260.4(RECQL4):c.2557TGCACC[5] (p.853CT[5])
|
rs548804317
|
|
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.2563T>A (p.Cys855Ser)
|
|
|
NM_004260.4(RECQL4):c.2564G>C (p.Cys855Ser)
|
|
|
NM_004260.4(RECQL4):c.2567C>T (p.Thr856Ile)
|
rs1827549635
|
|
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.2584T>A (p.Ser862Thr)
|
|
|
NM_004260.4(RECQL4):c.2590C>A (p.Gln864Lys)
|
rs1054186954
|
|
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.2599G>A (p.Ala867Thr)
|
rs1000281324
|
|
NM_004260.4(RECQL4):c.2600C>T (p.Ala867Val)
|
rs2130671496
|
|
NM_004260.4(RECQL4):c.2603T>C (p.Val868Ala)
|
|
|
NM_004260.4(RECQL4):c.2609G>C (p.Gly870Ala)
|
rs1827539195
|
|
NM_004260.4(RECQL4):c.2613G>C (p.Glu871Asp)
|
|
|
NM_004260.4(RECQL4):c.2615G>A (p.Arg872Lys)
|
rs1827538570
|
|
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.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.2632C>A (p.Pro878Thr)
|
|
|
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.2638C>A (p.Gln880Lys)
|
|
|
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.2645C>T (p.Ala882Val)
|
|
|
NM_004260.4(RECQL4):c.2647G>C (p.Glu883Gln)
|
|
|
NM_004260.4(RECQL4):c.2648A>G (p.Glu883Gly)
|
rs1305824852
|
|
NM_004260.4(RECQL4):c.2650C>G (p.Gln884Glu)
|
|
|
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.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.2675G>A (p.Gly892Glu)
|
rs1461172672
|
|
NM_004260.4(RECQL4):c.2677C>G (p.Pro893Ala)
|
rs1264247879
|
|
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.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.2708C>T (p.Ala903Val)
|
|
|
NM_004260.4(RECQL4):c.2710C>G (p.Leu904Val)
|
|
|
NM_004260.4(RECQL4):c.2710C>T (p.Leu904Phe)
|
rs748437594
|
|
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.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.2720A>G (p.Gln907Arg)
|
rs1827518669
|
|
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.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.274_275delinsCG (p.Ser92Arg)
|
|
|
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.2755+13G>C
|
|
|
NM_004260.4(RECQL4):c.2755+19G>A
|
|
|
NM_004260.4(RECQL4):c.2755+5G>A
|
rs1280919842
|
|
NM_004260.4(RECQL4):c.2755+9C>G
|
|
|
NM_004260.4(RECQL4):c.2756-19_2756-13del
|
|
|
NM_004260.4(RECQL4):c.2756-23_2756-16del
|
|
|
NM_004260.4(RECQL4):c.2756-34_2756-8del
|
|
|
NM_004260.4(RECQL4):c.2756-5C>G
|
rs541518527
|
|
NM_004260.4(RECQL4):c.2756-6C>G
|
rs369289550
|
|
NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met)
|
rs752058642
|
|
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
|
|
|
NM_004260.4(RECQL4):c.2769G>T (p.Leu923Phe)
|
rs368618566
|
|
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.277A>G (p.Thr93Ala)
|
rs1815241311
|
|
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)
|
rs774274636
|
|
NM_004260.4(RECQL4):c.2784G>C (p.Glu928Asp)
|
rs1827486203
|
|
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.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.2800T>C (p.Trp934Arg)
|
|
|
NM_004260.4(RECQL4):c.2800T>G (p.Trp934Gly)
|
rs1827484063
|
|
NM_004260.4(RECQL4):c.2802G>C (p.Trp934Cys)
|
|
|
NM_004260.4(RECQL4):c.2803C>G (p.Leu935Val)
|
rs745494721
|
|
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.2816C>A (p.Ala939Glu)
|
rs561220929
|
|
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.2828C>T (p.Thr943Ile)
|
rs1827478545
|
|
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.2839C>G (p.Leu947Val)
|
|
|
NM_004260.4(RECQL4):c.283G>C (p.Gly95Arg)
|
rs1564810489
|
|
NM_004260.4(RECQL4):c.2846G>T (p.Cys949Phe)
|
|
|
NM_004260.4(RECQL4):c.2849C>T (p.Pro950Leu)
|
|
|
NM_004260.4(RECQL4):c.284G>C (p.Gly95Ala)
|
rs2130735581
|
|
NM_004260.4(RECQL4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_004260.4(RECQL4):c.2852G>C (p.Gly951Ala)
|
|
|
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.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.2864A>G (p.Gln955Arg)
|
rs1827473213
|
|
NM_004260.4(RECQL4):c.2866C>T (p.Leu956Phe)
|
rs1827472743
|
|
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.2879C>G (p.Ala960Gly)
|
rs373651108
|
|
NM_004260.4(RECQL4):c.287G>A (p.Arg96Gln)
|
|
|
NM_004260.4(RECQL4):c.2885+5G>C
|
|
|
NM_004260.4(RECQL4):c.2885+6C>T
|
rs1827466838
|
|
NM_004260.4(RECQL4):c.2885G>A (p.Arg962Lys)
|
rs577462627
|
|
NM_004260.4(RECQL4):c.2886-3C>G
|
rs765331236
|
|
NM_004260.4(RECQL4):c.2886-7G>A
|
rs757341042
|
|
NM_004260.4(RECQL4):c.2886G>C (p.Arg962Ser)
|
|
|
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.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.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>T (p.Val968=)
|
|
|
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.2920C>G (p.Leu974Val)
|
rs1263288809
|
|
NM_004260.4(RECQL4):c.2924C>T (p.Pro975Leu)
|
rs769194048
|
|
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.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.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.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.2948G>A (p.Ser983Asn)
|
rs1586795561
|
|
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.2953G>C (p.Val985Leu)
|
rs200629599
|
|
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.2966T>C (p.Met989Thr)
|
rs767220757
|
|
NM_004260.4(RECQL4):c.296A>G (p.Gln99Arg)
|
rs1586830416
|
|
NM_004260.4(RECQL4):c.2971A>G (p.Lys991Glu)
|
|
|
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.2995G>C (p.Glu999Gln)
