NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000051.4(ATM):c.569T>A (p.Ile190Lys)
|
rs201159454
|
0.00622
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg)
|
rs587782442
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
NM_000051.4(ATM):c.1911A>G (p.Gln637=)
|
rs764790965
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)
|
rs781383087
|
0.00009
|
NM_000051.4(ATM):c.572T>A (p.Ile191Asn)
|
rs767132334
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.1236-2A>T
|
rs80159221
|
0.00008
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)
|
rs371526361
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.1887C>T (p.Ser629=)
|
rs143097772
|
0.00006
|
NM_000051.4(ATM):c.198A>G (p.Lys66=)
|
rs540920248
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.2527A>G (p.Asn843Asp)
|
rs1162447958
|
0.00006
|
NM_000051.4(ATM):c.2679A>T (p.Gln893His)
|
rs139316519
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
NM_000051.4(ATM):c.3639T>C (p.His1213=)
|
rs142766756
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)
|
rs746709782
|
0.00006
|
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)
|
rs786203726
|
0.00006
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala)
|
rs1240167425
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2376+20G>C
|
rs140364468
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000051.4(ATM):c.716T>C (p.Phe239Ser)
|
rs143198946
|
0.00005
|
NM_000051.4(ATM):c.861T>C (p.Ile287=)
|
rs55849405
|
0.00005
|
NM_000051.4(ATM):c.129A>G (p.Leu43=)
|
rs780616292
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)
|
rs368209025
|
0.00004
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.2958T>G (p.Val986=)
|
rs745971584
|
0.00004
|
NM_000051.4(ATM):c.3012C>T (p.Ser1004=)
|
rs751260996
|
0.00004
|
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=)
|
rs780240314
|
0.00004
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)
|
rs780192529
|
0.00004
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
NM_000051.4(ATM):c.510G>A (p.Val170=)
|
rs375682557
|
0.00004
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg)
|
rs587779812
|
0.00003
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)
|
rs876659240
|
0.00003
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.1556T>C (p.Val519Ala)
|
rs574458765
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)
|
rs587782141
|
0.00003
|
NM_000051.4(ATM):c.2057T>A (p.Leu686His)
|
rs1239416977
|
0.00003
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
NM_000051.4(ATM):c.2151G>C (p.Arg717=)
|
rs1331738032
|
0.00003
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala)
|
rs926246315
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)
|
rs552010421
|
0.00003
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)
|
rs761251711
|
0.00003
|
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly)
|
rs750322758
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.3514G>C (p.Ala1172Pro)
|
rs779946941
|
0.00003
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
NM_000051.4(ATM):c.389A>G (p.Asp130Gly)
|
rs766034066
|
0.00003
|
NM_000051.4(ATM):c.395C>T (p.Ser132Phe)
|
rs750969764
|
0.00003
|
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)
|
rs748055132
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)
|
rs752559455
|
0.00003
|
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)
|
rs201277352
|
0.00003
|
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)
|
rs759340881
|
0.00003
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
NM_000051.4(ATM):c.4687G>A (p.Asp1563Asn)
|
rs1464587365
|
0.00003
|
NM_000051.4(ATM):c.469T>G (p.Cys157Gly)
|
rs1248850168
|
0.00003
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
NM_000051.4(ATM):c.5069A>G (p.His1690Arg)
|
rs863224574
|
0.00003
|
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr)
|
rs1060501613
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
NM_000051.4(ATM):c.5566G>A (p.Glu1856Lys)
|
rs1465041573
|
0.00003
|
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)
|
rs587779850
|
0.00003
|
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr)
|
rs766901049
|
0.00003
|
NM_000051.4(ATM):c.5725A>G (p.Met1909Val)
|
rs750561317
|
0.00003
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
NM_000051.4(ATM):c.601C>G (p.Gln201Glu)
|
rs886039666
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)
|
rs776227830
|
0.00003
|
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly)
|
rs775767808
|
0.00002
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
0.00002
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
NM_000051.4(ATM):c.1392G>A (p.Leu464=)
|
rs760191806
|
0.00002
|
NM_000051.4(ATM):c.1596C>T (p.Cys532=)
|
rs564050785
|
0.00002
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00002
|
NM_000051.4(ATM):c.1707C>T (p.Ser569=)
|
rs1381837075
|
0.00002
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)
|
rs730881343
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.1947A>G (p.Glu649=)
|
rs1032244771
|
0.00002
|
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu)
|
rs779004090
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)
|
rs587781595
|
0.00002
|
NM_000051.4(ATM):c.2258T>C (p.Met753Thr)
|
rs587781607
|
0.00002
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
NM_000051.4(ATM):c.2338A>T (p.Met780Leu)
|
rs587781446
|
0.00002
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
NM_000051.4(ATM):c.2619A>G (p.Gly873=)
|
rs777979257
|
0.00002
|
NM_000051.4(ATM):c.2736G>A (p.Gln912=)
|
rs757305928
|
0.00002
|
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser)
|
rs141947469
|
0.00002
|
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)
|
rs587780619
|
0.00002
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
NM_000051.4(ATM):c.308A>G (p.Tyr103Cys)
|
rs1249361503
|
0.00002
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)
|
rs587780543
|
0.00002
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
NM_000051.4(ATM):c.3402+3A>G
|
rs786203688
|
0.00002
|
NM_000051.4(ATM):c.3446A>G (p.Asn1149Ser)
|
rs1414846775
|
0.00002
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
NM_000051.4(ATM):c.381A>G (p.Thr127=)
|
rs762582522
|
0.00002
|
NM_000051.4(ATM):c.3841A>T (p.Ser1281Cys)
|
rs370785959
|
0.00002
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn)
|
rs764564211
|
0.00002
|
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)
|
rs750771205
|
0.00002
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg)
|
rs758180727
|
0.00002
|
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)
|
rs755618506
|
0.00002
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
NM_000051.4(ATM):c.4307A>G (p.His1436Arg)
|
rs940104361
|
0.00002
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
NM_000051.4(ATM):c.4476C>T (p.Ser1492=)
|
rs780236656
|
0.00002
|
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)
|
rs769071554
|
0.00002
|
NM_000051.4(ATM):c.4575A>T (p.Ile1525=)
|
rs781539071
|
0.00002
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
NM_000051.4(ATM):c.49C>A (p.His17Asn)
|
rs876658161
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.504C>G (p.Phe168Leu)
|
rs1060504312
|
0.00002
|
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)
|
rs1341457041
|
0.00002
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln)
|
rs755397489
|
0.00002
|
NM_000051.4(ATM):c.5364C>T (p.Gly1788=)
|
rs780134093
|
0.00002
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00002
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)
|
rs1057522721
|
0.00002
|
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)
|
rs730881375
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.852A>G (p.Gln284=)
|
rs140367473
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1023C>T (p.Val341=)
|
rs35728619
|
0.00001
|
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr)
|
rs1064794119
|
0.00001
|
NM_000051.4(ATM):c.1038T>A (p.Ile346=)
|
rs749950833
|
0.00001
|
NM_000051.4(ATM):c.1047G>A (p.Met349Ile)
|
rs768480943
|
0.00001
|
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)
|
rs375049090
|
0.00001
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)
|
rs876659092
|
0.00001
|
NM_000051.4(ATM):c.1055T>C (p.Ile352Thr)
|
rs369203092
|
0.00001
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
NM_000051.4(ATM):c.10G>A (p.Val4Ile)
|
rs1438588853
|
0.00001
|
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)
|
rs376170600
|
0.00001
|
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)
|
rs879254289
|
0.00001
|
NM_000051.4(ATM):c.1114A>G (p.Thr372Ala)
|
rs1591517491
|
0.00001
|
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)
|
rs587779811
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.1143T>A (p.Ser381Arg)
|
rs755991658
|
0.00001
|
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp)
|
rs777755997
|
0.00001
|
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg)
|
rs757486696
|
0.00001
|
NM_000051.4(ATM):c.1178G>T (p.Trp393Leu)
|
rs1025339570
|
0.00001
|
NM_000051.4(ATM):c.1197C>T (p.His399=)
|
rs786201131
|
0.00001
|
NM_000051.4(ATM):c.1203G>A (p.Gln401=)
|
rs1214283617
|
0.00001
|
NM_000051.4(ATM):c.1206G>A (p.Lys402=)
|
rs776001057
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1209A>G (p.Ser403=)
|
rs1213832469
|
0.00001
|
NM_000051.4(ATM):c.121A>G (p.Lys41Glu)
|
rs1060501672
|
0.00001
|
NM_000051.4(ATM):c.1222G>A (p.Asp408Asn)
|
rs864622548
|
0.00001
|
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe)
|
rs786203815
|
0.00001
|
NM_000051.4(ATM):c.1235+3A>G
|
rs1417190414
|
0.00001
|
NM_000051.4(ATM):c.1235+5A>T
|
rs1064793679
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1242G>A (p.Gln414=)
|
rs786203667
|
0.00001
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
NM_000051.4(ATM):c.1292A>C (p.Glu431Ala)
|
rs1320262218
|
0.00001
|
NM_000051.4(ATM):c.1302A>G (p.Pro434=)
|
rs1555070715
|
0.00001
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
NM_000051.4(ATM):c.1317A>G (p.Leu439=)
|
rs1232968268
|
0.00001
|
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe)
|
rs773895161
|
0.00001
|
NM_000051.4(ATM):c.1329A>C (p.Leu443=)
|
rs201460863
|
0.00001
|
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg)
|
rs1591523341
|
0.00001
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.1338G>A (p.Gln446=)
|
rs771673512
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1343A>G (p.His448Arg)
|
rs1555070781
|
0.00001
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
NM_000051.4(ATM):c.1362T>C (p.Tyr454=)
|
rs1373614735
|
0.00001
|
NM_000051.4(ATM):c.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
NM_000051.4(ATM):c.1407G>A (p.Arg469=)
|
rs1555070912
|
0.00001
|
NM_000051.4(ATM):c.1410A>G (p.Ser470=)
|
rs939650649
|
0.00001
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1455T>C (p.Asn485=)
|
rs1385019623
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
NM_000051.4(ATM):c.1473C>G (p.Thr491=)
|
rs764937436
|
0.00001
|
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)
|
rs750280306
|
0.00001
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn)
|
rs778890679
|
0.00001
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)
|
rs1479478300
|
0.00001
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)
|
rs56365018
|
0.00001
|
NM_000051.4(ATM):c.1515T>C (p.Phe505=)
|
rs1057520521
|
0.00001
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
NM_000051.4(ATM):c.1550T>G (p.Val517Gly)
|
rs777986229
|
0.00001
|
NM_000051.4(ATM):c.1575G>A (p.Lys525=)
|
rs587780613
|
0.00001
|
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu)
|
rs864622262
|
0.00001
|
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu)
|
rs587782212
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.1614A>G (p.Ala538=)
|
rs876659636
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.1641C>A (p.Thr547=)
|
rs864622141
|
0.00001
|
NM_000051.4(ATM):c.1641C>G (p.Thr547=)
|
rs864622141
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1656A>G (p.Pro552=)
|
rs1060504275
|
0.00001
|
NM_000051.4(ATM):c.1662G>A (p.Thr554=)
|
rs764646531
|
0.00001
|
NM_000051.4(ATM):c.1671G>A (p.Met557Ile)
|
rs730881341
|
0.00001
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)
|
rs777301065
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)
|
rs1064795170
|
0.00001
|
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)
|
rs876659822
|
0.00001
|
NM_000051.4(ATM):c.1746C>T (p.Phe582=)
|
rs145629926
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu)
|
rs765847854
|
0.00001
|
NM_000051.4(ATM):c.179T>C (p.Val60Ala)
|
rs988441570
|
0.00001
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)
|
rs770377706
|
0.00001
|
NM_000051.4(ATM):c.185+4T>A
|
rs1060501685
|
0.00001
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)
|
rs766757573
|
0.00001
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
NM_000051.4(ATM):c.1893A>G (p.Pro631=)
|
rs764702196
|
0.00001
|
NM_000051.4(ATM):c.1898+3A>G
|
rs200169643
|
0.00001
|
NM_000051.4(ATM):c.1903C>T (p.His635Tyr)
|
rs761491947
|
0.00001
|
NM_000051.4(ATM):c.1907A>G (p.His636Arg)
|
rs1333990758
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.193C>G (p.Gln65Glu)
|
rs775248597
|
0.00001
|
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)
|
rs766259936
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro)
|
rs876659966
|
0.00001
|
NM_000051.4(ATM):c.1966A>G (p.Thr656Ala)
|
rs1064793032
|
0.00001
|
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn)
|
rs1060501565
|
0.00001
|
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)
|
rs750897021
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2048A>G (p.His683Arg)
|
rs1421091487
|
0.00001
|
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)
|
rs1060501691
|
0.00001
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
NM_000051.4(ATM):c.2088A>G (p.Gly696=)
|
rs1555073469
|
0.00001
|
NM_000051.4(ATM):c.210A>T (p.Lys70Asn)
|
rs1064793030
|
0.00001
|
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr)
|
rs753903558
|
0.00001
|
NM_000051.4(ATM):c.2116T>C (p.Ser706Pro)
|
rs536609092
|
0.00001
|
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp)
|
rs1468938522
|
0.00001
|
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala)
|
rs750506930
|
0.00001
|
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)
|
rs587781654
|
0.00001
|
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile)
|
rs1555074846
|
0.00001
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
NM_000051.4(ATM):c.2175C>T (p.Val725=)
|
rs140110298
|
0.00001
|
NM_000051.4(ATM):c.2181C>T (p.Gly727=)
|
rs876658836
|
0.00001
|
NM_000051.4(ATM):c.2207C>T (p.Ala736Val)
|
rs587780617
|
0.00001
|
NM_000051.4(ATM):c.2208T>C (p.Ala736=)
|
rs761874856
|
0.00001
|
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu)
|
rs1017383703
|
0.00001
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr)
|
rs1060501540
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.2284C>G (p.Leu762Val)
|
rs876659401
|
0.00001
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
NM_000051.4(ATM):c.2322T>C (p.Gly774=)
|
rs769575297
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser)
|
rs764538548
|
0.00001
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
NM_000051.4(ATM):c.2374A>G (p.Lys792Glu)
|
rs1423446897
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
NM_000051.4(ATM):c.2379G>A (p.Lys793=)
|
rs1333875379
|
0.00001
|
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)
|
rs750597831
|
0.00001
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
0.00001
|
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)
|
rs952566855
|
0.00001
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.246A>G (p.Val82=)
|
rs757944864
|
0.00001
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2475C>T (p.Phe825=)
|
rs776907383
|
0.00001
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2500G>C (p.Glu834Gln)
|
rs876660430
|
0.00001
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys)
|
rs141054982
|
0.00001
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
NM_000051.4(ATM):c.2571A>G (p.Leu857=)
|
rs1191404395
|
0.00001
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
NM_000051.4(ATM):c.2583C>T (p.Tyr861=)
|
rs886039633
|
0.00001
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)
|
rs764842086
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
NM_000051.4(ATM):c.261A>G (p.Gln87=)
|
rs2078887941
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
0.00001
|
NM_000051.4(ATM):c.2638+3A>G
|
rs876660552
|
0.00001
|
NM_000051.4(ATM):c.2639-3T>C
|
rs1410247657
|
0.00001
|
NM_000051.4(ATM):c.2647A>G (p.Asn883Asp)
|
rs587782382
|
0.00001
|
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe)
|
rs730881351
|
0.00001
|
NM_000051.4(ATM):c.2688T>C (p.Leu896=)
|
rs769490863
|
0.00001
|
NM_000051.4(ATM):c.2698A>G (p.Met900Val)
|
rs138468963
|
0.00001
|
NM_000051.4(ATM):c.270G>T (p.Arg90Ser)
|
rs1313014736
|
0.00001
|
NM_000051.4(ATM):c.2716T>C (p.Leu906=)
|
rs368047468
|
0.00001
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala)
|
rs1265391373
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe)
|
rs770565353
|
0.00001
|
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)
|
rs745737218
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala)
|
rs864622606
|
0.00001
|
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)
|
rs1064795896
|
0.00001
|
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe)
|
rs1188614092
|
0.00001
|
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe)
|
rs3218688
|
0.00001
|
NM_000051.4(ATM):c.2829C>A (p.His943Gln)
|
rs1485943190
|
0.00001
|
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg)
|
rs565886680
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2859G>A (p.Glu953=)
|
rs569489729
|
0.00001
|
NM_000051.4(ATM):c.2862T>C (p.Leu954=)
|
rs1426256662
|
0.00001
|
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.2878C>A (p.Pro960Thr)
|
rs876659412
|
0.00001
|
NM_000051.4(ATM):c.2879C>A (p.Pro960His)
|
rs587779828
|
0.00001
|
NM_000051.4(ATM):c.2889G>A (p.Met963Ile)
|
rs35098825
|
0.00001
|
NM_000051.4(ATM):c.2894A>T (p.Asp965Val)
|
rs876658628
|
0.00001
|
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu)
|
rs750093937
|
0.00001
|
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)
|
rs538105098
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.292A>C (p.Ser98Arg)
|
rs768318076
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
NM_000051.4(ATM):c.2940T>C (p.Tyr980=)
|
rs748119565
|
0.00001
|
NM_000051.4(ATM):c.2953G>C (p.Asp985His)
|
rs1210518784
|
0.00001
|
NM_000051.4(ATM):c.2968A>G (p.Ile990Val)
|
rs899241025
|
0.00001
|
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe)
|
rs587779831
|
0.00001
|
NM_000051.4(ATM):c.2992G>A (p.Val998Met)
|
rs199635238
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val)
|
rs377244521
|
0.00001
|
NM_000051.4(ATM):c.3003A>G (p.Leu1001=)
|
rs765969190
|
0.00001
|
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr)
|
rs1421074475
|
0.00001
|
NM_000051.4(ATM):c.301G>A (p.Val101Ile)
|
rs758483894
|
0.00001
|
NM_000051.4(ATM):c.3030C>T (p.Asn1010=)
|
rs876660913
|
0.00001
|
NM_000051.4(ATM):c.3077+5G>A
|
rs777003996
|
0.00001
|
NM_000051.4(ATM):c.3077+9del
|
rs2081578007
|
0.00001
|
NM_000051.4(ATM):c.3078-17A>G
|
rs2081636353
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.309C>T (p.Tyr103=)
|
rs777499935
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3114A>T (p.Val1038=)
|
rs374451781
|
0.00001
|
NM_000051.4(ATM):c.3126A>G (p.Leu1042=)
|
rs770038542
|
0.00001
|
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)
|
rs1430714562
|
0.00001
|
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)
|
rs3092858
|
0.00001
|
NM_000051.4(ATM):c.3147G>T (p.Leu1049Phe)
|
rs1060501686
|
0.00001
|
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln)
|
rs774935453
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val)
|
rs876660350
|
0.00001
|
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr)
|
rs1160497775
|
0.00001
|
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)
|
rs762810180
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.3216A>G (p.Glu1072=)
|
rs373699194
|
0.00001
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr)
|
rs1302626569
|
0.00001
|
NM_000051.4(ATM):c.3247C>T (p.His1083Tyr)
|
rs768362411
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
NM_000051.4(ATM):c.3283A>C (p.Arg1095=)
|
rs876660302
|
0.00001
|
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu)
|
rs876658491
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)
|
rs925487325
|
0.00001
|
NM_000051.4(ATM):c.3311C>A (p.Ser1104Tyr)
|
rs1555090126
|
0.00001
|
NM_000051.4(ATM):c.3314C>T (p.Ser1105Phe)
|
rs141999815
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
NM_000051.4(ATM):c.3330A>G (p.Ala1110=)
|
rs1009383081
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro)
|
rs876658363
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
NM_000051.4(ATM):c.3351A>G (p.Gln1117=)
|
rs777375945
|
0.00001
|
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)
|
rs745863765
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.337C>T (p.Pro113Ser)
|
rs1060501678
|
0.00001
|
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg)
|
rs587781911
|
0.00001
|
NM_000051.4(ATM):c.3402+5T>C
|
rs1057520229
|
0.00001
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)
|
rs369518512
|
0.00001
|
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)
|
rs786203048
|
0.00001
|
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys)
|
rs773169285
|
0.00001
|
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr)
|
rs1060501588
|
0.00001
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)
|
rs372766122
|
0.00001
|
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg)
|
rs749933079
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys)
|
rs200765255
|
0.00001
|
NM_000051.4(ATM):c.3520T>G (p.Phe1174Val)
|
rs547400704
|
0.00001
|
NM_000051.4(ATM):c.3521T>C (p.Phe1174Ser)
|
rs1416574870
|
0.00001
|
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu)
|
rs1555091359
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu)
|
rs879254024
|
0.00001
|
NM_000051.4(ATM):c.3606A>G (p.Gly1202=)
|
rs1189826741
|
0.00001
|
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys)
|
rs1453849799
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.361T>A (p.Leu121Ile)
|
rs587782178
|
0.00001
|
NM_000051.4(ATM):c.3627T>C (p.Phe1209=)
|
rs762605020
|
0.00001
|
NM_000051.4(ATM):c.363A>C (p.Leu121Phe)
|
rs774555120
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.366T>C (p.Asn122=)
|
rs1178025248
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
NM_000051.4(ATM):c.3703C>T (p.Pro1235Ser)
|
rs779095853
|
0.00001
|
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser)
|
rs730881363
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000051.4(ATM):c.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp)
|
rs1180341161
|
0.00001
|
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=)
|
rs886039637
|
0.00001
|
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met)
|
rs765538231
|
0.00001
|
NM_000051.4(ATM):c.3771A>C (p.Pro1257=)
|
rs1057523320
|
0.00001
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp)
|
rs876660767
|
0.00001
|
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe)
|
rs2082378278
|
0.00001
|
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)
|
rs587781787
|
0.00001
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe)
|
rs876660770
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3918T>C (p.Ser1306=)
|
rs139632347
|
0.00001
|
NM_000051.4(ATM):c.3921G>A (p.Gly1307=)
|
rs969461745
|
0.00001
|
NM_000051.4(ATM):c.3951G>A (p.Lys1317=)
|
rs1485996895
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)
|
rs786203306
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg)
|
rs876658669
|
0.00001
|
NM_000051.4(ATM):c.3993+3A>G
|
rs771789242
|
0.00001
|
NM_000051.4(ATM):c.3994-159A>G
|
rs864622543
|
0.00001
|
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser)
|
rs1064793805
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4001A>G (p.His1334Arg)
|
rs780865776
|
0.00001
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn)
|
rs1060501660
|
0.00001
|
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly)
|
rs958750512
|
0.00001
|
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)
|
rs771166271
|
0.00001
|
NM_000051.4(ATM):c.4023A>T (p.Pro1341=)
|
rs1020202983
|
0.00001
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
0.00001
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
0.00001
|
NM_000051.4(ATM):c.4056T>C (p.His1352=)
|
rs587780622
|
0.00001
|
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)
|
rs767516955
|
0.00001
|
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly)
|
rs1176020475
|
0.00001
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4101C>T (p.Asp1367=)
|
rs587780623
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
NM_000051.4(ATM):c.4114T>C (p.Leu1372=)
|
rs762242838
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser)
|
rs749215545
|
0.00001
|
NM_000051.4(ATM):c.412G>A (p.Gly138Arg)
|
rs150661813
|
0.00001
|
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser)
|
rs1555096828
|
0.00001
|
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser)
|
rs55859590
|
0.00001
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
NM_000051.4(ATM):c.4151A>G (p.His1384Arg)
|
rs757172522
|
0.00001
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val)
|
rs786201832
|
0.00001
|
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)
|
rs776581499
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
NM_000051.4(ATM):c.4305G>A (p.Lys1435=)
|
rs763567469
|
0.00001
|
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu)
|
rs774886013
|
0.00001
|
NM_000051.4(ATM):c.432A>G (p.Ile144Met)
|
rs772173522
|
0.00001
|
NM_000051.4(ATM):c.433C>T (p.Leu145=)
|
rs587782328
|
0.00001
|
NM_000051.4(ATM):c.4356T>C (p.Asp1452=)
|
rs1283294799
|
0.00001
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
NM_000051.4(ATM):c.4359A>T (p.Ile1453=)
|
rs1213190389
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe)
|
rs765713557
|
0.00001
|
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)
|
rs142728382
|
0.00001
|
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys)
|
rs571989748
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4439C>T (p.Pro1480Leu)
|
rs200456625
|
0.00001
|
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe)
|
rs863224572
|
0.00001
|
NM_000051.4(ATM):c.4447A>G (p.Ile1483Val)
|
rs1281685502
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)
|
rs746296827
|
0.00001
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4500G>A (p.Gln1500=)
|
rs1345605814
|
0.00001
|
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile)
|
rs370574283
|
0.00001
|
NM_000051.4(ATM):c.450T>A (p.Leu150=)
|
rs1168425290
|
0.00001
|
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala)
|
rs767466937
|
0.00001
|
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)
|
rs540798997
|
0.00001
|
NM_000051.4(ATM):c.4518G>A (p.Val1506=)
|
rs1057524110
|
0.00001
|
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile)
|
rs1064793811
|
0.00001
|
NM_000051.4(ATM):c.4529A>G (p.Lys1510Arg)
|
rs1208799683
|
0.00001
|
NM_000051.4(ATM):c.4546C>T (p.His1516Tyr)
|
rs1389372050
|
0.00001
|
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe)
|
rs754058482
|
0.00001
|
NM_000051.4(ATM):c.4551T>A (p.Leu1517=)
|
rs1459998980
|
0.00001
|
NM_000051.4(ATM):c.4553A>C (p.His1518Pro)
|
rs762132832
|
0.00001
|
NM_000051.4(ATM):c.4559T>C (p.Ile1520Thr)
|
rs375654664
|
0.00001
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
0.00001
|
NM_000051.4(ATM):c.456G>T (p.Val152=)
|
rs1555059433
|
0.00001
|
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr)
|
rs755274980
|
0.00001
|
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr)
|
rs748898098
|
0.00001
|
NM_000051.4(ATM):c.4577C>A (p.Pro1526His)
|
rs770590652
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)
|
rs976206782
|
0.00001
|
NM_000051.4(ATM):c.4618G>T (p.Asp1540Tyr)
|
rs778622948
|
0.00001
|
NM_000051.4(ATM):c.4629A>G (p.Lys1543=)
|
rs745565564
|
0.00001
|
NM_000051.4(ATM):c.4630T>C (p.Tyr1544His)
