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.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
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.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
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.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
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.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
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.131A>G (p.Asp44Gly)
|
rs150143957
|
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.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.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
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.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_000051.3(ATM):c.-218T>A
|
rs886047609
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.1899-123A>G
|
rs55744559
|
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.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
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.4792C>A (p.Leu1598Ile)
|
rs375190373
|
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.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
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_000051.3(ATM):c.-274G>A
|
rs886047606
|
0.00004
|
NM_000051.3(ATM):c.-398G>A
|
rs996438197
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
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.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg)
|
rs587779812
|
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.1556T>C (p.Val519Ala)
|
rs574458765
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.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.2180G>T (p.Gly727Val)
|
rs1446080226
|
0.00003
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
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.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.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
NM_000051.4(ATM):c.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.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.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
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.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.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.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.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.1702A>G (p.Arg568Gly)
|
rs876659425
|
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.2036G>C (p.Gly679Ala)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
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.2338A>T (p.Met780Leu)
|
rs587781446
|
0.00002
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
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.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.3841A>T (p.Ser1281Cys)
|
rs370785959
|
0.00002
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr)
|
rs1309605588
|
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.4662C>A (p.Asn1554Lys)
|
rs776761757
|
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.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.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.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000051.3(ATM):c.-229C>G
|
rs886047608
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr)
|
rs1064794119
|
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.1054A>G (p.Ile352Val)
|
rs748380019
|
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.1097_1101del (p.Ile366fs)
|
rs2079990512
|
0.00001
|
NM_000051.4(ATM):c.10G>A (p.Val4Ile)
|
rs1438588853
|
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.1135G>A (p.Asp379Asn)
|
rs1591517693
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
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.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+6G>A
|
rs2080003881
|
0.00001
|
NM_000051.4(ATM):c.1236-2dup
|
rs1555070601
|
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.1314A>G (p.Ile438Met)
|
rs770573462
|
0.00001
|
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe)
|
rs773895161
|
0.00001
|
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg)
|
rs1591523341
|
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.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
NM_000051.4(ATM):c.1441T>G (p.Leu481Val)
|
rs775080283
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
NM_000051.4(ATM):c.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.149A>G (p.Lys50Arg)
|
rs1479478300
|
0.00001
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
NM_000051.4(ATM):c.1550T>G (p.Val517Gly)
|
rs777986229
|
0.00001
|
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu)
|
rs864622262
|
0.00001
|
NM_000051.4(ATM):c.1585G>C (p.Gly529Arg)
|
rs1325651820
|
0.00001
|
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu)
|
rs587782212
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1671G>A (p.Met557Ile)
|
rs730881341
|
0.00001
|
NM_000051.4(ATM):c.1675A>G (p.Ile559Val)
|
rs1060501545
|
0.00001
|
NM_000051.4(ATM):c.167A>C (p.Asn56Thr)
|
rs1040197895
|
0.00001
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)
|
rs777301065
|
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.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
NM_000051.4(ATM):c.1782A>T (p.Glu594Asp)
|
rs876660494
|
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.1805A>G (p.Asn602Ser)
|
rs1173305253
|
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.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.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.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.2013A>G (p.Ile671Met)
|
rs1371341017
|
0.00001
|
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr)
|
rs1219097850
|
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.2080C>T (p.Leu694Phe)
|
rs759617968
|
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.2124+6A>T
|
rs550998406
|
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.2167G>T (p.Val723Leu)
|
rs1419404231
|
0.00001
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
NM_000051.4(ATM):c.2176C>A (p.Leu726Ile)
|
rs775266056
|
0.00001
|
NM_000051.4(ATM):c.2207C>T (p.Ala736Val)
|
rs587780617
|
0.00001
|
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu)
|
rs1017383703
|
0.00001
|
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr)
|
rs1060501540
|
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.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.2374A>G (p.Lys792Glu)
|
rs1423446897
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2376+6A>C
|
rs1409294054
|
0.00001
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
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.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys)
|
rs141054982
|
0.00001
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)
|
rs764842086
|
0.00001
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
0.00001
|
NM_000051.4(ATM):c.2637A>G (p.Ile879Met)
|
rs1449494151
|
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.2694A>C (p.Leu898Phe)
|
rs774395596
|
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.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala)
|
rs1265391373
|
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.2798C>G (p.Ser933Cys)
|
rs56087610
|
0.00001
|
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly)
|
rs772054979
|
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.2839-10A>G
|
rs770032309
|
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.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.3001C>G (p.Leu1001Val)
|
rs377244521
|
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.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.3147G>T (p.Leu1049Phe)
|
rs1060501686
|
0.00001
|
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln)
|
rs774935453
|
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.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.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.3291C>G (p.Phe1097Leu)
|
rs876658491
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
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.3328G>A (p.Ala1110Thr)
|
rs147112946
|
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.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)
|
rs745863765
|
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.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)
|
rs786203048
|
0.00001
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
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.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.3526C>G (p.Leu1176Val)
|
rs1462728109
|
0.00001
|
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu)
|
rs1555091359
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
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.3622_3624del (p.Asp1208del)
|
rs2082297886
|
0.00001
|
NM_000051.4(ATM):c.363A>C (p.Leu121Phe)
|
rs774555120
|
0.00001
|
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu)
|
rs1364817146
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.3679A>G (p.Thr1227Ala)
|
rs1047871047
|
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.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp)
|
rs1180341161
|
0.00001
|
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met)
|
rs765538231
|
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.3820C>T (p.Gln1274Ter)
|
rs1453429915
|
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.3857G>T (p.Cys1286Phe)
|
rs876660770
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
NM_000051.4(ATM):c.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.3995T>G (p.Ile1332Ser)
|
rs1064793805
|
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.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
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.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.4151A>G (p.His1384Arg)
|
rs757172522
|
0.00001
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4179C>G (p.Ile1393Met)
|
rs775688446
|
0.00001
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
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.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
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.4358T>G (p.Ile1453Arg)
|
rs587782126
|
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.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
NM_000051.4(ATM):c.4417A>G (p.Ile1473Val)
|
rs1565456980
|
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.4436+10A>G
|
rs878853509
|
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.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile)
|
rs370574283
|
0.00001
|
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala)
|
rs767466937
|
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.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.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.4618G>T (p.Asp1540Tyr)
|
rs778622948
|
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.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.4759C>G (p.Pro1587Ala)
|
rs786202473
|
0.00001
|
NM_000051.4(ATM):c.475A>G (p.Ile159Val)
|
rs1565357315
|
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.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.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.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.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.4963T>C (p.Ser1655Pro)
|
rs1376280581
|
0.00001
|
NM_000051.4(ATM):c.4972G>A (p.Ala1658Thr)
|
rs372679141
|
0.00001
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
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.5054C>T (p.Thr1685Ile)
|
rs879254191
|
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.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser)
|
rs1291016764
|
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.5176T>G (p.Cys1726Gly)
|
rs770882126
|
0.00001
|
NM_000051.4(ATM):c.5178-10T>A
|
rs1565476613
|
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.5195C>G (p.Ala1732Gly)
|
rs1565476801
|
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.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.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5319+6_5319+7del
|
rs777478613
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
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.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
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.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.554T>C (p.Val185Ala)
|
rs730881335
|
0.00001
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
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.5635C>A (p.Gln1879Lys)
|
rs756109905
|
0.00001
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.566G>C (p.Arg189Thr)
|
rs79075295
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.5675-10T>G
|
rs377599533
|
0.00001
|
NM_000051.4(ATM):c.5685C>A (p.His1895Gln)
|
rs889445709
|
0.00001
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
NM_000051.4(ATM):c.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.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.663-8C>A
|
rs1060501661
|
0.00001
|
NM_000051.4(ATM):c.672G>T (p.Lys224Asn)
|
rs769731317
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
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.718C>T (p.Leu240Phe)
|
rs1210038351
|
0.00001
|
NM_000051.4(ATM):c.722A>G (p.Lys241Arg)
|
rs1021907990
|
0.00001
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
NM_000051.4(ATM):c.738C>G (p.Asn246Lys)
|
rs1335108218
|
0.00001
|
NM_000051.4(ATM):c.754T>A (p.Cys252Ser)
|
rs863224580
|
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.839T>C (p.Ile280Thr)
|
rs587782080
|
0.00001
|
NM_000051.4(ATM):c.86A>C (p.Lys29Thr)
|
rs147009251
|
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.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.976A>T (p.Ile326Leu)
|
rs1555068422
|
0.00001
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
NM_000051.4(ATM):c.989G>C (p.Gly330Ala)
|
rs762179829
|
0.00001
|
NC_000011.10:g.(?_108227615)_(108259085_?)dup
|
|
|
NC_000011.10:g.(?_108244778)_(108365518_?)dup
|
|
|
NC_000011.10:g.(?_108256205)_(108365508_?)dup
|
|
|
NC_000011.10:g.(?_108257471)_(108259085_?)del
|
|
|
NC_000011.10:g.(?_108258976)_(108335971_?)dup
|
|
|
NC_000011.10:g.(?_108267161)_(108268619_?)del
|
|
|
NC_000011.10:g.(?_108272522)_(108282889_?)dup
|
|
|
NC_000011.10:g.(?_108297277)_(108297392_?)dup
|
|
|
NC_000011.10:g.(?_108331434)_(108335971_?)dup
|
|
|
NC_000011.10:g.(?_108332752)_(108354884_?)dup
|
|
|
NC_000011.10:g.(?_108335835)_(108365508_?)dup
|
|
|
NC_000011.10:g.(?_108335835)_(108365518_?)dup
|
|
|
NC_000011.10:g.(?_108343212)_(108354884_?)dup
|
|
|
NC_000011.9:g.(?_108098342)_(108158452_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108098625_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108106571_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108117864_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108216655_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108099895)_(108119839_?)dup
|
|
|
NC_000011.9:g.(?_108106377)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108106387)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108114670)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108126932)_(108129812_?)del
|
|
|
NC_000011.9:g.(?_108126936)_(108129808_?)dup
|
|
|
NC_000011.9:g.(?_108143253)_(108153612_?)dup
|
|
|
NC_000011.9:g.(?_108159694)_(108160538_?)del
|
|
|
NC_000011.9:g.(?_108170929)_(108196046_?)del
|
|
|
NC_000011.9:g.(?_108172365)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108190671)_(108190795_?)dup
|
|
|
NC_000011.9:g.(?_108205686)_(108236245_?)dup
|
|
|
NC_000011.9:g.(?_108213939)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108215207)_(108216339_?)del
|
|
|
NC_000011.9:g.(?_108235789)_(108236235_?)dup
|
|
|
NM_000051.3(ATM):c.-222T>A
|
rs557953523
|
|
NM_000051.3(ATM):c.-235delC
|
rs886047607
|
|
NM_000051.3(ATM):c.332_334delGAG
|
rs1060501621
|
|
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
|
|
|
NM_000051.4(ATM):c.-31+595G>A
|
rs1555051574
|
|
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu)
|
rs1440510829
|
|
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys)
|
rs1018587967
|
|
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>T (p.Arg337Leu)
|
rs202160435
|
|
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.1014T>A (p.Asn338Lys)
|
|
|
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.1018G>A (p.Ala340Thr)
|
|
|
NM_000051.4(ATM):c.1018G>T (p.Ala340Ser)
|
|
|
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.1019C>T (p.Ala340Val)
|
rs730881387
|
|
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg)
|
rs1064794119
|
|
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys)
|
rs2135268427
|
|
NM_000051.4(ATM):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr)
|
rs587782526
|
|
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)
|
|
|
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>C (p.Glu347Gln)
|
rs529202615
|
|
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu)
|
rs1555068567
|
|
NM_000051.4(ATM):c.1041A>C (p.Glu347Asp)
|
|
|
NM_000051.4(ATM):c.1041A>T (p.Glu347Asp)
|
|
|
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser)
|
rs2079890107
|
|
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe)
|
rs879254039
|
|
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)
|
|
|
NM_000051.4(ATM):c.1046T>C (p.Met349Thr)
|
rs1555068577
|
|
NM_000051.4(ATM):c.1046T>G (p.Met349Arg)
|
rs1555068577
|
|
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr)
|
rs371713984
|
|
NM_000051.4(ATM):c.1051G>C (p.Asp351His)
|
rs876659092
|
|
NM_000051.4(ATM):c.1052A>C (p.Asp351Ala)
|
|
|
NM_000051.4(ATM):c.1052A>G (p.Asp351Gly)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1056C>G (p.Ile352Met)
|
rs1555068605
|
|
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg)
|
rs2135269388
|
|
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr)
|
rs1591511538
|
|
NM_000051.4(ATM):c.1060C>T (p.His354Tyr)
|
rs2079892237
|
|
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg)
|
rs2079892563
|
|
NM_000051.4(ATM):c.1065+11T>C
|
|
|
NM_000051.4(ATM):c.1065+13G>A
|
rs2135270116
|
|
NM_000051.4(ATM):c.1065+3A>G
|
rs1282724169
|
|
NM_000051.4(ATM):c.1065+4del
|
rs2135269839
|
|
NM_000051.4(ATM):c.1065+5A>C
|
rs1204741025
|
|
NM_000051.4(ATM):c.1065+9A>G
|
|
|
NM_000051.4(ATM):c.1065+9del
|
|
|
NM_000051.4(ATM):c.1065G>A (p.Gln355=)
|
|
|
NM_000051.4(ATM):c.1066-16_1066-10del
|
|
|
NM_000051.4(ATM):c.1066-3C>T
|
rs1565378708
|
|
NM_000051.4(ATM):c.1066G>A (p.Val356Ile)
|
rs2079987798
|
|
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser)
|
rs2135290032
|
|
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)
|
rs2079988487
|
|
NM_000051.4(ATM):c.1079A>T (p.Asp360Val)
|
rs775767808
|
|
NM_000051.4(ATM):c.107A>C (p.Asp36Ala)
|
rs1488019755
|
|
NM_000051.4(ATM):c.107A>G (p.Asp36Gly)
|
rs1488019755
|
|
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)
|
rs1565378803
|
|
NM_000051.4(ATM):c.1082C>G (p.Thr361Ser)
|
rs1565378803
|
|
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.1088C>T (p.Ser363Phe)
|
rs1555069560
|
|
NM_000051.4(ATM):c.1090T>G (p.Leu364Val)
|
rs764821887
|
|
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser)
|
rs1555069575
|
|
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.1099T>C (p.Ser367Pro)
|
rs879254236
|
|
NM_000051.4(ATM):c.10G>T (p.Val4Leu)
|
rs1438588853
|
|
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr)
|
rs2079990831
|
|
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe)
|
rs2079990831
|
|
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)
|
rs1565378912
|
|
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.1106C>G (p.Ser369Cys)
|
rs762557654
|
|
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)
|
rs762557654
|
|
NM_000051.4(ATM):c.110C>G (p.Pro37Arg)
|
rs1591446947
|
|
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.1114A>T (p.Thr372Ser)
|
|
|
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile)
|
rs765912563
|
|
NM_000051.4(ATM):c.1116_1117delinsAC (p.Thr373Pro)
|
|
|
NM_000051.4(ATM):c.1117A>G (p.Thr373Ala)
|
rs751092163
|
|
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg)
|
rs876659275
|
|
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg)
|
rs1555069640
|
|
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.1133G>A (p.Ser378Asn)
|
rs1591517681
|
|
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.1142G>A (p.Ser381Asn)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1145T>A (p.Val382Asp)
|
|
|
NM_000051.4(ATM):c.1147C>G (p.Pro383Ala)
|
rs864622650
|
|
NM_000051.4(ATM):c.1147C>T (p.Pro383Ser)
|
rs864622650
|
|
NM_000051.4(ATM):c.1148C>G (p.Pro383Arg)
|
rs1555069702
|
|
NM_000051.4(ATM):c.1148C>T (p.Pro383Leu)
|
rs1555069702
|
|
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly)
|
rs2135293079
|
|
NM_000051.4(ATM):c.1151G>C (p.Cys384Ser)
|
|
|
NM_000051.4(ATM):c.1154_1156del (p.Lys385del)
|
rs2135293203
|
|
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys)
|
rs878853484
|
|
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>C (p.Lys387Asn)
|
|
|
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.1164A>T (p.Lys388Asn)
|
|
|
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu)
|
rs1060501704
|
|
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.1169A>G (p.Glu390Gly)
|
rs2135293668
|
|
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile)
|
rs2135293721
|
|
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.1177T>C (p.Trp393Arg)
|
|
|
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly)
|
rs2135293953
|
|
NM_000051.4(ATM):c.1184T>C (p.Val395Ala)
|
rs1591517993
|
|
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn)
|
rs2079998724
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn)
|
rs2079999164
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
NM_000051.4(ATM):c.1193A>T (p.Asp398Val)
|
|
|
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)
|
rs551872656
|
|
NM_000051.4(ATM):c.1195C>T (p.His399Tyr)
|
rs1565379474
|
|
NM_000051.4(ATM):c.1197C>G (p.His399Gln)
|
rs786201131
|
|
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000051.4(ATM):c.1199T>G (p.Leu400Arg)
|
|
|
NM_000051.4(ATM):c.11T>C (p.Val4Ala)
|
rs1555053873
|
|
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu)
|
rs772529339
|
|
NM_000051.4(ATM):c.1203G>T (p.Gln401His)
|
rs1214283617
|
|
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.1213A>G (p.Asn405Asp)
|
|
|
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)
|
|
|
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.1225C>A (p.Leu409Ile)
|
rs786203815
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
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.1235+5A>C
|
rs1064793679
|
|
NM_000051.4(ATM):c.1235+5A>G
|
rs1064793679
|
|
NM_000051.4(ATM):c.1236-1_1237del
|
rs1591522664
|
|
NM_000051.4(ATM):c.1236-2_1236del
|
rs1591522646
|
|
NM_000051.4(ATM):c.1236-2_1237del
|
rs1591522650
|
|
NM_000051.4(ATM):c.1236-3T>A
|
rs763976313
|
|
NM_000051.4(ATM):c.1236-3T>C
|
rs763976313
|
|
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)
|
rs79220522
|
|
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)
|
rs866521873
|
|
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro)
|
rs2080088877
|
|
NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)
|
|
|
