NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000051.4(ATM):c.8418+13C>T
|
rs372552946
|
0.00041
|
NM_000051.4(ATM):c.4109+54A>T
|
rs181020146
|
0.00040
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.2251-19T>C
|
rs370713089
|
0.00024
|
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.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000051.4(ATM):c.7629+146A>G
|
rs769608929
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000051.4(ATM):c.2839-18T>C
|
rs553155942
|
0.00012
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)
|
rs369940136
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000051.4(ATM):c.8154C>T (p.Gly2718=)
|
rs371021126
|
0.00011
|
NM_000051.4(ATM):c.6572+11C>T
|
rs368049107
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000051.4(ATM):c.7789-15G>C
|
rs781449587
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000051.4(ATM):c.1911A>G (p.Gln637=)
|
rs764790965
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4237-71A>G
|
rs45547832
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)
|
rs781383087
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
NM_000051.4(ATM):c.3284+16T>G
|
rs376541962
|
0.00008
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
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.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.1887C>T (p.Ser629=)
|
rs143097772
|
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.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.3639T>C (p.His1213=)
|
rs142766756
|
0.00006
|
NM_000051.4(ATM):c.3993+18A>G
|
rs201171518
|
0.00006
|
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)
|
rs786203726
|
0.00006
|
NM_000051.4(ATM):c.5005+17C>G
|
rs200688912
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.6096-14A>G
|
rs184029731
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.6486C>T (p.Ser2162=)
|
rs138166710
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)
|
rs562264493
|
0.00006
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
NM_000051.4(ATM):c.4437-14T>C
|
rs900984301
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.5005+14A>T
|
rs374337879
|
0.00005
|
NM_000051.4(ATM):c.5675-13T>A
|
rs373219694
|
0.00005
|
NM_000051.4(ATM):c.6573-16A>G
|
rs764506673
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000051.4(ATM):c.861T>C (p.Ile287=)
|
rs55849405
|
0.00005
|
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.1608-19G>T
|
rs773158102
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.2124+13A>T
|
rs199648955
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.2958T>G (p.Val986=)
|
rs745971584
|
0.00004
|
NM_000051.4(ATM):c.3012C>T (p.Ser1004=)
|
rs751260996
|
0.00004
|
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=)
|
rs780240314
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)
|
rs780192529
|
0.00004
|
NM_000051.4(ATM):c.3994-7C>T
|
rs769346400
|
0.00004
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
NM_000051.4(ATM):c.510G>A (p.Val170=)
|
rs375682557
|
0.00004
|
NM_000051.4(ATM):c.5496+11T>C
|
rs751491395
|
0.00004
|
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)
|
rs540054724
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)
|
rs770321620
|
0.00004
|
NM_000051.4(ATM):c.7890A>G (p.Leu2630=)
|
rs756181210
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
NM_000051.4(ATM):c.8786+20G>C
|
rs56283878
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.2013A>T (p.Ile671=)
|
rs1371341017
|
0.00003
|
NM_000051.4(ATM):c.2151G>C (p.Arg717=)
|
rs1331738032
|
0.00003
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.2638+9A>G
|
rs761592414
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.3373T>C (p.Leu1125=)
|
rs775277598
|
0.00003
|
NM_000051.4(ATM):c.3402+10A>C
|
rs919002854
|
0.00003
|
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)
|
rs748055132
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
NM_000051.4(ATM):c.496+18T>A
|
rs762171014
|
0.00003
|
NM_000051.4(ATM):c.496+20G>C
|
rs751245102
|
0.00003
|
NM_000051.4(ATM):c.5005+7T>C
|
rs527286038
|
0.00003
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
NM_000051.4(ATM):c.6219C>T (p.Leu2073=)
|
rs752478345
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6452+17A>G
|
rs371044809
|
0.00003
|
NM_000051.4(ATM):c.6453-15C>A
|
rs763296454
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)
|
rs143715818
|
0.00003
|
NM_000051.4(ATM):c.6636C>T (p.Leu2212=)
|
rs876659563
|
0.00003
|
NM_000051.4(ATM):c.6678A>G (p.Leu2226=)
|
rs772173373
|
0.00003
|
NM_000051.4(ATM):c.6807+20A>G
|
rs369001797
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)
|
rs768906734
|
0.00003
|
NM_000051.4(ATM):c.7431A>T (p.Gly2477=)
|
rs1158876832
|
0.00003
|
NM_000051.4(ATM):c.7516-17del
|
rs1223140309
|
0.00003
|
NM_000051.4(ATM):c.7516-19_7516-18insAA
|
rs1361261201
|
0.00003
|
NM_000051.4(ATM):c.7927+10T>C
|
rs730881277
|
0.00003
|
NM_000051.4(ATM):c.7989T>C (p.Val2663=)
|
rs774232968
|
0.00003
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
NM_000051.4(ATM):c.8152-6C>T
|
rs200389039
|
0.00003
|
NM_000051.4(ATM):c.8248T>C (p.Leu2750=)
|
rs876658559
|
0.00003
|
NM_000051.4(ATM):c.8419-16_8419-13del
|
rs774275044
|
0.00003
|
NM_000051.4(ATM):c.8851-19A>G
|
rs772496794
|
0.00003
|
NM_000051.4(ATM):c.8964C>T (p.Asp2988=)
|
rs969795398
|
0.00003
|
NM_000051.4(ATM):c.1065+17A>C
|
rs373230921
|
0.00002
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
NM_000051.4(ATM):c.1235+20T>G
|
rs762656752
|
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.1392G>A (p.Leu464=)
|
rs760191806
|
0.00002
|
NM_000051.4(ATM):c.1596C>T (p.Cys532=)
|
rs564050785
|
0.00002
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
NM_000051.4(ATM):c.1707C>T (p.Ser569=)
|
rs1381837075
|
0.00002
|
NM_000051.4(ATM):c.1947A>G (p.Glu649=)
|
rs1032244771
|
0.00002
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
NM_000051.4(ATM):c.2124+14A>G
|
rs772719886
|
0.00002
|
NM_000051.4(ATM):c.2619A>G (p.Gly873=)
|
rs777979257
|
0.00002
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
NM_000051.4(ATM):c.2638+8C>T
|
rs776116433
|
0.00002
|
NM_000051.4(ATM):c.2736G>A (p.Gln912=)
|
rs757305928
|
0.00002
|
NM_000051.4(ATM):c.2921+16C>A
|
rs558376224
|
0.00002
|
NM_000051.4(ATM):c.2922-8T>C
|
rs545892367
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3285-15C>T
|
rs770928986
|
0.00002
|
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)
|
rs587780543
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.3746+16A>T
|
rs1252299197
|
0.00002
|
NM_000051.4(ATM):c.3747-9T>C
|
rs760676626
|
0.00002
|
NM_000051.4(ATM):c.381A>G (p.Thr127=)
|
rs762582522
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.4476C>T (p.Ser1492=)
|
rs780236656
|
0.00002
|
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)
|
rs769071554
|
0.00002
|
NM_000051.4(ATM):c.4575A>T (p.Ile1525=)
|
rs781539071
|
0.00002
|
NM_000051.4(ATM):c.4612-17T>C
|
rs550966528
|
0.00002
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
NM_000051.4(ATM):c.4910-20T>G
|
rs773731240
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
NM_000051.4(ATM):c.5006-18T>A
|
rs768321973
|
0.00002
|
NM_000051.4(ATM):c.5319+8A>G
|
rs375051697
|
0.00002
|
NM_000051.4(ATM):c.5364C>T (p.Gly1788=)
|
rs780134093
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)
|
rs1057522721
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.5762+6G>A
|
rs776532221
|
0.00002
|
NM_000051.4(ATM):c.5817A>G (p.Leu1939=)
|
rs749652134
|
0.00002
|
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)
|
rs138987778
|
0.00002
|
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)
|
rs876658452
|
0.00002
|
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)
|
rs752478345
|
0.00002
|
NM_000051.4(ATM):c.6246A>G (p.Lys2082=)
|
rs745977589
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.6540A>G (p.Gly2180=)
|
rs767516615
|
0.00002
|
NM_000051.4(ATM):c.6573-17dup
|
rs1565517900
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)
|
rs1057520450
|
0.00002
|
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)
|
rs777164914
|
0.00002
|
NM_000051.4(ATM):c.7038A>T (p.Ala2346=)
|
rs146167034
|
0.00002
|
NM_000051.4(ATM):c.7515+20A>G
|
rs80124497
|
0.00002
|
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=)
|
rs772228129
|
0.00002
|
NM_000051.4(ATM):c.7788+19C>T
|
rs201990371
|
0.00002
|
NM_000051.4(ATM):c.8121C>T (p.Ser2707=)
|
rs770138283
|
0.00002
|
NM_000051.4(ATM):c.8151+11C>T
|
rs555381912
|
0.00002
|
NM_000051.4(ATM):c.8151+8T>C
|
rs768069197
|
0.00002
|
NM_000051.4(ATM):c.8164C>T (p.Leu2722=)
|
rs587782399
|
0.00002
|
NM_000051.4(ATM):c.8169A>G (p.Arg2723=)
|
rs780495319
|
0.00002
|
NM_000051.4(ATM):c.8268+6T>A
|
rs747153940
|
0.00002
|
NM_000051.4(ATM):c.8269-16T>C
|
rs375051442
|
0.00002
|
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)
|
rs538173062
|
0.00002
|
NM_000051.4(ATM):c.852A>G (p.Gln284=)
|
rs140367473
|
0.00002
|
NM_000051.4(ATM):c.8671+18T>C
|
rs763189977
|
0.00002
|
NM_000051.4(ATM):c.8786+11T>C
|
rs368627124
|
0.00002
|
NM_000051.4(ATM):c.8786+12G>A
|
rs767836309
|
0.00002
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
NM_000051.4(ATM):c.1023C>T (p.Val341=)
|
rs35728619
|
0.00001
|
NM_000051.4(ATM):c.1029A>G (p.Glu343=)
|
rs778388800
|
0.00001
|
NM_000051.4(ATM):c.1038T>A (p.Ile346=)
|
rs749950833
|
0.00001
|
NM_000051.4(ATM):c.1065+18T>A
|
rs774940342
|
0.00001
|
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)
|
rs376170600
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.1197C>T (p.His399=)
|
rs786201131
|
0.00001
|
NM_000051.4(ATM):c.1203G>A (p.Gln401=)
|
rs1214283617
|
0.00001
|
NM_000051.4(ATM):c.1206G>A (p.Lys402=)
|
rs776001057
|
0.00001
|
NM_000051.4(ATM):c.1209A>G (p.Ser403=)
|
rs1213832469
|
0.00001
|
NM_000051.4(ATM):c.1235+11dup
|
rs773187419
|
0.00001
|
NM_000051.4(ATM):c.1235+14A>G
|
rs776931625
|
0.00001
|
NM_000051.4(ATM):c.1235+5A>T
|
rs1064793679
|
0.00001
|
NM_000051.4(ATM):c.1236-8T>C
|
rs756160331
|
0.00001
|
NM_000051.4(ATM):c.1242G>A (p.Gln414=)
|
rs786203667
|
0.00001
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
NM_000051.4(ATM):c.1302A>G (p.Pro434=)
|
rs1555070715
|
0.00001
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
NM_000051.4(ATM):c.1317A>G (p.Leu439=)
|
rs1232968268
|
0.00001
|
NM_000051.4(ATM):c.1329A>C (p.Leu443=)
|
rs201460863
|
0.00001
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.1338G>A (p.Gln446=)
|
rs771673512
|
0.00001
|
NM_000051.4(ATM):c.1362T>C (p.Tyr454=)
|
rs1373614735
|
0.00001
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
NM_000051.4(ATM):c.1407G>A (p.Arg469=)
|
rs1555070912
|
0.00001
|
NM_000051.4(ATM):c.1410A>G (p.Ser470=)
|
rs939650649
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1455T>C (p.Asn485=)
|
rs1385019623
|
0.00001
|
NM_000051.4(ATM):c.1473C>G (p.Thr491=)
|
rs764937436
|
0.00001
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)
|
rs56365018
|
0.00001
|
NM_000051.4(ATM):c.1515T>C (p.Phe505=)
|
rs1057520521
|
0.00001
|
NM_000051.4(ATM):c.1536T>A (p.Ile512=)
|
rs1060504296
|
0.00001
|
NM_000051.4(ATM):c.153A>G (p.Gln51=)
|
rs2078823585
|
0.00001
|
NM_000051.4(ATM):c.1575G>A (p.Lys525=)
|
rs587780613
|
0.00001
|
NM_000051.4(ATM):c.1607+16A>G
|
rs1057522219
|
0.00001
|
NM_000051.4(ATM):c.1608-8T>C
|
rs201110707
|
0.00001
|
NM_000051.4(ATM):c.1614A>G (p.Ala538=)
|
rs876659636
|
0.00001
|
NM_000051.4(ATM):c.1641C>A (p.Thr547=)
|
rs864622141
|
0.00001
|
NM_000051.4(ATM):c.1656A>G (p.Pro552=)
|
rs1060504275
|
0.00001
|
NM_000051.4(ATM):c.1662G>A (p.Thr554=)
|
rs764646531
|
0.00001
|
NM_000051.4(ATM):c.1746C>T (p.Phe582=)
|
rs145629926
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
NM_000051.4(ATM):c.1802+20A>G
|
rs1009750697
|
0.00001
|
NM_000051.4(ATM):c.1802+7T>G
|
rs1057521381
|
0.00001
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
NM_000051.4(ATM):c.185+7T>C
|
rs143404880
|
0.00001
|
NM_000051.4(ATM):c.185+8A>G
|
rs753891198
|
0.00001
|
NM_000051.4(ATM):c.186-19G>A
|
rs748791429
|
0.00001
|
NM_000051.4(ATM):c.186-8T>C
|
rs1355404740
|
0.00001
|
NM_000051.4(ATM):c.1893A>G (p.Pro631=)
|
rs764702196
|
0.00001
|
NM_000051.4(ATM):c.1898+9T>C
|
rs1057520836
|
0.00001
|
NM_000051.4(ATM):c.1899-10T>G
|
rs763685190
|
0.00001
|
NM_000051.4(ATM):c.1899-11C>T
|
rs730881282
|
0.00001
|
NM_000051.4(ATM):c.1899-15C>A
|
rs759924007
|
0.00001
|
NM_000051.4(ATM):c.1899-9T>G
|
rs1591533635
|
0.00001
|
NM_000051.4(ATM):c.1929T>G (p.Leu643=)
|
rs876659911
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.2088A>G (p.Gly696=)
|
rs1555073469
|
0.00001
|
NM_000051.4(ATM):c.2124+16A>G
|
rs762709930
|
0.00001
|
NM_000051.4(ATM):c.2125-11T>A
|
rs1054208254
|
0.00001
|
NM_000051.4(ATM):c.2125-8A>G
|
rs757565418
|
0.00001
|
NM_000051.4(ATM):c.2175C>T (p.Val725=)
|
rs140110298
|
0.00001
|
NM_000051.4(ATM):c.2181C>T (p.Gly727=)
|
rs876658836
|
0.00001
|
NM_000051.4(ATM):c.2208T>C (p.Ala736=)
|
rs761874856
|
0.00001
|
NM_000051.4(ATM):c.2229A>G (p.Ser743=)
|
rs758453118
|
0.00001
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
NM_000051.4(ATM):c.2250+18A>G
|
rs895190150
|
0.00001
|
NM_000051.4(ATM):c.2250+20T>C
|
rs377570109
|
0.00001
|
NM_000051.4(ATM):c.2251-11A>G
|
rs755369461
|
0.00001
|
NM_000051.4(ATM):c.2251-7A>G
|
rs879254103
|
0.00001
|
NM_000051.4(ATM):c.2322T>C (p.Gly774=)
|
rs769575297
|
0.00001
|
NM_000051.4(ATM):c.2331A>G (p.Arg777=)
|
rs1313482346
|
0.00001
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
NM_000051.4(ATM):c.2376+16T>C
|
rs751221076
|
0.00001
|
NM_000051.4(ATM):c.2377-13G>C
|
rs1296989358
|
0.00001
|
NM_000051.4(ATM):c.2377-18T>C
|
rs761207086
|
0.00001
|
NM_000051.4(ATM):c.2377-19T>G
|
rs775771700
|
0.00001
|
NM_000051.4(ATM):c.2379G>A (p.Lys793=)
|
rs1333875379
|
0.00001
|
NM_000051.4(ATM):c.2419T>C (p.Leu807=)
|
rs1555076667
|
0.00001
|
NM_000051.4(ATM):c.2466+19T>G
|
rs374249638
|
0.00001
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
NM_000051.4(ATM):c.2467-12T>G
|
rs1469467036
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2467-9T>A
|
rs1555082040
|
0.00001
|
NM_000051.4(ATM):c.246A>G (p.Val82=)
|
rs757944864
|
0.00001
|
NM_000051.4(ATM):c.2475C>T (p.Phe825=)
|
rs776907383
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2550G>A (p.Glu850=)
|
rs1399925352
|
0.00001
|
NM_000051.4(ATM):c.2571A>G (p.Leu857=)
|
rs1191404395
|
0.00001
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.261A>G (p.Gln87=)
|
rs2078887941
|
0.00001
|
NM_000051.4(ATM):c.2639-18A>G
|
rs1555083057
|
0.00001
|
NM_000051.4(ATM):c.2639-7T>C
|
rs912886321
|
0.00001
|
NM_000051.4(ATM):c.2639-9T>G
|
rs1457466709
|
0.00001
|
NM_000051.4(ATM):c.2688T>C (p.Leu896=)
|
rs769490863
|
0.00001
|
NM_000051.4(ATM):c.2712G>A (p.Leu904=)
|
rs1409179618
|
0.00001
|
NM_000051.4(ATM):c.2716T>C (p.Leu906=)
|
rs368047468
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.2838+13A>G
|
rs778502800
|
0.00001
|
NM_000051.4(ATM):c.2838+20G>A
|
rs1310769991
|
0.00001
|
NM_000051.4(ATM):c.2838+8dup
|
rs1364656453
|
0.00001
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
0.00001
|
NM_000051.4(ATM):c.2839-16C>T
|
rs761953913
|
0.00001
|
NM_000051.4(ATM):c.2859G>A (p.Glu953=)
|
rs569489729
|
0.00001
|
NM_000051.4(ATM):c.2862T>C (p.Leu954=)
|
rs1426256662
|
0.00001
|
NM_000051.4(ATM):c.2921+15C>A
|
rs1057521619
|
0.00001
|
NM_000051.4(ATM):c.2922-20T>G
|
rs768172184
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
NM_000051.4(ATM):c.2940T>C (p.Tyr980=)
|
rs748119565
|
0.00001
|
NM_000051.4(ATM):c.2970T>C (p.Ile990=)
|
rs2081569239
|
0.00001
|
NM_000051.4(ATM):c.3003A>G (p.Leu1001=)
|
rs765969190
|
0.00001
|
NM_000051.4(ATM):c.3030C>T (p.Asn1010=)
|
rs876660913
|
0.00001
|
NM_000051.4(ATM):c.3077+8C>G
|
rs752601608
|
0.00001
|
NM_000051.4(ATM):c.3078-11C>T
|
rs756972430
|
0.00001
|
NM_000051.4(ATM):c.3099A>G (p.Lys1033=)
|
rs1813895840
|
0.00001
|
NM_000051.4(ATM):c.309C>T (p.Tyr103=)
|
rs777499935
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3114A>T (p.Val1038=)
|
rs374451781
|
0.00001
|
NM_000051.4(ATM):c.3126A>G (p.Leu1042=)
|
rs770038542
|
0.00001
|
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)
|
rs1430714562
|
0.00001
|
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)
|
rs3092858
|
0.00001
|
NM_000051.4(ATM):c.3153+11G>A
|
rs760086749
|
0.00001
|
NM_000051.4(ATM):c.3153+18T>C
|
rs1555085921
|
0.00001
|
NM_000051.4(ATM):c.3154-11T>C
|
rs748543045
|
0.00001
|
NM_000051.4(ATM):c.3154-16A>G
|
rs556888479
|
0.00001
|
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=)
|
rs768038217
|
0.00001
|
NM_000051.4(ATM):c.3189A>G (p.Val1063=)
|
rs76122065
|
0.00001
|
NM_000051.4(ATM):c.3216A>G (p.Glu1072=)
|
rs373699194
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3283A>C (p.Arg1095=)
|
rs876660302
|
0.00001
|
NM_000051.4(ATM):c.3284+6G>C
|
rs1228954245
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3285-19T>C
|
rs749167327
|
0.00001
|
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)
|
rs925487325
|
0.00001
|
NM_000051.4(ATM):c.331+10G>A
|
rs755557468
|
0.00001
|
NM_000051.4(ATM):c.331+7G>A
|
rs1184757004
|
0.00001
|
NM_000051.4(ATM):c.3330A>G (p.Ala1110=)
|
rs1009383081
|
0.00001
|
NM_000051.4(ATM):c.3333T>G (p.Leu1111=)
|
rs750932338
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3351A>G (p.Gln1117=)
|
rs777375945
|
0.00001
|
NM_000051.4(ATM):c.3402+14A>C
|
rs200494541
|
0.00001
|
NM_000051.4(ATM):c.3402+5T>C
|
rs1057520229
|
0.00001
|
NM_000051.4(ATM):c.3402+9A>G
|
rs761919506
|
0.00001
|
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)
|
rs369518512
|
0.00001
|
NM_000051.4(ATM):c.3453A>G (p.Lys1151=)
|
rs977448999
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.3558A>G (p.Glu1186=)
|
rs12786957
|
0.00001
|
NM_000051.4(ATM):c.3577-12T>C
|
rs757616718
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3627T>C (p.Phe1209=)
|
rs762605020
|
0.00001
|
NM_000051.4(ATM):c.366T>C (p.Asn122=)
|
rs1178025248
|
0.00001
|
NM_000051.4(ATM):c.3720C>T (p.Asn1240=)
|
rs1478427829
|
0.00001
|
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=)
|
rs772331389
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000051.4(ATM):c.3746+12C>A
|
rs768841674
|
0.00001
|
NM_000051.4(ATM):c.3746+17C>T
|
rs1057520850
|
0.00001
|
NM_000051.4(ATM):c.3747-8A>G
|
rs569612113
|
0.00001
|
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=)
|
rs886039637
|
0.00001
|
NM_000051.4(ATM):c.3771A>C (p.Pro1257=)
|
rs1057523320
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3918T>C (p.Ser1306=)
|
rs139632347
|
0.00001
|
NM_000051.4(ATM):c.3921G>A (p.Gly1307=)
|
rs969461745
|
0.00001
|
NM_000051.4(ATM):c.3951G>A (p.Lys1317=)
|
rs1485996895
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.4023A>T (p.Pro1341=)
|
rs1020202983
|
0.00001
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
0.00001
|
NM_000051.4(ATM):c.4056T>C (p.His1352=)
|
rs587780622
|
0.00001
|
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)
|
rs767516955
|
0.00001
|
NM_000051.4(ATM):c.4101C>T (p.Asp1367=)
|
rs587780623
|
0.00001
|
NM_000051.4(ATM):c.4109+10T>C
|
rs1236628481
|
0.00001
|
NM_000051.4(ATM):c.4109+11T>C
|
rs749158400
|
0.00001
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
NM_000051.4(ATM):c.4109+9A>C
|
rs730881289
|
0.00001
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
NM_000051.4(ATM):c.4110-9C>A
|
rs730881367
|
0.00001
|
NM_000051.4(ATM):c.4114T>C (p.Leu1372=)
|
rs762242838
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
NM_000051.4(ATM):c.4236+11A>G
|
rs368684533
|
0.00001
|
NM_000051.4(ATM):c.4236+12T>C
|
rs369996463
|
0.00001
|
NM_000051.4(ATM):c.4236+8T>C
|
rs765636697
|
0.00001
|
NM_000051.4(ATM):c.4237-13G>A
|
rs778685615
|
0.00001
|
NM_000051.4(ATM):c.4237-18A>G
|
rs756842639
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
NM_000051.4(ATM):c.4305G>A (p.Lys1435=)
|
rs763567469
|
0.00001
|
NM_000051.4(ATM):c.433C>T (p.Leu145=)
|
rs587782328
|
0.00001
|
NM_000051.4(ATM):c.4356T>C (p.Asp1452=)
|
rs1283294799
|
0.00001
|
NM_000051.4(ATM):c.4359A>T (p.Ile1453=)
|
rs1213190389
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)
|
rs142728382
|
0.00001
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4437-12T>C
|
rs772888878
|
0.00001
|
NM_000051.4(ATM):c.4437-13dup
|
rs1555099701
|
0.00001
|
NM_000051.4(ATM):c.4437-20T>G
|
rs558432723
|
0.00001
|
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)
|
rs746296827
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4500G>A (p.Gln1500=)
|
rs1345605814
|
0.00001
|
NM_000051.4(ATM):c.450T>A (p.Leu150=)
|
rs1168425290
|
0.00001
|
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)
|
rs540798997
|
0.00001
|
NM_000051.4(ATM):c.4518G>A (p.Val1506=)
|
rs1057524110
|
0.00001
|
NM_000051.4(ATM):c.4551T>A (p.Leu1517=)
|
rs1459998980
|
0.00001
|
NM_000051.4(ATM):c.4569A>G (p.Thr1523=)
|
rs1555099963
|
0.00001
|
NM_000051.4(ATM):c.456G>T (p.Val152=)
|
rs1555059433
|
0.00001
|
NM_000051.4(ATM):c.4611+19T>C
|
rs776602821
|
0.00001
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)
|
rs976206782
|
0.00001
|
NM_000051.4(ATM):c.4629A>G (p.Lys1543=)
|
rs745565564
|
0.00001
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)
|
rs769562370
|
0.00001
|
NM_000051.4(ATM):c.4770C>T (p.Leu1590=)
|
rs749475519
|
0.00001
|
NM_000051.4(ATM):c.4776+15A>C
|
rs759607134
|
0.00001
|
NM_000051.4(ATM):c.4777-15C>T
|
rs1057521023
|
0.00001
|
NM_000051.4(ATM):c.4777-4T>C
|
rs756025941
|
0.00001
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
NM_000051.4(ATM):c.4822T>C (p.Leu1608=)
|
rs775464644
|
0.00001
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
NM_000051.4(ATM):c.4910-16A>T
|
rs866500582
|
0.00001
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
NM_000051.4(ATM):c.493T>C (p.Leu165=)
|
rs878853514
|
0.00001
|
NM_000051.4(ATM):c.4947C>T (p.Val1649=)
|
rs1436324961
|
0.00001
|
NM_000051.4(ATM):c.496+16T>G
|
rs776924718
|
0.00001
|
NM_000051.4(ATM):c.497-14_497-13insC
|
rs776788385
|
0.00001
|
NM_000051.4(ATM):c.497-4T>A
|
rs876659621
|
0.00001
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
NM_000051.4(ATM):c.5005+13C>T
|
rs1192513529
|
0.00001
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
NM_000051.4(ATM):c.5006-3T>C
|
rs761297488
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5055C>T (p.Thr1685=)
|
rs587780551
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.5079T>C (p.Asp1693=)
|
rs753036834
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.5136C>T (p.Phe1712=)
|
rs786203371
|
0.00001
|
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)
|
rs786203254
|
0.00001
|
NM_000051.4(ATM):c.5164C>T (p.Leu1722=)
|
rs1255639252
|
0.00001
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
0.00001
|
NM_000051.4(ATM):c.5220T>A (p.Ile1740=)
|
rs1452225772
|
0.00001
|
NM_000051.4(ATM):c.522C>G (p.Leu174=)
|
rs780173724
|
0.00001
|
NM_000051.4(ATM):c.5271A>G (p.Thr1757=)
|
rs1555105759
|
0.00001
|
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)
|
rs1060504282
|
0.00001
|
NM_000051.4(ATM):c.5319+20T>C
|
rs775616416
|
0.00001
|
NM_000051.4(ATM):c.5319+7T>A
|
rs925428128
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
NM_000051.4(ATM):c.5320-4C>G
|
rs1316146972
|