|
rs771554153
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr)
|
rs1555100432
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu)
|
rs767981230
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn)
|
rs786203953
|
0.00001
|
NM_000051.4(ATM):c.4734G>A (p.Gln1578=)
|
rs754579737
|
0.00001
|
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)
|
rs786202473
|
0.00001
|
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)
|
rs769562370
|
0.00001
|
NM_000051.4(ATM):c.4770C>T (p.Leu1590=)
|
rs749475519
|
0.00001
|
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe)
|
rs1345760669
|
0.00001
|
NM_000051.4(ATM):c.4777-3T>C
|
rs1468242174
|
0.00001
|
NM_000051.4(ATM):c.4777-4T>C
|
rs756025941
|
0.00001
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr)
|
rs777812804
|
0.00001
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val)
|
rs746103632
|
0.00001
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
NM_000051.4(ATM):c.4822T>C (p.Leu1608=)
|
rs775464644
|
0.00001
|
NM_000051.4(ATM):c.4826C>G (p.Thr1609Arg)
|
rs1316363133
|
0.00001
|
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr)
|
rs2083038225
|
0.00001
|
NM_000051.4(ATM):c.4849C>G (p.Leu1617Val)
|
rs1006483748
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
NM_000051.4(ATM):c.4881G>T (p.Gln1627His)
|
rs1374689246
|
0.00001
|
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)
|
rs876660598
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
0.00001
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu)
|
rs752459491
|
0.00001
|
NM_000051.4(ATM):c.493T>C (p.Leu165=)
|
rs878853514
|
0.00001
|
NM_000051.4(ATM):c.4947C>T (p.Val1649=)
|
rs1436324961
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro)
|
rs1376280581
|
0.00001
|
NM_000051.4(ATM):c.497-4T>A
|
rs876659621
|
0.00001
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5006-3T>C
|
rs761297488
|
0.00001
|
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg)
|
rs1330898827
|
0.00001
|
NM_000051.4(ATM):c.5032G>A (p.Val1678Met)
|
rs1299754311
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu)
|
rs1183084231
|
0.00001
|
NM_000051.4(ATM):c.5055C>T (p.Thr1685=)
|
rs587780551
|
0.00001
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
NM_000051.4(ATM):c.5057T>C (p.Ile1686Thr)
|
rs878853517
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.506C>G (p.Ser169Cys)
|
rs587779843
|
0.00001
|
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn)
|
rs767841041
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser)
|
rs1291016764
|
0.00001
|
NM_000051.4(ATM):c.5136C>T (p.Phe1712=)
|
rs786203371
|
0.00001
|
NM_000051.4(ATM):c.5138T>C (p.Ile1713Thr)
|
rs1199544303
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)
|
rs786203254
|
0.00001
|
NM_000051.4(ATM):c.5164C>T (p.Leu1722=)
|
rs1255639252
|
0.00001
|
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)
|
rs770882126
|
0.00001
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
0.00001
|
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp)
|
rs1446243372
|
0.00001
|
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg)
|
rs1060501613
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5195C>G (p.Ala1732Gly)
|
rs1565476801
|
0.00001
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val)
|
rs1358200819
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.522C>G (p.Leu174=)
|
rs780173724
|
0.00001
|
NM_000051.4(ATM):c.5233A>C (p.Thr1745Pro)
|
rs587782532
|
0.00001
|
NM_000051.4(ATM):c.5250G>T (p.Trp1750Cys)
|
rs587779845
|
0.00001
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.526C>G (p.Leu176Val)
|
rs375798802
|
0.00001
|
NM_000051.4(ATM):c.5271A>G (p.Thr1757=)
|
rs1555105759
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)
|
rs1060504282
|
0.00001
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5320-4C>G
|
rs1316146972
|
0.00001
|
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)
|
rs768820804
|
0.00001
|
NM_000051.4(ATM):c.5324T>C (p.Leu1775Ser)
|
rs1256064321
|
0.00001
|
NM_000051.4(ATM):c.5335A>G (p.Arg1779Gly)
|
rs1176642734
|
0.00001
|
NM_000051.4(ATM):c.5345A>G (p.Lys1782Arg)
|
rs878853520
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5355T>G (p.Pro1785=)
|
rs1025083720
|
0.00001
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
NM_000051.4(ATM):c.5382G>A (p.Leu1794=)
|
rs188362115
|
0.00001
|
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)
|
rs769872474
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val)
|
rs199885813
|
0.00001
|
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn)
|
rs933604666
|
0.00001
|
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg)
|
rs562930561
|
0.00001
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg)
|
rs1565479465
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)
|
rs1034908940
|
0.00001
|
NM_000051.4(ATM):c.5524C>A (p.Leu1842Ile)
|
rs956546711
|
0.00001
|
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)
|
rs956546711
|
0.00001
|
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val)
|
rs587779849
|
0.00001
|
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)
|
rs146568734
|
0.00001
|
NM_000051.4(ATM):c.554T>C (p.Val185Ala)
|
rs730881335
|
0.00001
|
NM_000051.4(ATM):c.5553C>G (p.Leu1851=)
|
rs786201126
|
0.00001
|
NM_000051.4(ATM):c.5556A>G (p.Gln1852=)
|
rs1555107364
|
0.00001
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
NM_000051.4(ATM):c.5595T>C (p.His1865=)
|
rs772261410
|
0.00001
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu)
|
rs751327903
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
NM_000051.4(ATM):c.5640G>A (p.Thr1880=)
|
rs757103582
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5661A>G (p.Ala1887=)
|
rs876658939
|
0.00001
|
NM_000051.4(ATM):c.566G>C (p.Arg189Thr)
|
rs79075295
|
0.00001
|
NM_000051.4(ATM):c.5685C>A (p.His1895Gln)
|
rs889445709
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)
|
rs863224293
|
0.00001
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
NM_000051.4(ATM):c.5746A>G (p.Met1916Val)
|
rs910274159
|
0.00001
|
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)
|
rs1060501557
|
0.00001
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.5G>A (p.Ser2Asn)
|
rs730881360
|
0.00001
|
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)
|
rs747053710
|
0.00001
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
NM_000051.4(ATM):c.672G>T (p.Lys224Asn)
|
rs769731317
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
NM_000051.4(ATM):c.709A>G (p.Thr237Ala)
|
rs376529329
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.713T>C (p.Ile238Thr)
|
rs149116878
|
0.00001
|
NM_000051.4(ATM):c.717C>T (p.Phe239=)
|
rs779410490
|
0.00001
|
NM_000051.4(ATM):c.718C>T (p.Leu240Phe)
|
rs1210038351
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
NM_000051.4(ATM):c.754T>A (p.Cys252Ser)
|
rs863224580
|
0.00001
|
NM_000051.4(ATM):c.762A>G (p.Leu254=)
|
rs1313709939
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.787C>T (p.Leu263Phe)
|
rs876659531
|
0.00001
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
NM_000051.4(ATM):c.79G>A (p.Val27Ile)
|
rs754770960
|
0.00001
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.834C>T (p.Val278=)
|
rs2079769316
|
0.00001
|
NM_000051.4(ATM):c.839T>C (p.Ile280Thr)
|
rs587782080
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000051.4(ATM):c.86A>C (p.Lys29Thr)
|
rs147009251
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)
|
rs1044092081
|
0.00001
|
NM_000051.4(ATM):c.887A>C (p.Lys296Thr)
|
rs1064795297
|
0.00001
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
NM_000051.4(ATM):c.902-4A>G
|
rs1416161750
|
0.00001
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys)
|
rs1340280916
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000051.4(ATM):c.958G>A (p.Val320Met)
|
rs1060501655
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000051.4(ATM):c.976A>T (p.Ile326Leu)
|
rs1555068422
|
0.00001
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
NM_000051.4(ATM):c.989G>C (p.Gly330Ala)
|
rs762179829
|
0.00001
|
NM_000051.4(ATM):c.993G>A (p.Lys331=)
|
rs786202048
|
0.00001
|
NM_000051.4(ATM):c.996T>C (p.Tyr332=)
|
rs1476261420
|
0.00001
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.3(ATM):c.332_334delGAG
|
rs1060501621
|
|
NM_000051.3:c.2839-3insALU
|
|
|
NM_000051.3:c.2839-4_2839-3insL1
|
|
|
NM_000051.3:c.3167_3168insALU
|
|
|
NM_000051.3:c.3577-39_3577-38insALU
|
|
|
NM_000051.3:c.435_436insALU
|
|
|
NM_000051.3:c.4479_4480insL1
|
|
|
NM_000051.3:c.5770_5771insALU
|
|
|
NM_000051.3:c.5889_5890insALU
|
|
|
NM_000051.3:c.7374_7375insAlu
|
|
|
NM_000051.3:c.8010+30_8010+31insL1
|
|
|
NM_000051.3:c.8010+30insALU
|
|
|
NM_000051.3:c.919_920insALU
|
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.-3A>G
|
rs1591445631
|
|
NM_000051.4(ATM):c.-5G>A
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu)
|
rs1440510829
|
|
NM_000051.4(ATM):c.1004G>T (p.Gly335Val)
|
|
|
NM_000051.4(ATM):c.1006T>C (p.Phe336Leu)
|
rs1555068485
|
|
NM_000051.4(ATM):c.1008T>G (p.Phe336Leu)
|
rs1555068492
|
|
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser)
|
rs138398778
|
|
NM_000051.4(ATM):c.100A>G (p.Ile34Val)
|
rs1555054094
|
|
NM_000051.4(ATM):c.1010G>C (p.Arg337Pro)
|
|
|
NM_000051.4(ATM):c.1012A>C (p.Asn338His)
|
rs751800302
|
|
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp)
|
rs751800302
|
|
NM_000051.4(ATM):c.1015A>G (p.Ile339Val)
|
rs876659567
|
|
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr)
|
rs2079887536
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
NM_000051.4(ATM):c.1019C>A (p.Ala340Asp)
|
rs730881387
|
|
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly)
|
rs730881387
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.1020C>T (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg)
|
rs1064794119
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr)
|
rs587782526
|
|
NM_000051.4(ATM):c.1032T>C (p.Asn344=)
|
|
|
NM_000051.4(ATM):c.1036A>G (p.Ile346Val)
|
rs1565375699
|
|
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn)
|
rs1060501526
|
|
NM_000051.4(ATM):c.1038T>G (p.Ile346Met)
|
rs749950833
|
|
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu)
|
rs1555068567
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser)
|
rs2079890107
|
|
NM_000051.4(ATM):c.1044G>A (p.Leu348=)
|
rs879254039
|
|
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe)
|
rs879254039
|
|
NM_000051.4(ATM):c.1045A>G (p.Met349Val)
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr)
|
rs371713984
|
|
NM_000051.4(ATM):c.104G>T (p.Arg35Leu)
|
|
|
NM_000051.4(ATM):c.1050A>C (p.Ala350=)
|
rs1591511442
|
|
NM_000051.4(ATM):c.1050A>G (p.Ala350=)
|
rs1591511442
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1055T>A (p.Ile352Asn)
|
|
|
NM_000051.4(ATM):c.1056C>A (p.Ile352=)
|
|
|
NM_000051.4(ATM):c.1056C>G (p.Ile352Met)
|
rs1555068605
|
|
NM_000051.4(ATM):c.1056C>T (p.Ile352=)
|
rs1555068605
|
|
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs)
|
rs1591511511
|
|
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr)
|
rs1591511538
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1059T>C (p.Cys353=)
|
|
|
NM_000051.4(ATM):c.105A>C (p.Arg35=)
|
rs1060504270
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+3A>G
|
rs1282724169
|
|
NM_000051.4(ATM):c.1065+4C>T
|
rs1591511595
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-3C>G
|
rs1565378708
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1067T>C (p.Val356Ala)
|
|
|
NM_000051.4(ATM):c.1068T>C (p.Val356=)
|
rs1462038794
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
NM_000051.4(ATM):c.1073A>C (p.Asn358Thr)
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
NM_000051.4(ATM):c.1074T>C (p.Asn358=)
|
rs2135290159
|
|
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)
|
rs2079988487
|
|
NM_000051.4(ATM):c.1076A>G (p.Glu359Gly)
|
rs1555069537
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1077A>G (p.Glu359=)
|
|
|
NM_000051.4(ATM):c.1078G>A (p.Asp360Asn)
|
rs1591517212
|
|
NM_000051.4(ATM):c.1079A>T (p.Asp360Val)
|
rs775767808
|
|
NM_000051.4(ATM):c.107A>G (p.Asp36Gly)
|
rs1488019755
|
|
NM_000051.4(ATM):c.1083C>T (p.Thr361=)
|
rs1555069552
|
|
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly)
|
rs1591517251
|
|
NM_000051.4(ATM):c.1086A>G (p.Arg362=)
|
rs142591268
|
|
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)
|
rs1555069560
|
|
NM_000051.4(ATM):c.1089C>A (p.Ser363=)
|
|
|
NM_000051.4(ATM):c.1089C>T (p.Ser363=)
|
rs1555069567
|
|
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser)
|
rs1555069575
|
|
NM_000051.4(ATM):c.1092G>A (p.Leu364=)
|
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del)
|
rs878853481
|
|
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)
|
rs879254198
|
|
NM_000051.4(ATM):c.1098T>C (p.Ile366=)
|
|
|
NM_000051.4(ATM):c.1098T>G (p.Ile366Met)
|
|
|
NM_000051.4(ATM):c.109C>G (p.Pro37Ala)
|
|
|
NM_000051.4(ATM):c.10G>T (p.Val4Leu)
|
rs1438588853
|
|
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del)
|
rs2079990728
|
|
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)
|
|
|
NM_000051.4(ATM):c.1104A>C (p.Gln368His)
|
rs560691658
|
|
NM_000051.4(ATM):c.1104A>T (p.Gln368His)
|
rs560691658
|
|
NM_000051.4(ATM):c.1105T>C (p.Ser369Pro)
|
|
|
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)
|
rs762557654
|
|
NM_000051.4(ATM):c.1107T>C (p.Ser369=)
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.110C>G (p.Pro37Arg)
|
rs1591446947
|
|
NM_000051.4(ATM):c.110C>T (p.Pro37Leu)
|
rs1591446947
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)
|
rs1565378985
|
|
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser)
|
rs879254289
|
|
NM_000051.4(ATM):c.1113T>C (p.Thr371=)
|
rs1591517484
|
|
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile)
|
rs765912563
|
|
NM_000051.4(ATM):c.1116T>C (p.Thr372=)
|
rs371985921
|
|
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg)
|
rs876659275
|
|
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
|
|
|
NM_000051.4(ATM):c.1119A>T (p.Thr373=)
|
rs754889105
|
|
NM_000051.4(ATM):c.111T>G (p.Pro37=)
|
|
|
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1121A>C (p.Gln374Pro)
|
rs1555069640
|
|
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg)
|
rs1555069640
|
|
NM_000051.4(ATM):c.1122A>G (p.Gln374=)
|
rs1264315069
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1126G>A (p.Glu376Lys)
|
rs1555069657
|
|
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)
|
rs1555069657
|
|
NM_000051.4(ATM):c.1129T>A (p.Ser377Thr)
|
|
|
NM_000051.4(ATM):c.1129T>C (p.Ser377Pro)
|
rs876660620
|
|
NM_000051.4(ATM):c.112G>A (p.Glu38Lys)
|
rs1591446961
|
|
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys)
|
rs1555069665
|
|
NM_000051.4(ATM):c.1138T>C (p.Tyr380His)
|
|
|
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys)
|
rs786203855
|
|
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly)
|
rs786203602
|
|
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
|
|
|
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1143T>C (p.Ser381=)
|
rs755991658
|
|
NM_000051.4(ATM):c.1146C>T (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1149T>C (p.Pro383=)
|
rs786201409
|
|
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly)
|
rs2135293079
|
|
NM_000051.4(ATM):c.1153A>C (p.Lys385Gln)
|
|
|
NM_000051.4(ATM):c.1153A>G (p.Lys385Glu)
|
rs2079996194
|
|
NM_000051.4(ATM):c.1155A>G (p.Lys385=)
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln)
|
rs786202686
|
|
NM_000051.4(ATM):c.1159A>G (p.Lys387Glu)
|
rs786202686
|
|
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg)
|
rs876659755
|
|
NM_000051.4(ATM):c.1161G>A (p.Lys387=)
|
rs786202369
|
|
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu)
|
rs876659570
|
|
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg)
|
rs1060501618
|
|
NM_000051.4(ATM):c.1165A>G (p.Ile389Val)
|
rs1060501704
|
|
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr)
|
rs757486696
|
|
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys)
|
rs876660106
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
NM_000051.4(ATM):c.116C>G (p.Thr39Arg)
|
rs1555054109
|
|
NM_000051.4(ATM):c.116C>T (p.Thr39Ile)
|
|
|
NM_000051.4(ATM):c.1170A>G (p.Glu390=)
|
rs2135293693
|
|
NM_000051.4(ATM):c.1175G>T (p.Gly392Val)
|
rs779035681
|
|
NM_000051.4(ATM):c.1176C>T (p.Gly392=)
|
rs1800727
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
NM_000051.4(ATM):c.1179G>C (p.Trp393Cys)
|
rs876658567
|
|
NM_000051.4(ATM):c.1179G>T (p.Trp393Cys)
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1183G>A (p.Val395Ile)
|
|
|
NM_000051.4(ATM):c.1183G>T (p.Val395Leu)
|
|
|
NM_000051.4(ATM):c.1184T>C (p.Val395Ala)
|
rs1591517993
|
|
NM_000051.4(ATM):c.1184_1197delinsGTGAT (p.Val395_His399delinsGlyAsp)
|
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
NM_000051.4(ATM):c.1188A>G (p.Ile396Met)
|
rs1565379417
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
NM_000051.4(ATM):c.1194T>C (p.Asp398=)
|
rs551872656
|
|
NM_000051.4(ATM):c.1196A>G (p.His399Arg)
|
rs1565379486
|
|
NM_000051.4(ATM):c.119_122del (p.Ile40fs)
|
rs876659116
|
|
NM_000051.4(ATM):c.11T>C (p.Val4Ala)
|
rs1555053873
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr)
|
rs1591518138
|
|
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu)
|
rs747563556
|
|
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)
|
rs730881340
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly)
|
rs587781582
|
|
NM_000051.4(ATM):c.1224dup (p.Leu409fs)
|
|
|
NM_000051.4(ATM):c.1225C>G (p.Leu409Val)
|
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
NM_000051.4(ATM):c.1228_1229insCGCCT (p.Val410fs)
|
|
|
NM_000051.4(ATM):c.1230G>A (p.Val410=)
|
rs1555069869
|
|
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs)
|
rs1591518293
|
|
NM_000051.4(ATM):c.1233T>G (p.Pro411=)
|
rs1591518323
|
|
NM_000051.4(ATM):c.1235+3A>T
|
|
|
NM_000051.4(ATM):c.1235+4A>G
|
rs786203147
|
|
NM_000051.4(ATM):c.1235+4A>T
|
rs786203147
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1236-1G>C
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1236-3T>A
|
rs763976313
|
|
NM_000051.4(ATM):c.1236-3_1236-2del
|
rs587782572
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-5T>C
|
rs1591522569
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1242G>T (p.Gln414His)
|
rs786203667
|
|
NM_000051.4(ATM):c.1245T>G (p.Ile415Met)
|
rs1060501554
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
NM_000051.4(ATM):c.124C>A (p.His42Asn)
|
rs1591447034
|
|
NM_000051.4(ATM):c.1250C>T (p.Thr417Ile)
|
|
|
NM_000051.4(ATM):c.1251C>G (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1251C>T (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1260A>C (p.Ile420=)
|
rs750468699
|
|
NM_000051.4(ATM):c.1260A>G (p.Ile420Met)
|
|
|
NM_000051.4(ATM):c.1261_1263del (p.Ser421del)
|
rs1555070666
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
NM_000051.4(ATM):c.1263A>G (p.Ser421=)
|
rs1060504285
|
|
NM_000051.4(ATM):c.1264A>G (p.Lys422Glu)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.126T>G (p.His42Gln)
|
rs587781661
|
|
NM_000051.4(ATM):c.1270C>A (p.Pro424Thr)
|
rs1591522957
|
|
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala)
|
rs1591522957
|
|
NM_000051.4(ATM):c.1272T>G (p.Pro424=)
|
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
NM_000051.4(ATM):c.1274C>T (p.Ala425Val)
|
rs1301649540
|
|
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)
|
rs1591523010
|
|
NM_000051.4(ATM):c.1275A>G (p.Ala425=)
|
rs1591523031
|
|
NM_000051.4(ATM):c.1275A>T (p.Ala425=)
|
|
|
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn)
|
rs1350528190
|
|
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)
|
rs772591447
|
|
NM_000051.4(ATM):c.1283C>T (p.Pro428Leu)
|
|
|
NM_000051.4(ATM):c.1287C>A (p.Asn429Lys)
|
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1294_1306delinsA (p.Leu432_Leu436delinsMet)
|
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.1296G>C (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1296G>T (p.Leu432=)
|
|
|
NM_000051.4(ATM):c.1299T>G (p.Ser433=)
|
rs1565382118
|
|
NM_000051.4(ATM):c.12A>G (p.Val4=)
|
rs786201365
|
|
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1300C>T (p.Pro434Ser)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1307T>G (p.Leu436Arg)
|
|
|
NM_000051.4(ATM):c.1308G>T (p.Leu436=)
|
|
|
NM_000051.4(ATM):c.1312A>G (p.Ile438Val)
|
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.1318T>C (p.Ser440Pro)
|
|
|
NM_000051.4(ATM):c.1320T>A (p.Ser440=)
|
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe)
|
rs1060501574
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys)
|
rs587782121
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
NM_000051.4(ATM):c.133C>A (p.Arg45=)
|
rs3218684
|
|
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)
|
rs760676955
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
NM_000051.4(ATM):c.1347G>A (p.Gly449=)
|
rs1591523440
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
NM_000051.4(ATM):c.1350A>G (p.Glu450=)
|
rs2135319715
|
|
NM_000051.4(ATM):c.1352G>C (p.Arg451Pro)
|
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1356A>G (p.Thr452=)
|
rs1555070803
|
|
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu)
|
rs786204124
|
|
NM_000051.4(ATM):c.1358dup (p.Tyr454fs)
|
rs1555070805
|
|
NM_000051.4(ATM):c.1359A>G (p.Pro453=)
|
rs786203693
|
|
NM_000051.4(ATM):c.135G>A (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>C (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>T (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135dup (p.His46fs)
|
rs1591447147
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)
|
rs780097986
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
NM_000051.4(ATM):c.1372T>C (p.Cys458Arg)
|
rs876660619
|
|
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr)
|
rs1064796013
|
|
NM_000051.4(ATM):c.1374C>T (p.Cys458=)
|
rs2135320531
|
|
NM_000051.4(ATM):c.1375C>G (p.Leu459Val)
|
rs1064794635
|
|
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)
|
rs587782729
|
|
NM_000051.4(ATM):c.1379C>A (p.Thr460Lys)
|
|
|
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg)
|
rs587781841
|
|
NM_000051.4(ATM):c.1380G>A (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1381G>T (p.Glu461Ter)
|
|
|
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly)
|
rs2080102342
|
|
NM_000051.4(ATM):c.1384G>A (p.Val462Ile)
|
|
|
NM_000051.4(ATM):c.1385T>C (p.Val462Ala)
|
rs1555070869
|
|
NM_000051.4(ATM):c.1386T>A (p.Val462=)
|
rs1591523725
|
|
NM_000051.4(ATM):c.138T>G (p.His46Gln)
|
rs770834907
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe)
|
rs760191806
|
|
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser)
|
rs1555070888
|
|
NM_000051.4(ATM):c.1394_1395del (p.Cys465fs)
|
rs876659866
|
|
NM_000051.4(ATM):c.1395T>G (p.Cys465Trp)
|
rs1240144277
|
|
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)
|
rs876660485
|
|
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg)
|
rs770028453
|
|
NM_000051.4(ATM):c.139T>G (p.Ser47Ala)
|
|
|
NM_000051.4(ATM):c.1401dup (p.Lys468fs)
|
|
|
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu)
|
rs876660820
|
|
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg)
|
rs1060501628
|
|
NM_000051.4(ATM):c.1404G>A (p.Lys468=)
|
rs2135321676
|
|
NM_000051.4(ATM):c.1405A>C (p.Arg469=)
|
|
|
NM_000051.4(ATM):c.1406G>C (p.Arg469Thr)
|
|
|
NM_000051.4(ATM):c.1407G>T (p.Arg469Ser)
|
|
|
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)
|
rs1591523878
|
|
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu)
|
rs1591523878
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
NM_000051.4(ATM):c.140C>T (p.Ser47Leu)
|
|
|
NM_000051.4(ATM):c.1410A>C (p.Ser470=)
|
rs939650649
|
|
NM_000051.4(ATM):c.1411A>C (p.Asn471His)
|
rs2080104786
|
|
NM_000051.4(ATM):c.1414C>T (p.Leu472=)
|
|
|
NM_000051.4(ATM):c.1416A>C (p.Leu472=)
|
|
|
NM_000051.4(ATM):c.1416A>G (p.Leu472=)
|
rs786201691
|
|
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys)
|
rs1565382834
|
|
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs)
|
rs2080105212
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
NM_000051.4(ATM):c.1424C>G (p.Ser475Ter)
|
rs786203550
|
|
NM_000051.4(ATM):c.1426C>G (p.Gln476Glu)
|
|
|
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)
|
rs1397399631
|
|
NM_000051.4(ATM):c.1428A>G (p.Gln476=)
|
rs745509434
|
|
NM_000051.4(ATM):c.142G>T (p.Asp48Tyr)
|
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1431_1432delinsTTTATTAAAGCTCA (p.Lys477_Ser478delinsAsnLeuLeuLysLeuThr)
|
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr)
|
rs1555070953
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs)
|
rs876658651
|
|
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
|
|
|
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)
|
rs753808755
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys)
|
rs1385019623
|
|
NM_000051.4(ATM):c.1457A>C (p.Lys486Thr)
|
|
|
NM_000051.4(ATM):c.145T>A (p.Ser49Thr)
|
rs2135013712
|
|
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly)
|
rs1591524158
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)
|
rs761850075
|
|
NM_000051.4(ATM):c.1469T>C (p.Ile490Thr)
|
rs1565383172
|
|
NM_000051.4(ATM):c.146C>T (p.Ser49Phe)
|
rs1800054
|
|
NM_000051.4(ATM):c.1473C>T (p.Thr491=)
|
rs764937436
|
|
NM_000051.4(ATM):c.1475T>C (p.Phe492Ser)
|
rs1555071017
|
|
NM_000051.4(ATM):c.1476dup (p.Arg493fs)
|
rs1565383194
|
|
NM_000051.4(ATM):c.1479T>C (p.Arg493=)
|
|
|
NM_000051.4(ATM):c.147C>T (p.Ser49=)
|
rs876660033
|
|
NM_000051.4(ATM):c.1481G>T (p.Gly494Val)
|
rs786202233
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile)
|
rs778890679
|
|
NM_000051.4(ATM):c.1488T>G (p.Ser496Arg)
|
|
|
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr)
|
rs1375637948
|
|
NM_000051.4(ATM):c.148A>C (p.Lys50Gln)
|
rs1591447239
|
|
NM_000051.4(ATM):c.1491T>A (p.Ser497=)
|
rs1555071057
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
|
|
|
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
NM_000051.4(ATM):c.1503A>G (p.Gln501=)
|
rs786203736
|
|
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
|
|
|
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp)
|
rs2135325176
|
|
NM_000051.4(ATM):c.1512C>T (p.Asn504=)
|
|
|
NM_000051.4(ATM):c.1512del (p.Phe505fs)
|
rs1555071103
|
|
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1514T>G (p.Phe505Cys)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1518C>T (p.Gly506=)
|
rs864622528
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
NM_000051.4(ATM):c.1521A>G (p.Leu507=)
|
rs2135325598
|
|
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe)
|
rs1011518082
|
|
NM_000051.4(ATM):c.1524T>C (p.Leu508=)
|
rs559095379
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1526G>A (p.Gly509Glu)
|
rs1591524556
|
|
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr)
|
rs1555071138
|
|
NM_000051.4(ATM):c.1531A>G (p.Ile511Val)
|
rs1591524572
|
|
NM_000051.4(ATM):c.1534A>G (p.Ile512Val)
|
rs876658180
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
NM_000051.4(ATM):c.1537del (p.Gln513fs)
|
rs1591524613
|
|
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro)
|
rs753109010
|
|
NM_000051.4(ATM):c.1538A>G (p.Gln513Arg)
|
rs753109010
|
|
NM_000051.4(ATM):c.1538A>T (p.Gln513Leu)
|
rs753109010
|
|
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys)
|
rs1591524652
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
NM_000051.4(ATM):c.1543A>G (p.Ser515Gly)
|
rs2135326489
|
|
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)
|
rs786202195
|
|
NM_000051.4(ATM):c.1549G>T (p.Val517Phe)
|
rs2080117236
|
|
NM_000051.4(ATM):c.154G>A (p.Gly52Arg)
|
rs730881362
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1550T>A (p.Val517Asp)
|
rs777986229
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn)
|
rs2080118143
|
|
NM_000051.4(ATM):c.1560C>T (p.Asp520=)
|
rs1591524777
|
|
NM_000051.4(ATM):c.1563A>G (p.Arg521=)
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1565A>G (p.Glu522Gly)
|
rs1254907954
|
|
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
|
|
|
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser)
|
rs768038315
|
|
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
|