|
|
|
NM_004260.4(RECQL4):c.2997G>T (p.Glu999Asp)
|
rs902652277
|
|
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.3005C>T (p.Ser1002Phe)
|
|
|
NM_004260.4(RECQL4):c.3012G>A (p.Arg1004=)
|
|
|
NM_004260.4(RECQL4):c.3022T>A (p.Cys1008Ser)
|
|
|
NM_004260.4(RECQL4):c.3022T>C (p.Cys1008Arg)
|
rs762312510
|
|
NM_004260.4(RECQL4):c.3023G>A (p.Cys1008Tyr)
|
rs1564790487
|
|
NM_004260.4(RECQL4):c.3028C>G (p.Leu1010Val)
|
rs1373023053
|
|
NM_004260.4(RECQL4):c.3029T>C (p.Leu1010Pro)
|
rs1827424443
|
|
NM_004260.4(RECQL4):c.3034T>C (p.Trp1012Arg)
|
|
|
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.3040C>T (p.His1014Tyr)
|
rs760096494
|
|
NM_004260.4(RECQL4):c.3040_3042del (p.His1014del)
|
rs1827421175
|
|
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.3055+20A>G
|
|
|
NM_004260.4(RECQL4):c.3055+3G>A
|
|
|
NM_004260.4(RECQL4):c.3055+5G>T
|
|
|
NM_004260.4(RECQL4):c.3056-20T>A
|
|
|
NM_004260.4(RECQL4):c.3056-4G>T
|
rs2130660782
|
|
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.3062G>C (p.Arg1021Pro)
|
rs34666647
|
|
NM_004260.4(RECQL4):c.3062_3079dup (p.Arg1021_Val1026dup)
|
rs1310379257
|
|
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.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.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.3086A>G (p.Glu1029Gly)
|
|
|
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.3094G>A (p.Glu1032Lys)
|
rs1249753953
|
|
NM_004260.4(RECQL4):c.3096G>C (p.Glu1032Asp)
|
rs2130660032
|
|
NM_004260.4(RECQL4):c.309G>C (p.Pro103=)
|
|
|
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.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.3116G>A (p.Ser1039Asn)
|
|
|
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu)
|
rs370867731
|
|
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.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.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.3130A>G (p.Thr1044Ala)
|
|
|
NM_004260.4(RECQL4):c.3130A>T (p.Thr1044Ser)
|
rs1827381348
|
|
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>T (p.Glu1046Asp)
|
rs1286948806
|
|
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.3150G>C (p.Gln1050His)
|
rs2130659036
|
|
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.3161T>G (p.Phe1054Cys)
|
rs1564789631
|
|
NM_004260.4(RECQL4):c.3164T>C (p.Leu1055Pro)
|
rs1060501380
|
|
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.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.3172C>A (p.Arg1058Ser)
|
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.3176T>G (p.Val1059Gly)
|
|
|
NM_004260.4(RECQL4):c.317G>A (p.Gly106Glu)
|
rs1815229251
|
|
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.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>T (p.Glu1063Asp)
|
rs1827364974
|
|
NM_004260.4(RECQL4):c.318G>T (p.Gly106=)
|
rs756229189
|
|
NM_004260.4(RECQL4):c.3190C>T (p.Arg1064Cys)
|
rs781751586
|
|
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.3200_3205del (p.Leu1067_Ala1068del)
|
rs921796381
|
|
NM_004260.4(RECQL4):c.3202G>A (p.Ala1068Thr)
|
rs1827358772
|
|
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.3211C>G (p.Arg1071Gly)
|
|
|
NM_004260.4(RECQL4):c.3211C>T (p.Arg1071Cys)
|
rs767530194
|
|
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.3221T>A (p.Phe1074Tyr)
|
|
|
NM_004260.4(RECQL4):c.3226G>A (p.Ala1076Thr)
|
rs1192096078
|
|
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)
|
|
|
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+13_3236+14delinsTA
|
|
|
NM_004260.4(RECQL4):c.3236+6G>A
|
rs1315586319
|
|
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.3237-10C>G
|
|
|
NM_004260.4(RECQL4):c.3237-34_3237-5dup
|
rs2130656481
|
|
NM_004260.4(RECQL4):c.3237-6C>T
|
rs1827332199
|
|
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.3247C>A (p.Pro1083Thr)
|
rs374434439
|
|
NM_004260.4(RECQL4):c.3248C>T (p.Pro1083Leu)
|
rs1586791818
|
|
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.3263G>C (p.Cys1088Ser)
|
rs780200030
|
|
NM_004260.4(RECQL4):c.3263G>T (p.Cys1088Phe)
|
rs780200030
|
|
NM_004260.4(RECQL4):c.3265C>G (p.Leu1089Val)
|
rs1350035847
|
|
NM_004260.4(RECQL4):c.3268G>C (p.Glu1090Gln)
|
rs756401653
|
|
NM_004260.4(RECQL4):c.3269A>G (p.Glu1090Gly)
|
|
|
NM_004260.4(RECQL4):c.3274C>A (p.Gln1092Lys)
|
|
|
NM_004260.4(RECQL4):c.3275A>G (p.Gln1092Arg)
|
|
|
NM_004260.4(RECQL4):c.3280GAG[1] (p.Glu1095del)
|
rs1586791499
|
|
NM_004260.4(RECQL4):c.3283G>A (p.Glu1095Lys)
|
|
|
NM_004260.4(RECQL4):c.3285G>T (p.Glu1095Asp)
|
rs2130655535
|
|
NM_004260.4(RECQL4):c.3287G>T (p.Arg1096Leu)
|
|
|
NM_004260.4(RECQL4):c.3289A>T (p.Ser1097Cys)
|
|
|
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.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.3308T>G (p.Leu1103Arg)
|
rs1827309086
|
|
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.3323T>C (p.Phe1108Ser)
|
rs1332079370
|
|
NM_004260.4(RECQL4):c.3324T>A (p.Phe1108Leu)
|
|
|
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.3333G>C (p.Glu1111Asp)
|
rs1324387645
|
|
NM_004260.4(RECQL4):c.3337G>A (p.Gly1113Arg)
|
rs35101495
|
|
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.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>C (p.Glu1120Asp)
|
rs770246912
|
|
NM_004260.4(RECQL4):c.3363C>A (p.Asp1121Glu)
|
rs148752485
|
|
NM_004260.4(RECQL4):c.3367C>G (p.Gln1123Glu)
|
rs995015088
|
|
NM_004260.4(RECQL4):c.3368A>C (p.Gln1123Pro)
|
rs1827291422
|
|