0.00001
|
NM_000051.4(ATM):c.5355T>G (p.Pro1785=)
|
rs1025083720
|
0.00001
|
NM_000051.4(ATM):c.5382G>A (p.Leu1794=)
|
rs188362115
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5497-10T>C
|
rs1457831101
|
0.00001
|
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)
|
rs146568734
|
0.00001
|
NM_000051.4(ATM):c.5553C>G (p.Leu1851=)
|
rs786201126
|
0.00001
|
NM_000051.4(ATM):c.5595T>C (p.His1865=)
|
rs772261410
|
0.00001
|
NM_000051.4(ATM):c.5613C>T (p.Thr1871=)
|
rs2083601650
|
0.00001
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
NM_000051.4(ATM):c.5640G>A (p.Thr1880=)
|
rs757103582
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5661A>G (p.Ala1887=)
|
rs876658939
|
0.00001
|
NM_000051.4(ATM):c.5688T>C (p.Phe1896=)
|
rs2083815927
|
0.00001
|
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)
|
rs863224293
|
0.00001
|
NM_000051.4(ATM):c.573T>A (p.Ile191=)
|
rs775003417
|
0.00001
|
NM_000051.4(ATM):c.5762+19C>T
|
rs1170960696
|
0.00001
|
NM_000051.4(ATM):c.5763-19A>G
|
rs967402817
|
0.00001
|
NM_000051.4(ATM):c.5835T>G (p.Ala1945=)
|
rs768106055
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5886A>G (p.Ala1962=)
|
rs1057522876
|
0.00001
|
NM_000051.4(ATM):c.5918+7G>A
|
rs1423323603
|
0.00001
|
NM_000051.4(ATM):c.5919-19G>A
|
rs1679583556
|
0.00001
|
NM_000051.4(ATM):c.5919-8A>G
|
rs1176654682
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.5964C>T (p.Ser1988=)
|
rs774260725
|
0.00001
|
NM_000051.4(ATM):c.6006+13G>C
|
rs368207631
|
0.00001
|
NM_000051.4(ATM):c.6006+17C>G
|
rs1218097012
|
0.00001
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
NM_000051.4(ATM):c.6007-10A>G
|
rs373395916
|
0.00001
|
NM_000051.4(ATM):c.6007-16G>A
|
rs771998564
|
0.00001
|
NM_000051.4(ATM):c.6012T>C (p.Leu2004=)
|
rs1324998068
|
0.00001
|
NM_000051.4(ATM):c.6015C>T (p.Leu2005=)
|
rs1397821498
|
0.00001
|
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=)
|
rs777534711
|
0.00001
|
NM_000051.4(ATM):c.6095+8G>T
|
rs547072690
|
0.00001
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
NM_000051.4(ATM):c.6097C>T (p.Leu2033=)
|
rs769813736
|
0.00001
|
NM_000051.4(ATM):c.6105A>G (p.Thr2035=)
|
rs1555113708
|
0.00001
|
NM_000051.4(ATM):c.6192C>A (p.Ile2064=)
|
rs876659831
|
0.00001
|
NM_000051.4(ATM):c.6198+11T>C
|
rs774664615
|
0.00001
|
NM_000051.4(ATM):c.6199-6G>A
|
rs1555114529
|
0.00001
|
NM_000051.4(ATM):c.6250T>C (p.Leu2084=)
|
rs772608345
|
0.00001
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
NM_000051.4(ATM):c.6336C>T (p.Cys2112=)
|
rs755845798
|
0.00001
|
NM_000051.4(ATM):c.6342C>T (p.Ser2114=)
|
rs754020535
|
0.00001
|
NM_000051.4(ATM):c.6348-5C>A
|
rs1388651064
|
0.00001
|
NM_000051.4(ATM):c.6394C>T (p.Leu2132=)
|
rs551408889
|
0.00001
|
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)
|
rs1057519167
|
0.00001
|
NM_000051.4(ATM):c.6452+13G>A
|
rs760228732
|
0.00001
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
NM_000051.4(ATM):c.6453-17T>G
|
rs1057522251
|
0.00001
|
NM_000051.4(ATM):c.6456A>G (p.Val2152=)
|
rs876660014
|
0.00001
|
NM_000051.4(ATM):c.6504G>A (p.Ser2168=)
|
rs786203522
|
0.00001
|
NM_000051.4(ATM):c.6507C>G (p.Leu2169=)
|
rs863224295
|
0.00001
|
NM_000051.4(ATM):c.6516A>G (p.Thr2172=)
|
rs576254168
|
0.00001
|
NM_000051.4(ATM):c.6558G>A (p.Gly2186=)
|
rs1555117263
|
0.00001
|
NM_000051.4(ATM):c.6572+13T>C
|
rs1441875536
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.663-19C>G
|
rs1044060944
|
0.00001
|
NM_000051.4(ATM):c.6630G>A (p.Gln2210=)
|
rs777515589
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.6687C>A (p.Val2229=)
|
rs1442555144
|
0.00001
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
0.00001
|
NM_000051.4(ATM):c.6756C>T (p.Thr2252=)
|
rs1008212556
|
0.00001
|
NM_000051.4(ATM):c.6807+10A>G
|
rs924117395
|
0.00001
|
NM_000051.4(ATM):c.6808-13A>G
|
rs1410228904
|
0.00001
|
NM_000051.4(ATM):c.6808-20A>G
|
rs1240565463
|
0.00001
|
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)
|
rs541718119
|
0.00001
|
NM_000051.4(ATM):c.6924C>A (p.Ala2308=)
|
rs759878732
|
0.00001
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
NM_000051.4(ATM):c.6927G>T (p.Leu2309=)
|
rs876660429
|
0.00001
|
NM_000051.4(ATM):c.6936C>T (p.Leu2312=)
|
rs1555119992
|
0.00001
|
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)
|
rs864622593
|
0.00001
|
NM_000051.4(ATM):c.6975+7T>A
|
rs754834282
|
0.00001
|
NM_000051.4(ATM):c.6975+9T>C
|
rs1290573965
|
0.00001
|
NM_000051.4(ATM):c.6976-6dup
|
rs760058702
|
0.00001
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
NM_000051.4(ATM):c.7017G>A (p.Arg2339=)
|
rs1591142466
|
0.00001
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
NM_000051.4(ATM):c.7089+20C>T
|
rs730881275
|
0.00001
|
NM_000051.4(ATM):c.7110T>C (p.Asn2370=)
|
rs752476328
|
0.00001
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
0.00001
|
NM_000051.4(ATM):c.7131T>C (p.Asp2377=)
|
rs373309822
|
0.00001
|
NM_000051.4(ATM):c.7134G>A (p.Glu2378=)
|
rs376185463
|
0.00001
|
NM_000051.4(ATM):c.717C>T (p.Phe239=)
|
rs779410490
|
0.00001
|
NM_000051.4(ATM):c.7209C>T (p.Asn2403=)
|
rs373662499
|
0.00001
|
NM_000051.4(ATM):c.7221A>G (p.Ser2407=)
|
rs786201881
|
0.00001
|
NM_000051.4(ATM):c.7266G>A (p.Glu2422=)
|
rs876659834
|
0.00001
|
NM_000051.4(ATM):c.73-14C>G
|
rs766284348
|
0.00001
|
NM_000051.4(ATM):c.73-15C>A
|
rs1216989217
|
0.00001
|
NM_000051.4(ATM):c.7302A>T (p.Thr2434=)
|
rs752125292
|
0.00001
|
NM_000051.4(ATM):c.7307+18A>C
|
rs777909508
|
0.00001
|
NM_000051.4(ATM):c.7308-10T>G
|
rs745319720
|
0.00001
|
NM_000051.4(ATM):c.7308-20C>T
|
rs778603753
|
0.00001
|
NM_000051.4(ATM):c.7314A>C (p.Thr2438=)
|
rs199909913
|
0.00001
|
NM_000051.4(ATM):c.7317A>G (p.Val2439=)
|
rs878853542
|
0.00001
|
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)
|
rs786201541
|
0.00001
|
NM_000051.4(ATM):c.7363C>T (p.Leu2455=)
|
rs147665149
|
0.00001
|
NM_000051.4(ATM):c.7371G>A (p.Glu2457=)
|
rs1454725863
|
0.00001
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7516-15T>G
|
rs1400642000
|
0.00001
|
NM_000051.4(ATM):c.7539A>G (p.Thr2513=)
|
rs752294923
|
0.00001
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.7545A>G (p.Lys2515=)
|
rs1467809725
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.7620C>A (p.Val2540=)
|
rs863224298
|
0.00001
|
NM_000051.4(ATM):c.7620C>T (p.Val2540=)
|
rs863224298
|
0.00001
|
NM_000051.4(ATM):c.7629+12T>C
|
rs373731708
|
0.00001
|
NM_000051.4(ATM):c.7629+20A>C
|
rs2086239323
|
0.00001
|
NM_000051.4(ATM):c.7629T>C (p.Asn2543=)
|
rs767123895
|
0.00001
|
NM_000051.4(ATM):c.762A>G (p.Leu254=)
|
rs1313709939
|
0.00001
|
NM_000051.4(ATM):c.7630-12C>G
|
rs911541230
|
0.00001
|
NM_000051.4(ATM):c.7630-15G>T
|
rs773603597
|
0.00001
|
NM_000051.4(ATM):c.7630-4A>G
|
rs1057523067
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.7707T>C (p.Asp2569=)
|
rs1183350500
|
0.00001
|
NM_000051.4(ATM):c.7716G>C (p.Leu2572=)
|
rs763730344
|
0.00001
|
NM_000051.4(ATM):c.7788+20G>A
|
rs775245736
|
0.00001
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
NM_000051.4(ATM):c.7821T>C (p.Cys2607=)
|
rs771607956
|
0.00001
|
NM_000051.4(ATM):c.7905C>T (p.Ala2635=)
|
rs757829783
|
0.00001
|
NM_000051.4(ATM):c.7927+13T>A
|
rs748853277
|
0.00001
|
NM_000051.4(ATM):c.7928-6A>T
|
rs373509918
|
0.00001
|
NM_000051.4(ATM):c.7974T>C (p.Asn2658=)
|
rs777548685
|
0.00001
|
NM_000051.4(ATM):c.8010+19_8010+20del
|
rs1325965934
|
0.00001
|
NM_000051.4(ATM):c.8010+5T>A
|
rs56256497
|
0.00001
|
NM_000051.4(ATM):c.8011-18T>C
|
rs768522292
|
0.00001
|
NM_000051.4(ATM):c.8019C>T (p.His2673=)
|
rs1181283176
|
0.00001
|
NM_000051.4(ATM):c.804A>G (p.Gln268=)
|
rs2079766818
|
0.00001
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
NM_000051.4(ATM):c.8112T>C (p.Cys2704=)
|
rs786201543
|
0.00001
|
NM_000051.4(ATM):c.8151+17C>G
|
rs761029795
|
0.00001
|
NM_000051.4(ATM):c.8152-17G>A
|
rs368924012
|
0.00001
|
NM_000051.4(ATM):c.8152-8T>A
|
rs752705487
|
0.00001
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
NM_000051.4(ATM):c.8193C>T (p.Val2731=)
|
rs1060504307
|
0.00001
|
NM_000051.4(ATM):c.8199G>A (p.Gln2733=)
|
rs770552705
|
0.00001
|
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)
|
rs759069006
|
0.00001
|
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)
|
rs150603052
|
0.00001
|
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=)
|
rs758654836
|
0.00001
|
NM_000051.4(ATM):c.8268+11G>A
|
rs769204788
|
0.00001
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
NM_000051.4(ATM):c.8268+18T>C
|
rs1555128701
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.834C>T (p.Val278=)
|
rs2079769316
|
0.00001
|
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)
|
rs1251164631
|
0.00001
|
NM_000051.4(ATM):c.8418+11C>A
|
rs1277361086
|
0.00001
|
NM_000051.4(ATM):c.8466T>C (p.Asp2822=)
|
rs1057523224
|
0.00001
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
NM_000051.4(ATM):c.8584+19T>C
|
rs772128061
|
0.00001
|
NM_000051.4(ATM):c.8584+6C>G
|
rs863224300
|
0.00001
|
NM_000051.4(ATM):c.8585-4C>A
|
rs1555139447
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000051.4(ATM):c.8595A>T (p.Ile2865=)
|
rs777245630
|
0.00001
|
NM_000051.4(ATM):c.8671+15C>A
|
rs1438943849
|
0.00001
|
NM_000051.4(ATM):c.8671+17A>G
|
rs765608446
|
0.00001
|
NM_000051.4(ATM):c.8671+19G>C
|
rs1308810219
|
0.00001
|
NM_000051.4(ATM):c.8672-19A>T
|
rs1381779608
|
0.00001
|
NM_000051.4(ATM):c.8676T>A (p.Val2892=)
|
rs1401097446
|
0.00001
|
NM_000051.4(ATM):c.8709T>C (p.Pro2903=)
|
rs773208089
|
0.00001
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
NM_000051.4(ATM):c.8786+15G>A
|
rs866338415
|
0.00001
|
NM_000051.4(ATM):c.8787-14G>A
|
rs994348665
|
0.00001
|
NM_000051.4(ATM):c.8787-15T>C
|
rs1057521788
|
0.00001
|
NM_000051.4(ATM):c.8787-4C>G
|
rs944858078
|
0.00001
|
NM_000051.4(ATM):c.8820C>T (p.Asn2940=)
|
rs775823407
|
0.00001
|
NM_000051.4(ATM):c.8844T>C (p.Ile2948=)
|
rs878853551
|
0.00001
|
NM_000051.4(ATM):c.8847A>G (p.Val2949=)
|
rs876658820
|
0.00001
|
NM_000051.4(ATM):c.8850+10T>C
|
rs762487236
|
0.00001
|
NM_000051.4(ATM):c.8850+17G>A
|
rs1027667991
|
0.00001
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
NM_000051.4(ATM):c.8851-8C>T
|
rs768937303
|
0.00001
|
NM_000051.4(ATM):c.8859A>G (p.Leu2953=)
|
rs773994431
|
0.00001
|
NM_000051.4(ATM):c.8871C>G (p.Leu2957=)
|
rs1555151266
|
0.00001
|
NM_000051.4(ATM):c.8902T>C (p.Leu2968=)
|
rs775313366
|
0.00001
|
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
NM_000051.4(ATM):c.8940T>G (p.Leu2980=)
|
rs576335919
|
0.00001
|
NM_000051.4(ATM):c.8955T>C (p.Asn2985=)
|
rs755561691
|
0.00001
|
NM_000051.4(ATM):c.8987+19A>G
|
rs1403885730
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000051.4(ATM):c.8988-7T>G
|
rs1487809821
|
0.00001
|
NM_000051.4(ATM):c.901+12A>G
|
rs759379354
|
0.00001
|
NM_000051.4(ATM):c.901+7A>G
|
rs1057523569
|
0.00001
|
NM_000051.4(ATM):c.902-4A>G
|
rs1416161750
|
0.00001
|
NM_000051.4(ATM):c.9049C>T (p.Leu3017=)
|
rs876658991
|
0.00001
|
NM_000051.4(ATM):c.9060G>T (p.Val3020=)
|
rs864622625
|
0.00001
|
NM_000051.4(ATM):c.9072T>G (p.Thr3024=)
|
rs1308894113
|
0.00001
|
NM_000051.4(ATM):c.9087T>G (p.Gly3029=)
|
rs759675675
|
0.00001
|
NM_000051.4(ATM):c.912A>G (p.Glu304=)
|
rs1286754263
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
NM_000051.4(ATM):c.993G>A (p.Lys331=)
|
rs786202048
|
0.00001
|
NM_000051.4(ATM):c.996T>C (p.Tyr332=)
|
rs1476261420
|
0.00001
|
NM_000051.4(ATM):c.1008T>C (p.Phe336=)
|
rs1555068492
|
|
NM_000051.4(ATM):c.1014T>C (p.Asn338=)
|
rs1555068510
|
|
NM_000051.4(ATM):c.1020C>T (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.102T>A (p.Ile34=)
|
rs2135011891
|
|
NM_000051.4(ATM):c.1035G>A (p.Leu345=)
|
rs2135268584
|
|
NM_000051.4(ATM):c.1041A>G (p.Glu347=)
|
rs2135268758
|
|
NM_000051.4(ATM):c.1042T>C (p.Leu348=)
|
rs746733866
|
|
NM_000051.4(ATM):c.1044G>A (p.Leu348=)
|
rs879254039
|
|
NM_000051.4(ATM):c.1050A>G (p.Ala350=)
|
rs1591511442
|
|
NM_000051.4(ATM):c.1056C>T (p.Ile352=)
|
rs1555068605
|
|
NM_000051.4(ATM):c.105A>C (p.Arg35=)
|
rs1060504270
|
|
NM_000051.4(ATM):c.105A>G (p.Arg35=)
|
|
|
NM_000051.4(ATM):c.1062C>T (p.His354=)
|
rs773365379
|
|
NM_000051.4(ATM):c.1065+10G>A
|
rs1591511658
|
|
NM_000051.4(ATM):c.1065+13G>C
|
|
|
NM_000051.4(ATM):c.1065+14G>A
|
rs2135270151
|
|
NM_000051.4(ATM):c.1065+17A>G
|
rs373230921
|
|
NM_000051.4(ATM):c.1065+18T>C
|
|
|
NM_000051.4(ATM):c.1065+19G>A
|
|
|
NM_000051.4(ATM):c.1065+20T>C
|
|
|
NM_000051.4(ATM):c.1065+4C>T
|
rs1591511595
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
NM_000051.4(ATM):c.1065+8A>C
|
rs2135270000
|
|
NM_000051.4(ATM):c.1065+9_1065+12del
|
rs1486083030
|
|
NM_000051.4(ATM):c.1066-10T>C
|
rs2135289561
|
|
NM_000051.4(ATM):c.1066-16T>C
|
|
|
NM_000051.4(ATM):c.1066-19A>T
|
|
|
NM_000051.4(ATM):c.1066-9A>G
|
rs774334532
|
|
NM_000051.4(ATM):c.1068T>C (p.Val356=)
|
rs1462038794
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
NM_000051.4(ATM):c.1074T>C (p.Asn358=)
|
rs2135290159
|
|
NM_000051.4(ATM):c.1080T>C (p.Asp360=)
|
rs199869975
|
|
NM_000051.4(ATM):c.1084A>C (p.Arg362=)
|
|
|
NM_000051.4(ATM):c.1086A>G (p.Arg362=)
|
rs142591268
|
|
NM_000051.4(ATM):c.1089C>G (p.Ser363=)
|
|
|
NM_000051.4(ATM):c.1089C>T (p.Ser363=)
|
rs1555069567
|
|
NM_000051.4(ATM):c.1101T>A (p.Ser367=)
|
|
|
NM_000051.4(ATM):c.1101T>C (p.Ser367=)
|
|
|
NM_000051.4(ATM):c.1113T>C (p.Thr371=)
|
rs1591517484
|
|
NM_000051.4(ATM):c.1116T>C (p.Thr372=)
|
rs371985921
|
|
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
|
|
|
NM_000051.4(ATM):c.1119A>T (p.Thr373=)
|
rs754889105
|
|
NM_000051.4(ATM):c.1122A>G (p.Gln374=)
|
rs1264315069
|
|
NM_000051.4(ATM):c.1125A>G (p.Arg375=)
|
rs2135292242
|
|
NM_000051.4(ATM):c.1128A>G (p.Glu376=)
|
rs1186427608
|
|
NM_000051.4(ATM):c.1131T>A (p.Ser377=)
|
|
|
NM_000051.4(ATM):c.1131T>C (p.Ser377=)
|
rs2135292457
|
|
NM_000051.4(ATM):c.1134T>C (p.Ser378=)
|
|
|
NM_000051.4(ATM):c.1140C>T (p.Tyr380=)
|
rs2135292742
|
|
NM_000051.4(ATM):c.1143T>C (p.Ser381=)
|
rs755991658
|
|
NM_000051.4(ATM):c.1146C>A (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1146C>G (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1146C>T (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1149T>C (p.Pro383=)
|
rs786201409
|
|
NM_000051.4(ATM):c.114A>G (p.Glu38=)
|
rs1591446969
|
|
NM_000051.4(ATM):c.1161G>A (p.Lys387=)
|
rs786202369
|
|
NM_000051.4(ATM):c.1170A>G (p.Glu390=)
|
rs2135293693
|
|
NM_000051.4(ATM):c.117A>G (p.Thr39=)
|
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
NM_000051.4(ATM):c.1194T>C (p.Asp398=)
|
rs551872656
|
|
NM_000051.4(ATM):c.1200T>C (p.Leu400=)
|
rs1274342103
|
|
NM_000051.4(ATM):c.1209A>C (p.Ser403=)
|
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
NM_000051.4(ATM):c.1215T>C (p.Asn405=)
|
rs2135295261
|
|
NM_000051.4(ATM):c.1218T>C (p.Asp406=)
|
rs2135295378
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
NM_000051.4(ATM):c.1230G>A (p.Val410=)
|
rs1555069869
|
|
NM_000051.4(ATM):c.1230G>T (p.Val410=)
|
rs1555069869
|
|
NM_000051.4(ATM):c.1233T>C (p.Pro411=)
|
|
|
NM_000051.4(ATM):c.1233T>G (p.Pro411=)
|
rs1591518323
|
|
NM_000051.4(ATM):c.1235+10T>C
|
|
|
NM_000051.4(ATM):c.1235+10_1235+28del
|
rs1591518436
|
|
NM_000051.4(ATM):c.1235+11A>G
|
rs2135296543
|
|
NM_000051.4(ATM):c.1235+16T>G
|
|
|
NM_000051.4(ATM):c.1235+19C>T
|
|
|
NM_000051.4(ATM):c.1235+20T>C
|
rs762656752
|
|
NM_000051.4(ATM):c.1235+8G>A
|
|
|
NM_000051.4(ATM):c.1236-10T>C
|
rs1364244917
|
|
NM_000051.4(ATM):c.1236-14_1236-13insA
|
|
|
NM_000051.4(ATM):c.1236-14_1236-13insC
|
|
|
NM_000051.4(ATM):c.1236-17T>G
|
|
|
NM_000051.4(ATM):c.1236-18C>T
|
rs201767651
|
|
NM_000051.4(ATM):c.1236-18_1236-17dup
|
|
|
NM_000051.4(ATM):c.1236-19C>A
|
|
|
NM_000051.4(ATM):c.1236-19C>G
|
|
|
NM_000051.4(ATM):c.1236-19_1236-18insT
|
rs1211190659
|
|
NM_000051.4(ATM):c.1236-20_1236-19insA
|
|
|
NM_000051.4(ATM):c.1236-3_1236-2insC
|
rs730881281
|
|
NM_000051.4(ATM):c.1236-4_1236-3insC
|
rs2135315149
|
|
NM_000051.4(ATM):c.1236-6T>C
|
|
|
NM_000051.4(ATM):c.1236-6_1236-5insC
|
rs878853483
|
|
NM_000051.4(ATM):c.1236-7T>C
|
rs2080086515
|
|
NM_000051.4(ATM):c.1236-7_1236-6insA
|
|
|
NM_000051.4(ATM):c.1236-9T>C
|
rs2135314849
|
|
NM_000051.4(ATM):c.1236-9T>G
|
rs2135314849
|
|
NM_000051.4(ATM):c.1236-9_1236-8insC
|
rs863224290
|
|
NM_000051.4(ATM):c.1236-9_1236-8insG
|
rs863224290
|
|
NM_000051.4(ATM):c.123A>G (p.Lys41=)
|
rs2135012681
|
|
NM_000051.4(ATM):c.1245T>C (p.Ile415=)
|
|
|
NM_000051.4(ATM):c.1251C>G (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1251C>T (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1257A>G (p.Leu419=)
|
rs779037197
|
|
NM_000051.4(ATM):c.1260A>C (p.Ile420=)
|
rs750468699
|
|
NM_000051.4(ATM):c.1263A>G (p.Ser421=)
|
rs1060504285
|
|
NM_000051.4(ATM):c.1266G>A (p.Lys422=)
|
rs1057520445
|
|
NM_000051.4(ATM):c.1275A>G (p.Ala425=)
|
rs1591523031
|
|
NM_000051.4(ATM):c.1278T>C (p.Ser426=)
|
|
|
NM_000051.4(ATM):c.127C>T (p.Leu43=)
|
rs772591447
|
|
NM_000051.4(ATM):c.1293G>A (p.Glu431=)
|
rs2135317554
|
|
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=)
|
rs1591523100
|
|
NM_000051.4(ATM):c.1296G>A (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1296G>C (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
|
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
|
|
|
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
|
|
|
NM_000051.4(ATM):c.1323G>A (p.Gln441=)
|
rs2080095950
|
|
NM_000051.4(ATM):c.1326T>A (p.Leu442=)
|
|
|
NM_000051.4(ATM):c.1327C>T (p.Leu443=)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1329A>G (p.Leu443=)
|
rs201460863
|
|
NM_000051.4(ATM):c.1332C>T (p.Pro444=)
|
|
|
NM_000051.4(ATM):c.133C>A (p.Arg45=)
|
rs3218684
|
|
NM_000051.4(ATM):c.1341A>T (p.Arg447=)
|
rs2135319279
|
|
NM_000051.4(ATM):c.1347G>A (p.Gly449=)
|
rs1591523440
|
|
NM_000051.4(ATM):c.1350A>G (p.Glu450=)
|
rs2135319715
|
|
NM_000051.4(ATM):c.1356A>G (p.Thr452=)
|
rs1555070803
|
|
NM_000051.4(ATM):c.1359A>G (p.Pro453=)
|
rs786203693
|
|
NM_000051.4(ATM):c.135G>A (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>C (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>T (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.1365G>A (p.Val455=)
|
rs765130666
|
|
NM_000051.4(ATM):c.1371A>T (p.Arg457=)
|
|
|
NM_000051.4(ATM):c.1374C>T (p.Cys458=)
|
rs2135320531
|
|
NM_000051.4(ATM):c.1380G>A (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1383A>G (p.Glu461=)
|
rs748493136
|
|
NM_000051.4(ATM):c.1386T>C (p.Val462=)
|
|
|
NM_000051.4(ATM):c.1386T>G (p.Val462=)
|
|
|
NM_000051.4(ATM):c.1389A>G (p.Ala463=)
|
rs2080102935
|
|
NM_000051.4(ATM):c.1390T>C (p.Leu464=)
|
|
|
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
|
|
|
NM_000051.4(ATM):c.1404G>A (p.Lys468=)
|
rs2135321676
|
|
NM_000051.4(ATM):c.1410A>C (p.Ser470=)
|
rs939650649
|
|
NM_000051.4(ATM):c.1416A>G (p.Leu472=)
|
rs786201691
|
|
NM_000051.4(ATM):c.1419A>G (p.Glu473=)
|
rs2135322174
|
|
NM_000051.4(ATM):c.1422C>T (p.Ser474=)
|
|
|
NM_000051.4(ATM):c.1425A>G (p.Ser475=)
|
rs2080105606
|
|
NM_000051.4(ATM):c.1428A>G (p.Gln476=)
|
rs745509434
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
|
|
|
NM_000051.4(ATM):c.1449C>G (p.Leu483=)
|
rs948934905
|
|
NM_000051.4(ATM):c.1473C>A (p.Thr491=)
|
rs764937436
|
|
NM_000051.4(ATM):c.1473C>T (p.Thr491=)
|
rs764937436
|
|
NM_000051.4(ATM):c.1476T>C (p.Phe492=)
|
rs1591524241
|
|
NM_000051.4(ATM):c.147C>T (p.Ser49=)
|
rs876660033
|
|
NM_000051.4(ATM):c.1482T>G (p.Gly494=)
|
rs1335320350
|
|
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
|
|
|
NM_000051.4(ATM):c.1491T>A (p.Ser497=)
|
rs1555071057
|
|
NM_000051.4(ATM):c.1491T>C (p.Ser497=)
|
rs1555071057
|
|
NM_000051.4(ATM):c.1506T>C (p.Ala502=)
|
|
|
NM_000051.4(ATM):c.1518C>G (p.Gly506=)
|
rs864622528
|
|
NM_000051.4(ATM):c.1518C>T (p.Gly506=)
|
rs864622528
|
|
NM_000051.4(ATM):c.1521A>G (p.Leu507=)
|
rs2135325598
|
|
NM_000051.4(ATM):c.1524T>C (p.Leu508=)
|
rs559095379
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
NM_000051.4(ATM):c.1551T>C (p.Val517=)
|
rs553020161
|
|
NM_000051.4(ATM):c.1560C>T (p.Asp520=)
|
rs1591524777
|
|
NM_000051.4(ATM):c.1561A>C (p.Arg521=)
|
rs2080118357
|
|
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
|
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
NM_000051.4(ATM):c.1581T>C (p.Phe527=)
|
rs1555071227
|
|
NM_000051.4(ATM):c.1584T>A (p.Thr528=)
|
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
NM_000051.4(ATM):c.1587G>A (p.Gly529=)
|
rs1060504276
|
|
NM_000051.4(ATM):c.1590A>G (p.Ser530=)
|
rs2135327907
|
|
NM_000051.4(ATM):c.1599A>G (p.Arg533=)
|
rs1555071269
|
|
NM_000051.4(ATM):c.159A>G (p.Lys53=)
|
rs1060504281
|
|
NM_000051.4(ATM):c.15T>G (p.Leu5=)
|
rs1357506783
|
|
NM_000051.4(ATM):c.1602T>C (p.Pro534=)
|
rs1555071275
|
|
NM_000051.4(ATM):c.1605A>G (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1605A>T (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1607+10G>A
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+10G>C
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+10G>T
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+11C>A
|
rs955225694
|
|
NM_000051.4(ATM):c.1607+11C>T
|
|
|
NM_000051.4(ATM):c.1607+12A>G
|
|
|
NM_000051.4(ATM):c.1607+13T>C
|
rs1057522249
|
|
NM_000051.4(ATM):c.1607+14G>A
|
|
|
NM_000051.4(ATM):c.1607+15C>T
|
|
|
NM_000051.4(ATM):c.1607+18T>C
|
|
|
NM_000051.4(ATM):c.1607+18del
|
rs1259647838
|
|
NM_000051.4(ATM):c.1607+19A>C
|
|
|
NM_000051.4(ATM):c.1607+20T>C
|
rs1555071308
|
|
NM_000051.4(ATM):c.1607+21_1607+29del
|
|
|
NM_000051.4(ATM):c.1607+7T>C
|
rs2135328716
|
|
NM_000051.4(ATM):c.1607+7T>G
|
|
|
NM_000051.4(ATM):c.1607+8C>T
|
rs2135328749
|
|
NM_000051.4(ATM):c.1607+9A>T
|
rs1028538482
|
|
NM_000051.4(ATM):c.1608-13T>C
|
|
|
NM_000051.4(ATM):c.1608-16C>A
|
|
|
NM_000051.4(ATM):c.1608-16C>G
|
rs2080161173
|
|
NM_000051.4(ATM):c.1608-18T>C
|
|
|
NM_000051.4(ATM):c.1608-19G>C
|
|
|
NM_000051.4(ATM):c.1608-20T>C
|
|
|
NM_000051.4(ATM):c.1608-4A>G
|
rs2080162473
|
|
NM_000051.4(ATM):c.1608-7G>A
|
rs1555071656
|
|
NM_000051.4(ATM):c.1608-7G>T
|
rs1555071656
|
|
NM_000051.4(ATM):c.1611T>C (p.Pro537=)
|
rs2135338657
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
NM_000051.4(ATM):c.1620C>T (p.Cys540=)
|
rs1555071676
|
|
NM_000051.4(ATM):c.1635A>G (p.Ala545=)
|
rs1555071712
|
|
NM_000051.4(ATM):c.1636C>T (p.Leu546=)
|
rs2227924
|
|
NM_000051.4(ATM):c.1653T>C (p.Val551=)
|
|
|
NM_000051.4(ATM):c.1662G>C (p.Thr554=)
|
rs764646531
|
|
NM_000051.4(ATM):c.1680G>A (p.Glu560=)
|
rs1555071815
|
|
NM_000051.4(ATM):c.168T>C (p.Asn56=)
|
rs1591447362
|
|
NM_000051.4(ATM):c.1698A>G (p.Val566=)
|
rs2135341613
|
|
NM_000051.4(ATM):c.1701T>C (p.Asn567=)
|
rs878853487
|
|
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
|
|
|
NM_000051.4(ATM):c.1722A>G (p.Glu574=)
|
rs372334891
|
|
NM_000051.4(ATM):c.1734A>G (p.Lys578=)
|
rs1555071939
|
|
NM_000051.4(ATM):c.1740C>G (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1740C>T (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1743A>G (p.Leu581=)
|
|
|
NM_000051.4(ATM):c.1752G>A (p.Gln584=)
|
rs2135343108
|
|
NM_000051.4(ATM):c.1761T>A (p.Gly587=)
|
|
|