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
NM_000051.4(ATM):c.1570T>A (p.Trp524Arg)
|
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
NM_000051.4(ATM):c.1574A>C (p.Lys525Thr)
|
rs1591524835
|
|
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn)
|
rs587780613
|
|
NM_000051.4(ATM):c.1578A>G (p.Leu526=)
|
rs1591524857
|
|
NM_000051.4(ATM):c.1579T>A (p.Phe527Ile)
|
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
NM_000051.4(ATM):c.157A>G (p.Lys53Glu)
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.1580T>C (p.Phe527Ser)
|
|
|
NM_000051.4(ATM):c.1581T>C (p.Phe527=)
|
rs1555071227
|
|
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)
|
rs876658647
|
|
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
|
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
NM_000051.4(ATM):c.1585G>A (p.Gly529Arg)
|
|
|
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu)
|
rs1555071242
|
|
NM_000051.4(ATM):c.1586G>C (p.Gly529Ala)
|
|
|
NM_000051.4(ATM):c.1587G>A (p.Gly529=)
|
rs1060504276
|
|
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro)
|
rs876660941
|
|
NM_000051.4(ATM):c.1592C>T (p.Ala531Val)
|
rs1591524927
|
|
NM_000051.4(ATM):c.1595delinsTA (p.Cys532fs)
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
NM_000051.4(ATM):c.159A>G (p.Lys53=)
|
rs1060504281
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)
|
rs587782212
|
|
NM_000051.4(ATM):c.1602T>A (p.Pro534=)
|
|
|
NM_000051.4(ATM):c.1602T>C (p.Pro534=)
|
rs1555071275
|
|
NM_000051.4(ATM):c.1605A>C (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1605A>G (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg)
|
rs2135328461
|
|
NM_000051.4(ATM):c.1607+162A>G
|
|
|
NM_000051.4(ATM):c.1607+1del
|
|
|
NM_000051.4(ATM):c.1607+3A>G
|
rs2080122454
|
|
NM_000051.4(ATM):c.1607+5G>A
|
rs766535949
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1608-4A>G
|
rs2080162473
|
|
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser)
|
rs1165590160
|
|
NM_000051.4(ATM):c.1610C>A (p.Pro537His)
|
rs587782463
|
|
NM_000051.4(ATM):c.1612G>C (p.Ala538Pro)
|
rs2080163261
|
|
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu)
|
rs2080163350
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
|
|
|
NM_000051.4(ATM):c.1620C>T (p.Cys540=)
|
rs1555071676
|
|
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr)
|
rs1555071682
|
|
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser)
|
rs1555071682
|
|
NM_000051.4(ATM):c.1624T>G (p.Leu542Val)
|
rs587781366
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
|
|
|
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile)
|
rs772874616
|
|
NM_000051.4(ATM):c.1635A>C (p.Ala545=)
|
rs1555071712
|
|
NM_000051.4(ATM):c.1635A>G (p.Ala545=)
|
rs1555071712
|
|
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1638G>C (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1638G>T (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1639A>G (p.Thr547Ala)
|
rs1591527306
|
|
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile)
|
rs786203572
|
|
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)
|
rs878853486
|
|
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs)
|
rs1591527327
|
|
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
|
|
|
NM_000051.4(ATM):c.1644del (p.Ser549fs)
|
rs1591527355
|
|
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn)
|
rs2080166953
|
|
NM_000051.4(ATM):c.1647T>C (p.Ser549=)
|
|
|
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg)
|
rs864622285
|
|
NM_000051.4(ATM):c.164T>G (p.Leu55Trp)
|
rs1565344888
|
|
NM_000051.4(ATM):c.1650A>C (p.Ile550=)
|
|
|
NM_000051.4(ATM):c.1650A>G (p.Ile550Met)
|
rs1060501606
|
|
NM_000051.4(ATM):c.1650A>T (p.Ile550=)
|
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1653T>C (p.Val551=)
|
|
|
NM_000051.4(ATM):c.1656A>C (p.Pro552=)
|
|
|
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg)
|
rs1591527438
|
|
NM_000051.4(ATM):c.165G>C (p.Leu55Phe)
|
rs1555054230
|
|
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro)
|
rs1060788
|
|
NM_000051.4(ATM):c.1660A>G (p.Thr554Ala)
|
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1662G>C (p.Thr554=)
|
rs764646531
|
|
NM_000051.4(ATM):c.1665A>G (p.Val555=)
|
rs754367168
|
|
NM_000051.4(ATM):c.1669A>G (p.Met557Val)
|
rs1427517965
|
|
NM_000051.4(ATM):c.1670T>C (p.Met557Thr)
|
rs786202770
|
|
NM_000051.4(ATM):c.1670T>G (p.Met557Arg)
|
rs786202770
|
|
NM_000051.4(ATM):c.1672G>A (p.Gly558Arg)
|
|
|
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
|
|
|
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
|
|
|
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1673G>T (p.Gly558Val)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
NM_000051.4(ATM):c.1678G>A (p.Glu560Lys)
|
|
|
NM_000051.4(ATM):c.1680G>A (p.Glu560=)
|
rs1555071815
|
|
NM_000051.4(ATM):c.1682A>C (p.Gln561Pro)
|
|
|
NM_000051.4(ATM):c.1683A>G (p.Gln561=)
|
rs876660110
|
|
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
|
|
|
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile)
|
rs368209025
|
|
NM_000051.4(ATM):c.1686T>C (p.Asn562=)
|
rs1131691152
|
|
NM_000051.4(ATM):c.1688T>C (p.Met563Thr)
|
|
|
NM_000051.4(ATM):c.1689G>A (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689G>C (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689G>T (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689del (p.Met563fs)
|
|
|
NM_000051.4(ATM):c.168T>G (p.Asn56Lys)
|
rs1591447362
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys)
|
rs2080171822
|
|
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
|
|
|
NM_000051.4(ATM):c.1698A>G (p.Val566=)
|
rs2135341613
|
|
NM_000051.4(ATM):c.169T>C (p.Trp57Arg)
|
rs1555054238
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.1701T>C (p.Asn567=)
|
rs878853487
|
|
NM_000051.4(ATM):c.1702del (p.Arg568fs)
|
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)
|
rs878853488
|
|
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)
|
|
|
NM_000051.4(ATM):c.1707C>A (p.Ser569Arg)
|
|
|
NM_000051.4(ATM):c.1707C>G (p.Ser569Arg)
|
|
|
NM_000051.4(ATM):c.1712C>A (p.Ser571Tyr)
|
|
|
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile)
|
rs749216212
|
|
NM_000051.4(ATM):c.1714T>G (p.Leu572Val)
|
rs749216212
|
|
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
|
|
|
NM_000051.4(ATM):c.171G>T (p.Trp57Cys)
|
rs1555054249
|
|
NM_000051.4(ATM):c.1720G>C (p.Glu574Gln)
|
rs770911276
|
|
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp)
|
rs372334891
|
|
NM_000051.4(ATM):c.1722A>G (p.Glu574=)
|
rs372334891
|
|
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)
|
rs1565385720
|
|
NM_000051.4(ATM):c.1723T>C (p.Ser575Pro)
|
|
|
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)
|
rs2135342200
|
|
NM_000051.4(ATM):c.1727T>A (p.Ile576Lys)
|
|
|
NM_000051.4(ATM):c.1729A>G (p.Met577Val)
|
rs1555071919
|
|
NM_000051.4(ATM):c.172G>A (p.Asp58Asn)
|
rs876660661
|
|
NM_000051.4(ATM):c.172G>C (p.Asp58His)
|
rs876660661
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.1730T>C (p.Met577Thr)
|
rs1591527919
|
|
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
|
|
|
NM_000051.4(ATM):c.1731G>T (p.Met577Ile)
|
|
|
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln)
|
rs1555071926
|
|
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg)
|
rs1266358260
|
|
NM_000051.4(ATM):c.1734A>G (p.Lys578=)
|
rs1555071939
|
|
NM_000051.4(ATM):c.1734A>T (p.Lys578Asn)
|
rs1555071939
|
|
NM_000051.4(ATM):c.1735T>C (p.Trp579Arg)
|
rs1591527984
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe)
|
rs1555071952
|
|
NM_000051.4(ATM):c.173A>G (p.Asp58Gly)
|
rs1378701359
|
|
NM_000051.4(ATM):c.1740C>G (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1740C>T (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs)
|
rs1131691151
|
|
NM_000051.4(ATM):c.1745_1746insTAAATGGCTCTTATT (p.Phe582_Tyr583insLysTrpLeuLeuPhe)
|
|
|
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu)
|
rs145629926
|
|
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser)
|
rs587780614
|
|
NM_000051.4(ATM):c.1751A>C (p.Gln584Pro)
|
rs876660149
|
|
NM_000051.4(ATM):c.1751A>G (p.Gln584Arg)
|
rs876660149
|
|
NM_000051.4(ATM):c.1752G>T (p.Gln584His)
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1757A>T (p.Glu586Val)
|
rs587781907
|
|
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)
|
rs1555072017
|
|
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser)
|
rs879254227
|
|
NM_000051.4(ATM):c.1761T>C (p.Gly587=)
|
|
|
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)
|
rs2080177696
|
|
NM_000051.4(ATM):c.1764C>T (p.Asp588=)
|
|
|
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter)
|
rs876659283
|
|
NM_000051.4(ATM):c.176C>T (p.Ala59Val)
|
rs760880388
|
|
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly)
|
rs1060501558
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
NM_000051.4(ATM):c.1776C>A (p.Ser592Arg)
|
rs1057524304
|
|
NM_000051.4(ATM):c.1779A>C (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1779A>G (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1780G>A (p.Glu594Lys)
|
|
|
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
|
|
|
NM_000051.4(ATM):c.1782A>G (p.Glu594=)
|
rs876660494
|
|
NM_000051.4(ATM):c.1783_1802+91del
|
rs1555072063
|
|
NM_000051.4(ATM):c.1788T>C (p.Pro596=)
|
|
|
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala)
|
rs1555072070
|
|
NM_000051.4(ATM):c.1789C>T (p.Pro597Ser)
|
|
|
NM_000051.4(ATM):c.178G>C (p.Val60Leu)
|
rs1166668199
|
|
NM_000051.4(ATM):c.1790C>A (p.Pro597Gln)
|
|
|
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu)
|
rs730881343
|
|
NM_000051.4(ATM):c.1793T>C (p.Ile598Thr)
|
rs1591528409
|
|
NM_000051.4(ATM):c.1794T>C (p.Ile598=)
|
rs786201830
|
|
NM_000051.4(ATM):c.1798C>A (p.His600Asn)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1799A>G (p.His600Arg)
|
rs2080180530
|
|
NM_000051.4(ATM):c.1799_1802+5del
|
rs781244480
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly)
|
rs1591528484
|
|
NM_000051.4(ATM):c.1802+3A>G
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802+3A>T
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802+5T>C
|
|
|
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn)
|
rs763402339
|
|
NM_000051.4(ATM):c.1803-1G>A
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1803-4G>A
|
rs876659300
|
|
NM_000051.4(ATM):c.1803-5T>C
|
rs786203034
|
|
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp)
|
rs2080226309
|
|
NM_000051.4(ATM):c.180T>G (p.Val60=)
|
rs786201375
|
|
NM_000051.4(ATM):c.1811del (p.Pro604fs)
|
|
|
NM_000051.4(ATM):c.1813C>T (p.His605Tyr)
|
rs786202928
|
|
NM_000051.4(ATM):c.1821A>G (p.Val607=)
|
rs876660362
|
|
NM_000051.4(ATM):c.1822C>T (p.Leu608=)
|
rs1591530779
|
|
NM_000051.4(ATM):c.1824G>A (p.Leu608=)
|
|
|
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys)
|
rs779780896
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
NM_000051.4(ATM):c.1828A>G (p.Lys610Glu)
|
|
|
NM_000051.4(ATM):c.182T>C (p.Phe61Ser)
|
rs786203063
|
|
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
|
|
|
NM_000051.4(ATM):c.1834C>G (p.Leu612Val)
|
rs747242300
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
NM_000051.4(ATM):c.1835T>A (p.Leu612His)
|
rs1555072474
|
|
NM_000051.4(ATM):c.1836T>A (p.Leu612=)
|
rs1309539769
|
|
NM_000051.4(ATM):c.1837G>A (p.Val613Met)
|
rs200124136
|
|
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)
|
rs1591530854
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
NM_000051.4(ATM):c.1843C>T (p.Leu615Phe)
|
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.1846A>G (p.Thr616Ala)
|
rs587780615
|
|
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
|
|
|
NM_000051.4(ATM):c.1847dup (p.Met617fs)
|
rs1591530991
|
|
NM_000051.4(ATM):c.1848T>C (p.Thr616=)
|
rs1045549048
|
|
NM_000051.4(ATM):c.1849A>G (p.Met617Val)
|
rs1555072530
|
|
NM_000051.4(ATM):c.184A>G (p.Arg62Gly)
|
rs876659407
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.185+4T>G
|
rs1060501685
|
|
NM_000051.4(ATM):c.1852A>G (p.Lys618Glu)
|
rs1555072538
|
|
NM_000051.4(ATM):c.1856A>C (p.Asn619Thr)
|
|
|
NM_000051.4(ATM):c.1856A>G (p.Asn619Ser)
|
rs1591531036
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
NM_000051.4(ATM):c.185G>A (p.Arg62Lys)
|
|
|
NM_000051.4(ATM):c.186-1G>T
|
|
|
NM_000051.4(ATM):c.186-1del
|
|
|
NM_000051.4(ATM):c.1862A>G (p.Lys621Arg)
|
rs1591531052
|
|
NM_000051.4(ATM):c.1869A>G (p.Ala623=)
|
rs1591531055
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1870A>C (p.Met624Leu)
|
rs863224557
|
|
NM_000051.4(ATM):c.1874A>G (p.Asn625Ser)
|
|
|
NM_000051.4(ATM):c.1876T>G (p.Phe626Val)
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1881C>T (p.Phe627=)
|
rs1555072574
|
|
NM_000051.4(ATM):c.1884A>G (p.Gln628=)
|
rs1555072578
|
|
NM_000051.4(ATM):c.1889T>C (p.Val630Ala)
|
rs587782226
|
|
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu)
|
rs756782634
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1898+4T>A
|
rs1591531225
|
|
NM_000051.4(ATM):c.1899-1G>T
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-20A>C
|
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.1899-3A>G
|
rs1555073062
|
|
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp)
|
rs1040176168
|
|
NM_000051.4(ATM):c.189T>C (p.Phe63=)
|
rs926466183
|
|
NM_000051.4(ATM):c.18T>C (p.Asn6=)
|
rs876659088
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
|
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
NM_000051.4(ATM):c.1906C>T (p.His636Tyr)
|
rs786203654
|
|
NM_000051.4(ATM):c.1906del (p.His636fs)
|
|
|
NM_000051.4(ATM):c.1908C>T (p.His636=)
|
rs2135365854
|
|
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
|
|
|
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)
|
rs1565389611
|
|
NM_000051.4(ATM):c.1912A>C (p.Lys638Gln)
|
|
|
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn)
|
rs587781753
|
|
NM_000051.4(ATM):c.1914A>T (p.Lys638Asn)
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1915G>C (p.Asp639His)
|
rs1591533828
|
|
NM_000051.4(ATM):c.1916A>G (p.Asp639Gly)
|
rs1591533846
|
|
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu)
|
rs879254190
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
NM_000051.4(ATM):c.1923A>G (p.Glu641=)
|
rs2135366297
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp)
|
rs786201469
|
|
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
|
|
|
NM_000051.4(ATM):c.1928T>C (p.Leu643Pro)
|
rs1591533931
|
|
NM_000051.4(ATM):c.1929T>A (p.Leu643=)
|
rs876659911
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr)
|
rs1555073128
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
|
|
|
NM_000051.4(ATM):c.1935C>T (p.Phe645=)
|
rs876659709
|
|
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter)
|
rs1591534005
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys)
|
rs1060501599
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
NM_000051.4(ATM):c.1941A>T (p.Glu647Asp)
|
|
|
NM_000051.4(ATM):c.1944A>C (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1944A>G (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys)
|
rs786202511
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
NM_000051.4(ATM):c.1949A>C (p.Glu650Ala)
|
|
|
NM_000051.4(ATM):c.194A>C (p.Gln65Pro)
|
rs760471526
|
|
NM_000051.4(ATM):c.194A>G (p.Gln65Arg)
|
rs760471526
|
|
NM_000051.4(ATM):c.1951C>G (p.Leu651Val)
|
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
NM_000051.4(ATM):c.1952T>C (p.Leu651Pro)
|
rs1555073179
|
|
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)
|
rs1565389902
|
|
NM_000051.4(ATM):c.1956T>G (p.Phe652Leu)
|
rs587782544
|
|
NM_000051.4(ATM):c.1957C>A (p.Leu653Ile)
|
|
|
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)
|
|
|
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)
|
rs528165789
|
|
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile)
|
rs2080299187
|
|
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile)
|
rs754800755
|
|
NM_000051.4(ATM):c.1968T>C (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.1968T>G (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1973A>T (p.Asp658Val)
|
rs1177954052
|
|
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
|
|
|
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)
|
rs1565390043
|
|
NM_000051.4(ATM):c.1976del (p.Lys659fs)
|
|
|
NM_000051.4(ATM):c.1978dup (p.Met660fs)
|
rs1555073243
|
|
NM_000051.4(ATM):c.1979T>C (p.Met660Thr)
|
rs1298234172
|
|
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
|
|
|
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn)
|
rs1029931261
|
|
NM_000051.4(ATM):c.1981G>C (p.Asp661His)
|
rs1029931261
|
|
NM_000051.4(ATM):c.1982A>G (p.Asp661Gly)
|
|
|
NM_000051.4(ATM):c.1983C>T (p.Asp661=)
|
rs2080301965
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
NM_000051.4(ATM):c.198A>T (p.Lys66Asn)
|
rs540920248
|
|
NM_000051.4(ATM):c.1990A>G (p.Thr664Ala)
|
rs797045319
|
|
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu)
|
rs1060501645
|
|
NM_000051.4(ATM):c.1993A>G (p.Ile665Val)
|
rs1060501645
|
|
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr)
|
rs1064793789
|
|
NM_000051.4(ATM):c.1998G>A (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.1998G>C (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.1999A>G (p.Arg667Gly)
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2000G>A (p.Arg667Lys)
|
|
|
NM_000051.4(ATM):c.2002G>A (p.Glu668Lys)
|
rs876659808
|
|
NM_000051.4(ATM):c.2006G>A (p.Cys669Tyr)
|
|
|
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp)
|
rs887944555
|
|
NM_000051.4(ATM):c.2009G>C (p.Gly670Ala)
|
rs887944555
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln)
|
rs2080305905
|
|
NM_000051.4(ATM):c.2018dup (p.His674fs)
|
|
|
NM_000051.4(ATM):c.2019_2020insGACAAG (p.Lys673_His674insAspLys)
|
rs876659686
|
|
NM_000051.4(ATM):c.201T>C (p.Tyr67=)
|
rs1555055083
|
|
NM_000051.4(ATM):c.2020C>T (p.His674Tyr)
|
|
|
NM_000051.4(ATM):c.2022C>A (p.His674Gln)
|
rs2080306836
|
|
NM_000051.4(ATM):c.2022C>G (p.His674Gln)
|
rs2080306836
|
|
NM_000051.4(ATM):c.2025G>A (p.Gln675=)
|
|
|
NM_000051.4(ATM):c.2025del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2028C>T (p.Ser676=)
|
rs375196053
|
|
NM_000051.4(ATM):c.2029A>G (p.Ser677Gly)
|
rs568026188
|
|
NM_000051.4(ATM):c.202_203del (p.Ile68fs)
|
|
|
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)
|
rs2080308052
|
|
NM_000051.4(ATM):c.2031T>C (p.Ser677=)
|
rs1591534580
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
NM_000051.4(ATM):c.2037C>T (p.Gly679=)
|
|
|
NM_000051.4(ATM):c.203T>C (p.Ile68Thr)
|
rs1591451502
|
|
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2043T>A (p.Ser681=)
|
rs746422877
|
|
NM_000051.4(ATM):c.2045T>C (p.Val682Ala)
|
|
|
NM_000051.4(ATM):c.2046C>A (p.Val682=)
|
rs1591534664
|
|
NM_000051.4(ATM):c.204T>G (p.Ile68Met)
|
rs2078883151
|
|
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter)
|
rs1060501691
|
|
NM_000051.4(ATM):c.2053A>C (p.Asn685His)
|
|
|
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser)
|
rs1412443702
|
|
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile)
|
rs1412443702
|
|
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile)
|
rs1335638362
|
|
NM_000051.4(ATM):c.2058C>A (p.Leu686=)
|
|
|
NM_000051.4(ATM):c.2058C>G (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.2058C>T (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.205C>T (p.Gln69Ter)
|
rs876660631
|
|
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln)
|
rs769338089
|
|
NM_000051.4(ATM):c.2064A>G (p.Glu688=)
|
rs772739433
|
|
NM_000051.4(ATM):c.2065T>A (p.Ser689Thr)
|
|
|
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu)
|
rs1591534804
|
|
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
|
rs1555073434
|
|
NM_000051.4(ATM):c.2068C>T (p.Leu690=)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2069_2074dup (p.Asp691_Arg692insLeuAsp)
|
|
|
NM_000051.4(ATM):c.206A>C (p.Gln69Pro)
|
rs1591451524
|
|
NM_000051.4(ATM):c.2071G>C (p.Asp691His)
|
rs762394404
|
|
NM_000051.4(ATM):c.2071G>T (p.Asp691Tyr)
|
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
NM_000051.4(ATM):c.2078G>A (p.Cys693Tyr)
|
|
|
NM_000051.4(ATM):c.2083C>T (p.Leu695=)
|
|
|
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu)
|
rs752550257
|
|
NM_000051.4(ATM):c.2088A>T (p.Gly696=)
|
rs1555073469
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
NM_000051.4(ATM):c.2094A>C (p.Ser698=)
|
rs1344336370
|
|
NM_000051.4(ATM):c.2094A>T (p.Ser698=)
|
|
|
NM_000051.4(ATM):c.2095G>A (p.Glu699Lys)
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
NM_000051.4(ATM):c.2097A>G (p.Glu699=)
|
rs777887012
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)
|
rs1555073490
|
|
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser)
|
rs587781304
|
|
NM_000051.4(ATM):c.210A>G (p.Lys70=)
|
rs1064793030
|
|
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
|
|
|
NM_000051.4(ATM):c.2113T>C (p.Tyr705His)
|
rs757260641
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala)
|
rs536609092
|
|
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)
|
rs1555073529
|
|
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
|
|
|
NM_000051.4(ATM):c.2121T>C (p.Ser707=)
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2125-2A>G
|
|
|
NM_000051.4(ATM):c.2125-3A>C
|
rs1565394396
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
NM_000051.4(ATM):c.2125-910T>G
|
|
|
NM_000051.4(ATM):c.2125A>G (p.Ile709Val)
|
rs864622259
|
|
NM_000051.4(ATM):c.2125A>T (p.Ile709Phe)
|
rs864622259
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.2129C>A (p.Thr710Lys)
|
rs1565394456
|
|
NM_000051.4(ATM):c.2129del (p.Thr710fs)
|
rs786203807
|
|
NM_000051.4(ATM):c.212A>G (p.Glu71Gly)
|
|
|
NM_000051.4(ATM):c.2130A>G (p.Thr710=)
|
rs2080472731
|
|
NM_000051.4(ATM):c.2130A>T (p.Thr710=)
|
|
|
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)
|
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2136A>G (p.Ser712=)
|
|
|
NM_000051.4(ATM):c.2139A>C (p.Glu713Asp)
|
rs2080473610
|
|
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala)
|
rs2080473704
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2143C>G (p.Leu715Val)
|
rs758864982
|
|
NM_000051.4(ATM):c.2143C>T (p.Leu715Phe)
|
rs758864982
|
|
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro)
|
rs1555074855
|
|
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)
|
rs864622294
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2149C>A (p.Arg717=)
|
rs147515380
|
|
NM_000051.4(ATM):c.214A>G (p.Thr72Ala)
|
rs1223998386
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu)
|
rs2080475075
|
|
NM_000051.4(ATM):c.2157A>G (p.Ser719=)
|
rs1591542014
|
|
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)
|
rs565622131
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro)
|
rs55830714
|
|
NM_000051.4(ATM):c.215C>T (p.Thr72Ile)
|
rs876658893
|
|
NM_000051.4(ATM):c.2160T>A (p.Arg720=)
|
|
|
NM_000051.4(ATM):c.2163T>C (p.Leu721=)
|
rs1591542057
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2166G>A (p.Leu722=)
|
rs1555074886
|
|
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe)
|
rs1555074886
|
|
NM_000051.4(ATM):c.2169G>T (p.Val723=)
|
rs878853491
|
|
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser)
|
rs887317346
|
|
NM_000051.4(ATM):c.2171G>A (p.Gly724Asp)
|
rs1555074904
|
|
NM_000051.4(ATM):c.2173G>A (p.Val725Ile)
|
rs1272918725
|
|
NM_000051.4(ATM):c.2176C>T (p.Leu726Phe)
|
rs775266056
|
|
NM_000051.4(ATM):c.2178T>A (p.Leu726=)
|
|
|
NM_000051.4(ATM):c.2178T>C (p.Leu726=)
|
rs1591542185
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.2181C>G (p.Gly727=)
|
rs876658836
|
|
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys)
|
rs1555074940
|
|
NM_000051.4(ATM):c.2188T>G (p.Cys730Gly)
|
rs1555074947
|
|
NM_000051.4(ATM):c.218A>G (p.Glu73Gly)
|
|
|
NM_000051.4(ATM):c.2190T>C (p.Cys730=)
|
rs876659949
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
NM_000051.4(ATM):c.2197G>A (p.Gly733Ser)
|
rs1565394966
|
|
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
|
|
|
NM_000051.4(ATM):c.2199T>A (p.Gly733=)
|
|
|
NM_000051.4(ATM):c.2199T>C (p.Gly733=)
|
rs1591542359
|
|
NM_000051.4(ATM):c.2200G>T (p.Val734Leu)
|
rs1390127104
|
|
NM_000051.4(ATM):c.2200del (p.Gly733_Val734insTer)
|
|
|
NM_000051.4(ATM):c.2211A>G (p.Glu737=)
|
rs1555074990
|
|
NM_000051.4(ATM):c.2214G>A (p.Glu738=)
|
rs1565395061
|
|
NM_000051.4(ATM):c.2214G>C (p.Glu738Asp)
|
|
|
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys)
|
rs1565395076
|
|
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr)
|
rs786201866
|
|
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)
|
rs864622515
|
|
NM_000051.4(ATM):c.2222A>C (p.Tyr741Ser)
|
rs878853492
|
|
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr)
|
rs2135394428
|
|
NM_000051.4(ATM):c.2229A>T (p.Ser743=)
|
|
|
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
|
|
|
NM_000051.4(ATM):c.2233T>C (p.Leu745=)
|
rs1293287271
|
|
NM_000051.4(ATM):c.2239del (p.Gln747fs)
|
|
|
NM_000051.4(ATM):c.2240A>G (p.Gln747Arg)
|
|
|
NM_000051.4(ATM):c.2242A>C (p.Lys748Gln)
|
|
|
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
|
|
|
NM_000051.4(ATM):c.2245G>A (p.Ala749Thr)
|
rs876660163
|
|
NM_000051.4(ATM):c.2245G>C (p.Ala749Pro)
|
rs876660163
|
|
NM_000051.4(ATM):c.2249A>G (p.Lys750Arg)
|
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
NM_000051.4(ATM):c.2250+5G>A
|
rs1555075047
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-2A>C
|
|
|
NM_000051.4(ATM):c.2251-3T>C
|
rs752951518
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2251T>C (p.Ser751Pro)
|
|
|
NM_000051.4(ATM):c.2252C>G (p.Ser751Cys)
|
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
NM_000051.4(ATM):c.2254C>T (p.Leu752=)
|
rs756522395
|
|
NM_000051.4(ATM):c.2254_2255del (p.Leu752fs)
|
|
|
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro)
|
rs2135405669
|
|
NM_000051.4(ATM):c.2256A>T (p.Leu752=)
|
|
|
NM_000051.4(ATM):c.225G>A (p.Leu75=)
|
rs1060504306
|
|
NM_000051.4(ATM):c.225G>T (p.Leu75=)
|
|
|
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
|
|
|
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg)
|
rs1060501646
|
|
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)
|
rs876660916
|
|
NM_000051.4(ATM):c.2264G>T (p.Cys755Phe)
|
rs876660916
|
|
NM_000051.4(ATM):c.2266G>A (p.Ala756Thr)
|
|
|
NM_000051.4(ATM):c.2267C>T (p.Ala756Val)
|
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)
|
rs1555075658
|
|
NM_000051.4(ATM):c.2274A>C (p.Glu758Asp)
|
rs1591546306
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2278A>G (p.Ile760Val)
|
rs1555075672
|
|
NM_000051.4(ATM):c.227G>A (p.Arg76Lys)
|
rs1565346853
|
|
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala)
|
rs2235011
|
|
NM_000051.4(ATM):c.2283T>C (p.Thr761=)
|
|
|
NM_000051.4(ATM):c.2283T>G (p.Thr761=)
|
|
|
NM_000051.4(ATM):c.2284C>T (p.Leu762=)
|
rs876659401
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2285T>G (p.Leu762Arg)
|
|
|
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)
|
rs1064795831
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
NM_000051.4(ATM):c.228A>C (p.Arg76Ser)
|
rs1591451698
|
|
NM_000051.4(ATM):c.2290A>G (p.Lys764Glu)
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu)
|
rs748125666
|
|
NM_000051.4(ATM):c.22C>T (p.Leu8=)
|
rs2135004594
|
|
NM_000051.4(ATM):c.2302A>G (p.Asn768Asp)
|
rs1591546447
|
|
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser)
|
rs2080577809
|
|
NM_000051.4(ATM):c.2303A>T (p.Asn768Ile)
|
|
|
NM_000051.4(ATM):c.2304T>G (p.Asn768Lys)
|
|
|
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly)
|
rs1377126475
|
|
NM_000051.4(ATM):c.2312T>G (p.Phe771Cys)
|
|
|
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly)
|
rs1565397219
|
|
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser)
|
rs2135407049
|
|
NM_000051.4(ATM):c.2316_2317del (p.Arg772fs)
|
|
|
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu)
|
rs876659084
|
|
NM_000051.4(ATM):c.2319T>C (p.Ile773=)
|
|
|
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp)
|
rs1555075727
|
|
NM_000051.4(ATM):c.2321G>T (p.Gly774Val)
|
rs1555075727
|
|
NM_000051.4(ATM):c.2325C>A (p.Ser775=)
|
|
|
NM_000051.4(ATM):c.2326T>C (p.Leu776=)
|
rs762937809
|
|
NM_000051.4(ATM):c.232G>A (p.Ala78Thr)
|
rs878853493
|
|
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys)
|
rs876660432
|
|