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.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.3388G>A (p.Ala1130Thr)
|
rs1186946412
|
|
NM_004260.4(RECQL4):c.338T>G (p.Leu113Arg)
|
rs1245684504
|
|
NM_004260.4(RECQL4):c.3392G>T (p.Arg1131Ile)
|
rs201369291
|
|
NM_004260.4(RECQL4):c.3393+11T>G
|
|
|
NM_004260.4(RECQL4):c.3393+14G>A
|
|
|
NM_004260.4(RECQL4):c.3393+16C>T
|
|
|
NM_004260.4(RECQL4):c.3393+18A>T
|
|
|
NM_004260.4(RECQL4):c.3393+4A>T
|
|
|
NM_004260.4(RECQL4):c.3394-13C>T
|
|
|
NM_004260.4(RECQL4):c.3394-4A>T
|
rs777542762
|
|
NM_004260.4(RECQL4):c.3394-4dup
|
rs2130652323
|
|
NM_004260.4(RECQL4):c.3394-8C>A
|
|
|
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.3399G>A (p.Gln1133=)
|
|
|
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.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.3415G>A (p.Val1139Ile)
|
rs1431803679
|
|
NM_004260.4(RECQL4):c.3415G>T (p.Val1139Phe)
|
rs1431803679
|
|
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.3430C>G (p.Arg1144Gly)
|
|
|
NM_004260.4(RECQL4):c.3433C>A (p.Gln1145Lys)
|
rs1827248750
|
|
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.3443C>G (p.Ser1148Cys)
|
rs35346077
|
|
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.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>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.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.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.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.349C>G (p.Leu117Val)
|
|
|
NM_004260.4(RECQL4):c.34C>G (p.Gln12Glu)
|
|
|
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>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.3503-1G>A
|
|
|
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.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.3511T>C (p.Cys1171Arg)
|
|
|
NM_004260.4(RECQL4):c.3513C>G (p.Cys1171Trp)
|
rs2130649211
|
|
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.353A>G (p.Gln118Arg)
|
rs757435100
|
|
NM_004260.4(RECQL4):c.354+19G>C
|
|
|
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.3545_3546delinsTT (p.Arg1182Leu)
|
rs1827186377
|
|
NM_004260.4(RECQL4):c.355-14T>C
|
|
|
NM_004260.4(RECQL4):c.355-3C>G
|
rs778042700
|
|
NM_004260.4(RECQL4):c.355-9C>A
|
rs571686323
|
|
NM_004260.4(RECQL4):c.3551G>A (p.Trp1184Ter)
|
|
|
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.3565C>G (p.His1189Asp)
|
|
|
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.3578A>G (p.His1193Arg)
|
rs753427189
|
|
NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del)
|
rs2130648343
|
|
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.3583C>G (p.Leu1195Val)
|
rs1353637154
|
|
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.3595G>A (p.Ala1199Thr)
|
rs1586787093
|
|
NM_004260.4(RECQL4):c.359G>A (p.Gly120Glu)
|
|
|
NM_004260.4(RECQL4):c.359G>C (p.Gly120Ala)
|
rs779891153
|
|
NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
|
|
|
NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys)
|
rs1827173179
|
|
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.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>C (p.Gln1205His)
|
rs1586786914
|
|
NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met)
|
rs1346196114
|
|
NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly)
|
rs41555416
|
|
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.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.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.384G>T (p.Trp128Cys)
|
rs1335967859
|
|
NM_004260.4(RECQL4):c.386C>G (p.Pro129Arg)
|
|
|
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.3G>A (p.Met1Ile)
|
|
|
NM_004260.4(RECQL4):c.3G>T (p.Met1Ile)
|
rs1815451127
|
|
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.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.418C>T (p.Pro140Ser)
|
|
|
NM_004260.4(RECQL4):c.419C>T (p.Pro140Leu)
|
|
|
NM_004260.4(RECQL4):c.424C>G (p.Pro142Ala)
|
rs781248589
|
|
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.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.439C>T (p.Pro147Ser)
|
|
|
NM_004260.4(RECQL4):c.43G>A (p.Glu15Lys)
|
|
|
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.449C>A (p.Ser150Tyr)
|
rs748466411
|
|
NM_004260.4(RECQL4):c.449C>T (p.Ser150Phe)
|
|
|
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.462A>G (p.Lys154=)
|
|
|
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.466A>T (p.Ser156Cys)
|
rs1586826374
|
|
NM_004260.4(RECQL4):c.468T>A (p.Ser156Arg)
|
|
|
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>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.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.484C>T (p.Leu162Phe)
|
rs2130727988
|
|
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.490G>C (p.Glu164Gln)
|
rs576735078
|
|
NM_004260.4(RECQL4):c.491A>G (p.Glu164Gly)
|
rs1554903532
|
|
NM_004260.4(RECQL4):c.497A>G (p.Gln166Arg)
|
rs1815064202
|
|
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.511C>G (p.Arg171Gly)
|
rs775651175
|
|
NM_004260.4(RECQL4):c.512G>T (p.Arg171Leu)
|
rs770777125
|
|
NM_004260.4(RECQL4):c.519G>T (p.Gln173His)
|
|
|
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.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>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.538A>G (p.Ser180Gly)
|
|
|
NM_004260.4(RECQL4):c.539G>C (p.Ser180Thr)
|
rs1060501378
|
|
NM_004260.4(RECQL4):c.53T>C (p.Phe18Ser)