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
|
|
|
NM_000051.4(ATM):c.1776C>T (p.Ser592=)
|
rs1057524304
|
|
NM_000051.4(ATM):c.1779A>G (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1782A>G (p.Glu594=)
|
rs876660494
|
|
NM_000051.4(ATM):c.1788T>G (p.Pro596=)
|
|
|
NM_000051.4(ATM):c.1791A>G (p.Pro597=)
|
rs2135344323
|
|
NM_000051.4(ATM):c.1794T>C (p.Ile598=)
|
rs786201830
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.1802+12T>G
|
|
|
NM_000051.4(ATM):c.1802+13C>T
|
rs1555072105
|
|
NM_000051.4(ATM):c.1802+14A>G
|
rs2135344920
|
|
NM_000051.4(ATM):c.1802+15T>C
|
rs2135344940
|
|
NM_000051.4(ATM):c.1802+16T>C
|
rs995327985
|
|
NM_000051.4(ATM):c.1802+16del
|
rs1064794466
|
|
NM_000051.4(ATM):c.1802+18G>A
|
|
|
NM_000051.4(ATM):c.1802+18G>C
|
rs1168327781
|
|
NM_000051.4(ATM):c.1802+19C>T
|
|
|
NM_000051.4(ATM):c.1802+20A>T
|
rs1009750697
|
|
NM_000051.4(ATM):c.1802+8A>G
|
rs766706104
|
|
NM_000051.4(ATM):c.1802+8A>T
|
rs766706104
|
|
NM_000051.4(ATM):c.1802+9A>G
|
rs2135344806
|
|
NM_000051.4(ATM):c.1803-10T>C
|
rs1555072423
|
|
NM_000051.4(ATM):c.1803-15T>C
|
rs2080225396
|
|
NM_000051.4(ATM):c.1803-18T>C
|
|
|
NM_000051.4(ATM):c.1803-20C>T
|
|
|
NM_000051.4(ATM):c.1803-4G>A
|
rs876659300
|
|
NM_000051.4(ATM):c.1803-4G>T
|
|
|
NM_000051.4(ATM):c.1803-5T>C
|
rs786203034
|
|
NM_000051.4(ATM):c.1803-7T>C
|
rs2135352285
|
|
NM_000051.4(ATM):c.1803-9T>C
|
rs2135352230
|
|
NM_000051.4(ATM):c.180T>G (p.Val60=)
|
rs786201375
|
|
NM_000051.4(ATM):c.1818T>G (p.Leu606=)
|
rs2080227232
|
|
NM_000051.4(ATM):c.1821A>C (p.Val607=)
|
rs876660362
|
|
NM_000051.4(ATM):c.1821A>G (p.Val607=)
|
rs876660362
|
|
NM_000051.4(ATM):c.1822C>T (p.Leu608=)
|
rs1591530779
|
|
NM_000051.4(ATM):c.1827G>A (p.Glu609=)
|
rs1555072460
|
|
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
|
|
|
NM_000051.4(ATM):c.1833T>A (p.Ile611=)
|
rs2135353362
|
|
NM_000051.4(ATM):c.1833T>C (p.Ile611=)
|
|
|
NM_000051.4(ATM):c.1836T>A (p.Leu612=)
|
rs1309539769
|
|
NM_000051.4(ATM):c.1839G>C (p.Val613=)
|
rs2135353682
|
|
NM_000051.4(ATM):c.1845C>T (p.Leu615=)
|
rs1349398596
|
|
NM_000051.4(ATM):c.1848T>C (p.Thr616=)
|
rs1045549048
|
|
NM_000051.4(ATM):c.185+10T>G
|
rs1555054317
|
|
NM_000051.4(ATM):c.185+14A>G
|
rs2135015612
|
|
NM_000051.4(ATM):c.185+16T>C
|
rs1343329254
|
|
NM_000051.4(ATM):c.185+16T>G
|
|
|
NM_000051.4(ATM):c.185+18A>C
|
|
|
NM_000051.4(ATM):c.185+9T>G
|
|
|
NM_000051.4(ATM):c.186-10T>C
|
rs773957101
|
|
NM_000051.4(ATM):c.186-11T>C
|
|
|
NM_000051.4(ATM):c.186-14T>A
|
|
|
NM_000051.4(ATM):c.186-18C>T
|
rs1410616583
|
|
NM_000051.4(ATM):c.186-4G>C
|
|
|
NM_000051.4(ATM):c.186-6T>C
|
rs2078881202
|
|
NM_000051.4(ATM):c.186-8del
|
rs1555055031
|
|
NM_000051.4(ATM):c.1866T>C (p.Ala622=)
|
rs2135354414
|
|
NM_000051.4(ATM):c.1869A>G (p.Ala623=)
|
rs1591531055
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1881C>T (p.Phe627=)
|
rs1555072574
|
|
NM_000051.4(ATM):c.1890G>T (p.Val630=)
|
rs1555072586
|
|
NM_000051.4(ATM):c.1896A>G (p.Glu632=)
|
rs2135355169
|
|
NM_000051.4(ATM):c.1898+10C>G
|
rs199570442
|
|
NM_000051.4(ATM):c.1898+16A>T
|
|
|
NM_000051.4(ATM):c.1898+18G>A
|
rs2135355669
|
|
NM_000051.4(ATM):c.1898+19C>G
|
|
|
NM_000051.4(ATM):c.1898+19C>T
|
|
|
NM_000051.4(ATM):c.1898+20T>G
|
|
|
NM_000051.4(ATM):c.1898+8A>T
|
|
|
NM_000051.4(ATM):c.1899-10T>A
|
|
|
NM_000051.4(ATM):c.1899-11C>G
|
rs730881282
|
|
NM_000051.4(ATM):c.1899-14T>C
|
rs2135365137
|
|
NM_000051.4(ATM):c.1899-16T>A
|
rs1352009139
|
|
NM_000051.4(ATM):c.1899-16T>C
|
|
|
NM_000051.4(ATM):c.1899-16_1899-15insA
|
rs2135365068
|
|
NM_000051.4(ATM):c.1899-23_1899-19del
|
rs2135364890
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
NM_000051.4(ATM):c.1899-7C>G
|
|
|
NM_000051.4(ATM):c.1899-7C>T
|
rs1060501584
|
|
NM_000051.4(ATM):c.189T>C (p.Phe63=)
|
rs926466183
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
NM_000051.4(ATM):c.1908C>T (p.His636=)
|
rs2135365854
|
|
NM_000051.4(ATM):c.1923A>G (p.Glu641=)
|
rs2135366297
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
|
|
|
NM_000051.4(ATM):c.1935C>T (p.Phe645=)
|
rs876659709
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
NM_000051.4(ATM):c.1944A>C (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1944A>G (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
NM_000051.4(ATM):c.1956T>C (p.Phe652=)
|
|
|
NM_000051.4(ATM):c.1968T>C (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.1968T>G (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.1974C>T (p.Asp658=)
|
|
|
NM_000051.4(ATM):c.1977G>A (p.Lys659=)
|
rs1060501565
|
|
NM_000051.4(ATM):c.1983C>T (p.Asp661=)
|
rs2080301965
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
NM_000051.4(ATM):c.1995T>A (p.Ile665=)
|
|
|
NM_000051.4(ATM):c.1995T>C (p.Ile665=)
|
rs1555073271
|
|
NM_000051.4(ATM):c.1998G>A (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.1998G>C (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.2010T>C (p.Gly670=)
|
rs2135368892
|
|
NM_000051.4(ATM):c.201T>C (p.Tyr67=)
|
rs1555055083
|
|
NM_000051.4(ATM):c.2028C>T (p.Ser676=)
|
rs375196053
|
|
NM_000051.4(ATM):c.2034T>A (p.Ile678=)
|
rs1013513956
|
|
NM_000051.4(ATM):c.2034T>C (p.Ile678=)
|
rs1013513956
|
|
NM_000051.4(ATM):c.2043T>A (p.Ser681=)
|
rs746422877
|
|
NM_000051.4(ATM):c.2046C>G (p.Val682=)
|
rs1591534664
|
|
NM_000051.4(ATM):c.2058C>G (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.2058C>T (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.2064A>G (p.Glu688=)
|
rs772739433
|
|
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
|
rs1555073434
|
|
NM_000051.4(ATM):c.2068C>T (p.Leu690=)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2070G>A (p.Leu690=)
|
|
|
NM_000051.4(ATM):c.2088A>T (p.Gly696=)
|
rs1555073469
|
|
NM_000051.4(ATM):c.2089T>C (p.Leu697=)
|
|
|
NM_000051.4(ATM):c.2091A>G (p.Leu697=)
|
rs2135371070
|
|
NM_000051.4(ATM):c.2094A>C (p.Ser698=)
|
rs1344336370
|
|
NM_000051.4(ATM):c.2094A>G (p.Ser698=)
|
rs1344336370
|
|
NM_000051.4(ATM):c.2097A>G (p.Glu699=)
|
rs777887012
|
|
NM_000051.4(ATM):c.2104C>T (p.Leu702=)
|
rs1555073490
|
|
NM_000051.4(ATM):c.210A>G (p.Lys70=)
|
rs1064793030
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
NM_000051.4(ATM):c.2124+12T>A
|
rs61278354
|
|
NM_000051.4(ATM):c.2124+15A>G
|
|
|
NM_000051.4(ATM):c.2124+16_2124+19del
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+20G>A
|
|
|
NM_000051.4(ATM):c.2124+9T>A
|
rs1591535203
|
|
NM_000051.4(ATM):c.2125-12G>A
|
rs2135391706
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
NM_000051.4(ATM):c.2125-14T>C
|
|
|
NM_000051.4(ATM):c.2125-15G>T
|
|
|
NM_000051.4(ATM):c.2125-15_2125-9del
|
rs2135391517
|
|
NM_000051.4(ATM):c.2125-16T>C
|
rs1057523016
|
|
NM_000051.4(ATM):c.2125-17T>C
|
rs1373576656
|
|
NM_000051.4(ATM):c.2125-18T>C
|
|
|
NM_000051.4(ATM):c.2125-19A>C
|
rs2080469665
|
|
NM_000051.4(ATM):c.2125-19A>T
|
rs2080469665
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
NM_000051.4(ATM):c.2125-4dup
|
rs2135391852
|
|
NM_000051.4(ATM):c.2125-5T>C
|
|
|
NM_000051.4(ATM):c.2125-7C>A
|
rs2135391832
|
|
NM_000051.4(ATM):c.2125-7_2125-3del
|
rs1060504272
|
|
NM_000051.4(ATM):c.2125-9T>C
|
rs2135391794
|
|
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
|
|
|
NM_000051.4(ATM):c.2139A>G (p.Glu713=)
|
rs2080473610
|
|
NM_000051.4(ATM):c.2145T>G (p.Leu715=)
|
rs2080474170
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2157A>G (p.Ser719=)
|
rs1591542014
|
|
NM_000051.4(ATM):c.2157A>T (p.Ser719=)
|
|
|
NM_000051.4(ATM):c.2163T>C (p.Leu721=)
|
rs1591542057
|
|
NM_000051.4(ATM):c.2164T>C (p.Leu722=)
|
|
|
NM_000051.4(ATM):c.2169G>T (p.Val723=)
|
rs878853491
|
|
NM_000051.4(ATM):c.2172T>C (p.Gly724=)
|
rs1591542120
|
|
NM_000051.4(ATM):c.2172T>G (p.Gly724=)
|
rs1591542120
|
|
NM_000051.4(ATM):c.2178T>C (p.Leu726=)
|
rs1591542185
|
|
NM_000051.4(ATM):c.2181C>G (p.Gly727=)
|
rs876658836
|
|
NM_000051.4(ATM):c.2184C>T (p.Cys728=)
|
rs1555074933
|
|
NM_000051.4(ATM):c.2190T>C (p.Cys730=)
|
rs876659949
|
|
NM_000051.4(ATM):c.2199T>C (p.Gly733=)
|
rs1591542359
|
|
NM_000051.4(ATM):c.2208T>G (p.Ala736=)
|
rs761874856
|
|
NM_000051.4(ATM):c.2214G>A (p.Glu738=)
|
rs1565395061
|
|
NM_000051.4(ATM):c.2220A>T (p.Ala740=)
|
rs56353517
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
NM_000051.4(ATM):c.222T>C (p.Cys74=)
|
rs1555055127
|
|
NM_000051.4(ATM):c.2232A>G (p.Glu744=)
|
rs2080482588
|
|
NM_000051.4(ATM):c.2233T>C (p.Leu745=)
|
rs1293287271
|
|
NM_000051.4(ATM):c.2244A>G (p.Lys748=)
|
rs1591542559
|
|
NM_000051.4(ATM):c.2247C>T (p.Ala749=)
|
|
|
NM_000051.4(ATM):c.2250+13A>G
|
rs1290519111
|
|
NM_000051.4(ATM):c.2250+15A>C
|
rs1057523706
|
|
NM_000051.4(ATM):c.2250+15A>G
|
rs1057523706
|
|
NM_000051.4(ATM):c.2250+16C>G
|
rs2135395339
|
|
NM_000051.4(ATM):c.2250+16C>T
|
|
|
NM_000051.4(ATM):c.2250+20T>A
|
rs377570109
|
|
NM_000051.4(ATM):c.2250+7G>A
|
rs752009031
|
|
NM_000051.4(ATM):c.2250+7G>T
|
rs752009031
|
|
NM_000051.4(ATM):c.2250+8A>T
|
rs1555075054
|
|
NM_000051.4(ATM):c.2250+9A>C
|
rs755569951
|
|
NM_000051.4(ATM):c.2250+9A>G
|
rs755569951
|
|
NM_000051.4(ATM):c.2251-12T>C
|
|
|
NM_000051.4(ATM):c.2251-13C>A
|
|
|
NM_000051.4(ATM):c.2251-13C>G
|
|
|
NM_000051.4(ATM):c.2251-13C>T
|
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
NM_000051.4(ATM):c.2251-15T>C
|
rs1565396892
|
|
NM_000051.4(ATM):c.2251-5A>C
|
|
|
NM_000051.4(ATM):c.2251-5A>T
|
|
|
NM_000051.4(ATM):c.2254C>T (p.Leu752=)
|
rs756522395
|
|
NM_000051.4(ATM):c.225G>A (p.Leu75=)
|
rs1060504306
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
NM_000051.4(ATM):c.2284C>T (p.Leu762=)
|
rs876659401
|
|
NM_000051.4(ATM):c.2289T>C (p.Phe763=)
|
|
|
NM_000051.4(ATM):c.228A>G (p.Arg76=)
|
rs1591451698
|
|
NM_000051.4(ATM):c.2295T>C (p.Asn765=)
|
rs1444950103
|
|
NM_000051.4(ATM):c.22C>T (p.Leu8=)
|
rs2135004594
|
|
NM_000051.4(ATM):c.2304T>C (p.Asn768=)
|
rs2135406753
|
|
NM_000051.4(ATM):c.2307G>A (p.Glu769=)
|
|
|
NM_000051.4(ATM):c.2326T>C (p.Leu776=)
|
rs762937809
|
|
NM_000051.4(ATM):c.2329A>C (p.Arg777=)
|
rs1565397263
|
|
NM_000051.4(ATM):c.2334T>C (p.Asn778=)
|
rs1555075758
|
|
NM_000051.4(ATM):c.2343G>A (p.Gln781=)
|
rs2135407606
|
|
NM_000051.4(ATM):c.234A>G (p.Ala78=)
|
rs1555055145
|
|
NM_000051.4(ATM):c.2352A>G (p.Thr784=)
|
rs759679953
|
|
NM_000051.4(ATM):c.2352A>T (p.Thr784=)
|
rs759679953
|
|
NM_000051.4(ATM):c.2355T>C (p.Arg785=)
|
rs1555075801
|
|
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)
|
rs2135408164
|
|
NM_000051.4(ATM):c.2364C>T (p.Ser788=)
|
rs2135408164
|
|
NM_000051.4(ATM):c.2367C>T (p.Asn789=)
|
rs2080585059
|
|
NM_000051.4(ATM):c.2376+11C>T
|
|
|
NM_000051.4(ATM):c.2376+14C>A
|
rs2135408701
|
|
NM_000051.4(ATM):c.2376+16del
|
rs779169817
|
|
NM_000051.4(ATM):c.2376+17C>G
|
|
|
NM_000051.4(ATM):c.2376+17_2376+18del
|
|
|
NM_000051.4(ATM):c.2376+18T>A
|
|
|
NM_000051.4(ATM):c.2376+18T>C
|
rs1555075849
|
|
NM_000051.4(ATM):c.2376+20G>A
|
rs140364468
|
|
NM_000051.4(ATM):c.2376+20_2376+22del
|
rs1171212629
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
NM_000051.4(ATM):c.2376+5_2376+13dup
|
|
|
NM_000051.4(ATM):c.2376+7T>A
|
|
|
NM_000051.4(ATM):c.2376+7T>C
|
|
|
NM_000051.4(ATM):c.2376+7T>G
|
rs2135408560
|
|
NM_000051.4(ATM):c.2376+8T>A
|
rs2135408581
|
|
NM_000051.4(ATM):c.2376+8T>C
|
|
|
NM_000051.4(ATM):c.2376+8T>G
|
rs2135408581
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.2377-11C>A
|
rs2080691297
|
|
NM_000051.4(ATM):c.2377-11C>G
|
rs2080691297
|
|
NM_000051.4(ATM):c.2377-12T>C
|
|
|
NM_000051.4(ATM):c.2377-14del
|
|
|
NM_000051.4(ATM):c.2377-15_2377-12del
|
rs730881298
|
|
NM_000051.4(ATM):c.2377-16T>A
|
rs1009142114
|
|
NM_000051.4(ATM):c.2377-20_2377-18del
|
rs2080689774
|
|
NM_000051.4(ATM):c.2377-5T>C
|
rs754206007
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
NM_000051.4(ATM):c.2377-9T>A
|
rs2080691443
|
|
NM_000051.4(ATM):c.237A>G (p.Lys79=)
|
rs1160350816
|
|
NM_000051.4(ATM):c.2382T>C (p.Ser794=)
|
rs1555076601
|
|
NM_000051.4(ATM):c.2385A>G (p.Pro795=)
|
rs2135420750
|
|
NM_000051.4(ATM):c.2394T>C (p.Ile798=)
|
rs876659882
|
|
NM_000051.4(ATM):c.2397A>C (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2397A>G (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2397A>T (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2400T>A (p.Ser800=)
|
|
|
NM_000051.4(ATM):c.2403C>A (p.Gly801=)
|
rs1264455310
|
|
NM_000051.4(ATM):c.2406T>C (p.Phe802=)
|
rs1472760933
|
|
NM_000051.4(ATM):c.2409C>T (p.Phe803=)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2410C>T (p.Leu804=)
|
rs1591551341
|
|
NM_000051.4(ATM):c.2415A>G (p.Arg805=)
|
|
|
NM_000051.4(ATM):c.2416T>C (p.Leu806=)
|
rs1591551376
|
|
NM_000051.4(ATM):c.2424A>C (p.Thr808=)
|
|
|
NM_000051.4(ATM):c.2424A>G (p.Thr808=)
|
rs1555076671
|
|
NM_000051.4(ATM):c.2427A>G (p.Ser809=)
|
rs1591551435
|
|
NM_000051.4(ATM):c.2430G>A (p.Lys810=)
|
rs1555076689
|
|
NM_000051.4(ATM):c.2431C>T (p.Leu811=)
|
rs2135421739
|
|
NM_000051.4(ATM):c.243T>C (p.Asn81=)
|
rs1591451819
|
|
NM_000051.4(ATM):c.2442C>T (p.Asp814=)
|
rs3218695
|
|
NM_000051.4(ATM):c.2466+10C>A
|
rs759158068
|
|
NM_000051.4(ATM):c.2466+10C>T
|
rs759158068
|
|
NM_000051.4(ATM):c.2466+13C>G
|
|
|
NM_000051.4(ATM):c.2466+16G>A
|
rs2135422757
|
|
NM_000051.4(ATM):c.2466+19T>C
|
|
|
NM_000051.4(ATM):c.2466+20T>C
|
|
|
NM_000051.4(ATM):c.2466+7A>T
|
rs55812024
|
|
NM_000051.4(ATM):c.2466+8T>A
|
rs765619483
|
|
NM_000051.4(ATM):c.2466+8T>C
|
rs765619483
|
|
NM_000051.4(ATM):c.2466+9G>A
|
|
|
NM_000051.4(ATM):c.2466+9G>T
|
rs2135422617
|
|
NM_000051.4(ATM):c.2466+9dup
|
|
|
NM_000051.4(ATM):c.2467-11C>G
|
|
|
NM_000051.4(ATM):c.2467-11C>T
|
rs1267435091
|
|
NM_000051.4(ATM):c.2467-12T>C
|
rs1469467036
|
|
NM_000051.4(ATM):c.2467-13C>G
|
|
|
NM_000051.4(ATM):c.2467-17G>A
|
|
|
NM_000051.4(ATM):c.2467-17_2467-14del
|
|
|
NM_000051.4(ATM):c.2467-19T>G
|
rs2135504690
|
|
NM_000051.4(ATM):c.2467-20T>G
|
|
|
NM_000051.4(ATM):c.2467-4G>A
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467-4G>T
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467-7dup
|
rs762495417
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
NM_000051.4(ATM):c.2467-8C>T
|
rs1425701157
|
|
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
|
|
|
NM_000051.4(ATM):c.2472C>G (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2472C>T (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2484G>A (p.Lys828=)
|
|
|
NM_000051.4(ATM):c.2487A>G (p.Pro829=)
|
rs1330586139
|
|
NM_000051.4(ATM):c.2493C>T (p.Asp831=)
|
rs2135505712
|
|
NM_000051.4(ATM):c.2499A>C (p.Gly833=)
|
rs1060504263
|
|
NM_000051.4(ATM):c.249A>C (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>G (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>T (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.24G>A (p.Leu8=)
|
rs1555053888
|
|
NM_000051.4(ATM):c.2502A>G (p.Glu834=)
|
rs1591587377
|
|
NM_000051.4(ATM):c.2505A>G (p.Val835=)
|
rs1057523506
|
|
NM_000051.4(ATM):c.2508A>G (p.Glu836=)
|
rs2135506209
|
|
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
|
|
|
NM_000051.4(ATM):c.2520T>C (p.Asp840=)
|
rs1591587498
|
|
NM_000051.4(ATM):c.2523T>C (p.Asp841=)
|
rs758234872
|
|
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
|
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
NM_000051.4(ATM):c.252C>T (p.Ala84=)
|
|
|
NM_000051.4(ATM):c.2538A>C (p.Leu846=)
|
rs567045160
|
|
NM_000051.4(ATM):c.2538A>G (p.Leu846=)
|
rs567045160
|
|
NM_000051.4(ATM):c.2544G>A (p.Glu848=)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
NM_000051.4(ATM):c.2556G>A (p.Gln852=)
|
rs2081307368
|
|
NM_000051.4(ATM):c.2559A>G (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.2559A>T (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.255A>C (p.Ser85=)
|
|
|
NM_000051.4(ATM):c.255A>G (p.Ser85=)
|
rs2135035403
|
|
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
|
|
|
NM_000051.4(ATM):c.2571A>T (p.Leu857=)
|
rs1191404395
|
|
NM_000051.4(ATM):c.2586T>C (p.Pro862=)
|
rs2135508452
|
|
NM_000051.4(ATM):c.258A>G (p.Thr86=)
|
rs777434093
|
|
NM_000051.4(ATM):c.2622G>A (p.Glu874=)
|
rs2135509315
|
|
NM_000051.4(ATM):c.2625C>T (p.Ser875=)
|
rs1591588785
|
|
NM_000051.4(ATM):c.2628A>G (p.Gln876=)
|
rs1339119718
|
|
NM_000051.4(ATM):c.2634C>G (p.Thr878=)
|
rs771444818
|
|
NM_000051.4(ATM):c.2638+11A>G
|
rs1057521911
|
|
NM_000051.4(ATM):c.2638+15A>C
|
|
|
NM_000051.4(ATM):c.2638+15A>G
|
|
|
NM_000051.4(ATM):c.2638+16C>A
|
rs1386019726
|
|
NM_000051.4(ATM):c.2638+18A>G
|
rs1057521739
|
|
NM_000051.4(ATM):c.2638+18A>T
|
rs1057521739
|
|
NM_000051.4(ATM):c.2638+19C>A
|
rs1439350674
|
|
NM_000051.4(ATM):c.2638+19C>G
|
|
|
NM_000051.4(ATM):c.2638+7A>G
|
rs1555082379
|
|
NM_000051.4(ATM):c.2638+9A>C
|
rs761592414
|
|
NM_000051.4(ATM):c.2638+9A>T
|
rs761592414
|
|
NM_000051.4(ATM):c.2639-13T>C
|
|
|
NM_000051.4(ATM):c.2639-15G>A
|
rs757723219
|
|
NM_000051.4(ATM):c.2639-15G>T
|
|
|
NM_000051.4(ATM):c.2639-17G>A
|
|
|
NM_000051.4(ATM):c.2639-20T>A
|
|
|
NM_000051.4(ATM):c.2639-20T>C
|
rs2135522472
|
|
NM_000051.4(ATM):c.2639-20T>G
|
|
|
NM_000051.4(ATM):c.2639-382_2639-377del
|
rs1397425268
|
|
NM_000051.4(ATM):c.2639-384A>T
|
rs1131691154
|
|
NM_000051.4(ATM):c.2639-386_2639-381del
|
|
|
NM_000051.4(ATM):c.2639-8A>G
|
rs779419160
|
|
NM_000051.4(ATM):c.2639-8del
|
rs2135522747
|
|
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
|
|
|
NM_000051.4(ATM):c.2646T>A (p.Ile882=)
|
rs1591593585
|
|
NM_000051.4(ATM):c.2646T>C (p.Ile882=)
|
rs1591593585
|
|
NM_000051.4(ATM):c.264C>T (p.Ala88=)
|
rs1555055190
|
|
NM_000051.4(ATM):c.2658T>C (p.Ala886=)
|
rs1591593665
|
|
NM_000051.4(ATM):c.2664A>G (p.Glu888=)
|
rs2135523410
|
|
NM_000051.4(ATM):c.2667T>C (p.Tyr889=)
|
rs2081381578
|
|
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
|
|
|
NM_000051.4(ATM):c.2676G>A (p.Lys892=)
|
rs1555083128
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.267C>T (p.Ser89=)
|
rs1555055198
|
|
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
|
|
|
NM_000051.4(ATM):c.2703C>G (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2703C>T (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2706G>A (p.Lys902=)
|
rs2135524458
|
|
NM_000051.4(ATM):c.2709C>T (p.Phe903=)
|
rs2135524508
|
|
NM_000051.4(ATM):c.270G>A (p.Arg90=)
|
rs1313014736
|
|
NM_000051.4(ATM):c.2721T>C (p.Cys907=)
|
|
|
NM_000051.4(ATM):c.2724A>G (p.Val908=)
|
|
|
NM_000051.4(ATM):c.2724A>T (p.Val908=)
|
rs1555083247
|
|
NM_000051.4(ATM):c.2727T>C (p.Thr909=)
|
|
|
NM_000051.4(ATM):c.2739C>T (p.Thr913=)
|
rs1555083293
|
|
NM_000051.4(ATM):c.2742T>C (p.Asn914=)
|
rs1057520522
|
|
NM_000051.4(ATM):c.2745T>C (p.Thr915=)
|
rs2135525290
|
|
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
|
|
|
NM_000051.4(ATM):c.2748G>A (p.Val916=)
|
rs1050470790
|
|
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
|
|
|
NM_000051.4(ATM):c.2751C>G (p.Ser917=)
|
rs876659611
|
|
NM_000051.4(ATM):c.2754T>C (p.Phe918=)
|
rs758955717
|
|
NM_000051.4(ATM):c.2757G>A (p.Arg919=)
|
|
|
NM_000051.4(ATM):c.2763T>A (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2763T>C (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2766T>C (p.Asp922=)
|
rs2135525790
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
NM_000051.4(ATM):c.2772G>A (p.Arg924=)
|
|
|
NM_000051.4(ATM):c.2772G>C (p.Arg924=)
|
rs777541280
|
|
NM_000051.4(ATM):c.2779T>C (p.Leu927=)
|
rs2135526043
|
|
NM_000051.4(ATM):c.2781G>A (p.Leu927=)
|
rs770565353
|
|
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
|
|
|
NM_000051.4(ATM):c.2788T>C (p.Leu930=)
|
rs2135526232
|
|
NM_000051.4(ATM):c.279G>A (p.Lys93=)
|
rs368196317
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2806C>T (p.Leu936=)
|
rs1422401186
|
|
NM_000051.4(ATM):c.2808A>G (p.Leu936=)
|
rs547791214
|
|
NM_000051.4(ATM):c.2817C>G (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2817C>T (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2823C>A (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2823C>T (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
|
|
|
NM_000051.4(ATM):c.2832G>C (p.Leu944=)
|
rs2135527476
|
|
NM_000051.4(ATM):c.2838+10G>A
|
rs1555083482
|
|
NM_000051.4(ATM):c.2838+12T>A
|
|
|
NM_000051.4(ATM):c.2838+12T>C
|
|
|
NM_000051.4(ATM):c.2838+16T>C
|
|
|
NM_000051.4(ATM):c.2838+17G>C
|
|
|
NM_000051.4(ATM):c.2838+17G>T
|
|
|
NM_000051.4(ATM):c.2838+8A>G
|
rs1295524564
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
NM_000051.4(ATM):c.2839-11T>A
|
rs1429589119
|
|
NM_000051.4(ATM):c.2839-11T>C
|
|
|
NM_000051.4(ATM):c.2839-12C>G
|
|
|
NM_000051.4(ATM):c.2839-13C>T
|
|
|
NM_000051.4(ATM):c.2839-14T>C
|
|
|
NM_000051.4(ATM):c.2839-15C>T
|
rs2081545815
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2839-577G>A
|
rs2135541900
|
|
NM_000051.4(ATM):c.2839-577G>C
|
rs2135541900
|
|
NM_000051.4(ATM):c.2839-578A>G
|
rs2135541882
|
|
NM_000051.4(ATM):c.2839-581G>A
|
rs2135541843
|
|
NM_000051.4(ATM):c.2839-5C>A
|
rs876660205
|
|
NM_000051.4(ATM):c.2839-5C>G
|
|
|
NM_000051.4(ATM):c.2839-6T>C
|
rs1338486619
|
|
NM_000051.4(ATM):c.2839-7A>G
|
rs1445472389
|
|
NM_000051.4(ATM):c.2839-8C>A
|
rs1555084596
|
|
NM_000051.4(ATM):c.2839-8C>T
|
rs1555084596
|
|
NM_000051.4(ATM):c.2839-9C>T
|
|
|
NM_000051.4(ATM):c.2841T>C (p.Tyr947=)
|
rs1167845678
|
|
NM_000051.4(ATM):c.2842C>T (p.Leu948=)
|
rs1591602173
|
|
NM_000051.4(ATM):c.2844A>C (p.Leu948=)
|
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
NM_000051.4(ATM):c.2856G>A (p.Lys952=)
|
rs2135547604
|
|
NM_000051.4(ATM):c.2862T>G (p.Leu954=)
|
rs1426256662
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2871A>G (p.Glu957=)
|
rs863224291
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2874G>A (p.Glu958=)
|
rs1555084671
|
|
NM_000051.4(ATM):c.2877C>T (p.Tyr959=)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2880C>T (p.Pro960=)
|
rs1591602430
|
|
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
|
|
|
NM_000051.4(ATM):c.288A>G (p.Glu96=)
|
rs1226812648
|
|
NM_000051.4(ATM):c.2895T>C (p.Asp965=)
|
rs1424320755
|
|
NM_000051.4(ATM):c.2901T>G (p.Leu967=)
|
rs778731866
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
NM_000051.4(ATM):c.2916A>T (p.Pro972=)
|
rs2081553201
|
|
NM_000051.4(ATM):c.2917C>T (p.Leu973=)
|
rs535646511
|
|
NM_000051.4(ATM):c.291C>T (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.2921+10T>G
|
rs1060504278
|
|
NM_000051.4(ATM):c.2921+11A>G
|
rs1565424678
|
|
NM_000051.4(ATM):c.2921+15C>T
|
rs1057521619
|
|
NM_000051.4(ATM):c.2921+16C>T
|
rs558376224
|
|
NM_000051.4(ATM):c.2921+18T>C
|
rs1565424709
|
|
NM_000051.4(ATM):c.2921+19A>G
|
|
|
NM_000051.4(ATM):c.2921+19_2921+20del
|
rs2135549382
|
|
NM_000051.4(ATM):c.2921+20T>A
|
|
|
NM_000051.4(ATM):c.2921+20T>C
|
rs2081555059
|
|
NM_000051.4(ATM):c.2921+24_2921+28del
|
rs780315379
|
|
NM_000051.4(ATM):c.2922-10T>C
|
rs2081563514
|
|
NM_000051.4(ATM):c.2922-10T>G
|
rs2081563514
|
|
NM_000051.4(ATM):c.2922-13T>C
|
rs1565424946
|
|
NM_000051.4(ATM):c.2922-14T>C
|
rs761100734
|
|
NM_000051.4(ATM):c.2922-18T>C
|
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
NM_000051.4(ATM):c.2922-5C>T
|
rs1452462211
|
|
NM_000051.4(ATM):c.2922-7A>G
|
|
|
NM_000051.4(ATM):c.2922-7A>T
|
rs1292971489
|
|
NM_000051.4(ATM):c.2922-7dup