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp)
|
rs1555075751
|
|
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del)
|
rs1555075763
|
|
NM_000051.4(ATM):c.2336T>G (p.Met779Arg)
|
|
|
NM_000051.4(ATM):c.2337G>A (p.Met779Ile)
|
rs1227866298
|
|
NM_000051.4(ATM):c.2338A>G (p.Met780Val)
|
rs587781446
|
|
NM_000051.4(ATM):c.2339T>C (p.Met780Thr)
|
|
|
NM_000051.4(ATM):c.233C>G (p.Ala78Gly)
|
rs876659669
|
|
NM_000051.4(ATM):c.2341C>G (p.Gln781Glu)
|
rs1555075781
|
|
NM_000051.4(ATM):c.2343G>A (p.Gln781=)
|
rs2135407606
|
|
NM_000051.4(ATM):c.2345dup (p.Cys783fs)
|
rs1591546645
|
|
NM_000051.4(ATM):c.2347T>C (p.Cys783Arg)
|
rs1555075786
|
|
NM_000051.4(ATM):c.234A>G (p.Ala78=)
|
rs1555055145
|
|
NM_000051.4(ATM):c.2352A>T (p.Thr784=)
|
rs759679953
|
|
NM_000051.4(ATM):c.2355T>C (p.Arg785=)
|
rs1555075801
|
|
NM_000051.4(ATM):c.2358C>T (p.Cys786=)
|
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
NM_000051.4(ATM):c.2364C>T (p.Ser788=)
|
rs2135408164
|
|
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)
|
rs1591546766
|
|
NM_000051.4(ATM):c.2367C>T (p.Asn789=)
|
rs2080585059
|
|
NM_000051.4(ATM):c.2368T>C (p.Cys790Arg)
|
rs1555075810
|
|
NM_000051.4(ATM):c.2369G>A (p.Cys790Tyr)
|
|
|
NM_000051.4(ATM):c.236A>G (p.Lys79Arg)
|
rs1591451757
|
|
NM_000051.4(ATM):c.2370T>C (p.Cys790=)
|
|
|
NM_000051.4(ATM):c.2371A>G (p.Thr791Ala)
|
rs1555075814
|
|
NM_000051.4(ATM):c.2371del (p.Thr791fs)
|
|
|
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile)
|
rs2135408339
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+1G>T
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+2dup
|
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
NM_000051.4(ATM):c.2376G>A (p.Lys792=)
|
rs754267376
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377-3C>T
|
|
|
NM_000051.4(ATM):c.2377-5T>C
|
rs754206007
|
|
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln)
|
rs587781583
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg)
|
rs876658149
|
|
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg)
|
rs1555076601
|
|
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala)
|
rs1060501651
|
|
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)
|
rs1060501651
|
|
NM_000051.4(ATM):c.2385A>G (p.Pro795=)
|
rs2135420750
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser)
|
rs1555076612
|
|
NM_000051.4(ATM):c.2387A>T (p.Asn796Ile)
|
rs1555076612
|
|
NM_000051.4(ATM):c.238C>A (p.Pro80Thr)
|
|
|
NM_000051.4(ATM):c.2394T>C (p.Ile798=)
|
rs876659882
|
|
NM_000051.4(ATM):c.2397A>C (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2397A>G (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.239C>T (p.Pro80Leu)
|
rs876659996
|
|
NM_000051.4(ATM):c.23T>G (p.Leu8Arg)
|
rs1555053885
|
|
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp)
|
rs1591551289
|
|
NM_000051.4(ATM):c.2403C>T (p.Gly801=)
|
rs1264455310
|
|
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu)
|
rs2080695065
|
|
NM_000051.4(ATM):c.2404T>G (p.Phe802Val)
|
|
|
NM_000051.4(ATM):c.2406T>C (p.Phe802=)
|
rs1472760933
|
|
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu)
|
rs2080695332
|
|
NM_000051.4(ATM):c.2408T>A (p.Phe803Tyr)
|
|
|
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser)
|
rs751218526
|
|
NM_000051.4(ATM):c.2409C>A (p.Phe803Leu)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly)
|
rs780619951
|
|
NM_000051.4(ATM):c.2416T>C (p.Leu806=)
|
rs1591551376
|
|
NM_000051.4(ATM):c.2418G>A (p.Leu806=)
|
rs587781296
|
|
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile)
|
rs2080697096
|
|
NM_000051.4(ATM):c.2424A>G (p.Thr808=)
|
rs1555076671
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
NM_000051.4(ATM):c.2427A>G (p.Ser809=)
|
rs1591551435
|
|
NM_000051.4(ATM):c.2428A>T (p.Lys810Ter)
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)
|
rs2135034894
|
|
NM_000051.4(ATM):c.242dup (p.Asn81fs)
|
rs1591451795
|
|
NM_000051.4(ATM):c.2430G>A (p.Lys810=)
|
rs1555076689
|
|
NM_000051.4(ATM):c.2431C>G (p.Leu811Val)
|
|
|
NM_000051.4(ATM):c.2434A>G (p.Met812Val)
|
rs112357985
|
|
NM_000051.4(ATM):c.2436G>A (p.Met812Ile)
|
rs876658688
|
|
NM_000051.4(ATM):c.243T>C (p.Asn81=)
|
rs1591451819
|
|
NM_000051.4(ATM):c.2440G>T (p.Asp814Tyr)
|
|
|
NM_000051.4(ATM):c.2441A>T (p.Asp814Val)
|
rs1565400035
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2442C>T (p.Asp814=)
|
rs3218695
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn)
|
rs587778067
|
|
NM_000051.4(ATM):c.244G>A (p.Val82Ile)
|
rs1412024666
|
|
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly)
|
rs587779821
|
|
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)
|
rs587779821
|
|
NM_000051.4(ATM):c.2451T>G (p.Asp817Glu)
|
|
|
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr)
|
rs1591551563
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.2455_2460del (p.Cys819_Lys820del)
|
|
|
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr)
|
rs1591551588
|
|
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr)
|
rs1555076748
|
|
NM_000051.4(ATM):c.2462del (p.Ser821fs)
|
rs2080701610
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2464_2466+2del
|
rs2135422352
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2466+4A>C
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+4A>G
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+4_2466+7del
|
|
|
NM_000051.4(ATM):c.2466+5G>A
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466A>C (p.Leu822Phe)
|
rs747108452
|
|
NM_000051.4(ATM):c.2467-2A>T
|
rs1555082050
|
|
NM_000051.4(ATM):c.2467-4G>T
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr)
|
rs786202895
|
|
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)
|
|
|
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser)
|
rs786202895
|
|
NM_000051.4(ATM):c.2468C>T (p.Ala823Val)
|
rs1591587044
|
|
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
|
|
|
NM_000051.4(ATM):c.246A>T (p.Val82=)
|
|
|
NM_000051.4(ATM):c.2470T>C (p.Ser824Pro)
|
|
|
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe)
|
rs1555082060
|
|
NM_000051.4(ATM):c.2472C>G (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2472C>T (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2475dup (p.Ile826fs)
|
rs1591587103
|
|
NM_000051.4(ATM):c.2476A>G (p.Ile826Val)
|
rs587782397
|
|
NM_000051.4(ATM):c.2478C>G (p.Ile826Met)
|
rs1591587125
|
|
NM_000051.4(ATM):c.2478C>T (p.Ile826=)
|
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala)
|
rs1060501546
|
|
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2487A>G (p.Pro829=)
|
rs1330586139
|
|
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)
|
rs773582901
|
|
NM_000051.4(ATM):c.248_249delinsT (p.Ser83fs)
|
|
|
NM_000051.4(ATM):c.2490T>G (p.Phe830Leu)
|
|
|
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn)
|
rs1060501595
|
|
NM_000051.4(ATM):c.2492A>T (p.Asp831Val)
|
rs587781352
|
|
NM_000051.4(ATM):c.2493C>T (p.Asp831=)
|
rs2135505712
|
|
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)
|
rs2229022
|
|
NM_000051.4(ATM):c.2494dup (p.Arg832fs)
|
rs1131691165
|
|
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro)
|
rs199875915
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)
|
rs876658804
|
|
NM_000051.4(ATM):c.2498G>A (p.Gly833Glu)
|
rs552010421
|
|
NM_000051.4(ATM):c.2499A>C (p.Gly833=)
|
rs1060504263
|
|
NM_000051.4(ATM):c.249A>C (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>G (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>T (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.24G>A (p.Leu8=)
|
rs1555053888
|
|
NM_000051.4(ATM):c.2500G>A (p.Glu834Lys)
|
rs876660430
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu)
|
rs879254208
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2503G>T (p.Val835Leu)
|
rs757151992
|
|
NM_000051.4(ATM):c.2504T>C (p.Val835Ala)
|
|
|
NM_000051.4(ATM):c.2508dup (p.Ser837fs)
|
rs770396940
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
NM_000051.4(ATM):c.2511A>G (p.Ser837=)
|
|
|
NM_000051.4(ATM):c.2513T>G (p.Met838Arg)
|
|
|
NM_000051.4(ATM):c.2515G>A (p.Glu839Lys)
|
|
|
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)
|
rs1246807453
|
|
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
|
|
|
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)
|
rs1060501697
|
|
NM_000051.4(ATM):c.2518G>C (p.Asp840His)
|
rs879189597
|
|
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly)
|
rs786202605
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu)
|
rs1591587498
|
|
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
|
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)
|
rs587781812
|
|
NM_000051.4(ATM):c.2523T>C (p.Asp841=)
|
rs758234872
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)
|
rs1555082164
|
|
NM_000051.4(ATM):c.2525C>T (p.Thr842Ile)
|
rs1555082164
|
|
NM_000051.4(ATM):c.2526T>C (p.Thr842=)
|
rs1565416272
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
NM_000051.4(ATM):c.252C>A (p.Ala84=)
|
|
|
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del)
|
rs956305036
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala)
|
rs587781808
|
|
NM_000051.4(ATM):c.2532A>C (p.Gly844=)
|
rs755261743
|
|
NM_000051.4(ATM):c.2532A>T (p.Gly844=)
|
|
|
NM_000051.4(ATM):c.2533A>C (p.Asn845His)
|
rs1591587679
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
NM_000051.4(ATM):c.2536C>G (p.Leu846Val)
|
rs1555082186
|
|
NM_000051.4(ATM):c.2538A>G (p.Leu846=)
|
rs567045160
|
|
NM_000051.4(ATM):c.2539A>G (p.Met847Val)
|
rs587779823
|
|
NM_000051.4(ATM):c.2539A>T (p.Met847Leu)
|
rs587779823
|
|
NM_000051.4(ATM):c.2539_2543del (p.Met847fs)
|
|
|
NM_000051.4(ATM):c.2541G>A (p.Met847Ile)
|
rs864622131
|
|
NM_000051.4(ATM):c.2542G>A (p.Glu848Lys)
|
rs879254046
|
|
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly)
|
rs1060501555
|
|
NM_000051.4(ATM):c.2544G>A (p.Glu848=)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2545G>A (p.Val849Met)
|
rs1591587875
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)
|
rs1555082209
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)
|
rs587782280
|
|
NM_000051.4(ATM):c.2548del (p.Glu850fs)
|
|
|
NM_000051.4(ATM):c.2549A>G (p.Glu850Gly)
|
rs876660456
|
|
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn)
|
rs1555082218
|
|
NM_000051.4(ATM):c.2553T>A (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2555A>C (p.Gln852Pro)
|
rs1265258461
|
|
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro)
|
rs876658913
|
|
NM_000051.4(ATM):c.2558C>T (p.Ser853Leu)
|
rs1555082235
|
|
NM_000051.4(ATM):c.2559A>C (p.Ser853=)
|
|
|
NM_000051.4(ATM):c.2559A>G (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.2559A>T (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.255A>G (p.Ser85=)
|
rs2135035403
|
|
NM_000051.4(ATM):c.2561C>G (p.Ser854Cys)
|
rs778123895
|
|
NM_000051.4(ATM):c.2561C>T (p.Ser854Phe)
|
|
|
NM_000051.4(ATM):c.2563A>C (p.Met855Leu)
|
|
|
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)
|
rs749844591
|
|
NM_000051.4(ATM):c.2565G>C (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2566A>C (p.Asn856His)
|
rs774757757
|
|
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs)
|
rs2135507893
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
NM_000051.4(ATM):c.2567A>T (p.Asn856Ile)
|
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
NM_000051.4(ATM):c.2570T>C (p.Leu857Pro)
|
|
|
NM_000051.4(ATM):c.2571A>T (p.Leu857=)
|
rs1191404395
|
|
NM_000051.4(ATM):c.2572_2574delinsA (p.Phe858fs)
|
|
|
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)
|
rs1131691148
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser)
|
rs1565416655
|
|
NM_000051.4(ATM):c.2578G>C (p.Asp860His)
|
rs587779825
|
|
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
|
rs761251711
|
|
NM_000051.4(ATM):c.257C>T (p.Thr86Ile)
|
rs755326770
|
|
NM_000051.4(ATM):c.2580T>A (p.Asp860Glu)
|
rs1456550475
|
|
NM_000051.4(ATM):c.2584C>A (p.Pro862Thr)
|
rs876660537
|
|
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser)
|
rs876660537
|
|
NM_000051.4(ATM):c.2585C>G (p.Pro862Arg)
|
|
|
NM_000051.4(ATM):c.2586T>C (p.Pro862=)
|
rs2135508452
|
|
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn)
|
rs2135508489
|
|
NM_000051.4(ATM):c.2588A>T (p.Asp863Val)
|
rs1591588390
|
|
NM_000051.4(ATM):c.258A>C (p.Thr86=)
|
|
|
NM_000051.4(ATM):c.258A>G (p.Thr86=)
|
rs777434093
|
|
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del)
|
rs863224823
|
|
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn)
|
rs1555082306
|
|
NM_000051.4(ATM):c.2592T>C (p.Ser864=)
|
|
|
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn)
|
rs1591588450
|
|
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile)
|
rs1591588450
|
|
NM_000051.4(ATM):c.2600G>C (p.Ser867Thr)
|
|
|
NM_000051.4(ATM):c.2601T>C (p.Ser867=)
|
|
|
NM_000051.4(ATM):c.2602G>A (p.Asp868Asn)
|
rs1591588501
|
|
NM_000051.4(ATM):c.2603A>T (p.Asp868Val)
|
rs750322758
|
|
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu)
|
rs145513717
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2608A>C (p.Asn870His)
|
rs61734354
|
|
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
NM_000051.4(ATM):c.2616T>C (p.Pro872=)
|
rs1591588691
|
|
NM_000051.4(ATM):c.2624del (p.Ser875fs)
|
rs1555082344
|
|
NM_000051.4(ATM):c.2625C>T (p.Ser875=)
|
rs1591588785
|
|
NM_000051.4(ATM):c.2628A>C (p.Gln876His)
|
|
|
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly)
|
rs2081313542
|
|
NM_000051.4(ATM):c.262G>T (p.Ala88Ser)
|
rs1591451921
|
|
NM_000051.4(ATM):c.2631T>C (p.Ser877=)
|
|
|
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
|
|
|
NM_000051.4(ATM):c.2632A>G (p.Thr878Ala)
|
|
|
NM_000051.4(ATM):c.2634C>G (p.Thr878=)
|
rs771444818
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2638+304C>A
|
|
|
NM_000051.4(ATM):c.2638+4A>G
|
|
|
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)
|
|
|
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg)
|
rs2135509665
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
NM_000051.4(ATM):c.2639-7_2639-2del
|
|
|
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala)
|
rs2135522879
|
|
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
|
|
|
NM_000051.4(ATM):c.2644A>G (p.Ile882Val)
|
|
|
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys)
|
rs1555083093
|
|
NM_000051.4(ATM):c.264C>T (p.Ala88=)
|
rs1555055190
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser)
|
rs1555083096
|
|
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser)
|
rs575762025
|
|
NM_000051.4(ATM):c.2658T>C (p.Ala886=)
|
rs1591593665
|
|
NM_000051.4(ATM):c.2659G>A (p.Glu887Lys)
|
|
|
NM_000051.4(ATM):c.2662G>A (p.Glu888Lys)
|
|
|
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)
|
rs879254083
|
|
NM_000051.4(ATM):c.2666A>G (p.Tyr889Cys)
|
rs1064793034
|
|
NM_000051.4(ATM):c.2667T>C (p.Tyr889=)
|
rs2081381578
|
|
NM_000051.4(ATM):c.2668C>G (p.Leu890Val)
|
rs937133424
|
|
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
|
|
|
NM_000051.4(ATM):c.266C>T (p.Ser89Phe)
|
rs375605135
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2674A>G (p.Lys892Glu)
|
|
|
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn)
|
rs1555083128
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg)
|
rs876659776
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.267C>A (p.Ser89=)
|
|
|
NM_000051.4(ATM):c.267C>T (p.Ser89=)
|
rs1555055198
|
|
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)
|
rs1400094698
|
|
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)
|
rs113482790
|
|
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile)
|
rs1299030225
|
|
NM_000051.4(ATM):c.268A>G (p.Arg90Gly)
|
rs868748140
|
|
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser)
|
rs876658373
|
|
NM_000051.4(ATM):c.2692T>G (p.Leu898Val)
|
rs2135524133
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
NM_000051.4(ATM):c.2694A>G (p.Leu898=)
|
|
|
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe)
|
rs774395596
|
|
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly)
|
rs1555083190
|
|
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu)
|
rs786202978
|
|
NM_000051.4(ATM):c.2698A>T (p.Met900Leu)
|
|
|
NM_000051.4(ATM):c.2699T>C (p.Met900Thr)
|
rs863224558
|
|
NM_000051.4(ATM):c.2700G>A (p.Met900Ile)
|
rs1591593939
|
|
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe)
|
rs863224559
|
|
NM_000051.4(ATM):c.2703C>G (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2703C>T (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
|
|
|
NM_000051.4(ATM):c.2715T>G (p.Cys905Trp)
|
rs2081385130
|
|
NM_000051.4(ATM):c.2716T>A (p.Leu906Met)
|
rs368047468
|
|
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser)
|
rs1064794688
|
|
NM_000051.4(ATM):c.2718G>T (p.Leu906Phe)
|
|
|
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)
|
rs775371838
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.2724A>G (p.Val908=)
|
|
|
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser)
|
rs786203175
|
|
NM_000051.4(ATM):c.2729C>T (p.Thr910Ile)
|
rs1481694786
|
|
NM_000051.4(ATM):c.2730T>G (p.Thr910=)
|
rs1591594148
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu)
|
rs764409952
|
|
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)
|
rs764409952
|
|
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu)
|
rs730881353
|
|
NM_000051.4(ATM):c.2738C>G (p.Thr913Ser)
|
|
|
NM_000051.4(ATM):c.2739C>A (p.Thr913=)
|
rs1555083293
|
|
NM_000051.4(ATM):c.2739C>T (p.Thr913=)
|
rs1555083293
|
|
NM_000051.4(ATM):c.2742T>C (p.Asn914=)
|
rs1057520522
|
|
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala)
|
rs786203106
|
|
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn)
|
rs876660912
|
|
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
|
|
|
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)
|
rs756969590
|
|
NM_000051.4(ATM):c.2750C>G (p.Ser917Cys)
|
rs2081388548
|
|
NM_000051.4(ATM):c.2751C>G (p.Ser917=)
|
rs876659611
|
|
NM_000051.4(ATM):c.2754T>C (p.Phe918=)
|
rs758955717
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly)
|
rs1591594384
|
|
NM_000051.4(ATM):c.2758G>T (p.Ala920Ser)
|
rs1555083326
|
|
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)
|
rs1565419701
|
|
NM_000051.4(ATM):c.2763T>A (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2763T>C (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2764G>C (p.Asp922His)
|
rs786201670
|
|
NM_000051.4(ATM):c.2765A>T (p.Asp922Val)
|
rs1555083339
|
|
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn)
|
rs2081390566
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
NM_000051.4(ATM):c.2772G>C (p.Arg924=)
|
rs777541280
|
|
NM_000051.4(ATM):c.2774G>A (p.Arg925Lys)
|
|
|
NM_000051.4(ATM):c.2775G>A (p.Arg925=)
|
rs1591594506
|
|
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
|
|
|
NM_000051.4(ATM):c.277A>C (p.Lys93Gln)
|
rs1555055234
|
|
NM_000051.4(ATM):c.2782T>C (p.Leu928=)
|
|
|
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
|
|
|
NM_000051.4(ATM):c.2786T>A (p.Met929Lys)
|
rs745737218
|
|
NM_000051.4(ATM):c.2788T>C (p.Leu930=)
|
rs2135526232
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.278A>G (p.Lys93Arg)
|
|
|
NM_000051.4(ATM):c.2790A>G (p.Leu930=)
|
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
NM_000051.4(ATM):c.2793T>C (p.Ile931=)
|
|
|
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
|
|
|
NM_000051.4(ATM):c.2797T>G (p.Ser933Ala)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2798C>T (p.Ser933Phe)
|
|
|
NM_000051.4(ATM):c.2799T>A (p.Ser933=)
|
|
|
NM_000051.4(ATM):c.2799T>C (p.Ser933=)
|
rs1555083381
|
|
NM_000051.4(ATM):c.2799T>G (p.Ser933=)
|
|
|
NM_000051.4(ATM):c.279G>A (p.Lys93=)
|
rs368196317
|
|
NM_000051.4(ATM):c.27T>C (p.Leu9=)
|
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg)
|
rs876659788
|
|
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro)
|
rs35813135
|
|
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala)
|
rs35813135
|
|
NM_000051.4(ATM):c.2803A>T (p.Thr935Ser)
|
|
|
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys)
|
rs3218708
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2806C>G (p.Leu936Val)
|
rs1422401186
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2808A>G (p.Leu936=)
|
rs547791214
|
|
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)
|
rs1415567368
|
|
NM_000051.4(ATM):c.2814T>C (p.Pro938=)
|
|
|
NM_000051.4(ATM):c.2815A>T (p.Thr939Ser)
|
|
|
NM_000051.4(ATM):c.2816C>T (p.Thr939Ile)
|
|
|
NM_000051.4(ATM):c.2817C>G (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>G (p.Lys940Arg)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
NM_000051.4(ATM):c.2821T>G (p.Ser941Ala)
|
rs1209997887
|
|
NM_000051.4(ATM):c.2823C>A (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2823C>T (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2824C>G (p.Leu942Val)
|
|
|
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
|
|
|
NM_000051.4(ATM):c.2832G>C (p.Leu944=)
|
rs2135527476
|
|
NM_000051.4(ATM):c.2832G>T (p.Leu944=)
|
|
|
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
|
|
|
NM_000051.4(ATM):c.2833C>T (p.His945Tyr)
|
rs2081396911
|
|
NM_000051.4(ATM):c.2834A>G (p.His945Arg)
|
rs752053874
|
|
NM_000051.4(ATM):c.2836A>C (p.Met946Leu)
|
rs587781992
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+5G>C
|
|
|
NM_000051.4(ATM):c.2839-2A>G
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2839-581G>T
|
|
|
NM_000051.4(ATM):c.2839-5C>A
|
rs876660205
|
|
NM_000051.4(ATM):c.2839-5C>G
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys)
|
rs587779827
|
|
NM_000051.4(ATM):c.2841T>C (p.Tyr947=)
|
rs1167845678
|
|
NM_000051.4(ATM):c.2842C>T (p.Leu948=)
|
rs1591602173
|
|
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln)
|
rs2135547361
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
NM_000051.4(ATM):c.2845A>G (p.Met949Val)
|
rs1348704826
|
|
NM_000051.4(ATM):c.2846T>C (p.Met949Thr)
|
rs1591602201
|
|
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro)
|
rs786203054
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)
|
rs1591602248
|
|
NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)
|
|
|
NM_000051.4(ATM):c.285G>C (p.Gln95His)
|
rs1316615402
|
|
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg)
|
rs1555084648
|
|
NM_000051.4(ATM):c.2862T>G (p.Leu954=)
|
rs1426256662
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2867del (p.Gly956fs)
|
rs2135547839
|
|
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
|
|
|
NM_000051.4(ATM):c.286G>A (p.Glu96Lys)
|
|
|
NM_000051.4(ATM):c.286G>T (p.Glu96Ter)
|
rs1591452100
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2874G>A (p.Glu958=)
|
rs1555084671
|
|
NM_000051.4(ATM):c.2875T>C (p.Tyr959His)
|
|
|
NM_000051.4(ATM):c.2878C>T (p.Pro960Ser)
|
|
|
NM_000051.4(ATM):c.2879C>G (p.Pro960Arg)
|
rs587779828
|
|
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu)
|
rs587779828
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2882del (p.Leu961fs)
|
rs587781805
|
|
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
|
|
|
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu)
|
rs1591602470
|
|
NM_000051.4(ATM):c.2894A>G (p.Asp965Gly)
|
|
|
NM_000051.4(ATM):c.2895T>C (p.Asp965=)
|
rs1424320755
|
|
NM_000051.4(ATM):c.2896G>A (p.Val966Ile)
|
rs1060501598
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
NM_000051.4(ATM):c.28A>G (p.Ile10Val)
|
rs876660671
|
|
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)
|
rs1555084723
|
|
NM_000051.4(ATM):c.2906T>C (p.Leu969Pro)
|
rs1591602563
|
|
NM_000051.4(ATM):c.2908C>G (p.Leu970Val)
|
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.2909T>A (p.Leu970Gln)
|
rs587782521
|
|
NM_000051.4(ATM):c.2910G>T (p.Leu970=)
|
|
|
NM_000051.4(ATM):c.2912A>T (p.Lys971Ile)
|
rs587781855
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
NM_000051.4(ATM):c.2913A>T (p.Lys971Asn)
|
|
|
NM_000051.4(ATM):c.2917C>T (p.Leu973=)
|
rs535646511
|
|
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro)
|
rs1555084757
|
|
NM_000051.4(ATM):c.291C>A (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.291C>T (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2922-3C>T
|
rs750087017
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.2922-5C>T
|
rs1452462211
|
|
NM_000051.4(ATM):c.2922C>T (p.Ser974=)
|
rs758045139
|
|
NM_000051.4(ATM):c.2923A>G (p.Asn975Asp)
|
|
|
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys)
|
rs765848319
|
|
NM_000051.4(ATM):c.2925T>C (p.Asn975=)
|
rs765848319
|
|
NM_000051.4(ATM):c.2926G>A (p.Val976Met)
|
rs1178628574
|
|
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)
|
rs2135551484
|
|
NM_000051.4(ATM):c.292A>G (p.Ser98Gly)
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
|
|
|
NM_000051.4(ATM):c.2934T>C (p.Ser978=)
|
|
|
NM_000051.4(ATM):c.2937G>C (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2938T>C (p.Tyr980His)
|
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
NM_000051.4(ATM):c.2941C>A (p.Arg981Ser)
|
|
|
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
|
|
|
NM_000051.4(ATM):c.2943T>A (p.Arg981=)
|
|
|
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu)
|
rs749471737
|
|
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
|
|
|
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn)
|
rs1060501560
|
|
NM_000051.4(ATM):c.2949C>T (p.Asp983=)
|
rs1555085022
|
|
NM_000051.4(ATM):c.294T>C (p.Ser98=)
|
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
NM_000051.4(ATM):c.2953G>T (p.Asp985Tyr)
|
|
|
NM_000051.4(ATM):c.2954A>G (p.Asp985Gly)
|
rs864622159
|
|
NM_000051.4(ATM):c.2954A>T (p.Asp985Val)
|
rs864622159
|
|
NM_000051.4(ATM):c.2956G>T (p.Val986Phe)
|
|
|
NM_000051.4(ATM):c.2957T>C (p.Val986Ala)
|
rs373225328
|
|
NM_000051.4(ATM):c.2960G>T (p.Cys987Phe)
|
|
|
NM_000051.4(ATM):c.2963A>G (p.Lys988Arg)
|
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2969T>C (p.Ile990Thr)
|
|
|
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser)
|
rs1227701474
|
|
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser)
|
rs1060501589
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
NM_000051.4(ATM):c.2983C>A (p.Leu995Ile)
|
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.2985T>A (p.Leu995=)
|
rs1555085087
|
|
NM_000051.4(ATM):c.2986C>T (p.His996Tyr)
|
rs2081570384
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
NM_000051.4(ATM):c.2988T>C (p.His996=)
|
rs559676197
|
|
NM_000051.4(ATM):c.2988T>G (p.His996Gln)
|
rs559676197
|
|
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)
|
rs1487902875
|
|
NM_000051.4(ATM):c.2990T>C (p.Val997Ala)
|
rs1555085101
|
|
NM_000051.4(ATM):c.2991A>C (p.Val997=)
|
|
|
NM_000051.4(ATM):c.2991A>G (p.Val997=)
|
rs1203368496
|
|
NM_000051.4(ATM):c.2993T>G (p.Val998Gly)
|
rs2135553024
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
NM_000051.4(ATM):c.2994G>T (p.Val998=)
|
|
|
NM_000051.4(ATM):c.2996A>G (p.Lys999Arg)
|
|
|
NM_000051.4(ATM):c.2997A>C (p.Lys999Asn)
|
|
|
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)
|
rs1555085128
|
|
NM_000051.4(ATM):c.299T>C (p.Leu100Ser)
|
|
|
NM_000051.4(ATM):c.29T>C (p.Ile10Thr)
|
rs2135004898
|
|
NM_000051.4(ATM):c.3001C>T (p.Leu1001=)
|
|
|
NM_000051.4(ATM):c.3003A>C (p.Leu1001=)
|
rs765969190
|
|
NM_000051.4(ATM):c.3004G>A (p.Gly1002Ser)
|
|
|
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg)
|
rs1565425547
|
|
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
|
|
|
NM_000051.4(ATM):c.3007C>A (p.Gln1003Lys)
|
|
|
NM_000051.4(ATM):c.3009A>G (p.Gln1003=)
|
rs1555085154
|
|
NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn)
|
rs1060501696
|
|
NM_000051.4(ATM):c.3011G>C (p.Ser1004Thr)
|
rs1060501696
|
|
NM_000051.4(ATM):c.3013A>C (p.Asn1005His)
|
rs745954659
|
|
NM_000051.4(ATM):c.3018G>A (p.Met1006Ile)
|
|
|
NM_000051.4(ATM):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_000051.4(ATM):c.3021C>T (p.Asp1007=)
|
rs1591604426
|
|
NM_000051.4(ATM):c.3021_3026del (p.Asp1007_Ser1008del)
|
rs1591604413
|
|
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys)
|
rs2135553767
|
|
NM_000051.4(ATM):c.3024T>G (p.Ser1008=)
|
rs1060504274
|
|
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3026A>G (p.Glu1009Gly)
|
rs1591604490
|
|
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)
|
rs1060504299
|
|
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs)
|
rs1591604513
|
|
NM_000051.4(ATM):c.3029A>G (p.Asn1010Ser)
|