|
rs2130745700
|
|
NM_004260.4(RECQL4):c.541C>G (p.Gln181Glu)
|
|
|
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.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.560A>G (p.Asp187Gly)
|
rs1815046572
|
|
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.569G>C (p.Trp190Ser)
|
rs2130726288
|
|
NM_004260.4(RECQL4):c.56G>T (p.Arg19Leu)
|
|
|
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.595C>T (p.Pro199Ser)
|
|
|
NM_004260.4(RECQL4):c.596C>T (p.Pro199Leu)
|
rs1564808023
|
|
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>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.619G>T (p.Ala207Ser)
|
rs2130725510
|
|
NM_004260.4(RECQL4):c.620C>T (p.Ala207Val)
|
rs2130725479
|
|
NM_004260.4(RECQL4):c.623G>A (p.Cys208Tyr)
|
rs1815031928
|
|
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.637G>A (p.Gly213Ser)
|
|
|
NM_004260.4(RECQL4):c.638G>T (p.Gly213Val)
|
|
|
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.64C>T (p.Arg22Cys)
|
rs960379510
|
|
NM_004260.4(RECQL4):c.650C>T (p.Ser217Leu)
|
|
|
NM_004260.4(RECQL4):c.652C>G (p.Gln218Glu)
|
|
|
NM_004260.4(RECQL4):c.653A>G (p.Gln218Arg)
|
rs1815022318
|
|
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.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.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.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.688C>A (p.Pro230Thr)
|
rs745571670
|
|
NM_004260.4(RECQL4):c.68G>T (p.Gly23Val)
|
rs1815429028
|
|
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.695C>T (p.Ala232Val)
|
|
|
NM_004260.4(RECQL4):c.698G>A (p.Gly233Asp)
|
rs2130724078
|
|
NM_004260.4(RECQL4):c.700T>A (p.Ser234Thr)
|
|
|
NM_004260.4(RECQL4):c.701C>T (p.Ser234Phe)
|
rs746487281
|
|
NM_004260.4(RECQL4):c.704A>G (p.Gln235Arg)
|
rs1586824485
|
|
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.712G>A (p.Glu238Lys)
|
rs587778651
|
|
NM_004260.4(RECQL4):c.712G>C (p.Glu238Gln)
|
|
|
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.716C>A (p.Ala239Asp)
|
rs146709578
|
|
NM_004260.4(RECQL4):c.717_719del (p.Ser240del)
|
|
|
NM_004260.4(RECQL4):c.71G>A (p.Arg24Gln)
|
rs1296633763
|
|
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.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.740T>G (p.Ile247Ser)
|
|
|
NM_004260.4(RECQL4):c.741C>G (p.Ile247Met)
|
rs1389538148
|
|
NM_004260.4(RECQL4):c.745G>C (p.Val249Leu)
|
rs756397882
|
|
NM_004260.4(RECQL4):c.748G>A (p.Gly250Arg)
|
rs1174607613
|
|
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.754C>T (p.Pro252Ser)
|
rs376485578
|
|
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.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.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.789A>C (p.Arg263Ser)
|
rs1430320264
|
|
NM_004260.4(RECQL4):c.789A>T (p.Arg263Ser)
|
rs1430320264
|
|
NM_004260.4(RECQL4):c.794A>G (p.Asn265Ser)
|
rs1814980293
|
|
NM_004260.4(RECQL4):c.79A>G (p.Ser27Gly)
|
|
|
NM_004260.4(RECQL4):c.7C>G (p.Arg3Gly)
|
rs886042531
|
|
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.818C>T (p.Ala273Val)
|
rs1349749745
|
|
NM_004260.4(RECQL4):c.820C>A (p.Gln274Lys)
|
|
|
NM_004260.4(RECQL4):c.821A>G (p.Gln274Arg)
|
rs1279942403
|
|
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.84+13_84+20del
|
|
|
NM_004260.4(RECQL4):c.84+16G>A
|
|
|
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.840C>G (p.Ser280Arg)
|
rs1407076588
|
|
NM_004260.4(RECQL4):c.842A>G (p.Gln281Arg)
|
|
|
NM_004260.4(RECQL4):c.845C>A (p.Ala282Asp)
|
|
|
NM_004260.4(RECQL4):c.847G>A (p.Gly283Arg)
|
rs2130721404
|
|
NM_004260.4(RECQL4):c.848G>T (p.Gly283Val)
|
rs1814964597
|
|
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.85-17A>G
|
|
|
NM_004260.4(RECQL4):c.85-21_85-12del
|
rs2130744106
|
|
NM_004260.4(RECQL4):c.85-26_85-20dup
|
|
|
NM_004260.4(RECQL4):c.85-5T>G
|
rs1815407702
|
|
NM_004260.4(RECQL4):c.85-9C>G
|
|
|
NM_004260.4(RECQL4):c.857C>G (p.Ser286Trp)
|
rs757320755
|
|
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.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.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.880G>A (p.Val294Ile)
|
rs753691518
|
|
NM_004260.4(RECQL4):c.881T>C (p.Val294Ala)
|
rs766346414
|
|
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.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.907G>A (p.Val303Ile)
|
rs1489813654
|
|
NM_004260.4(RECQL4):c.907G>T (p.Val303Leu)
|
rs1489813654
|
|
NM_004260.4(RECQL4):c.910C>G (p.Gln304Glu)
|
|
|
NM_004260.4(RECQL4):c.911A>G (p.Gln304Arg)
|
rs2130720006
|
|
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.925C>G (p.Gln309Glu)
|
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>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.931T>G (p.Cys311Gly)
|
|
|
NM_004260.4(RECQL4):c.934A>G (p.Ser312Gly)
|
|
|
NM_004260.4(RECQL4):c.935G>A (p.Ser312Asn)
|
|
|
NM_004260.4(RECQL4):c.941C>T (p.Pro314Leu)
|
rs1814931093
|
|
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.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.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.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.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.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.982G>C (p.Ala328Pro)
|
rs2130718555
|
|
NM_004260.4(RECQL4):c.983C>G (p.Ala328Gly)
|
rs777258662
|
|
NM_004260.4(RECQL4):c.986G>A (p.Arg329Lys)
|
rs1814915989
|
|
NM_004260.4(RECQL4):c.986G>C (p.Arg329Thr)