|
rs932219783
|
|
NM_000051.4(ATM):c.2922-9T>C
|
rs2135551080
|
|
NM_000051.4(ATM):c.2922C>T (p.Ser974=)
|
rs758045139
|
|
NM_000051.4(ATM):c.2925T>C (p.Asn975=)
|
rs765848319
|
|
NM_000051.4(ATM):c.2928G>A (p.Val976=)
|
rs1591603577
|
|
NM_000051.4(ATM):c.2937G>A (p.Leu979=)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
|
|
|
NM_000051.4(ATM):c.2949C>T (p.Asp983=)
|
rs1555085022
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
NM_000051.4(ATM):c.2955T>C (p.Asp985=)
|
rs1555085034
|
|
NM_000051.4(ATM):c.2967T>G (p.Thr989=)
|
rs144145128
|
|
NM_000051.4(ATM):c.2982C>T (p.Val994=)
|
rs200541844
|
|
NM_000051.4(ATM):c.2985T>A (p.Leu995=)
|
rs1555085087
|
|
NM_000051.4(ATM):c.2988T>C (p.His996=)
|
rs559676197
|
|
NM_000051.4(ATM):c.2991A>G (p.Val997=)
|
rs1203368496
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
NM_000051.4(ATM):c.3003A>C (p.Leu1001=)
|
rs765969190
|
|
NM_000051.4(ATM):c.3006T>C (p.Gly1002=)
|
|
|
NM_000051.4(ATM):c.3009A>G (p.Gln1003=)
|
rs1555085154
|
|
NM_000051.4(ATM):c.300G>A (p.Leu100=)
|
rs878853499
|
|
NM_000051.4(ATM):c.3015T>C (p.Asn1005=)
|
|
|
NM_000051.4(ATM):c.3024T>C (p.Ser1008=)
|
rs1060504274
|
|
NM_000051.4(ATM):c.3024T>G (p.Ser1008=)
|
rs1060504274
|
|
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)
|
rs1060504299
|
|
NM_000051.4(ATM):c.3034A>C (p.Arg1012=)
|
rs752615128
|
|
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
|
|
|
NM_000051.4(ATM):c.3039T>C (p.Asp1013=)
|
rs1591604597
|
|
NM_000051.4(ATM):c.303C>G (p.Val101=)
|
rs1555055291
|
|
NM_000051.4(ATM):c.303C>T (p.Val101=)
|
rs1555055291
|
|
NM_000051.4(ATM):c.3042T>C (p.Ala1014=)
|
rs1555085205
|
|
NM_000051.4(ATM):c.3045A>G (p.Gln1015=)
|
rs1064796404
|
|
NM_000051.4(ATM):c.3048A>G (p.Gly1016=)
|
rs786203820
|
|
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
|
|
|
NM_000051.4(ATM):c.3063A>G (p.Val1021=)
|
rs1591604752
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
NM_000051.4(ATM):c.3069A>G (p.Gly1023=)
|
rs778984289
|
|
NM_000051.4(ATM):c.3072A>G (p.Ala1024=)
|
rs772274328
|
|
NM_000051.4(ATM):c.3077+11T>G
|
|
|
NM_000051.4(ATM):c.3077+12C>G
|
rs2081578131
|
|
NM_000051.4(ATM):c.3077+13dup
|
rs1555085272
|
|
NM_000051.4(ATM):c.3077+14A>G
|
rs977758069
|
|
NM_000051.4(ATM):c.3077+14A>T
|
|
|
NM_000051.4(ATM):c.3077+15T>C
|
rs1555085277
|
|
NM_000051.4(ATM):c.3077+21_3077+23del
|
rs1243820894
|
|
NM_000051.4(ATM):c.3077+3A>G
|
|
|
NM_000051.4(ATM):c.3077+7A>C
|
rs2081577708
|
|
NM_000051.4(ATM):c.3077+7A>G
|
rs2081577708
|
|
NM_000051.4(ATM):c.3077+8C>A
|
rs752601608
|
|
NM_000051.4(ATM):c.3077+8C>T
|
rs752601608
|
|
NM_000051.4(ATM):c.3077+9A>T
|
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
NM_000051.4(ATM):c.3078-12_3078-10del
|
|
|
NM_000051.4(ATM):c.3078-14T>C
|
|
|
NM_000051.4(ATM):c.3078-16A>C
|
|
|
NM_000051.4(ATM):c.3078-19A>C
|
|
|
NM_000051.4(ATM):c.3078-20G>A
|
|
|
NM_000051.4(ATM):c.3078-4T>A
|
|
|
NM_000051.4(ATM):c.3078-4T>G
|
rs1591608166
|
|
NM_000051.4(ATM):c.3078-7A>G
|
|
|
NM_000051.4(ATM):c.3078-7A>T
|
|
|
NM_000051.4(ATM):c.3078-8G>C
|
|
|
NM_000051.4(ATM):c.3081T>C (p.His1027=)
|
rs864622587
|
|
NM_000051.4(ATM):c.3084A>C (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3084A>G (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3087A>C (p.Thr1029=)
|
rs1555085787
|
|
NM_000051.4(ATM):c.3087A>G (p.Thr1029=)
|
rs1555085787
|
|
NM_000051.4(ATM):c.3090G>A (p.Lys1030=)
|
rs1591608292
|
|
NM_000051.4(ATM):c.3093G>A (p.Glu1031=)
|
rs1555085799
|
|
NM_000051.4(ATM):c.3096G>A (p.Arg1032=)
|
rs1555085805
|
|
NM_000051.4(ATM):c.30C>A (p.Ile10=)
|
rs1591445856
|
|
NM_000051.4(ATM):c.30C>T (p.Ile10=)
|
rs1591445856
|
|
NM_000051.4(ATM):c.3111T>C (p.Ser1037=)
|
rs1591608393
|
|
NM_000051.4(ATM):c.3115A>C (p.Arg1039=)
|
rs1060504309
|
|
NM_000051.4(ATM):c.3117A>G (p.Arg1039=)
|
rs55784207
|
|
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
|
|
|
NM_000051.4(ATM):c.312C>T (p.Phe104=)
|
rs1060504310
|
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
|
NM_000051.4(ATM):c.3138T>C (p.Leu1046=)
|
rs3092858
|
|
NM_000051.4(ATM):c.3141A>G (p.Lys1047=)
|
|
|
NM_000051.4(ATM):c.3145T>C (p.Leu1049=)
|
rs1591608635
|
|
NM_000051.4(ATM):c.3153+11G>C
|
|
|
NM_000051.4(ATM):c.3153+12C>T
|
rs2135567275
|
|
NM_000051.4(ATM):c.3153+13A>G
|
|
|
NM_000051.4(ATM):c.3153+15T>G
|
|
|
NM_000051.4(ATM):c.3153+16T>G
|
|
|
NM_000051.4(ATM):c.3153+18T>G
|
rs1555085921
|
|
NM_000051.4(ATM):c.3153+19T>G
|
rs1565428143
|
|
NM_000051.4(ATM):c.3153+20T>A
|
rs200786429
|
|
NM_000051.4(ATM):c.3153+7T>C
|
rs2135567095
|
|
NM_000051.4(ATM):c.3153+7_3153+8insA
|
rs878853500
|
|
NM_000051.4(ATM):c.3153+9T>C
|
rs770464168
|
|
NM_000051.4(ATM):c.3154-10T>C
|
rs2135569357
|
|
NM_000051.4(ATM):c.3154-12C>A
|
|
|
NM_000051.4(ATM):c.3154-12C>T
|
|
|
NM_000051.4(ATM):c.3154-16A>C
|
|
|
NM_000051.4(ATM):c.3154-18del
|
|
|
NM_000051.4(ATM):c.3154-19C>T
|
|
|
NM_000051.4(ATM):c.3154-20C>T
|
rs1057522141
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-7C>T
|
rs756615573
|
|
NM_000051.4(ATM):c.3154-9T>C
|
rs2135569385
|
|
NM_000051.4(ATM):c.315C>T (p.Ile105=)
|
rs1057522344
|
|
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr)
|
rs775095314
|
|
NM_000051.4(ATM):c.3162T>A (p.Pro1054=)
|
|
|
NM_000051.4(ATM):c.3162T>G (p.Pro1054=)
|
rs2081658300
|
|
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
|
|
|
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
|
|
|
NM_000051.4(ATM):c.3177C>G (p.Ala1059=)
|
rs1044910300
|
|
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
|
|
|
NM_000051.4(ATM):c.319T>C (p.Cys107Arg)
|
rs864622508
|
|
NM_000051.4(ATM):c.3201C>T (p.Asp1067=)
|
rs1188674152
|
|
NM_000051.4(ATM):c.3204T>C (p.Phe1068=)
|
rs1555086059
|
|
NM_000051.4(ATM):c.3207T>C (p.Pro1069=)
|
rs878853502
|
|
NM_000051.4(ATM):c.3210A>T (p.Val1070=)
|
rs1443665212
|
|
NM_000051.4(ATM):c.3213T>C (p.Asn1071=)
|
rs786203221
|
|
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
|
|
|
NM_000051.4(ATM):c.3225A>G (p.Thr1075=)
|
rs1555086107
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)
|
|
|
NM_000051.4(ATM):c.3243T>C (p.Asn1081=)
|
rs2135572258
|
|
NM_000051.4(ATM):c.324A>G (p.Ala108=)
|
rs2135038430
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
NM_000051.4(ATM):c.3262T>C (p.Leu1088=)
|
rs2081670323
|
|
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)
|
rs997005308
|
|
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)
|
rs762860946
|
|
NM_000051.4(ATM):c.3276A>G (p.Ser1092=)
|
rs2135573179
|
|
NM_000051.4(ATM):c.3279C>T (p.Ile1093=)
|
|
|
NM_000051.4(ATM):c.3284+10C>G
|
rs2081674914
|
|
NM_000051.4(ATM):c.3284+11A>C
|
rs1565429231
|
|
NM_000051.4(ATM):c.3284+12A>G
|
|
|
NM_000051.4(ATM):c.3284+19A>G
|
rs2135573831
|
|
NM_000051.4(ATM):c.3284+19A>T
|
|
|
NM_000051.4(ATM):c.3284+20T>C
|
rs1448789912
|
|
NM_000051.4(ATM):c.3284+6G>A
|
|
|
NM_000051.4(ATM):c.3284+7G>A
|
rs371629629
|
|
NM_000051.4(ATM):c.3284+8G>A
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.3284+9T>C
|
rs1555086278
|
|
NM_000051.4(ATM):c.3285-12G>A
|
rs1057521452
|
|
NM_000051.4(ATM):c.3285-13_3285-9del
|
rs2082112477
|
|
NM_000051.4(ATM):c.3285-13del
|
rs1245305174
|
|
NM_000051.4(ATM):c.3285-14T>C
|
rs2082112216
|
|
NM_000051.4(ATM):c.3285-16G>C
|
|
|
NM_000051.4(ATM):c.3285-27_3285-16del
|
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
NM_000051.4(ATM):c.3285-7T>C
|
rs913535107
|
|
NM_000051.4(ATM):c.3285-8G>A
|
rs1469259085
|
|
NM_000051.4(ATM):c.3288G>A (p.Leu1096=)
|
rs2135642354
|
|
NM_000051.4(ATM):c.3291C>T (p.Phe1097=)
|
|
|
NM_000051.4(ATM):c.3300G>T (p.Thr1100=)
|
rs587780621
|
|
NM_000051.4(ATM):c.331+10G>C
|
rs755557468
|
|
NM_000051.4(ATM):c.331+11T>C
|
|
|
NM_000051.4(ATM):c.331+12T>C
|
rs2135039169
|
|
NM_000051.4(ATM):c.331+13A>G
|
|
|
NM_000051.4(ATM):c.331+17A>G
|
|
|
NM_000051.4(ATM):c.331+17A>T
|
|
|
NM_000051.4(ATM):c.331+18T>C
|
|
|
NM_000051.4(ATM):c.331+18T>G
|
|
|
NM_000051.4(ATM):c.331+19T>G
|
|
|
NM_000051.4(ATM):c.331+19_331+25del
|
|
|
NM_000051.4(ATM):c.331+20A>G
|
|
|
NM_000051.4(ATM):c.331+21_331+26del
|
rs2078895533
|
|
NM_000051.4(ATM):c.331+8A>G
|
rs878853503
|
|
NM_000051.4(ATM):c.3312T>C (p.Ser1104=)
|
|
|
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
|
|
|
NM_000051.4(ATM):c.3316A>C (p.Arg1106=)
|
rs2135643101
|
|
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
|
|
|
NM_000051.4(ATM):c.332-11T>A
|
|
|
NM_000051.4(ATM):c.332-11T>C
|
rs1565356404
|
|
NM_000051.4(ATM):c.332-15T>G
|
|
|
NM_000051.4(ATM):c.332-16G>C
|
rs2135120413
|
|
NM_000051.4(ATM):c.332-16G>T
|
|
|
NM_000051.4(ATM):c.332-16_332-13del
|
|
|
NM_000051.4(ATM):c.332-20A>G
|
rs1555058985
|
|
NM_000051.4(ATM):c.332-20A>T
|
|
|
NM_000051.4(ATM):c.332-20_332-17del
|
rs898739905
|
|
NM_000051.4(ATM):c.332-4A>T
|
rs2135120646
|
|
NM_000051.4(ATM):c.332-7G>A
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-7G>C
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-7G>T
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-8T>C
|
|
|
NM_000051.4(ATM):c.3321A>G (p.Leu1107=)
|
|
|
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
|
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
NM_000051.4(ATM):c.3330A>C (p.Ala1110=)
|
rs1009383081
|
|
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)
|
|
|
NM_000051.4(ATM):c.3339G>A (p.Leu1113=)
|
rs1591632173
|
|
NM_000051.4(ATM):c.333A>G (p.Arg111=)
|
rs2135120788
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3366T>C (p.Asn1122=)
|
rs2135644622
|
|
NM_000051.4(ATM):c.3369A>T (p.Ala1123=)
|
rs587780543
|
|
NM_000051.4(ATM):c.336A>G (p.Ala112=)
|
rs777759909
|
|
NM_000051.4(ATM):c.336A>T (p.Ala112=)
|
rs777759909
|
|
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=)
|
rs587779833
|
|
NM_000051.4(ATM):c.3375G>A (p.Leu1125=)
|
rs760821273
|
|
NM_000051.4(ATM):c.3381T>C (p.Ala1127=)
|
rs1371503633
|
|
NM_000051.4(ATM):c.339T>C (p.Pro113=)
|
rs1555059023
|
|
NM_000051.4(ATM):c.3402+10A>G
|
rs919002854
|
|
NM_000051.4(ATM):c.3402+13A>C
|
rs2082125198
|
|
NM_000051.4(ATM):c.3402+13A>G
|
|
|
NM_000051.4(ATM):c.3402+16A>T
|
|
|
NM_000051.4(ATM):c.3402+17T>A
|
|
|
NM_000051.4(ATM):c.3402+18G>A
|
rs752000273
|
|
NM_000051.4(ATM):c.3402+18G>C
|
rs752000273
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
NM_000051.4(ATM):c.3403-7T>C
|
rs1335592958
|
|
NM_000051.4(ATM):c.3403-8T>C
|
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
NM_000051.4(ATM):c.3403-9C>A
|
rs375483605
|
|
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
|
|
|
NM_000051.4(ATM):c.3405C>T (p.Ser1135=)
|
rs746829748
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
NM_000051.4(ATM):c.3420C>T (p.Asn1140=)
|
rs1329688204
|
|
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
|
|
|
NM_000051.4(ATM):c.342G>A (p.Arg114=)
|
rs1555059036
|
|
NM_000051.4(ATM):c.3430T>C (p.Leu1144=)
|
rs2135665912
|
|
NM_000051.4(ATM):c.3435T>C (p.Asp1145=)
|
rs2082204446
|
|
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=)
|
rs1591636407
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3450A>G (p.Arg1150=)
|
rs2135666527
|
|
NM_000051.4(ATM):c.345A>C (p.Leu115=)
|
|
|
NM_000051.4(ATM):c.345A>G (p.Leu115=)
|
rs2079235213
|
|
NM_000051.4(ATM):c.3460T>C (p.Leu1154=)
|
rs1591636498
|
|
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)
|
rs1555091217
|
|
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
|
|
|
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)
|
rs878853504
|
|
NM_000051.4(ATM):c.3480G>A (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3480G>T (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3484T>C (p.Leu1162=)
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
NM_000051.4(ATM):c.3495C>T (p.Ser1165=)
|
rs878853505
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
NM_000051.4(ATM):c.3501C>A (p.Ile1167=)
|
|
|
NM_000051.4(ATM):c.3501C>T (p.Ile1167=)
|
rs1555091279
|
|
NM_000051.4(ATM):c.3507A>G (p.Glu1169=)
|
rs1555091291
|
|
NM_000051.4(ATM):c.3513G>A (p.Gln1171=)
|
rs757201878
|
|
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
|
|
|
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
|
|
|
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
|
|
|
NM_000051.4(ATM):c.3528G>T (p.Leu1176=)
|
rs748335454
|
|
NM_000051.4(ATM):c.3531T>C (p.Cys1177=)
|
rs876659546
|
|
NM_000051.4(ATM):c.3534A>G (p.Lys1178=)
|
|
|
NM_000051.4(ATM):c.3543A>G (p.Lys1181=)
|
rs1555091382
|
|
NM_000051.4(ATM):c.354A>G (p.Gln118=)
|
rs1188306380
|
|
NM_000051.4(ATM):c.3553T>C (p.Leu1185=)
|
|
|
NM_000051.4(ATM):c.3570G>A (p.Val1190=)
|
rs1347241379
|
|
NM_000051.4(ATM):c.3576+10G>T
|
|
|
NM_000051.4(ATM):c.3576+12_3576+14del
|
|
|
NM_000051.4(ATM):c.3576+7A>G
|
rs761486334
|
|
NM_000051.4(ATM):c.3576+8T>C
|
rs1591637198
|
|
NM_000051.4(ATM):c.3577-10G>A
|
rs1343046904
|
|
NM_000051.4(ATM):c.3577-10G>C
|
|
|
NM_000051.4(ATM):c.3577-11G>C
|
rs2135685988
|
|
NM_000051.4(ATM):c.3577-13_3577-12del
|
rs730881288
|
|
NM_000051.4(ATM):c.3577-14T>C
|
rs2082292356
|
|
NM_000051.4(ATM):c.3577-15T>C
|
rs1057521733
|
|
NM_000051.4(ATM):c.3577-16T>A
|
|
|
NM_000051.4(ATM):c.3577-16T>G
|
|
|
NM_000051.4(ATM):c.3577-17del
|
|
|
NM_000051.4(ATM):c.3577-18A>G
|
rs2135685737
|
|
NM_000051.4(ATM):c.3577-19G>A
|
|
|
NM_000051.4(ATM):c.3577-20T>G
|
rs921452019
|
|
NM_000051.4(ATM):c.3577-4G>T
|
rs2135686331
|
|
NM_000051.4(ATM):c.3577-5T>C
|
rs1555092229
|
|
NM_000051.4(ATM):c.3577-6G>C
|
|
|
NM_000051.4(ATM):c.3577-8T>C
|
rs1555092222
|
|
NM_000051.4(ATM):c.3577-9T>G
|
|
|
NM_000051.4(ATM):c.3579T>G (p.Val1193=)
|
rs1555092241
|
|
NM_000051.4(ATM):c.3582A>G (p.Leu1194=)
|
rs1591640938
|
|
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
|
|
|
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)
|
rs1555092263
|
|
NM_000051.4(ATM):c.3597A>G (p.Glu1199=)
|
rs2135687051
|
|
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)
|
|
|
NM_000051.4(ATM):c.3603T>C (p.Phe1201=)
|
rs1591641079
|
|
NM_000051.4(ATM):c.3606A>C (p.Gly1202=)
|
rs1189826741
|
|
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
|
|
|
NM_000051.4(ATM):c.360C>G (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.360C>T (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
|
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
NM_000051.4(ATM):c.361T>C (p.Leu121=)
|
rs587782178
|
|
NM_000051.4(ATM):c.3621A>G (p.Glu1207=)
|
rs2135687824
|
|
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
|
|
|
NM_000051.4(ATM):c.3633A>G (p.Ala1211=)
|
rs2135688329
|
|
NM_000051.4(ATM):c.3636T>C (p.Ser1212=)
|
rs2135688431
|
|
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)
|
|
|
NM_000051.4(ATM):c.3654T>A (p.Val1218=)
|
rs2135688939
|
|
NM_000051.4(ATM):c.3660A>G (p.Glu1220=)
|
rs876660835
|
|
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
|
|
|
NM_000051.4(ATM):c.3669T>C (p.Asn1223=)
|
rs1591641397
|
|
NM_000051.4(ATM):c.3678T>C (p.Asp1226=)
|
rs1591641476
|
|
NM_000051.4(ATM):c.3681T>C (p.Thr1227=)
|
rs1388109606
|
|
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=)
|
rs2082303743
|
|
NM_000051.4(ATM):c.3690C>T (p.Asn1230=)
|
rs1555092475
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
NM_000051.4(ATM):c.36C>T (p.Cys12=)
|
rs2135005147
|
|
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
|
|
|
NM_000051.4(ATM):c.372C>T (p.Ile124=)
|
rs773495195
|
|
NM_000051.4(ATM):c.3732T>C (p.Ile1244=)
|
rs2135690957
|
|
NM_000051.4(ATM):c.3741C>T (p.Phe1247=)
|
rs780396420
|
|
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)
|
rs1555092589
|
|
NM_000051.4(ATM):c.3746+10T>C
|
|
|
NM_000051.4(ATM):c.3746+11A>G
|
rs2082309757
|
|
NM_000051.4(ATM):c.3746+13A>G
|
rs777055245
|
|
NM_000051.4(ATM):c.3746+15_3746+19del
|
|
|
NM_000051.4(ATM):c.3746+16A>G
|
|
|
NM_000051.4(ATM):c.3746+18A>G
|
rs2082310429
|
|
NM_000051.4(ATM):c.3746+18A>T
|
|
|
NM_000051.4(ATM):c.3746+19T>A
|
|
|
NM_000051.4(ATM):c.3746+19T>C
|
|
|
NM_000051.4(ATM):c.3746+20A>G
|
rs1555092607
|
|
NM_000051.4(ATM):c.3746+20_3746+21del
|
rs2135691794
|
|
NM_000051.4(ATM):c.3746+7T>G
|
|
|
NM_000051.4(ATM):c.3746+8T>G
|
|
|
NM_000051.4(ATM):c.3746+9A>G
|
|
|
NM_000051.4(ATM):c.3747-10C>A
|
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
NM_000051.4(ATM):c.3747-10C>T
|
|
|
NM_000051.4(ATM):c.3747-11T>C
|
rs2135703873
|
|
NM_000051.4(ATM):c.3747-14T>G
|
rs2082371250
|
|
NM_000051.4(ATM):c.3747-16A>T
|
|
|
NM_000051.4(ATM):c.3747-19T>C
|
|
|
NM_000051.4(ATM):c.3747-7T>C
|
rs1057523136
|
|
NM_000051.4(ATM):c.3750T>C (p.Ser1250=)
|
rs2135704195
|
|
NM_000051.4(ATM):c.3753T>C (p.Cys1251=)
|
rs2135704274
|
|
NM_000051.4(ATM):c.3768T>A (p.Ile1256=)
|
rs765538231
|
|
NM_000051.4(ATM):c.3771A>G (p.Pro1257=)
|
rs1057523320
|
|
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)
|
|
|
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
|
|
|
NM_000051.4(ATM):c.3780G>A (p.Val1260=)
|
rs2135705020
|
|
NM_000051.4(ATM):c.3783T>C (p.Ile1261=)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3786A>G (p.Arg1262=)
|
rs2135705167
|
|
NM_000051.4(ATM):c.3789T>C (p.Ser1263=)
|
|
|
NM_000051.4(ATM):c.3792T>C (p.His1264=)
|
rs2135705306
|
|
NM_000051.4(ATM):c.3807G>A (p.Lys1269=)
|
rs2135705663
|
|
NM_000051.4(ATM):c.3810C>A (p.Ser1270=)
|
rs2135705736
|
|
NM_000051.4(ATM):c.3810C>T (p.Ser1270=)
|
rs2135705736
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)
|
|
|
NM_000051.4(ATM):c.381A>C (p.Thr127=)
|
|
|
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
|
|
|
NM_000051.4(ATM):c.3828A>G (p.Gln1276=)
|
rs1318728821
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
NM_000051.4(ATM):c.3834C>T (p.Asp1278=)
|
|
|
NM_000051.4(ATM):c.3840A>G (p.Lys1280=)
|
rs2135706465
|
|
NM_000051.4(ATM):c.3846T>C (p.Leu1282=)
|
rs2135706640
|
|
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)
|
|
|
NM_000051.4(ATM):c.3849A>G (p.Leu1283=)
|
rs1591645848
|
|
NM_000051.4(ATM):c.384G>A (p.Val128=)
|
rs1555059177
|
|
NM_000051.4(ATM):c.384G>C (p.Val128=)
|
rs1555059177
|
|
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
|
|
|
NM_000051.4(ATM):c.3882T>C (p.Ile1294=)
|
rs1167387894
|
|
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)
|
rs1555093582
|
|
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=)
|
rs2135707669
|
|
NM_000051.4(ATM):c.3897C>A (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3897C>G (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3909C>T (p.Thr1303=)
|
rs1555093618
|
|
NM_000051.4(ATM):c.3915C>T (p.Asp1305=)
|
rs1429663437
|
|
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)
|
rs1555093665
|
|
NM_000051.4(ATM):c.3933A>G (p.Gln1311=)
|
rs1060504304
|
|
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
|
|
|
NM_000051.4(ATM):c.3945T>A (p.Ala1315=)
|
rs2135709163
|
|
NM_000051.4(ATM):c.3948C>T (p.Thr1316=)
|
rs2135709208
|
|
NM_000051.4(ATM):c.3954C>T (p.Val1318=)
|
|
|
NM_000051.4(ATM):c.3960T>C (p.Asp1320=)
|
rs995275833
|
|
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
|
|
|
NM_000051.4(ATM):c.3979T>C (p.Leu1327=)
|
rs2135709876
|
|
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
|
|
|
NM_000051.4(ATM):c.3984G>A (p.Leu1328=)
|
rs1591646593
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3993+12A>G
|
rs1057520703
|
|
NM_000051.4(ATM):c.3993+12A>T
|
|
|
NM_000051.4(ATM):c.3993+19T>C
|
|
|
NM_000051.4(ATM):c.3993+20G>A
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
NM_000051.4(ATM):c.3993+6G>C
|
|
|
NM_000051.4(ATM):c.3993+6G>T
|
rs878853508
|
|
NM_000051.4(ATM):c.3993+9T>C
|
rs2135710402
|
|
NM_000051.4(ATM):c.3994-10G>C
|
rs186589241
|
|
NM_000051.4(ATM):c.3994-11T>G
|
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-12G>A
|
rs1057520398
|
|
NM_000051.4(ATM):c.3994-12G>T
|
rs1057520398
|
|
NM_000051.4(ATM):c.3994-14T>A
|
|
|
NM_000051.4(ATM):c.3994-14T>G
|
rs1255634399
|
|
NM_000051.4(ATM):c.3994-15T>A
|
rs2135734597
|
|
NM_000051.4(ATM):c.3994-16T>A
|
|
|
NM_000051.4(ATM):c.3994-18A>T
|
|
|
NM_000051.4(ATM):c.3994-4G>C
|
rs1060504259
|
|
NM_000051.4(ATM):c.3994-8C>T
|
rs2135734775
|
|
NM_000051.4(ATM):c.3994-9C>A
|
rs767111803
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.3996T>C (p.Ile1332=)
|
rs1180449859
|
|
NM_000051.4(ATM):c.3999T>C (p.Asp1333=)
|
rs1591655534
|
|
NM_000051.4(ATM):c.399T>C (p.Asn133=)
|
|
|
NM_000051.4(ATM):c.4002C>T (p.His1334=)
|
rs876659622
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
NM_000051.4(ATM):c.4029T>C (p.Ile1343=)
|
rs2135735847
|
|
NM_000051.4(ATM):c.402T>C (p.Gly134=)
|
|
|
NM_000051.4(ATM):c.402T>G (p.Gly134=)
|
rs2135123141
|
|
NM_000051.4(ATM):c.4032G>A (p.Val1344=)
|
rs769871715
|
|
NM_000051.4(ATM):c.4035G>A (p.Val1345=)
|
rs2135735989
|
|
NM_000051.4(ATM):c.4038G>A (p.Glu1346=)
|
rs1591655790
|
|
NM_000051.4(ATM):c.4053A>G (p.Leu1351=)
|
rs1565452695
|
|
NM_000051.4(ATM):c.405T>G (p.Ala135=)
|
rs2135123254
|
|
NM_000051.4(ATM):c.4062A>C (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.4062A>T (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
|
|
|
NM_000051.4(ATM):c.4077C>G (p.Ala1359=)
|
rs375606854
|
|
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)
|
rs863224570
|
|
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
|
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
NM_000051.4(ATM):c.4092C>T (p.Asp1364=)
|
rs876660956
|
|
NM_000051.4(ATM):c.4095C>G (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4095C>T (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4104T>C (p.Phe1368=)
|
rs569614591
|
|
NM_000051.4(ATM):c.4107A>G (p.Ser1369=)
|
rs2135738048
|
|
NM_000051.4(ATM):c.4109+11T>G
|
rs749158400
|
|
NM_000051.4(ATM):c.4109+13T>C
|
rs2082569194
|
|
NM_000051.4(ATM):c.4109+17C>G
|
|
|
NM_000051.4(ATM):c.4109+19T>C
|
|
|
NM_000051.4(ATM):c.4109+20dup
|
|
|
NM_000051.4(ATM):c.4109+7A>G
|
rs2135738309
|
|
NM_000051.4(ATM):c.4109+8C>A
|
rs1591656404
|
|
NM_000051.4(ATM):c.4109+8C>T
|
rs1591656404
|
|
NM_000051.4(ATM):c.4109+9A>G
|
rs730881289
|
|
NM_000051.4(ATM):c.4110-11A>G
|
|
|
NM_000051.4(ATM):c.4110-11A>T
|
rs760715107
|
|
NM_000051.4(ATM):c.4110-12T>C
|
rs2135749934
|
|
NM_000051.4(ATM):c.4110-14C>T
|
|
|
NM_000051.4(ATM):c.4110-16C>A
|
rs2135749803
|
|
NM_000051.4(ATM):c.4110-4T>G
|
rs777186156
|
|
NM_000051.4(ATM):c.4110-5G>C
|
|
|
NM_000051.4(ATM):c.4110-6T>C
|
rs1060504277
|
|
NM_000051.4(ATM):c.4110-8T>C
|
rs2135750082
|
|
NM_000051.4(ATM):c.4110-9C>T
|
rs730881367
|
|
NM_000051.4(ATM):c.4125T>A (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4125T>C (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4128T>G (p.Pro1376=)
|
rs2135750893
|
|
NM_000051.4(ATM):c.4131T>C (p.Asn1377=)
|
rs2082639582
|
|
NM_000051.4(ATM):c.4134A>G (p.Pro1378=)
|
rs1591660328
|
|
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)
|
rs752460436
|
|
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
|
|
|
NM_000051.4(ATM):c.4149G>T (p.Ser1383=)
|
rs749180334
|
|
NM_000051.4(ATM):c.4152T>C (p.His1384=)
|
rs1555096888
|
|
NM_000051.4(ATM):c.4155G>A (p.Val1385=)
|
rs2082641997
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4173C>T (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4179C>T (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4185T>C (p.Asn1395=)
|
rs2135752553
|
|
NM_000051.4(ATM):c.4188T>C (p.Cys1396=)
|
rs1565455129