NM_000051.4(ATM):c.1242G>T (p.Gln414His)
|
rs786203667
|
|
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)
|
rs1591522756
|
|
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn)
|
rs1565381748
|
|
NM_000051.4(ATM):c.1245T>G (p.Ile415Met)
|
rs1060501554
|
|
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
|
|
|
NM_000051.4(ATM):c.1247C>T (p.Ala416Val)
|
rs2080089501
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
NM_000051.4(ATM):c.124C>A (p.His42Asn)
|
rs1591447034
|
|
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
|
|
|
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu)
|
rs1565381867
|
|
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr)
|
rs2080090371
|
|
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del)
|
rs1555070659
|
|
NM_000051.4(ATM):c.1266G>C (p.Lys422Asn)
|
rs1057520445
|
|
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)
|
|
|
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala)
|
rs1591522957
|
|
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)
|
|
|
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu)
|
rs147472613
|
|
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.1277G>A (p.Ser426Asn)
|
rs1350528190
|
|
NM_000051.4(ATM):c.1278T>G (p.Ser426Arg)
|
rs2135317047
|
|
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)
|
rs772591447
|
|
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)
|
|
|
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
|
|
|
NM_000051.4(ATM):c.1294_1295delinsGG (p.Leu432Gly)
|
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)
|
rs546621356
|
|
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
|
|
|
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.1301C>T (p.Pro434Leu)
|
rs2080093920
|
|
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln)
|
rs1060501608
|
|
NM_000051.4(ATM):c.1309A>C (p.Met437Leu)
|
rs2135318098
|
|
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)
|
|
|
NM_000051.4(ATM):c.130G>C (p.Asp44His)
|
|
|
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr)
|
rs1320733816
|
|
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)
|
|
|
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln)
|
rs2080095349
|
|
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro)
|
rs2080095349
|
|
NM_000051.4(ATM):c.131A>T (p.Asp44Val)
|
rs150143957
|
|
NM_000051.4(ATM):c.1323G>C (p.Gln441His)
|
|
|
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe)
|
rs1060501574
|
|
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro)
|
rs1064794732
|
|
NM_000051.4(ATM):c.1327C>G (p.Leu443Val)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1330C>T (p.Pro444Ser)
|
|
|
NM_000051.4(ATM):c.1331C>A (p.Pro444His)
|
rs2080096939
|
|
NM_000051.4(ATM):c.1331C>T (p.Pro444Leu)
|
|
|
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys)
|
rs587782121
|
|
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg)
|
rs1292838154
|
|
NM_000051.4(ATM):c.1340G>C (p.Arg447Pro)
|
rs760676955
|
|
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)
|
rs760676955
|
|
NM_000051.4(ATM):c.1342C>G (p.His448Asp)
|
|
|
NM_000051.4(ATM):c.1342C>T (p.His448Tyr)
|
rs2080098243
|
|
NM_000051.4(ATM):c.1343A>T (p.His448Leu)
|
|
|
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)
|
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys)
|
rs1555070786
|
|
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly)
|
rs201719927
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu)
|
rs786204124
|
|
NM_000051.4(ATM):c.1360T>C (p.Tyr454His)
|
rs1555070814
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
NM_000051.4(ATM):c.1369C>G (p.Arg457Gly)
|
rs749036865
|
|
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)
|
rs780097986
|
|
NM_000051.4(ATM):c.1370G>C (p.Arg457Pro)
|
|
|
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>G (p.Cys458Trp)
|
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.137A>C (p.His46Pro)
|
rs1591447177
|
|
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys)
|
rs781578507
|
|
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly)
|
rs2080102342
|
|
NM_000051.4(ATM):c.1385T>C (p.Val462Ala)
|
rs1555070869
|
|
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr)
|
rs1565382695
|
|
NM_000051.4(ATM):c.1388C>G (p.Ala463Gly)
|
|
|
NM_000051.4(ATM):c.138T>G (p.His46Gln)
|
rs770834907
|
|
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe)
|
rs760191806
|
|
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)
|
|
|
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser)
|
rs1555070888
|
|
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.1398A>G (p.Gln466=)
|
rs1591523834
|
|
NM_000051.4(ATM):c.1399G>A (p.Asp467Asn)
|
rs2135321547
|
|
NM_000051.4(ATM):c.13C>G (p.Leu5Val)
|
rs2078805774
|
|
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)
|
|
|
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu)
|
rs2135321564
|
|
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.1406G>A (p.Arg469Lys)
|
|
|
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu)
|
rs1591523878
|
|
NM_000051.4(ATM):c.1411A>C (p.Asn471His)
|
rs2080104786
|
|
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys)
|
rs1565382834
|
|
NM_000051.4(ATM):c.1417G>C (p.Glu473Gln)
|
|
|
NM_000051.4(ATM):c.1418A>G (p.Glu473Gly)
|
rs1555070923
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)
|
rs1397399631
|
|
NM_000051.4(ATM):c.1427A>T (p.Gln476Leu)
|
rs1397399631
|
|
NM_000051.4(ATM):c.1429A>G (p.Lys477Glu)
|
rs2080106015
|
|
NM_000051.4(ATM):c.142G>C (p.Asp48His)
|
rs2135013650
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro)
|
rs2080106232
|
|
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)
|
|
|
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr)
|
rs1555070953
|
|
NM_000051.4(ATM):c.1436A>C (p.Asp479Ala)
|
rs1555070958
|
|
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile)
|
rs879254243
|
|
NM_000051.4(ATM):c.143A>G (p.Asp48Gly)
|
rs2078822797
|
|
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe)
|
rs370240037
|
|
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)
|
rs753808755
|
|
NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)
|
|
|
NM_000051.4(ATM):c.1447C>T (p.Leu483Phe)
|
rs2135323121
|
|
NM_000051.4(ATM):c.1448T>C (p.Leu483Pro)
|
rs2080107968
|
|
NM_000051.4(ATM):c.1450T>C (p.Trp484Arg)
|
rs2080108178
|
|
NM_000051.4(ATM):c.1453A>G (p.Asn485Asp)
|
|
|
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys)
|
rs1385019623
|
|
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)
|
|
|
NM_000051.4(ATM):c.145T>A (p.Ser49Thr)
|
rs2135013712
|
|
NM_000051.4(ATM):c.1460T>C (p.Ile487Thr)
|
|
|
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg)
|
rs2135323595
|
|
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
|
|
|
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)
|
|
|
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys)
|
rs377597949
|
|
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly)
|
rs1591524158
|
|
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser)
|
rs776412334
|
|
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.1470T>G (p.Ile490Met)
|
|
|
NM_000051.4(ATM):c.1478G>A (p.Arg493His)
|
rs1565383235
|
|
NM_000051.4(ATM):c.1481G>C (p.Gly494Ala)
|
|
|
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.1484T>G (p.Ile495Arg)
|
|
|
NM_000051.4(ATM):c.1485A>G (p.Ile495Met)
|
rs1565383283
|
|
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile)
|
rs778890679
|
|
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr)
|
rs2080111322
|
|
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
|
|
|
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr)
|
rs1375637948
|
|
NM_000051.4(ATM):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe)
|
rs2135324525
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
NM_000051.4(ATM):c.1493A>G (p.Glu498Gly)
|
|
|
NM_000051.4(ATM):c.1494G>C (p.Glu498Asp)
|
rs763108858
|
|
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu)
|
rs2080112487
|
|
NM_000051.4(ATM):c.1500A>G (p.Ile500Met)
|
rs2135324896
|
|
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr)
|
rs2080112799
|
|
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)
|
|
|
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
|
|
|
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp)
|
rs2135325176
|
|
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr)
|
rs56365018
|
|
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu)
|
rs1591524421
|
|
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)
|
rs1555071109
|
|
NM_000051.4(ATM):c.151_153del (p.Gln51del)
|
|
|
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe)
|
rs1011518082
|
|
NM_000051.4(ATM):c.1523T>C (p.Leu508Pro)
|
rs1565383502
|
|
NM_000051.4(ATM):c.1525G>A (p.Gly509Arg)
|
|
|
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
|
|
|
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.1532T>C (p.Ile511Thr)
|
rs2080115491
|
|
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg)
|
rs2080115491
|
|
NM_000051.4(ATM):c.1533A>G (p.Ile511Met)
|
rs2080115604
|
|
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser)
|
rs2135326136
|
|
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.1539G>C (p.Gln513His)
|
rs2080116342
|
|
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys)
|
rs1591524652
|
|
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)
|
rs786202195
|
|
NM_000051.4(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr)
|
rs1555071174
|
|
NM_000051.4(ATM):c.1549G>A (p.Val517Ile)
|
rs2080117236
|
|
NM_000051.4(ATM):c.154G>A (p.Gly52Arg)
|
rs730881362
|
|
NM_000051.4(ATM):c.154G>C (p.Gly52Arg)
|
rs730881362
|
|
NM_000051.4(ATM):c.1550T>A (p.Val517Asp)
|
rs777986229
|
|
NM_000051.4(ATM):c.1550T>C (p.Val517Ala)
|
rs777986229
|
|
NM_000051.4(ATM):c.1553_1555del (p.Glu518del)
|
|
|
NM_000051.4(ATM):c.1554G>C (p.Glu518Asp)
|
rs2080117769
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
NM_000051.4(ATM):c.1555G>T (p.Val519Phe)
|
rs758056561
|
|
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn)
|
rs2080118143
|
|
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly)
|
rs2080118357
|
|
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys)
|
rs2080118610
|
|
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
|
|
|
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser)
|
rs768038315
|
|
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
|
|
|
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys)
|
rs1060501667
|
|
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn)
|
rs587780613
|
|
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser)
|
rs2080119755
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)
|
rs876658647
|
|
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
|
|
|
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu)
|
rs1555071242
|
|
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu)
|
rs2080120731
|
|
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)
|
|
|
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro)
|
rs876660941
|
|
NM_000051.4(ATM):c.1591G>T (p.Ala531Ser)
|
rs876660941
|
|
NM_000051.4(ATM):c.1592C>T (p.Ala531Val)
|
rs1591524927
|
|
NM_000051.4(ATM):c.1598G>T (p.Arg533Ile)
|
rs2080121541
|
|
NM_000051.4(ATM):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)
|
rs587782212
|
|
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg)
|
rs2135328461
|
|
NM_000051.4(ATM):c.1607+10_1607+11delinsTT
|
|
|
NM_000051.4(ATM):c.1607+2dup
|
rs2135328592
|
|
NM_000051.4(ATM):c.1607+3A>G
|
rs2080122454
|
|
NM_000051.4(ATM):c.1607+4A>G
|
|
|
NM_000051.4(ATM):c.1607+5G>A
|
rs766535949
|
|
NM_000051.4(ATM):c.1607G>C (p.Cys536Ser)
|
|
|
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe)
|
rs769788188
|
|
NM_000051.4(ATM):c.1608-5T>C
|
|
|
NM_000051.4(ATM):c.1608-6T>C
|
|
|
NM_000051.4(ATM):c.1608T>C (p.Cys536=)
|
rs2080162888
|
|
NM_000051.4(ATM):c.1608T>G (p.Cys536Trp)
|
|
|
NM_000051.4(ATM):c.1610C>A (p.Pro537His)
|
rs587782463
|
|
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg)
|
rs587782463
|
|
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu)
|
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.1613C>T (p.Ala538Val)
|
rs1565385040
|
|
NM_000051.4(ATM):c.1621T>C (p.Cys541Arg)
|
rs2080164132
|
|
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.1625T>G (p.Leu542Trp)
|
|
|
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
|
|
|
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile)
|
rs772874616
|
|
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr)
|
rs1565385130
|
|
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro)
|
rs1565385130
|
|
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro)
|
rs1565385177
|
|
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
|
|
|
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.1644C>T (p.Thr548=)
|
|
|
NM_000051.4(ATM):c.1645A>G (p.Ser549Gly)
|
|
|
NM_000051.4(ATM):c.1645A>T (p.Ser549Cys)
|
|
|
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn)
|
rs2080166953
|
|
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)
|
|
|
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr)
|
rs864622285
|
|
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>G (p.Ile550Met)
|
rs1060501606
|
|
NM_000051.4(ATM):c.1651G>A (p.Val551Ile)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg)
|
rs2135340121
|
|
NM_000051.4(ATM):c.1655C>T (p.Pro552Leu)
|
|
|
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)
|
|
|
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.1661C>A (p.Thr554Lys)
|
rs1060501694
|
|
NM_000051.4(ATM):c.1663G>T (p.Val555Leu)
|
rs2080168708
|
|
NM_000051.4(ATM):c.1665A>G (p.Val555=)
|
rs754367168
|
|
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)
|
|
|
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.1673G>A (p.Gly558Glu)
|
|
|
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1676T>C (p.Ile559Thr)
|
rs2080169884
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly)
|
rs762476611
|
|
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu)
|
rs2080170537
|
|
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
|
|
|
NM_000051.4(ATM):c.1684A>G (p.Asn562Asp)
|
|
|
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr)
|
rs368209025
|
|
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile)
|
rs368209025
|
|
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.168T>G (p.Asn56Lys)
|
rs1591447362
|
|
NM_000051.4(ATM):c.1691G>T (p.Cys564Phe)
|
|
|
NM_000051.4(ATM):c.1692T>G (p.Cys564Trp)
|
|
|
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys)
|
rs2080171822
|
|
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
|
|
|
NM_000051.4(ATM):c.1697T>C (p.Val566Ala)
|
rs2080172143
|
|
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr)
|
rs2135341638
|
|
NM_000051.4(ATM):c.169T>C (p.Trp57Arg)
|
rs1555054238
|
|
NM_000051.4(ATM):c.169T>G (p.Trp57Gly)
|
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
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.1714T>A (p.Leu572Ile)
|
rs749216212
|
|
NM_000051.4(ATM):c.1714T>G (p.Leu572Val)
|
rs749216212
|
|
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.1721A>C (p.Glu574Ala)
|
rs1565385690
|
|
NM_000051.4(ATM):c.1721A>G (p.Glu574Gly)
|
|
|
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp)
|
rs372334891
|
|
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)
|
rs1565385720
|
|
NM_000051.4(ATM):c.1729A>C (p.Met577Leu)
|
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.1730T>G (p.Met577Arg)
|
|
|
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln)
|
rs1555071926
|
|
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)
|
|
|
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg)
|
rs1266358260
|
|
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
|
|
|
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe)
|
rs1555071952
|
|
NM_000051.4(ATM):c.1739T>A (p.Leu580His)
|
rs890554688
|
|
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro)
|
rs890554688
|
|
NM_000051.4(ATM):c.173A>G (p.Asp58Gly)
|
rs1378701359
|
|
NM_000051.4(ATM):c.173A>T (p.Asp58Val)
|
rs1378701359
|
|
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)
|
|
|
NM_000051.4(ATM):c.1747T>C (p.Tyr583His)
|
rs2135342937
|
|
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser)
|
rs587780614
|
|
NM_000051.4(ATM):c.1752G>C (p.Gln584His)
|
|
|
NM_000051.4(ATM):c.1756G>A (p.Glu586Lys)
|
rs1565386004
|
|
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln)
|
rs1565386004
|
|
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.1759G>C (p.Gly587Arg)
|
rs879254227
|
|
NM_000051.4(ATM):c.1760G>A (p.Gly587Asp)
|
rs1060501553
|
|
NM_000051.4(ATM):c.1760G>T (p.Gly587Val)
|
rs1060501553
|
|
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)
|
rs2080177696
|
|
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.1778C>G (p.Thr593Arg)
|
rs2135343992
|
|
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile)
|
rs2135343992
|
|
NM_000051.4(ATM):c.1783G>A (p.Val595Met)
|
rs2080179332
|
|
NM_000051.4(ATM):c.1786C>A (p.Pro596Thr)
|
|
|
NM_000051.4(ATM):c.1786C>G (p.Pro596Ala)
|
|
|
NM_000051.4(ATM):c.1787C>T (p.Pro596Leu)
|
|
|
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala)
|
rs1555072070
|
|
NM_000051.4(ATM):c.178G>A (p.Val60Ile)
|
rs1166668199
|
|
NM_000051.4(ATM):c.178G>C (p.Val60Leu)
|
rs1166668199
|
|
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu)
|
rs730881343
|
|
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe)
|
rs1312313805
|
|
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro)
|
rs1555072082
|
|
NM_000051.4(ATM):c.1798C>A (p.His600Asn)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1798C>T (p.His600Tyr)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1799A>G (p.His600Arg)
|
rs2080180530
|
|
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly)
|
rs1591528484
|
|
NM_000051.4(ATM):c.1802+1del
|
|
|
NM_000051.4(ATM):c.1802+3A>C
|
|
|
NM_000051.4(ATM):c.1802+3A>G
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802+3A>T
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn)
|
rs763402339
|
|
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr)
|
rs763402339
|
|
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp)
|
rs2080226309
|
|
NM_000051.4(ATM):c.1805A>C (p.Asn602Thr)
|
rs1173305253
|
|
NM_000051.4(ATM):c.1808T>G (p.Phe603Cys)
|
rs2135352513
|
|
NM_000051.4(ATM):c.1811C>G (p.Pro604Arg)
|
|
|
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu)
|
rs1565387411
|
|
NM_000051.4(ATM):c.1813C>G (p.His605Asp)
|
rs786202928
|
|
NM_000051.4(ATM):c.1813C>T (p.His605Tyr)
|
rs786202928
|
|
NM_000051.4(ATM):c.1814A>C (p.His605Pro)
|
rs771877351
|
|
NM_000051.4(ATM):c.1814A>T (p.His605Leu)
|
|
|
NM_000051.4(ATM):c.1817T>C (p.Leu606Pro)
|
|
|
NM_000051.4(ATM):c.1819G>A (p.Val607Ile)
|
rs878853489
|
|
NM_000051.4(ATM):c.1819G>T (p.Val607Leu)
|
rs878853489
|
|
NM_000051.4(ATM):c.181T>A (p.Phe61Ile)
|
rs2078825833
|
|
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.1826A>T (p.Glu609Val)
|
rs2080227710
|
|
NM_000051.4(ATM):c.1827G>T (p.Glu609Asp)
|
rs1555072460
|
|
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg)
|
rs1555072464
|
|
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)
|
|
|
NM_000051.4(ATM):c.182T>C (p.Phe61Ser)
|
rs786203063
|
|
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)
|
|
|
NM_000051.4(ATM):c.1834C>A (p.Leu612Ile)
|
|
|
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.1835T>C (p.Leu612Pro)
|
rs1555072474
|
|
NM_000051.4(ATM):c.1837G>A (p.Val613Met)
|
rs200124136
|
|
NM_000051.4(ATM):c.1838T>C (p.Val613Ala)
|
rs762018538
|
|
NM_000051.4(ATM):c.1841G>A (p.Ser614Asn)
|
|
|
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile)
|
rs770377706
|
|
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg)
|
rs1060501523
|
|
NM_000051.4(ATM):c.1843C>G (p.Leu615Val)
|
rs1380546088
|
|
NM_000051.4(ATM):c.1844T>A (p.Leu615His)
|
|
|
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.1847C>G (p.Thr616Ser)
|
|
|
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile)
|
rs533129312
|
|
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
|
|
|
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+3A>G
|
rs1372755571
|
|
NM_000051.4(ATM):c.185+4T>G
|
rs1060501685
|
|
NM_000051.4(ATM):c.185+6C>G
|
rs1555054299
|
|
NM_000051.4(ATM):c.185+6C>T
|
rs1555054299
|
|
NM_000051.4(ATM):c.1851G>A (p.Met617Ile)
|
|
|
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)
|
|
|
NM_000051.4(ATM):c.1858T>A (p.Cys620Ser)
|
rs2080230578
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
NM_000051.4(ATM):c.186-13T>A
|
rs2135032350
|
|
NM_000051.4(ATM):c.1868C>T (p.Ala623Val)
|
|
|
NM_000051.4(ATM):c.1870A>C (p.Met624Leu)
|
rs863224557
|
|
NM_000051.4(ATM):c.1872G>C (p.Met624Ile)
|
rs1060501530
|
|
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr)
|
rs2080231346
|
|
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.1897T>C (p.Cys633Arg)
|
rs1555072606
|
|
NM_000051.4(ATM):c.1898+5G>A
|
rs1372634189
|
|
NM_000051.4(ATM):c.1898+5_1898+6delinsAA
|
rs2135355386
|
|
NM_000051.4(ATM):c.1898+5del
|
rs2135355372
|
|
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser)
|
|
|
NM_000051.4(ATM):c.1899-17A>G
|
rs2135365023
|
|
NM_000051.4(ATM):c.1899-18G>T
|
|
|
NM_000051.4(ATM):c.1899-24_1899-5del
|
|
|
NM_000051.4(ATM):c.1899-3A>G
|
rs1555073062
|
|
NM_000051.4(ATM):c.1899-4G>A
|
rs2135365402
|
|
NM_000051.4(ATM):c.1899-5T>C
|
rs1591533679
|
|
NM_000051.4(ATM):c.1899-5T>G
|
rs1591533679
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
NM_000051.4(ATM):c.1899-8T>A
|
|
|
NM_000051.4(ATM):c.1899-8T>C
|
|
|
NM_000051.4(ATM):c.1899-8dup
|
|
|
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp)
|
rs1040176168
|
|
NM_000051.4(ATM):c.1901A>G (p.Glu634Gly)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1905C>A (p.His635Gln)
|
rs1020808836
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
NM_000051.4(ATM):c.1906C>G (p.His636Asp)
|
|
|
NM_000051.4(ATM):c.1906C>T (p.His636Tyr)
|
rs786203654
|
|
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
|
|
|
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)
|
rs1565389611
|
|
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn)
|
rs587781753
|
|
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.1916A>T (p.Asp639Val)
|
rs1591533846
|
|
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu)
|
rs879254190
|
|
NM_000051.4(ATM):c.1918_1920del (p.Lys640del)
|
rs2135366155
|
|
NM_000051.4(ATM):c.1919A>C (p.Lys640Thr)
|
rs2135366191
|
|
NM_000051.4(ATM):c.1919A>G (p.Lys640Arg)
|
|
|
NM_000051.4(ATM):c.1921G>C (p.Glu641Gln)
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys)
|
rs1057519364
|
|
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp)
|
rs786201469
|
|
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
|
|
|
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr)
|
rs1555073128
|
|
NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)
|
|
|
NM_000051.4(ATM):c.1931C>T (p.Ser644Leu)
|
|
|
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
|
|
|
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu)
|
rs876659709
|
|
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro)
|
rs1485023251
|
|
NM_000051.4(ATM):c.1937C>T (p.Ser646Leu)
|
|
|
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys)
|
rs1060501599
|
|
NM_000051.4(ATM):c.1941A>C (p.Glu647Asp)
|
rs2080297000
|
|
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
|
|
|
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.1948G>A (p.Glu650Lys)
|
rs2135367169
|
|
NM_000051.4(ATM):c.1948G>C (p.Glu650Gln)
|
|
|
NM_000051.4(ATM):c.194A>G (p.Gln65Arg)
|
rs760471526
|
|