|
|
|
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_006494.4(ERF):c.1243_1245del (p.Ala415del)
|
rs759202471
|
|
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly)
|
rs766642440
|
|
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
|
|
|
NM_006494.4(ERF):c.1500del (p.Ala501fs)
|
|
|
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
|
rs587777009
|
|
NM_006494.4(ERF):c.199T>G (p.Trp67Gly)
|
rs141468833
|
|
NM_006494.4(ERF):c.257G>A (p.Arg86His)
|
rs765295141
|
|
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
|
|
|
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
|
|
|
NM_006494.4(ERF):c.398C>T (p.Pro133Leu)
|
rs2036411561
|
|
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
|
|
|
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)
|
rs767011693
|
|
NM_006494.4(ERF):c.748G>C (p.Val250Leu)
|
rs2036399893
|
|
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
|
|
|
NM_006494.4(ERF):c.911_913del (p.Ser304del)
|
rs2146949300
|
|
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
|
|
|
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
|
|
|
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
|
rs748398827
|
|
NM_016277.5(RAB23):c.481+4A>C
|
|
|
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
|
|
|
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)
|
rs2127996379
|
|
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
|
|
|
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)
|
rs751619487
|
|
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys)
|
rs1572375239
|
|
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu)
|
rs1228739567
|
|
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
|
|
|
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu)
|
rs2103444974
|
|
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
|
|
|
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
|
|
|
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu)
|
rs368497711
|
|
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
|
|
|
NM_020779.4(WDR35):c.1392G>T (p.Gly464=)
|
rs1476590827
|
|
NM_020779.4(WDR35):c.1400+6del
|
|
|
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
|
|
|
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys)
|
rs1462353387
|
|
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala)
|
rs2103417008
|
|
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser)
|
rs2103416923
|
|
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
|
|
|
NM_020779.4(WDR35):c.1846-7T>A
|
rs1479233566
|
|
NM_020779.4(WDR35):c.1866A>G (p.Gly622=)
|
rs2103410659
|
|
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
|
|
|
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
|
|
|
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
|
|
|
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
|
|
|
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu)
|
rs775076264
|
|
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys)
|
rs2103405475
|
|
NM_020779.4(WDR35):c.2129G>A (p.Arg710His)
|
rs370797645
|
|
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)
|
rs370797645
|
|
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
|
|
|
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu)
|
rs144493712
|
|
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
|
|
|
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
|
|
|
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
|
|
|
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
|
|
|
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val)
|
rs1670697417
|
|
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln)
|
rs1670696748
|
|
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg)
|
rs748153278
|
|
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
|
|
|
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg)
|
rs2103403345
|
|
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
|
|
|
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
|
|
|
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
|
|
|
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)
|
rs2103399882
|
|
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser)
|
rs2103463081
|
|
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val)
|
rs1670554390
|
|
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu)
|
rs2103398404
|
|
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser)
|
rs2103398314
|
|
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn)
|
rs376786810
|
|
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
|
|
|
NM_020779.4(WDR35):c.2823G>A (p.Lys941=)
|
rs2103398260
|
|
NM_020779.4(WDR35):c.2856A>G (p.Lys952=)
|
rs755843830
|
|
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu)
|
rs750968053
|
|
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
|
|
|
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala)
|
rs1184414721
|
|
NM_020779.4(WDR35):c.297G>A (p.Met99Ile)
|
rs779065567
|
|
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
|
|
|
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del)
|
rs746953019
|
|
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile)
|
rs201153804
|
|
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
|
|
|
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
|
|
|
NM_020779.4(WDR35):c.3162G>A (p.Val1054=)
|
rs2103378366
|
|
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
|
|
|
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