|
|
NM_000051.4(ATM):c.4197C>T (p.Thr1399=)
|
rs2135752951
|
|
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
|
|
|
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)
|
|
|
NM_000051.4(ATM):c.4209C>T (p.Ser1403=)
|
rs876658701
|
|
NM_000051.4(ATM):c.420T>C (p.Asp140=)
|
rs1591475108
|
|
NM_000051.4(ATM):c.4227C>G (p.Ser1409=)
|
rs1555097018
|
|
NM_000051.4(ATM):c.4227C>T (p.Ser1409=)
|
rs1555097018
|
|
NM_000051.4(ATM):c.4236+10C>T
|
rs2135754219
|
|
NM_000051.4(ATM):c.4236+13G>C
|
rs2135754357
|
|
NM_000051.4(ATM):c.4236+15_4236+17del
|
rs1064794349
|
|
NM_000051.4(ATM):c.4236+16G>A
|
rs2135754395
|
|
NM_000051.4(ATM):c.4236+17A>T
|
|
|
NM_000051.4(ATM):c.4236+18G>A
|
|
|
NM_000051.4(ATM):c.4236+19T>G
|
rs2082650329
|
|
NM_000051.4(ATM):c.4236+9A>G
|
rs1591661022
|
|
NM_000051.4(ATM):c.4236+9dup
|
rs2135754201
|
|
NM_000051.4(ATM):c.4237-10T>C
|
rs1312684854
|
|
NM_000051.4(ATM):c.4237-12T>C
|
|
|
NM_000051.4(ATM):c.4237-13G>T
|
|
|
NM_000051.4(ATM):c.4237-13_4237-10del
|
|
|
NM_000051.4(ATM):c.4237-13_4237-12del
|
rs1555097353
|
|
NM_000051.4(ATM):c.4237-14T>G
|
|
|
NM_000051.4(ATM):c.4237-16T>A
|
|
|
NM_000051.4(ATM):c.4237-16T>C
|
|
|
NM_000051.4(ATM):c.4237-18A>C
|
rs756842639
|
|
NM_000051.4(ATM):c.4237-18_4237-17del
|
|
|
NM_000051.4(ATM):c.4237-19A>C
|
rs753311330
|
|
NM_000051.4(ATM):c.4237-19A>G
|
rs753311330
|
|
NM_000051.4(ATM):c.4237-20T>C
|
rs2135758679
|
|
NM_000051.4(ATM):c.4237-20T>G
|
|
|
NM_000051.4(ATM):c.4237-7T>C
|
rs1439775115
|
|
NM_000051.4(ATM):c.4237-8T>A
|
|
|
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)
|
rs1565455938
|
|
NM_000051.4(ATM):c.4242C>T (p.Ser1414=)
|
rs2135759239
|
|
NM_000051.4(ATM):c.4248G>A (p.Gln1416=)
|
rs1233637041
|
|
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
|
|
|
NM_000051.4(ATM):c.4260T>C (p.Leu1420=)
|
rs2135759675
|
|
NM_000051.4(ATM):c.4263C>T (p.Ala1421=)
|
rs1373073134
|
|
NM_000051.4(ATM):c.4278A>G (p.Ala1426=)
|
rs2135760176
|
|
NM_000051.4(ATM):c.4281T>C (p.Ala1427=)
|
rs876659745
|
|
NM_000051.4(ATM):c.4290T>C (p.Asn1430=)
|
rs1431970078
|
|
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
|
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.429C>T (p.Asn143=)
|
rs1416280463
|
|
NM_000051.4(ATM):c.4302G>A (p.Lys1434=)
|
rs876658751
|
|
NM_000051.4(ATM):c.4308C>T (p.His1436=)
|
rs1591662977
|
|
NM_000051.4(ATM):c.4311A>G (p.Arg1437=)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4317T>G (p.Leu1439=)
|
rs2135761736
|
|
NM_000051.4(ATM):c.4323A>T (p.Ile1441=)
|
rs587779839
|
|
NM_000051.4(ATM):c.4329C>T (p.His1443=)
|
|
|
NM_000051.4(ATM):c.432A>T (p.Ile144=)
|
|
|
NM_000051.4(ATM):c.4330C>T (p.Leu1444=)
|
rs2135762205
|
|
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)
|
rs753570046
|
|
NM_000051.4(ATM):c.4335T>C (p.Phe1445=)
|
rs761225071
|
|
NM_000051.4(ATM):c.4338T>A (p.Val1446=)
|
rs2135762761
|
|
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)
|
|
|
NM_000051.4(ATM):c.4350G>A (p.Leu1450=)
|
rs1565456541
|
|
NM_000051.4(ATM):c.435A>C (p.Leu145=)
|
rs775476710
|
|
NM_000051.4(ATM):c.435A>G (p.Leu145=)
|
rs775476710
|
|
NM_000051.4(ATM):c.4362A>G (p.Lys1454=)
|
rs148993589
|
|
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)
|
|
|
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
|
|
|
NM_000051.4(ATM):c.4371A>G (p.Leu1457=)
|
|
|
NM_000051.4(ATM):c.4386C>A (p.Ala1462=)
|
rs1433672958
|
|
NM_000051.4(ATM):c.4386C>G (p.Ala1462=)
|
|
|
NM_000051.4(ATM):c.4386C>T (p.Ala1462=)
|
rs1433672958
|
|
NM_000051.4(ATM):c.4389T>C (p.Phe1463=)
|
rs1555097753
|
|
NM_000051.4(ATM):c.438C>G (p.Leu146=)
|
rs1591475272
|
|
NM_000051.4(ATM):c.438C>T (p.Leu146=)
|
rs1591475272
|
|
NM_000051.4(ATM):c.4396C>A (p.Arg1466=)
|
rs730881369
|
|
NM_000051.4(ATM):c.4398A>T (p.Arg1466=)
|
rs142728382
|
|
NM_000051.4(ATM):c.4404T>C (p.Val1468=)
|
rs1555097801
|
|
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)
|
rs1057521912
|
|
NM_000051.4(ATM):c.4413T>G (p.Thr1471=)
|
rs2135766153
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
NM_000051.4(ATM):c.441A>G (p.Lys147=)
|
rs1555059372
|
|
NM_000051.4(ATM):c.4422C>T (p.His1474=)
|
rs1555097849
|
|
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=)
|
rs2135766671
|
|
NM_000051.4(ATM):c.4431C>T (p.Asn1477=)
|
rs571989748
|
|
NM_000051.4(ATM):c.4434A>G (p.Gln1478=)
|
rs2082686560
|
|
NM_000051.4(ATM):c.4434A>T (p.Gln1478His)
|
rs2082686560
|
|
NM_000051.4(ATM):c.4436+10A>T
|
|
|
NM_000051.4(ATM):c.4436+12A>G
|
rs1057521715
|
|
NM_000051.4(ATM):c.4436+13T>C
|
rs1555097905
|
|
NM_000051.4(ATM):c.4436+14T>G
|
rs762832046
|
|
NM_000051.4(ATM):c.4436+15T>C
|
|
|
NM_000051.4(ATM):c.4436+16A>G
|
|
|
NM_000051.4(ATM):c.4436+17G>C
|
|
|
NM_000051.4(ATM):c.4436+18A>T
|
rs1317954521
|
|
NM_000051.4(ATM):c.4436+19C>G
|
rs539302674
|
|
NM_000051.4(ATM):c.4436+19C>T
|
rs539302674
|
|
NM_000051.4(ATM):c.4436+5A>G
|
rs2082687178
|
|
NM_000051.4(ATM):c.4436+7A>G
|
rs749971237
|
|
NM_000051.4(ATM):c.4436+9C>T
|
rs1565457090
|
|
NM_000051.4(ATM):c.4437-10C>A
|
rs1397770130
|
|
NM_000051.4(ATM):c.4437-10C>T
|
rs1397770130
|
|
NM_000051.4(ATM):c.4437-13C>T
|
rs769462032
|
|
NM_000051.4(ATM):c.4437-15T>G
|
|
|
NM_000051.4(ATM):c.4437-5A>G
|
rs876658290
|
|
NM_000051.4(ATM):c.4437-7A>C
|
rs370354306
|
|
NM_000051.4(ATM):c.4437-7dup
|
rs1565460797
|
|
NM_000051.4(ATM):c.4437G>A (p.Arg1479=)
|
rs1591673584
|
|
NM_000051.4(ATM):c.4443T>C (p.Ser1481=)
|
rs2135797265
|
|
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)
|
|
|
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
|
|
|
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
|
|
|
NM_000051.4(ATM):c.444C>T (p.Asp148=)
|
|
|
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
|
|
|
NM_000051.4(ATM):c.4458G>A (p.Val1486=)
|
rs1591673788
|
|
NM_000051.4(ATM):c.4458G>T (p.Val1486=)
|
rs1591673788
|
|
NM_000051.4(ATM):c.4461A>G (p.Ser1487=)
|
rs2082859007
|
|
NM_000051.4(ATM):c.4462T>C (p.Leu1488=)
|
rs1591673809
|
|
NM_000051.4(ATM):c.4470C>T (p.Ser1490=)
|
rs2135798259
|
|
NM_000051.4(ATM):c.4485T>C (p.Cys1495=)
|
rs2135798721
|
|
NM_000051.4(ATM):c.4488C>T (p.Asp1496=)
|
rs772833802
|
|
NM_000051.4(ATM):c.4489T>C (p.Leu1497=)
|
|
|
NM_000051.4(ATM):c.4491A>G (p.Leu1497=)
|
rs878853511
|
|
NM_000051.4(ATM):c.4506C>T (p.Cys1502=)
|
rs876659908
|
|
NM_000051.4(ATM):c.4515C>G (p.Ala1505=)
|
rs540798997
|
|
NM_000051.4(ATM):c.4518G>C (p.Val1506=)
|
rs1057524110
|
|
NM_000051.4(ATM):c.4518G>T (p.Val1506=)
|
rs1057524110
|
|
NM_000051.4(ATM):c.4521T>C (p.Thr1507=)
|
|
|
NM_000051.4(ATM):c.4521T>G (p.Thr1507=)
|
rs1555099885
|
|
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4536T>C (p.Ala1512=)
|
rs1555099909
|
|
NM_000051.4(ATM):c.4537C>T (p.Leu1513=)
|
rs2082867393
|
|
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
|
|
|
NM_000051.4(ATM):c.453T>C (p.Ser151=)
|
rs2135125035
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4551T>C (p.Leu1517=)
|
rs1459998980
|
|
NM_000051.4(ATM):c.4557T>A (p.Val1519=)
|
rs2135801173
|
|
NM_000051.4(ATM):c.4560T>C (p.Ile1520=)
|
rs1057520925
|
|
NM_000051.4(ATM):c.4569A>C (p.Thr1523=)
|
rs1555099963
|
|
NM_000051.4(ATM):c.4578C>A (p.Pro1526=)
|
rs1800889
|
|
NM_000051.4(ATM):c.4584G>A (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4584G>T (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4590G>A (p.Glu1530=)
|
|
|
NM_000051.4(ATM):c.4593G>A (p.Gln1531=)
|
rs1591674814
|
|
NM_000051.4(ATM):c.4599G>A (p.Glu1533=)
|
rs1274454004
|
|
NM_000051.4(ATM):c.459A>G (p.Arg153=)
|
rs2135125274
|
|
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)
|
|
|
NM_000051.4(ATM):c.4611+10T>A
|
|
|
NM_000051.4(ATM):c.4611+11G>T
|
rs2135803264
|
|
NM_000051.4(ATM):c.4611+12A>G
|
rs1057520230
|
|
NM_000051.4(ATM):c.4611+12A>T
|
|
|
NM_000051.4(ATM):c.4611+14T>C
|
|
|
NM_000051.4(ATM):c.4611+14T>G
|
rs1270804277
|
|
NM_000051.4(ATM):c.4611+15C>G
|
|
|
NM_000051.4(ATM):c.4611+15C>T
|
|
|
NM_000051.4(ATM):c.4611+16A>G
|
rs2082875990
|
|
NM_000051.4(ATM):c.4611+17T>A
|
|
|
NM_000051.4(ATM):c.4611+17T>C
|
rs768500911
|
|
NM_000051.4(ATM):c.4611+18C>G
|
|
|
NM_000051.4(ATM):c.4611+18C>T
|
rs1057522843
|
|
NM_000051.4(ATM):c.4611+8T>C
|
rs1057522426
|
|
NM_000051.4(ATM):c.4611+8T>G
|
rs1057522426
|
|
NM_000051.4(ATM):c.4612-10T>C
|
rs2135809073
|
|
NM_000051.4(ATM):c.4612-12A>T
|
rs1326401118
|
|
NM_000051.4(ATM):c.4612-14T>C
|
|
|
NM_000051.4(ATM):c.4612-18T>C
|
|
|
NM_000051.4(ATM):c.4612-19C>A
|
rs1336477936
|
|
NM_000051.4(ATM):c.4612-4T>A
|
rs569983068
|
|
NM_000051.4(ATM):c.4612-5T>C
|
|
|
NM_000051.4(ATM):c.4612-6A>G
|
rs2135809248
|
|
NM_000051.4(ATM):c.4612-8A>G
|
rs1555100341
|
|
NM_000051.4(ATM):c.4612-9T>C
|
|
|
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)
|
rs1329153013
|
|
NM_000051.4(ATM):c.4624T>C (p.Leu1542=)
|
rs876658826
|
|
NM_000051.4(ATM):c.462A>G (p.Lys154=)
|
rs876659923
|
|
NM_000051.4(ATM):c.4632C>T (p.Tyr1544=)
|
rs2135810212
|
|
NM_000051.4(ATM):c.4635A>G (p.Leu1545=)
|
rs2135810263
|
|
NM_000051.4(ATM):c.4647C>T (p.Asn1549=)
|
rs1300874775
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
NM_000051.4(ATM):c.465C>T (p.Tyr155=)
|
rs2079245609
|
|
NM_000051.4(ATM):c.4665C>G (p.Leu1555=)
|
rs374431061
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
NM_000051.4(ATM):c.4671C>A (p.Ile1557=)
|
rs966733287
|
|
NM_000051.4(ATM):c.4677T>C (p.Ile1559=)
|
rs759660081
|
|
NM_000051.4(ATM):c.4680G>A (p.Lys1560=)
|
rs2135811674
|
|
NM_000051.4(ATM):c.4683T>C (p.Leu1561=)
|
rs2135811760
|
|
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
|
|
|
NM_000051.4(ATM):c.4701C>T (p.Asp1567=)
|
rs1591677421
|
|
NM_000051.4(ATM):c.4704T>C (p.His1568=)
|
rs1057522200
|
|
NM_000051.4(ATM):c.4707T>G (p.Val1569=)
|
rs1591677478
|
|
NM_000051.4(ATM):c.471T>C (p.Cys157=)
|
|
|
NM_000051.4(ATM):c.4728T>C (p.Ile1576=)
|
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000051.4(ATM):c.4731T>G (p.Thr1577=)
|
|
|
NM_000051.4(ATM):c.4740A>G (p.Lys1580=)
|
rs2082923397
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=)
|
rs1555100597
|
|
NM_000051.4(ATM):c.4752T>C (p.Ser1584=)
|
rs1555100601
|
|
NM_000051.4(ATM):c.4758A>T (p.Gly1586=)
|
rs2135813614
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
NM_000051.4(ATM):c.4767A>G (p.Ser1589=)
|
rs1591677805
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
NM_000051.4(ATM):c.4776+10A>T
|
rs2135814400
|
|
NM_000051.4(ATM):c.4776+10del
|
rs878853512
|
|
NM_000051.4(ATM):c.4776+15A>G
|
|
|
NM_000051.4(ATM):c.4776+17C>T
|
|
|
NM_000051.4(ATM):c.4776+18_4776+20del
|
|
|
NM_000051.4(ATM):c.4776+20C>T
|
|
|
NM_000051.4(ATM):c.4776+23_4776+25del
|
rs770860526
|
|
NM_000051.4(ATM):c.4776+7A>C
|
rs2082927524
|
|
NM_000051.4(ATM):c.4776+9A>G
|
rs2135814376
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.4777-11T>G
|
|
|
NM_000051.4(ATM):c.4777-13_4777-10dup
|
|
|
NM_000051.4(ATM):c.4777-14A>G
|
|
|
NM_000051.4(ATM):c.4777-16A>G
|
rs942981609
|
|
NM_000051.4(ATM):c.4777-7C>G
|
rs1565465976
|
|
NM_000051.4(ATM):c.4777-7C>T
|
rs1565465976
|
|
NM_000051.4(ATM):c.4777-9C>T
|
rs1214975942
|
|
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
|
|
|
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
|
|
|
NM_000051.4(ATM):c.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
NM_000051.4(ATM):c.480T>A (p.Ser160=)
|
rs2135125892
|
|
NM_000051.4(ATM):c.480T>C (p.Ser160=)
|
rs2135125892
|
|
NM_000051.4(ATM):c.4815A>C (p.Ala1605=)
|
rs1591684513
|
|
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)
|
rs772074468
|
|
NM_000051.4(ATM):c.4824G>A (p.Leu1608=)
|
rs1239479673
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4833T>C (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4833T>G (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4836A>G (p.Glu1612=)
|
rs2135835525
|
|
NM_000051.4(ATM):c.483G>A (p.Gln161=)
|
rs864622742
|
|
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)
|
rs777239020
|
|
NM_000051.4(ATM):c.4842A>G (p.Leu1614=)
|
rs1057520429
|
|
NM_000051.4(ATM):c.4848T>C (p.Asp1616=)
|
rs2083040302
|
|
NM_000051.4(ATM):c.4854A>T (p.Arg1618=)
|
|
|
NM_000051.4(ATM):c.4857A>G (p.Arg1619=)
|
rs1555101850
|
|
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)
|
rs1057520446
|
|
NM_000051.4(ATM):c.4861C>T (p.Leu1621=)
|
rs759289039
|
|
NM_000051.4(ATM):c.4863G>C (p.Leu1621=)
|
rs2135836530
|
|
NM_000051.4(ATM):c.4866A>G (p.Glu1622=)
|
rs2135836682
|
|
NM_000051.4(ATM):c.4869A>C (p.Leu1623=)
|
rs767084038
|
|
NM_000051.4(ATM):c.4869A>G (p.Leu1623=)
|
rs767084038
|
|
NM_000051.4(ATM):c.486A>G (p.Gln162=)
|
|
|
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)
|
rs1591685165
|
|
NM_000051.4(ATM):c.4893T>A (p.Ile1631=)
|
rs1591685188
|
|
NM_000051.4(ATM):c.4893T>C (p.Ile1631=)
|
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4902T>C (p.Ala1634=)
|
rs2135838120
|
|
NM_000051.4(ATM):c.4909+10T>G
|
rs2135838699
|
|
NM_000051.4(ATM):c.4909+11T>A
|
|
|
NM_000051.4(ATM):c.4909+11T>C
|
|
|
NM_000051.4(ATM):c.4909+14A>G
|
|
|
NM_000051.4(ATM):c.4909+14A>T
|
|
|
NM_000051.4(ATM):c.4909+15T>A
|
|
|
NM_000051.4(ATM):c.4909+17A>G
|
rs550300834
|
|
NM_000051.4(ATM):c.4909+18C>T
|
|
|
NM_000051.4(ATM):c.4909+19A>G
|
|
|
NM_000051.4(ATM):c.4909+19A>T
|
rs747032236
|
|
NM_000051.4(ATM):c.4909+20T>C
|
rs1401279002
|
|
NM_000051.4(ATM):c.4909+6A>G
|
rs2083048548
|
|
NM_000051.4(ATM):c.4909+7A>G
|
rs2135838624
|
|
NM_000051.4(ATM):c.4909+8T>C
|
|
|
NM_000051.4(ATM):c.4909+9T>G
|
rs1555101970
|
|
NM_000051.4(ATM):c.4910-10T>C
|
rs2083173059
|
|
NM_000051.4(ATM):c.4910-14A>C
|
|
|
NM_000051.4(ATM):c.4910-17T>G
|
rs1238547320
|
|
NM_000051.4(ATM):c.4910-7T>A
|
rs3092872
|
|
NM_000051.4(ATM):c.4910-7T>C
|
rs3092872
|
|
NM_000051.4(ATM):c.4910-8A>G
|
rs1555103144
|
|
NM_000051.4(ATM):c.4910-9T>C
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4917G>T (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4929T>A (p.Ile1643=)
|
rs2135861750
|
|
NM_000051.4(ATM):c.4935G>A (p.Val1645=)
|
|
|
NM_000051.4(ATM):c.4939C>T (p.Leu1647=)
|
rs1157451668
|
|
NM_000051.4(ATM):c.4941A>G (p.Leu1647=)
|
rs786201667
|
|
NM_000051.4(ATM):c.4947C>G (p.Val1649=)
|
rs1436324961
|
|
NM_000051.4(ATM):c.4953G>A (p.Leu1651=)
|
rs786201297
|
|
NM_000051.4(ATM):c.4956G>A (p.Leu1652=)
|
rs2135862508
|
|
NM_000051.4(ATM):c.496+11A>C
|
|
|
NM_000051.4(ATM):c.496+11A>G
|
|
|
NM_000051.4(ATM):c.496+14G>C
|
rs776887214
|
|
NM_000051.4(ATM):c.496+14GTT[2]
|
rs1330640039
|
|
NM_000051.4(ATM):c.496+16T>C
|
|
|
NM_000051.4(ATM):c.496+17G>T
|
|
|
NM_000051.4(ATM):c.496+18T>C
|
rs762171014
|
|
NM_000051.4(ATM):c.496+19T>G
|
|
|
NM_000051.4(ATM):c.496+20G>T
|
rs751245102
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
NM_000051.4(ATM):c.496+7T>G
|
rs2135126753
|
|
NM_000051.4(ATM):c.496+8T>C
|
rs2135126803
|
|
NM_000051.4(ATM):c.496+9T>C
|
|
|
NM_000051.4(ATM):c.496+9T>G
|
rs2135126833
|
|
NM_000051.4(ATM):c.4962A>G (p.Leu1654=)
|
rs2135862796
|
|
NM_000051.4(ATM):c.4965C>T (p.Ser1655=)
|
rs1555103252
|
|
NM_000051.4(ATM):c.497-2662AAG[3]
|
|
|
NM_000051.4(ATM):c.497-4T>G
|
rs876659621
|
|
NM_000051.4(ATM):c.497-5T>C
|
rs1591499452
|
|
NM_000051.4(ATM):c.497-7T>A
|
|
|
NM_000051.4(ATM):c.497-7T>C
|
|
|
NM_000051.4(ATM):c.497-7T>G
|
|
|
NM_000051.4(ATM):c.497-9T>G
|
rs2079693632
|
|
NM_000051.4(ATM):c.4983C>T (p.His1661=)
|
rs2083180642
|
|
NM_000051.4(ATM):c.4989T>G (p.Gly1663=)
|
rs1591693006
|
|
NM_000051.4(ATM):c.498A>G (p.Glu166=)
|
rs587779842
|
|
NM_000051.4(ATM):c.499T>C (p.Leu167=)
|
rs2135221733
|
|
NM_000051.4(ATM):c.5005+10A>G
|
rs2083183551
|
|
NM_000051.4(ATM):c.5005+12T>A
|
rs2135864456
|
|
NM_000051.4(ATM):c.5005+14dup
|
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
NM_000051.4(ATM):c.5005+15T>C
|
rs377355762
|
|
NM_000051.4(ATM):c.5005+17C>A
|
rs200688912
|
|
NM_000051.4(ATM):c.5005+17C>T
|
rs200688912
|
|
NM_000051.4(ATM):c.5005+19C>G
|
rs1064794787
|
|
NM_000051.4(ATM):c.5005+19C>T
|
|
|
NM_000051.4(ATM):c.5005+20T>C
|
|
|
NM_000051.4(ATM):c.5005+20T>G
|
|
|
NM_000051.4(ATM):c.5006-10C>T
|
rs2083315555
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
NM_000051.4(ATM):c.5006-14A>C
|
rs2083314877
|
|
NM_000051.4(ATM):c.5006-14A>G
|
|
|
NM_000051.4(ATM):c.5006-17A>G
|
|
|
NM_000051.4(ATM):c.5006-17A>T
|
|
|
NM_000051.4(ATM):c.5006-19A>G
|
|
|
NM_000051.4(ATM):c.5006-4G>T
|
|
|
NM_000051.4(ATM):c.5006-5T>C
|
|
|
NM_000051.4(ATM):c.5006-6A>G
|
rs1392301961
|
|
NM_000051.4(ATM):c.5006-8A>G
|
rs1057520447
|
|
NM_000051.4(ATM):c.5010T>C (p.Ala1670=)
|
rs1555104482
|
|
NM_000051.4(ATM):c.5010T>G (p.Ala1670=)
|
rs1555104482
|
|
NM_000051.4(ATM):c.5019C>T (p.Ser1673=)
|
rs1565473483
|
|
NM_000051.4(ATM):c.501G>A (p.Leu167=)
|
rs1181703620
|
|
NM_000051.4(ATM):c.5023T>C (p.Leu1675=)
|
rs876660275
|
|
NM_000051.4(ATM):c.5034G>A (p.Val1678=)
|
|
|
NM_000051.4(ATM):c.5034G>C (p.Val1678=)
|
rs1555104548
|
|
NM_000051.4(ATM):c.5046T>C (p.Asp1682=)
|
rs2135889217
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
NM_000051.4(ATM):c.5064A>C (p.Ile1688=)
|
rs1565473763
|
|
NM_000051.4(ATM):c.5067A>G (p.Gln1689=)
|
rs1555104621
|
|
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)
|
rs778014234
|
|
NM_000051.4(ATM):c.5085T>G (p.Ser1695=)
|
rs2135890366
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
NM_000051.4(ATM):c.5091C>T (p.Thr1697=)
|
rs1555104680
|
|
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
|
|
|
NM_000051.4(ATM):c.5097C>A (p.Ala1699=)
|
rs2135890740
|
|
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
|
|
|
NM_000051.4(ATM):c.5103G>A (p.Lys1701=)
|
|
|
NM_000051.4(ATM):c.5106A>G (p.Leu1702=)
|
rs2083331055
|
|
NM_000051.4(ATM):c.510G>C (p.Val170=)
|
rs375682557
|
|
NM_000051.4(ATM):c.5115T>C (p.Asp1705=)
|
rs876658685
|
|
NM_000051.4(ATM):c.5118A>G (p.Lys1706=)
|
rs3218672
|
|
NM_000051.4(ATM):c.5121A>G (p.Glu1707=)
|
rs2135891426
|
|
NM_000051.4(ATM):c.5124T>G (p.Leu1708=)
|
rs864622668
|
|
NM_000051.4(ATM):c.5133C>G (p.Thr1711=)
|
rs1357021067
|
|
NM_000051.4(ATM):c.5133C>T (p.Thr1711=)
|
rs1357021067
|
|
NM_000051.4(ATM):c.5139A>C (p.Ile1713=)
|
rs1233346885
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
|
|
|
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)
|
|
|
NM_000051.4(ATM):c.5154G>A (p.Leu1718=)
|
rs1555104785
|
|
NM_000051.4(ATM):c.5163A>G (p.Thr1721=)
|
rs1565474295
|
|
NM_000051.4(ATM):c.5169A>G (p.Val1723=)
|
rs2135893173
|
|
NM_000051.4(ATM):c.516C>T (p.Phe172=)
|
rs1591499730
|
|
NM_000051.4(ATM):c.5175T>C (p.Asp1725=)
|
rs1555104803
|
|
NM_000051.4(ATM):c.5177+10_5177+13del
|
|
|
NM_000051.4(ATM):c.5177+14G>C
|
rs2135893694
|
|
NM_000051.4(ATM):c.5177+15A>C
|
|
|
NM_000051.4(ATM):c.5177+16T>A
|
rs2135893735
|
|
NM_000051.4(ATM):c.5177+17A>C
|
|
|
NM_000051.4(ATM):c.5177+19C>A
|
|
|
NM_000051.4(ATM):c.5177+20T>A
|
|
|
NM_000051.4(ATM):c.5177+20T>G
|
|
|
NM_000051.4(ATM):c.5177+7A>G
|
rs2135893538
|
|
NM_000051.4(ATM):c.5177+9T>C
|
rs767425639
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-11G>T
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-14del
|
|
|
NM_000051.4(ATM):c.5178-15A>C
|
|
|
NM_000051.4(ATM):c.5178-18T>C
|
rs1057522381
|
|
NM_000051.4(ATM):c.5178-7T>C
|
rs1555105564
|
|
NM_000051.4(ATM):c.5178-8T>G
|
rs2135911389
|
|
NM_000051.4(ATM):c.5178-9T>A
|
|
|
NM_000051.4(ATM):c.5178-9T>C
|
|
|
NM_000051.4(ATM):c.5178-9T>G
|
rs1555105562
|
|
NM_000051.4(ATM):c.517A>C (p.Arg173=)
|
rs1591499740
|
|
NM_000051.4(ATM):c.5188C>A (p.Arg1730=)
|
rs764389018
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
NM_000051.4(ATM):c.51T>C (p.His17=)
|
rs1591446045
|
|
NM_000051.4(ATM):c.5205C>A (p.Thr1735=)
|
rs1060504283
|
|
NM_000051.4(ATM):c.5205C>G (p.Thr1735=)
|
rs1060504283
|
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
|
NM_000051.4(ATM):c.5220T>C (p.Ile1740=)
|
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.522C>T (p.Leu174=)
|
rs780173724
|
|
NM_000051.4(ATM):c.5232G>A (p.Lys1744=)
|
rs2083440178
|
|
NM_000051.4(ATM):c.5235T>A (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>C (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>G (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5244T>C (p.Ser1748=)
|
rs2083440966
|
|
NM_000051.4(ATM):c.5247C>T (p.Phe1749=)
|
rs2083441197
|
|
NM_000051.4(ATM):c.5256T>A (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5256T>C (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5262G>A (p.Lys1754=)
|
rs748900588
|
|
NM_000051.4(ATM):c.5268A>G (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.526C>T (p.Leu176=)
|
rs375798802
|
|
NM_000051.4(ATM):c.5277A>T (p.Pro1759=)
|
rs2135914528
|
|
NM_000051.4(ATM):c.5283G>C (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5286C>T (p.Ala1762=)
|
|
|
NM_000051.4(ATM):c.5289T>C (p.Tyr1763=)
|
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
|
NM_000051.4(ATM):c.5304A>G (p.Arg1768=)
|
rs1591709095
|
|
NM_000051.4(ATM):c.5313A>G (p.Arg1771=)
|
rs1591709164
|
|
NM_000051.4(ATM):c.5319+12_5319+55dup
|
|
|
NM_000051.4(ATM):c.5319+14T>C
|
|
|
NM_000051.4(ATM):c.5319+15A>C
|
rs2135916591
|
|
NM_000051.4(ATM):c.5319+15A>G
|
rs2135916591
|
|
NM_000051.4(ATM):c.5319+17A>G
|
rs1331649240
|
|
NM_000051.4(ATM):c.5319+22del
|
rs2135916722
|
|
NM_000051.4(ATM):c.5319+6_5319+7dup
|
rs2083447804
|
|
NM_000051.4(ATM):c.5319+7T>C
|
rs925428128
|
|
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC
|
rs2135916413
|
|
NM_000051.4(ATM):c.5320-10T>G
|
|
|
NM_000051.4(ATM):c.5320-11T>C
|
|
|
NM_000051.4(ATM):c.5320-12C>T
|
|
|
NM_000051.4(ATM):c.5320-13C>A
|
|
|
NM_000051.4(ATM):c.5320-13C>T
|
rs1565478723
|
|
NM_000051.4(ATM):c.5320-14C>T
|
rs182663175
|
|
NM_000051.4(ATM):c.5320-19del
|
|
|
NM_000051.4(ATM):c.5320-20T>C
|
rs2135926264
|
|
NM_000051.4(ATM):c.5320-20T>G
|
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
NM_000051.4(ATM):c.5320-6_5320-3del
|
rs864622386
|
|
NM_000051.4(ATM):c.5320-7T>G
|
rs863224292
|
|
NM_000051.4(ATM):c.5328A>G (p.Glu1776=)
|
|
|
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
|
|
|
NM_000051.4(ATM):c.5349A>G (p.Glu1783=)
|
rs1555106353
|
|
NM_000051.4(ATM):c.534T>C (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.534T>G (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
NM_000051.4(ATM):c.5358T>C (p.Phe1786=)
|
rs876659725
|
|
NM_000051.4(ATM):c.5365C>T (p.Leu1789=)
|
rs2135928017
|
|
NM_000051.4(ATM):c.5376A>T (p.Ile1792=)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5392C>T (p.Leu1798=)
|
rs879254274
|
|
NM_000051.4(ATM):c.5394A>G (p.Leu1798=)
|
rs2135928681
|
|
NM_000051.4(ATM):c.5406T>C (p.His1802=)
|
|
|
NM_000051.4(ATM):c.5409C>T (p.Asp1803=)
|
rs1555106462
|
|
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)
|
rs1057522229
|
|
NM_000051.4(ATM):c.5436T>C (p.Ala1812=)
|
rs1555106502
|
|
NM_000051.4(ATM):c.5436T>G (p.Ala1812=)
|
rs1555106502
|
|
NM_000051.4(ATM):c.5448T>C (p.Ser1816=)
|
rs766455425
|
|
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu)
|
rs2083506323
|
|
NM_000051.4(ATM):c.5457A>G (p.Thr1819=)
|
rs1555106535
|
|
NM_000051.4(ATM):c.546T>G (p.Val182=)
|
rs2135223336
|
|
NM_000051.4(ATM):c.5472T>A (p.Leu1824=)
|
rs2135930756
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
NM_000051.4(ATM):c.5476T>C (p.Leu1826=)
|
rs1555106563
|
|
NM_000051.4(ATM):c.5479T>C (p.Leu1827=)