|
|
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
|
|
|
NM_000051.4(ATM):c.3031A>C (p.Thr1011Pro)
|
rs959314809
|
|
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala)
|
rs959314809
|
|
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3032C>T (p.Thr1011Ile)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
NM_000051.4(ATM):c.3035G>T (p.Arg1012Met)
|
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
NM_000051.4(ATM):c.3039T>C (p.Asp1013=)
|
rs1591604597
|
|
NM_000051.4(ATM):c.3040G>C (p.Ala1014Pro)
|
|
|
NM_000051.4(ATM):c.3042T>C (p.Ala1014=)
|
rs1555085205
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
NM_000051.4(ATM):c.3045A>C (p.Gln1015His)
|
rs1064796404
|
|
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val)
|
rs1565425832
|
|
NM_000051.4(ATM):c.3048A>G (p.Gly1016=)
|
rs786203820
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3050A>G (p.Gln1017Arg)
|
|
|
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)
|
rs863224560
|
|
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
|
|
|
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys)
|
rs186626274
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
NM_000051.4(ATM):c.305A>G (p.Lys102Arg)
|
|
|
NM_000051.4(ATM):c.3060A>G (p.Thr1020=)
|
rs1591604737
|
|
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3062T>G (p.Val1021Gly)
|
rs786202399
|
|
NM_000051.4(ATM):c.3063A>G (p.Val1021=)
|
rs1591604752
|
|
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val)
|
rs786202470
|
|
NM_000051.4(ATM):c.3065T>C (p.Ile1022Thr)
|
|
|
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser)
|
rs1591604769
|
|
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg)
|
rs730882129
|
|
NM_000051.4(ATM):c.3069A>G (p.Gly1023=)
|
rs778984289
|
|
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro)
|
rs1397754737
|
|
NM_000051.4(ATM):c.3072A>G (p.Ala1024=)
|
rs772274328
|
|
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys)
|
rs1555085266
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+4G>T
|
rs201222237
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
NM_000051.4(ATM):c.3078-2A>G
|
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.307T>A (p.Tyr103Asn)
|
|
|
NM_000051.4(ATM):c.3080A>C (p.His1027Pro)
|
rs786204217
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3081T>C (p.His1027=)
|
rs864622587
|
|
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3084A>C (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3084A>G (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu)
|
rs863224561
|
|
NM_000051.4(ATM):c.3090G>A (p.Lys1030=)
|
rs1591608292
|
|
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly)
|
rs758708495
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3093G>A (p.Glu1031=)
|
rs1555085799
|
|
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
|
|
|
NM_000051.4(ATM):c.3096G>A (p.Arg1032=)
|
rs1555085805
|
|
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter)
|
rs1591608334
|
|
NM_000051.4(ATM):c.3108C>G (p.Phe1036Leu)
|
|
|
NM_000051.4(ATM):c.3108_3119delinsTAA (p.Ser1037_Met1040delinsLys)
|
|
|
NM_000051.4(ATM):c.310T>C (p.Phe104Leu)
|
rs1555055306
|
|
NM_000051.4(ATM):c.3110C>T (p.Ser1037Phe)
|
rs1555085821
|
|
NM_000051.4(ATM):c.3111T>C (p.Ser1037=)
|
rs1591608393
|
|
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile)
|
rs876659877
|
|
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu)
|
rs876659877
|
|
NM_000051.4(ATM):c.3113T>A (p.Val1038Glu)
|
rs1555085827
|
|
NM_000051.4(ATM):c.3116G>A (p.Arg1039Lys)
|
|
|
NM_000051.4(ATM):c.3117A>G (p.Arg1039=)
|
rs55784207
|
|
NM_000051.4(ATM):c.3120G>C (p.Met1040Ile)
|
rs781519408
|
|
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)
|
rs748752687
|
|
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser)
|
rs748752687
|
|
NM_000051.4(ATM):c.3125T>C (p.Leu1042Pro)
|
|
|
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
|
|
|
NM_000051.4(ATM):c.3126A>T (p.Leu1042=)
|
|
|
NM_000051.4(ATM):c.3126_3137del (p.Val1043_Leu1046del)
|
|
|
NM_000051.4(ATM):c.3129A>T (p.Val1043=)
|
|
|
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser)
|
rs1565427876
|
|
NM_000051.4(ATM):c.3133T>A (p.Cys1045Ser)
|
rs1565427891
|
|
NM_000051.4(ATM):c.3133T>C (p.Cys1045Arg)
|
|
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
|
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe)
|
rs1591608576
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3138T>A (p.Leu1046=)
|
|
|
NM_000051.4(ATM):c.3138T>C (p.Leu1046=)
|
rs3092858
|
|
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)
|
rs587778071
|
|
NM_000051.4(ATM):c.3140A>T (p.Lys1047Ile)
|
|
|
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)
|
rs1565427961
|
|
NM_000051.4(ATM):c.3147G>A (p.Leu1049=)
|
rs1060501686
|
|
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
|
|
|
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala)
|
rs876659217
|
|
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly)
|
rs876659217
|
|
NM_000051.4(ATM):c.3153+4A>G
|
rs1060501620
|
|
NM_000051.4(ATM):c.3153+5G>A
|
rs1591608756
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
NM_000051.4(ATM):c.3154G>T (p.Ala1052Ser)
|
|
|
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly)
|
rs876660350
|
|
NM_000051.4(ATM):c.3156T>C (p.Ala1052=)
|
rs1591609406
|
|
NM_000051.4(ATM):c.3157G>C (p.Asp1053His)
|
rs876660172
|
|
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr)
|
rs775095314
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
NM_000051.4(ATM):c.3164A>G (p.Tyr1055Cys)
|
rs2081658652
|
|
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
|
|
|
NM_000051.4(ATM):c.3169A>C (p.Lys1057Gln)
|
|
|
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
|
|
|
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
NM_000051.4(ATM):c.3172T>A (p.Trp1058Arg)
|
rs1555085992
|
|
NM_000051.4(ATM):c.3172T>G (p.Trp1058Gly)
|
|
|
NM_000051.4(ATM):c.3173G>T (p.Trp1058Leu)
|
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val)
|
rs2081660483
|
|
NM_000051.4(ATM):c.3186T>G (p.Asn1062Lys)
|
|
|
NM_000051.4(ATM):c.318A>C (p.Lys106Asn)
|
rs1555055319
|
|
NM_000051.4(ATM):c.318del (p.Lys106fs)
|
rs1591452378
|
|
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile)
|
rs1480804197
|
|
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val)
|
rs762810180
|
|
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)
|
rs1555086041
|
|
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)
|
rs926564671
|
|
NM_000051.4(ATM):c.3198A>G (p.Lys1066=)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3199G>C (p.Asp1067His)
|
|
|
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)
|
rs766342338
|
|
NM_000051.4(ATM):c.31T>C (p.Cys11Arg)
|
|
|
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu)
|
rs1255200743
|
|
NM_000051.4(ATM):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000051.4(ATM):c.3204T>C (p.Phe1068=)
|
rs1555086059
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)
|
rs587780620
|
|
NM_000051.4(ATM):c.3208G>T (p.Val1070Leu)
|
rs587780620
|
|
NM_000051.4(ATM):c.320G>T (p.Cys107Phe)
|
rs142358238
|
|
NM_000051.4(ATM):c.3213T>C (p.Asn1071=)
|
rs786203221
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
|
|
|
NM_000051.4(ATM):c.3220T>C (p.Phe1074Leu)
|
|
|
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
|
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu)
|
rs1555086111
|
|
NM_000051.4(ATM):c.3229T>G (p.Phe1077Val)
|
rs1555086111
|
|
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr)
|
rs1565428827
|
|
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe)
|
rs1555086120
|
|
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly)
|
rs778233602
|
|
NM_000051.4(ATM):c.3236C>T (p.Ala1079Val)
|
|
|
NM_000051.4(ATM):c.3239A>C (p.Asp1080Ala)
|
|
|
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly)
|
rs757617016
|
|
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)
|
rs766951228
|
|
NM_000051.4(ATM):c.323C>T (p.Ala108Val)
|
|
|
NM_000051.4(ATM):c.3240C>T (p.Asp1080=)
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3243TCA[1] (p.His1083del)
|
rs1591609996
|
|
NM_000051.4(ATM):c.3245A>G (p.His1082Arg)
|
rs1009749513
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3247_3260del (p.His1083fs)
|
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3249C>G (p.His1083Gln)
|
rs1246816005
|
|
NM_000051.4(ATM):c.324A>G (p.Ala108=)
|
rs2135038430
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
NM_000051.4(ATM):c.3259A>C (p.Met1087Leu)
|
|
|
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
|
|
|
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr)
|
rs2135038523
|
|
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)
|
rs1460583900
|
|
NM_000051.4(ATM):c.3263del (p.Leu1088fs)
|
|
|
NM_000051.4(ATM):c.3267T>C (p.Ala1089=)
|
|
|
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val)
|
rs1591610246
|
|
NM_000051.4(ATM):c.326A>G (p.Asn109Ser)
|
rs2078893700
|
|
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)
|
rs997005308
|
|
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)
|
rs762860946
|
|
NM_000051.4(ATM):c.3276A>C (p.Ser1092=)
|
|
|
NM_000051.4(ATM):c.3276A>G (p.Ser1092=)
|
rs2135573179
|
|
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val)
|
rs876659667
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)
|
rs879254281
|
|
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp)
|
rs1591610333
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+3A>G
|
rs1591610398
|
|
NM_000051.4(ATM):c.3284+4del
|
rs761592860
|
|
NM_000051.4(ATM):c.3284+5T>C
|
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
NM_000051.4(ATM):c.3285-2308_3994-1478dup
|
|
|
NM_000051.4(ATM):c.3285-2698G>A
|
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
NM_000051.4(ATM):c.3285-5T>G
|
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3287T>G (p.Leu1096Trp)
|
|
|
NM_000051.4(ATM):c.3288G>T (p.Leu1096Phe)
|
|
|
NM_000051.4(ATM):c.3290T>C (p.Phe1097Ser)
|
rs1591631881
|
|
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu)
|
rs773964990
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly)
|
rs587778072
|
|
NM_000051.4(ATM):c.3296_3318del (p.Asp1099fs)
|
|
|
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)
|
rs2082115524
|
|
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
|
|
|
NM_000051.4(ATM):c.3301A>G (p.Lys1101Glu)
|
|
|
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg)
|
rs147557621
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
NM_000051.4(ATM):c.3305G>A (p.Gly1102Glu)
|
rs2135642803
|
|
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn)
|
rs1555090114
|
|
NM_000051.4(ATM):c.3307G>C (p.Asp1103His)
|
rs1555090114
|
|
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu)
|
rs764102178
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+2800A>G
|
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
NM_000051.4(ATM):c.331+3A>C
|
rs2078894221
|
|
NM_000051.4(ATM):c.331+3A>G
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.331+5G>C
|
|
|
NM_000051.4(ATM):c.3310T>C (p.Ser1104Pro)
|
|
|
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys)
|
rs1555090126
|
|
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
|
|
|
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
|
|
|
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
|
|
|
NM_000051.4(ATM):c.332-1015T>G
|
|
|
NM_000051.4(ATM):c.332-1G>C
|
|
|
NM_000051.4(ATM):c.332-4A>G
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3320T>C (p.Leu1107Ser)
|
|
|
NM_000051.4(ATM):c.3322C>T (p.Leu1108=)
|
rs1555090147
|
|
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro)
|
rs2082117640
|
|
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
|
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
NM_000051.4(ATM):c.3331C>T (p.Leu1111Phe)
|
|
|
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala)
|
rs876658963
|
|
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)
|
rs876658963
|
|
NM_000051.4(ATM):c.3334_3336del (p.Pro1112del)
|
|
|
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)
|
rs1064795850
|
|
NM_000051.4(ATM):c.3335dup (p.Leu1113fs)
|
rs876660031
|
|
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met)
|
rs1022672642
|
|
NM_000051.4(ATM):c.3339G>A (p.Leu1113=)
|
rs1591632173
|
|
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
NM_000051.4(ATM):c.3348del (p.Gln1116fs)
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer)
|
rs1064796055
|
|
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg)
|
rs755828033
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser)
|
rs786201956
|
|
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp)
|
rs778882461
|
|
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val)
|
rs778882461
|
|
NM_000051.4(ATM):c.3357T>G (p.Ala1119=)
|
rs1591632314
|
|
NM_000051.4(ATM):c.3358T>C (p.Phe1120Leu)
|
|
|
NM_000051.4(ATM):c.335C>T (p.Ala112Val)
|
rs1591474358
|
|
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly)
|
rs876660607
|
|
NM_000051.4(ATM):c.3363A>G (p.Glu1121=)
|
|
|
NM_000051.4(ATM):c.3366T>C (p.Asn1122=)
|
rs2135644622
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
NM_000051.4(ATM):c.336A>T (p.Ala112=)
|
rs777759909
|
|
NM_000051.4(ATM):c.3370del (p.Tyr1124fs)
|
|
|
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
|
|
|
NM_000051.4(ATM):c.3373T>A (p.Leu1125Met)
|
|
|
NM_000051.4(ATM):c.3375G>A (p.Leu1125=)
|
rs760821273
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)
|
rs876659825
|
|
NM_000051.4(ATM):c.3384G>A (p.Gln1128=)
|
rs1565439537
|
|
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys)
|
rs876658463
|
|
NM_000051.4(ATM):c.3385G>C (p.Glu1129Gln)
|
|
|
NM_000051.4(ATM):c.3387del (p.Gly1130fs)
|
rs1591632498
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
NM_000051.4(ATM):c.338C>T (p.Pro113Leu)
|
rs876658324
|
|
NM_000051.4(ATM):c.3390A>C (p.Gly1130=)
|
|
|
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
|
|
|
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile)
|
rs1565439576
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp)
|
rs1555090364
|
|
NM_000051.4(ATM):c.33C>T (p.Cys11=)
|
rs1555053901
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
|
|
|
NM_000051.4(ATM):c.3402+1G>A
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+2T>C
|
rs876659430
|
|
NM_000051.4(ATM):c.3402+3A>C
|
rs786203688
|
|
NM_000051.4(ATM):c.3402G>T (p.Met1134Ile)
|
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3403-1G>A
|
rs1555091120
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
NM_000051.4(ATM):c.3403-5T>G
|
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
NM_000051.4(ATM):c.3403T>G (p.Ser1135Ala)
|
rs1565441341
|
|
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr)
|
rs2082202102
|
|
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer)
|
rs1591636185
|
|
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
|
|
|
NM_000051.4(ATM):c.3405C>T (p.Ser1135=)
|
rs746829748
|
|
NM_000051.4(ATM):c.3408T>C (p.His1136=)
|
|
|
NM_000051.4(ATM):c.3408T>G (p.His1136Gln)
|
rs1565441369
|
|
NM_000051.4(ATM):c.340A>G (p.Arg114Gly)
|
rs927409082
|
|
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn)
|
rs876659633
|
|
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)
|
rs1565441399
|
|
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
|
|
|
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)
|
rs786203048
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
NM_000051.4(ATM):c.3419del (p.Asn1140fs)
|
rs1555091141
|
|
NM_000051.4(ATM):c.341G>A (p.Arg114Lys)
|
|
|
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala)
|
rs2082203682
|
|
NM_000051.4(ATM):c.3427A>T (p.Thr1143Ser)
|
rs1555091146
|
|
NM_000051.4(ATM):c.3428C>T (p.Thr1143Ile)
|
rs748375410
|
|
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
|
|
|
NM_000051.4(ATM):c.342G>A (p.Arg114=)
|
rs1555059036
|
|
NM_000051.4(ATM):c.342G>C (p.Arg114Ser)
|
rs1555059036
|
|
NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser)
|
rs879253949
|
|
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3435T>C (p.Asp1145=)
|
rs2082204446
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys)
|
rs1565441511
|
|
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)
|
rs1565441511
|
|
NM_000051.4(ATM):c.3437A>G (p.Glu1146Gly)
|
rs1555091169
|
|
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val)
|
rs769853739
|
|
NM_000051.4(ATM):c.343C>G (p.Leu115Val)
|
rs1555059048
|
|
NM_000051.4(ATM):c.343C>T (p.Leu115=)
|
rs1555059048
|
|
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=)
|
rs1591636407
|
|
NM_000051.4(ATM):c.3445A>T (p.Asn1149Tyr)
|
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3448A>C (p.Arg1150=)
|
rs786201209
|
|
NM_000051.4(ATM):c.344T>G (p.Leu115Arg)
|
rs876659791
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter)
|
rs1555091196
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr)
|
rs775045299
|
|
NM_000051.4(ATM):c.3459T>G (p.Val1153=)
|
|
|
NM_000051.4(ATM):c.345A>G (p.Leu115=)
|
rs2079235213
|
|
NM_000051.4(ATM):c.3460T>C (p.Leu1154=)
|
rs1591636498
|
|
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser)
|
rs2135666960
|
|
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)
|
rs1555091217
|
|
NM_000051.4(ATM):c.3465G>A (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3465G>C (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3465G>T (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
|
|
|
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
|
|
|
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)
|
rs878853504
|
|
NM_000051.4(ATM):c.3473T>A (p.Ile1158Lys)
|
|
|
NM_000051.4(ATM):c.3474A>C (p.Ile1158=)
|
|
|
NM_000051.4(ATM):c.3475G>A (p.Ala1159Thr)
|
|
|
NM_000051.4(ATM):c.3475G>C (p.Ala1159Pro)
|
|
|
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
|
|
|
NM_000051.4(ATM):c.3480G>T (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala)
|
rs12788429
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3486A>G (p.Leu1162=)
|
|
|
NM_000051.4(ATM):c.3487T>C (p.Ser1163Pro)
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
NM_000051.4(ATM):c.3491G>C (p.Cys1164Ser)
|
|
|
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly)
|
rs1351059730
|
|
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys)
|
rs1351059730
|
|
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile)
|
rs2082208653
|
|
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg)
|
rs878853505
|
|
NM_000051.4(ATM):c.3495C>T (p.Ser1165=)
|
rs878853505
|
|
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser)
|
rs867360777
|
|
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
|
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
NM_000051.4(ATM):c.3498T>G (p.Pro1166=)
|
|
|
NM_000051.4(ATM):c.3499A>C (p.Ile1167Leu)
|
rs1222634243
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
|
NM_000051.4(ATM):c.349T>C (p.Cys117Arg)
|
|
|
NM_000051.4(ATM):c.3502T>A (p.Cys1168Ser)
|
rs749933079
|
|
NM_000051.4(ATM):c.3506A>G (p.Glu1169Gly)
|
|
|
NM_000051.4(ATM):c.3507A>G (p.Glu1169=)
|
rs1555091291
|
|
NM_000051.4(ATM):c.3508A>G (p.Lys1170Glu)
|
rs1555091295
|
|
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr)
|
rs1555059066
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
NM_000051.4(ATM):c.3512A>C (p.Gln1171Pro)
|
rs1555091325
|
|
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
|
|
|
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
|
|
|
NM_000051.4(ATM):c.3516T>G (p.Ala1172=)
|
|
|
NM_000051.4(ATM):c.3518del (p.Leu1173fs)
|
rs1591636817
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
NM_000051.4(ATM):c.3527T>G (p.Leu1176Arg)
|
rs587782762
|
|
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
|
|
|
NM_000051.4(ATM):c.3528G>T (p.Leu1176=)
|
rs748335454
|
|
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg)
|
rs2135669298
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
NM_000051.4(ATM):c.3531T>C (p.Cys1177=)
|
rs876659546
|
|
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3534A>T (p.Lys1178Asn)
|
|
|
NM_000051.4(ATM):c.3537T>C (p.Ser1179=)
|
|
|
NM_000051.4(ATM):c.3537T>G (p.Ser1179=)
|
|
|
NM_000051.4(ATM):c.3538G>A (p.Val1180Met)
|
rs1060501531
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
NM_000051.4(ATM):c.3540G>A (p.Val1180=)
|
|
|
NM_000051.4(ATM):c.3540G>T (p.Val1180=)
|
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3543A>G (p.Lys1181=)
|
rs1555091382
|
|
NM_000051.4(ATM):c.3544G>A (p.Glu1182Lys)
|
|
|
NM_000051.4(ATM):c.3545A>T (p.Glu1182Val)
|
rs1555091393
|
|
NM_000051.4(ATM):c.3546G>T (p.Glu1182Asp)
|
rs1591637015
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp)
|
rs773290999
|
|
NM_000051.4(ATM):c.3549T>A (p.Asn1183Lys)
|
|
|
NM_000051.4(ATM):c.354A>G (p.Gln118=)
|
rs1188306380
|
|
NM_000051.4(ATM):c.3550G>A (p.Gly1184Arg)
|
rs1555091402
|
|
NM_000051.4(ATM):c.3552A>C (p.Gly1184=)
|
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser)
|
rs2082213794
|
|
NM_000051.4(ATM):c.3560del (p.Pro1187fs)
|
|
|
NM_000051.4(ATM):c.3563A>C (p.His1188Pro)
|
rs12786960
|
|
NM_000051.4(ATM):c.3565C>G (p.Leu1189Val)
|
rs370602633
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
NM_000051.4(ATM):c.3568G>C (p.Val1190Leu)
|
rs876660708
|
|
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)
|
rs1060501708
|
|
NM_000051.4(ATM):c.3570G>A (p.Val1190=)
|
rs1347241379
|
|
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg)
|
rs1555091451
|
|
NM_000051.4(ATM):c.3576+1G>A
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+1G>T
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+3_3576+5delinsGAG
|
|
|
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
|
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3577-1G>T
|
|
|
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
|
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3577-3C>A
|
rs876659700
|
|
NM_000051.4(ATM):c.3577-5T>C
|
rs1555092229
|
|
NM_000051.4(ATM):c.3577-9_3583del
|
rs1555092219
|
|
NM_000051.4(ATM):c.3579T>G (p.Val1193=)
|
rs1555092241
|
|
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly)
|
rs1167713135
|
|
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
|
|
|
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu)
|
rs2135686751
|
|
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala)
|
rs1555092259
|
|
NM_000051.4(ATM):c.3592T>G (p.Ser1198Ala)
|
|
|
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)
|
rs1555092263
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.35G>A (p.Cys12Tyr)
|
rs1591445899
|
|
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser)
|
rs1565444496
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
NM_000051.4(ATM):c.360C>G (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.360C>T (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.3611G>A (p.Arg1204Lys)
|
rs786203066
|
|
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
|
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser)
|
rs1555092317
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln)
|
rs772724024
|
|
NM_000051.4(ATM):c.361T>G (p.Leu121Val)
|
|
|
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
|
|
|
NM_000051.4(ATM):c.3625T>A (p.Phe1209Ile)
|
rs1555092334
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr)
|
rs192572042
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
NM_000051.4(ATM):c.3630G>T (p.Met1210Ile)
|
rs587778073
|
|
NM_000051.4(ATM):c.3630_3631delinsTT (p.Met1210_Ala1211delinsIleSer)
|
rs1555092353
|
|
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr)
|
rs745467552
|
|
NM_000051.4(ATM):c.3631G>T (p.Ala1211Ser)
|
rs745467552
|
|
NM_000051.4(ATM):c.3633A>G (p.Ala1211=)
|
rs2135688329
|
|
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr)
|
rs1064793387
|
|
NM_000051.4(ATM):c.3639T>G (p.His1213Gln)
|
rs142766756
|
|
NM_000051.4(ATM):c.3643G>C (p.Asp1215His)
|
rs1366216756
|
|
NM_000051.4(ATM):c.3646del (p.Tyr1216fs)
|
|
|
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter)
|
rs1591641318
|
|
NM_000051.4(ATM):c.3649C>T (p.Leu1217=)
|
|
|
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln)
|
rs1555092405
|
|
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro)
|
rs1555092405
|
|
NM_000051.4(ATM):c.3656del (p.Leu1219fs)
|
|
|
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys)
|
rs1565444811
|
|
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln)
|
rs1565444811
|
|
NM_000051.4(ATM):c.365A>C (p.Asn122Thr)
|
rs1060501596
|
|
NM_000051.4(ATM):c.3660A>G (p.Glu1220=)
|
rs876660835
|
|
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg)
|
rs1565444832
|
|
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter)
|
rs2135689111
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter)
|
rs2082301397
|
|
NM_000051.4(ATM):c.3672T>C (p.Leu1224=)
|
|
|
NM_000051.4(ATM):c.3672T>G (p.Leu1224=)
|
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3675A>C (p.Gln1225His)
|
|
|
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis)
|
rs1064795822
|
|
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3680C>A (p.Thr1227Asn)
|
rs1229454563
|
|
NM_000051.4(ATM):c.3681T>C (p.Thr1227=)
|
rs1388109606
|
|
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs)
|
rs1591641462
|
|
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys)
|
rs1334793787
|
|
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys)
|
rs1591641518
|
|
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
|
rs2082303743
|
|
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=)
|
rs2082303743
|
|
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)
|
rs759673348
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
NM_000051.4(ATM):c.3691T>G (p.Leu1231Val)
|
|
|
NM_000051.4(ATM):c.3693A>T (p.Leu1231Phe)
|
rs1372849076
|
|
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)
|
rs1555092477
|
|
NM_000051.4(ATM):c.3694T>G (p.Ser1232Ala)
|
rs183532834
|
|
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)
|
rs367603277
|
|
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe)
|
rs367603277
|
|
NM_000051.4(ATM):c.3698C>A (p.Ser1233Tyr)
|
|
|
NM_000051.4(ATM):c.3702T>C (p.Phe1234=)
|
|
|
NM_000051.4(ATM):c.3702T>G (p.Phe1234Leu)
|
rs876659605
|
|
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del)
|
rs1591641635
|
|
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs)
|
rs2135690451
|
|
NM_000051.4(ATM):c.3704del (p.Pro1235fs)
|
rs876658455
|
|
NM_000051.4(ATM):c.3707T>G (p.Phe1236Cys)
|
|
|
NM_000051.4(ATM):c.3708T>C (p.Phe1236=)
|
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)
|
rs786202897
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
|
|
|
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
|
|
|
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del)
|
rs1555092538
|
|
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys)
|
rs587782688
|
|
NM_000051.4(ATM):c.3722A>T (p.Tyr1241Phe)
|
rs587782688
|
|
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala)
|
rs1591641743
|
|
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg)
|
rs1266811647
|
|
NM_000051.4(ATM):c.372C>T (p.Ile124=)
|
rs773495195
|
|
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val)
|
rs2135690906
|
|
NM_000051.4(ATM):c.3732T>A (p.Ile1244=)
|
|
|
NM_000051.4(ATM):c.3732T>C (p.Ile1244=)
|
rs2135690957
|
|
NM_000051.4(ATM):c.3735G>A (p.Glu1245=)
|
rs1565445196
|
|
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile)
|
rs886506379
|
|
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
|
|
|
NM_000051.4(ATM):c.3741C>T (p.Phe1247=)
|
rs780396420
|
|
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe)
|
rs766226370
|
|
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)
|
rs1555092589
|
|
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
|
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3746+3A>T
|
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+4A>G
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
|
|
|
NM_000051.4(ATM):c.3748T>A (p.Ser1250Thr)
|
rs1555093268
|
|
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro)
|
rs1555093268
|
|
NM_000051.4(ATM):c.374T>C (p.Met125Thr)
|
rs2079237952
|
|
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg)
|
rs763730862
|
|
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr)
|
rs1427548500
|
|
NM_000051.4(ATM):c.3752G>T (p.Cys1251Phe)
|
rs1427548500