NM_000051.4(ATM):c.1952T>A (p.Leu651Gln)
|
rs1555073179
|
|
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.1957C>T (p.Leu653Phe)
|
|
|
NM_000051.4(ATM):c.195G>C (p.Gln65His)
|
rs1555055072
|
|
NM_000051.4(ATM):c.1962G>T (p.Gln654His)
|
rs1416371202
|
|
NM_000051.4(ATM):c.1963A>G (p.Thr655Ala)
|
|
|
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.196A>G (p.Lys66Glu)
|
rs1565346656
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1972G>C (p.Asp658His)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1973A>T (p.Asp658Val)
|
rs1177954052
|
|
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu)
|
rs1555073229
|
|
NM_000051.4(ATM):c.1975A>C (p.Lys659Gln)
|
|
|
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
|
|
|
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)
|
rs1565390043
|
|
NM_000051.4(ATM):c.1976A>T (p.Lys659Met)
|
rs1565390043
|
|
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn)
|
rs1060501565
|
|
NM_000051.4(ATM):c.1979T>A (p.Met660Lys)
|
rs1298234172
|
|
NM_000051.4(ATM):c.1979T>C (p.Met660Thr)
|
rs1298234172
|
|
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
|
|
|
NM_000051.4(ATM):c.1980G>T (p.Met660Ile)
|
rs2080301342
|
|
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>C (p.Asp661Ala)
|
rs1565390124
|
|
NM_000051.4(ATM):c.198A>T (p.Lys66Asn)
|
rs540920248
|
|
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
|
|
|
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.19G>C (p.Asp7His)
|
rs2078806188
|
|
NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)
|
|
|
NM_000051.4(ATM):c.19_21del (p.Asp7del)
|
|
|
NM_000051.4(ATM):c.2008G>A (p.Gly670Ser)
|
|
|
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp)
|
rs887944555
|
|
NM_000051.4(ATM):c.2009G>T (p.Gly670Val)
|
rs887944555
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)
|
rs730881344
|
|
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln)
|
rs2080305905
|
|
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.2029A>G (p.Ser677Gly)
|
rs568026188
|
|
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)
|
|
|
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)
|
rs2080308052
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
NM_000051.4(ATM):c.2038T>C (p.Phe680Leu)
|
|
|
NM_000051.4(ATM):c.203T>C (p.Ile68Thr)
|
rs1591451502
|
|
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2044G>C (p.Val682Leu)
|
|
|
NM_000051.4(ATM):c.2044G>T (p.Val682Phe)
|
rs2135369797
|
|
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
|
|
|
NM_000051.4(ATM):c.2047C>T (p.His683Tyr)
|
rs1565390482
|
|
NM_000051.4(ATM):c.2052G>C (p.Gln684His)
|
rs775890872
|
|
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.2059A>C (p.Lys687Gln)
|
rs2135370162
|
|
NM_000051.4(ATM):c.205C>A (p.Gln69Lys)
|
rs876660631
|
|
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg)
|
rs2080312441
|
|
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln)
|
rs769338089
|
|
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del)
|
rs2135370232
|
|
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu)
|
rs1591534804
|
|
NM_000051.4(ATM):c.2068C>A (p.Leu690Met)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro)
|
rs1555073438
|
|
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)
|
|
|
NM_000051.4(ATM):c.2071G>C (p.Asp691His)
|
rs762394404
|
|
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)
|
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe)
|
rs2135370698
|
|
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)
|
rs879254178
|
|
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)
|
|
|
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu)
|
rs752550257
|
|
NM_000051.4(ATM):c.2087G>T (p.Gly696Val)
|
rs752550257
|
|
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)
|
|
|
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala)
|
rs2135371120
|
|
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
NM_000051.4(ATM):c.2098C>A (p.Gln700Lys)
|
rs786202743
|
|
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu)
|
rs786202743
|
|
NM_000051.4(ATM):c.2102T>C (p.Leu701Pro)
|
|
|
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)
|
rs1555073490
|
|
NM_000051.4(ATM):c.2107A>C (p.Asn703His)
|
rs2135371578
|
|
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser)
|
rs587781304
|
|
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser)
|
rs753903558
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)
|
|
|
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
|
|
|
NM_000051.4(ATM):c.2113T>C (p.Tyr705His)
|
rs757260641
|
|
NM_000051.4(ATM):c.2113T>G (p.Tyr705Asp)
|
|
|
NM_000051.4(ATM):c.2114A>G (p.Tyr705Cys)
|
|
|
NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)
|
|
|
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala)
|
rs536609092
|
|
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly)
|
rs2080318638
|
|
NM_000051.4(ATM):c.2124+5G>A
|
rs1565390942
|
|
NM_000051.4(ATM):c.2124+6A>G
|
rs550998406
|
|
NM_000051.4(ATM):c.2125-5T>G
|
rs2080471238
|
|
NM_000051.4(ATM):c.2125A>C (p.Ile709Leu)
|
rs864622259
|
|
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.2126T>A (p.Ile709Asn)
|
rs2135392028
|
|
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.2131_2136dup (p.Ser712_Glu713insAsnSer)
|
|
|
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)
|
|
|
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2135C>T (p.Ser712Leu)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala)
|
rs2080473704
|
|
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)
|
|
|
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser)
|
rs1555074846
|
|
NM_000051.4(ATM):c.2143C>G (p.Leu715Val)
|
rs758864982
|
|
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro)
|
rs1555074855
|
|
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg)
|
rs1555074855
|
|
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)
|
rs864622294
|
|
NM_000051.4(ATM):c.2147T>G (p.Val716Gly)
|
rs864622294
|
|
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.2155T>C (p.Ser719Pro)
|
|
|
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu)
|
rs2080475075
|
|
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>A (p.Thr72Lys)
|
rs876658893
|
|
NM_000051.4(ATM):c.215C>G (p.Thr72Arg)
|
rs876658893
|
|
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro)
|
rs2080475582
|
|
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg)
|
rs2080475582
|
|
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe)
|
rs1555074886
|
|
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
|
|
|
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.2174T>A (p.Val725Asp)
|
rs1565394761
|
|
NM_000051.4(ATM):c.2176C>G (p.Leu726Val)
|
rs775266056
|
|
NM_000051.4(ATM):c.2179G>A (p.Gly727Ser)
|
rs2080477463
|
|
NM_000051.4(ATM):c.217G>A (p.Glu73Lys)
|
rs1555055119
|
|
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp)
|
rs1446080226
|
|
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser)
|
rs1565394820
|
|
NM_000051.4(ATM):c.2185T>C (p.Tyr729His)
|
rs1190793955
|
|
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys)
|
rs1555074940
|
|
NM_000051.4(ATM):c.2192A>G (p.Tyr731Cys)
|
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
|
|
|
NM_000051.4(ATM):c.2196G>A (p.Met732Ile)
|
rs2135393803
|
|
NM_000051.4(ATM):c.2200G>A (p.Val734Ile)
|
rs1390127104
|
|
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr)
|
rs1565395012
|
|
NM_000051.4(ATM):c.2205A>G (p.Ile735Met)
|
rs2135394034
|
|
NM_000051.4(ATM):c.2206G>A (p.Ala736Thr)
|
rs2080480637
|
|
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)
|
|
|
NM_000051.4(ATM):c.2209G>A (p.Glu737Lys)
|
rs2135394119
|
|
NM_000051.4(ATM):c.220T>A (p.Cys74Ser)
|
rs1565346819
|
|
NM_000051.4(ATM):c.2210A>G (p.Glu737Gly)
|
|
|
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys)
|
rs1565395076
|
|
NM_000051.4(ATM):c.2217A>T (p.Glu739Asp)
|
|
|
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr)
|
rs786201866
|
|
NM_000051.4(ATM):c.2218G>C (p.Ala740Pro)
|
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.2222A>T (p.Tyr741Phe)
|
rs878853492
|
|
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr)
|
rs2135394428
|
|
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn)
|
rs2080482083
|
|
NM_000051.4(ATM):c.2232A>T (p.Glu744Asp)
|
rs2080482588
|
|
NM_000051.4(ATM):c.2243A>G (p.Lys748Arg)
|
|
|
NM_000051.4(ATM):c.2244A>T (p.Lys748Asn)
|
rs1591542559
|
|
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.2246C>G (p.Ala749Gly)
|
rs867443346
|
|
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu)
|
rs2080484145
|
|
NM_000051.4(ATM):c.2250+3A>G
|
rs2080484745
|
|
NM_000051.4(ATM):c.2250+5G>C
|
rs1555075047
|
|
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn)
|
rs1137887
|
|
NM_000051.4(ATM):c.2251-11A>C
|
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
NM_000051.4(ATM):c.2251-15T>A
|
rs1565396892
|
|
NM_000051.4(ATM):c.2251-1_2257dup
|
rs2080573042
|
|
NM_000051.4(ATM):c.2251-3T>C
|
rs752951518
|
|
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr)
|
rs1064793558
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro)
|
rs2135405669
|
|
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
|
|
|
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.2267C>A (p.Ala756Glu)
|
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
NM_000051.4(ATM):c.2275A>T (p.Ser759Cys)
|
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
|
|
|
NM_000051.4(ATM):c.2278A>C (p.Ile760Leu)
|
|
|
NM_000051.4(ATM):c.2278A>G (p.Ile760Val)
|
rs1555075672
|
|
NM_000051.4(ATM):c.2279T>C (p.Ile760Thr)
|
|
|
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.2282C>G (p.Thr761Ser)
|
|
|
NM_000051.4(ATM):c.2285T>C (p.Leu762Pro)
|
rs2080576437
|
|
NM_000051.4(ATM):c.228A>C (p.Arg76Ser)
|
rs1591451698
|
|
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)
|
|
|
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg)
|
rs2080576982
|
|
NM_000051.4(ATM):c.2294A>G (p.Asn765Ser)
|
|
|
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu)
|
rs748125666
|
|
NM_000051.4(ATM):c.2297A>G (p.Lys766Arg)
|
|
|
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)
|
|
|
NM_000051.4(ATM):c.229A>C (p.Ile77Leu)
|
rs1064796032
|
|
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser)
|
rs2080577809
|
|
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys)
|
rs1591546453
|
|
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly)
|
rs1377126475
|
|
NM_000051.4(ATM):c.2308G>A (p.Glu770Lys)
|
rs1555075721
|
|
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.2317A>C (p.Ile773Leu)
|
rs876659084
|
|
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.232G>A (p.Ala78Thr)
|
rs878853493
|
|
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys)
|
rs876660432
|
|
NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)
|
|
|
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp)
|
rs1555075751
|
|
NM_000051.4(ATM):c.2335A>G (p.Met779Val)
|
|
|
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del)
|
rs1555075763
|
|
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.2345T>C (p.Leu782Pro)
|
rs2135407647
|
|
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly)
|
rs1555075786
|
|
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile)
|
rs2135407791
|
|
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu)
|
rs587782128
|
|
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg)
|
rs1565397441
|
|
NM_000051.4(ATM):c.2356T>G (p.Cys786Gly)
|
|
|
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)
|
|
|
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp)
|
rs2135408030
|
|
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe)
|
rs2080584367
|
|
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly)
|
rs641252
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)
|
rs1591546766
|
|
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys)
|
rs2080585059
|
|
NM_000051.4(ATM):c.236A>G (p.Lys79Arg)
|
rs1591451757
|
|
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile)
|
rs2135408339
|
|
NM_000051.4(ATM):c.2376+4A>G
|
|
|
NM_000051.4(ATM):c.2376+5G>T
|
|
|
NM_000051.4(ATM):c.2376G>A (p.Lys792=)
|
rs754267376
|
|
NM_000051.4(ATM):c.2377-350A>G
|
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln)
|
rs587781583
|
|
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg)
|
rs2080692590
|
|
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg)
|
rs876658149
|
|
NM_000051.4(ATM):c.2381G>C (p.Ser794Thr)
|
|
|
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg)
|
rs1555076601
|
|
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
|
|
|
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.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)
|
|
|
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.2390A>C (p.Lys797Thr)
|
rs2135420825
|
|
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)
|
|
|
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr)
|
rs1591551217
|
|
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)
|
|
|
NM_000051.4(ATM):c.239C>T (p.Pro80Leu)
|
rs876659996
|
|
NM_000051.4(ATM):c.23T>C (p.Leu8Pro)
|
rs1555053885
|
|
NM_000051.4(ATM):c.23T>G (p.Leu8Arg)
|
rs1555053885
|
|
NM_000051.4(ATM):c.2401G>A (p.Gly801Ser)
|
rs1565399865
|
|
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp)
|
rs1591551289
|
|
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile)
|
rs2080695065
|
|
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu)
|
rs2080695332
|
|
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser)
|
rs751218526
|
|
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly)
|
rs780619951
|
|
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp)
|
rs1565399936
|
|
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile)
|
rs2080697096
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
NM_000051.4(ATM):c.2429A>T (p.Lys810Met)
|
rs2080698039
|
|
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)
|
rs2135034894
|
|
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.2436G>T (p.Met812Ile)
|
|
|
NM_000051.4(ATM):c.2438A>G (p.Asn813Ser)
|
|
|
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)
|
|
|
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn)
|
rs2135421927
|
|
NM_000051.4(ATM):c.2441A>T (p.Asp814Val)
|
rs1565400035
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
NM_000051.4(ATM):c.2444T>C (p.Ile815Thr)
|
rs2135422030
|
|
NM_000051.4(ATM):c.2444T>G (p.Ile815Ser)
|
|
|
NM_000051.4(ATM):c.2445T>G (p.Ile815Met)
|
rs2080699276
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly)
|
rs1351798568
|
|
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn)
|
rs587778067
|
|
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr)
|
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.2452A>C (p.Ile818Leu)
|
rs2080700458
|
|
NM_000051.4(ATM):c.2452A>G (p.Ile818Val)
|
rs2080700458
|
|
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.2456G>A (p.Cys819Tyr)
|
rs1591551588
|
|
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu)
|
rs2080701196
|
|
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
|
|
|
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr)
|
rs1555076748
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2466+10_2466+16del
|
|
|
NM_000051.4(ATM):c.2466+3A>C
|
|
|
NM_000051.4(ATM):c.2466+3A>G
|
|
|
NM_000051.4(ATM):c.2466+4A>C
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+4A>G
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+5G>A
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>T
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+6T>C
|
rs2135422532
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
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.2471C>T (p.Ser824Phe)
|
rs1555082060
|
|
NM_000051.4(ATM):c.2473T>G (p.Phe825Val)
|
rs2081300268
|
|
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.2483A>T (p.Lys828Met)
|
rs2081301026
|
|
NM_000051.4(ATM):c.2484G>T (p.Lys828Asn)
|
|
|
NM_000051.4(ATM):c.2485C>A (p.Pro829Thr)
|
rs1060501546
|
|
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala)
|
rs1060501546
|
|
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2486C>G (p.Pro829Arg)
|
|
|
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)
|
rs773582901
|
|
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)
|
|
|
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn)
|
rs1060501595
|
|
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr)
|
rs1060501595
|
|
NM_000051.4(ATM):c.2492A>T (p.Asp831Val)
|
rs587781352
|
|
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser)
|
rs2229022
|
|
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)
|
rs2229022
|
|
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>A (p.Gly833Arg)
|
rs876658804
|
|
NM_000051.4(ATM):c.24_26del (p.Leu9del)
|
|
|
NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)
|
|
|
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu)
|
rs879254208
|
|
NM_000051.4(ATM):c.2503G>T (p.Val835Leu)
|
rs757151992
|
|
NM_000051.4(ATM):c.2504T>A (p.Val835Glu)
|
rs765118015
|
|
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp)
|
rs2135506209
|
|
NM_000051.4(ATM):c.2510C>T (p.Ser837Leu)
|
|
|
NM_000051.4(ATM):c.2512A>G (p.Met838Val)
|
rs1555082132
|
|
NM_000051.4(ATM):c.2514G>T (p.Met838Ile)
|
rs2135506364
|
|
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)
|
rs1246807453
|
|
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala)
|
rs1591587459
|
|
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)
|
|
|
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)
|
rs1060501697
|
|
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.2522A>G (p.Asp841Gly)
|
rs587781812
|
|
NM_000051.4(ATM):c.2522A>T (p.Asp841Val)
|
|
|
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)
|
rs1555082164
|
|
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.2533A>C (p.Asn845His)
|
rs1591587679
|
|
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser)
|
rs1060501591
|
|
NM_000051.4(ATM):c.2536C>G (p.Leu846Val)
|
rs1555082186
|
|
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro)
|
rs2135507057
|
|
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.253T>C (p.Ser85Pro)
|
|
|
NM_000051.4(ATM):c.2540T>A (p.Met847Lys)
|
rs1382712243
|
|
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)
|
|
|
NM_000051.4(ATM):c.2541G>A (p.Met847Ile)
|
rs864622131
|
|
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln)
|
rs879254046
|
|
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly)
|
rs1060501555
|
|
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp)
|
rs1060501601
|
|
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.2549A>G (p.Glu850Gly)
|
rs876660456
|
|
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn)
|
rs1555082218
|
|
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
|
|
|
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>G (p.Gln852Arg)
|
rs1265258461
|
|
NM_000051.4(ATM):c.2556G>C (p.Gln852His)
|
rs2081307368
|
|
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.2560T>C (p.Ser854Pro)
|
rs1060501632
|
|
NM_000051.4(ATM):c.2563A>G (p.Met855Val)
|
rs749844591
|
|
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.2565G>T (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2566A>C (p.Asn856His)
|
rs774757757
|
|
NM_000051.4(ATM):c.2566A>G (p.Asn856Asp)
|
rs774757757
|
|
NM_000051.4(ATM):c.2566A>T (p.Asn856Tyr)
|
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
NM_000051.4(ATM):c.256A>G (p.Thr86Ala)
|
rs1565347018
|
|
NM_000051.4(ATM):c.2575A>G (p.Asn859Asp)
|
|
|
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.2581T>A (p.Tyr861Asn)
|
rs1565416692
|
|
NM_000051.4(ATM):c.2581T>C (p.Tyr861His)
|
rs1565416692
|
|
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys)
|
rs2081309790
|
|
NM_000051.4(ATM):c.2584C>G (p.Pro862Ala)
|
rs876660537
|
|
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser)
|
rs876660537
|
|
NM_000051.4(ATM):c.2585C>A (p.Pro862His)
|
rs1565416725
|
|
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn)
|
rs2135508489
|
|
NM_000051.4(ATM):c.2587G>C (p.Asp863His)
|
rs2135508489
|
|
NM_000051.4(ATM):c.2587_2589dup (p.Asp863dup)
|
rs2081310087
|
|
NM_000051.4(ATM):c.2588A>G (p.Asp863Gly)
|
|
|
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg)
|
rs764842086
|
|
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.2593A>C (p.Ser865Arg)
|
rs2081310612
|
|
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.2596G>A (p.Val866Ile)
|
rs2135508700
|
|
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
|
|
|
NM_000051.4(ATM):c.25C>T (p.Leu9Phe)
|
rs2078806539
|
|
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn)
|
rs1591588485
|
|
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.2608A>T (p.Asn870Tyr)
|
|
|
NM_000051.4(ATM):c.2609A>G (p.Asn870Ser)
|
rs2135508997
|
|
NM_000051.4(ATM):c.2610C>G (p.Asn870Lys)
|
rs587780618
|
|
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2611G>C (p.Glu871Gln)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly)
|
rs2081311812
|
|
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2618G>C (p.Gly873Ala)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2618G>T (p.Gly873Val)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly)
|
rs1555082338
|
|
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile)
|
rs2081312995
|
|
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg)
|
rs1591588785
|
|
NM_000051.4(ATM):c.2626C>G (p.Gln876Glu)
|
|
|
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)
|
rs1555082348
|
|
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly)
|
rs2081313542
|
|
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
|
|
|
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
|
|
|
NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)
|
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
|
NM_000051.4(ATM):c.2638+5A>G
|
rs2081314537
|
|
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)
|
|
|
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg)
|
rs2135509665
|
|
NM_000051.4(ATM):c.2638_2638+7dup
|
rs2081313995
|
|
NM_000051.4(ATM):c.2639-4_2639-3del
|
rs1555083075
|
|
NM_000051.4(ATM):c.2639-6T>G
|
|
|
NM_000051.4(ATM):c.2639-7T>G
|
rs912886321
|
|
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala)
|
rs2135522879
|
|
NM_000051.4(ATM):c.2648A>G (p.Asn883Ser)
|
rs2081380347
|
|
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys)
|
rs1555083093
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2653T>G (p.Leu885Val)
|
|
|
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.265T>C (p.Ser89Pro)
|
rs2135035804
|
|
NM_000051.4(ATM):c.2660A>C (p.Glu887Ala)
|
|
|
NM_000051.4(ATM):c.2662G>A (p.Glu888Lys)
|
|
|
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)
|
rs879254083
|
|
NM_000051.4(ATM):c.2668C>G (p.Leu890Val)
|
rs937133424
|
|
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro)
|
rs1411479824
|
|
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg)
|
rs1411479824
|
|
NM_000051.4(ATM):c.266C>T (p.Ser89Phe)
|
rs375605135
|
|
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu)
|
rs876660780
|
|
NM_000051.4(ATM):c.2675A>C (p.Lys892Thr)
|
|
|
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn)
|
rs1555083128
|
|
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg)
|
rs876659776
|
|
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)
|
rs1400094698
|
|
NM_000051.4(ATM):c.2681A>G (p.Asp894Gly)
|
rs113482790
|
|
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.2685_2699dup (p.Asp899_Met900insIleLeuPheLeuAsp)
|
|
|
NM_000051.4(ATM):c.2686C>A (p.Leu896Ile)
|
|
|
NM_000051.4(ATM):c.2686C>G (p.Leu896Val)
|
rs747696133
|
|