|
rs2135930931
|
|
NM_000051.4(ATM):c.5481A>G (p.Leu1827=)
|
rs2135930953
|
|
NM_000051.4(ATM):c.5484G>A (p.Lys1828=)
|
|
|
NM_000051.4(ATM):c.5496+13A>G
|
|
|
NM_000051.4(ATM):c.5496+13_5496+16del
|
rs1382076363
|
|
NM_000051.4(ATM):c.5496+14T>G
|
rs1172938746
|
|
NM_000051.4(ATM):c.5496+15T>G
|
|
|
NM_000051.4(ATM):c.5496+18T>G
|
rs2135931607
|
|
NM_000051.4(ATM):c.5496+19C>T
|
|
|
NM_000051.4(ATM):c.5496+645T>C
|
|
|
NM_000051.4(ATM):c.5496+7_5496+9del
|
rs878853523
|
|
NM_000051.4(ATM):c.5497-11G>T
|
rs2135942166
|
|
NM_000051.4(ATM):c.5497-12T>G
|
|
|
NM_000051.4(ATM):c.5497-12del
|
|
|
NM_000051.4(ATM):c.5497-13T>G
|
|
|
NM_000051.4(ATM):c.5497-13_5497-10del
|
|
|
NM_000051.4(ATM):c.5497-15G>A
|
rs3092828
|
|
NM_000051.4(ATM):c.5497-18T>G
|
rs2135942080
|
|
NM_000051.4(ATM):c.5497-19A>G
|
rs1555107231
|
|
NM_000051.4(ATM):c.5497-20G>T
|
|
|
NM_000051.4(ATM):c.5497-4C>G
|
rs1002998981
|
|
NM_000051.4(ATM):c.5497-7A>G
|
rs2135942246
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
NM_000051.4(ATM):c.54T>C (p.Asp18=)
|
rs786203926
|
|
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
|
|
|
NM_000051.4(ATM):c.5508C>T (p.Asp1836=)
|
rs2135942603
|
|
NM_000051.4(ATM):c.5511T>C (p.Phe1837=)
|
|
|
NM_000051.4(ATM):c.5520T>C (p.Thr1840=)
|
rs1591717575
|
|
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)
|
|
|
NM_000051.4(ATM):c.5523A>C (p.Val1841=)
|
rs1060504268
|
|
NM_000051.4(ATM):c.5523A>G (p.Val1841=)
|
rs1060504268
|
|
NM_000051.4(ATM):c.5526T>A (p.Leu1842=)
|
rs2135942991
|
|
NM_000051.4(ATM):c.5529A>G (p.Pro1843=)
|
rs750037588
|
|
NM_000051.4(ATM):c.5529A>T (p.Pro1843=)
|
|
|
NM_000051.4(ATM):c.552A>G (p.Arg184=)
|
rs2135223587
|
|
NM_000051.4(ATM):c.5532C>T (p.Tyr1844=)
|
|
|
NM_000051.4(ATM):c.5541T>C (p.His1847=)
|
rs1555107326
|
|
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)
|
rs200842502
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
NM_000051.4(ATM):c.5559T>C (p.Asp1853=)
|
rs1555107393
|
|
NM_000051.4(ATM):c.5565T>C (p.Asn1855=)
|
rs1565481888
|
|
NM_000051.4(ATM):c.556T>C (p.Leu186=)
|
rs2079700064
|
|
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5571A>T (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5583G>C (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5583G>T (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5586T>G (p.Leu1862=)
|
rs1555107431
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
NM_000051.4(ATM):c.558A>G (p.Leu186=)
|
rs991667156
|
|
NM_000051.4(ATM):c.5592A>G (p.Thr1864=)
|
rs1426095621
|
|
NM_000051.4(ATM):c.5592A>T (p.Thr1864=)
|
rs1426095621
|
|
NM_000051.4(ATM):c.5601G>A (p.Gln1867=)
|
rs1555107464
|
|
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)
|
|
|
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)
|
|
|
NM_000051.4(ATM):c.5610C>T (p.Phe1870=)
|
rs2083601271
|
|
NM_000051.4(ATM):c.5613C>G (p.Thr1871=)
|
rs2083601650
|
|
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
|
|
|
NM_000051.4(ATM):c.5622T>C (p.Leu1874=)
|
rs2135945293
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
NM_000051.4(ATM):c.5628C>T (p.His1876=)
|
rs1237700879
|
|
NM_000051.4(ATM):c.5637A>G (p.Gln1879=)
|
rs587781993
|
|
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)
|
rs757103582
|
|
NM_000051.4(ATM):c.5644C>A (p.Arg1882=)
|
rs786204433
|
|
NM_000051.4(ATM):c.564T>C (p.Ala188=)
|
rs2135224096
|
|
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)
|
rs1591718571
|
|
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
|
|
|
NM_000051.4(ATM):c.5655C>G (p.Thr1885=)
|
rs1555107577
|
|
NM_000051.4(ATM):c.5655C>T (p.Thr1885=)
|
rs1555107577
|
|
NM_000051.4(ATM):c.5658T>A (p.Pro1886=)
|
rs940182945
|
|
NM_000051.4(ATM):c.565A>C (p.Arg189=)
|
rs2079701086
|
|
NM_000051.4(ATM):c.5661A>T (p.Ala1887=)
|
rs876658939
|
|
NM_000051.4(ATM):c.5674+11A>T
|
|
|
NM_000051.4(ATM):c.5674+13A>G
|
rs1555107618
|
|
NM_000051.4(ATM):c.5674+14T>A
|
rs2083608444
|
|
NM_000051.4(ATM):c.5674+14T>C
|
rs2083608444
|
|
NM_000051.4(ATM):c.5674+19A>C
|
rs2135946949
|
|
NM_000051.4(ATM):c.5674+19A>G
|
|
|
NM_000051.4(ATM):c.5674+20A>G
|
|
|
NM_000051.4(ATM):c.5674+7T>A
|
rs1591718715
|
|
NM_000051.4(ATM):c.5674+7T>C
|
|
|
NM_000051.4(ATM):c.5674+8A>C
|
rs1033110152
|
|
NM_000051.4(ATM):c.5674+8A>G
|
rs1033110152
|
|
NM_000051.4(ATM):c.5674+9T>C
|
|
|
NM_000051.4(ATM):c.5675-10T>C
|
|
|
NM_000051.4(ATM):c.5675-11T>C
|
|
|
NM_000051.4(ATM):c.5675-15A>G
|
rs1565485867
|
|
NM_000051.4(ATM):c.5675-16T>A
|
|
|
NM_000051.4(ATM):c.5675-17A>C
|
|
|
NM_000051.4(ATM):c.5675-17A>G
|
|
|
NM_000051.4(ATM):c.5675-19A>G
|
|
|
NM_000051.4(ATM):c.5675-5G>C
|
rs1591731701
|
|
NM_000051.4(ATM):c.567A>G (p.Arg189=)
|
rs1555066398
|
|
NM_000051.4(ATM):c.5682G>A (p.Glu1894=)
|
rs2135975851
|
|
NM_000051.4(ATM):c.5685C>T (p.His1895=)
|
rs889445709
|
|
NM_000051.4(ATM):c.5691C>T (p.Phe1897=)
|
rs1555109057
|
|
NM_000051.4(ATM):c.5697C>T (p.Cys1899=)
|
rs753839301
|
|
NM_000051.4(ATM):c.5701T>C (p.Leu1901=)
|
rs2135976467
|
|
NM_000051.4(ATM):c.5709A>G (p.Lys1903=)
|
rs2135976714
|
|
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)
|
rs864622127
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.5724A>C (p.Thr1908=)
|
|
|
NM_000051.4(ATM):c.5724A>G (p.Thr1908=)
|
rs2135977142
|
|
NM_000051.4(ATM):c.5736T>C (p.Val1912=)
|
rs1060504302
|
|
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
|
|
|
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
|
|
|
NM_000051.4(ATM):c.5757A>G (p.Gln1919=)
|
rs1555109182
|
|
NM_000051.4(ATM):c.5762+10T>C
|
rs1276744102
|
|
NM_000051.4(ATM):c.5762+11G>A
|
|
|
NM_000051.4(ATM):c.5762+11G>C
|
rs2135978459
|
|
NM_000051.4(ATM):c.5762+12A>C
|
rs2135978517
|
|
NM_000051.4(ATM):c.5762+13G>A
|
|
|
NM_000051.4(ATM):c.5762+16T>C
|
|
|
NM_000051.4(ATM):c.5762+18G>A
|
|
|
NM_000051.4(ATM):c.5762+20T>C
|
rs2135978759
|
|
NM_000051.4(ATM):c.5762+21del
|
|
|
NM_000051.4(ATM):c.5762+7_5762+11del
|
|
|
NM_000051.4(ATM):c.5762+9A>G
|
rs1565486371
|
|
NM_000051.4(ATM):c.5763-1048_5763-1036del
|
|
|
NM_000051.4(ATM):c.5763-1056G>C
|
|
|
NM_000051.4(ATM):c.5763-11T>C
|
rs1057520675
|
|
NM_000051.4(ATM):c.5763-12A>G
|
rs1057523388
|
|
NM_000051.4(ATM):c.5763-13C>T
|
rs1057522554
|
|
NM_000051.4(ATM):c.5763-14_5763-13del
|
rs1064794707
|
|
NM_000051.4(ATM):c.5763-15C>G
|
|
|
NM_000051.4(ATM):c.5763-17_5763-16del
|
rs1064793040
|
|
NM_000051.4(ATM):c.5763-20T>G
|
|
|
NM_000051.4(ATM):c.5763-20_5763-18del
|
rs777468149
|
|
NM_000051.4(ATM):c.5763-3T>C
|
|
|
NM_000051.4(ATM):c.5763-5T>C
|
rs1555110219
|
|
NM_000051.4(ATM):c.5763-7T>C
|
rs1555110216
|
|
NM_000051.4(ATM):c.5763-7T>G
|
|
|
NM_000051.4(ATM):c.5763-8T>G
|
rs2136010657
|
|
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)
|
rs1057523784
|
|
NM_000051.4(ATM):c.5766T>C (p.Pro1922=)
|
rs2084022090
|
|
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)
|
rs1060504280
|
|
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
|
|
|
NM_000051.4(ATM):c.5784T>C (p.Phe1928=)
|
rs1290871799
|
|
NM_000051.4(ATM):c.5787T>C (p.Asn1929=)
|
rs1057520448
|
|
NM_000051.4(ATM):c.5790T>C (p.Asp1930=)
|
rs1555110279
|
|
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
|
|
|
NM_000051.4(ATM):c.5815C>T (p.Leu1939=)
|
rs2136014129
|
|
NM_000051.4(ATM):c.5820A>G (p.Glu1940=)
|
rs2084028240
|
|
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
|
|
|
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
|
|
|
NM_000051.4(ATM):c.5844T>C (p.Cys1948=)
|
rs776150043
|
|
NM_000051.4(ATM):c.5856T>C (p.Phe1952=)
|
rs864622297
|
|
NM_000051.4(ATM):c.5859A>G (p.Thr1953=)
|
rs1555110429
|
|
NM_000051.4(ATM):c.585C>G (p.Thr195=)
|
rs2135224869
|
|
NM_000051.4(ATM):c.585C>T (p.Thr195=)
|
|
|
NM_000051.4(ATM):c.5865A>G (p.Leu1955=)
|
rs1555110432
|
|
NM_000051.4(ATM):c.5868C>G (p.Leu1956=)
|
rs540054724
|
|
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=)
|
rs2136017191
|
|
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)
|
rs1591746375
|
|
NM_000051.4(ATM):c.5889T>C (p.Asp1963=)
|
rs1555110490
|
|
NM_000051.4(ATM):c.5895A>G (p.Lys1965=)
|
rs1565490147
|
|
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
|
|
|
NM_000051.4(ATM):c.5916A>G (p.Lys1972=)
|
rs2136019609
|
|
NM_000051.4(ATM):c.5918+12T>C
|
rs2084042843
|
|
NM_000051.4(ATM):c.5918+13A>C
|
|
|
NM_000051.4(ATM):c.5918+14G>T
|
rs2136020496
|
|
NM_000051.4(ATM):c.5918+16A>C
|
|
|
NM_000051.4(ATM):c.5918+16A>G
|
rs3092911
|
|
NM_000051.4(ATM):c.5918+17T>G
|
rs2136020727
|
|
NM_000051.4(ATM):c.5918+18T>G
|
|
|
NM_000051.4(ATM):c.5918+7G>C
|
rs1423323603
|
|
NM_000051.4(ATM):c.5918+7del
|
rs2136020073
|
|
NM_000051.4(ATM):c.5918+8A>C
|
rs1401825950
|
|
NM_000051.4(ATM):c.5918+8A>G
|
|
|
NM_000051.4(ATM):c.5918+8A>T
|
|
|
NM_000051.4(ATM):c.5919-11G>A
|
rs1555111746
|
|
NM_000051.4(ATM):c.5919-11G>C
|
|
|
NM_000051.4(ATM):c.5919-13T>C
|
rs1555111740
|
|
NM_000051.4(ATM):c.5919-18_5919-15dup
|
rs2136057696
|
|
NM_000051.4(ATM):c.5919-20G>A
|
|
|
NM_000051.4(ATM):c.5919-49C>T
|
rs2084236076
|
|
NM_000051.4(ATM):c.5919-7_5919-6insCTGT
|
rs1239985928
|
|
NM_000051.4(ATM):c.591A>G (p.Gly197=)
|
rs587780630
|
|
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
|
|
|
NM_000051.4(ATM):c.5943C>T (p.Ser1981=)
|
rs769252226
|
|
NM_000051.4(ATM):c.5946G>A (p.Gln1982=)
|
rs1591758349
|
|
NM_000051.4(ATM):c.594C>T (p.Cys198=)
|
rs1591500282
|
|
NM_000051.4(ATM):c.5952A>G (p.Thr1984=)
|
|
|
NM_000051.4(ATM):c.5955T>C (p.Thr1985=)
|
rs1555111801
|
|
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)
|
rs876660935
|
|
NM_000051.4(ATM):c.5958T>A (p.Ile1986=)
|
rs2136060867
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.5967G>A (p.Leu1989=)
|
rs1555111833
|
|
NM_000051.4(ATM):c.5979T>C (p.Ser1993=)
|
rs1591758734
|
|
NM_000051.4(ATM):c.597T>C (p.Cys199=)
|
rs1565369633
|
|
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
|
|
|
NM_000051.4(ATM):c.5985A>G (p.Glu1995=)
|
rs2084252730
|
|
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
|
|
|
NM_000051.4(ATM):c.6003A>G (p.Leu2001=)
|
rs1057523413
|
|
NM_000051.4(ATM):c.6006+10A>G
|
rs2136063971
|
|
NM_000051.4(ATM):c.6006+11G>C
|
rs1466545116
|
|
NM_000051.4(ATM):c.6006+17C>T
|
|
|
NM_000051.4(ATM):c.6006+19A>G
|
|
|
NM_000051.4(ATM):c.6006+20T>G
|
|
|
NM_000051.4(ATM):c.6006+7A>G
|
rs1060504289
|
|
NM_000051.4(ATM):c.6007-10A>T
|
rs373395916
|
|
NM_000051.4(ATM):c.6007-11C>T
|
rs764191468
|
|
NM_000051.4(ATM):c.6007-13T>G
|
|
|
NM_000051.4(ATM):c.6007-17T>C
|
rs2136116248
|
|
NM_000051.4(ATM):c.6007-19G>T
|
|
|
NM_000051.4(ATM):c.6007-4T>G
|
rs1591776406
|
|
NM_000051.4(ATM):c.6007-5T>C
|
rs863224294
|
|
NM_000051.4(ATM):c.6007-7T>C
|
|
|
NM_000051.4(ATM):c.6007-8G>C
|
rs1057524058
|
|
NM_000051.4(ATM):c.6007-9T>C
|
rs1591776333
|
|
NM_000051.4(ATM):c.6009T>C (p.Asp2003=)
|
rs878853526
|
|
NM_000051.4(ATM):c.600T>G (p.Ser200=)
|
rs2135225298
|
|
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)
|
|
|
NM_000051.4(ATM):c.6016T>C (p.Leu2006=)
|
rs1555113531
|
|
NM_000051.4(ATM):c.6018A>G (p.Leu2006=)
|
rs876659301
|
|
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
|
|
|
NM_000051.4(ATM):c.6048T>C (p.Asp2016=)
|
rs2136119590
|
|
NM_000051.4(ATM):c.6052T>C (p.Leu2018=)
|
rs2136119802
|
|
NM_000051.4(ATM):c.6060C>G (p.Gly2020=)
|
rs2136120253
|
|
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)
|
|
|
NM_000051.4(ATM):c.6066T>A (p.Gly2022=)
|
|
|
NM_000051.4(ATM):c.6072G>A (p.Gly2024=)
|
rs1591777129
|
|
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)
|
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
|
|
|
NM_000051.4(ATM):c.6095+10A>G
|
|
|
NM_000051.4(ATM):c.6095+11T>G
|
rs2136122672
|
|
NM_000051.4(ATM):c.6095+13T>C
|
rs2136122778
|
|
NM_000051.4(ATM):c.6095+17T>C
|
rs2136122949
|
|
NM_000051.4(ATM):c.6095+18A>T
|
|
|
NM_000051.4(ATM):c.6095+20A>C
|
rs2136123062
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
NM_000051.4(ATM):c.6095+6T>A
|
rs1057522992
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
NM_000051.4(ATM):c.6095+7T>A
|
|
|
NM_000051.4(ATM):c.6095+7T>C
|
|
|
NM_000051.4(ATM):c.6095+7T>G
|
rs2136122461
|
|
NM_000051.4(ATM):c.6095+9C>A
|
|
|
NM_000051.4(ATM):c.6095+9del
|
rs2136122631
|
|
NM_000051.4(ATM):c.6096-10T>C
|
rs2136126453
|
|
NM_000051.4(ATM):c.6096-12C>T
|
|
|
NM_000051.4(ATM):c.6096-15A>C
|
|
|
NM_000051.4(ATM):c.6096-15A>T
|
|
|
NM_000051.4(ATM):c.6096-16C>A
|
|
|
NM_000051.4(ATM):c.6096-18C>G
|
|
|
NM_000051.4(ATM):c.6096-18C>T
|
|
|
NM_000051.4(ATM):c.6096-20T>C
|
rs746766702
|
|
NM_000051.4(ATM):c.6096-20T>G
|
rs746766702
|
|
NM_000051.4(ATM):c.6096-5T>C
|
|
|
NM_000051.4(ATM):c.6096-7C>G
|
rs1173338615
|
|
NM_000051.4(ATM):c.6096-7C>T
|
|
|
NM_000051.4(ATM):c.6096A>G (p.Arg2032=)
|
rs1591778359
|
|
NM_000051.4(ATM):c.60T>C (p.Ala20=)
|
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
NM_000051.4(ATM):c.6105A>T (p.Thr2035=)
|
rs1555113708
|
|
NM_000051.4(ATM):c.6117A>G (p.Glu2039=)
|
rs2136127840
|
|
NM_000051.4(ATM):c.6120A>G (p.Ala2040=)
|
rs1565499622
|
|
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
|
|
|
NM_000051.4(ATM):c.612A>G (p.Gly204=)
|
rs878853527
|
|
NM_000051.4(ATM):c.6135C>T (p.Ala2045=)
|
rs1555113771
|
|
NM_000051.4(ATM):c.6138A>G (p.Leu2046=)
|
rs1591778887
|
|
NM_000051.4(ATM):c.6141A>G (p.Val2047=)
|
rs978540099
|
|
NM_000051.4(ATM):c.6144A>G (p.Thr2048=)
|
rs1201081443
|
|
NM_000051.4(ATM):c.6150C>T (p.Asp2050=)
|
rs1057520805
|
|
NM_000051.4(ATM):c.6153C>G (p.Leu2051=)
|
rs876658452
|
|
NM_000051.4(ATM):c.615A>G (p.Leu205=)
|
rs1555066455
|
|
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)
|
|
|
NM_000051.4(ATM):c.6165C>A (p.Ile2055=)
|
rs779848229
|
|
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)
|
|
|
NM_000051.4(ATM):c.6168C>T (p.Pro2056=)
|
rs1057520449
|
|
NM_000051.4(ATM):c.6171A>G (p.Ser2057=)
|
|
|
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)
|
rs376521407
|
|
NM_000051.4(ATM):c.6180C>A (p.Arg2060=)
|
rs2136131720
|
|
NM_000051.4(ATM):c.6180C>T (p.Arg2060=)
|
rs2136131720
|
|
NM_000051.4(ATM):c.6195T>C (p.Ile2065=)
|
rs756309395
|
|
NM_000051.4(ATM):c.6198+12C>A
|
|
|
NM_000051.4(ATM):c.6198+12C>T
|
|
|
NM_000051.4(ATM):c.6198+17A>C
|
|
|
NM_000051.4(ATM):c.6198+17A>G
|
|
|
NM_000051.4(ATM):c.6198+18T>C
|
|
|
NM_000051.4(ATM):c.6198+20T>C
|
|
|
NM_000051.4(ATM):c.6198+8T>G
|
rs2136133343
|
|
NM_000051.4(ATM):c.6198+9_6198+12del
|
rs1451367847
|
|
NM_000051.4(ATM):c.6199-10T>G
|
rs2084770572
|
|
NM_000051.4(ATM):c.6199-4T>G
|
rs2136162102
|
|
NM_000051.4(ATM):c.6199-5T>A
|
rs1555114533
|
|
NM_000051.4(ATM):c.6199-6G>C
|
rs1555114529
|
|
NM_000051.4(ATM):c.6199-6G>T
|
rs1555114529
|
|
NM_000051.4(ATM):c.6199-8C>T
|
rs1254806505
|
|
NM_000051.4(ATM):c.6199-9C>A
|
rs1060501611
|
|
NM_000051.4(ATM):c.6199-9C>G
|
|
|
NM_000051.4(ATM):c.6201C>T (p.Ala2067=)
|
rs2136162415
|
|
NM_000051.4(ATM):c.6202T>C (p.Leu2068=)
|
rs2136162514
|
|
NM_000051.4(ATM):c.6211T>C (p.Leu2071=)
|
rs928129862
|
|
NM_000051.4(ATM):c.6216A>T (p.Gly2072=)
|
rs2136163345
|
|
NM_000051.4(ATM):c.621C>T (p.Ser207=)
|
|
|
NM_000051.4(ATM):c.6225T>C (p.His2075=)
|
|
|
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=)
|
rs1383950977
|
|
NM_000051.4(ATM):c.6252G>A (p.Leu2084=)
|
rs876658700
|
|
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=)
|
rs1565502999
|
|
NM_000051.4(ATM):c.6264T>C (p.Asn2088=)
|
rs747372417
|
|
NM_000051.4(ATM):c.6276T>C (p.Cys2092=)
|
rs2136166722
|
|
NM_000051.4(ATM):c.6279T>C (p.Pro2093=)
|
rs141370828
|
|
NM_000051.4(ATM):c.627T>C (p.Phe209=)
|
|
|
NM_000051.4(ATM):c.6282A>G (p.Glu2094=)
|
|
|
NM_000051.4(ATM):c.6283C>T (p.Leu2095=)
|
rs2084785926
|
|
NM_000051.4(ATM):c.6285A>G (p.Leu2095=)
|
rs1555114732
|
|
NM_000051.4(ATM):c.628T>C (p.Leu210=)
|
rs1555066477
|
|
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
|
|
|
NM_000051.4(ATM):c.6306A>C (p.Ala2102=)
|
rs2136168477
|
|
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
|
|
|
NM_000051.4(ATM):c.6309A>G (p.Ala2103=)
|
rs2084789463
|
|
NM_000051.4(ATM):c.630G>A (p.Leu210=)
|
rs1565369739
|
|
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
|
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
NM_000051.4(ATM):c.6339T>C (p.Thr2113=)
|
|
|
NM_000051.4(ATM):c.633C>T (p.Asp211=)
|
rs1060501634
|
|
NM_000051.4(ATM):c.6347+10T>A
|
rs2136171374
|
|
NM_000051.4(ATM):c.6347+9T>G
|
|
|
NM_000051.4(ATM):c.6348-12C>T
|
rs1057521664
|
|
NM_000051.4(ATM):c.6348-14_6348-10del
|
|
|
NM_000051.4(ATM):c.6348-17T>G
|
rs2136217719
|
|
NM_000051.4(ATM):c.6348-18C>A
|
|
|
NM_000051.4(ATM):c.6348-18C>G
|
rs1175043012
|
|
NM_000051.4(ATM):c.6348-18C>T
|
|
|
NM_000051.4(ATM):c.6348-19T>A
|
|
|
NM_000051.4(ATM):c.6348-19T>C
|
|
|
NM_000051.4(ATM):c.6348-4A>G
|
rs1591099510
|
|
NM_000051.4(ATM):c.6348-5C>T
|
rs1388651064
|
|
NM_000051.4(ATM):c.6348-7C>G
|
rs2085074288
|
|
NM_000051.4(ATM):c.6348-7C>T
|
|
|
NM_000051.4(ATM):c.6348-8T>A
|
|
|
NM_000051.4(ATM):c.6348-9A>G
|
rs1591099349
|
|
NM_000051.4(ATM):c.6354A>G (p.Glu2118=)
|
rs2136218685
|
|
NM_000051.4(ATM):c.6357A>G (p.Val2119=)
|
rs1060504295
|
|
NM_000051.4(ATM):c.6357A>T (p.Val2119=)
|
rs1060504295
|
|
NM_000051.4(ATM):c.636T>C (p.Phe212=)
|
rs1555066499
|
|
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=)
|
rs904589402
|
|
NM_000051.4(ATM):c.6375T>C (p.His2125=)
|
rs1591099942
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
NM_000051.4(ATM):c.6384G>A (p.Leu2128=)
|
rs1060501629
|
|
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=)
|
rs2085081161
|
|
NM_000051.4(ATM):c.6390T>C (p.Asn2130=)
|
rs1555116433
|
|
NM_000051.4(ATM):c.6393T>C (p.Ala2131=)
|
rs1591100144
|
|
NM_000051.4(ATM):c.6399A>G (p.Gln2133=)
|
rs750614487
|
|
NM_000051.4(ATM):c.639T>C (p.Phe213=)
|
rs2135226818
|
|
NM_000051.4(ATM):c.63A>G (p.Thr21=)
|
rs199853729
|
|
NM_000051.4(ATM):c.6403C>T (p.Leu2135=)
|
|
|
NM_000051.4(ATM):c.6405A>G (p.Leu2135=)
|
rs2085084061
|
|
NM_000051.4(ATM):c.6405A>T (p.Leu2135=)
|
|
|
NM_000051.4(ATM):c.6412A>C (p.Arg2138=)
|
rs752069869
|
|
NM_000051.4(ATM):c.6414A>G (p.Arg2138=)
|
rs1591100396
|
|
NM_000051.4(ATM):c.6417A>G (p.Glu2139=)
|
rs2136221364
|
|
NM_000051.4(ATM):c.6426A>G (p.Thr2142=)
|
rs1591100486
|
|
NM_000051.4(ATM):c.6429T>C (p.Phe2143=)
|
rs2136221811
|
|
NM_000051.4(ATM):c.642C>T (p.Ser214=)
|
rs1555066521
|
|
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)
|
|
|
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)
|
|
|
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
|
|
|
NM_000051.4(ATM):c.6450C>T (p.Ala2150=)
|
rs2136222693
|
|
NM_000051.4(ATM):c.6452+11A>C
|
|
|
NM_000051.4(ATM):c.6452+11_6452+12del
|
rs1187485566
|
|
NM_000051.4(ATM):c.6452+16A>T
|
|
|
NM_000051.4(ATM):c.6452+17A>C
|
rs371044809
|
|
NM_000051.4(ATM):c.6452+17A>T
|
rs371044809
|
|
NM_000051.4(ATM):c.6452+17_6452+18del
|
|
|
NM_000051.4(ATM):c.6452+19dup
|
|
|
NM_000051.4(ATM):c.6452+21del
|
rs2136223606
|
|
NM_000051.4(ATM):c.6452+7T>C
|
rs1555116551
|
|
NM_000051.4(ATM):c.6452+8G>A
|
rs2136223026
|
|
NM_000051.4(ATM):c.6452+9A>G
|
rs771531015
|
|
NM_000051.4(ATM):c.6453-13T>C
|
rs1555117056
|
|
NM_000051.4(ATM):c.6453-13T>G
|
|
|
NM_000051.4(ATM):c.6453-14T>A
|
rs1380071831
|
|
NM_000051.4(ATM):c.6453-14T>C
|
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
NM_000051.4(ATM):c.6459A>G (p.Lys2153=)
|
|
|
NM_000051.4(ATM):c.6462A>G (p.Glu2154=)
|
rs756453090
|
|
NM_000051.4(ATM):c.6480G>A (p.Lys2160=)
|
rs2136239159
|
|
NM_000051.4(ATM):c.648T>A (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>C (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>G (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.6498G>A (p.Val2166=)
|
rs746514937
|
|
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=)
|
rs1204851027
|
|
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
|
|
|
NM_000051.4(ATM):c.6510T>C (p.Tyr2170=)
|
|
|
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)
|
rs576254168
|
|
NM_000051.4(ATM):c.6519T>G (p.Leu2173=)
|
rs2136240892
|
|
NM_000051.4(ATM):c.6523A>C (p.Arg2175=)
|
rs2085199556
|
|
NM_000051.4(ATM):c.6525G>A (p.Arg2175=)
|
rs1555117190
|
|
NM_000051.4(ATM):c.6528G>A (p.Leu2176=)
|
rs2136241451
|
|
NM_000051.4(ATM):c.6531G>A (p.Gln2177=)
|
rs2136241619
|
|
NM_000051.4(ATM):c.6534C>T (p.Ala2178=)
|
rs1555117210
|
|
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)
|
|
|
NM_000051.4(ATM):c.6546G>A (p.Leu2182=)
|
rs756551824
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
NM_000051.4(ATM):c.6555T>C (p.Ile2185=)
|
rs1591107794
|
|
NM_000051.4(ATM):c.6572+10T>G
|
rs2136243985
|
|
NM_000051.4(ATM):c.6572+12G>A
|
rs3218677
|
|
NM_000051.4(ATM):c.6572+12G>C
|
|
|
NM_000051.4(ATM):c.6572+12del
|
rs1555117290
|
|
NM_000051.4(ATM):c.6572+15T>C
|
|
|
NM_000051.4(ATM):c.6572+17A>C
|
rs1555117296
|
|
NM_000051.4(ATM):c.6572+17A>G
|
|
|
NM_000051.4(ATM):c.6572+18C>G
|
|
|
NM_000051.4(ATM):c.6572+18C>T
|
rs2085210231
|
|
NM_000051.4(ATM):c.6572+20_6572+21del
|
rs1064793041
|
|
NM_000051.4(ATM):c.6572+7A>C
|
rs2136243916
|
|
NM_000051.4(ATM):c.6572+7A>G
|
|
|
NM_000051.4(ATM):c.6572+9T>A
|
rs2136243962
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
NM_000051.4(ATM):c.6573-12C>G
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-12C>T
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-13T>A
|
|
|
NM_000051.4(ATM):c.6573-16_6573-15del
|
rs1064794351
|
|
NM_000051.4(ATM):c.6573-5T>C
|
|
|
NM_000051.4(ATM):c.6573-8G>A
|
rs1555118989
|
|
NM_000051.4(ATM):c.6573-8G>T
|
rs1555118989
|
|
NM_000051.4(ATM):c.6576A>G (p.Ser2192=)
|
rs2136306809
|
|
NM_000051.4(ATM):c.6582A>G (p.Thr2194=)
|
|
|
NM_000051.4(ATM):c.6585T>C (p.His2195=)
|
rs786203401
|
|
NM_000051.4(ATM):c.6586A>C (p.Arg2196=)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6588A>G (p.Arg2196=)
|
rs2136307484
|
|
NM_000051.4(ATM):c.6591A>G (p.Gln2197=)
|
rs863224296
|
|
NM_000051.4(ATM):c.6603A>G (p.Val2201=)
|
rs863224297
|
|
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=)
|
rs1367617850
|
|
NM_000051.4(ATM):c.660G>C (p.Ala220=)
|
|
|
NM_000051.4(ATM):c.660G>T (p.Ala220=)
|
rs763669136
|
|
NM_000051.4(ATM):c.6612G>A (p.Lys2204=)
|
rs876660650
|
|
NM_000051.4(ATM):c.662+13_662+14del
|
rs1064795370
|
|
NM_000051.4(ATM):c.662+7T>C
|
rs2135227769
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
NM_000051.4(ATM):c.662+8_662+9dup
|
rs1591500816
|
|
NM_000051.4(ATM):c.6627C>G (p.Ser2209=)
|
rs2085556098
|
|
NM_000051.4(ATM):c.663-10T>C
|
rs2135236361
|
|
NM_000051.4(ATM):c.663-12G>C
|
rs2135236291
|
|
NM_000051.4(ATM):c.663-15T>C
|
|
|
NM_000051.4(ATM):c.663-16G>A
|
rs2079751648
|
|
NM_000051.4(ATM):c.663-16G>C
|
|
|
NM_000051.4(ATM):c.663-18T>C
|
rs2135236192
|
|
NM_000051.4(ATM):c.663-20G>A
|
|
|
NM_000051.4(ATM):c.663-20G>C
|
rs1555066898
|
|
NM_000051.4(ATM):c.663-5C>A
|
rs1591503207
|
|
NM_000051.4(ATM):c.663-6T>A
|
rs1555066907
|
|
NM_000051.4(ATM):c.663-7T>C
|
rs2135236482
|
|
NM_000051.4(ATM):c.663-8C>G
|
|
|
NM_000051.4(ATM):c.6636C>A (p.Leu2212=)
|
rs876659563
|
|
NM_000051.4(ATM):c.6636C>G (p.Leu2212=)
|
|
|
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)
|
|
|
NM_000051.4(ATM):c.6666T>C (p.Pro2222=)
|
rs1591128954
|
|
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
|
|
|
NM_000051.4(ATM):c.666A>G (p.Gln222=)