|
|
|
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys)
|
rs2103378015
|
|
NM_020779.4(WDR35):c.3362+6C>T
|
|
|
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)
|
rs1558317812
|
|
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)
|
rs1558317742
|
|
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
|
|
|
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
|
|
|
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
|
|
|
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
|
|
|
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
|
|
|
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
|
|
|
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
|
|
|
NM_020779.4(WDR35):c.436+4A>G
|
rs1672290200
|
|
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
|
|
|
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
|
|
|
NM_020779.4(WDR35):c.497C>T (p.Ala166Val)
|
rs374556044
|
|
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
|
|
|
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
|
|
|
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
|
|
|
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala)
|
rs1553322982
|
|
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
|
|
|
NM_020779.4(WDR35):c.837G>C (p.Gln279His)
|
rs764069624
|
|
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
|
|
|
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
|
|
|
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)
|
rs1064793123
|
|
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)
|
rs1563474845
|
|
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)
|
rs2150966948
|
|
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)
|
rs1338926241
|
|
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)
|
rs376921992
|
|
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
|
|
|
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)
|
rs1817962450
|
|
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)
|
rs2150706408
|
|
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
|
|
|
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)
|
rs1232639613
|
|
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
|
|
|
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
|
|
|
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
|
|
|
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
|
|
|
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
|
|
|
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)
|
rs758138124
|
|
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)
|
rs758138124
|
|
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe)
|
rs2150675272
|
|
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
|
|
|
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
|
|
|
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)
|
rs121909637
|
|
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
|
|
|
NM_023110.3(FGFR1):c.1430+4A>G
|
|
|
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
|
|
|
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
|
|
|
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
|
|
|
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
|
|
|
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)
|
rs199573818
|
|
NM_023110.3(FGFR1):c.1552+5G>A
|
|
|
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
|
|
|
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
|
|
|
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
|
|
|
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
|
|
|
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)
|
rs2150964150
|
|
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
|
rs760702592
|
|
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)
|
rs2150591908
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)
|
rs531903077
|
|
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
|
|
|
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)
|
rs1162148796
|
|
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
|
|
|
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)
|
rs2150585866
|
|
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
|
|
|
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
|
|
|
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
|
|
|
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del)
|
rs1387712427
|
|
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
|
|
|
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
|
|
|
NM_023110.3(FGFR1):c.1854+15_1854+31del
|
|
|
NM_023110.3(FGFR1):c.1854+17C>G
|
|
|
NM_023110.3(FGFR1):c.1854+7A>T
|
|
|
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)
|
rs1815818452
|
|
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu)
|
rs2150563316
|
|
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)
|
rs1815800575
|
|
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
|
|
|
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
|
|
|
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
|
|
|
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
|
|
|
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
|
|
|
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)
|
rs771078736
|
|
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)
|
rs2150549553
|
|
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
|
|
|
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
|
|
|