NM_000051.4(ATM):c.2686C>T (p.Leu896Phe)
|
rs747696133
|
|
NM_000051.4(ATM):c.268A>G (p.Arg90Gly)
|
rs868748140
|
|
NM_000051.4(ATM):c.2690T>A (p.Phe897Tyr)
|
|
|
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser)
|
rs876658373
|
|
NM_000051.4(ATM):c.2691C>G (p.Phe897Leu)
|
rs878853496
|
|
NM_000051.4(ATM):c.2692T>G (p.Leu898Val)
|
rs2135524133
|
|
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe)
|
rs774395596
|
|
NM_000051.4(ATM):c.2695G>C (p.Asp899His)
|
|
|
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.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.2704A>G (p.Lys902Glu)
|
rs2135524412
|
|
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)
|
|
|
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys)
|
rs1555083208
|
|
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.2719T>C (p.Cys907Arg)
|
rs2135524707
|
|
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)
|
|
|
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)
|
rs775371838
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser)
|
rs786203175
|
|
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile)
|
rs1555083259
|
|
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
|
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys)
|
rs764409952
|
|
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu)
|
rs764409952
|
|
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu)
|
rs730881353
|
|
NM_000051.4(ATM):c.2736G>C (p.Gln912His)
|
|
|
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala)
|
rs2135525084
|
|
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser)
|
rs2135525084
|
|
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn)
|
rs1266220962
|
|
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile)
|
rs1266220962
|
|
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp)
|
rs1591594250
|
|
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.2744C>G (p.Thr915Ser)
|
rs876660912
|
|
NM_000051.4(ATM):c.2746G>A (p.Val916Met)
|
rs2081388106
|
|
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)
|
|
|
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
|
|
|
NM_000051.4(ATM):c.274A>C (p.Lys92Gln)
|
|
|
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.2750C>T (p.Ser917Phe)
|
rs2081388548
|
|
NM_000051.4(ATM):c.2750_2752del (p.Ser917del)
|
|
|
NM_000051.4(ATM):c.2752T>C (p.Phe918Leu)
|
rs1060501549
|
|
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly)
|
rs1591594384
|
|
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr)
|
rs1555083326
|
|
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)
|
rs1565419701
|
|
NM_000051.4(ATM):c.2764G>C (p.Asp922His)
|
rs786201670
|
|
NM_000051.4(ATM):c.2765A>G (p.Asp922Gly)
|
rs1555083339
|
|
NM_000051.4(ATM):c.2765A>T (p.Asp922Val)
|
rs1555083339
|
|
NM_000051.4(ATM):c.2767A>C (p.Ile923Leu)
|
|
|
NM_000051.4(ATM):c.2767A>G (p.Ile923Val)
|
|
|
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn)
|
rs2081390566
|
|
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr)
|
rs2081390566
|
|
NM_000051.4(ATM):c.2769T>G (p.Ile923Met)
|
rs2081390749
|
|
NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup)
|
rs2078889184
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser)
|
rs1591594506
|
|
NM_000051.4(ATM):c.277A>G (p.Lys93Glu)
|
rs1555055234
|
|
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser)
|
rs2081392000
|
|
NM_000051.4(ATM):c.2784A>T (p.Leu928Phe)
|
|
|
NM_000051.4(ATM):c.2785A>G (p.Met929Val)
|
rs774067793
|
|
NM_000051.4(ATM):c.2786T>A (p.Met929Lys)
|
rs745737218
|
|
NM_000051.4(ATM):c.2786T>G (p.Met929Arg)
|
rs745737218
|
|
NM_000051.4(ATM):c.2788T>A (p.Leu930Ile)
|
rs2135526232
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly)
|
rs1060501623
|
|
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
|
|
|
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr)
|
rs56087610
|
|
NM_000051.4(ATM):c.279G>C (p.Lys93Asn)
|
rs368196317
|
|
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr)
|
rs1555083387
|
|
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.2804C>A (p.Thr935Lys)
|
rs3218708
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2806C>G (p.Leu936Val)
|
rs1422401186
|
|
NM_000051.4(ATM):c.2809G>C (p.Glu937Gln)
|
rs1565420027
|
|
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp)
|
rs1060501705
|
|
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)
|
rs1415567368
|
|
NM_000051.4(ATM):c.2812C>T (p.Pro938Ser)
|
rs1415567368
|
|
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu)
|
rs1183804155
|
|
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.281T>A (p.Met94Lys)
|
rs2078889761
|
|
NM_000051.4(ATM):c.2820A>C (p.Lys940Asn)
|
rs1477142492
|
|
NM_000051.4(ATM):c.2820A>T (p.Lys940Asn)
|
|
|
NM_000051.4(ATM):c.2827C>T (p.His943Tyr)
|
rs2135527318
|
|
NM_000051.4(ATM):c.2828A>C (p.His943Pro)
|
rs2081396482
|
|
NM_000051.4(ATM):c.2828A>G (p.His943Arg)
|
|
|
NM_000051.4(ATM):c.282G>A (p.Met94Ile)
|
rs2078889859
|
|
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+3del
|
|
|
NM_000051.4(ATM):c.2838+5G>A
|
rs1555083472
|
|
NM_000051.4(ATM):c.2838+5G>T
|
rs1555083472
|
|
NM_000051.4(ATM):c.2838+6T>C
|
rs781730571
|
|
NM_000051.4(ATM):c.2838+6T>G
|
|
|
NM_000051.4(ATM):c.2838G>T (p.Met946Ile)
|
rs1317505466
|
|
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGC
|
|
|
NM_000051.4(ATM):c.283C>G (p.Gln95Glu)
|
rs587781545
|
|
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys)
|
rs587779827
|
|
NM_000051.4(ATM):c.2842C>G (p.Leu948Val)
|
rs1591602173
|
|
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln)
|
rs2135547361
|
|
NM_000051.4(ATM):c.2843T>C (p.Leu948Pro)
|
rs2135547361
|
|
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)
|
|
|
NM_000051.4(ATM):c.2847G>A (p.Met949Ile)
|
rs1565424213
|
|
NM_000051.4(ATM):c.2847G>C (p.Met949Ile)
|
rs1565424213
|
|
NM_000051.4(ATM):c.2848C>G (p.Leu950Val)
|
rs763064034
|
|
NM_000051.4(ATM):c.2849T>A (p.Leu950His)
|
rs786203054
|
|
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro)
|
rs786203054
|
|
NM_000051.4(ATM):c.284A>G (p.Gln95Arg)
|
|
|
NM_000051.4(ATM):c.284A>T (p.Gln95Leu)
|
|
|
NM_000051.4(ATM):c.2852T>C (p.Leu951Ser)
|
|
|
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)
|
rs1591602248
|
|
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala)
|
rs2135547667
|
|
NM_000051.4(ATM):c.285G>C (p.Gln95His)
|
rs1316615402
|
|
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe)
|
rs2081549194
|
|
NM_000051.4(ATM):c.2861T>A (p.Leu954His)
|
rs1555084648
|
|
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)
|
|
|
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg)
|
rs1555084648
|
|
NM_000051.4(ATM):c.2864C>A (p.Pro955His)
|
rs1591602301
|
|
NM_000051.4(ATM):c.2870A>T (p.Glu957Val)
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser)
|
rs1591602381
|
|
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.2884C>T (p.Pro962Ser)
|
rs1377928885
|
|
NM_000051.4(ATM):c.2885C>G (p.Pro962Arg)
|
rs1591602470
|
|
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu)
|
rs1591602470
|
|
NM_000051.4(ATM):c.2893G>C (p.Asp965His)
|
rs1064793035
|
|
NM_000051.4(ATM):c.2896G>A (p.Val966Ile)
|
rs1060501598
|
|
NM_000051.4(ATM):c.2896G>T (p.Val966Phe)
|
|
|
NM_000051.4(ATM):c.2897T>C (p.Val966Ala)
|
|
|
NM_000051.4(ATM):c.289A>G (p.Ile97Val)
|
rs1565347206
|
|
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
|
|
|
NM_000051.4(ATM):c.2907_2909del (p.Leu970del)
|
rs2135548669
|
|
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro)
|
rs587782521
|
|
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser)
|
rs2135548838
|
|
NM_000051.4(ATM):c.2917C>G (p.Leu973Val)
|
|
|
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro)
|
rs1555084757
|
|
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
|
|
|
NM_000051.4(ATM):c.2921+17T>G
|
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2921+3A>C
|
rs2135549049
|
|
NM_000051.4(ATM):c.2921+4A>C
|
rs1565424660
|
|
NM_000051.4(ATM):c.2921+9T>G
|
|
|
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr)
|
rs538105098
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
NM_000051.4(ATM):c.2922-3C>T
|
rs750087017
|
|
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys)
|
rs765848319
|
|
NM_000051.4(ATM):c.2925T>G (p.Asn975Lys)
|
|
|
NM_000051.4(ATM):c.2926G>A (p.Val976Met)
|
rs1178628574
|
|
NM_000051.4(ATM):c.2926G>T (p.Val976Leu)
|
rs1178628574
|
|
NM_000051.4(ATM):c.292A>T (p.Ser98Cys)
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
|
|
|
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
|
|
|
NM_000051.4(ATM):c.2935T>G (p.Leu979Val)
|
|
|
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser)
|
rs1565425094
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly)
|
rs587780619
|
|
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro)
|
rs749471737
|
|
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu)
|
rs749471737
|
|
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn)
|
rs1060501560
|
|
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr)
|
rs1060501560
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg)
|
rs1239016428
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
NM_000051.4(ATM):c.2954A>C (p.Asp985Ala)
|
|
|
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.2957T>C (p.Val986Ala)
|
rs373225328
|
|
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly)
|
rs1305059653
|
|
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)
|
rs1555085052
|
|
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)
|
|
|
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu)
|
rs772327699
|
|
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala)
|
rs1565425329
|
|
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)
|
|
|
NM_000051.4(ATM):c.296G>A (p.Ser99Asn)
|
rs2078891183
|
|
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser)
|
rs1227701474
|
|
NM_000051.4(ATM):c.2974A>G (p.Asn992Asp)
|
|
|
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser)
|
rs1060501589
|
|
NM_000051.4(ATM):c.2976C>A (p.Asn992Lys)
|
rs1283172338
|
|
NM_000051.4(ATM):c.2976C>G (p.Asn992Lys)
|
rs1283172338
|
|
NM_000051.4(ATM):c.2977C>G (p.His993Asp)
|
rs2081569641
|
|
NM_000051.4(ATM):c.2977C>T (p.His993Tyr)
|
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
NM_000051.4(ATM):c.2978A>T (p.His993Leu)
|
rs878853498
|
|
NM_000051.4(ATM):c.297T>G (p.Ser99Arg)
|
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.2986C>T (p.His996Tyr)
|
rs2081570384
|
|
NM_000051.4(ATM):c.2987A>C (p.His996Pro)
|
rs876660034
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
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.2989G>C (p.Val997Leu)
|
rs1487902875
|
|
NM_000051.4(ATM):c.2991A>T (p.Val997=)
|
|
|
NM_000051.4(ATM):c.2993T>G (p.Val998Gly)
|
rs2135553024
|
|
NM_000051.4(ATM):c.2997A>C (p.Lys999Asn)
|
|
|
NM_000051.4(ATM):c.2998A>T (p.Asn1000Tyr)
|
rs2081571365
|
|
NM_000051.4(ATM):c.2999A>G (p.Asn1000Ser)
|
rs1555085128
|
|
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)
|
rs1555085128
|
|
NM_000051.4(ATM):c.29T>C (p.Ile10Thr)
|
rs2135004898
|
|
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys)
|
rs2135553183
|
|
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>G (p.Gln1003Glu)
|
rs1555085143
|
|
NM_000051.4(ATM):c.300G>C (p.Leu100Phe)
|
rs878853499
|
|
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.3016A>T (p.Met1006Leu)
|
|
|
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu)
|
rs1591604426
|
|
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)
|
rs2135553747
|
|
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys)
|
rs2135553767
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
|
|
|
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
|
|
|
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala)
|
rs959314809
|
|
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys)
|
rs1565425752
|
|
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr)
|
rs2135554187
|
|
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)
|
|
|
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)
|
|
|
NM_000051.4(ATM):c.3044A>C (p.Gln1015Pro)
|
rs587778070
|
|
NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg)
|
rs587778070
|
|
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.3050A>G (p.Gln1017Arg)
|
|
|
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)
|
rs863224560
|
|
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.305A>T (p.Lys102Ile)
|
rs1555055293
|
|
NM_000051.4(ATM):c.3060A>G (p.Thr1020=)
|
rs1591604737
|
|
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val)
|
rs786202470
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg)
|
rs730882129
|
|
NM_000051.4(ATM):c.306A>G (p.Lys102=)
|
rs1060501626
|
|
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr)
|
rs1397754737
|
|
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro)
|
rs1397754737
|
|
NM_000051.4(ATM):c.3070G>T (p.Ala1024Ser)
|
|
|
NM_000051.4(ATM):c.3073T>C (p.Phe1025Leu)
|
rs2135554935
|
|
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys)
|
rs1555085266
|
|
NM_000051.4(ATM):c.3075T>G (p.Phe1025Leu)
|
rs1591604883
|
|
NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg)
|
rs2135555027
|
|
NM_000051.4(ATM):c.3077+12C>A
|
|
|
NM_000051.4(ATM):c.3077+4G>C
|
rs201222237
|
|
NM_000051.4(ATM):c.3077+4G>T
|
rs201222237
|
|
NM_000051.4(ATM):c.3077+6T>A
|
rs1565426002
|
|
NM_000051.4(ATM):c.3077+6T>C
|
|
|
NM_000051.4(ATM):c.3077+9A>G
|
|
|
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser)
|
rs587782103
|
|
NM_000051.4(ATM):c.3078-10T>G
|
rs2135564722
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
NM_000051.4(ATM):c.3078-5T>G
|
rs1565427457
|
|
NM_000051.4(ATM):c.3078-9T>G
|
rs2081637337
|
|
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>A (p.His1027Gln)
|
rs864622587
|
|
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val)
|
rs1263930458
|
|
NM_000051.4(ATM):c.3083T>A (p.Leu1028Gln)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3083T>G (p.Leu1028Arg)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu)
|
rs863224561
|
|
NM_000051.4(ATM):c.3089A>G (p.Lys1030Arg)
|
rs2081639453
|
|
NM_000051.4(ATM):c.308A>C (p.Tyr103Ser)
|
|
|
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.3095G>A (p.Arg1032Lys)
|
rs2081639925
|
|
NM_000051.4(ATM):c.3100T>A (p.Tyr1034Asn)
|
rs975639638
|
|
NM_000051.4(ATM):c.3100T>C (p.Tyr1034His)
|
rs975639638
|
|
NM_000051.4(ATM):c.3100_3114dup (p.Tyr1034_Val1038dup)
|
rs2135565534
|
|
NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys)
|
|
|
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met)
|
rs1565427678
|
|
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
|
|
|
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro)
|
rs2135565790
|
|
NM_000051.4(ATM):c.310T>C (p.Phe104Leu)
|
rs1555055306
|
|
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)
|
|
|
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>G (p.Val1038Gly)
|
|
|
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)
|
|
|
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.3124C>G (p.Leu1042Val)
|
rs1177614796
|
|
NM_000051.4(ATM):c.3127G>A (p.Val1043Ile)
|
|
|
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser)
|
rs1565427876
|
|
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.3137T>G (p.Leu1046Arg)
|
|
|
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)
|
rs587778071
|
|
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile)
|
rs1565427949
|
|
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser)
|
rs1373504805
|
|
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
|
|
|
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro)
|
rs1555085890
|
|
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)
|
rs1555085890
|
|
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)
|
|
|
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+3G>A
|
rs1565428067
|
|
NM_000051.4(ATM):c.3153+3G>T
|
rs1565428067
|
|
NM_000051.4(ATM):c.3153+4A>G
|
rs1060501620
|
|
NM_000051.4(ATM):c.3153+4A>T
|
rs1060501620
|
|
NM_000051.4(ATM):c.3153+5G>A
|
rs1591608756
|
|
NM_000051.4(ATM):c.3153+5G>T
|
|
|
NM_000051.4(ATM):c.3153+6T>C
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro)
|
rs1064793036
|
|
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly)
|
rs876660350
|
|
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)
|
|
|
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val)
|
rs2081657910
|
|
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)
|
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)
|
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
NM_000051.4(ATM):c.3175G>T (p.Ala1059Ser)
|
rs370282831
|
|
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val)
|
rs2081660483
|
|
NM_000051.4(ATM):c.317A>G (p.Lys106Arg)
|
rs878853501
|
|
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val)
|
rs1565428509
|
|
NM_000051.4(ATM):c.3181C>T (p.Leu1061Phe)
|
rs1565428509
|
|
NM_000051.4(ATM):c.3185A>C (p.Asn1062Thr)
|
|
|
NM_000051.4(ATM):c.3186T>G (p.Asn1062Lys)
|
|
|
NM_000051.4(ATM):c.3187G>A (p.Val1063Ile)
|
rs2135570586
|
|
NM_000051.4(ATM):c.3188T>C (p.Val1063Ala)
|
rs2081661362
|
|
NM_000051.4(ATM):c.318A>C (p.Lys106Asn)
|
rs1555055319
|
|
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>C (p.Lys1066Thr)
|
rs926564671
|
|
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)
|
rs926564671
|
|
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)
|
rs766342338
|
|
NM_000051.4(ATM):c.3200A>G (p.Asp1067Gly)
|
rs1591609662
|
|
NM_000051.4(ATM):c.3200A>T (p.Asp1067Val)
|
|
|
NM_000051.4(ATM):c.3201C>A (p.Asp1067Glu)
|
rs1188674152
|
|
NM_000051.4(ATM):c.3202T>A (p.Phe1068Ile)
|
rs1255200743
|
|
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu)
|
rs1255200743
|
|
NM_000051.4(ATM):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)
|
|
|
NM_000051.4(ATM):c.3206C>T (p.Pro1069Leu)
|
|
|
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)
|
rs587780620
|
|
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu)
|
rs2135571268
|
|
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile)
|
rs2135571488
|
|
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile)
|
rs756568555
|
|
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu)
|
rs1555086111
|
|
NM_000051.4(ATM):c.3232C>G (p.Leu1078Val)
|
|
|
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.3238G>A (p.Asp1080Asn)
|
|
|
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del)
|
rs2135572079
|
|
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly)
|
rs757617016
|
|
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val)
|
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.3241A>C (p.Asn1081His)
|
rs2081666605
|
|
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp)
|
rs2081666605
|
|
NM_000051.4(ATM):c.3244C>G (p.His1082Asp)
|
rs1302626569
|
|
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)
|
|
|
NM_000051.4(ATM):c.3245A>G (p.His1082Arg)
|
rs1009749513
|
|
NM_000051.4(ATM):c.3248A>T (p.His1083Leu)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3249C>G (p.His1083Gln)
|
rs1246816005
|
|
NM_000051.4(ATM):c.3251A>G (p.Gln1084Arg)
|
rs2081668405
|
|
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile)
|
rs1555086177
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
NM_000051.4(ATM):c.3256C>G (p.Arg1086Gly)
|
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
NM_000051.4(ATM):c.3257G>T (p.Arg1086Leu)
|
rs769857066
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
|
|
|
NM_000051.4(ATM):c.325A>G (p.Asn109Asp)
|
rs2135038523
|
|
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.3265G>C (p.Ala1089Pro)
|
rs730881358
|
|
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val)
|
rs2135572925
|
|
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.3271G>A (p.Glu1091Lys)
|
rs2135573046
|
|
NM_000051.4(ATM):c.3273_3284+42dup
|
rs2081670756
|
|
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu)
|
rs774197372
|
|
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val)
|
rs876659667
|
|
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser)
|
rs2135573226
|
|
NM_000051.4(ATM):c.327C>A (p.Asn109Lys)
|
|
|
NM_000051.4(ATM):c.3280A>C (p.Asn1094His)
|
rs1591610333
|
|
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp)
|
rs1591610333
|
|
NM_000051.4(ATM):c.3284+3A>G
|
rs1591610398
|
|
NM_000051.4(ATM):c.3284+4A>G
|
rs1591610423
|
|
NM_000051.4(ATM):c.3284+4del
|
rs761592860
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.3285-2896_3285-2893del
|
|
|
NM_000051.4(ATM):c.3285-8G>C
|
rs1469259085
|
|
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
|
|
|
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser)
|
rs2082114508
|
|
NM_000051.4(ATM):c.328A>G (p.Arg110Gly)
|
rs2078893781
|
|
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu)
|
rs773964990
|
|
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.3296A>T (p.Asp1099Val)
|
rs587778072
|
|
NM_000051.4(ATM):c.3297C>G (p.Asp1099Glu)
|
|
|
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)
|
rs2082115524
|
|
NM_000051.4(ATM):c.3298A>G (p.Thr1100Ala)
|
rs2082115524
|
|
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
|
|
|
NM_000051.4(ATM):c.3302A>C (p.Lys1101Thr)
|
|
|
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg)
|
rs147557621
|
|
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.3308A>T (p.Asp1103Val)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu)
|
rs764102178
|
|
NM_000051.4(ATM):c.330A>C (p.Arg110Ser)
|
rs1555055350
|
|
NM_000051.4(ATM):c.331+3A>C
|
rs2078894221
|
|
NM_000051.4(ATM):c.331+3A>T
|
|
|
NM_000051.4(ATM):c.331+4A>G
|
|
|
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys)
|
rs1555090126
|
|
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr)
|
rs141999815
|
|
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)
|
|
|
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)
|
|
|
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)
|
|
|
NM_000051.4(ATM):c.332-1009A>T
|
|
|
NM_000051.4(ATM):c.332-4A>G
|
|
|
NM_000051.4(ATM):c.332-8T>A
|
rs2079233073
|
|
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe)
|
rs2135643264
|
|
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro)
|
rs2082117640
|
|
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)
|
rs1479434069
|
|
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.3335C>G (p.Pro1112Arg)
|
rs1064795850
|
|
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met)
|
rs1022672642
|
|
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser)
|
rs1591632166
|
|
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)
|
rs752339681
|
|
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro)
|
rs1555090213
|
|
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)
|
|
|
NM_000051.4(ATM):c.3349_3384del (p.Gln1117_Gln1128del)
|
rs2135643982
|
|
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg)
|
rs755828033
|
|
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.335C>A (p.Ala112Glu)
|
rs1591474358
|
|
NM_000051.4(ATM):c.335C>T (p.Ala112Val)
|
rs1591474358
|
|
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu)
|
rs2082121277
|
|
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly)
|
rs876660607
|
|
NM_000051.4(ATM):c.3367G>A (p.Ala1123Thr)
|
rs1060501581
|
|
NM_000051.4(ATM):c.3367G>C (p.Ala1123Pro)
|
rs1060501581
|
|
NM_000051.4(ATM):c.3368C>A (p.Ala1123Glu)
|
rs2135644677
|
|
NM_000051.4(ATM):c.3368C>T (p.Ala1123Val)
|
|
|
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His)
|
rs2082121841
|
|
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
|
|
|
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys)