|
|
|
NM_000051.4(ATM):c.6676C>T (p.Leu2226=)
|
rs745709682
|
|
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)
|
rs775850434
|
|
NM_000051.4(ATM):c.6693G>A (p.Leu2231=)
|
rs2136313009
|
|
NM_000051.4(ATM):c.6699C>T (p.Ile2233=)
|
rs1555119149
|
|
NM_000051.4(ATM):c.66A>G (p.Glu22=)
|
rs1185359350
|
|
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)
|
|
|
NM_000051.4(ATM):c.6720C>T (p.Asp2240=)
|
|
|
NM_000051.4(ATM):c.6723C>T (p.Asn2241=)
|
rs750763671
|
|
NM_000051.4(ATM):c.6726A>G (p.Ser2242=)
|
rs878853534
|
|
NM_000051.4(ATM):c.6729A>G (p.Gln2243=)
|
rs763431129
|
|
NM_000051.4(ATM):c.6735A>G (p.Glu2245=)
|
rs2136315259
|
|
NM_000051.4(ATM):c.6738T>C (p.Cys2246=)
|
rs2136315409
|
|
NM_000051.4(ATM):c.6753C>T (p.Leu2251=)
|
rs1057521515
|
|
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
|
|
|
NM_000051.4(ATM):c.675C>T (p.Ser225=)
|
rs1555066940
|
|
NM_000051.4(ATM):c.6762C>T (p.His2254=)
|
rs563933875
|
|
NM_000051.4(ATM):c.6765T>C (p.Leu2255=)
|
rs587780637
|
|
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)
|
|
|
NM_000051.4(ATM):c.6777T>C (p.Ser2259=)
|
rs1057522874
|
|
NM_000051.4(ATM):c.678T>C (p.Ser226=)
|
rs2135237178
|
|
NM_000051.4(ATM):c.678T>G (p.Ser226=)
|
rs2135237178
|
|
NM_000051.4(ATM):c.6792T>A (p.Thr2264=)
|
rs1555119347
|
|
NM_000051.4(ATM):c.6792T>C (p.Thr2264=)
|
rs1555119347
|
|
NM_000051.4(ATM):c.67C>A (p.Arg23=)
|
rs746235533
|
|
NM_000051.4(ATM):c.6801C>T (p.Asn2267=)
|
rs1591130210
|
|
NM_000051.4(ATM):c.6807+11T>C
|
|
|
NM_000051.4(ATM):c.6807+20_6807+21del
|
rs1555119392
|
|
NM_000051.4(ATM):c.6807+8C>A
|
rs1565519254
|
|
NM_000051.4(ATM):c.6807+8C>T
|
rs1565519254
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
NM_000051.4(ATM):c.6808-10T>C
|
rs2136330431
|
|
NM_000051.4(ATM):c.6808-14C>G
|
|
|
NM_000051.4(ATM):c.6808-14C>T
|
rs932081789
|
|
NM_000051.4(ATM):c.6808-17T>A
|
|
|
NM_000051.4(ATM):c.6808-18A>G
|
|
|
NM_000051.4(ATM):c.6808-18A>T
|
rs1166582977
|
|
NM_000051.4(ATM):c.6808-18_6808-10del
|
|
|
NM_000051.4(ATM):c.6808-18_6808-17del
|
rs2136330085
|
|
NM_000051.4(ATM):c.6808-6_6808-2del
|
rs2085643760
|
|
NM_000051.4(ATM):c.6808-7A>G
|
rs2085644108
|
|
NM_000051.4(ATM):c.6808-8C>G
|
|
|
NM_000051.4(ATM):c.6808-9T>C
|
|
|
NM_000051.4(ATM):c.6810C>T (p.Leu2270=)
|
rs1060504305
|
|
NM_000051.4(ATM):c.6813T>C (p.Pro2271=)
|
rs1555119714
|
|
NM_000051.4(ATM):c.6816A>G (p.Glu2272=)
|
rs1555119726
|
|
NM_000051.4(ATM):c.6822A>G (p.Ala2274=)
|
|
|
NM_000051.4(ATM):c.6831A>G (p.Gln2277=)
|
rs1339794219
|
|
NM_000051.4(ATM):c.6840G>A (p.Gln2280=)
|
rs2136332740
|
|
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
|
|
|
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
|
|
|
NM_000051.4(ATM):c.684T>C (p.Gly228=)
|
rs1591503368
|
|
NM_000051.4(ATM):c.684T>G (p.Gly228=)
|
|
|
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
|
|
|
NM_000051.4(ATM):c.6861A>C (p.Gly2287=)
|
rs2136333918
|
|
NM_000051.4(ATM):c.6864C>G (p.Val2288=)
|
rs2136334108
|
|
NM_000051.4(ATM):c.6864C>T (p.Val2288=)
|
rs2136334108
|
|
NM_000051.4(ATM):c.6870G>A (p.Glu2290=)
|
rs1555119845
|
|
NM_000051.4(ATM):c.6876G>A (p.Gln2292=)
|
|
|
NM_000051.4(ATM):c.687A>C (p.Leu229=)
|
rs3218706
|
|
NM_000051.4(ATM):c.687A>G (p.Leu229=)
|
rs3218706
|
|
NM_000051.4(ATM):c.6882A>G (p.Glu2294=)
|
rs1555119866
|
|
NM_000051.4(ATM):c.6885A>G (p.Glu2295=)
|
rs748221367
|
|
NM_000051.4(ATM):c.6888A>C (p.Ala2296=)
|
|
|
NM_000051.4(ATM):c.6888A>G (p.Ala2296=)
|
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
NM_000051.4(ATM):c.6894A>G (p.Val2298=)
|
rs2136335688
|
|
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)
|
|
|
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)
|
|
|
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
|
|
|
NM_000051.4(ATM):c.6918T>C (p.Ser2306=)
|
rs1555119959
|
|
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)
|
|
|
NM_000051.4(ATM):c.6921T>G (p.Leu2307=)
|
rs1555119966
|
|
NM_000051.4(ATM):c.6924C>T (p.Ala2308=)
|
rs759878732
|
|
NM_000051.4(ATM):c.6927G>A (p.Leu2309=)
|
rs876660429
|
|
NM_000051.4(ATM):c.6927G>C (p.Leu2309=)
|
|
|
NM_000051.4(ATM):c.6930T>C (p.Ser2310=)
|
rs876660710
|
|
NM_000051.4(ATM):c.693T>C (p.His231=)
|
rs1555066993
|
|
NM_000051.4(ATM):c.6951G>A (p.Lys2317=)
|
rs1591134349
|
|
NM_000051.4(ATM):c.6954G>A (p.Lys2318=)
|
rs1555120044
|
|
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)
|
|
|
NM_000051.4(ATM):c.6963C>T (p.Ala2321=)
|
rs1555120057
|
|
NM_000051.4(ATM):c.696C>T (p.Ile232=)
|
rs1591503507
|
|
NM_000051.4(ATM):c.6975+14del
|
rs2136341824
|
|
NM_000051.4(ATM):c.6975+14dup
|
rs1555120120
|
|
NM_000051.4(ATM):c.6975+18G>C
|
rs2136342020
|
|
NM_000051.4(ATM):c.6975+18G>T
|
|
|
NM_000051.4(ATM):c.6975+20T>A
|
|
|
NM_000051.4(ATM):c.6975+20T>C
|
rs781322757
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
NM_000051.4(ATM):c.6975+7T>C
|
|
|
NM_000051.4(ATM):c.6975+7T>G
|
rs754834282
|
|
NM_000051.4(ATM):c.6975+8T>C
|
rs2136341429
|
|
NM_000051.4(ATM):c.6975+9T>G
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6976-10T>C
|
|
|
NM_000051.4(ATM):c.6976-11T>A
|
rs1565523441
|
|
NM_000051.4(ATM):c.6976-11T>C
|
rs1565523441
|
|
NM_000051.4(ATM):c.6976-16T>C
|
|
|
NM_000051.4(ATM):c.6976-19T>C
|
rs1026199027
|
|
NM_000051.4(ATM):c.6976-4A>G
|
rs2136372366
|
|
NM_000051.4(ATM):c.6976-4A>T
|
|
|
NM_000051.4(ATM):c.6976-5T>C
|
rs1555120913
|
|
NM_000051.4(ATM):c.6976-6A>G
|
rs2136372183
|
|
NM_000051.4(ATM):c.6976-6A>T
|
rs2136372183
|
|
NM_000051.4(ATM):c.6976-8T>A
|
rs2136372089
|
|
NM_000051.4(ATM):c.6976-9C>A
|
|
|
NM_000051.4(ATM):c.6990A>G (p.Leu2330=)
|
rs2136373497
|
|
NM_000051.4(ATM):c.6996T>C (p.Leu2332=)
|
|
|
NM_000051.4(ATM):c.6996T>G (p.Leu2332=)
|
rs2136373865
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.6999A>G (p.Thr2333=)
|
rs759267807
|
|
NM_000051.4(ATM):c.699A>G (p.Leu233=)
|
rs1555067006
|
|
NM_000051.4(ATM):c.7005A>G (p.Thr2335=)
|
rs1555120978
|
|
NM_000051.4(ATM):c.7008A>G (p.Glu2336=)
|
rs2136374637
|
|
NM_000051.4(ATM):c.7011T>C (p.Cys2337=)
|
rs878853536
|
|
NM_000051.4(ATM):c.7012C>T (p.Leu2338=)
|
rs1555120990
|
|
NM_000051.4(ATM):c.7015A>C (p.Arg2339=)
|
rs752531255
|
|
NM_000051.4(ATM):c.7023T>C (p.Cys2341=)
|
rs878853537
|
|
NM_000051.4(ATM):c.7029C>T (p.Asn2343=)
|
rs1251099495
|
|
NM_000051.4(ATM):c.7038A>G (p.Ala2346=)
|
rs146167034
|
|
NM_000051.4(ATM):c.7044G>T (p.Thr2348=)
|
rs140104789
|
|
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)
|
|
|
NM_000051.4(ATM):c.7048T>C (p.Leu2350=)
|
rs2136377415
|
|
NM_000051.4(ATM):c.7050A>G (p.Leu2350=)
|
rs1555121076
|
|
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
|
|
|
NM_000051.4(ATM):c.705T>C (p.Ala235=)
|
rs756175724
|
|
NM_000051.4(ATM):c.705T>G (p.Ala235=)
|
rs756175724
|
|
NM_000051.4(ATM):c.7062G>C (p.Ala2354=)
|
rs143489373
|
|
NM_000051.4(ATM):c.7065C>T (p.Val2355=)
|
rs2136378354
|
|
NM_000051.4(ATM):c.7077C>T (p.Thr2359=)
|
rs1555121132
|
|
NM_000051.4(ATM):c.7081C>T (p.Leu2361=)
|
rs1412288141
|
|
NM_000051.4(ATM):c.7089+12G>T
|
|
|
NM_000051.4(ATM):c.7089+15G>A
|
|
|
NM_000051.4(ATM):c.7089+16C>A
|
|
|
NM_000051.4(ATM):c.7089+19C>A
|
|
|
NM_000051.4(ATM):c.7089+7T>G
|
|
|
NM_000051.4(ATM):c.7090-12G>A
|
|
|
NM_000051.4(ATM):c.7090-12G>C
|
|
|
NM_000051.4(ATM):c.7090-14G>A
|
rs1486032156
|
|
NM_000051.4(ATM):c.7090-14G>T
|
rs1486032156
|
|
NM_000051.4(ATM):c.7090-16T>C
|
|
|
NM_000051.4(ATM):c.7090-17G>A
|
|
|
NM_000051.4(ATM):c.7090-17G>C
|
rs1555121895
|
|
NM_000051.4(ATM):c.7090-17G>T
|
rs1555121895
|
|
NM_000051.4(ATM):c.7090-18G>T
|
|
|
NM_000051.4(ATM):c.7090-19T>G
|
rs2136408437
|
|
NM_000051.4(ATM):c.7090-6T>C
|
rs2085972331
|
|
NM_000051.4(ATM):c.7090-9T>C
|
rs2136409178
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
NM_000051.4(ATM):c.7107A>G (p.Gly2369=)
|
rs1057523056
|
|
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=)
|
rs760534895
|
|
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
|
|
|
NM_000051.4(ATM):c.711T>C (p.Thr237=)
|
rs1294159555
|
|
NM_000051.4(ATM):c.7125T>C (p.Ser2375=)
|
rs878853539
|
|
NM_000051.4(ATM):c.7128T>C (p.Ser2376=)
|
rs2136412428
|
|
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
|
|
|
NM_000051.4(ATM):c.7140A>G (p.Arg2380=)
|
rs750569023
|
|
NM_000051.4(ATM):c.7155G>A (p.Lys2385=)
|
rs878853540
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7164C>T (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
|
|
|
NM_000051.4(ATM):c.7179T>C (p.Phe2393=)
|
rs1057520430
|
|
NM_000051.4(ATM):c.7182A>C (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7182A>G (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7182A>T (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
|
|
|
NM_000051.4(ATM):c.7198A>C (p.Arg2400=)
|
rs777423778
|
|
NM_000051.4(ATM):c.72+12C>T
|
|
|
NM_000051.4(ATM):c.72+12_72+15del
|
rs2135007520
|
|
NM_000051.4(ATM):c.72+15A>C
|
|
|
NM_000051.4(ATM):c.72+17A>G
|
rs2135007789
|
|
NM_000051.4(ATM):c.72+19T>A
|
rs776457787
|
|
NM_000051.4(ATM):c.72+19T>C
|
|
|
NM_000051.4(ATM):c.72+20C>A
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+20C>G
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+20C>T
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+7A>G
|
|
|
NM_000051.4(ATM):c.72+7A>T
|
|
|
NM_000051.4(ATM):c.72+8A>G
|
rs2135007393
|
|
NM_000051.4(ATM):c.72+8del
|
|
|
NM_000051.4(ATM):c.72+9T>C
|
rs2135007450
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=)
|
rs1591151390
|
|
NM_000051.4(ATM):c.7218A>G (p.Lys2406=)
|
rs1321705346
|
|
NM_000051.4(ATM):c.7221A>C (p.Ser2407=)
|
rs786201881
|
|
NM_000051.4(ATM):c.7221A>T (p.Ser2407=)
|
rs786201881
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7236C>T (p.Asn2412=)
|
|
|
NM_000051.4(ATM):c.7239G>A (p.Lys2413=)
|
rs1555122182
|
|
NM_000051.4(ATM):c.7242A>G (p.Gln2414=)
|
rs761907546
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7251G>A (p.Leu2417=)
|
rs2136420487
|
|
NM_000051.4(ATM):c.7257A>G (p.Arg2419=)
|
rs1591151857
|
|
NM_000051.4(ATM):c.7263A>G (p.Lys2421=)
|
rs1555122232
|
|
NM_000051.4(ATM):c.726T>C (p.Thr242=)
|
rs1555067070
|
|
NM_000051.4(ATM):c.7278C>T (p.Leu2426=)
|
rs2136422492
|
|
NM_000051.4(ATM):c.7281T>C (p.Leu2427=)
|
rs1239369148
|
|
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)
|
rs1591152279
|
|
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
|
|
|
NM_000051.4(ATM):c.7290T>C (p.His2430=)
|
rs876658715
|
|
NM_000051.4(ATM):c.7299G>A (p.Gln2433=)
|
rs1057520451
|
|
NM_000051.4(ATM):c.73-11T>A
|
rs2135009950
|
|
NM_000051.4(ATM):c.73-12T>C
|
rs2078815559
|
|
NM_000051.4(ATM):c.73-14C>T
|
|
|
NM_000051.4(ATM):c.73-18T>G
|
|
|
NM_000051.4(ATM):c.73-4T>G
|
rs1565344387
|
|
NM_000051.4(ATM):c.73-9T>A
|
rs1591446620
|
|
NM_000051.4(ATM):c.73-9T>C
|
rs1591446620
|
|
NM_000051.4(ATM):c.7302A>G (p.Thr2434=)
|
rs752125292
|
|
NM_000051.4(ATM):c.7307+14T>C
|
|
|
NM_000051.4(ATM):c.7307+15A>G
|
|
|
NM_000051.4(ATM):c.7307+17A>T
|
|
|
NM_000051.4(ATM):c.7307+18A>G
|
rs777909508
|
|
NM_000051.4(ATM):c.7307+19G>T
|
|
|
NM_000051.4(ATM):c.7307+19del
|
|
|
NM_000051.4(ATM):c.7307+20T>C
|
|
|
NM_000051.4(ATM):c.7307+7A>G
|
|
|
NM_000051.4(ATM):c.7307+8G>C
|
rs1057523631
|
|
NM_000051.4(ATM):c.7308-10T>C
|
rs745319720
|
|
NM_000051.4(ATM):c.7308-10dup
|
rs1555122910
|
|
NM_000051.4(ATM):c.7308-11T>C
|
rs1565529149
|
|
NM_000051.4(ATM):c.7308-15_7308-12dup
|
rs2136450158
|
|
NM_000051.4(ATM):c.7308-17T>C
|
|
|
NM_000051.4(ATM):c.7308-17T>G
|
|
|
NM_000051.4(ATM):c.7308-19C>A
|
rs2136449985
|
|
NM_000051.4(ATM):c.7308-20_7308-16del
|
rs2136449779
|
|
NM_000051.4(ATM):c.7308-4C>T
|
|
|
NM_000051.4(ATM):c.7308-5G>A
|
rs2086108867
|
|
NM_000051.4(ATM):c.7308-8T>C
|
rs1555122924
|
|
NM_000051.4(ATM):c.7308-8T>G
|
|
|
NM_000051.4(ATM):c.7308-9C>A
|
rs878853541
|
|
NM_000051.4(ATM):c.7308-9C>T
|
rs878853541
|
|
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=)
|
rs763470424
|
|
NM_000051.4(ATM):c.732T>A (p.Ala244=)
|
rs2135239123
|
|
NM_000051.4(ATM):c.7333C>T (p.Leu2445=)
|
rs763068664
|
|
NM_000051.4(ATM):c.7335G>A (p.Leu2445=)
|
rs2136453475
|
|
NM_000051.4(ATM):c.7339T>C (p.Leu2447=)
|
rs1591159997
|
|
NM_000051.4(ATM):c.7347A>G (p.Glu2449=)
|
rs2136454257
|
|
NM_000051.4(ATM):c.7350A>G (p.Leu2450=)
|
|
|
NM_000051.4(ATM):c.7353C>T (p.Ala2451=)
|
rs1591160115
|
|
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
|
|
|
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
|
|
|
NM_000051.4(ATM):c.735C>G (p.Val245=)
|
rs3218674
|
|
NM_000051.4(ATM):c.7362A>C (p.Ala2454=)
|
rs1591160216
|
|
NM_000051.4(ATM):c.7365G>A (p.Leu2455=)
|
rs756506590
|
|
NM_000051.4(ATM):c.7365G>C (p.Leu2455=)
|
rs756506590
|
|
NM_000051.4(ATM):c.7368A>G (p.Lys2456=)
|
rs2136455679
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
NM_000051.4(ATM):c.7389A>G (p.Leu2463=)
|
rs2136457026
|
|
NM_000051.4(ATM):c.738C>T (p.Asn246=)
|
|
|
NM_000051.4(ATM):c.7398A>G (p.Ala2466=)
|
rs2136457427
|
|
NM_000051.4(ATM):c.7401T>G (p.Val2467=)
|
rs1565529761
|
|
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=)
|
rs1555123144
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
NM_000051.4(ATM):c.7420T>C (p.Leu2474=)
|
rs1555123149
|
|
NM_000051.4(ATM):c.7422A>G (p.Leu2474=)
|
rs1591160792
|
|
NM_000051.4(ATM):c.7423T>C (p.Leu2475=)
|
rs2136459027
|
|
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)
|
rs1555123162
|
|
NM_000051.4(ATM):c.7434A>G (p.Glu2478=)
|
rs1555123171
|
|
NM_000051.4(ATM):c.7437A>G (p.Glu2479=)
|
rs1591160964
|
|
NM_000051.4(ATM):c.7443T>C (p.Asp2481=)
|
rs1555123181
|
|
NM_000051.4(ATM):c.744A>C (p.Arg248=)
|
rs1591503905
|
|
NM_000051.4(ATM):c.7452A>G (p.Val2484=)
|
rs2136460667
|
|
NM_000051.4(ATM):c.7461T>G (p.Leu2487=)
|
|
|
NM_000051.4(ATM):c.7464T>C (p.Cys2488=)
|
rs1555123227
|
|
NM_000051.4(ATM):c.7467C>A (p.Ser2489=)
|
rs767846264
|
|
NM_000051.4(ATM):c.7467C>T (p.Ser2489=)
|
rs767846264
|
|
NM_000051.4(ATM):c.7470C>G (p.Leu2490=)
|
rs1057521604
|
|
NM_000051.4(ATM):c.7476T>G (p.Leu2492=)
|
rs2136462119
|
|
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)
|
|
|
NM_000051.4(ATM):c.7500C>T (p.Val2500=)
|
rs1060504286
|
|
NM_000051.4(ATM):c.750A>C (p.Arg250=)
|
|
|
NM_000051.4(ATM):c.7515+14A>C
|
|
|
NM_000051.4(ATM):c.7515+14A>G
|
|
|
NM_000051.4(ATM):c.7515+18C>A
|
|
|
NM_000051.4(ATM):c.7515+19A>T
|
rs879254202
|
|
NM_000051.4(ATM):c.7515+22_7515+23del
|
rs2136466787
|
|
NM_000051.4(ATM):c.7515+7G>A
|
rs2136465577
|
|
NM_000051.4(ATM):c.7515+9T>A
|
rs1465593444
|
|
NM_000051.4(ATM):c.7515+9T>G
|
rs1465593444
|
|
NM_000051.4(ATM):c.7516-11T>G
|
|
|
NM_000051.4(ATM):c.7516-13T>G
|
rs2136489988
|
|
NM_000051.4(ATM):c.7516-14T>A
|
|
|
NM_000051.4(ATM):c.7516-14T>C
|
rs1254619756
|
|
NM_000051.4(ATM):c.7516-16T>C
|
rs2086218796
|
|
NM_000051.4(ATM):c.7516-16T>G
|
|
|
NM_000051.4(ATM):c.7516-18T>A
|
|
|
NM_000051.4(ATM):c.7516-20T>C
|
|
|
NM_000051.4(ATM):c.7516-20T>G
|
rs2136489275
|
|
NM_000051.4(ATM):c.7516-4G>T
|
rs876660105
|
|
NM_000051.4(ATM):c.7516-6T>C
|
rs1057521003
|
|
NM_000051.4(ATM):c.7516-7del
|
rs1591166840
|
|
NM_000051.4(ATM):c.7516-8A>T
|
rs2136490103
|
|
NM_000051.4(ATM):c.7516-9T>A
|
rs2086219990
|
|
NM_000051.4(ATM):c.7518A>G (p.Arg2506=)
|
rs2086221982
|
|
NM_000051.4(ATM):c.7533T>C (p.Ile2511=)
|
rs786201279
|
|
NM_000051.4(ATM):c.7536A>G (p.Pro2512=)
|
rs786202802
|
|
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
|
|
|
NM_000051.4(ATM):c.7539A>T (p.Thr2513=)
|
|
|
NM_000051.4(ATM):c.7557T>C (p.Leu2519=)
|
rs1060504266
|
|
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)
|
rs1565532289
|
|
NM_000051.4(ATM):c.756T>C (p.Cys252=)
|
rs2079762952
|
|
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)
|
|
|
NM_000051.4(ATM):c.7587C>T (p.Thr2529=)
|
rs890244103
|
|
NM_000051.4(ATM):c.7599A>G (p.Gly2533=)
|
rs2136497122
|
|
NM_000051.4(ATM):c.759A>G (p.Glu253=)
|
rs2135239992
|
|
NM_000051.4(ATM):c.7605A>G (p.Leu2535=)
|
rs1591167954
|
|
NM_000051.4(ATM):c.7614T>C (p.His2538=)
|
|
|
NM_000051.4(ATM):c.7623C>T (p.Leu2541=)
|
rs2086235791
|
|
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)
|
|
|
NM_000051.4(ATM):c.7629+12T>G
|
|
|
NM_000051.4(ATM):c.7629+12_7629+15del
|
rs1555124156
|
|
NM_000051.4(ATM):c.7629+13G>A
|
rs563651647
|
|
NM_000051.4(ATM):c.7629+14A>C
|
|
|
NM_000051.4(ATM):c.7629+14A>G
|
rs2136500635
|
|
NM_000051.4(ATM):c.7629+7A>T
|
|
|
NM_000051.4(ATM):c.7629+9A>C
|
rs2136500176
|
|
NM_000051.4(ATM):c.7630-11T>C
|
|
|
NM_000051.4(ATM):c.7630-12C>A
|
|
|
NM_000051.4(ATM):c.7630-16A>G
|
rs2136513501
|
|
NM_000051.4(ATM):c.7630-16_7630-10del
|
rs2136513424
|
|
NM_000051.4(ATM):c.7630-16_7630-14del
|
|
|
NM_000051.4(ATM):c.7630-19A>C
|
|
|
NM_000051.4(ATM):c.7630-19A>G
|
|
|
NM_000051.4(ATM):c.7630-7C>T
|
rs730881276
|
|
NM_000051.4(ATM):c.7632A>C (p.Leu2544=)
|
rs1363431568
|
|
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)
|
|
|
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
|
|
|
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)
|
rs1591171175
|
|
NM_000051.4(ATM):c.7653T>C (p.Asp2551=)
|
|
|
NM_000051.4(ATM):c.7656C>T (p.His2552=)
|
rs1555124473
|
|
NM_000051.4(ATM):c.7659C>T (p.Pro2553=)
|
rs1591171386
|
|
NM_000051.4(ATM):c.765A>C (p.Gly255=)
|
rs1591504056
|
|
NM_000051.4(ATM):c.765A>G (p.Gly255=)
|
rs1591504056
|
|
NM_000051.4(ATM):c.7665C>T (p.His2555=)
|
rs908781160
|
|
NM_000051.4(ATM):c.7674T>C (p.Phe2558=)
|
rs1291388225
|
|
NM_000051.4(ATM):c.7677T>C (p.Ile2559=)
|
rs2136519388
|
|
NM_000051.4(ATM):c.7681C>T (p.Leu2561=)
|
rs1060504314
|
|
NM_000051.4(ATM):c.7683G>C (p.Leu2561=)
|
rs2136519792
|
|
NM_000051.4(ATM):c.7695T>C (p.Asn2565=)
|
rs2086296795
|
|
NM_000051.4(ATM):c.7698A>G (p.Ala2566=)
|
|
|
NM_000051.4(ATM):c.7701C>T (p.Asn2567=)
|
rs786201637
|
|
NM_000051.4(ATM):c.7710A>G (p.Glu2570=)
|
rs760215505
|
|
NM_000051.4(ATM):c.7714C>T (p.Leu2572=)
|
rs1472587727
|
|
NM_000051.4(ATM):c.7719T>G (p.Thr2573=)
|
rs2136523339
|
|
NM_000051.4(ATM):c.771A>G (p.Glu257=)
|
rs786201068
|
|
NM_000051.4(ATM):c.7731A>G (p.Val2577=)
|
rs2136524528
|
|
NM_000051.4(ATM):c.7734C>G (p.Ala2578=)
|
rs753442840
|
|
NM_000051.4(ATM):c.7734C>T (p.Ala2578=)
|
rs753442840
|
|
NM_000051.4(ATM):c.7735A>C (p.Arg2579=)
|
rs2136524882
|
|
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
|
|
|
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
|
|
|
NM_000051.4(ATM):c.7749A>T (p.Ile2583=)
|
rs2136526242
|
|
NM_000051.4(ATM):c.7752T>C (p.Thr2584=)
|
rs2136526454
|
|
NM_000051.4(ATM):c.7758T>C (p.Asn2586=)
|
rs2136526693
|
|
NM_000051.4(ATM):c.7764T>A (p.Pro2588=)
|
rs1591172609
|
|
NM_000051.4(ATM):c.7770A>G (p.Gln2590=)
|
rs864622437
|
|
NM_000051.4(ATM):c.7773C>T (p.Ser2591=)
|
rs1045232065
|
|
NM_000051.4(ATM):c.7776T>G (p.Ser2592=)
|
|
|
NM_000051.4(ATM):c.777T>A (p.Leu259=)
|
|
|
NM_000051.4(ATM):c.777T>C (p.Leu259=)
|
rs2135240556
|
|
NM_000051.4(ATM):c.7782T>A (p.Leu2594=)
|
rs905474729
|
|
NM_000051.4(ATM):c.7785T>C (p.Asp2595=)
|
rs34838175
|
|
NM_000051.4(ATM):c.7788+10T>C
|
rs1555124759
|
|
NM_000051.4(ATM):c.7788+10T>G
|
rs1555124759
|
|
NM_000051.4(ATM):c.7788+12A>T
|
rs1555124760
|
|
NM_000051.4(ATM):c.7788+18_7788+19del
|
|
|
NM_000051.4(ATM):c.7788+19C>G
|
rs201990371
|
|
NM_000051.4(ATM):c.7788+20G>T
|
|
|
NM_000051.4(ATM):c.7788+20_7788+24del
|
|
|
NM_000051.4(ATM):c.7788+8G>C
|
|
|
NM_000051.4(ATM):c.7788+9A>G
|
rs1182105888
|
|
NM_000051.4(ATM):c.7789-11T>C
|
|
|
NM_000051.4(ATM):c.7789-14T>C
|
|
|
NM_000051.4(ATM):c.7789-16T>C
|
|
|
NM_000051.4(ATM):c.7789-16T>G
|
|
|
NM_000051.4(ATM):c.7789-19T>C
|
rs560800769
|
|
NM_000051.4(ATM):c.7789-29_7789-16del
|
|
|
NM_000051.4(ATM):c.7789-5A>C
|
|
|
NM_000051.4(ATM):c.7789-5A>G
|
|
|
NM_000051.4(ATM):c.7789-9T>C
|
|
|
NM_000051.4(ATM):c.7794A>C (p.Arg2598=)
|
rs1555125220
|
|
NM_000051.4(ATM):c.7797A>G (p.Thr2599=)
|
rs2086405045
|
|
NM_000051.4(ATM):c.7800G>A (p.Glu2600=)
|
rs1591178097
|
|
NM_000051.4(ATM):c.7809T>C (p.Asn2603=)
|
rs2136562134
|
|
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)
|
rs768423205
|
|
NM_000051.4(ATM):c.7828A>C (p.Arg2610=)
|
|
|
NM_000051.4(ATM):c.7833T>C (p.Ser2611=)
|
rs2136564372
|
|
NM_000051.4(ATM):c.7834A>C (p.Arg2612=)
|
rs1305691166
|
|
NM_000051.4(ATM):c.7836G>A (p.Arg2612=)
|
rs761324887
|
|
NM_000051.4(ATM):c.7842T>G (p.Pro2614=)
|
rs876660827
|
|
NM_000051.4(ATM):c.7860T>G (p.Val2620=)
|
rs1555125353
|
|
NM_000051.4(ATM):c.7878T>G (p.Ala2626=)
|
rs2086422316
|
|
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=)
|
rs2086423868
|
|
NM_000051.4(ATM):c.7899A>G (p.Leu2633=)
|
rs2086426925
|
|
NM_000051.4(ATM):c.78A>G (p.Glu26=)
|
rs786202953
|
|
NM_000051.4(ATM):c.7911G>A (p.Gln2637=)
|
rs2136572151
|
|
NM_000051.4(ATM):c.7917G>A (p.Lys2639=)
|
rs1555125501
|
|
NM_000051.4(ATM):c.7927+12T>C
|
|
|
NM_000051.4(ATM):c.7927+13T>C
|
|
|
NM_000051.4(ATM):c.7927+14A>C
|
rs770850205
|
|
NM_000051.4(ATM):c.7927+14A>G
|
rs770850205
|
|
NM_000051.4(ATM):c.7927+14A>T
|
|
|
NM_000051.4(ATM):c.7927+16A>C
|
rs746438364
|
|
NM_000051.4(ATM):c.7927+17G>A
|
rs774276048
|
|
NM_000051.4(ATM):c.7927+20G>T
|
|
|
NM_000051.4(ATM):c.7928-15C>A
|
|
|
NM_000051.4(ATM):c.7928-18C>G
|
|
|
NM_000051.4(ATM):c.7928-18C>T
|
|
|
NM_000051.4(ATM):c.7928-3C>T
|
rs1555126153
|
|
NM_000051.4(ATM):c.7928-4A>C
|
rs876658629
|
|
NM_000051.4(ATM):c.7928-4A>G
|
rs876658629
|
|
NM_000051.4(ATM):c.7928-5T>C
|
rs1591183992
|
|
NM_000051.4(ATM):c.7928-7A>T
|
|
|
NM_000051.4(ATM):c.7928-9T>C
|
rs1060504261
|
|
NM_000051.4(ATM):c.792T>C (p.Tyr264=)
|
|
|
NM_000051.4(ATM):c.7947A>C (p.Ala2649=)
|
rs1060504301
|
|
NM_000051.4(ATM):c.7947A>G (p.Ala2649=)
|
rs1060504301
|
|
NM_000051.4(ATM):c.7950C>T (p.Asp2650=)
|
rs1060504298
|
|
NM_000051.4(ATM):c.7959T>C (p.Ile2653=)
|
rs2136613483
|
|
NM_000051.4(ATM):c.795T>A (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.795T>C (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.7968T>C (p.Leu2656=)
|
rs1591184410
|
|
NM_000051.4(ATM):c.7971G>A (p.Lys2657=)
|
|
|
NM_000051.4(ATM):c.7977A>G (p.Leu2659=)
|
rs2136615106
|
|
NM_000051.4(ATM):c.7992C>T (p.Val2664=)
|
rs1591184637
|
|
NM_000051.4(ATM):c.7995T>A (p.Pro2665=)
|
rs1591184714
|
|
NM_000051.4(ATM):c.7995T>G (p.Pro2665=)
|
rs1591184714
|
|
NM_000051.4(ATM):c.7C>T (p.Leu3=)
|
|
|
NM_000051.4(ATM):c.8010+11A>C
|
rs760588708
|
|
NM_000051.4(ATM):c.8010+11A>G
|
|
|
NM_000051.4(ATM):c.8010+14A>T
|
rs2136618870
|
|
NM_000051.4(ATM):c.8010+18C>A
|
rs2086560371
|
|
NM_000051.4(ATM):c.8010+18C>G
|
|
|
NM_000051.4(ATM):c.8010+18_8010+19del
|
rs750095790
|
|
NM_000051.4(ATM):c.8010+19T>C
|
rs1555126346
|
|
NM_000051.4(ATM):c.8010+19T>G
|
|
|
NM_000051.4(ATM):c.8010+20T>C
|
rs2136619908
|
|
NM_000051.4(ATM):c.8010+21_8010+24del
|
|
|
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCTTGATTTTTTTT
|
rs2136618959
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
NM_000051.4(ATM):c.8010+9C>T
|
|
|
NM_000051.4(ATM):c.8011-12T>C
|
rs2136651285
|
|
NM_000051.4(ATM):c.8011-13A>T
|
|
|
NM_000051.4(ATM):c.8011-16T>C
|
rs776948701
|
|
NM_000051.4(ATM):c.8011-20C>A
|
|
|
NM_000051.4(ATM):c.8011-20C>T
|
|
|
NM_000051.4(ATM):c.8011-4_8011-2del
|
rs2136651774
|
|
NM_000051.4(ATM):c.8011-6T>C
|
rs762092284
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
NM_000051.4(ATM):c.8011-7T>C
|