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)
|
rs397515445
|
|
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
|
|
|
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
|
|
|
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
|
|
|
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)
|
rs267606806
|
|
NM_023110.3(FGFR1):c.2187-13A>G
|
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
|
|
|
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
|
|
|
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
|
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
|
|
|
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
|
|
|
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
|
|
|
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
|
|
|
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
|
|
|
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)
|
rs755160898
|
|
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
|
|
|
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
|
|
|
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
|
|
|
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)
|
rs759376422
|
|
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
|
|
|
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
|
|
|
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
|
|
|
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
|
|
|
NM_023110.3(FGFR1):c.256G>A (p.Val86Met)
|
rs1404670039
|
|
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
|
|
|
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
|
|
|
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
|
|
|
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)
|
rs1822219907
|
|
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
|
|
|
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
|
|
|
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
|
|
|
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)
|
rs2150955298
|
|
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
|
|
|
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
|
|
|
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)
|
rs138489552
|
|
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)
|
rs1161536828
|
|
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
|
|
|
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
|
|
|
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
|
|
|
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
|
|
|
NM_023110.3(FGFR1):c.449-4dup
|
|
|
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)
|
rs1033377277
|
|
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)
|
rs1413642890
|
|
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
|
|
|
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)
|
rs2150914598
|
|
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)
|
rs2150912609
|
|
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
|
|
|
NM_023110.3(FGFR1):c.621+5G>A
|
|
|
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
|
|
|
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
|
|
|
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
|
|
|
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
|
|
|
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)
|
rs1833133571
|
|
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
|
|
|
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
|
|
|
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
|
|
|
NM_023110.3(FGFR1):c.92-19G>A
|
rs753723806
|
|
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
|
|
|
NM_052989.3(IFT122):c.1008+3A>C
|
|
|
NM_052989.3(IFT122):c.108+4G>A
|
rs1559838129
|
|
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
|
|
|
NM_052989.3(IFT122):c.109-7T>C
|
|
|
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe)
|
rs2108292713
|
|
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln)
|
rs1405512091
|
|
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
|
|
|
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
|
|
|
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
|
|
|
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
|
|
|
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe)
|
rs1335391766
|
|
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
|
|
|
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys)
|
rs1577642330
|
|
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
|
|
|
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
|
|
|
NM_052989.3(IFT122):c.1488G>A (p.Gln496=)
|
rs2078432243
|
|
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
|
|
|
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
|
|
|
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
|
|
|
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
|
|
|
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
|
|
|
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
|
|
|
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
|
|
|
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
|
|
|
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
|
|
|
NM_052989.3(IFT122):c.1851+3A>G
|
|
|
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
|
|
|
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
|
|
|
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
|
|
|
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
|
|
|
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
|
|
|