|
rs876660498
|
|
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val)
|
rs775277598
|
|
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu)
|
rs1310591343
|
|
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp)
|
rs1555090340
|
|
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)
|
rs876659825
|
|
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys)
|
rs876658463
|
|
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala)
|
rs1060501544
|
|
NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)
|
|
|
NM_000051.4(ATM):c.338C>T (p.Pro113Leu)
|
rs876658324
|
|
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr)
|
rs2082123790
|
|
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.3395G>A (p.Arg1132Lys)
|
rs2135645575
|
|
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)
|
|
|
NM_000051.4(ATM):c.3398A>C (p.Glu1133Ala)
|
|
|
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly)
|
rs1565439583
|
|
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val)
|
rs1565439583
|
|
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>C (p.Met1134Leu)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3402+17T>G
|
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
NM_000051.4(ATM):c.3403-5_3403-4del
|
|
|
NM_000051.4(ATM):c.3403-6T>C
|
rs2082201418
|
|
NM_000051.4(ATM):c.3403-6T>G
|
rs2082201418
|
|
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr)
|
rs2082202102
|
|
NM_000051.4(ATM):c.3408T>G (p.His1136Gln)
|
rs1565441369
|
|
NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)
|
|
|
NM_000051.4(ATM):c.340A>G (p.Arg114Gly)
|
rs927409082
|
|
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>C (p.Glu1139Asp)
|
rs879254069
|
|
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
|
|
|
NM_000051.4(ATM):c.3421C>G (p.Pro1141Ala)
|
|
|
NM_000051.4(ATM):c.3424G>A (p.Glu1142Lys)
|
rs2082203589
|
|
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.342G>C (p.Arg114Ser)
|
rs1555059036
|
|
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser)
|
rs879253949
|
|
NM_000051.4(ATM):c.3433G>T (p.Asp1145Tyr)
|
|
|
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3434A>G (p.Asp1145Gly)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3434A>T (p.Asp1145Val)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys)
|
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.3445A>G (p.Asn1149Asp)
|
|
|
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)
|
|
|
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys)
|
rs555219189
|
|
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)
|
|
|
NM_000051.4(ATM):c.3454T>C (p.Ser1152Pro)
|
rs1176188506
|
|
NM_000051.4(ATM):c.3454T>G (p.Ser1152Ala)
|
rs1176188506
|
|
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr)
|
rs775045299
|
|
NM_000051.4(ATM):c.3455C>G (p.Ser1152Cys)
|
rs775045299
|
|
NM_000051.4(ATM):c.3457G>A (p.Val1153Ile)
|
rs863224562
|
|
NM_000051.4(ATM):c.3457G>C (p.Val1153Leu)
|
rs863224562
|
|
NM_000051.4(ATM):c.3457G>T (p.Val1153Phe)
|
rs863224562
|
|
NM_000051.4(ATM):c.3458T>C (p.Val1153Ala)
|
rs12788418
|
|
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser)
|
rs2135666960
|
|
NM_000051.4(ATM):c.3469T>G (p.Leu1157Val)
|
rs2082206791
|
|
NM_000051.4(ATM):c.346A>C (p.Lys116Gln)
|
|
|
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)
|
rs2135667225
|
|
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)
|
|
|
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser)
|
rs2135667356
|
|
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
|
|
|
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly)
|
rs12788427
|
|
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile)
|
rs1565441792
|
|
NM_000051.4(ATM):c.3481G>C (p.Val1161Leu)
|
rs1565441792
|
|
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala)
|
rs12788429
|
|
NM_000051.4(ATM):c.3490T>G (p.Cys1164Gly)
|
rs2135667927
|
|
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr)
|
rs2082208412
|
|
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>A (p.Ser1165Asn)
|
|
|
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.3496C>T (p.Pro1166Ser)
|
rs867360777
|
|
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
|
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
|
NM_000051.4(ATM):c.34T>C (p.Cys12Arg)
|
rs1060501597
|
|
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp)
|
rs1555091291
|
|
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr)
|
rs1591636761
|
|
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)
|
|
|
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr)
|
rs1555059066
|
|
NM_000051.4(ATM):c.350G>T (p.Cys117Phe)
|
rs1555059066
|
|
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu)
|
rs876659067
|
|
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
|
|
|
NM_000051.4(ATM):c.3513G>C (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3513G>T (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)
|
rs2082210652
|
|
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val)
|
rs141460670
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr)
|
rs1416574870
|
|
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro)
|
rs587782762
|
|
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.3532A>C (p.Lys1178Gln)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg)
|
rs1565442144
|
|
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro)
|
rs2135669484
|
|
NM_000051.4(ATM):c.3538G>A (p.Val1180Met)
|
rs1060501531
|
|
NM_000051.4(ATM):c.353A>G (p.Gln118Arg)
|
rs1555059070
|
|
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
|
|
|
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp)
|
rs773290999
|
|
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu)
|
rs2135669947
|
|
NM_000051.4(ATM):c.3552A>T (p.Gly1184=)
|
|
|
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val)
|
rs2082213706
|
|
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.3562C>T (p.His1188Tyr)
|
rs2082213882
|
|
NM_000051.4(ATM):c.3563A>C (p.His1188Pro)
|
rs12786960
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)
|
rs1555091431
|
|
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)
|
rs1060501708
|
|
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
|
|
|
NM_000051.4(ATM):c.3575A>C (p.Lys1192Thr)
|
|
|
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg)
|
rs1555091451
|
|
NM_000051.4(ATM):c.3576+3A>G
|
rs2082214908
|
|
NM_000051.4(ATM):c.3576+4T>C
|
rs1591637164
|
|
NM_000051.4(ATM):c.3577-3C>A
|
rs876659700
|
|
NM_000051.4(ATM):c.3577-3C>G
|
rs876659700
|
|
NM_000051.4(ATM):c.3577-7C>A
|
rs558667657
|
|
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala)
|
rs1591640918
|
|
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser)
|
rs2082294481
|
|
NM_000051.4(ATM):c.3583G>C (p.Glu1195Gln)
|
rs2135686630
|
|
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly)
|
rs1167713135
|
|
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu)
|
rs2135686751
|
|
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)
|
|
|
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala)
|
rs1555092259
|
|
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro)
|
rs1555092260
|
|
NM_000051.4(ATM):c.3593C>G (p.Ser1198Cys)
|
|
|
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe)
|
rs2135686922
|
|
NM_000051.4(ATM):c.3596A>C (p.Glu1199Ala)
|
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
NM_000051.4(ATM):c.3598A>G (p.Thr1200Ala)
|
rs772741084
|
|
NM_000051.4(ATM):c.3599C>A (p.Thr1200Asn)
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.3601T>G (p.Phe1201Val)
|
rs576884305
|
|
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser)
|
rs1565444496
|
|
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)
|
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly)
|
rs2135687439
|
|
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser)
|
rs1555092317
|
|
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe)
|
rs786201151
|
|
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln)
|
rs772724024
|
|
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly)
|
rs1555092330
|
|
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
|
|
|
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly)
|
rs2135687915
|
|
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
|
|
|
NM_000051.4(ATM):c.3625T>G (p.Phe1209Val)
|
|
|
NM_000051.4(ATM):c.3628A>C (p.Met1210Leu)
|
|
|
NM_000051.4(ATM):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr)
|
rs192572042
|
|
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr)
|
rs745467552
|
|
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
|
|
|
NM_000051.4(ATM):c.3639T>G (p.His1213Gln)
|
rs142766756
|
|
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val)
|
rs2082299514
|
|
NM_000051.4(ATM):c.3643G>C (p.Asp1215His)
|
rs1366216756
|
|
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)
|
|
|
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys)
|
rs1565444784
|
|
NM_000051.4(ATM):c.364A>G (p.Asn122Asp)
|
rs2079236749
|
|
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.3652G>T (p.Val1218Phe)
|
rs2082300484
|
|
NM_000051.4(ATM):c.3657G>C (p.Leu1219Phe)
|
rs901820882
|
|
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.3659A>G (p.Glu1220Gly)
|
|
|
NM_000051.4(ATM):c.365A>C (p.Asn122Thr)
|
rs1060501596
|
|
NM_000051.4(ATM):c.365A>G (p.Asn122Ser)
|
rs1060501596
|
|
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg)
|
rs1565444832
|
|
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)
|
|
|
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys)
|
rs864622490
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg)
|
rs863224563
|
|
NM_000051.4(ATM):c.3667A>T (p.Asn1223Tyr)
|
rs1436681116
|
|
NM_000051.4(ATM):c.3668A>G (p.Asn1223Ser)
|
rs2082301149
|
|
NM_000051.4(ATM):c.3668A>T (p.Asn1223Ile)
|
|
|
NM_000051.4(ATM):c.3669T>A (p.Asn1223Lys)
|
rs1591641397
|
|
NM_000051.4(ATM):c.3674A>G (p.Gln1225Arg)
|
rs2135689501
|
|
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis)
|
rs1064795822
|
|
NM_000051.4(ATM):c.3676G>A (p.Asp1226Asn)
|
|
|
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.3680C>G (p.Thr1227Ser)
|
|
|
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.3688A>G (p.Asn1230Asp)
|
rs2082303886
|
|
NM_000051.4(ATM):c.3688A>T (p.Asn1230Tyr)
|
rs2082303886
|
|
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile)
|
rs587782195
|
|
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)
|
rs759673348
|
|
NM_000051.4(ATM):c.3690C>G (p.Asn1230Lys)
|
rs1555092475
|
|
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.3695CTT[1] (p.Ser1233del)
|
rs1555092499
|
|
NM_000051.4(ATM):c.3698C>T (p.Ser1233Phe)
|
|
|
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.3704C>T (p.Pro1235Leu)
|
|
|
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser)
|
rs2082306350
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)
|
rs786202897
|
|
NM_000051.4(ATM):c.3713T>C (p.Leu1238Ser)
|
|
|
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
|
|
|
NM_000051.4(ATM):c.371T>C (p.Ile124Thr)
|
rs1555059132
|
|
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.3724A>G (p.Thr1242Ala)
|
rs1591641743
|
|
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys)
|
rs1266811647
|
|
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg)
|
rs1266811647
|
|
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile)
|
rs730881363
|
|
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val)
|
rs2135690906
|
|
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr)
|
rs1159658224
|
|
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile)
|
rs886506379
|
|
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser)
|
rs1064793581
|
|
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
|
|
|
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His)
|
rs1180341161
|
|
NM_000051.4(ATM):c.3743A>C (p.Tyr1248Ser)
|
rs766226370
|
|
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe)
|
rs766226370
|
|
NM_000051.4(ATM):c.3746+3A>C
|
|
|
NM_000051.4(ATM):c.3746+3A>G
|
rs2135691310
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+4A>G
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)
|
|
|
NM_000051.4(ATM):c.3746G>C (p.Arg1249Thr)
|
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
NM_000051.4(ATM):c.3747-7T>G
|
rs1057523136
|
|
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
|
|
|
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro)
|
rs1555093268
|
|
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr)
|
rs1555093273
|
|
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)
|
|
|
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.3755A>C (p.Tyr1252Ser)
|
|
|
NM_000051.4(ATM):c.3755A>G (p.Tyr1252Cys)
|
|
|
NM_000051.4(ATM):c.3755A>T (p.Tyr1252Phe)
|
rs2135704378
|
|
NM_000051.4(ATM):c.3758A>C (p.Lys1253Thr)
|
|
|
NM_000051.4(ATM):c.375G>A (p.Met125Ile)
|
rs1591474725
|
|
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
|
|
|
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile)
|
rs753717865
|
|
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe)
|
rs1030517820
|
|
NM_000051.4(ATM):c.3767T>G (p.Ile1256Ser)
|
|
|
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala)
|
rs1565447002
|
|
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr)
|
rs2079238248
|
|
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)
|
|
|
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu)
|
rs758405529
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3772C>T (p.His1258Tyr)
|
rs587782741
|
|
NM_000051.4(ATM):c.3773A>G (p.His1258Arg)
|
rs1555093334
|
|
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)
|
rs587782035
|
|
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)
|
|
|
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
|
|
|
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>C (p.Arg1262Thr)
|
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.3788G>T (p.Ser1263Ile)
|
rs2082376058
|
|
NM_000051.4(ATM):c.3790C>A (p.His1264Asn)
|
rs2135705273
|
|
NM_000051.4(ATM):c.3790C>T (p.His1264Tyr)
|
|
|
NM_000051.4(ATM):c.3791A>C (p.His1264Pro)
|
|
|
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val)
|
rs371526361
|
|
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser)
|
rs1565447114
|
|
NM_000051.4(ATM):c.3795T>G (p.Phe1265Leu)
|
|
|
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn)
|
rs2135705400
|
|
NM_000051.4(ATM):c.3796G>C (p.Asp1266His)
|
rs2135705400
|
|
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.3803T>C (p.Val1268Ala)
|
rs1269513731
|
|
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.3814G>A (p.Ala1272Thr)
|
rs1555093420
|
|
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp)
|
rs2082377659
|
|
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu)
|
|
|
NM_000051.4(ATM):c.3821A>G (p.Gln1274Arg)
|
rs1060501624
|
|
NM_000051.4(ATM):c.3821_3822delinsTA (p.Gln1274Leu)
|
rs1591645650
|
|
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro)
|
rs770183693
|
|
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.382G>C (p.Val128Leu)
|
rs587779835
|
|
NM_000051.4(ATM):c.382G>T (p.Val128Leu)
|
|
|
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly)
|
rs1555093463
|
|
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.3835T>C (p.Trp1279Arg)
|
|
|
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg)
|
rs2082379727
|
|
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.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val)
|
rs876660568
|
|
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala)
|
rs879175186
|
|
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg)
|
rs1200767902
|
|
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)
|
|
|
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly)
|
rs2082381245
|
|
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser)
|
rs876660770
|
|
NM_000051.4(ATM):c.385A>C (p.Lys129Gln)
|
rs2079239070
|
|
NM_000051.4(ATM):c.3863C>T (p.Pro1288Leu)
|
rs2135707043
|
|
NM_000051.4(ATM):c.3865A>C (p.Lys1289Gln)
|
|
|
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg)
|
rs876660633
|
|
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
|
|
|
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe)
|
rs2082381917
|
|
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)
|
|
|
NM_000051.4(ATM):c.386A>G (p.Lys129Arg)
|
rs2135122598
|
|
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val)
|
rs2135707210
|
|
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro)
|
rs1555093536
|
|
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.3877A>C (p.Asn1293His)
|
rs2135707323
|
|
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)
|
rs2082382534
|
|
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup)
|
rs1591645970
|
|
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val)
|
rs1478504213
|
|
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val)
|
rs1388457632
|
|
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro)
|
rs2082382999
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys)
|
rs1591646047
|
|
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val)
|
rs786203287
|
|
NM_000051.4(ATM):c.3898T>A (p.Tyr1300Asn)
|
|
|
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His)
|
rs1591646097
|
|
NM_000051.4(ATM):c.3899A>T (p.Tyr1300Phe)
|
rs183263185
|
|
NM_000051.4(ATM):c.38G>T (p.Arg13Leu)
|
rs778201041
|
|
NM_000051.4(ATM):c.3903G>C (p.Glu1301Asp)
|
rs2082384273
|
|
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)
|
rs2135707999
|
|
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val)
|
rs761673223
|
|
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala)
|
rs1060501662
|
|
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
|
|
|
NM_000051.4(ATM):c.390T>A (p.Asp130Glu)
|
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.3917G>A (p.Ser1306Asn)
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu)
|
rs2082385270
|
|
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.3929A>G (p.Gln1310Arg)
|
|
|
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
|
|
|
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro)
|
rs2135708785
|
|
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)
|
|
|
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly)
|
rs864622137
|
|
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.3941C>T (p.Thr1314Ile)
|
rs751678973
|
|
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser)
|
rs1064794757
|
|
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala)
|
rs1555093708
|
|
NM_000051.4(ATM):c.3947C>T (p.Thr1316Ile)
|
rs2135709186
|
|
NM_000051.4(ATM):c.3949A>C (p.Lys1317Gln)
|
rs2082387020
|
|
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)
|
rs786203851
|
|
NM_000051.4(ATM):c.3958_3960del (p.Asp1320del)
|
|
|
NM_000051.4(ATM):c.3959A>G (p.Asp1320Gly)
|
|
|
NM_000051.4(ATM):c.3959A>T (p.Asp1320Val)
|
rs2135709499
|
|
NM_000051.4(ATM):c.395C>A (p.Ser132Tyr)
|
rs750969764
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr)
|
rs928038643
|
|
NM_000051.4(ATM):c.3963_3964delinsAA (p.Met1321_Leu1322delinsIleIle)
|
|
|
NM_000051.4(ATM):c.3964C>G (p.Leu1322Val)
|
|
|
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)
|
rs144535256
|
|
NM_000051.4(ATM):c.3965T>A (p.Leu1322His)
|
rs786203306
|
|
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg)
|
rs786203306
|
|
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg)
|
rs1295515377
|
|
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg)
|
rs2082388757
|
|
NM_000051.4(ATM):c.3971G>A (p.Ser1324Asn)
|
|
|
NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)
|
|
|
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser)
|
rs878853507
|
|
NM_000051.4(ATM):c.397A>G (p.Asn133Asp)
|
rs1565356855
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.3984G>C (p.Leu1328Phe)
|
|
|
NM_000051.4(ATM):c.3989A>G (p.Lys1330Arg)
|
rs1565447970
|
|
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.3993+16T>G
|
rs2135710569
|
|
NM_000051.4(ATM):c.3993+19T>G
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
NM_000051.4(ATM):c.3993+5G>A
|
rs3092842
|
|
NM_000051.4(ATM):c.3993+6G>A
|
rs878853508
|
|
NM_000051.4(ATM):c.3993G>A (p.Gln1331=)
|
rs863224566
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-3C>A
|
rs1060501681
|
|
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu)
|
rs1064793534
|
|
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met)
|
rs1180449859
|
|
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn)
|
rs1591655512
|
|
NM_000051.4(ATM):c.3998A>G (p.Asp1333Gly)
|
|
|
NM_000051.4(ATM):c.399T>A (p.Asn133Lys)
|
rs1555059218
|
|
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
|
|
|
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val)
|
rs863224568
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
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.401G>T (p.Gly134Val)
|
rs771166271
|
|
NM_000051.4(ATM):c.4020A>C (p.Leu1340Phe)
|
|
|
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu)
|
rs1565452575
|
|
NM_000051.4(ATM):c.4033G>A (p.Val1345Met)
|
rs1216931701
|
|
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)
|
|
|
NM_000051.4(ATM):c.403G>A (p.Ala135Thr)
|
rs1272089657
|
|
NM_000051.4(ATM):c.403G>T (p.Ala135Ser)
|
rs1272089657
|
|
NM_000051.4(ATM):c.4045A>G (p.Met1349Val)
|
rs2082561329
|
|
NM_000051.4(ATM):c.4046T>A (p.Met1349Lys)
|
rs2082561438
|
|
NM_000051.4(ATM):c.4047G>A (p.Met1349Ile)
|
rs1555095931
|
|
NM_000051.4(ATM):c.4047G>T (p.Met1349Ile)
|
rs1555095931
|
|
NM_000051.4(ATM):c.404C>G (p.Ala135Gly)
|
rs1555059254
|
|
NM_000051.4(ATM):c.404C>T (p.Ala135Val)
|
rs1555059254
|
|
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.4057G>A (p.Glu1353Lys)
|
rs2135736601
|
|
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly)
|
rs917721053
|
|
NM_000051.4(ATM):c.4060C>T (p.Pro1354Ser)
|
|
|
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln)
|
rs1565452743
|
|
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu)
|
rs1591655990
|
|
NM_000051.4(ATM):c.4064C>G (p.Ala1355Gly)
|
|
|
NM_000051.4(ATM):c.4064C>T (p.Ala1355Val)
|
rs1591655990
|
|
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr)
|
rs2135736874
|
|
NM_000051.4(ATM):c.4069T>A (p.Ser1357Thr)
|
rs2082563881
|
|
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.4070C>G (p.Ser1357Cys)
|
rs730881390
|
|
NM_000051.4(ATM):c.4072A>T (p.Ser1358Cys)
|
|
|
NM_000051.4(ATM):c.4073G>C (p.Ser1358Thr)
|
rs2135737014
|
|
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.4078A>G (p.Ser1360Gly)
|
rs761123780
|
|
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys)
|
rs761123780
|
|
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg)
|
rs2135737207
|
|
NM_000051.4(ATM):c.4083G>T (p.Gln1361His)
|
rs863224570
|
|
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly)
|
rs1565452907
|
|
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
|
|
|
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala)
|
rs587779837
|
|
NM_000051.4(ATM):c.4088C>G (p.Thr1363Ser)
|
rs1555096040
|
|
NM_000051.4(ATM):c.4091A>C (p.Asp1364Ala)
|
rs751169467
|
|
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)
|
rs876660956
|
|
NM_000051.4(ATM):c.4093C>A (p.Leu1365Ile)
|
|
|
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe)
|
rs1423720712
|
|
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
|
|
|
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp)
|
rs786204177
|
|
NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)
|
|
|
NM_000051.4(ATM):c.4101C>G (p.Asp1367Glu)
|
|
|
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu)
|
rs569614591
|
|
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTACATTTTA
|
rs2135738255