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter)
|
rs1591645340
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
NM_000051.4(ATM):c.3758A>G (p.Lys1253Arg)
|
|
|
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
NM_000051.4(ATM):c.375G>A (p.Met125Ile)
|
rs1591474725
|
|
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile)
|
rs753717865
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe)
|
rs1030517820
|
|
NM_000051.4(ATM):c.3768T>A (p.Ile1256=)
|
rs765538231
|
|
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr)
|
rs2079238248
|
|
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer)
|
rs1591474736
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3773A>G (p.His1258Arg)
|
rs1555093334
|
|
NM_000051.4(ATM):c.3774T>A (p.His1258Gln)
|
rs786203114
|
|
NM_000051.4(ATM):c.3777G>C (p.Leu1259=)
|
|
|
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)
|
rs587782035
|
|
NM_000051.4(ATM):c.3779T>A (p.Val1260Glu)
|
|
|
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
|
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
NM_000051.4(ATM):c.3782T>G (p.Ile1261Ser)
|
|
|
NM_000051.4(ATM):c.3783T>C (p.Ile1261=)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly)
|
rs1591645509
|
|
NM_000051.4(ATM):c.3785G>A (p.Arg1262Lys)
|
rs786203618
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
NM_000051.4(ATM):c.3787A>G (p.Ser1263Gly)
|
rs1276194109
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3790C>A (p.His1264Asn)
|
rs2135705273
|
|
NM_000051.4(ATM):c.3790C>T (p.His1264Tyr)
|
|
|
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val)
|
rs371526361
|
|
NM_000051.4(ATM):c.3797A>G (p.Asp1266Gly)
|
|
|
NM_000051.4(ATM):c.379A>G (p.Thr127Ala)
|
rs587781741
|
|
NM_000051.4(ATM):c.37C>A (p.Arg13Ser)
|
rs141586345
|
|
NM_000051.4(ATM):c.37C>G (p.Arg13Gly)
|
rs141586345
|
|
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val)
|
rs781357995
|
|
NM_000051.4(ATM):c.3801G>C (p.Glu1267Asp)
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3810C>A (p.Ser1270=)
|
rs2135705736
|
|
NM_000051.4(ATM):c.3811A>G (p.Ile1271Val)
|
rs1555093407
|
|
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)
|
rs1308232635
|
|
NM_000051.4(ATM):c.3812T>G (p.Ile1271Ser)
|
rs1308232635
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
|
|
|
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr)
|
rs1555093420
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3824T>C (p.Ile1275Thr)
|
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro)
|
rs770183693
|
|
NM_000051.4(ATM):c.3828A>G (p.Gln1276=)
|
rs1318728821
|
|
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln)
|
rs1591645689
|
|
NM_000051.4(ATM):c.382G>A (p.Val128Met)
|
rs587779835
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly)
|
rs1555093463
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
NM_000051.4(ATM):c.3832G>C (p.Asp1278His)
|
rs730881365
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg)
|
rs2082379727
|
|
NM_000051.4(ATM):c.3840A>G (p.Lys1280=)
|
rs2135706465
|
|
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
|
|
|
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn)
|
rs1064797161
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)
|
|
|
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
NM_000051.4(ATM):c.3845T>C (p.Leu1282Pro)
|
rs1591645828
|
|
NM_000051.4(ATM):c.3845T>G (p.Leu1282Arg)
|
rs1591645828
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg)
|
rs1200767902
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser)
|
rs876660770
|
|
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
|
|
|
NM_000051.4(ATM):c.385A>C (p.Lys129Gln)
|
rs2079239070
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg)
|
rs876660633
|
|
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
|
|
|
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg)
|
rs1555093536
|
|
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu)
|
rs878853506
|
|
NM_000051.4(ATM):c.3875T>A (p.Val1292Glu)
|
|
|
NM_000051.4(ATM):c.3875T>C (p.Val1292Ala)
|
rs1555093556
|
|
NM_000051.4(ATM):c.3876A>T (p.Val1292=)
|
|
|
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)
|
rs2082382534
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.387dup (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.3880A>T (p.Ile1294Phe)
|
rs1478504213
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3882T>C (p.Ile1294=)
|
rs1167387894
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3886_3888delinsACA (p.Pro1296Thr)
|
rs876660859
|
|
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=)
|
rs2135707669
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.3895del (p.Ala1299fs)
|
rs786203501
|
|
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val)
|
rs786203287
|
|
NM_000051.4(ATM):c.3897C>G (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.38G>T (p.Arg13Leu)
|
rs778201041
|
|
NM_000051.4(ATM):c.3901G>A (p.Glu1301Lys)
|
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)
|
rs2135707999
|
|
NM_000051.4(ATM):c.3904G>T (p.Gly1302Cys)
|
|
|
NM_000051.4(ATM):c.3905G>A (p.Gly1302Asp)
|
|
|
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala)
|
rs1060501662
|
|
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
|
|
|
NM_000051.4(ATM):c.3908C>G (p.Thr1303Ser)
|
|
|
NM_000051.4(ATM):c.3908C>T (p.Thr1303Ile)
|
|
|
NM_000051.4(ATM):c.3908_3910del (p.Thr1303del)
|
|
|
NM_000051.4(ATM):c.3909C>T (p.Thr1303=)
|
rs1555093618
|
|
NM_000051.4(ATM):c.390T>A (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.390T>C (p.Asp130=)
|
rs1565356801
|
|
NM_000051.4(ATM):c.390T>G (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly)
|
rs1565447611
|
|
NM_000051.4(ATM):c.3912A>G (p.Arg1304=)
|
|
|
NM_000051.4(ATM):c.3915C>G (p.Asp1305Glu)
|
rs1429663437
|
|
NM_000051.4(ATM):c.3915C>T (p.Asp1305=)
|
rs1429663437
|
|
NM_000051.4(ATM):c.3916A>G (p.Ser1306Gly)
|
|
|
NM_000051.4(ATM):c.3918T>A (p.Ser1306Arg)
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.391T>C (p.Ser131Pro)
|
rs876658263
|
|
NM_000051.4(ATM):c.3923T>C (p.Met1308Thr)
|
rs1555093651
|
|
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro)
|
rs149711770
|
|
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
|
|
|
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)
|
rs1555093665
|
|
NM_000051.4(ATM):c.392C>A (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
|
|
|
NM_000051.4(ATM):c.3930G>A (p.Gln1310=)
|
|
|
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)
|
rs200976093
|
|
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro)
|
rs2135708785
|
|
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly)
|
rs864622137
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln)
|
rs3092841
|
|
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly)
|
rs1555093695
|
|
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp)
|
rs2082386564
|
|
NM_000051.4(ATM):c.393A>G (p.Ser131=)
|
|
|
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile)
|
rs751678973
|
|
NM_000051.4(ATM):c.3944C>T (p.Ala1315Val)
|
|
|
NM_000051.4(ATM):c.3946A>C (p.Thr1316Pro)
|
|
|
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala)
|
rs1555093708
|
|
NM_000051.4(ATM):c.3948C>T (p.Thr1316=)
|
rs2135709208
|
|
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)
|
rs786203851
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly)
|
rs1565447790
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
NM_000051.4(ATM):c.3960T>C (p.Asp1320=)
|
rs995275833
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
NM_000051.4(ATM):c.3961dup (p.Met1321fs)
|
rs1591646429
|
|
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr)
|
rs928038643
|
|
NM_000051.4(ATM):c.3965T>A (p.Leu1322His)
|
rs786203306
|
|
NM_000051.4(ATM):c.3972T>A (p.Ser1324Arg)
|
rs1165340615
|
|
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser)
|
rs878853507
|
|
NM_000051.4(ATM):c.3979T>C (p.Leu1327=)
|
rs2135709876
|
|
NM_000051.4(ATM):c.397A>G (p.Asn133Asp)
|
rs1565356855
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3981A>C (p.Leu1327Phe)
|
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
|
|
|
NM_000051.4(ATM):c.3984G>A (p.Leu1328=)
|
rs1591646593
|
|
NM_000051.4(ATM):c.398A>G (p.Asn133Ser)
|
rs730881330
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+10C>T
|
rs587782262
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3993+2T>A
|
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
NM_000051.4(ATM):c.3993+3A>T
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
NM_000051.4(ATM):c.3993+5G>A
|
rs3092842
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.3994-162G>A
|
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu)
|
rs1064793534
|
|
NM_000051.4(ATM):c.3994A>G (p.Ile1332Val)
|
|
|
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
|
|
|
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met)
|
rs1180449859
|
|
NM_000051.4(ATM):c.399T>A (p.Asn133Lys)
|
rs1555059218
|
|
NM_000051.4(ATM):c.399T>C (p.Asn133=)
|
|
|
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
|
|
|
NM_000051.4(ATM):c.4002C>T (p.His1334=)
|
rs876659622
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
NM_000051.4(ATM):c.4006T>G (p.Phe1336Val)
|
|
|
NM_000051.4(ATM):c.4010T>C (p.Ile1337Thr)
|
rs1060501660
|
|
NM_000051.4(ATM):c.4010T>G (p.Ile1337Ser)
|
rs1060501660
|
|
NM_000051.4(ATM):c.4013G>A (p.Ser1338Asn)
|
rs1302951937
|
|
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys)
|
rs863224569
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.401G>T (p.Gly134Val)
|
rs771166271
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
NM_000051.4(ATM):c.4030G>C (p.Val1344Leu)
|
|
|
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu)
|
rs1565452575
|
|
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)
|
rs1060501528
|
|
NM_000051.4(ATM):c.4038G>A (p.Glu1346=)
|
rs1591655790
|
|
NM_000051.4(ATM):c.4038del (p.Glu1346fs)
|
|
|
NM_000051.4(ATM):c.403G>A (p.Ala135Thr)
|
rs1272089657
|
|
NM_000051.4(ATM):c.4044G>C (p.Leu1348Phe)
|
|
|
NM_000051.4(ATM):c.404C>G (p.Ala135Gly)
|
rs1555059254
|
|
NM_000051.4(ATM):c.4051T>A (p.Leu1351Ile)
|
rs1591655873
|
|
NM_000051.4(ATM):c.4052T>C (p.Leu1351Ser)
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4054C>T (p.His1352Tyr)
|
rs1591655903
|
|
NM_000051.4(ATM):c.4055A>T (p.His1352Leu)
|
rs925124248
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
NM_000051.4(ATM):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly)
|
rs917721053
|
|
NM_000051.4(ATM):c.405T>G (p.Ala135=)
|
rs2135123254
|
|
NM_000051.4(ATM):c.4062A>G (p.Pro1354=)
|
|
|
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu)
|
rs1591655990
|
|
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr)
|
rs2135736874
|
|
NM_000051.4(ATM):c.406A>G (p.Ile136Val)
|
rs780941782
|
|
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr)
|
rs730881390
|
|
NM_000051.4(ATM):c.4075G>A (p.Ala1359Thr)
|
rs1591656042
|
|
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp)
|
rs1565452823
|
|
NM_000051.4(ATM):c.4077C>G (p.Ala1359=)
|
rs375606854
|
|
NM_000051.4(ATM):c.4077C>T (p.Ala1359=)
|
|
|
NM_000051.4(ATM):c.4079G>T (p.Ser1360Ile)
|
|
|
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)
|
rs863224570
|
|
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)
|
rs886039488
|
|
NM_000051.4(ATM):c.4085G>C (p.Ser1362Thr)
|
|
|
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala)
|
rs587779837
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)
|
rs876660956
|
|
NM_000051.4(ATM):c.4092C>T (p.Asp1364=)
|
rs876660956
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
|
|
|
NM_000051.4(ATM):c.4095C>A (p.Leu1365=)
|
|
|
NM_000051.4(ATM):c.4095C>G (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4095C>T (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4095_4096dup (p.Cys1366fs)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4099G>T (p.Asp1367Tyr)
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4108G>T (p.Gly1370Trp)
|
|
|
NM_000051.4(ATM):c.4109+1G>A
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+3A>G
|
rs1388807238
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe)
|
rs547082881
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-4T>G
|
rs777186156
|
|
NM_000051.4(ATM):c.4110-5G>C
|
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val)
|
rs762242838
|
|
NM_000051.4(ATM):c.4118A>G (p.Asp1373Gly)
|
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.4122T>C (p.Pro1374=)
|
|
|
NM_000051.4(ATM):c.4125T>A (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4125T>C (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala)
|
rs863224571
|
|
NM_000051.4(ATM):c.4126C>T (p.Pro1376Ser)
|
|
|
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg)
|
rs786202406
|
|
NM_000051.4(ATM):c.4131T>C (p.Asn1377=)
|
rs2082639582
|
|
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_000051.4(ATM):c.4138C>G (p.His1380Asp)
|
|
|
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu)
|
rs1555096841
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4144C>G (p.Pro1382Ala)
|
|
|
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)
|
rs752460436
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)
|
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)
|
rs876660576
|
|
NM_000051.4(ATM):c.4151A>C (p.His1384Pro)
|
rs757172522
|
|
NM_000051.4(ATM):c.4152T>C (p.His1384=)
|
rs1555096888
|
|
NM_000051.4(ATM):c.4155G>A (p.Val1385=)
|
rs2082641997
|
|
NM_000051.4(ATM):c.4155G>T (p.Val1385=)
|
|
|
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met)
|
rs879254026
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000051.4(ATM):c.4161A>C (p.Lys1387Asn)
|
|
|
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
NM_000051.4(ATM):c.4164A>G (p.Ala1388=)
|
|
|
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr)
|
rs2135752151
|
|
NM_000051.4(ATM):c.4172C>G (p.Ala1391Gly)
|
|
|
NM_000051.4(ATM):c.4173C>A (p.Ala1391=)
|
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys)
|
rs876658239
|
|
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu)
|
rs1565455097
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4179C>T (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)
|
rs375396787
|
|
NM_000051.4(ATM):c.4185T>C (p.Asn1395=)
|
rs2135752553
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
NM_000051.4(ATM):c.418G>C (p.Asp140His)
|
rs55633650
|
|
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala)
|
rs1555096955
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
NM_000051.4(ATM):c.4199A>C (p.Lys1400Thr)
|
|
|
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
|
|
|
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs)
|
rs1591660745
|
|
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
|
|
|
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)
|
rs768726324
|
|
NM_000051.4(ATM):c.4208G>A (p.Ser1403Asn)
|
|
|
NM_000051.4(ATM):c.4209C>T (p.Ser1403=)
|
rs876658701
|
|
NM_000051.4(ATM):c.420T>A (p.Asp140Glu)
|
rs1591475108
|
|
NM_000051.4(ATM):c.420T>C (p.Asp140=)
|
rs1591475108
|
|
NM_000051.4(ATM):c.4212T>C (p.Ile1404=)
|
|
|
NM_000051.4(ATM):c.4213T>G (p.Leu1405Val)
|
|
|
NM_000051.4(ATM):c.4215A>G (p.Leu1405=)
|
|
|
NM_000051.4(ATM):c.4217A>G (p.Glu1406Gly)
|
|
|
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val)
|
rs1382006540
|
|
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)
|
rs1565357020
|
|
NM_000051.4(ATM):c.4221T>C (p.Ile1407=)
|
|
|
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe)
|
rs1565455224
|
|
NM_000051.4(ATM):c.4225del (p.Ser1409fs)
|
rs2082647388
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg)
|
rs2082647905
|
|
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr)
|
rs745890227
|
|
NM_000051.4(ATM):c.422G>T (p.Cys141Phe)
|
|
|
NM_000051.4(ATM):c.4235C>A (p.Pro1412His)
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4236+2dup
|
|
|
NM_000051.4(ATM):c.4236+4A>G
|
|
|
NM_000051.4(ATM):c.4236T>C (p.Pro1412=)
|
|
|
NM_000051.4(ATM):c.4237-2A>G
|
rs1591662492
|
|
NM_000051.4(ATM):c.4237-3T>C
|
|
|
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)
|
rs1565455938
|
|
NM_000051.4(ATM):c.4241C>G (p.Ser1414Cys)
|
rs876659292
|
|
NM_000051.4(ATM):c.4241C>T (p.Ser1414Phe)
|
|
|
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)
|
rs876660540
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
NM_000051.4(ATM):c.424A>G (p.Ser142Gly)
|
|
|
NM_000051.4(ATM):c.4252A>G (p.Ile1418Val)
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
NM_000051.4(ATM):c.4256T>G (p.Leu1419Arg)
|
|
|
NM_000051.4(ATM):c.4256_4258delinsCTT (p.Leu1419_Leu1420delinsProPhe)
|
|
|
NM_000051.4(ATM):c.4259T>C (p.Leu1420Pro)
|
rs1591662657
|
|
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
|
|
|
NM_000051.4(ATM):c.4263C>G (p.Ala1421=)
|
rs1373073134
|
|
NM_000051.4(ATM):c.4263C>T (p.Ala1421=)
|
rs1373073134
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
|
NM_000051.4(ATM):c.4264A>T (p.Ile1422Leu)
|
rs562445932
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
NM_000051.4(ATM):c.4267del (p.Cys1423fs)
|
|
|
NM_000051.4(ATM):c.426C>T (p.Ser142=)
|
|
|
NM_000051.4(ATM):c.4276G>A (p.Ala1426Thr)
|
|
|
NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu)
|
|
|
NM_000051.4(ATM):c.427A>G (p.Asn143Asp)
|
rs587781688
|
|
NM_000051.4(ATM):c.4281T>C (p.Ala1427=)
|
rs876659745
|
|
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)
|
rs1369272813
|
|
NM_000051.4(ATM):c.4284A>C (p.Glu1428Asp)
|
rs1555097441
|
|
NM_000051.4(ATM):c.4287A>C (p.Thr1429=)
|
rs1591662793
|
|
NM_000051.4(ATM):c.4289A>G (p.Asn1430Ser)
|
rs876658870
|
|
NM_000051.4(ATM):c.428A>G (p.Asn143Ser)
|
rs1565357066
|
|
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser)
|
rs201356803
|
|
NM_000051.4(ATM):c.4292A>T (p.Asn1431Ile)
|
|
|
NM_000051.4(ATM):c.4295T>G (p.Val1432Gly)
|
rs1131691150
|
|
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp)
|
rs876659559
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.4302G>A (p.Lys1434=)
|
rs876658751
|
|
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln)
|
rs876660964
|
|
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg)
|
rs769980220
|
|
NM_000051.4(ATM):c.4306C>G (p.His1436Asp)
|
|
|
NM_000051.4(ATM):c.430A>G (p.Ile144Val)
|
rs1555059323
|
|
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys)
|
rs1227046364
|
|
NM_000051.4(ATM):c.4310G>T (p.Arg1437Ile)
|
|
|
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
|
|
|
NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser)
|
rs1591663009
|
|
NM_000051.4(ATM):c.4315C>G (p.Leu1439Val)
|
rs1591663019
|
|
NM_000051.4(ATM):c.4318A>C (p.Lys1440Gln)
|
|
|
NM_000051.4(ATM):c.4318A>G (p.Lys1440Glu)
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr)
|
rs1469317936
|
|
NM_000051.4(ATM):c.4323A>C (p.Ile1441=)
|
rs587779839
|
|
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met)
|
rs587779839
|
|
NM_000051.4(ATM):c.4323A>T (p.Ile1441=)
|
rs587779839
|
|
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys)
|
rs1565456320
|
|
NM_000051.4(ATM):c.4328A>G (p.His1443Arg)
|
|
|
NM_000051.4(ATM):c.4329C>G (p.His1443Gln)
|
|
|
NM_000051.4(ATM):c.4330C>T (p.Leu1444=)
|
rs2135762205
|
|
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln)
|
rs2082676298
|
|
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)
|
rs753570046
|
|
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu)
|
rs1060501683
|
|
NM_000051.4(ATM):c.4334T>C (p.Phe1445Ser)
|
|
|
NM_000051.4(ATM):c.4335T>C (p.Phe1445=)
|
rs761225071
|
|
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)
|
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
NM_000051.4(ATM):c.4335dup (p.Val1446fs)
|
rs1555097571
|
|
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)
|
rs1591663236
|
|
NM_000051.4(ATM):c.433C>A (p.Leu145Ile)
|
rs587782328
|
|
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs)
|
rs1565456465
|
|
NM_000051.4(ATM):c.4344A>T (p.Leu1448Phe)
|
|
|
NM_000051.4(ATM):c.4345T>C (p.Leu1449=)
|
rs786201555
|
|
NM_000051.4(ATM):c.4346T>C (p.Leu1449Ser)
|
rs2082678060
|
|
NM_000051.4(ATM):c.4347A>C (p.Leu1449Phe)
|
rs764787081
|
|
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
|
|
|
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro)
|
rs750306932
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
NM_000051.4(ATM):c.4350G>A (p.Leu1450=)
|
rs1565456541
|
|
NM_000051.4(ATM):c.4353A>G (p.Lys1451=)
|
rs1565456555
|
|
NM_000051.4(ATM):c.4354G>C (p.Asp1452His)
|
rs1012695949
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs)
|
rs587782863
|
|
NM_000051.4(ATM):c.435A>G (p.Leu145=)
|
rs775476710
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
NM_000051.4(ATM):c.4363del (p.Ser1455fs)
|
rs1591663478
|
|
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp)
|
rs894398811
|
|
NM_000051.4(ATM):c.4368C>G (p.Gly1456=)
|
rs1555097677
|
|
NM_000051.4(ATM):c.4369T>G (p.Leu1457Val)
|
|
|
NM_000051.4(ATM):c.436C>G (p.Leu146Val)
|
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4373G>A (p.Gly1458Glu)
|
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)
|
rs376165779
|
|
NM_000051.4(ATM):c.4380T>G (p.Ala1460=)
|
rs1565456739
|
|
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg)
|
rs982008501
|
|
NM_000051.4(ATM):c.4384G>C (p.Ala1462Pro)
|
|
|
NM_000051.4(ATM):c.4385C>A (p.Ala1462Asp)
|
|
|
NM_000051.4(ATM):c.4386C>T (p.Ala1462=)
|
rs1433672958
|
|
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
|
|
|
NM_000051.4(ATM):c.4389T>C (p.Phe1463=)
|
rs1555097753
|
|
NM_000051.4(ATM):c.438C>G (p.Leu146=)
|
rs1591475272
|
|
NM_000051.4(ATM):c.4393C>G (p.Leu1465Val)
|
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.4398A>T (p.Arg1466=)
|
rs142728382
|
|
NM_000051.4(ATM):c.43C>T (p.Leu15=)
|
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
NM_000051.4(ATM):c.4401C>G (p.Asp1467Glu)
|
|
|
NM_000051.4(ATM):c.4404T>C (p.Val1468=)
|
rs1555097801
|
|
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys)
|
rs1591663898
|
|
NM_000051.4(ATM):c.440_441del (p.Lys147fs)
|
|
|
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)
|
rs1057521912
|
|
NM_000051.4(ATM):c.4412C>A (p.Thr1471Asn)
|
|
|
NM_000051.4(ATM):c.4415T>G (p.Leu1472Trp)
|
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met)
|
rs2082685196
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
NM_000051.4(ATM):c.4420C>A (p.His1474Asn)
|
rs587779840
|
|
NM_000051.4(ATM):c.4421A>G (p.His1474Arg)
|
rs2082685461
|
|
NM_000051.4(ATM):c.4422C>T (p.His1474=)
|
rs1555097849
|
|
NM_000051.4(ATM):c.4423T>G (p.Tyr1475Asp)
|
rs1475596724
|
|
NM_000051.4(ATM):c.4428C>A (p.Ile1476=)
|
|
|
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met)
|
rs876659370
|
|
NM_000051.4(ATM):c.442dup (p.Asp148fs)
|
rs1555059380
|
|
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4435_4436+10del
|
|
|
NM_000051.4(ATM):c.4436+2T>C
|
rs1555097898
|
|
NM_000051.4(ATM):c.4436+3A>G
|
rs2082686950
|
|
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)
|
rs2135767002
|
|
NM_000051.4(ATM):c.4437-5A>G
|
rs876658290
|
|
NM_000051.4(ATM):c.4437G>A (p.Arg1479=)
|
rs1591673584
|
|
NM_000051.4(ATM):c.4438C>A (p.Pro1480Thr)
|
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
NM_000051.4(ATM):c.4445G>C (p.Cys1482Ser)
|
rs201277352
|
|
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
|
|
|
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
|
|
|
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu)
|
rs2135797458
|
|
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs)
|
rs1565460896
|
|
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)
|
rs786203785
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4453_4456del (p.Asp1485fs)
|
|
|
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly)
|
rs1555099762
|
|
NM_000051.4(ATM):c.4455T>G (p.Asp1485Glu)
|
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.4456G>T (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.4458G>A (p.Val1486=)
|
rs1591673788
|
|
NM_000051.4(ATM):c.445A>G (p.Ile149Val)
|
rs1565357194
|
|
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter)
|
rs1591673803
|
|
NM_000051.4(ATM):c.4461A>C (p.Ser1487=)
|
|
|
NM_000051.4(ATM):c.4461A>G (p.Ser1487=)
|
rs2082859007
|
|
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)
|
|
|
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu)
|
rs201594549
|
|
NM_000051.4(ATM):c.446T>A (p.Ile149Asn)
|
rs587782353
|
|
NM_000051.4(ATM):c.4470C>T (p.Ser1490=)
|
rs2135798259
|
|
NM_000051.4(ATM):c.4478T>G (p.Leu1493Arg)
|
|
|
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser)
|
rs1060501576
|
|
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg)
|
rs1060501576
|
|
NM_000051.4(ATM):c.4488C>T (p.Asp1496=)
|
rs772833802
|
|
NM_000051.4(ATM):c.448C>G (p.Leu150Val)
|
rs1555059404
|
|
NM_000051.4(ATM):c.4492T>A (p.Leu1498Ile)
|
|
|
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser)
|
rs1329359780
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
NM_000051.4(ATM):c.4496G>C (p.Ser1499Thr)
|
rs1222314846
|
|
NM_000051.4(ATM):c.4498C>G (p.Gln1500Glu)
|
rs1591674064
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg)
|
rs786203789
|
|
NM_000051.4(ATM):c.4499A>T (p.Gln1500Leu)
|
|
|
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe)
|
rs370574283
|
|
NM_000051.4(ATM):c.4506C>T (p.Cys1502=)
|
rs876659908
|
|
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg)
|
rs1555099858
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile)
|
rs1060501638
|
|
NM_000051.4(ATM):c.4515C>A (p.Ala1505=)
|
rs540798997
|
|
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)
|
rs760542469
|
|
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)
|
rs1555099878
|
|
NM_000051.4(ATM):c.4518G>C (p.Val1506=)
|
rs1057524110
|
|
NM_000051.4(ATM):c.451T>C (p.Ser151Pro)
|
rs1565357241
|
|
NM_000051.4(ATM):c.4521T>G (p.Thr1507=)
|
rs1555099885
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg)
|
rs1064795574
|
|
NM_000051.4(ATM):c.452C>A (p.Ser151Tyr)
|
|
|
NM_000051.4(ATM):c.452_453del (p.Ser151fs)
|
|
|
NM_000051.4(ATM):c.4532A>G (p.Asp1511Gly)
|
rs1591674356
|
|
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val)
|
rs1591674356
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4535C>A (p.Ala1512Asp)
|
rs1591674385
|
|
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val)
|
rs1591674385
|
|
NM_000051.4(ATM):c.4536T>C (p.Ala1512=)
|
rs1555099909
|
|
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val)
|
rs2082867393
|
|
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
|
|
|
NM_000051.4(ATM):c.4543A>G (p.Asn1515Asp)
|
|
|
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4547A>G (p.His1516Arg)
|
rs1565461434
|
|
NM_000051.4(ATM):c.454G>A (p.Val152Met)
|
|
|
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer)
|
rs1555059421
|
|
NM_000051.4(ATM):c.4551T>C (p.Leu1517=)
|
rs1459998980
|
|
NM_000051.4(ATM):c.4553A>G (p.His1518Arg)
|
rs762132832
|
|
NM_000051.4(ATM):c.4555G>A (p.Val1519Ile)
|
rs969120822
|
|
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu)
|
rs765195241
|
|
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
|
|
|
NM_000051.4(ATM):c.4560T>G (p.Ile1520Met)
|
|
|
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala)
|
rs786202673
|
|
NM_000051.4(ATM):c.4563_4565delinsCA (p.Gly1522fs)
|
|
|
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4569A>C (p.Thr1523=)
|
rs1555099963
|
|
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile)
|
rs780603110
|
|
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val)
|
rs780603110
|
|
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe)
|
rs780603110
|
|
NM_000051.4(ATM):c.4574_4578delinsCT (p.Ile1525_Pro1526delinsThr)
|
rs1591674657
|
|
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met)
|
rs781539071
|
|
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)
|
rs748898098
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu)
|
rs770590652
|
|
NM_000051.4(ATM):c.4578_4580delinsTCG (p.Leu1527Arg)
|
|
|
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)
|
rs1555099997
|
|
NM_000051.4(ATM):c.4579C>T (p.Leu1527Phe)
|
rs1555099997
|
|
NM_000051.4(ATM):c.4580T>C (p.Leu1527Pro)
|
|
|
NM_000051.4(ATM):c.4580T>G (p.Leu1527Arg)
|
|
|
NM_000051.4(ATM):c.4584dup (p.Tyr1529fs)
|
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4589A>T (p.Glu1530Val)
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4593G>A (p.Gln1531=)