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
|
|
|
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
|
|
|
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
|
|
|
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
|
|
|
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
|
|
|
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val)
|
rs143662777
|
|
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
|
|
|
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
|
|
|
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
|
|
|
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
|
|
|
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
|
|
|
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe)
|
rs139943115
|
|
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
|
|
|
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
|
|
|
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
|
|
|
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
|
|
|
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
|
|
|
NM_052989.3(IFT122):c.2537G>A (p.Arg846His)
|
rs370415289
|
|
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
|
|
|
NM_052989.3(IFT122):c.2630G>A (p.Arg877His)
|
rs561698295
|
|
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
|
|
|
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg)
|
rs2082199852
|
|
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
|
|
|
NM_052989.3(IFT122):c.273-283A>G
|
|
|
NM_052989.3(IFT122):c.273-313G>C
|
|
|
NM_052989.3(IFT122):c.273-334T>G
|
|
|
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
|
|
|
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys)
|
rs747428443
|
|
NM_052989.3(IFT122):c.2792-12T>A
|
|
|
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
|
|
|
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
|
|
|
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
|
|
|
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
|
|
|
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
|
|
|
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
|
|
|
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
|
|
|
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
|
|
|
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
|
|
|
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
|
|
|
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
|
|
|
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
|
|
|
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
|
|
|
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
|
|
|
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
|
|
|
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
|
|
|
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
|
|
|
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys)
|
rs555281580
|
|
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
|
|
|
NM_052989.3(IFT122):c.3265+5G>A
|
|
|
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
|
|
|
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
|
|
|
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
|
|
|
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
|
|
|
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val)
|
rs754333037
|
|
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro)
|
rs1251905610
|
|
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
|
|
|
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
|
|
|
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
|
|
|
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
|
|
|
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
|
|
|
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln)
|
rs766429633
|
|
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)
|
rs201590142
|
|
NM_052989.3(IFT122):c.3586del (p.Arg1196fs)
|
rs1560036538
|
|
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
|
|
|
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr)
|
rs1278478989
|
|
NM_052989.3(IFT122):c.416+19del
|
rs2108102299
|
|
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
|
|
|
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
|
|
|
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
|
|
|
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
|
|
|
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
|
|
|
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)
|
rs769527595
|
|
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser)
|
rs2108118912
|
|
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
|
|
|
NM_052989.3(IFT122):c.618T>G (p.Ile206Met)
|
rs1320096747
|
|
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
|
|
|
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala)
|
rs1433055646
|
|
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup)
|
rs2076877349
|
|
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
|
|
|
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
|
|
|
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
|
|
|
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
|
|
|
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn)
|
rs2108198145
|
|
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
|
|
|
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
|
|
|
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp)
|
rs1268071941
|
|
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
|
|
|
NM_052989.3(IFT122):c.977C>T (p.Thr326Met)
|
rs1389723772
|
|