|
|
NM_000051.4(ATM):c.4109+16A>G
|
rs2135738603
|
|
NM_000051.4(ATM):c.4109+3A>G
|
rs1388807238
|
|
NM_000051.4(ATM):c.4109+4T>G
|
rs754706599
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.4109+6T>G
|
rs368606937
|
|
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe)
|
rs547082881
|
|
NM_000051.4(ATM):c.4110-10A>G
|
rs2082636753
|
|
NM_000051.4(ATM):c.4110-3T>C
|
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4110G>C (p.Gly1370=)
|
rs2082638172
|
|
NM_000051.4(ATM):c.4111G>T (p.Asp1371Tyr)
|
|
|
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)
|
|
|
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val)
|
rs762242838
|
|
NM_000051.4(ATM):c.4117G>T (p.Asp1373Tyr)
|
|
|
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr)
|
rs2135750720
|
|
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.4129A>C (p.Asn1377His)
|
rs2082639157
|
|
NM_000051.4(ATM):c.4129A>T (p.Asn1377Tyr)
|
rs2082639157
|
|
NM_000051.4(ATM):c.412G>C (p.Gly138Arg)
|
rs150661813
|
|
NM_000051.4(ATM):c.4130A>C (p.Asn1377Thr)
|
rs1565454896
|
|
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser)
|
rs1565454896
|
|
NM_000051.4(ATM):c.4132C>A (p.Pro1378Thr)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr)
|
rs1555096828
|
|
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_000051.4(ATM):c.4139A>G (p.His1380Arg)
|
rs2082640431
|
|
NM_000051.4(ATM):c.413G>C (p.Gly138Ala)
|
rs2135123439
|
|
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu)
|
rs1555096841
|
|
NM_000051.4(ATM):c.4142T>C (p.Phe1381Ser)
|
|
|
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu)
|
rs2082640762
|
|
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.4158T>G (p.Ile1386Met)
|
rs879254026
|
|
NM_000051.4(ATM):c.415G>T (p.Ala139Ser)
|
rs1555059288
|
|
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala)
|
rs1591660534
|
|
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile)
|
rs2082642834
|
|
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del)
|
rs2135752050
|
|
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr)
|
rs2135752151
|
|
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp)
|
rs1591660560
|
|
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val)
|
rs1591660560
|
|
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys)
|
rs876658239
|
|
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe)
|
rs876658239
|
|
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu)
|
rs1565455097
|
|
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)
|
rs375396787
|
|
NM_000051.4(ATM):c.418G>C (p.Asp140His)
|
rs55633650
|
|
NM_000051.4(ATM):c.4192A>G (p.Lys1398Glu)
|
|
|
NM_000051.4(ATM):c.4194A>T (p.Lys1398Asn)
|
rs1565455145
|
|
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala)
|
rs1555096955
|
|
NM_000051.4(ATM):c.4195A>T (p.Thr1399Ser)
|
rs1555096955
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
NM_000051.4(ATM):c.4196C>T (p.Thr1399Ile)
|
rs786203761
|
|
NM_000051.4(ATM):c.41A>G (p.Gln14Arg)
|
rs749776879
|
|
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
|
|
|
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn)
|
rs2135753163
|
|
NM_000051.4(ATM):c.4208G>C (p.Ser1403Thr)
|
|
|
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg)
|
rs876658701
|
|
NM_000051.4(ATM):c.420T>A (p.Asp140Glu)
|
rs1591475108
|
|
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val)
|
rs1382006540
|
|
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
|
|
|
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)
|
rs1565357020
|
|
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe)
|
rs1565455224
|
|
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.4232G>C (p.Ser1411Thr)
|
rs2135753735
|
|
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser)
|
rs1591660899
|
|
NM_000051.4(ATM):c.4236+2_4236+3insCT
|
rs1185729358
|
|
NM_000051.4(ATM):c.4236+5G>A
|
rs1441281768
|
|
NM_000051.4(ATM):c.4236T>G (p.Pro1412=)
|
rs1326629661
|
|
NM_000051.4(ATM):c.4237-7_4237-5del
|
|
|
NM_000051.4(ATM):c.4237-8T>G
|
rs750427647
|
|
NM_000051.4(ATM):c.4237-9_4237-7del
|
rs1555097355
|
|
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.4238A>T (p.Asp1413Val)
|
|
|
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
|
|
|
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)
|
rs876660540
|
|
NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)
|
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
|
|
|
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr)
|
rs1555097395
|
|
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
|
|
|
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>A (p.Ile1422Lys)
|
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
NM_000051.4(ATM):c.4266A>G (p.Ile1422Met)
|
rs768794637
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg)
|
rs2082671727
|
|
NM_000051.4(ATM):c.4279G>C (p.Ala1427Pro)
|
|
|
NM_000051.4(ATM):c.4279G>T (p.Ala1427Ser)
|
|
|
NM_000051.4(ATM):c.427A>G (p.Asn143Asp)
|
rs587781688
|
|
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)
|
rs1369272813
|
|
NM_000051.4(ATM):c.4287A>G (p.Thr1429=)
|
rs1591662793
|
|
NM_000051.4(ATM):c.428A>G (p.Asn143Ser)
|
rs1565357066
|
|
NM_000051.4(ATM):c.4291A>C (p.Asn1431His)
|
rs748144169
|
|
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser)
|
rs201356803
|
|
NM_000051.4(ATM):c.4294G>A (p.Val1432Ile)
|
|
|
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.4298A>G (p.Tyr1433Cys)
|
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
|
|
|
NM_000051.4(ATM):c.4302G>C (p.Lys1434Asn)
|
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.430A>G (p.Ile144Val)
|
rs1555059323
|
|
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys)
|
rs1227046364
|
|
NM_000051.4(ATM):c.4310G>C (p.Arg1437Thr)
|
|
|
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
|
|
|
NM_000051.4(ATM):c.4316T>A (p.Leu1439His)
|
rs1591663032
|
|
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro)
|
rs1591663032
|
|
NM_000051.4(ATM):c.431T>G (p.Ile144Arg)
|
rs2135124131
|
|
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn)
|
rs2082675235
|
|
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.4322T>G (p.Ile1441Arg)
|
|
|
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met)
|
rs587779839
|
|
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys)
|
rs1565456320
|
|
NM_000051.4(ATM):c.4325A>T (p.Tyr1442Phe)
|
|
|
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)
|
rs1555097538
|
|
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)
|
|
|
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup)
|
rs2135124161
|
|
NM_000051.4(ATM):c.4330C>G (p.Leu1444Val)
|
|
|
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln)
|
rs2082676298
|
|
NM_000051.4(ATM):c.4331T>C (p.Leu1444Pro)
|
|
|
NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup)
|
rs1060501663
|
|
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>G (p.Phe1445Leu)
|
|
|
NM_000051.4(ATM):c.4336G>A (p.Val1446Ile)
|
rs1060501658
|
|
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe)
|
rs1060501658
|
|
NM_000051.4(ATM):c.4337T>A (p.Val1446Asp)
|
rs1591663249
|
|
NM_000051.4(ATM):c.4339A>C (p.Ser1447Arg)
|
|
|
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
|
|
|
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg)
|
rs1565456454
|
|
NM_000051.4(ATM):c.4342TTA[3] (p.Leu1450_Lys1451insLeu)
|
|
|
NM_000051.4(ATM):c.4345T>G (p.Leu1449Val)
|
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.4349T>C (p.Leu1450Pro)
|
rs750306932
|
|
NM_000051.4(ATM):c.434T>A (p.Leu145Gln)
|
rs1555059346
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
NM_000051.4(ATM):c.4354G>A (p.Asp1452Asn)
|
|
|
NM_000051.4(ATM):c.4354G>C (p.Asp1452His)
|
rs1012695949
|
|
NM_000051.4(ATM):c.4354G>T (p.Asp1452Tyr)
|
rs1012695949
|
|
NM_000051.4(ATM):c.4355A>T (p.Asp1452Val)
|
rs1565456579
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4359A>G (p.Ile1453Met)
|
rs1213190389
|
|
NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)
|
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr)
|
rs2082679943
|
|
NM_000051.4(ATM):c.4366G>A (p.Gly1456Ser)
|
rs1591663544
|
|
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp)
|
rs894398811
|
|
NM_000051.4(ATM):c.436C>T (p.Leu146Phe)
|
rs2135124363
|
|
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg)
|
rs2135764207
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly)
|
rs376165779
|
|
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)
|
rs376165779
|
|
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn)
|
rs1555059356
|
|
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg)
|
rs982008501
|
|
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
|
|
|
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp)
|
rs2082682300
|
|
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala)
|
rs2082682300
|
|
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del)
|
rs2082682405
|
|
NM_000051.4(ATM):c.4394T>A (p.Leu1465His)
|
rs730881391
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
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.4397G>T (p.Arg1466Leu)
|
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
NM_000051.4(ATM):c.4400_4405dup (p.Val1468_Ile1469insAsnVal)
|
rs2082683548
|
|
NM_000051.4(ATM):c.4408T>G (p.Tyr1470Asp)
|
|
|
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys)
|
rs1591663898
|
|
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)
|
rs2082684549
|
|
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser)
|
rs772555314
|
|
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
|
|
|
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met)
|
rs2082685196
|
|
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>G (p.His1474Gln)
|
|
|
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val)
|
rs1565457035
|
|
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met)
|
rs876659370
|
|
NM_000051.4(ATM):c.442G>C (p.Asp148His)
|
rs2135124628
|
|
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg)
|
rs2082686442
|
|
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu)
|
rs2082686442
|
|
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly)
|
rs2082686702
|
|
NM_000051.4(ATM):c.4436+3A>G
|
rs2082686950
|
|
NM_000051.4(ATM):c.4436+3A>T
|
rs2082686950
|
|
NM_000051.4(ATM):c.4436+6T>C
|
rs2082687309
|
|
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)
|
rs2135767002
|
|
NM_000051.4(ATM):c.4437-8T>G
|
rs765929660
|
|
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser)
|
rs2082856332
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)
|
|
|
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)
|
rs1064793037
|
|
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro)
|
rs2135797205
|
|
NM_000051.4(ATM):c.4445G>T (p.Cys1482Phe)
|
|
|
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe)
|
rs1281685502
|
|
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
|
|
|
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu)
|
rs2135797458
|
|
NM_000051.4(ATM):c.4451T>A (p.Met1484Lys)
|
|
|
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)
|
rs786203785
|
|
NM_000051.4(ATM):c.4454A>C (p.Asp1485Ala)
|
rs1555099762
|
|
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly)
|
rs1555099762
|
|
NM_000051.4(ATM):c.4456G>A (p.Val1486Met)
|
rs786203352
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.445A>G (p.Ile149Val)
|
rs1565357194
|
|
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)
|
rs1565357194
|
|
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)
|
|
|
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu)
|
rs201594549
|
|
NM_000051.4(ATM):c.4469G>A (p.Ser1490Asn)
|
rs2135798205
|
|
NM_000051.4(ATM):c.446T>A (p.Ile149Asn)
|
rs587782353
|
|
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val)
|
rs377595814
|
|
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.4484G>T (p.Cys1495Phe)
|
rs878853510
|
|
NM_000051.4(ATM):c.4487A>G (p.Asp1496Gly)
|
|
|
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del)
|
rs1555099818
|
|
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
|
|
|
NM_000051.4(ATM):c.448C>T (p.Leu150Phe)
|
rs1555059404
|
|
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser)
|
rs1329359780
|
|
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)
|
rs1064793476
|
|
NM_000051.4(ATM):c.4495A>C (p.Ser1499Arg)
|
rs2135799018
|
|
NM_000051.4(ATM):c.4496G>C (p.Ser1499Thr)
|
rs1222314846
|
|
NM_000051.4(ATM):c.4499A>C (p.Gln1500Pro)
|
rs786203789
|
|
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg)
|
rs786203789
|
|
NM_000051.4(ATM):c.449T>C (p.Leu150Pro)
|
rs2079244605
|
|
NM_000051.4(ATM):c.44T>A (p.Leu15Gln)
|
rs1555053927
|
|
NM_000051.4(ATM):c.44T>G (p.Leu15Arg)
|
rs1555053927
|
|
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe)
|
rs370574283
|
|
NM_000051.4(ATM):c.4503T>C (p.Val1501=)
|
rs2082863480
|
|
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr)
|
rs759340881
|
|
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg)
|
rs1555099858
|
|
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile)
|
rs1060501638
|
|
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)
|
rs760542469
|
|
NM_000051.4(ATM):c.4516G>C (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4517T>A (p.Val1506Glu)
|
rs1555099878
|
|
NM_000051.4(ATM):c.451T>C (p.Ser151Pro)
|
rs1565357241
|
|
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg)
|
rs1064795574
|
|
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr)
|
rs2082866294
|
|
NM_000051.4(ATM):c.452C>G (p.Ser151Cys)
|
rs1565357249
|
|
NM_000051.4(ATM):c.452C>T (p.Ser151Phe)
|
rs1565357249
|
|
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn)
|
rs2135800277
|
|
NM_000051.4(ATM):c.4531G>C (p.Asp1511His)
|
rs2135800277
|
|
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val)
|
rs1591674356
|
|
NM_000051.4(ATM):c.4533T>A (p.Asp1511Glu)
|
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val)
|
rs1591674385
|
|
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val)
|
rs2082867393
|
|
NM_000051.4(ATM):c.4540G>A (p.Glu1514Lys)
|
|
|
NM_000051.4(ATM):c.4543A>G (p.Asn1515Asp)
|
|
|
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4546C>A (p.His1516Asn)
|
rs1389372050
|
|
NM_000051.4(ATM):c.4547A>G (p.His1516Arg)
|
rs1565461434
|
|
NM_000051.4(ATM):c.4547A>T (p.His1516Leu)
|
|
|
NM_000051.4(ATM):c.4552C>A (p.His1518Asn)
|
rs2135800970
|
|
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.4555G>C (p.Val1519Leu)
|
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.4561G>A (p.Val1521Ile)
|
rs141329176
|
|
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala)
|
rs786202673
|
|
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile)
|
rs1555099959
|
|
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.4571T>A (p.Leu1524His)
|
rs1555099971
|
|
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met)
|
rs781539071
|
|
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala)
|
rs748898098
|
|
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)
|
rs748898098
|
|
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu)
|
rs770590652
|
|
NM_000051.4(ATM):c.4577_4578delinsTT (p.Pro1526Leu)
|
rs1591674732
|
|
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.457A>G (p.Arg153Gly)
|
rs1555059438
|
|
NM_000051.4(ATM):c.4585T>C (p.Tyr1529His)
|
|
|
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)
|
rs1365089723
|
|
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala)
|
rs2082872800
|
|
NM_000051.4(ATM):c.4594G>A (p.Val1532Met)
|
rs2135802444
|
|
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe)
|
rs745351684
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
NM_000051.4(ATM):c.4605G>C (p.Gln1535His)
|
|
|
NM_000051.4(ATM):c.4610A>G (p.Gln1537Arg)
|
rs1064794041
|
|
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu)
|
rs1064794041
|
|
NM_000051.4(ATM):c.4611+3A>C
|
rs2082874444
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
NM_000051.4(ATM):c.4611+4A>G
|
rs1591674933
|
|
NM_000051.4(ATM):c.4611+6T>C
|
rs1555100047
|
|
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
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.4621T>G (p.Leu1541Val)
|
|
|
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe)
|
rs3092849
|
|
NM_000051.4(ATM):c.4636G>A (p.Val1546Met)
|
rs1305696123
|
|
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del)
|
rs2135810241
|
|
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
NM_000051.4(ATM):c.4642_4643inv (p.Asp1548Ser)
|
|
|
NM_000051.4(ATM):c.4643A>G (p.Asp1548Gly)
|
|
|
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.4649A>G (p.Lys1550Arg)
|
|
|
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.4653T>A (p.Asp1551Glu)
|
|
|
NM_000051.4(ATM):c.4655A>G (p.Asn1552Ser)
|
rs2135810797
|
|
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del)
|
rs2079245695
|
|
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.4664T>C (p.Leu1555Pro)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser)
|
rs587782037
|
|
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)
|
|
|
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val)
|
rs2135811264
|
|
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn)
|
rs2082917922
|
|
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.4676T>G (p.Ile1559Ser)
|
|
|
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln)
|
rs767981230
|
|
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn)
|
rs2135811674
|
|
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val)
|
rs1591677342
|
|
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe)
|
rs1591677342
|
|
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro)
|
rs2135811719
|
|
NM_000051.4(ATM):c.4687G>C (p.Asp1563His)
|
rs1464587365
|
|
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr)
|
rs1490905322
|
|
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu)
|
rs1064793971
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)
|
|
|
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala)
|
rs1555100549
|
|
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
|
|
|
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
|
|
|
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
|
|
|
NM_000051.4(ATM):c.4720T>G (p.Leu1574Val)
|
|
|
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser)
|
rs1408892416
|
|
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.4726A>G (p.Ile1576Val)
|
rs2082921955
|
|
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)
|
|
|
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile)
|
rs2135812963
|
|
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg)
|
rs2082922811
|
|
NM_000051.4(ATM):c.4736A>C (p.Gln1579Pro)
|
|
|
NM_000051.4(ATM):c.4738A>G (p.Lys1580Glu)
|
rs1591677635
|
|
NM_000051.4(ATM):c.4740A>C (p.Lys1580Asn)
|
rs2082923397
|
|
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val)
|
rs1565463271
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met)
|
rs1591677662
|
|
NM_000051.4(ATM):c.4750A>G (p.Ser1584Gly)
|
|
|
NM_000051.4(ATM):c.4751G>A (p.Ser1584Asn)
|
rs1591677692
|
|
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile)
|
rs1591677692
|
|
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg)
|
rs1565463314
|
|
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
|
|
|
NM_000051.4(ATM):c.475A>C (p.Ile159Leu)
|
rs1565357315
|
|
NM_000051.4(ATM):c.4760C>A (p.Pro1587His)
|
rs748044422
|
|
NM_000051.4(ATM):c.4762T>C (p.Phe1588Leu)
|
rs2082925146
|
|
NM_000051.4(ATM):c.4766C>T (p.Ser1589Leu)
|
rs2082925270
|
|
NM_000051.4(ATM):c.4769T>G (p.Leu1590Arg)
|
|
|
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp)
|
rs1565463381
|
|
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala)
|
rs1565463405
|
|
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)
|
rs1565463405
|
|
NM_000051.4(ATM):c.4776+4A>G
|
rs1591677924
|
|
NM_000051.4(ATM):c.4776+6A>C
|
rs1348555180
|
|
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.4777-4_4777-3del
|
rs2083032760
|
|
NM_000051.4(ATM):c.4777-6T>C
|
rs1565465980
|
|
NM_000051.4(ATM):c.4777-7_4777-6del
|
rs1064794458
|
|
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.4782T>G (p.Ile1594Met)
|
rs2135833642
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys)
|
rs2135833730
|
|
NM_000051.4(ATM):c.478T>G (p.Ser160Ala)
|
rs761170769
|
|
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys)
|
rs2083034224
|
|
NM_000051.4(ATM):c.4798G>A (p.Val1600Ile)
|
rs2135834139
|
|
NM_000051.4(ATM):c.4798G>T (p.Val1600Leu)
|
rs2135834139
|
|
NM_000051.4(ATM):c.4799T>A (p.Val1600Glu)
|
rs1591684386
|
|
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala)
|
rs1591684386
|
|
NM_000051.4(ATM):c.479C>T (p.Ser160Phe)
|
rs35858242
|
|
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly)
|
rs876660520
|
|
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr)
|
rs587782506
|
|
NM_000051.4(ATM):c.4804G>T (p.Val1602Phe)
|
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
NM_000051.4(ATM):c.4807T>G (p.Tyr1603Asp)
|
rs994121421
|
|
NM_000051.4(ATM):c.480_482dup (p.Ser160_Gln161insHis)
|
|
|
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.4814C>A (p.Ala1605Glu)
|
|
|
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)
|
rs786203520
|
|
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe)
|
rs746103632
|
|
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr)
|
rs1178015475
|
|
NM_000051.4(ATM):c.4819C>G (p.Pro1607Ala)
|
|
|
NM_000051.4(ATM):c.481C>G (p.Gln161Glu)
|
|
|
NM_000051.4(ATM):c.4820C>G (p.Pro1607Arg)
|
rs864622462
|
|
NM_000051.4(ATM):c.4820C>T (p.Pro1607Leu)
|
rs864622462
|
|
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)
|
rs761197886
|
|
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.4831C>T (p.Leu1611Phe)
|
rs1026156596
|
|
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)
|
|
|
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala)
|
rs2083038889
|
|
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val)
|
rs2083038889
|
|
NM_000051.4(ATM):c.483G>C (p.Gln161His)
|
rs864622742
|
|
NM_000051.4(ATM):c.483G>T (p.Gln161His)
|
rs864622742
|
|
NM_000051.4(ATM):c.4843A>G (p.Lys1615Glu)
|
|
|
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr)
|
rs867309383
|
|
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn)
|
rs888498126
|
|
NM_000051.4(ATM):c.4847A>T (p.Asp1616Val)
|
rs1591684782
|
|
NM_000051.4(ATM):c.4848T>A (p.Asp1616Glu)
|
rs2083040302
|
|
NM_000051.4(ATM):c.4850T>C (p.Leu1617Pro)
|
rs2083040595
|
|
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly)
|
rs762083530
|
|
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.485A>G (p.Gln162Arg)
|
rs1285593159
|
|
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)
|
|
|
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)
|
|
|
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln)
|
rs1555101864
|
|
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.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
NM_000051.4(ATM):c.4870C>A (p.His1624Asn)
|
rs1591684971
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg)
|
rs1591685009
|
|
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)
|
|
|
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879C>G (p.Gln1627Glu)
|
|
|
NM_000051.4(ATM):c.487C>G (p.Gln163Glu)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg)
|
rs786203857
|
|
NM_000051.4(ATM):c.4882A>G (p.Met1628Val)
|
rs1591685091
|
|
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu)
|
rs1591685091
|
|
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile)
|
rs2083044750
|
|
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.4887G>A (p.Val1629=)
|
|
|