|
rs1591674814
|
|
NM_000051.4(ATM):c.4596G>T (p.Val1532=)
|
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
NM_000051.4(ATM):c.4611+4A>G
|
rs1591674933
|
|
NM_000051.4(ATM):c.4611G>C (p.Gln1537His)
|
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4612-5T>C
|
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
NM_000051.4(ATM):c.4616T>C (p.Leu1539Ser)
|
rs1591676806
|
|
NM_000051.4(ATM):c.4617G>A (p.Leu1539=)
|
rs1179885415
|
|
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn)
|
rs778622948
|
|
NM_000051.4(ATM):c.4618G>C (p.Asp1540His)
|
rs778622948
|
|
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)
|
rs1329153013
|
|
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe)
|
rs3092849
|
|
NM_000051.4(ATM):c.4624T>C (p.Leu1542=)
|
rs876658826
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.462A>G (p.Lys154=)
|
rs876659923
|
|
NM_000051.4(ATM):c.462del (p.Lys154fs)
|
|
|
NM_000051.4(ATM):c.4631A>T (p.Tyr1544Phe)
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
NM_000051.4(ATM):c.463T>C (p.Tyr155His)
|
|
|
NM_000051.4(ATM):c.463T>G (p.Tyr155Asp)
|
rs1555059450
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)
|
rs1448017467
|
|
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)
|
|
|
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys)
|
rs1300874775
|
|
NM_000051.4(ATM):c.4648A>G (p.Lys1550Glu)
|
rs1555100449
|
|
NM_000051.4(ATM):c.4650G>T (p.Lys1550Asn)
|
rs876660003
|
|
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly)
|
rs1555100455
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
NM_000051.4(ATM):c.465C>T (p.Tyr155=)
|
rs2079245609
|
|
NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4662C>T (p.Asn1554=)
|
rs776761757
|
|
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe)
|
rs1555100478
|
|
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4665C>G (p.Leu1555=)
|
rs374431061
|
|
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser)
|
rs587782037
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met)
|
rs966733287
|
|
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys)
|
rs587781712
|
|
NM_000051.4(ATM):c.4675A>G (p.Ile1559Val)
|
|
|
NM_000051.4(ATM):c.4677T>C (p.Ile1559=)
|
rs759660081
|
|
NM_000051.4(ATM):c.467G>C (p.Trp156Ser)
|
rs876658159
|
|
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe)
|
rs1591677342
|
|
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)
|
rs886039515
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
NM_000051.4(ATM):c.468G>C (p.Trp156Cys)
|
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
NM_000051.4(ATM):c.4700A>T (p.Asp1567Val)
|
|
|
NM_000051.4(ATM):c.4701C>T (p.Asp1567=)
|
rs1591677421
|
|
NM_000051.4(ATM):c.4704T>C (p.His1568=)
|
rs1057522200
|
|
NM_000051.4(ATM):c.4706T>A (p.Val1569Asp)
|
rs1555100549
|
|
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
|
|
|
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
|
|
|
NM_000051.4(ATM):c.470G>T (p.Cys157Phe)
|
rs1591475486
|
|
NM_000051.4(ATM):c.4713T>C (p.Phe1571=)
|
rs750027746
|
|
NM_000051.4(ATM):c.4719T>C (p.Asp1573=)
|
|
|
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly)
|
rs1408892416
|
|
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys)
|
rs1408892416
|
|
NM_000051.4(ATM):c.4724G>T (p.Arg1575Leu)
|
|
|
NM_000051.4(ATM):c.4725T>C (p.Arg1575=)
|
rs1555100576
|
|
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val)
|
rs2082921955
|
|
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr)
|
rs2082922133
|
|
NM_000051.4(ATM):c.4730C>G (p.Thr1577Ser)
|
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val)
|
rs1565463271
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4742T>G (p.Ile1581Ser)
|
|
|
NM_000051.4(ATM):c.4743C>A (p.Ile1581=)
|
|
|
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met)
|
rs1591677662
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=)
|
rs1555100597
|
|
NM_000051.4(ATM):c.4752T>C (p.Ser1584=)
|
rs1555100601
|
|
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)
|
rs781275128
|
|
NM_000051.4(ATM):c.4754G>A (p.Arg1585Lys)
|
|
|
NM_000051.4(ATM):c.4755A>G (p.Arg1585=)
|
|
|
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg)
|
rs1565463314
|
|
NM_000051.4(ATM):c.4757G>A (p.Gly1586Glu)
|
|
|
NM_000051.4(ATM):c.4758A>T (p.Gly1586=)
|
rs2135813614
|
|
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
|
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
NM_000051.4(ATM):c.4760C>A (p.Pro1587His)
|
rs748044422
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
NM_000051.4(ATM):c.4773G>T (p.Leu1591Phe)
|
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
NM_000051.4(ATM):c.4776+1G>A
|
|
|
NM_000051.4(ATM):c.4776+1G>C
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.4776+4A>G
|
rs1591677924
|
|
NM_000051.4(ATM):c.4776G>A (p.Glu1592=)
|
rs786202973
|
|
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)
|
rs786202973
|
|
NM_000051.4(ATM):c.4776G>T (p.Glu1592Asp)
|
|
|
NM_000051.4(ATM):c.4777-5T>G
|
|
|
NM_000051.4(ATM):c.477A>G (p.Ile159Met)
|
rs786202644
|
|
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val)
|
rs1555101615
|
|
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr)
|
rs1555101621
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.4786C>G (p.His1596Asp)
|
rs1555101635
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
|
|
|
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter)
|
rs1591684337
|
|
NM_000051.4(ATM):c.4796C>T (p.Ser1599Leu)
|
|
|
NM_000051.4(ATM):c.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
NM_000051.4(ATM):c.479C>T (p.Ser160Phe)
|
rs35858242
|
|
NM_000051.4(ATM):c.4800A>T (p.Val1600=)
|
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly)
|
rs876660520
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4805T>G (p.Val1602Gly)
|
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
NM_000051.4(ATM):c.4808A>G (p.Tyr1603Cys)
|
|
|
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly)
|
rs1591684476
|
|
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr)
|
rs1555101706
|
|
NM_000051.4(ATM):c.4813G>T (p.Ala1605Ser)
|
|
|
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)
|
rs786203520
|
|
NM_000051.4(ATM):c.4815A>C (p.Ala1605=)
|
rs1591684513
|
|
NM_000051.4(ATM):c.4815A>G (p.Ala1605=)
|
|
|
NM_000051.4(ATM):c.4817T>G (p.Leu1606Arg)
|
rs1555101727
|
|
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)
|
rs772074468
|
|
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr)
|
rs1178015475
|
|
NM_000051.4(ATM):c.4820del (p.Pro1607fs)
|
rs2135834949
|
|
NM_000051.4(ATM):c.4824G>A (p.Leu1608=)
|
rs1239479673
|
|
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)
|
rs761197886
|
|
NM_000051.4(ATM):c.4826C>T (p.Thr1609Ile)
|
|
|
NM_000051.4(ATM):c.4827A>T (p.Thr1609=)
|
|
|
NM_000051.4(ATM):c.4828A>C (p.Arg1610=)
|
|
|
NM_000051.4(ATM):c.482A>C (p.Gln161Pro)
|
rs587780625
|
|
NM_000051.4(ATM):c.482A>G (p.Gln161Arg)
|
rs587780625
|
|
NM_000051.4(ATM):c.4830A>G (p.Arg1610=)
|
|
|
NM_000051.4(ATM):c.4830A>T (p.Arg1610Ser)
|
|
|
NM_000051.4(ATM):c.4831C>G (p.Leu1611Val)
|
rs1026156596
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4833T>G (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4834G>C (p.Glu1612Gln)
|
|
|
NM_000051.4(ATM):c.4836A>G (p.Glu1612=)
|
rs2135835525
|
|
NM_000051.4(ATM):c.483G>A (p.Gln161=)
|
rs864622742
|
|
NM_000051.4(ATM):c.483G>C (p.Gln161His)
|
rs864622742
|
|
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)
|
rs777239020
|
|
NM_000051.4(ATM):c.4842A>G (p.Leu1614=)
|
rs1057520429
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn)
|
rs888498126
|
|
NM_000051.4(ATM):c.4853G>T (p.Arg1618Leu)
|
rs765759912
|
|
NM_000051.4(ATM):c.4855A>G (p.Arg1619Gly)
|
rs1555101835
|
|
NM_000051.4(ATM):c.4857A>G (p.Arg1619=)
|
rs1555101850
|
|
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)
|
rs1057520446
|
|
NM_000051.4(ATM):c.4862T>G (p.Leu1621Arg)
|
|
|
NM_000051.4(ATM):c.4863G>A (p.Leu1621=)
|
|
|
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln)
|
rs2083042425
|
|
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly)
|
rs1555101872
|
|
NM_000051.4(ATM):c.4867C>T (p.Leu1623=)
|
|
|
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
NM_000051.4(ATM):c.4868T>G (p.Leu1623Arg)
|
|
|
NM_000051.4(ATM):c.4871A>C (p.His1624Pro)
|
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
NM_000051.4(ATM):c.487C>G (p.Gln163Glu)
|
rs1591475608
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4881G>A (p.Gln1627=)
|
|
|
NM_000051.4(ATM):c.4883T>C (p.Met1628Thr)
|
|
|
NM_000051.4(ATM):c.4885G>A (p.Val1629Met)
|
rs876660748
|
|
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu)
|
rs876660748
|
|
NM_000051.4(ATM):c.4885dup (p.Val1629fs)
|
rs1555101915
|
|
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
|
|
|
NM_000051.4(ATM):c.4887G>T (p.Val1629=)
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)
|
rs1565466579
|
|
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)
|
rs1591685165
|
|
NM_000051.4(ATM):c.4891A>G (p.Ile1631Val)
|
|
|
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser)
|
rs1060501674
|
|
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile)
|
rs933030670
|
|
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly)
|
rs1591685231
|
|
NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)
|
|
|
NM_000051.4(ATM):c.4898G>C (p.Arg1633Thr)
|
|
|
NM_000051.4(ATM):c.4898G>T (p.Arg1633Ile)
|
rs1555101943
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr)
|
rs1565466632
|
|
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs)
|
rs1591685276
|
|
NM_000051.4(ATM):c.4902T>G (p.Ala1634=)
|
|
|
NM_000051.4(ATM):c.4905_4909+16del
|
|
|
NM_000051.4(ATM):c.4909+17A>G
|
rs550300834
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr)
|
rs753870656
|
|
NM_000051.4(ATM):c.490_496del (p.Trp164fs)
|
|
|
NM_000051.4(ATM):c.4910-2A>T
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-891G>A
|
|
|
NM_000051.4(ATM):c.4910-942G>T
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg)
|
rs752459491
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4917G>C (p.Pro1639=)
|
|
|
NM_000051.4(ATM):c.4917G>T (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro)
|
rs1555103190
|
|
NM_000051.4(ATM):c.4921G>A (p.Asp1641Asn)
|
|
|
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
|
|
|
NM_000051.4(ATM):c.4928T>A (p.Ile1643Asn)
|
rs1555103201
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr)
|
rs55843558
|
|
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile)
|
rs730881371
|
|
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu)
|
rs757381170
|
|
NM_000051.4(ATM):c.4935G>C (p.Val1645=)
|
|
|
NM_000051.4(ATM):c.4938A>C (p.Lys1646Asn)
|
|
|
NM_000051.4(ATM):c.4938A>G (p.Lys1646=)
|
rs1171877755
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.4939C>T (p.Leu1647=)
|
rs1157451668
|
|
NM_000051.4(ATM):c.4941A>G (p.Leu1647=)
|
rs786201667
|
|
NM_000051.4(ATM):c.4941A>T (p.Leu1647=)
|
|
|
NM_000051.4(ATM):c.4941_4943del (p.Val1649del)
|
rs1591692664
|
|
NM_000051.4(ATM):c.4947C>A (p.Val1649=)
|
|
|
NM_000051.4(ATM):c.4947C>G (p.Val1649=)
|
rs1436324961
|
|
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)
|
rs55870064
|
|
NM_000051.4(ATM):c.4952T>C (p.Leu1651Ser)
|
rs1555103237
|
|
NM_000051.4(ATM):c.4952T>G (p.Leu1651Trp)
|
rs1555103237
|
|
NM_000051.4(ATM):c.4953G>A (p.Leu1651=)
|
rs786201297
|
|
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe)
|
rs786201297
|
|
NM_000051.4(ATM):c.4956G>A (p.Leu1652=)
|
rs2135862508
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.496+1G>A
|
rs876658500
|
|
NM_000051.4(ATM):c.496+286A>G
|
|
|
NM_000051.4(ATM):c.496+334A>G
|
|
|
NM_000051.4(ATM):c.496+4T>A
|
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.4960T>C (p.Leu1654=)
|
|
|
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser)
|
rs587781679
|
|
NM_000051.4(ATM):c.4962A>G (p.Leu1654=)
|
rs2135862796
|
|
NM_000051.4(ATM):c.4965C>A (p.Ser1655=)
|
|
|
NM_000051.4(ATM):c.4965C>T (p.Ser1655=)
|
rs1555103252
|
|
NM_000051.4(ATM):c.4966A>C (p.Lys1656Gln)
|
rs1565470010
|
|
NM_000051.4(ATM):c.4968G>A (p.Lys1656=)
|
|
|
NM_000051.4(ATM):c.496G>A (p.Glu166Lys)
|
rs1565357473
|
|
NM_000051.4(ATM):c.497-1142dup
|
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.497-2661A>G
|
rs1591491477
|
|
NM_000051.4(ATM):c.497-3A>C
|
|
|
NM_000051.4(ATM):c.497-3A>T
|
rs1046559213
|
|
NM_000051.4(ATM):c.497-4T>G
|
rs876659621
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.497-7_497-4del
|
|
|
NM_000051.4(ATM):c.4970T>A (p.Met1657Lys)
|
rs1555103260
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
NM_000051.4(ATM):c.4974A>G (p.Ala1658=)
|
|
|
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
|
|
|
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr)
|
rs1555103271
|
|
NM_000051.4(ATM):c.4976T>G (p.Ile1659Arg)
|
rs1555103271
|
|
NM_000051.4(ATM):c.4977A>C (p.Ile1659=)
|
|
|
NM_000051.4(ATM):c.497A>G (p.Glu166Gly)
|
rs863224573
|
|
NM_000051.4(ATM):c.497A>T (p.Glu166Val)
|
rs863224573
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
NM_000051.4(ATM):c.4981C>A (p.His1661Asn)
|
rs1591692950
|
|
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr)
|
|
|
NM_000051.4(ATM):c.4982A>G (p.His1661Arg)
|
rs1555103285
|
|
NM_000051.4(ATM):c.4983C>G (p.His1661Gln)
|
|
|
NM_000051.4(ATM):c.4983C>T (p.His1661=)
|
rs2083180642
|
|
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)
|
rs1591692969
|
|
NM_000051.4(ATM):c.4986T>A (p.Thr1662=)
|
rs2083180883
|
|
NM_000051.4(ATM):c.4986T>C (p.Thr1662=)
|
|
|
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
NM_000051.4(ATM):c.4989T>A (p.Gly1663=)
|
|
|
NM_000051.4(ATM):c.4989T>C (p.Gly1663=)
|
|
|
NM_000051.4(ATM):c.4989T>G (p.Gly1663=)
|
rs1591693006
|
|
NM_000051.4(ATM):c.498A>G (p.Glu166=)
|
rs587779842
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.4990G>A (p.Glu1664Lys)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4994AAG[1] (p.Glu1666del)
|
rs876660918
|
|
NM_000051.4(ATM):c.4994_4999del (p.Lys1665_Val1667delinsIle)
|
|
|
NM_000051.4(ATM):c.4998A>G (p.Glu1666=)
|
|
|
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile)
|
rs780137734
|
|
NM_000051.4(ATM):c.4A>G (p.Ser2Gly)
|
rs1591445677
|
|
NM_000051.4(ATM):c.5001T>G (p.Val1667=)
|
|
|
NM_000051.4(ATM):c.5003T>C (p.Leu1668Pro)
|
|
|
NM_000051.4(ATM):c.5003T>G (p.Leu1668Arg)
|
|
|
NM_000051.4(ATM):c.5004A>G (p.Leu1668=)
|
rs768565424
|
|
NM_000051.4(ATM):c.5006-2A>G
|
rs2135887733
|
|
NM_000051.4(ATM):c.5006-4G>A
|
rs1591701752
|
|
NM_000051.4(ATM):c.5006-5T>A
|
rs1555104475
|
|
NM_000051.4(ATM):c.5010T>A (p.Ala1670=)
|
|
|
NM_000051.4(ATM):c.5010T>G (p.Ala1670=)
|
rs1555104482
|
|
NM_000051.4(ATM):c.5011G>C (p.Val1671Leu)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5013T>A (p.Val1671=)
|
|
|
NM_000051.4(ATM):c.5013T>G (p.Val1671=)
|
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
NM_000051.4(ATM):c.5016A>C (p.Gly1672=)
|
|
|
NM_000051.4(ATM):c.5016A>G (p.Gly1672=)
|
|
|
NM_000051.4(ATM):c.5016A>T (p.Gly1672=)
|
|
|
NM_000051.4(ATM):c.5019C>T (p.Ser1673=)
|
rs1565473483
|
|
NM_000051.4(ATM):c.501G>A (p.Leu167=)
|
rs1181703620
|
|
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg)
|
rs1555104511
|
|
NM_000051.4(ATM):c.5023T>C (p.Leu1675=)
|
rs876660275
|
|
NM_000051.4(ATM):c.5034G>C (p.Val1678=)
|
rs1555104548
|
|
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5038C>G (p.Pro1680Ala)
|
rs1565473572
|
|
NM_000051.4(ATM):c.503T>A (p.Phe168Tyr)
|
rs1591499616
|
|
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val)
|
rs1298268285
|
|
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr)
|
rs1307715383
|
|
NM_000051.4(ATM):c.5043A>C (p.Ile1681=)
|
|
|
NM_000051.4(ATM):c.5044G>C (p.Asp1682His)
|
rs121434217
|
|
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)
|
|
|
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly)
|
rs980731959
|
|
NM_000051.4(ATM):c.5045A>T (p.Asp1682Val)
|
rs980731959
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
NM_000051.4(ATM):c.504del (p.Ser169fs)
|
|
|
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr)
|
rs1591702098
|
|
NM_000051.4(ATM):c.5052T>G (p.Ser1684=)
|
|
|
NM_000051.4(ATM):c.5053A>C (p.Thr1685Pro)
|
rs879254205
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
NM_000051.4(ATM):c.5058A>C (p.Ile1686=)
|
|
|
NM_000051.4(ATM):c.5059G>T (p.Ala1687Ser)
|
rs1555104597
|
|
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
|
|
|
NM_000051.4(ATM):c.5061T>G (p.Ala1687=)
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5063T>A (p.Ile1688Lys)
|
|
|
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg)
|
rs199836342
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5072G>C (p.Ser1691Thr)
|
rs1064795911
|
|
NM_000051.4(ATM):c.5073T>G (p.Ser1691Arg)
|
|
|
NM_000051.4(ATM):c.5077G>C (p.Asp1693His)
|
rs1591702362
|
|
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val)
|
rs1591702387
|
|
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly)
|
rs587782551
|
|
NM_000051.4(ATM):c.5082A>T (p.Ala1694=)
|
|
|
NM_000051.4(ATM):c.5084C>A (p.Ser1695Tyr)
|
|
|
NM_000051.4(ATM):c.5086T>G (p.Tyr1696Asp)
|
rs1591702471
|
|
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
NM_000051.4(ATM):c.508G>T (p.Val170Leu)
|
rs786202781
|
|
NM_000051.4(ATM):c.5093dup (p.Ala1699fs)
|
|
|
NM_000051.4(ATM):c.5096C>G (p.Ala1699Gly)
|
|
|
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)
|
rs992234584
|
|
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe)
|
rs2135890776
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
NM_000051.4(ATM):c.50A>G (p.His17Arg)
|
rs1242444722
|
|
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
|
|
|
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)
|
rs746220021
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
NM_000051.4(ATM):c.5106A>G (p.Leu1702=)
|
rs2083331055
|
|
NM_000051.4(ATM):c.5106A>T (p.Leu1702Phe)
|
|
|
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu)
|
rs1591702635
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
NM_000051.4(ATM):c.510G>T (p.Val170=)
|
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly)
|
rs2083331490
|
|
NM_000051.4(ATM):c.5111A>T (p.Glu1704Val)
|
|
|
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)
|
rs2083331705
|
|
NM_000051.4(ATM):c.5115T>C (p.Asp1705=)
|
rs876658685
|
|
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu)
|
rs1291151519
|
|
NM_000051.4(ATM):c.5118A>G (p.Lys1706=)
|
rs3218672
|
|
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)
|
rs1591702700
|
|
NM_000051.4(ATM):c.5121A>G (p.Glu1707=)
|
rs2135891426
|
|
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe)
|
rs1555104730
|
|
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg)
|
rs587780627
|
|
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys)
|
rs1060501616
|
|
NM_000051.4(ATM):c.5130G>T (p.Trp1710Cys)
|
rs780816003
|
|
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)
|
rs1291016764
|
|
NM_000051.4(ATM):c.5132_5139delinsAACCT (p.Thr1711_Ile1713delinsLysPro)
|
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg)
|
rs1591702873
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5147C>T (p.Thr1716Ile)
|
|
|
NM_000051.4(ATM):c.514T>C (p.Phe172Leu)
|
rs786201608
|
|
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter)
|
rs1591702911
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
NM_000051.4(ATM):c.5156A>T (p.Asn1719Ile)
|
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys)
|
rs1565474287
|
|
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile)
|
rs786203910
|
|
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)
|
rs915337829
|
|
NM_000051.4(ATM):c.516C>T (p.Phe172=)
|
rs1591499730
|
|
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
|
|
|
NM_000051.4(ATM):c.5175T>C (p.Asp1725=)
|
rs1555104803
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
NM_000051.4(ATM):c.5177+2T>C
|
|
|
NM_000051.4(ATM):c.5177+4A>C
|
rs2083338902
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-1G>T
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-3C>G
|
rs876658558
|
|
NM_000051.4(ATM):c.5178-4del
|
rs747750958
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
NM_000051.4(ATM):c.5178-5T>C
|
rs1555105570
|
|
NM_000051.4(ATM):c.5178T>C (p.Cys1726=)
|
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
NM_000051.4(ATM):c.517A>C (p.Arg173=)
|
rs1591499740
|
|
NM_000051.4(ATM):c.5181C>T (p.Val1727=)
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5185G>A (p.Val1729Ile)
|
|
|
NM_000051.4(ATM):c.5185del (p.Val1729fs)
|
rs1555105610
|
|
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)
|
rs1179068103
|
|
NM_000051.4(ATM):c.5188C>A (p.Arg1730=)
|
rs764389018
|
|
NM_000051.4(ATM):c.5188C>G (p.Arg1730Gly)
|
rs764389018
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro)
|
rs1064793038
|
|
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr)
|
rs730881372
|
|
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)
|
rs1591708460
|
|
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
|
|
|
NM_000051.4(ATM):c.519G>T (p.Arg173Ser)
|
rs587781391
|
|
NM_000051.4(ATM):c.51T>C (p.His17=)
|
rs1591446045
|
|
NM_000051.4(ATM):c.5202T>A (p.Val1734=)
|
|
|
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
|
|
|
NM_000051.4(ATM):c.5205C>G (p.Thr1735=)
|
rs1060504283
|
|
NM_000051.4(ATM):c.5205C>T (p.Thr1735=)
|
|
|
NM_000051.4(ATM):c.5206T>G (p.Cys1736Gly)
|
|
|
NM_000051.4(ATM):c.5208T>C (p.Cys1736=)
|
|
|
NM_000051.4(ATM):c.520C>A (p.Leu174Ile)
|
rs1565369274
|
|
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp)
|
rs1591708558
|
|
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs)
|
rs1591708568
|
|
NM_000051.4(ATM):c.5211_5222del (p.Lys1738_Leu1741del)
|
rs1591708546
|
|
NM_000051.4(ATM):c.5213A>G (p.Lys1738Arg)
|
|
|
NM_000051.4(ATM):c.5216_5218delinsCCT (p.Asn1739_Ile1740delinsThrPhe)
|
|
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
|
NM_000051.4(ATM):c.5218A>T (p.Ile1740Phe)
|
rs1358200819
|
|
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser)
|
rs750896881
|
|
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)
|
rs1591708658
|
|
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)
|
|
|
NM_000051.4(ATM):c.5226C>T (p.Ala1742=)
|
rs750881004
|
|
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala)
|
rs758924620
|
|
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser)
|
rs758924620
|
|
NM_000051.4(ATM):c.5228C>G (p.Thr1743Arg)
|
rs587779844
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.522C>T (p.Leu174=)
|
rs780173724
|
|
NM_000051.4(ATM):c.5231dup (p.Thr1745fs)
|
|
|
NM_000051.4(ATM):c.5235T>A (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>C (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>G (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val)
|
rs879254135
|
|
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
|
|
|
NM_000051.4(ATM):c.5239C>T (p.His1747Tyr)
|
|
|
NM_000051.4(ATM):c.5240A>G (p.His1747Arg)
|
rs1555105695
|
|
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg)
|
rs876658175
|
|
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5249G>T (p.Trp1750Leu)
|
rs1060501669
|
|
NM_000051.4(ATM):c.524A>G (p.Tyr175Cys)
|
|
|
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys)
|
rs587779845
|
|
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr)
|
rs2083441818
|
|
NM_000051.4(ATM):c.5256T>A (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5256T>C (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5256T>G (p.Ile1752Met)
|
|
|
NM_000051.4(ATM):c.5258A>C (p.Tyr1753Ser)
|
rs777481236
|
|
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys)
|
rs777481236
|
|
NM_000051.4(ATM):c.5259T>C (p.Tyr1753=)
|
|
|
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
|
|
|
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter)
|
rs1363186839
|
|
NM_000051.4(ATM):c.5260A>G (p.Lys1754Glu)
|
|
|
NM_000051.4(ATM):c.5263A>G (p.Met1755Val)
|
rs876659150
|
|
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr)
|
rs1555105739
|
|
NM_000051.4(ATM):c.5265_5274del (p.Met1755fs)
|
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.5269A>G (p.Thr1757Ala)
|
rs1591708923
|
|
NM_000051.4(ATM):c.526C>T (p.Leu176=)
|
rs375798802
|
|
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile)
|
rs587781575
|
|
NM_000051.4(ATM):c.5272G>C (p.Asp1758His)
|
rs1591708951
|
|
NM_000051.4(ATM):c.527T>A (p.Leu176Gln)
|
rs1555066315
|
|
NM_000051.4(ATM):c.527T>C (p.Leu176Pro)
|
rs1555066315
|
|
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5283G>T (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys)
|
rs1555105780
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5290C>T (p.Leu1764=)
|
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg)
|
rs35556390
|
|
NM_000051.4(ATM):c.5294A>T (p.Gln1765Leu)
|
|
|
NM_000051.4(ATM):c.5296C>T (p.Pro1766Ser)
|
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
NM_000051.4(ATM):c.5298T>G (p.Pro1766=)
|
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
NM_000051.4(ATM):c.5304A>G (p.Arg1768=)
|
rs1591709095
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
|
|
|
NM_000051.4(ATM):c.5310A>C (p.Ser1770=)
|
|
|
NM_000051.4(ATM):c.5310A>T (p.Ser1770=)
|
|
|
NM_000051.4(ATM):c.5311A>G (p.Arg1771Gly)
|
rs1591709145
|
|
NM_000051.4(ATM):c.5312G>C (p.Arg1771Thr)
|
rs1416930012
|
|
NM_000051.4(ATM):c.5313A>G (p.Arg1771=)
|
rs1591709164
|
|
NM_000051.4(ATM):c.5314A>G (p.Lys1772Glu)
|
rs1591709181
|
|
NM_000051.4(ATM):c.5316A>G (p.Lys1772=)
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319+1G>A
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5319+3C>T
|
rs371640963
|
|
NM_000051.4(ATM):c.5319+4T>A
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319+4T>C
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
NM_000051.4(ATM):c.531dup (p.Pro178fs)
|
|
|
NM_000051.4(ATM):c.5320-3T>C
|
rs1346691984
|
|
NM_000051.4(ATM):c.5320-4C>A
|
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5320-6_5320-3del
|
rs864622386
|
|
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.532C>A (p.Pro178Thr)
|
|
|
NM_000051.4(ATM):c.532C>T (p.Pro178Ser)
|
rs786201807
|
|
NM_000051.4(ATM):c.5330T>C (p.Val1777Ala)
|
rs1555106328
|
|
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
|
|
|
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser)
|
rs1279041730
|
|
NM_000051.4(ATM):c.5336G>T (p.Arg1779Ile)
|
|
|
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser)
|
rs369351803
|
|
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)
|
rs1591499842
|
|
NM_000051.4(ATM):c.5340del (p.Phe1780fs)
|
|
|
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu)
|
rs1591712154
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
NM_000051.4(ATM):c.5347G>C (p.Glu1783Gln)
|
|
|
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
|
|
|
NM_000051.4(ATM):c.5349A>G (p.Glu1783=)
|
rs1555106353
|
|
NM_000051.4(ATM):c.534T>C (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.534T>G (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala)
|
rs587779848
|
|
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)
|
rs1555106375
|
|
NM_000051.4(ATM):c.5358T>C (p.Phe1786=)
|
rs876659725
|
|
NM_000051.4(ATM):c.5365del (p.Leu1789fs)
|
|
|
NM_000051.4(ATM):c.5368G>A (p.Asp1790Asn)
|
rs876658890
|
|
NM_000051.4(ATM):c.5368G>C (p.Asp1790His)
|
rs876658890
|
|
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val)
|
rs746945284
|
|
NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu)
|
rs1555106395
|
|
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)
|
rs2135928197
|
|
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val)
|
rs1555106405
|
|
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5376A>T (p.Ile1792=)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5379T>C (p.Asn1793=)
|
|
|
NM_000051.4(ATM):c.537A>C (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.537A>T (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
|
|
|
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val)
|
rs1591712398
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)
|
rs879254274
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.5398G>C (p.Glu1800Gln)
|
|
|
NM_000051.4(ATM):c.5399A>G (p.Glu1800Gly)
|
rs2083502112
|
|
NM_000051.4(ATM):c.539A>G (p.Gln180Arg)
|
rs730881334
|
|
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp)