rs2136651700
|
|
NM_000051.4(ATM):c.8011-8T>G
|
rs1189310621
|
|
NM_000051.4(ATM):c.8011-9T>C
|
rs1591190803
|
|
NM_000051.4(ATM):c.8016C>T (p.Asp2672=)
|
rs1591191019
|
|
NM_000051.4(ATM):c.8028A>G (p.Glu2676=)
|
rs1389648050
|
|
NM_000051.4(ATM):c.8043G>T (p.Val2681=)
|
|
|
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)
|
rs876660435
|
|
NM_000051.4(ATM):c.8074T>C (p.Leu2692=)
|
|
|
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)
|
rs540266635
|
|
NM_000051.4(ATM):c.8085T>C (p.Gly2695=)
|
|
|
NM_000051.4(ATM):c.8088A>G (p.Val2696=)
|
rs2136659987
|
|
NM_000051.4(ATM):c.8091T>C (p.Asn2697=)
|
rs756887364
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
NM_000051.4(ATM):c.8103A>T (p.Ile2701=)
|
rs779803253
|
|
NM_000051.4(ATM):c.8115A>C (p.Val2705=)
|
rs1188411746
|
|
NM_000051.4(ATM):c.8118T>C (p.Gly2706=)
|
rs1057520990
|
|
NM_000051.4(ATM):c.8124T>C (p.Asp2708=)
|
rs587781990
|
|
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
|
|
|
NM_000051.4(ATM):c.8133G>A (p.Glu2711=)
|
rs1591192322
|
|
NM_000051.4(ATM):c.8145T>C (p.Leu2715=)
|
|
|
NM_000051.4(ATM):c.8151+11C>A
|
rs555381912
|
|
NM_000051.4(ATM):c.8151+11_8151+17del
|
|
|
NM_000051.4(ATM):c.8151+13T>G
|
|
|
NM_000051.4(ATM):c.8151+17C>T
|
rs761029795
|
|
NM_000051.4(ATM):c.8151+3G>A
|
rs760065522
|
|
NM_000051.4(ATM):c.8152-11T>C
|
rs2136690464
|
|
NM_000051.4(ATM):c.8152-17del
|
rs2136689987
|
|
NM_000051.4(ATM):c.8152-18T>C
|
|
|
NM_000051.4(ATM):c.8152-20C>G
|
|
|
NM_000051.4(ATM):c.8152-20C>T
|
rs1555128158
|
|
NM_000051.4(ATM):c.8152-4G>A
|
|
|
NM_000051.4(ATM):c.8152-4G>C
|
|
|
NM_000051.4(ATM):c.8152-5T>C
|
|
|
NM_000051.4(ATM):c.8152-7T>C
|
rs2086778829
|
|
NM_000051.4(ATM):c.8152-8T>C
|
|
|
NM_000051.4(ATM):c.8152-9A>G
|
rs1555128181
|
|
NM_000051.4(ATM):c.8152-9A>T
|
|
|
NM_000051.4(ATM):c.8154C>G (p.Gly2718=)
|
rs371021126
|
|
NM_000051.4(ATM):c.8157T>C (p.Arg2719=)
|
rs2136691533
|
|
NM_000051.4(ATM):c.8166G>C (p.Leu2722=)
|
|
|
NM_000051.4(ATM):c.8178T>G (p.Ala2726=)
|
rs367575159
|
|
NM_000051.4(ATM):c.8181C>T (p.Val2727=)
|
rs2136693653
|
|
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)
|
rs587781946
|
|
NM_000051.4(ATM):c.8193C>A (p.Val2731=)
|
rs1060504307
|
|
NM_000051.4(ATM):c.81T>G (p.Val27=)
|
rs2135010830
|
|
NM_000051.4(ATM):c.8205T>C (p.Cys2735=)
|
rs2136696071
|
|
NM_000051.4(ATM):c.8208T>C (p.Asn2736=)
|
rs1057523318
|
|
NM_000051.4(ATM):c.8211A>G (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8215C>T (p.Leu2739=)
|
rs1060504311
|
|
NM_000051.4(ATM):c.8217G>T (p.Leu2739=)
|
rs759069006
|
|
NM_000051.4(ATM):c.8220G>A (p.Gln2740=)
|
rs1060504313
|
|
NM_000051.4(ATM):c.8226C>T (p.Asn2742=)
|
rs2136697809
|
|
NM_000051.4(ATM):c.8235T>C (p.Thr2745=)
|
rs2136698319
|
|
NM_000051.4(ATM):c.823T>C (p.Leu275=)
|
|
|
NM_000051.4(ATM):c.8244G>A (p.Arg2748=)
|
rs1591199166
|
|
NM_000051.4(ATM):c.8259T>C (p.Cys2753=)
|
|
|
NM_000051.4(ATM):c.8262T>G (p.Thr2754=)
|
rs1057521506
|
|
NM_000051.4(ATM):c.8268+14C>T
|
rs1057520231
|
|
NM_000051.4(ATM):c.8268+15T>A
|
rs1555128691
|
|
NM_000051.4(ATM):c.8268+15T>G
|
rs1555128691
|
|
NM_000051.4(ATM):c.8268+17_8268+18del
|
|
|
NM_000051.4(ATM):c.8268+19G>T
|
rs1415660878
|
|
NM_000051.4(ATM):c.8268+22_8268+25del
|
rs746285826
|
|
NM_000051.4(ATM):c.8268+7A>G
|
rs1057524565
|
|
NM_000051.4(ATM):c.8268+7A>T
|
rs1057524565
|
|
NM_000051.4(ATM):c.8268+8T>A
|
rs1263247290
|
|
NM_000051.4(ATM):c.8268+8T>G
|
|
|
NM_000051.4(ATM):c.8268+9T>C
|
rs2136701769
|
|
NM_000051.4(ATM):c.8269-10G>A
|
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
NM_000051.4(ATM):c.8269-12C>G
|
|
|
NM_000051.4(ATM):c.8269-12C>T
|
|
|
NM_000051.4(ATM):c.8269-13del
|
rs2136938446
|
|
NM_000051.4(ATM):c.8269-18_8269-15del
|
rs1064794684
|
|
NM_000051.4(ATM):c.8269-19del
|
|
|
NM_000051.4(ATM):c.8269-20T>C
|
|
|
NM_000051.4(ATM):c.8269-5T>G
|
rs1555135331
|
|
NM_000051.4(ATM):c.8269-6C>T
|
rs1284643640
|
|
NM_000051.4(ATM):c.8269-6dup
|
|
|
NM_000051.4(ATM):c.8269-9T>C
|
rs2136938827
|
|
NM_000051.4(ATM):c.8277C>T (p.Pro2759=)
|
rs878853548
|
|
NM_000051.4(ATM):c.8283T>G (p.Ser2761=)
|
rs1591247541
|
|
NM_000051.4(ATM):c.8289A>G (p.Arg2763=)
|
rs2136941755
|
|
NM_000051.4(ATM):c.8292T>C (p.Ser2764=)
|
rs781690523
|
|
NM_000051.4(ATM):c.8301T>C (p.Leu2767=)
|
rs1060504303
|
|
NM_000051.4(ATM):c.8301T>G (p.Leu2767=)
|
rs1060504303
|
|
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
|
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8313A>G (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8319T>C (p.Thr2773=)
|
rs1591248170
|
|
NM_000051.4(ATM):c.8322C>A (p.Val2774=)
|
rs1060504267
|
|
NM_000051.4(ATM):c.8322C>T (p.Val2774=)
|
|
|
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)
|
|
|
NM_000051.4(ATM):c.8346C>T (p.Asn2782=)
|
rs999357615
|
|
NM_000051.4(ATM):c.8367A>G (p.Lys2789=)
|
rs1393366622
|
|
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8379A>G (p.Pro2793=)
|
|
|
NM_000051.4(ATM):c.837T>A (p.Ile279=)
|
rs2135242369
|
|
NM_000051.4(ATM):c.837T>C (p.Ile279=)
|
rs2135242369
|
|
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
|
|
|
NM_000051.4(ATM):c.8394C>T (p.Ala2798=)
|
rs2136951901
|
|
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
|
|
|
NM_000051.4(ATM):c.8403C>T (p.Cys2801=)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8406A>G (p.Gln2802=)
|
rs2136952999
|
|
NM_000051.4(ATM):c.8418+11C>G
|
|
|
NM_000051.4(ATM):c.8418+12C>A
|
|
|
NM_000051.4(ATM):c.8418+12C>T
|
|
|
NM_000051.4(ATM):c.8418+13C>G
|
|
|
NM_000051.4(ATM):c.8418+14A>C
|
rs1555135939
|
|
NM_000051.4(ATM):c.8418+15A>C
|
rs1565558731
|
|
NM_000051.4(ATM):c.8418+15A>G
|
|
|
NM_000051.4(ATM):c.8418+17A>G
|
rs2136955270
|
|
NM_000051.4(ATM):c.8418+18T>C
|
|
|
NM_000051.4(ATM):c.8418+681A>C
|
|
|
NM_000051.4(ATM):c.8418+7G>A
|
rs2136954579
|
|
NM_000051.4(ATM):c.8418+7G>T
|
|
|
NM_000051.4(ATM):c.8418+8A>G
|
rs1591249687
|
|
NM_000051.4(ATM):c.8418+8A>T
|
rs1591249687
|
|
NM_000051.4(ATM):c.8418+9C>T
|
|
|
NM_000051.4(ATM):c.8419-10C>G
|
rs2137022388
|
|
NM_000051.4(ATM):c.8419-11T>C
|
|
|
NM_000051.4(ATM):c.8419-14T>A
|
|
|
NM_000051.4(ATM):c.8419-14T>C
|
rs1441150092
|
|
NM_000051.4(ATM):c.8419-15A>T
|
|
|
NM_000051.4(ATM):c.8419-16T>C
|
rs2137021914
|
|
NM_000051.4(ATM):c.8419-17A>G
|
rs1057520452
|
|
NM_000051.4(ATM):c.8419-18T>C
|
rs2088256725
|
|
NM_000051.4(ATM):c.8419-20T>C
|
|
|
NM_000051.4(ATM):c.8419-22TA[2]
|
rs1257766623
|
|
NM_000051.4(ATM):c.8419-4A>G
|
|
|
NM_000051.4(ATM):c.8419-7T>C
|
rs1591263768
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
NM_000051.4(ATM):c.8419-8A>G
|
rs567215034
|
|
NM_000051.4(ATM):c.8424G>T (p.Val2808=)
|
rs786203870
|
|
NM_000051.4(ATM):c.8433G>A (p.Lys2811=)
|
|
|
NM_000051.4(ATM):c.8445G>A (p.Glu2815=)
|
rs2137026158
|
|
NM_000051.4(ATM):c.8448A>G (p.Lys2816=)
|
rs1555138048
|
|
NM_000051.4(ATM):c.844T>C (p.Leu282=)
|
rs1565371944
|
|
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
|
|
|
NM_000051.4(ATM):c.8454A>G (p.Glu2818=)
|
rs2137026950
|
|
NM_000051.4(ATM):c.8457C>A (p.Val2819=)
|
rs2137027225
|
|
NM_000051.4(ATM):c.8457C>G (p.Val2819=)
|
rs2137027225
|
|
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
|
|
|
NM_000051.4(ATM):c.8469T>C (p.Val2823=)
|
rs1555138081
|
|
NM_000051.4(ATM):c.846A>G (p.Leu282=)
|
rs754008850
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.8472C>T (p.Cys2824=)
|
rs1555138090
|
|
NM_000051.4(ATM):c.8475A>G (p.Gln2825=)
|
rs769656947
|
|
NM_000051.4(ATM):c.8478T>C (p.Asn2826=)
|
rs1315026465
|
|
NM_000051.4(ATM):c.8484A>G (p.Gln2828=)
|
|
|
NM_000051.4(ATM):c.8490T>C (p.Val2830=)
|
rs773149592
|
|
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
|
|
|
NM_000051.4(ATM):c.84G>A (p.Glu28=)
|
rs1591446775
|
|
NM_000051.4(ATM):c.8502C>T (p.Phe2834=)
|
rs1555138167
|
|
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)
|
|
|
NM_000051.4(ATM):c.8514A>G (p.Lys2838=)
|
rs1591264927
|
|
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)
|
rs794727769
|
|
NM_000051.4(ATM):c.8526A>G (p.Pro2842=)
|
rs900737596
|
|
NM_000051.4(ATM):c.8526A>T (p.Pro2842=)
|
rs900737596
|
|
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)
|
|
|
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
|
|
|
NM_000051.4(ATM):c.8545C>A (p.Arg2849=)
|
rs587778080
|
|
NM_000051.4(ATM):c.8548T>C (p.Leu2850=)
|
rs1555138320
|
|
NM_000051.4(ATM):c.8550G>A (p.Leu2850=)
|
rs1591265370
|
|
NM_000051.4(ATM):c.8553T>C (p.Ala2851=)
|
rs2137035844
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
NM_000051.4(ATM):c.8559G>C (p.Thr2853=)
|
rs368058202
|
|
NM_000051.4(ATM):c.855G>A (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.855G>C (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)
|
rs878853550
|
|
NM_000051.4(ATM):c.8565T>C (p.Ser2855=)
|
rs780905851
|
|
NM_000051.4(ATM):c.8568A>G (p.Val2856=)
|
rs2137037514
|
|
NM_000051.4(ATM):c.8568A>T (p.Val2856=)
|
|
|
NM_000051.4(ATM):c.8571T>C (p.Ala2857=)
|
rs786203050
|
|
NM_000051.4(ATM):c.8571T>G (p.Ala2857=)
|
rs786203050
|
|
NM_000051.4(ATM):c.8580T>C (p.Ser2860=)
|
rs1591265841
|
|
NM_000051.4(ATM):c.8584+11dup
|
|
|
NM_000051.4(ATM):c.8584+12G>A
|
|
|
NM_000051.4(ATM):c.8584+12G>C
|
rs2137039977
|
|
NM_000051.4(ATM):c.8584+12del
|
rs2137040055
|
|
NM_000051.4(ATM):c.8584+13T>G
|
|
|
NM_000051.4(ATM):c.8584+14A>G
|
|
|
NM_000051.4(ATM):c.8584+15C>G
|
|
|
NM_000051.4(ATM):c.8584+15_8584+20del
|
rs2137040215
|
|
NM_000051.4(ATM):c.8584+15dup
|
rs2137040530
|
|
NM_000051.4(ATM):c.8584+16A>C
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+17T>C
|
|
|
NM_000051.4(ATM):c.8584+18A>G
|
rs2137040788
|
|
NM_000051.4(ATM):c.8584+19del
|
rs2137040977
|
|
NM_000051.4(ATM):c.8584+20_8584+36del
|
|
|
NM_000051.4(ATM):c.8584+7T>C
|
rs1374271708
|
|
NM_000051.4(ATM):c.8584+7T>G
|
rs1374271708
|
|
NM_000051.4(ATM):c.8584+9_8584+11del
|
rs1064794534
|
|
NM_000051.4(ATM):c.8584+9del
|
rs1565564405
|
|
NM_000051.4(ATM):c.8585-11T>C
|
|
|
NM_000051.4(ATM):c.8585-11T>G
|
rs752428743
|
|
NM_000051.4(ATM):c.8585-12T>C
|
|
|
NM_000051.4(ATM):c.8585-13C>G
|
|
|
NM_000051.4(ATM):c.8585-14T>A
|
|
|
NM_000051.4(ATM):c.8585-14T>G
|
|
|
NM_000051.4(ATM):c.8585-16T>A
|
rs2137076895
|
|
NM_000051.4(ATM):c.8585-17G>A
|
|
|
NM_000051.4(ATM):c.8585-17G>C
|
|
|
NM_000051.4(ATM):c.8585-17_8585-14del
|
rs764013510
|
|
NM_000051.4(ATM):c.8585-18T>C
|
|
|
NM_000051.4(ATM):c.8585-19T>C
|
rs2137076742
|
|
NM_000051.4(ATM):c.8585-4C>G
|
rs1555139447
|
|
NM_000051.4(ATM):c.8585-4C>T
|
rs1555139447
|
|
NM_000051.4(ATM):c.8585-5T>G
|
|
|
NM_000051.4(ATM):c.8585-6C>T
|
rs2137077591
|
|
NM_000051.4(ATM):c.8585-7T>C
|
|
|
NM_000051.4(ATM):c.8585-8T>C
|
rs2137077459
|
|
NM_000051.4(ATM):c.8585-9T>C
|
rs2137077383
|
|
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
|
|
|
NM_000051.4(ATM):c.8589T>C (p.Gly2863=)
|
rs1409265866
|
|
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)
|
|
|
NM_000051.4(ATM):c.8601A>G (p.Gly2867=)
|
rs1565567027
|
|
NM_000051.4(ATM):c.8604T>G (p.Leu2868=)
|
rs2088545756
|
|
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)
|
|
|
NM_000051.4(ATM):c.8610T>C (p.Asp2870=)
|
rs1370524851
|
|
NM_000051.4(ATM):c.8616T>C (p.His2872=)
|
|
|
NM_000051.4(ATM):c.8628C>A (p.Ile2876=)
|
rs1555139577
|
|
NM_000051.4(ATM):c.8628C>T (p.Ile2876=)
|
rs1555139577
|
|
NM_000051.4(ATM):c.8631G>A (p.Leu2877=)
|
rs1064794840
|
|
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)
|
|
|
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
|
|
|
NM_000051.4(ATM):c.8655T>C (p.Leu2885=)
|
rs1555139640
|
|
NM_000051.4(ATM):c.8658A>C (p.Val2886=)
|
rs1377662728
|
|
NM_000051.4(ATM):c.8658A>T (p.Val2886=)
|
rs1377662728
|
|
NM_000051.4(ATM):c.8661T>C (p.His2887=)
|
|
|
NM_000051.4(ATM):c.8668C>T (p.Leu2890=)
|
rs587779874
|
|
NM_000051.4(ATM):c.8671+13A>G
|
|
|
NM_000051.4(ATM):c.8671+15C>G
|
rs1438943849
|
|
NM_000051.4(ATM):c.8671+19G>A
|
|
|
NM_000051.4(ATM):c.8671+19G>T
|
rs1308810219
|
|
NM_000051.4(ATM):c.8671+20T>C
|
rs1057521774
|
|
NM_000051.4(ATM):c.8671+9T>C
|
rs200190537
|
|
NM_000051.4(ATM):c.8672-11C>G
|
rs2089488144
|
|
NM_000051.4(ATM):c.8672-20C>A
|
|
|
NM_000051.4(ATM):c.8672-5T>C
|
rs1591306315
|
|
NM_000051.4(ATM):c.8672-6C>T
|
|
|
NM_000051.4(ATM):c.8672-7A>G
|
rs2137284033
|
|
NM_000051.4(ATM):c.8672-7A>T
|
|
|
NM_000051.4(ATM):c.8672-8T>C
|
|
|
NM_000051.4(ATM):c.8672-9T>C
|
rs2137283941
|
|
NM_000051.4(ATM):c.867C>A (p.Ile289=)
|
|
|
NM_000051.4(ATM):c.8691C>A (p.Gly2897=)
|
rs1555142814
|
|
NM_000051.4(ATM):c.8700T>C (p.Leu2900=)
|
rs2137288094
|
|
NM_000051.4(ATM):c.8706T>C (p.Thr2902=)
|
rs1555142824
|
|
NM_000051.4(ATM):c.8712G>A (p.Glu2904=)
|
rs1349488841
|
|
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)
|
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
NM_000051.4(ATM):c.8718T>A (p.Val2906=)
|
rs1591306810
|
|
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
|
|
|
NM_000051.4(ATM):c.8730C>A (p.Leu2910=)
|
rs551041839
|
|
NM_000051.4(ATM):c.8730C>T (p.Leu2910=)
|
|
|
NM_000051.4(ATM):c.8733C>A (p.Thr2911=)
|
rs1057523011
|
|
NM_000051.4(ATM):c.8733C>T (p.Thr2911=)
|
rs1057523011
|
|
NM_000051.4(ATM):c.8739T>C (p.Asp2913=)
|
rs764778912
|
|
NM_000051.4(ATM):c.873T>C (p.His291=)
|
rs1591504717
|
|
NM_000051.4(ATM):c.8748T>C (p.Asp2916=)
|
rs2137293260
|
|
NM_000051.4(ATM):c.8751C>G (p.Gly2917=)
|
rs779858366
|
|
NM_000051.4(ATM):c.8757C>T (p.Gly2919=)
|
rs987508358
|
|
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)
|
rs781528244
|
|
NM_000051.4(ATM):c.8763G>T (p.Thr2921=)
|
rs781528244
|
|
NM_000051.4(ATM):c.8766T>C (p.Gly2922=)
|
rs1166849874
|
|
NM_000051.4(ATM):c.8769T>C (p.Val2923=)
|
rs1591307335
|
|
NM_000051.4(ATM):c.8769T>G (p.Val2923=)
|
rs1591307335
|
|
NM_000051.4(ATM):c.876G>T (p.Pro292=)
|
rs755860432
|
|
NM_000051.4(ATM):c.8781C>T (p.Phe2927=)
|
rs2137297059
|
|
NM_000051.4(ATM):c.8784A>G (p.Arg2928=)
|
rs1565579622
|
|
NM_000051.4(ATM):c.8786+10A>G
|
rs1591307673
|
|
NM_000051.4(ATM):c.8786+11T>A
|
|
|
NM_000051.4(ATM):c.8786+11T>G
|
rs368627124
|
|
NM_000051.4(ATM):c.8786+14A>C
|
rs2137299188
|
|
NM_000051.4(ATM):c.8786+14A>G
|
rs2137299188
|
|
NM_000051.4(ATM):c.8786+16T>A
|
|
|
NM_000051.4(ATM):c.8786+16T>C
|
rs1057521277
|
|
NM_000051.4(ATM):c.8786+16T>G
|
rs1057521277
|
|
NM_000051.4(ATM):c.8786+17A>G
|
|
|
NM_000051.4(ATM):c.8786+19del
|
rs730881307
|
|
NM_000051.4(ATM):c.8786+20G>A
|
rs56283878
|
|
NM_000051.4(ATM):c.8786+5_8786+9dup
|
rs2137298148
|
|
NM_000051.4(ATM):c.8786+6_8786+9dup
|
rs1312735736
|
|
NM_000051.4(ATM):c.8786+7G>A
|
rs1555142923
|
|
NM_000051.4(ATM):c.8786+8A>G
|
rs4986839
|
|
NM_000051.4(ATM):c.8786+9T>C
|
rs1060504271
|
|
NM_000051.4(ATM):c.8787-11_8787-8dup
|
|
|
NM_000051.4(ATM):c.8787-12G>C
|
rs1565582204
|
|
NM_000051.4(ATM):c.8787-14G>T
|
|
|
NM_000051.4(ATM):c.8787-17_8787-15del
|
rs1349996464
|
|
NM_000051.4(ATM):c.8787-19A>G
|
rs1555143457
|
|
NM_000051.4(ATM):c.8787-20T>A
|
rs1352666899
|
|
NM_000051.4(ATM):c.8787-5T>C
|
rs1479499265
|
|
NM_000051.4(ATM):c.8787-6C>T
|
rs1591313765
|
|
NM_000051.4(ATM):c.8787-7A>G
|
rs1591313741
|
|
NM_000051.4(ATM):c.8787-9dup
|
|
|
NM_000051.4(ATM):c.8790C>T (p.Cys2930=)
|
rs1565582275
|
|
NM_000051.4(ATM):c.87A>G (p.Lys29=)
|
rs1591446799
|
|
NM_000051.4(ATM):c.8802C>G (p.Thr2934=)
|
rs1565582354
|
|
NM_000051.4(ATM):c.8811G>A (p.Val2937=)
|
rs1591314147
|
|
NM_000051.4(ATM):c.8811G>T (p.Val2937=)
|
rs1591314147
|
|
NM_000051.4(ATM):c.8823T>C (p.Ser2941=)
|
rs1060504288
|
|
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
|
|
|
NM_000051.4(ATM):c.8833C>T (p.Leu2945=)
|
rs786203505
|
|
NM_000051.4(ATM):c.8841C>G (p.Thr2947=)
|
rs2137353155
|
|
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
|
|
|
NM_000051.4(ATM):c.8850+13A>G
|
rs2089708352
|
|
NM_000051.4(ATM):c.8850+13dup
|
|
|
NM_000051.4(ATM):c.8850+14T>C
|
rs1294857465
|
|
NM_000051.4(ATM):c.8850+18G>A
|
rs969877924
|
|
NM_000051.4(ATM):c.8850+20A>C
|
rs2137357318
|
|
NM_000051.4(ATM):c.8850+6G>A
|
rs2089704921
|
|
NM_000051.4(ATM):c.8850+7T>C
|
rs2137355586
|
|
NM_000051.4(ATM):c.8850+9T>G
|
rs571828498
|
|
NM_000051.4(ATM):c.8851-10C>G
|
rs1057521676
|
|
NM_000051.4(ATM):c.8851-10C>T
|
rs1057521676
|
|
NM_000051.4(ATM):c.8851-10_8851-7del
|
rs1591384042
|
|
NM_000051.4(ATM):c.8851-12C>G
|
|
|
NM_000051.4(ATM):c.8851-15G>A
|
rs1222455348
|
|
NM_000051.4(ATM):c.8851-15dup
|
rs1565607238
|
|
NM_000051.4(ATM):c.8851-16T>C
|
rs1565607217
|
|
NM_000051.4(ATM):c.8851-17A>G
|
rs2091194046
|
|
NM_000051.4(ATM):c.8851-18T>C
|
|
|
NM_000051.4(ATM):c.8851-20C>T
|
|
|
NM_000051.4(ATM):c.8851-6G>C
|
rs777096209
|
|
NM_000051.4(ATM):c.8851-6_8851-3dup
|
|
|
NM_000051.4(ATM):c.8853C>G (p.Val2951=)
|
rs878853552
|
|
NM_000051.4(ATM):c.8853C>T (p.Val2951=)
|
|
|
NM_000051.4(ATM):c.8856T>C (p.Leu2952=)
|
|
|
NM_000051.4(ATM):c.885C>T (p.Ala295=)
|
rs2135243805
|
|
NM_000051.4(ATM):c.8868A>C (p.Pro2956=)
|
rs1157772894
|
|
NM_000051.4(ATM):c.8868A>T (p.Pro2956=)
|
rs1157772894
|
|
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)
|
|
|
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
|
|
|
NM_000051.4(ATM):c.8889T>C (p.Asn2963=)
|
rs1476881353
|
|
NM_000051.4(ATM):c.888A>G (p.Lys296=)
|
rs1023530965
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
NM_000051.4(ATM):c.8901T>A (p.Ala2967=)
|
|
|
NM_000051.4(ATM):c.8919G>A (p.Arg2973=)
|
rs786203613
|
|
NM_000051.4(ATM):c.891C>G (p.Thr297=)
|
rs575285986
|
|
NM_000051.4(ATM):c.891C>T (p.Thr297=)
|
|
|
NM_000051.4(ATM):c.8928T>C (p.Asp2976=)
|
rs786202343
|
|
NM_000051.4(ATM):c.8934T>C (p.Thr2978=)
|
rs1057521029
|
|
NM_000051.4(ATM):c.8934T>G (p.Thr2978=)
|
rs1057521029
|
|
NM_000051.4(ATM):c.8937G>A (p.Glu2979=)
|
rs876658242
|
|
NM_000051.4(ATM):c.8946T>C (p.Pro2982=)
|
rs780572651
|
|
NM_000051.4(ATM):c.894A>G (p.Gln298=)
|
|
|
NM_000051.4(ATM):c.8950C>T (p.Leu2984=)
|
rs747445236
|
|
NM_000051.4(ATM):c.8952G>A (p.Leu2984=)
|
rs2137884197
|
|
NM_000051.4(ATM):c.8952G>C (p.Leu2984=)
|
rs2137884197
|
|
NM_000051.4(ATM):c.8952G>T (p.Leu2984=)
|
rs2137884197
|
|
NM_000051.4(ATM):c.8958A>C (p.Ala2986=)
|
rs863224567
|
|
NM_000051.4(ATM):c.8958A>T (p.Ala2986=)
|
|
|
NM_000051.4(ATM):c.8967A>G (p.Gln2989=)
|
rs876659033
|
|
NM_000051.4(ATM):c.8979A>C (p.Arg2993=)
|
rs1042288533
|
|
NM_000051.4(ATM):c.8979A>G (p.Arg2993=)
|
rs1042288533
|
|
NM_000051.4(ATM):c.897A>G (p.Glu299=)
|
rs2135244327
|
|
NM_000051.4(ATM):c.8982T>C (p.Asn2994=)
|
rs2137888159
|
|
NM_000051.4(ATM):c.8985C>T (p.Leu2995=)
|
rs771675608
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
NM_000051.4(ATM):c.8987+11T>G
|
rs1555151554
|
|
NM_000051.4(ATM):c.8987+12T>C
|
|
|
NM_000051.4(ATM):c.8987+13T>C
|
|
|
NM_000051.4(ATM):c.8987+5G>C
|
rs876660570
|
|
NM_000051.4(ATM):c.8987+6_8987+17dup
|
|
|
NM_000051.4(ATM):c.8987+7A>G
|
|
|
NM_000051.4(ATM):c.8987+8G>C
|
rs2137889967
|
|
NM_000051.4(ATM):c.8987+9T>C
|
|
|
NM_000051.4(ATM):c.8988-10T>C
|
rs2137901897
|
|
NM_000051.4(ATM):c.8988-12T>A
|
rs1370262422
|
|
NM_000051.4(ATM):c.8988-13T>A
|
|
|
NM_000051.4(ATM):c.8988-13T>C
|
rs756571175
|
|
NM_000051.4(ATM):c.8988-13T>G
|
rs756571175
|
|
NM_000051.4(ATM):c.8988-14G>A
|
|
|
NM_000051.4(ATM):c.8988-16G>A
|
|
|
NM_000051.4(ATM):c.8988-17dup
|
rs2137900748
|
|
NM_000051.4(ATM):c.8988-18T>G
|
|
|
NM_000051.4(ATM):c.8988-18_8988-17del
|
|
|
NM_000051.4(ATM):c.8988-19T>C
|
rs2137900568
|
|
NM_000051.4(ATM):c.8988-5C>T
|
rs1591386387
|
|
NM_000051.4(ATM):c.8988-6C>T
|
|
|
NM_000051.4(ATM):c.8988-7T>A
|
rs1487809821
|
|
NM_000051.4(ATM):c.8988-8G>A
|
rs1555151666
|
|
NM_000051.4(ATM):c.8988-9T>C
|
rs2137902045
|
|
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
|
|
|
NM_000051.4(ATM):c.901+11A>T
|
|
|
NM_000051.4(ATM):c.901+14G>A
|
rs2079777585
|
|
NM_000051.4(ATM):c.901+15T>A
|
rs2135244985
|
|
NM_000051.4(ATM):c.901+17T>A
|
|
|
NM_000051.4(ATM):c.901+17T>C
|
rs774302699
|
|
NM_000051.4(ATM):c.901+18A>G
|
rs1555067368
|
|
NM_000051.4(ATM):c.901+20T>C
|
rs2135245162
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
NM_000051.4(ATM):c.901+7A>C
|
|
|
NM_000051.4(ATM):c.901+8G>A
|
rs1468806933
|
|
NM_000051.4(ATM):c.9012A>G (p.Lys3004=)
|
rs2137907131
|
|
NM_000051.4(ATM):c.9018T>C (p.Ala3006=)
|
rs2091236849
|
|
NM_000051.4(ATM):c.902-10T>C
|
rs2135264378
|
|
NM_000051.4(ATM):c.902-15T>C
|
rs2135264272
|
|
NM_000051.4(ATM):c.902-17A>T
|
|
|
NM_000051.4(ATM):c.902-18T>C
|
|
|
NM_000051.4(ATM):c.902-20T>G
|
|
|
NM_000051.4(ATM):c.902-7A>G
|
rs2135264458
|
|
NM_000051.4(ATM):c.902-8G>T
|
|
|
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
|
|
|
NM_000051.4(ATM):c.9024T>C (p.Arg3008=)
|
rs876658179
|
|
NM_000051.4(ATM):c.9027C>G (p.Val3009=)
|
rs1200351979
|
|
NM_000051.4(ATM):c.9028T>C (p.Leu3010=)
|
|
|
NM_000051.4(ATM):c.9039A>G (p.Leu3013=)
|
rs876659127
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.903T>G (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.9042A>G (p.Gln3014=)
|
rs1060504291
|
|
NM_000051.4(ATM):c.9048A>G (p.Lys3016=)
|
rs553001467
|
|
NM_000051.4(ATM):c.9051G>A (p.Leu3017=)
|
rs1467393169
|
|
NM_000051.4(ATM):c.9051G>C (p.Leu3017=)
|
rs1467393169
|
|
NM_000051.4(ATM):c.9060G>A (p.Val3020=)
|
rs864622625
|
|
NM_000051.4(ATM):c.9063A>G (p.Glu3021=)
|
rs1555151874
|
|
NM_000051.4(ATM):c.9078C>G (p.Leu3026=)
|
rs901284125
|
|
NM_000051.4(ATM):c.9078C>T (p.Leu3026=)
|
rs901284125
|
|
NM_000051.4(ATM):c.9081T>C (p.Ser3027=)
|
rs2091248229
|
|
NM_000051.4(ATM):c.9084T>C (p.Val3028=)
|
rs786203210
|
|
NM_000051.4(ATM):c.9096G>A (p.Val3032=)
|
rs1565609478
|
|
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
|
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
NM_000051.4(ATM):c.9100T>C (p.Leu3034=)
|
rs2091251592
|
|
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
|
|
|
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)
|
|
|
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)
|
|
|
NM_000051.4(ATM):c.9117C>T (p.Ala3039=)
|
rs1289926943
|
|
NM_000051.4(ATM):c.9135C>T (p.Leu3045=)
|
rs2137926498
|
|
NM_000051.4(ATM):c.9144T>A (p.Leu3048=)
|
rs2137927802
|
|
NM_000051.4(ATM):c.9144T>C (p.Leu3048=)
|
rs2137927802
|
|
NM_000051.4(ATM):c.9150A>G (p.Pro3050=)
|
rs2137928625
|
|
NM_000051.4(ATM):c.9153A>C (p.Gly3051=)
|
rs1555152080
|
|
NM_000051.4(ATM):c.9159A>G (p.Lys3053=)
|
rs1060504315
|
|
NM_000051.4(ATM):c.915A>C (p.Ser305=)
|
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
NM_000051.4(ATM):c.9170G>A (p.Ter3057=)
|
|
|
NM_000051.4(ATM):c.925A>C (p.Arg309=)
|
rs876659841
|
|
NM_000051.4(ATM):c.927A>G (p.Arg309=)
|
rs935834518
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000051.4(ATM):c.936A>G (p.Leu312=)
|
rs587782257
|
|
NM_000051.4(ATM):c.939C>T (p.Tyr313=)
|
rs1387179773
|
|
NM_000051.4(ATM):c.943T>C (p.Leu315=)
|
|
|
NM_000051.4(ATM):c.948T>C (p.Tyr316=)
|
rs775091961
|
|
NM_000051.4(ATM):c.951T>C (p.Asp317=)
|
|
|
NM_000051.4(ATM):c.957A>G (p.Leu319=)
|
rs1060501542
|
|
NM_000051.4(ATM):c.963T>C (p.Asn321=)
|
rs863224301
|
|
NM_000051.4(ATM):c.966G>A (p.Glu322=)
|
|
|
NM_000051.4(ATM):c.96C>T (p.Arg32=)
|
rs1305090923
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
NM_000051.4(ATM):c.987A>G (p.Arg329=)
|
rs2079884541
|
|
NM_000051.4(ATM):c.99G>C (p.Leu33=)
|
|
|
NM_000051.4(ATM):c.9A>G (p.Leu3=)
|
rs1555053869
|
|