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)
|
rs1565466579
|
|
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe)
|
rs2135837721
|
|
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser)
|
rs1060501674
|
|
NM_000051.4(ATM):c.4894A>G (p.Met1632Val)
|
rs1060501709
|
|
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.489G>C (p.Gln163His)
|
rs1057523087
|
|
NM_000051.4(ATM):c.489G>T (p.Gln163His)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr)
|
rs1565466632
|
|
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
|
|
|
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del)
|
rs2135838090
|
|
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr)
|
rs2083047150
|
|
NM_000051.4(ATM):c.4906C>G (p.Gln1636Glu)
|
|
|
NM_000051.4(ATM):c.4909+4C>G
|
|
|
NM_000051.4(ATM):c.4909+5T>C
|
rs2083048367
|
|
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)
|
|
|
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr)
|
rs753870656
|
|
NM_000051.4(ATM):c.490T>C (p.Trp164Arg)
|
rs1060501699
|
|
NM_000051.4(ATM):c.4910-10T>G
|
rs2083173059
|
|
NM_000051.4(ATM):c.4910-11A>T
|
|
|
NM_000051.4(ATM):c.4910-16_4910-5delinsTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGATTATCTAGAAATAATTTTTTAAAAATTAGTTTAAA
|
|
|
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTATTTCTAG
|
|
|
NM_000051.4(ATM):c.4910-6T>G
|
rs878853513
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr)
|
rs1565469722
|
|
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser)
|
rs1565469722
|
|
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg)
|
rs752459491
|
|
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro)
|
rs1555103190
|
|
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg)
|
rs1555103190
|
|
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
|
|
|
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg)
|
rs2135861446
|
|
NM_000051.4(ATM):c.4925G>A (p.Gly1642Glu)
|
|
|
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)
|
|
|
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
|
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
NM_000051.4(ATM):c.4930A>G (p.Met1644Val)
|
rs1591692514
|
|
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.4932G>C (p.Met1644Ile)
|
rs730881371
|
|
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu)
|
rs757381170
|
|
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu)
|
rs757381170
|
|
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln)
|
rs2135861949
|
|
NM_000051.4(ATM):c.493T>A (p.Leu165Ile)
|
rs878853514
|
|
NM_000051.4(ATM):c.493T>G (p.Leu165Val)
|
rs878853514
|
|
NM_000051.4(ATM):c.4940T>A (p.Leu1647Gln)
|
|
|
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala)
|
rs997081415
|
|
NM_000051.4(ATM):c.4944_4946del (p.Val1649del)
|
rs2135862163
|
|
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp)
|
rs2135862254
|
|
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)
|
|
|
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)
|
rs55870064
|
|
NM_000051.4(ATM):c.4951T>A (p.Leu1651Met)
|
|
|
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>T (p.Leu1651Phe)
|
rs786201297
|
|
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu)
|
rs1565469955
|
|
NM_000051.4(ATM):c.496+4T>A
|
|
|
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser)
|
rs587781679
|
|
NM_000051.4(ATM):c.4963T>G (p.Ser1655Ala)
|
rs1376280581
|
|
NM_000051.4(ATM):c.4964C>T (p.Ser1655Phe)
|
rs786201215
|
|
NM_000051.4(ATM):c.4966A>G (p.Lys1656Glu)
|
rs1565470010
|
|
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg)
|
rs2083179153
|
|
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu)
|
rs1060501656
|
|
NM_000051.4(ATM):c.4969A>G (p.Met1657Val)
|
rs1060501656
|
|
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu)
|
rs1060501656
|
|
NM_000051.4(ATM):c.496G>A (p.Glu166Lys)
|
rs1565357473
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.497-2A>T
|
rs1278985870
|
|
NM_000051.4(ATM):c.497-2_498del
|
rs1591499502
|
|
NM_000051.4(ATM):c.497-3A>G
|
rs1046559213
|
|
NM_000051.4(ATM):c.497-3_498del
|
rs1205233530
|
|
NM_000051.4(ATM):c.497-5T>A
|
|
|
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
|
|
|
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser)
|
rs372679141
|
|
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr)
|
rs1555103271
|
|
NM_000051.4(ATM):c.4978A>C (p.Asn1660His)
|
|
|
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile)
|
rs2083180093
|
|
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.4984A>G (p.Thr1662Ala)
|
|
|
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn)
|
rs1591692969
|
|
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.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)
|
|
|
NM_000051.4(ATM):c.4988G>A (p.Gly1663Asp)
|
|
|
NM_000051.4(ATM):c.498A>C (p.Glu166Asp)
|
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>C (p.Glu1664Gln)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4991A>G (p.Glu1664Gly)
|
rs2083181675
|
|
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
|
|
|
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile)
|
rs780137734
|
|
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu)
|
rs780137734
|
|
NM_000051.4(ATM):c.4A>G (p.Ser2Gly)
|
rs1591445677
|
|
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly)
|
rs2135864002
|
|
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile)
|
rs747317946
|
|
NM_000051.4(ATM):c.5004A>G (p.Leu1668=)
|
rs768565424
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)
|
|
|
NM_000051.4(ATM):c.5006-4G>A
|
rs1591701752
|
|
NM_000051.4(ATM):c.5006-5T>A
|
rs1555104475
|
|
NM_000051.4(ATM):c.5006-5T>G
|
|
|
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp)
|
rs2135887789
|
|
NM_000051.4(ATM):c.5008G>T (p.Ala1670Ser)
|
|
|
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala)
|
rs1361913028
|
|
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn)
|
rs878853515
|
|
NM_000051.4(ATM):c.501G>T (p.Leu167Phe)
|
rs1181703620
|
|
NM_000051.4(ATM):c.501_503del (p.Leu167del)
|
rs1555066242
|
|
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg)
|
rs1555104511
|
|
NM_000051.4(ATM):c.5021G>A (p.Cys1674Tyr)
|
rs1555104518
|
|
NM_000051.4(ATM):c.5021G>T (p.Cys1674Phe)
|
rs1555104518
|
|
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)
|
rs2083319473
|
|
NM_000051.4(ATM):c.5024T>C (p.Leu1675Ser)
|
|
|
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu)
|
rs1565473530
|
|
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del)
|
rs1555104529
|
|
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del)
|
rs2135888605
|
|
NM_000051.4(ATM):c.502T>C (p.Phe168Leu)
|
rs1565369177
|
|
NM_000051.4(ATM):c.5031A>C (p.Glu1677Asp)
|
rs2083320477
|
|
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu)
|
rs878853516
|
|
NM_000051.4(ATM):c.5033T>G (p.Val1678Gly)
|
rs878853516
|
|
NM_000051.4(ATM):c.5034_5035delinsTC (p.Gly1679Arg)
|
rs2083321272
|
|
NM_000051.4(ATM):c.5035G>A (p.Gly1679Ser)
|
|
|
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.5039C>G (p.Pro1680Arg)
|
rs587782153
|
|
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.5042T>G (p.Ile1681Arg)
|
rs1307715383
|
|
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met)
|
rs2083322309
|
|
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn)
|
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.5048T>A (p.Phe1683Tyr)
|
rs2083322735
|
|
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr)
|
rs1591702098
|
|
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys)
|
rs1565473651
|
|
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe)
|
rs1565473651
|
|
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.5053A>T (p.Thr1685Ser)
|
|
|
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr)
|
rs1555104597
|
|
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del)
|
rs2135221888
|
|
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly)
|
rs1591702201
|
|
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg)
|
rs199836342
|
|
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg)
|
rs1555104616
|
|
NM_000051.4(ATM):c.5068C>G (p.His1690Asp)
|
rs1591702291
|
|
NM_000051.4(ATM):c.506C>T (p.Ser169Phe)
|
rs587779843
|
|
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly)
|
rs1800059
|
|
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu)
|
rs2083326508
|
|
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.5081C>T (p.Ala1694Val)
|
rs587782551
|
|
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro)
|
rs142455912
|
|
NM_000051.4(ATM):c.508G>A (p.Val170Met)
|
rs786202781
|
|
NM_000051.4(ATM):c.508G>C (p.Val170Leu)
|
|
|
NM_000051.4(ATM):c.508G>T (p.Val170Leu)
|
rs786202781
|
|
NM_000051.4(ATM):c.5092A>G (p.Lys1698Glu)
|
|
|
NM_000051.4(ATM):c.5093A>G (p.Lys1698Arg)
|
|
|
NM_000051.4(ATM):c.5093A>T (p.Lys1698Met)
|
rs1591702557
|
|
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.5099T>G (p.Leu1700Arg)
|
rs2135890816
|
|
NM_000051.4(ATM):c.50A>C (p.His17Pro)
|
|
|
NM_000051.4(ATM):c.50A>G (p.His17Arg)
|
rs1242444722
|
|
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)
|
rs746220021
|
|
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr)
|
rs2083330722
|
|
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu)
|
rs1591702635
|
|
NM_000051.4(ATM):c.5107T>G (p.Phe1703Val)
|
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly)
|
rs2083331490
|
|
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn)
|
rs1565474013
|
|
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)
|
rs2083331705
|
|
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)
|
|
|
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu)
|
rs1291151519
|
|
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys)
|
rs1565474056
|
|
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.5127G>C (p.Gln1709His)
|
rs1057521839
|
|
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys)
|
rs1060501616
|
|
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe)
|
rs1060501616
|
|
NM_000051.4(ATM):c.5131A>G (p.Thr1711Ala)
|
|
|
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn)
|
rs1291016764
|
|
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)
|
rs1291016764
|
|
NM_000051.4(ATM):c.5134T>C (p.Phe1712Leu)
|
rs2135891932
|
|
NM_000051.4(ATM):c.5134_5136del (p.Phe1712del)
|
rs2135891905
|
|
NM_000051.4(ATM):c.5137A>G (p.Ile1713Val)
|
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg)
|
rs1591702873
|
|
NM_000051.4(ATM):c.514T>C (p.Phe172Leu)
|
rs786201608
|
|
NM_000051.4(ATM):c.514T>G (p.Phe172Val)
|
|
|
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
|
|
|
NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)
|
|
|
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln)
|
rs1555104784
|
|
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp)
|
rs2083336312
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp)
|
rs2135892784
|
|
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys)
|
rs1565474287
|
|
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
|
|
|
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile)
|
rs786203910
|
|
NM_000051.4(ATM):c.5165T>C (p.Leu1722Pro)
|
|
|
NM_000051.4(ATM):c.5166_5168dup (p.Val1723_Glu1724insVal)
|
|
|
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile)
|
rs1565474312
|
|
NM_000051.4(ATM):c.5167G>C (p.Val1723Leu)
|
|
|
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)
|
rs915337829
|
|
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly)
|
rs2135893191
|
|
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)
|
|
|
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr)
|
rs1555104799
|
|
NM_000051.4(ATM):c.5177+3_5177+6del
|
|
|
NM_000051.4(ATM):c.5177+4A>C
|
rs2083338902
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5177+5G>T
|
rs759373136
|
|
NM_000051.4(ATM):c.5177+6T>A
|
rs1555104814
|
|
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe)
|
rs2083338412
|
|
NM_000051.4(ATM):c.5178-10T>G
|
rs1565476613
|
|
NM_000051.4(ATM):c.5178-11_5178-9del
|
|
|
NM_000051.4(ATM):c.5178-14A>G
|
|
|
NM_000051.4(ATM):c.5178-3del
|
rs1555105575
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
|
|
|
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)
|
|
|
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)
|
rs1179068103
|
|
NM_000051.4(ATM):c.5189G>C (p.Arg1730Pro)
|
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.518G>C (p.Arg173Thr)
|
|
|
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro)
|
rs1064793038
|
|
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del)
|
rs2135912045
|
|
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr)
|
rs730881372
|
|
NM_000051.4(ATM):c.5194G>T (p.Ala1732Ser)
|
|
|
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>A (p.Arg173=)
|
|
|
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)
|
|
|
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
|
|
|
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile)
|
rs1555105650
|
|
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr)
|
rs1172318140
|
|
NM_000051.4(ATM):c.520C>T (p.Leu174Phe)
|
rs1565369274
|
|
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp)
|
rs1591708558
|
|
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu)
|
rs1064793957
|
|
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
|
|
|
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
|
|
|
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu)
|
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.5227A>G (p.Thr1743Ala)
|
rs758924620
|
|
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser)
|
rs758924620
|
|
NM_000051.4(ATM):c.5231A>G (p.Lys1744Arg)
|
|
|
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn)
|
rs2083440178
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)
|
|
|
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.523T>A (p.Tyr175Asn)
|
rs2079697425
|
|
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.5242A>G (p.Ser1748Gly)
|
|
|
NM_000051.4(ATM):c.5243G>T (p.Ser1748Ile)
|
|
|
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg)
|
rs2083440966
|
|
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg)
|
|
|
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.5253G>T (p.Glu1751Asp)
|
rs1370155496
|
|
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr)
|
rs2083441818
|
|
NM_000051.4(ATM):c.5257T>G (p.Tyr1753Asp)
|
|
|
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys)
|
rs777481236
|
|
NM_000051.4(ATM):c.5261A>G (p.Lys1754Arg)
|
|
|
NM_000051.4(ATM):c.5263A>G (p.Met1755Val)
|
rs876659150
|
|
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys)
|
rs1555105739
|
|
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr)
|
rs1555105739
|
|
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile)
|
rs1060501556
|
|
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle)
|
rs2083442751
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro)
|
rs1591708923
|
|
NM_000051.4(ATM):c.526C>A (p.Leu176Met)
|
rs375798802
|
|
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile)
|
rs587781575
|
|
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu)
|
rs913665369
|
|
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu)
|
rs1565477222
|
|
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu)
|
rs151327241
|
|
NM_000051.4(ATM):c.5279T>A (p.Met1760Lys)
|
|
|
NM_000051.4(ATM):c.5279T>C (p.Met1760Thr)
|
|
|
NM_000051.4(ATM):c.527T>A (p.Leu176Gln)
|
rs1555066315
|
|
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val)
|
rs2083443935
|
|
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly)
|
rs1272524343
|
|
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys)
|
rs1555105780
|
|
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val)
|
rs2083444552
|
|
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg)
|
rs2135915061
|
|
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg)
|
rs35556390
|
|
NM_000051.4(ATM):c.52G>A (p.Asp18Asn)
|
rs2078809121
|
|
NM_000051.4(ATM):c.52G>C (p.Asp18His)
|
|
|
NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)
|
|
|
NM_000051.4(ATM):c.52_54dup (p.Asp18dup)
|
rs2135005981
|
|
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser)
|
rs864622125
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5306C>T (p.Thr1769Ile)
|
|
|
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys)
|
rs1416930012
|
|
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
|
|
|
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg)
|
rs2135915965
|
|
NM_000051.4(ATM):c.5319+11T>G
|
|
|
NM_000051.4(ATM):c.5319+3C>T
|
rs371640963
|
|
NM_000051.4(ATM):c.5319+3_5319+5del
|
|
|
NM_000051.4(ATM):c.5319+4T>A
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319+4T>C
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319+5C>T
|
rs1565477462
|
|
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn)
|
rs2083446824
|
|
NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)
|
|
|
NM_000051.4(ATM):c.5320-3T>C
|
rs1346691984
|
|
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
|
|
|
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val)
|
rs2083497029
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser)
|
rs1279041730
|
|
NM_000051.4(ATM):c.5333C>T (p.Pro1778Leu)
|
|
|
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
|
|
|
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser)
|
rs369351803
|
|
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr)
|
rs2083497990
|
|
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys)
|
rs2083497990
|
|
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)
|
rs1591499842
|
|
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu)
|
rs1591712154
|
|
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn)
|
rs1555106345
|
|
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys)
|
rs2083498434
|
|
NM_000051.4(ATM):c.5350A>G (p.Asn1784Asp)
|
|
|
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala)
|
rs587779848
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)
|
rs1555106375
|
|
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val)
|
rs2135927977
|
|
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.536C>T (p.Ser179Leu)
|
rs2079698324
|
|
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
|
|
|
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly)
|
rs367987632
|
|
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val)
|
rs1555106405
|
|
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg)
|
rs776309355
|
|
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5377A>C (p.Asn1793His)
|
rs730881374
|
|
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
|
|
|
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val)
|
rs1591712398
|
|
NM_000051.4(ATM):c.5381T>G (p.Leu1794Arg)
|
|
|
NM_000051.4(ATM):c.5386A>G (p.Ile1796Val)
|
|
|
NM_000051.4(ATM):c.5389C>A (p.Pro1797Thr)
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
NM_000051.4(ATM):c.5390C>T (p.Pro1797Leu)
|
rs2135928610
|
|
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)
|
rs879254274
|
|
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)
|
rs2083501896
|
|
NM_000051.4(ATM):c.539A>G (p.Gln180Arg)
|
rs730881334
|
|
NM_000051.4(ATM):c.539A>T (p.Gln180Leu)
|
rs730881334
|
|
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp)
|
rs2135928904
|
|
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.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.5407G>C (p.Asp1803His)
|
rs2083502901
|
|
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val)
|
rs2135929138
|
|
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
|
|
|
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu)
|
rs1591712583
|
|
NM_000051.4(ATM):c.541G>A (p.Asp181Asn)
|
rs2079698928
|
|
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del)
|
rs2083503966
|
|
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val)
|
rs2135929542
|
|
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln)
|
rs2083504168
|
|
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.5428A>T (p.Thr1810Ser)
|
rs876659748
|
|
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile)
|
rs1565479223
|
|
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser)
|
rs149569091
|
|
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp)
|
rs2083505270
|
|
NM_000051.4(ATM):c.5442G>A (p.Leu1814=)
|
rs2083505400
|
|
NM_000051.4(ATM):c.5444A>T (p.Asp1815Val)
|
|
|
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu)
|
|
|
NM_000051.4(ATM):c.5445C>G (p.Asp1815Glu)
|
rs1555106518
|
|
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr)
|
rs2135930154
|
|
NM_000051.4(ATM):c.544G>A (p.Val182Ile)
|
rs3218707
|
|
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser)
|
rs774784546
|
|
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu)
|
rs1555106531
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)
|
rs983664978
|
|
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
|
|
|
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)
|
|
|
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys)
|
rs1591712872
|
|
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala)
|
rs2135930592
|
|
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe)
|
rs2083508049
|
|
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro)
|
rs1565479465
|
|
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.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
|
|
|
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.547C>T (p.His183Tyr)
|
rs1409889384
|
|
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln)
|
rs2083509111
|
|
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu)
|
rs587781622
|
|
NM_000051.4(ATM):c.548A>C (p.His183Pro)
|
rs786204219
|
|
NM_000051.4(ATM):c.548A>G (p.His183Arg)
|
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.5494G>A (p.Glu1832Lys)
|
rs1591713057
|
|
NM_000051.4(ATM):c.5496+4A>G
|
rs1565479590
|
|
NM_000051.4(ATM):c.5496A>G (p.Glu1832=)
|
rs1591713080
|
|
NM_000051.4(ATM):c.5497-3T>A
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-3T>C
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-4dup
|
rs2083589744
|
|
NM_000051.4(ATM):c.5497G>A (p.Val1833Met)
|
rs2135942364
|
|
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)
|
|
|
NM_000051.4(ATM):c.549T>A (p.His183Gln)
|
rs1591499967
|
|
NM_000051.4(ATM):c.549T>G (p.His183Gln)
|
rs1591499967
|
|
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser)
|
rs2135942516
|
|
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
|
|
|
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn)
|
rs2135942560
|
|
NM_000051.4(ATM):c.5506G>C (p.Asp1836His)
|
rs2135942560
|
|
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val)
|
rs1555107256
|
|
NM_000051.4(ATM):c.5509T>C (p.Phe1837Leu)
|
|
|
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)
|
rs876660472
|
|
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)
|
rs1555066377
|
|
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.5513G>C (p.Cys1838Ser)
|
|
|
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)
|
|
|
NM_000051.4(ATM):c.551G>A (p.Arg184Lys)
|
rs2135223542
|
|
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile)
|
rs1565481593
|
|
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg)
|
rs1060501619
|
|
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.5531A>C (p.Tyr1844Ser)
|
rs876658907
|
|
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe)
|
rs587779849
|
|
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
|
|
|
NM_000051.4(ATM):c.5539C>G (p.His1847Asp)
|
rs1591717732
|
|
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
|
|
|
NM_000051.4(ATM):c.5540A>G (p.His1847Arg)
|
rs2083593874
|
|
NM_000051.4(ATM):c.5542G>C (p.Asp1848His)