|
rs2135928904
|
|
NM_000051.4(ATM):c.5400A>G (p.Glu1800=)
|
|
|
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr)
|
rs2083502328
|
|
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
NM_000051.4(ATM):c.5404C>T (p.His1802Tyr)
|
rs2083502587
|
|
NM_000051.4(ATM):c.5405A>G (p.His1802Arg)
|
rs878853521
|
|
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)
|
rs878853521
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5409C>T (p.Asp1803=)
|
rs1555106462
|
|
NM_000051.4(ATM):c.540del (p.Asp181fs)
|
rs1565369355
|
|
NM_000051.4(ATM):c.5416A>C (p.Ile1806Leu)
|
rs1565479163
|
|
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5419A>C (p.Lys1807Gln)
|
rs1591712583
|
|
NM_000051.4(ATM):c.541G>A (p.Asp181Asn)
|
rs2079698928
|
|
NM_000051.4(ATM):c.5423C>T (p.Thr1808Ile)
|
|
|
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val)
|
rs2135929542
|
|
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro)
|
rs2083504168
|
|
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala)
|
rs876659748
|
|
NM_000051.4(ATM):c.542A>G (p.Asp181Gly)
|
|
|
NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
|
|
|
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser)
|
rs149569091
|
|
NM_000051.4(ATM):c.5434G>C (p.Ala1812Pro)
|
|
|
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
|
|
|
NM_000051.4(ATM):c.5436T>G (p.Ala1812=)
|
rs1555106502
|
|
NM_000051.4(ATM):c.5440T>C (p.Leu1814=)
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
NM_000051.4(ATM):c.5442G>A (p.Leu1814=)
|
rs2083505400
|
|
NM_000051.4(ATM):c.5443G>T (p.Asp1815Tyr)
|
|
|
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs)
|
rs1591712726
|
|
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr)
|
rs2135930154
|
|
NM_000051.4(ATM):c.5448T>C (p.Ser1816=)
|
rs766455425
|
|
NM_000051.4(ATM):c.5450dup (p.Gly1818fs)
|
|
|
NM_000051.4(ATM):c.5453G>A (p.Gly1818Asp)
|
|
|
NM_000051.4(ATM):c.5454C>A (p.Gly1818=)
|
|
|
NM_000051.4(ATM):c.5455A>G (p.Thr1819Ala)
|
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
NM_000051.4(ATM):c.5457A>G (p.Thr1819=)
|
rs1555106535
|
|
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)
|
rs983664978
|
|
NM_000051.4(ATM):c.5460A>G (p.Lys1820=)
|
rs1591712836
|
|
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5466A>C (p.Glu1822Asp)
|
|
|
NM_000051.4(ATM):c.5466A>G (p.Glu1822=)
|
|
|
NM_000051.4(ATM):c.5467A>G (p.Ile1823Val)
|
|
|
NM_000051.4(ATM):c.546T>C (p.Val182=)
|
|
|
NM_000051.4(ATM):c.546dup (p.His183fs)
|
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro)
|
rs587782655
|
|
NM_000051.4(ATM):c.5475dup (p.Leu1826fs)
|
|
|
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile)
|
rs1555106563
|
|
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val)
|
rs1555106563
|
|
NM_000051.4(ATM):c.547C>G (p.His183Asp)
|
rs1409889384
|
|
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln)
|
rs2083509111
|
|
NM_000051.4(ATM):c.5484G>T (p.Lys1828Asn)
|
|
|
NM_000051.4(ATM):c.548A>C (p.His183Pro)
|
rs786204219
|
|
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile)
|
rs779720793
|
|
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr)
|
rs1555106575
|
|
NM_000051.4(ATM):c.5493T>G (p.Cys1831Trp)
|
|
|
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys)
|
rs1591713057
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5496+5G>T
|
rs786202708
|
|
NM_000051.4(ATM):c.5496+645T>G
|
|
|
NM_000051.4(ATM):c.5496A>G (p.Glu1832=)
|
rs1591713080
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-5T>G
|
|
|
NM_000051.4(ATM):c.549T>C (p.His183=)
|
rs1591499967
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
NM_000051.4(ATM):c.54T>C (p.Asp18=)
|
rs786203926
|
|
NM_000051.4(ATM):c.5503del (p.Thr1835fs)
|
rs1591717467
|
|
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
|
|
|
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5506G>C (p.Asp1836His)
|
rs2135942560
|
|
NM_000051.4(ATM):c.5508C>T (p.Asp1836=)
|
rs2135942603
|
|
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)
|
rs876660472
|
|
NM_000051.4(ATM):c.550A>C (p.Arg184=)
|
|
|
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)
|
rs1555066377
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5512T>C (p.Cys1838Arg)
|
rs587781390
|
|
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly)
|
rs587781390
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)
|
|
|
NM_000051.4(ATM):c.5521G>C (p.Val1841Leu)
|
|
|
NM_000051.4(ATM):c.5523A>C (p.Val1841=)
|
rs1060504268
|
|
NM_000051.4(ATM):c.5524dup (p.Leu1842fs)
|
|
|
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)
|
rs1060501607
|
|
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg)
|
rs764522350
|
|
NM_000051.4(ATM):c.5528C>T (p.Pro1843Leu)
|
|
|
NM_000051.4(ATM):c.5529A>G (p.Pro1843=)
|
rs750037588
|
|
NM_000051.4(ATM):c.552A>G (p.Arg184=)
|
rs2135223587
|
|
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys)
|
rs876658907
|
|
NM_000051.4(ATM):c.5533T>A (p.Leu1845Met)
|
rs1555107311
|
|
NM_000051.4(ATM):c.5533T>G (p.Leu1845Val)
|
|
|
NM_000051.4(ATM):c.5535G>A (p.Leu1845=)
|
|
|
NM_000051.4(ATM):c.5538dup (p.His1847fs)
|
rs2135943275
|
|
NM_000051.4(ATM):c.5539C>G (p.His1847Asp)
|
rs1591717732
|
|
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
|
|
|
NM_000051.4(ATM):c.5541T>C (p.His1847=)
|
rs1555107326
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val)
|
rs200842502
|
|
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)
|
rs200842502
|
|
NM_000051.4(ATM):c.5553C>A (p.Leu1851=)
|
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554del (p.Gln1852fs)
|
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
NM_000051.4(ATM):c.555T>C (p.Val185=)
|
|
|
NM_000051.4(ATM):c.5560A>G (p.Thr1854Ala)
|
|
|
NM_000051.4(ATM):c.5562A>T (p.Thr1854=)
|
|
|
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)
|
rs1565481878
|
|
NM_000051.4(ATM):c.5565T>G (p.Asn1855Lys)
|
rs1565481888
|
|
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln)
|
rs1465041573
|
|
NM_000051.4(ATM):c.556T>G (p.Leu186Val)
|
rs2079700064
|
|
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5571A>T (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys)
|
rs1060501568
|
|
NM_000051.4(ATM):c.5576G>T (p.Arg1859Ile)
|
rs1060501568
|
|
NM_000051.4(ATM):c.557dup (p.Leu186fs)
|
rs1591500005
|
|
NM_000051.4(ATM):c.5581C>T (p.Leu1861=)
|
|
|
NM_000051.4(ATM):c.5582T>C (p.Leu1861Pro)
|
rs1555107411
|
|
NM_000051.4(ATM):c.5583G>C (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5583G>T (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val)
|
rs149362482
|
|
NM_000051.4(ATM):c.5585T>A (p.Leu1862His)
|
rs1555107424
|
|
NM_000051.4(ATM):c.5586T>G (p.Leu1862=)
|
rs1555107431
|
|
NM_000051.4(ATM):c.5588C>A (p.Ser1863Tyr)
|
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
NM_000051.4(ATM):c.558A>C (p.Leu186Phe)
|
rs991667156
|
|
NM_000051.4(ATM):c.558A>G (p.Leu186=)
|
rs991667156
|
|
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg)
|
rs779156037
|
|
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile)
|
rs779156037
|
|
NM_000051.4(ATM):c.5592A>C (p.Thr1864=)
|
|
|
NM_000051.4(ATM):c.5593C>A (p.His1865Asn)
|
rs567908537
|
|
NM_000051.4(ATM):c.5594A>G (p.His1865Arg)
|
rs876659963
|
|
NM_000051.4(ATM):c.5594_5595del (p.His1865fs)
|
rs1555107450
|
|
NM_000051.4(ATM):c.5595T>A (p.His1865Gln)
|
rs772261410
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5596G>T (p.Val1866Phe)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5598T>G (p.Val1866=)
|
|
|
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys)
|
rs2135944782
|
|
NM_000051.4(ATM):c.559G>A (p.Val187Met)
|
rs1060501614
|
|
NM_000051.4(ATM):c.55A>G (p.Arg19Gly)
|
rs1565344118
|
|
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)
|
rs1555107457
|
|
NM_000051.4(ATM):c.5605T>A (p.Phe1869Ile)
|
|
|
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu)
|
rs975721205
|
|
NM_000051.4(ATM):c.5605T>G (p.Phe1869Val)
|
rs975721205
|
|
NM_000051.4(ATM):c.5607T>G (p.Phe1869Leu)
|
|
|
NM_000051.4(ATM):c.560T>C (p.Val187Ala)
|
rs1591500044
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
NM_000051.4(ATM):c.5613C>G (p.Thr1871=)
|
rs2083601650
|
|
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)
|
rs761257154
|
|
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
|
|
|
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe)
|
rs587782239
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
NM_000051.4(ATM):c.5620C>T (p.Leu1874Phe)
|
|
|
NM_000051.4(ATM):c.5621T>C (p.Leu1874Pro)
|
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr)
|
rs1060501567
|
|
NM_000051.4(ATM):c.5627A>G (p.His1876Arg)
|
rs967371351
|
|
NM_000051.4(ATM):c.5628C>T (p.His1876=)
|
rs1237700879
|
|
NM_000051.4(ATM):c.562G>T (p.Ala188Ser)
|
rs1555066392
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg)
|
rs786203086
|
|
NM_000051.4(ATM):c.5637A>C (p.Gln1879His)
|
rs587781993
|
|
NM_000051.4(ATM):c.5637A>G (p.Gln1879=)
|
rs587781993
|
|
NM_000051.4(ATM):c.563C>A (p.Ala188Asp)
|
rs1555066393
|
|
NM_000051.4(ATM):c.563C>G (p.Ala188Gly)
|
rs1555066393
|
|
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro)
|
rs587782236
|
|
NM_000051.4(ATM):c.564T>G (p.Ala188=)
|
|
|
NM_000051.4(ATM):c.564del (p.Arg189fs)
|
rs876658754
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)
|
rs1591718571
|
|
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile)
|
rs2083606342
|
|
NM_000051.4(ATM):c.5655C>T (p.Thr1885=)
|
rs1555107577
|
|
NM_000051.4(ATM):c.5658T>A (p.Pro1886=)
|
rs940182945
|
|
NM_000051.4(ATM):c.565A>C (p.Arg189=)
|
rs2079701086
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
NM_000051.4(ATM):c.5660C>A (p.Ala1887Glu)
|
|
|
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val)
|
rs1297909613
|
|
NM_000051.4(ATM):c.5661A>T (p.Ala1887=)
|
rs876658939
|
|
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met)
|
rs746106249
|
|
NM_000051.4(ATM):c.566G>A (p.Arg189Lys)
|
rs79075295
|
|
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu)
|
rs2135946592
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5675-27C>A
|
|
|
NM_000051.4(ATM):c.5675-3C>G
|
rs876658545
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5675-5G>A
|
rs1591731701
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
|
|
|
NM_000051.4(ATM):c.5679_5691del (p.Glu1894fs)
|
|
|
NM_000051.4(ATM):c.567A>G (p.Arg189=)
|
rs1555066398
|
|
NM_000051.4(ATM):c.5680G>C (p.Glu1894Gln)
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
NM_000051.4(ATM):c.5687T>G (p.Phe1896Cys)
|
|
|
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys)
|
rs587782516
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
NM_000051.4(ATM):c.5690dup (p.Arg1898fs)
|
|
|
NM_000051.4(ATM):c.5692C>A (p.Arg1898=)
|
|
|
NM_000051.4(ATM):c.5693G>T (p.Arg1898Leu)
|
rs370680798
|
|
NM_000051.4(ATM):c.5694A>T (p.Arg1898=)
|
|
|
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser)
|
rs373213507
|
|
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)
|
rs373213507
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
NM_000051.4(ATM):c.5697C>T (p.Cys1899=)
|
rs753839301
|
|
NM_000051.4(ATM):c.5698T>A (p.Cys1900Ser)
|
rs2083817433
|
|
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser)
|
rs1591731972
|
|
NM_000051.4(ATM):c.56G>C (p.Arg19Thr)
|
rs1064793029
|
|
NM_000051.4(ATM):c.5703G>A (p.Leu1901=)
|
rs756979112
|
|
NM_000051.4(ATM):c.5703G>C (p.Leu1901Phe)
|
rs756979112
|
|
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly)
|
rs1565486057
|
|
NM_000051.4(ATM):c.5708A>C (p.Lys1903Thr)
|
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg)
|
rs1591732095
|
|
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)
|
rs1555109102
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr)
|
rs542378165
|
|
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg)
|
rs542378165
|
|
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile)
|
rs1555109119
|
|
NM_000051.4(ATM):c.5732C>G (p.Ala1911Gly)
|
|
|
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5736T>C (p.Val1912=)
|
rs1060504302
|
|
NM_000051.4(ATM):c.5737G>A (p.Val1913Met)
|
rs876659487
|
|
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly)
|
rs1060501688
|
|
NM_000051.4(ATM):c.5739G>A (p.Val1913=)
|
|
|
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
|
|
|
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle)
|
rs876659524
|
|
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly)
|
rs2083822627
|
|
NM_000051.4(ATM):c.574C>A (p.His192Asn)
|
rs587780629
|
|
NM_000051.4(ATM):c.574C>G (p.His192Asp)
|
rs587780629
|
|
NM_000051.4(ATM):c.574C>T (p.His192Tyr)
|
rs587780629
|
|
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys)
|
rs377289524
|
|
NM_000051.4(ATM):c.5755C>A (p.Gln1919Lys)
|
|
|
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro)
|
rs1565486302
|
|
NM_000051.4(ATM):c.575A>G (p.His192Arg)
|
rs1555066411
|
|
NM_000051.4(ATM):c.5760G>A (p.Lys1920=)
|
|
|
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly)
|
rs1060501527
|
|
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
|
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+5T>G
|
|
|
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
|
|
|
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)
|
rs876659832
|
|
NM_000051.4(ATM):c.577G>C (p.Ala193Pro)
|
rs876659832
|
|
NM_000051.4(ATM):c.577G>T (p.Ala193Ser)
|
|
|
NM_000051.4(ATM):c.578C>G (p.Ala193Gly)
|
rs1064793928
|
|
NM_000051.4(ATM):c.57A>G (p.Arg19=)
|
|
|
NM_000051.4(ATM):c.580G>C (p.Val194Leu)
|
rs1591500206
|
|
NM_000051.4(ATM):c.583del (p.Thr195fs)
|
rs1591500220
|
|
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)
|
rs1196611507
|
|
NM_000051.4(ATM):c.585C>T (p.Thr195=)
|
|
|
NM_000051.4(ATM):c.589G>A (p.Gly197Arg)
|
rs764080545
|
|
NM_000051.4(ATM):c.58G>A (p.Ala20Thr)
|
rs1555053946
|
|
NM_000051.4(ATM):c.590G>T (p.Gly197Val)
|
rs753806542
|
|
NM_000051.4(ATM):c.591A>G (p.Gly197=)
|
rs587780630
|
|
NM_000051.4(ATM):c.592T>G (p.Cys198Gly)
|
|
|
NM_000051.4(ATM):c.594C>G (p.Cys198Trp)
|
rs1591500282
|
|
NM_000051.4(ATM):c.595T>C (p.Cys199Arg)
|
rs1591500295
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
NM_000051.4(ATM):c.597T>G (p.Cys199Trp)
|
rs1565369633
|
|
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)
|
rs2078809726
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.603G>C (p.Gln201His)
|
|
|
NM_000051.4(ATM):c.605C>T (p.Thr202Ile)
|
rs1555066438
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
NM_000051.4(ATM):c.60T>C (p.Ala20=)
|
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
NM_000051.4(ATM):c.612A>G (p.Gly204=)
|
rs878853527
|
|
NM_000051.4(ATM):c.615A>G (p.Leu205=)
|
rs1555066455
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)
|
rs1565344141
|
|
NM_000051.4(ATM):c.620C>G (p.Ser207Cys)
|
rs876660296
|
|
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)
|
rs1292617227
|
|
NM_000051.4(ATM):c.630G>A (p.Leu210=)
|
rs1565369739
|
|
NM_000051.4(ATM):c.631G>A (p.Asp211Asn)
|
rs1555066481
|
|
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)
|
rs1060501634
|
|
NM_000051.4(ATM):c.634T>C (p.Phe212Leu)
|
rs876659912
|
|
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
|
|
|
NM_000051.4(ATM):c.63A>G (p.Thr21=)
|
rs199853729
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.642C>T (p.Ser214=)
|
rs1555066521
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
NM_000051.4(ATM):c.643A>G (p.Lys215Glu)
|
rs2079708238
|
|
NM_000051.4(ATM):c.644A>C (p.Lys215Thr)
|
rs755074633
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
|
|
|
NM_000051.4(ATM):c.646G>A (p.Ala216Thr)
|
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
NM_000051.4(ATM):c.648T>A (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>C (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>G (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.649A>C (p.Ile217Leu)
|
rs547045780
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
NM_000051.4(ATM):c.653A>G (p.Gln218Arg)
|
rs1198686265
|
|
NM_000051.4(ATM):c.654G>C (p.Gln218His)
|
rs1555066555
|
|
NM_000051.4(ATM):c.654G>T (p.Gln218His)
|
rs1555066555
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
|
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.662+243T>G
|
|
|
NM_000051.4(ATM):c.662+4A>G
|
rs1555066570
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.663-3C>T
|
rs2079752506
|
|
NM_000051.4(ATM):c.663-3_663-2del
|
|
|
NM_000051.4(ATM):c.663-5C>A
|
rs1591503207
|
|
NM_000051.4(ATM):c.663-5C>T
|
rs1591503207
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.666A>G (p.Gln222=)
|
|
|
NM_000051.4(ATM):c.668A>C (p.Glu223Ala)
|
|
|
NM_000051.4(ATM):c.66A>G (p.Glu22=)
|
rs1185359350
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
NM_000051.4(ATM):c.675C>G (p.Ser225Arg)
|
rs1555066940
|
|
NM_000051.4(ATM):c.675C>T (p.Ser225=)
|
rs1555066940
|
|
NM_000051.4(ATM):c.67C>A (p.Arg23=)
|
rs746235533
|
|
NM_000051.4(ATM):c.67C>G (p.Arg23Gly)
|
rs746235533
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
NM_000051.4(ATM):c.684T>C (p.Gly228=)
|
rs1591503368
|
|
NM_000051.4(ATM):c.684T>G (p.Gly228=)
|
|
|
NM_000051.4(ATM):c.686T>C (p.Leu229Pro)
|
rs1591503381
|
|
NM_000051.4(ATM):c.687A>G (p.Leu229=)
|
rs3218706
|
|
NM_000051.4(ATM):c.687A>T (p.Leu229=)
|
|
|
NM_000051.4(ATM):c.689A>G (p.Asn230Ser)
|
rs876659494
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.691C>G (p.His231Asp)
|
rs1460757633
|
|
NM_000051.4(ATM):c.692A>T (p.His231Leu)
|
rs587782229
|
|
NM_000051.4(ATM):c.693T>C (p.His231=)
|
rs1555066993
|
|
NM_000051.4(ATM):c.695T>C (p.Ile232Thr)
|
rs786203502
|
|
NM_000051.4(ATM):c.695T>G (p.Ile232Ser)
|
rs786203502
|
|
NM_000051.4(ATM):c.695_699del (p.Ile232fs)
|
|
|
NM_000051.4(ATM):c.696C>G (p.Ile232Met)
|
rs1591503507
|
|
NM_000051.4(ATM):c.696C>T (p.Ile232=)
|
rs1591503507
|
|
NM_000051.4(ATM):c.699A>G (p.Leu233=)
|
rs1555067006
|
|
NM_000051.4(ATM):c.6T>A (p.Ser2Arg)
|
rs748158168
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
NM_000051.4(ATM):c.705T>C (p.Ala235=)
|
rs756175724
|
|
NM_000051.4(ATM):c.706C>G (p.Leu236Val)
|
rs886042866
|
|
NM_000051.4(ATM):c.706C>T (p.Leu236Phe)
|
rs886042866
|
|
NM_000051.4(ATM):c.707T>A (p.Leu236His)
|
rs876659813
|
|
NM_000051.4(ATM):c.707T>C (p.Leu236Pro)
|
rs876659813
|
|
NM_000051.4(ATM):c.708T>C (p.Leu236=)
|
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
NM_000051.4(ATM):c.70A>G (p.Lys24Glu)
|
rs1469464426
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
NM_000051.4(ATM):c.716T>G (p.Phe239Cys)
|
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
NM_000051.4(ATM):c.718C>G (p.Leu240Val)
|
|
|
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)
|
rs876658753
|
|
NM_000051.4(ATM):c.71A>T (p.Lys24Met)
|
rs1060501710
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
NM_000051.4(ATM):c.72+1del
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
NM_000051.4(ATM):c.72+3A>C
|
rs2135007098
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
NM_000051.4(ATM):c.726T>C (p.Thr242=)
|
rs1555067070
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
|
rs2079760023
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.73-3C>G
|
rs1555054039
|
|
NM_000051.4(ATM):c.73-3C>T
|
rs1555054039
|
|
NM_000051.4(ATM):c.73-3del
|
rs1565344403
|
|
NM_000051.4(ATM):c.730G>T (p.Ala244Ser)
|
|
|
NM_000051.4(ATM):c.732T>C (p.Ala244=)
|
|
|
NM_000051.4(ATM):c.733G>A (p.Val245Ile)
|
rs1555067081
|
|
NM_000051.4(ATM):c.737A>C (p.Asn246Thr)
|
rs781023264
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
NM_000051.4(ATM):c.737_742del (p.Asn246_Phe247del)
|
rs1555067088
|
|
NM_000051.4(ATM):c.738C>T (p.Asn246=)
|
|
|
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
|
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.744A>C (p.Arg248=)
|
rs1591503905
|
|
NM_000051.4(ATM):c.745A>G (p.Ile249Val)
|
rs1060501636
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.750A>G (p.Arg250=)
|
rs1555067112
|
|
NM_000051.4(ATM):c.751G>A (p.Val251Met)
|
rs1057519145
|
|
NM_000051.4(ATM):c.752T>G (p.Val251Gly)
|
rs1591503977
|
|
NM_000051.4(ATM):c.753del (p.Cys252fs)
|
rs2135239839
|
|
NM_000051.4(ATM):c.756T>C (p.Cys252=)
|
rs2079762952
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.758A>G (p.Glu253Gly)
|
rs2079763142
|
|
NM_000051.4(ATM):c.759A>G (p.Glu253=)
|
rs2135239992
|
|
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
|
|
|
NM_000051.4(ATM):c.763G>C (p.Gly255Arg)
|
rs770911662
|
|
NM_000051.4(ATM):c.764G>A (p.Gly255Glu)
|
rs2135240183
|
|
NM_000051.4(ATM):c.764_766del (p.Gly255del)
|
rs766716803
|
|
NM_000051.4(ATM):c.765A>C (p.Gly255=)
|
rs1591504056
|
|
NM_000051.4(ATM):c.767A>G (p.Asp256Gly)
|
rs907941927
|
|
NM_000051.4(ATM):c.767A>T (p.Asp256Val)
|
rs907941927
|
|
NM_000051.4(ATM):c.768T>C (p.Asp256=)
|
|
|
NM_000051.4(ATM):c.771A>G (p.Glu257=)
|
rs786201068
|
|
NM_000051.4(ATM):c.778C>T (p.Pro260Ser)
|
|
|
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)
|
rs961262202
|
|
NM_000051.4(ATM):c.780C>T (p.Pro260=)
|
rs1591504144
|
|
NM_000051.4(ATM):c.781A>T (p.Thr261Ser)
|
rs786203410
|
|
NM_000051.4(ATM):c.785T>C (p.Leu262Ser)
|
rs864622163
|
|
NM_000051.4(ATM):c.785T>G (p.Leu262Trp)
|
rs864622163
|
|
NM_000051.4(ATM):c.790T>A (p.Tyr264Asn)
|
rs1591504199
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.793A>G (p.Ile265Val)
|
rs587781973
|
|
NM_000051.4(ATM):c.795T>A (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.795T>C (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
NM_000051.4(ATM):c.79G>C (p.Val27Leu)
|
rs754770960
|
|
NM_000051.4(ATM):c.79G>T (p.Val27Phe)
|
rs754770960
|
|
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.805C>T (p.His269Tyr)
|
rs1591504278
|
|
NM_000051.4(ATM):c.806A>G (p.His269Arg)
|
rs1565371740
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)
|
rs1555067189
|
|
NM_000051.4(ATM):c.815A>T (p.Asn272Ile)
|
rs1555067189
|
|
NM_000051.4(ATM):c.816_829dup (p.Glu277delinsValIleLeuTer)
|
|
|
NM_000051.4(ATM):c.820T>G (p.Ser274Ala)
|
rs2079767927
|
|
NM_000051.4(ATM):c.821C>T (p.Ser274Phe)
|
rs1591504377
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.825A>T (p.Leu275Phe)
|
rs2135242080
|
|
NM_000051.4(ATM):c.826A>G (p.Lys276Glu)
|
rs587782902
|
|
NM_000051.4(ATM):c.828del (p.Glu277fs)
|
|
|
NM_000051.4(ATM):c.834C>A (p.Val278=)
|
|
|
NM_000051.4(ATM):c.834C>G (p.Val278=)
|
rs2079769316
|
|
NM_000051.4(ATM):c.835A>G (p.Ile279Val)
|
rs1555067210
|
|
NM_000051.4(ATM):c.835A>T (p.Ile279Phe)
|
|
|
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
|
|
|
NM_000051.4(ATM):c.838A>G (p.Ile280Val)
|
rs764048041
|
|
NM_000051.4(ATM):c.840T>G (p.Ile280Met)
|
rs1591504482
|
|
NM_000051.4(ATM):c.844T>C (p.Leu282=)
|
rs1565371944
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.84G>A (p.Glu28=)
|
rs1591446775
|
|
NM_000051.4(ATM):c.84G>T (p.Glu28Asp)
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.852A>T (p.Gln284His)
|
rs140367473
|
|
NM_000051.4(ATM):c.854T>C (p.Leu285Pro)
|
rs864622605
|
|
NM_000051.4(ATM):c.854T>G (p.Leu285Arg)
|
rs864622605
|
|
NM_000051.4(ATM):c.855G>A (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.855G>C (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
NM_000051.4(ATM):c.857A>G (p.Gln286Arg)
|
rs1591504622
|
|
NM_000051.4(ATM):c.859A>G (p.Ile287Val)
|
|
|
NM_000051.4(ATM):c.867C>T (p.Ile289=)
|
|
|
NM_000051.4(ATM):c.86A>G (p.Lys29Arg)
|
|
|
NM_000051.4(ATM):c.871del (p.His291fs)
|
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
NM_000051.4(ATM):c.874C>A (p.Pro292Thr)
|
|
|
NM_000051.4(ATM):c.875C>G (p.Pro292Arg)
|
rs747727055
|
|
NM_000051.4(ATM):c.876G>T (p.Pro292=)
|
rs755860432
|
|
NM_000051.4(ATM):c.877A>G (p.Lys293Glu)
|
rs1057516442
|
|
NM_000051.4(ATM):c.87A>G (p.Lys29=)
|
rs1591446799
|
|
NM_000051.4(ATM):c.886A>C (p.Lys296Gln)
|
|
|
NM_000051.4(ATM):c.886A>G (p.Lys296Glu)
|
rs1591504793
|
|
NM_000051.4(ATM):c.887A>G (p.Lys296Arg)
|
rs1064795297
|
|
NM_000051.4(ATM):c.889A>G (p.Thr297Ala)
|
rs1340517984
|
|
NM_000051.4(ATM):c.889del (p.Thr297fs)
|
|
|
NM_000051.4(ATM):c.890C>T (p.Thr297Ile)
|
rs969263740
|
|
NM_000051.4(ATM):c.891C>G (p.Thr297=)
|
rs575285986
|
|
NM_000051.4(ATM):c.894A>G (p.Gln298=)
|
|
|
NM_000051.4(ATM):c.895G>A (p.Glu299Lys)
|
|
|
NM_000051.4(ATM):c.896A>G (p.Glu299Gly)
|
rs587779876
|
|
NM_000051.4(ATM):c.89T>A (p.Phe30Tyr)
|
rs876658520
|
|
NM_000051.4(ATM):c.8T>C (p.Leu3Pro)
|
rs1555053861
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.901+10A>T
|
rs2135244818
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.901+2T>C
|
rs1218815157
|
|
NM_000051.4(ATM):c.901+3A>T
|
rs786203070
|
|
NM_000051.4(ATM):c.901+4T>G
|
rs1591504958
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)
|
rs1064797160
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.903T>C (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.903T>G (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.905C>G (p.Ala302Gly)
|
rs778442248
|
|
NM_000051.4(ATM):c.905C>T (p.Ala302Val)
|
rs778442248
|
|
NM_000051.4(ATM):c.906T>C (p.Ala302=)
|
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
NM_000051.4(ATM):c.90T>C (p.Phe30=)
|
|
|
NM_000051.4(ATM):c.911A>G (p.Glu304Gly)
|
|
|
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
|
|
|
NM_000051.4(ATM):c.914C>T (p.Ser305Leu)
|
rs1591510485
|
|
NM_000051.4(ATM):c.916A>C (p.Thr306Pro)
|
|
|
NM_000051.4(ATM):c.916A>G (p.Thr306Ala)
|
rs1555068304
|
|
NM_000051.4(ATM):c.917C>T (p.Thr306Ile)
|
rs1565374923
|
|
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
|
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|
NM_000051.4(ATM):c.925A>C (p.Arg309=)
|
rs876659841
|
|
NM_000051.4(ATM):c.925A>G (p.Arg309Gly)
|
rs876659841
|
|
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)
|
rs935834518
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
NM_000051.4(ATM):c.932T>C (p.Ile311Thr)
|
rs1462079674
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
NM_000051.4(ATM):c.936A>G (p.Leu312=)
|
rs587782257
|
|
NM_000051.4(ATM):c.938A>G (p.Tyr313Cys)
|
rs2135265521
|
|
NM_000051.4(ATM):c.93G>A (p.Lys31=)
|
rs863224583
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)
|
rs886047610
|
|
NM_000051.4(ATM):c.945A>G (p.Leu315=)
|
|
|
NM_000051.4(ATM):c.946T>G (p.Tyr316Asp)
|
|
|
NM_000051.4(ATM):c.948T>C (p.Tyr316=)
|
rs775091961
|
|
NM_000051.4(ATM):c.949G>A (p.Asp317Asn)
|
|
|
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr)
|
rs1445292591
|
|
NM_000051.4(ATM):c.94C>A (p.Arg32Ser)
|
rs148061139
|
|
NM_000051.4(ATM):c.94C>G (p.Arg32Gly)
|
|
|
NM_000051.4(ATM):c.951T>G (p.Asp317Glu)
|
rs876659199
|
|
NM_000051.4(ATM):c.952C>G (p.Leu318Val)
|
|
|
NM_000051.4(ATM):c.954G>A (p.Leu318=)
|
rs1591510739
|
|
NM_000051.4(ATM):c.957A>G (p.Leu319=)
|
rs1060501542
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
NM_000051.4(ATM):c.95del (p.Arg32fs)
|
|
|
NM_000051.4(ATM):c.961A>G (p.Asn321Asp)
|
rs1591510765
|
|
NM_000051.4(ATM):c.962A>G (p.Asn321Ser)
|
rs1555068398
|
|
NM_000051.4(ATM):c.964G>A (p.Glu322Lys)
|
|
|
NM_000051.4(ATM):c.964_968del (p.Glu322fs)
|
rs1555068404
|
|
NM_000051.4(ATM):c.966G>A (p.Glu322=)
|
|
|
NM_000051.4(ATM):c.966G>C (p.Glu322Asp)
|
|
|
NM_000051.4(ATM):c.96C>T (p.Arg32=)
|
rs1305090923
|
|
NM_000051.4(ATM):c.970A>C (p.Ser324Arg)
|
|
|
NM_000051.4(ATM):c.970dup (p.Ser324fs)
|
|
|
NM_000051.4(ATM):c.972_979del (p.Ser324fs)
|
rs2135266573
|
|
NM_000051.4(ATM):c.974A>G (p.His325Arg)
|
rs1565375244
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000051.4(ATM):c.978A>G (p.Ile326Met)
|
rs1555068424
|
|
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
|
|
|
NM_000051.4(ATM):c.984_986del (p.Ser328del)
|
rs876659593
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
NM_000051.4(ATM):c.986G>C (p.Arg329Thr)
|
rs776938735
|
|
NM_000051.4(ATM):c.986G>T (p.Arg329Ile)
|
|
|
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
|
rs762179829
|
|
NM_000051.4(ATM):c.990A>G (p.Gly330=)
|
rs1555068447
|
|
NM_000051.4(ATM):c.991A>G (p.Lys331Glu)
|
rs1555068451
|
|
NM_000051.4(ATM):c.992A>G (p.Lys331Arg)
|
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
NM_000051.4(ATM):c.992dup (p.Tyr332fs)
|
|
|
NM_000051.4(ATM):c.993G>T (p.Lys331Asn)
|
rs786202048
|
|
NM_000051.4(ATM):c.994T>G (p.Tyr332Asp)
|
|
|
NM_000051.4(ATM):c.995A>C (p.Tyr332Ser)
|
|
|
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys)
|
rs1060501664
|
|
Single allele
|
|
|