|
rs2135943397
|
|
NM_000051.4(ATM):c.5542_5544del (p.Asp1848del)
|
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
NM_000051.4(ATM):c.5550A>C (p.Leu1850Phe)
|
|
|
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val)
|
rs200842502
|
|
NM_000051.4(ATM):c.5552T>A (p.Leu1851His)
|
rs2135943595
|
|
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro)
|
rs2135943595
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)
|
|
|
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
|
|
|
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile)
|
rs138710254
|
|
NM_000051.4(ATM):c.5564A>C (p.Asn1855Thr)
|
|
|
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.5570C>T (p.Ser1857Leu)
|
|
|
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg)
|
rs2083597320
|
|
NM_000051.4(ATM):c.5575A>G (p.Arg1859Gly)
|
rs1565481925
|
|
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.5579A>G (p.Asn1860Ser)
|
rs2083597981
|
|
NM_000051.4(ATM):c.557T>C (p.Leu186Ser)
|
rs1555066388
|
|
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys)
|
rs2083598099
|
|
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met)
|
rs1314298685
|
|
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val)
|
rs149362482
|
|
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe)
|
rs149362482
|
|
NM_000051.4(ATM):c.5585T>A (p.Leu1862His)
|
rs1555107424
|
|
NM_000051.4(ATM):c.5585T>C (p.Leu1862Pro)
|
rs1555107424
|
|
NM_000051.4(ATM):c.558A>C (p.Leu186Phe)
|
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.5593C>A (p.His1865Asn)
|
rs567908537
|
|
NM_000051.4(ATM):c.5594A>G (p.His1865Arg)
|
rs876659963
|
|
NM_000051.4(ATM):c.5595T>A (p.His1865Gln)
|
rs772261410
|
|
NM_000051.4(ATM):c.5595T>G (p.His1865Gln)
|
rs772261410
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly)
|
rs2083600177
|
|
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys)
|
rs2135944782
|
|
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu)
|
rs2135944782
|
|
NM_000051.4(ATM):c.559G>A (p.Val187Met)
|
rs1060501614
|
|
NM_000051.4(ATM):c.559G>T (p.Val187Leu)
|
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.5602G>A (p.Gly1868Arg)
|
rs1565482078
|
|
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu)
|
rs1565482084
|
|
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.5608T>C (p.Phe1870Leu)
|
|
|
NM_000051.4(ATM):c.5611A>G (p.Thr1871Ala)
|
|
|
NM_000051.4(ATM):c.5614A>G (p.Ser1872Gly)
|
rs2135945114
|
|
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)
|
rs761257154
|
|
NM_000051.4(ATM):c.5615G>C (p.Ser1872Thr)
|
rs761257154
|
|
NM_000051.4(ATM):c.5617T>A (p.Cys1873Ser)
|
rs2083601964
|
|
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe)
|
rs587782239
|
|
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>A (p.His1876Gln)
|
rs1237700879
|
|
NM_000051.4(ATM):c.562G>T (p.Ala188Ser)
|
rs1555066392
|
|
NM_000051.4(ATM):c.5631C>A (p.Phe1877Leu)
|
|
|
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)
|
|
|
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs)
|
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.5639C>A (p.Thr1880Lys)
|
rs587780628
|
|
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.5642G>C (p.Ser1881Thr)
|
rs2135945850
|
|
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro)
|
rs587782236
|
|
NM_000051.4(ATM):c.5645G>T (p.Arg1882Leu)
|
|
|
NM_000051.4(ATM):c.5648C>T (p.Ser1883Phe)
|
rs2083605154
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile)
|
rs1565482352
|
|
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile)
|
rs2083606342
|
|
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr)
|
rs2083606754
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly)
|
rs1297909613
|
|
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val)
|
rs1297909613
|
|
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met)
|
rs746106249
|
|
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
|
|
|
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu)
|
rs2135946592
|
|
NM_000051.4(ATM):c.5673A>G (p.Ser1891=)
|
rs1555107607
|
|
NM_000051.4(ATM):c.5675-10T>A
|
rs377599533
|
|
NM_000051.4(ATM):c.5675-2dup
|
rs2135975648
|
|
NM_000051.4(ATM):c.5675-3C>G
|
rs876658545
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp)
|
rs2135975691
|
|
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
|
|
|
NM_000051.4(ATM):c.567A>T (p.Arg189Ser)
|
rs1555066398
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
NM_000051.4(ATM):c.5683C>G (p.His1895Asp)
|
rs766901049
|
|
NM_000051.4(ATM):c.5684A>C (p.His1895Pro)
|
rs2135975923
|
|
NM_000051.4(ATM):c.5686T>G (p.Phe1896Val)
|
rs1565485959
|
|
NM_000051.4(ATM):c.568A>G (p.Ile190Val)
|
rs1565369501
|
|
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys)
|
rs587782516
|
|
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.5698T>G (p.Cys1900Gly)
|
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.5703G>T (p.Leu1901Phe)
|
rs756979112
|
|
NM_000051.4(ATM):c.5704G>A (p.Asp1902Asn)
|
rs1565486050
|
|
NM_000051.4(ATM):c.5704G>T (p.Asp1902Tyr)
|
rs1565486050
|
|
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly)
|
rs1565486057
|
|
NM_000051.4(ATM):c.5705A>T (p.Asp1902Val)
|
|
|
NM_000051.4(ATM):c.5708A>G (p.Lys1903Arg)
|
rs2083818567
|
|
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg)
|
rs1591732095
|
|
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly)
|
rs2083819737
|
|
NM_000051.4(ATM):c.5722A>G (p.Thr1908Ala)
|
|
|
NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg)
|
rs2135977089
|
|
NM_000051.4(ATM):c.5723C>T (p.Thr1908Ile)
|
rs2135977089
|
|
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys)
|
rs542378165
|
|
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.5728C>G (p.Leu1910Val)
|
rs143577586
|
|
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe)
|
rs143577586
|
|
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro)
|
rs2135977294
|
|
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro)
|
rs2135977350
|
|
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly)
|
rs1060501688
|
|
NM_000051.4(ATM):c.573T>G (p.Ile191Met)
|
rs775003417
|
|
NM_000051.4(ATM):c.5741A>G (p.Asp1914Gly)
|
|
|
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His)
|
rs2135977706
|
|
NM_000051.4(ATM):c.5746A>T (p.Met1916Leu)
|
rs910274159
|
|
NM_000051.4(ATM):c.5748G>A (p.Met1916Ile)
|
rs2083822362
|
|
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.5755C>G (p.Gln1919Glu)
|
rs2083823146
|
|
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro)
|
rs1565486302
|
|
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg)
|
rs2135978116
|
|
NM_000051.4(ATM):c.575A>G (p.His192Arg)
|
rs1555066411
|
|
NM_000051.4(ATM):c.575A>T (p.His192Leu)
|
|
|
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly)
|
rs1060501527
|
|
NM_000051.4(ATM):c.5762+3A>T
|
|
|
NM_000051.4(ATM):c.5762+3_5762+4del
|
|
|
NM_000051.4(ATM):c.5762+8A>C
|
rs2083824504
|
|
NM_000051.4(ATM):c.576T>G (p.His192Gln)
|
rs2079702502
|
|
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)
|
rs876659832
|
|
NM_000051.4(ATM):c.578C>G (p.Ala193Gly)
|
rs1064793928
|
|
NM_000051.4(ATM):c.581T>C (p.Val194Ala)
|
rs2135224694
|
|
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
|
|
|
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)
|
rs1196611507
|
|
NM_000051.4(ATM):c.586A>C (p.Lys196Gln)
|
rs2079703283
|
|
NM_000051.4(ATM):c.587A>G (p.Lys196Arg)
|
|
|
NM_000051.4(ATM):c.588A>G (p.Lys196=)
|
rs2135224945
|
|
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.594C>G (p.Cys198Trp)
|
rs1591500282
|
|
NM_000051.4(ATM):c.595T>C (p.Cys199Arg)
|
rs1591500295
|
|
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr)
|
rs879254127
|
|
NM_000051.4(ATM):c.597T>G (p.Cys199Trp)
|
rs1565369633
|
|
NM_000051.4(ATM):c.599C>G (p.Ser200Cys)
|
rs1060501562
|
|
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)
|
rs2078809726
|
|
NM_000051.4(ATM):c.605C>T (p.Thr202Ile)
|
rs1555066438
|
|
NM_000051.4(ATM):c.607G>A (p.Asp203Asn)
|
rs1591500372
|
|
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
|
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
NM_000051.4(ATM):c.61A>C (p.Thr21Pro)
|
|
|
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.623A>G (p.Lys208Arg)
|
rs2135226282
|
|
NM_000051.4(ATM):c.629T>C (p.Leu210Ser)
|
rs2079706543
|
|
NM_000051.4(ATM):c.62C>A (p.Thr21Lys)
|
|
|
NM_000051.4(ATM):c.62C>G (p.Thr21Arg)
|
|
|
NM_000051.4(ATM):c.62C>T (p.Thr21Ile)
|
rs1442769051
|
|
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.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
NM_000051.4(ATM):c.643A>G (p.Lys215Glu)
|
rs2079708238
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
|
|
|
NM_000051.4(ATM):c.645G>A (p.Lys215=)
|
rs2079708544
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
NM_000051.4(ATM):c.647C>T (p.Ala216Val)
|
rs2135227079
|
|
NM_000051.4(ATM):c.649A>C (p.Ile217Leu)
|
rs547045780
|
|
NM_000051.4(ATM):c.649A>T (p.Ile217Phe)
|
rs547045780
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)
|
|
|
NM_000051.4(ATM):c.653A>C (p.Gln218Pro)
|
rs1198686265
|
|
NM_000051.4(ATM):c.653A>G (p.Gln218Arg)
|
rs1198686265
|
|
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
|
|
|
NM_000051.4(ATM):c.658G>A (p.Ala220Thr)
|
rs2135227395
|
|
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
|
|
|
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
|
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
NM_000051.4(ATM):c.662+3A>C
|
|
|
NM_000051.4(ATM):c.662+3A>G
|
rs2135227609
|
|
NM_000051.4(ATM):c.662+4A>G
|
rs1555066570
|
|
NM_000051.4(ATM):c.662+5T>C
|
rs2079711059
|
|
NM_000051.4(ATM):c.662+6C>G
|
rs1565369978
|
|
NM_000051.4(ATM):c.662G>A (p.Arg221Lys)
|
rs776349773
|
|
NM_000051.4(ATM):c.663-12_663-9del
|
|
|
NM_000051.4(ATM):c.663-13T>C
|
|
|
NM_000051.4(ATM):c.663-3C>G
|
rs2079752506
|
|
NM_000051.4(ATM):c.663-3C>T
|
rs2079752506
|
|
NM_000051.4(ATM):c.663-5C>T
|
rs1591503207
|
|
NM_000051.4(ATM):c.663A>G (p.Arg221=)
|
rs1555066913
|
|
NM_000051.4(ATM):c.663A>T (p.Arg221Ser)
|
rs1555066913
|
|
NM_000051.4(ATM):c.664C>G (p.Gln222Glu)
|
rs1555066917
|
|
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
|
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
NM_000051.4(ATM):c.673A>C (p.Ser225Arg)
|
rs2079753846
|
|
NM_000051.4(ATM):c.675C>A (p.Ser225Arg)
|
rs1555066940
|
|
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
|
|
|
NM_000051.4(ATM):c.677C>T (p.Ser226Phe)
|
rs2079754211
|
|
NM_000051.4(ATM):c.67C>G (p.Arg23Gly)
|
rs746235533
|
|
NM_000051.4(ATM):c.683G>A (p.Gly228Asp)
|
rs2079754821
|
|
NM_000051.4(ATM):c.683G>C (p.Gly228Ala)
|
rs2079754821
|
|
NM_000051.4(ATM):c.689A>G (p.Asn230Ser)
|
rs876659494
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.68G>C (p.Arg23Pro)
|
rs587779858
|
|
NM_000051.4(ATM):c.691C>G (p.His231Asp)
|
rs1460757633
|
|
NM_000051.4(ATM):c.692A>C (p.His231Pro)
|
rs587782229
|
|
NM_000051.4(ATM):c.692A>T (p.His231Leu)
|
rs587782229
|
|
NM_000051.4(ATM):c.694A>G (p.Ile232Val)
|
rs767739747
|
|
NM_000051.4(ATM):c.695T>A (p.Ile232Asn)
|
|
|
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.696C>G (p.Ile232Met)
|
rs1591503507
|
|
NM_000051.4(ATM):c.699A>T (p.Leu233Phe)
|
rs1555067006
|
|
NM_000051.4(ATM):c.6T>A (p.Ser2Arg)
|
rs748158168
|
|
NM_000051.4(ATM):c.700G>T (p.Ala234Ser)
|
|
|
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
|
|
|
NM_000051.4(ATM):c.703G>C (p.Ala235Pro)
|
rs76379269
|
|
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
|
|
|
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>G (p.Leu236Arg)
|
rs876659813
|
|
NM_000051.4(ATM):c.709A>T (p.Thr237Ser)
|
rs376529329
|
|
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)
|
|
|
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
|
|
|
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
|
|
|
NM_000051.4(ATM):c.713T>A (p.Ile238Asn)
|
rs149116878
|
|
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.72+3A>C
|
rs2135007098
|
|
NM_000051.4(ATM):c.72+4G>A
|
rs1458884973
|
|
NM_000051.4(ATM):c.724A>G (p.Thr242Ala)
|
rs1555067068
|
|
NM_000051.4(ATM):c.725C>A (p.Thr242Asn)
|
rs2135238871
|
|
NM_000051.4(ATM):c.73-3C>T
|
rs1555054039
|
|
NM_000051.4(ATM):c.73-3del
|
rs1565344403
|
|
NM_000051.4(ATM):c.730G>A (p.Ala244Thr)
|
rs2079760518
|
|
NM_000051.4(ATM):c.730G>C (p.Ala244Pro)
|
rs2079760518
|
|
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.739T>A (p.Phe247Ile)
|
rs2135239339
|
|
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
|
|
|
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
|
|
|
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.745A>G (p.Ile249Val)
|
rs1060501636
|
|
NM_000051.4(ATM):c.749G>C (p.Arg250Pro)
|
rs56123940
|
|
NM_000051.4(ATM):c.74A>G (p.Lys25Arg)
|
rs751310537
|
|
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>C (p.Val251Ala)
|
rs1591503977
|
|
NM_000051.4(ATM):c.752T>G (p.Val251Gly)
|
rs1591503977
|
|
NM_000051.4(ATM):c.757G>A (p.Glu253Lys)
|
rs2135239944
|
|
NM_000051.4(ATM):c.758A>G (p.Glu253Gly)
|
rs2079763142
|
|
NM_000051.4(ATM):c.75A>G (p.Lys25=)
|
rs1591446716
|
|
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
|
|
|
NM_000051.4(ATM):c.763G>C (p.Gly255Arg)
|
rs770911662
|
|
NM_000051.4(ATM):c.764_766del (p.Gly255del)
|
rs766716803
|
|
NM_000051.4(ATM):c.766G>A (p.Asp256Asn)
|
rs2079764061
|
|
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr)
|
rs2079764061
|
|
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.769G>C (p.Glu257Gln)
|
rs1565371596
|
|
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)
|
|
|
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
|
|
|
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
|
|
|
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)
|
rs863224581
|
|
NM_000051.4(ATM):c.778C>G (p.Pro260Ala)
|
rs863224581
|
|
NM_000051.4(ATM):c.779C>A (p.Pro260His)
|
rs961262202
|
|
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)
|
rs961262202
|
|
NM_000051.4(ATM):c.77A>G (p.Glu26Gly)
|
rs1555054052
|
|
NM_000051.4(ATM):c.781A>T (p.Thr261Ser)
|
rs786203410
|
|
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
|
|
|
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.788T>A (p.Leu263His)
|
rs2079765536
|
|
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
|
|
|
NM_000051.4(ATM):c.790T>C (p.Tyr264His)
|
|
|
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
|
|
|
NM_000051.4(ATM):c.793A>G (p.Ile265Val)
|
rs587781973
|
|
NM_000051.4(ATM):c.795T>G (p.Ile265Met)
|
rs1290222131
|
|
NM_000051.4(ATM):c.798G>T (p.Trp266Cys)
|
rs2079766417
|
|
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.805C>T (p.His269Tyr)
|
rs1591504278
|
|
NM_000051.4(ATM):c.806A>G (p.His269Arg)
|
rs1565371740
|
|
NM_000051.4(ATM):c.806A>T (p.His269Leu)
|
|
|
NM_000051.4(ATM):c.807T>G (p.His269Gln)
|
rs2135241561
|
|
NM_000051.4(ATM):c.808A>G (p.Arg270Gly)
|
rs2135241589
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
NM_000051.4(ATM):c.80T>A (p.Val27Asp)
|
rs2078817440
|
|
NM_000051.4(ATM):c.80T>C (p.Val27Ala)
|
rs2078817440
|
|
NM_000051.4(ATM):c.810G>C (p.Arg270Ser)
|
rs1565371772
|
|
NM_000051.4(ATM):c.811C>G (p.Leu271Val)
|
rs730881339
|
|
NM_000051.4(ATM):c.811C>T (p.Leu271Phe)
|
rs730881339
|
|
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)
|
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
NM_000051.4(ATM):c.814A>C (p.Asn272His)
|
rs1565371810
|
|
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
|
|
|
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.820T>G (p.Ser274Ala)
|
rs2079767927
|
|
NM_000051.4(ATM):c.821C>A (p.Ser274Tyr)
|
|
|
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)
|
rs1591504377
|
|
NM_000051.4(ATM):c.821C>T (p.Ser274Phe)
|
rs1591504377
|
|
NM_000051.4(ATM):c.825A>T (p.Leu275Phe)
|
rs2135242080
|
|
NM_000051.4(ATM):c.826A>C (p.Lys276Gln)
|
rs587782902
|
|
NM_000051.4(ATM):c.826A>G (p.Lys276Glu)
|
rs587782902
|
|
NM_000051.4(ATM):c.830A>G (p.Glu277Gly)
|
rs2079768905
|
|
NM_000051.4(ATM):c.832G>A (p.Val278Ile)
|
rs761005590
|
|
NM_000051.4(ATM):c.832G>T (p.Val278Phe)
|
rs761005590
|
|
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.835ATT[1] (p.Ile280del)
|
|
|
NM_000051.4(ATM):c.838A>G (p.Ile280Val)
|
rs764048041
|
|
NM_000051.4(ATM):c.841G>A (p.Glu281Lys)
|
rs1591504491
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.847T>G (p.Phe283Val)
|
rs1591504549
|
|
NM_000051.4(ATM):c.849T>A (p.Phe283Leu)
|
rs1060501617
|
|
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.856C>A (p.Gln286Lys)
|
|
|
NM_000051.4(ATM):c.857A>C (p.Gln286Pro)
|
rs1591504622
|
|
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000051.4(ATM):c.865A>C (p.Ile289Leu)
|
rs1555067259
|
|
NM_000051.4(ATM):c.865A>G (p.Ile289Val)
|
rs1555067259
|
|
NM_000051.4(ATM):c.866T>C (p.Ile289Thr)
|
rs35261362
|
|
NM_000051.4(ATM):c.868C>A (p.His290Asn)
|
rs1591504685
|
|
NM_000051.4(ATM):c.868C>T (p.His290Tyr)
|
rs1591504685
|
|
NM_000051.4(ATM):c.869A>C (p.His290Pro)
|
rs2135243301
|
|
NM_000051.4(ATM):c.869A>G (p.His290Arg)
|
rs2135243301
|
|
NM_000051.4(ATM):c.869ATC[1] (p.His291del)
|
rs2135243288
|
|
NM_000051.4(ATM):c.870T>G (p.His290Gln)
|
|
|
NM_000051.4(ATM):c.871C>G (p.His291Asp)
|
rs1555067280
|
|
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
|
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
|
|
|
NM_000051.4(ATM):c.875C>G (p.Pro292Arg)
|
rs747727055
|
|
NM_000051.4(ATM):c.879A>G (p.Lys293=)
|
rs864622069
|
|
NM_000051.4(ATM):c.881G>A (p.Gly294Glu)
|
rs1370428326
|
|
NM_000051.4(ATM):c.884C>T (p.Ala295Val)
|
rs1044092081
|
|
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.888A>C (p.Lys296Asn)
|
rs1023530965
|
|
NM_000051.4(ATM):c.88T>A (p.Phe30Ile)
|
rs2078817952
|
|
NM_000051.4(ATM):c.893A>C (p.Gln298Pro)
|
rs2079775401
|
|
NM_000051.4(ATM):c.896A>G (p.Glu299Gly)
|
rs587779876
|
|
NM_000051.4(ATM):c.896A>T (p.Glu299Val)
|
rs587779876
|
|
NM_000051.4(ATM):c.89T>A (p.Phe30Tyr)
|
rs876658520
|
|
NM_000051.4(ATM):c.89T>G (p.Phe30Cys)
|
rs876658520
|
|
NM_000051.4(ATM):c.8T>C (p.Leu3Pro)
|
rs1555053861
|
|
NM_000051.4(ATM):c.901+10A>T
|
rs2135244818
|
|
NM_000051.4(ATM):c.901+3A>G
|
rs786203070
|
|
NM_000051.4(ATM):c.901+4T>A
|
|
|
NM_000051.4(ATM):c.901+4T>G
|
rs1591504958
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)
|
rs1064797160
|
|
NM_000051.4(ATM):c.902-3C>A
|
|
|
NM_000051.4(ATM):c.902-3C>T
|
|
|
NM_000051.4(ATM):c.902-9G>A
|
|
|
NM_000051.4(ATM):c.902G>T (p.Gly301Val)
|
rs202208861
|
|
NM_000051.4(ATM):c.905C>T (p.Ala302Val)
|
rs778442248
|
|
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
|
|
|
NM_000051.4(ATM):c.911A>C (p.Glu304Ala)
|
rs2135264712
|
|
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
|
|
|
NM_000051.4(ATM):c.916A>G (p.Thr306Ala)
|
rs1555068304
|
|
NM_000051.4(ATM):c.917C>A (p.Thr306Lys)
|
rs1565374923
|
|
NM_000051.4(ATM):c.917C>T (p.Thr306Ile)
|
rs1565374923
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
NM_000051.4(ATM):c.922T>A (p.Trp308Arg)
|
rs2079878501
|
|
NM_000051.4(ATM):c.922T>C (p.Trp308Arg)
|
rs2079878501
|
|
NM_000051.4(ATM):c.925A>G (p.Arg309Gly)
|
rs876659841
|
|
NM_000051.4(ATM):c.926G>A (p.Arg309Lys)
|
|
|
NM_000051.4(ATM):c.926G>T (p.Arg309Ile)
|
|
|
NM_000051.4(ATM):c.927A>C (p.Arg309Ser)
|
|
|
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)
|
rs935834518
|
|
NM_000051.4(ATM):c.928A>C (p.Ser310Arg)
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000051.4(ATM):c.929G>A (p.Ser310Asn)
|
rs2079879169
|
|
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.93G>C (p.Lys31Asn)
|
rs863224583
|
|
NM_000051.4(ATM):c.940A>C (p.Asn314His)
|
rs2079880133
|
|
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)
|
rs886047610
|
|
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn)
|
rs142317485
|
|
NM_000051.4(ATM):c.949G>C (p.Asp317His)
|
|
|
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.951T>G (p.Asp317Glu)
|
rs876659199
|
|
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
|
|
|
NM_000051.4(ATM):c.954_956del (p.Leu319del)
|
rs2135266014
|
|
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)
|
|
|
NM_000051.4(ATM):c.959T>A (p.Val320Glu)
|
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
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.968T>A (p.Ile323Lys)
|
rs2079882407
|
|
NM_000051.4(ATM):c.968T>G (p.Ile323Arg)
|
rs2079882407
|
|
NM_000051.4(ATM):c.969A>G (p.Ile323Met)
|
rs1565375220
|
|
NM_000051.4(ATM):c.971G>A (p.Ser324Asn)
|
rs1355502804
|
|
NM_000051.4(ATM):c.974A>C (p.His325Pro)
|
rs1565375244
|
|
NM_000051.4(ATM):c.974A>G (p.His325Arg)
|
rs1565375244
|
|
NM_000051.4(ATM):c.974A>T (p.His325Leu)
|
rs1565375244
|
|
NM_000051.4(ATM):c.975T>A (p.His325Gln)
|
rs746825207
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
NM_000051.4(ATM):c.978A>G (p.Ile326Met)
|
rs1555068424
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NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
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NM_000051.4(ATM):c.980G>A (p.Gly327Glu)
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rs1591510902
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NM_000051.4(ATM):c.982A>C (p.Ser328Arg)
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rs1555068433
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NM_000051.4(ATM):c.982A>G (p.Ser328Gly)
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rs1555068433
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NM_000051.4(ATM):c.983G>A (p.Ser328Asn)
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rs2135267189
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NM_000051.4(ATM):c.984_986del (p.Ser328del)
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rs876659593
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NM_000051.4(ATM):c.985A>G (p.Arg329Gly)
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rs1591510933
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NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
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rs776938735
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NM_000051.4(ATM):c.986G>C (p.Arg329Thr)
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rs776938735
|
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NM_000051.4(ATM):c.986G>T (p.Arg329Ile)
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|
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NM_000051.4(ATM):c.988G>A (p.Gly330Arg)
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rs2135267332
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NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
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rs762179829
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NM_000051.4(ATM):c.98T>C (p.Leu33Pro)
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rs2078818941
|
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NM_000051.4(ATM):c.991A>G (p.Lys331Glu)
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rs1555068451
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NM_000051.4(ATM):c.992A>T (p.Lys331Met)
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rs2079885179
|
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NM_000051.4(ATM):c.993G>T (p.Lys331Asn)
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rs786202048
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NM_000051.4(ATM):c.995A>G (p.Tyr332Cys)
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rs1060501664
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NM_000051.4(ATM):c.995A>T (p.Tyr332Phe)
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rs1060501664
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