NM_000051.4(ATM):c.901+25T>G
|
rs1800735
|
0.06260
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_000051.4(ATM):c.662+38T>C
|
rs2235004
|
0.02706
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.497-48T>G
|
rs2235001
|
0.02158
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000051.4(ATM):c.186-17A>G
|
rs4987907
|
0.01587
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_000051.4(ATM):c.3403-34T>A
|
rs148368017
|
0.01280
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_000051.4(ATM):c.3993+40G>A
|
rs3218709
|
0.00933
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000051.4(ATM):c.2922-21T>G
|
rs149096247
|
0.00835
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000051.4(ATM):c.3993+48A>G
|
rs3218712
|
0.00736
|
NM_000051.4(ATM):c.4776+41C>T
|
rs114726455
|
0.00726
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_000051.4(ATM):c.3747-34A>G
|
rs3092840
|
0.00656
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000051.4(ATM):c.5762+27G>A
|
rs3218686
|
0.00428
|
NM_000051.4(ATM):c.2250+22A>C
|
rs3218692
|
0.00419
|
NM_000051.4(ATM):c.2250+34A>C
|
rs3218705
|
0.00419
|
NM_000051.4(ATM):c.5005+18G>A
|
rs76290788
|
0.00414
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_000051.4(ATM):c.5005+21_5005+22insGC
|
rs547799081
|
0.00378
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000051.4(ATM):c.2125-48T>C
|
rs371067508
|
0.00101
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000051.4(ATM):c.3403-15_3403-14insTA
|
rs1555091084
|
0.00021
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
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.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2467-31T>C
|
rs141761716
|
0.00017
|
NM_000051.4(ATM):c.3403-16_3403-15insA
|
rs569564716
|
0.00016
|
NM_000051.4(ATM):c.4110-25G>A
|
rs368881313
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
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.2466+7A>G
|
rs55812024
|
0.00008
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2376+20G>C
|
rs140364468
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.-18G>A
|
rs374303671
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.2013A>T (p.Ile671=)
|
rs1371341017
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.496+18T>A
|
rs762171014
|
0.00003
|
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr)
|
rs766901049
|
0.00003
|
NM_000051.4(ATM):c.1235+20T>G
|
rs762656752
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.5762+6G>A
|
rs776532221
|
0.00002
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1236-8T>C
|
rs756160331
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)
|
rs777301065
|
0.00001
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn)
|
rs1060501565
|
0.00001
|
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)
|
rs750897021
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val)
|
rs876660350
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro)
|
rs876658363
|
0.00001
|
NM_000051.4(ATM):c.3402+9A>G
|
rs761919506
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3994-50C>T
|
rs753142634
|
0.00001
|
NM_000051.4(ATM):c.4109+11T>C
|
rs749158400
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr)
|
rs1555100432
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.5319+6_5319+7del
|
rs777478613
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.79G>A (p.Val27Ile)
|
rs754770960
|
0.00001
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000051.3(ATM):c.3245_3247delinsTGAT
|
|
|
NM_000051.4(ATM):c.-15C>T
|
rs1204830852
|
|
NM_000051.4(ATM):c.-1C>T
|
rs2078804456
|
|
NM_000051.4(ATM):c.-31+238G>A
|
|
|
NM_000051.4(ATM):c.1066-24A>G
|
|
|
NM_000051.4(ATM):c.1066-31del
|
rs35813860
|
|
NM_000051.4(ATM):c.1066-31dup
|
rs35813860
|
|
NM_000051.4(ATM):c.1066-32_1066-31del
|
|
|
NM_000051.4(ATM):c.1066-3C>T
|
rs1565378708
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1367T>A (p.Leu456Ter)
|
|
|
NM_000051.4(ATM):c.1401C>T (p.Asp467=)
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1607+48AC[5]
|
|
|
NM_000051.4(ATM):c.1608-11T>G
|
|
|
NM_000051.4(ATM):c.1802+28G>T
|
|
|
NM_000051.4(ATM):c.1802+33_1802+45del
|
|
|
NM_000051.4(ATM):c.1802+35_1802+36del
|
rs749339972
|
|
NM_000051.4(ATM):c.1802+36dup
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1803-35G>C
|
|
|
NM_000051.4(ATM):c.1803-9T>C
|
rs2135352230
|
|
NM_000051.4(ATM):c.186-33G>A
|
|
|
NM_000051.4(ATM):c.186-40A>G
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
|
|
|
NM_000051.4(ATM):c.2124+19del
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+21A>T
|
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.214A>G (p.Thr72Ala)
|
rs1223998386
|
|
NM_000051.4(ATM):c.216A>G (p.Thr72=)
|
|
|
NM_000051.4(ATM):c.2250+16C>G
|
rs2135395339
|
|
NM_000051.4(ATM):c.2250+29G>A
|
|
|
NM_000051.4(ATM):c.2251-18dup
|
rs730881284
|
|
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys)
|
rs1591546453
|
|
NM_000051.4(ATM):c.2376+40A>G
|
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2421A>G (p.Leu807=)
|
|
|
NM_000051.4(ATM):c.2438A>C (p.Asn813Thr)
|
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
|
|
|
NM_000051.4(ATM):c.2467-48G>A
|
|
|
NM_000051.4(ATM):c.2512A>G (p.Met838Val)
|
rs1555082132
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
|
|
|
NM_000051.4(ATM):c.2565G>C (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2599A>C (p.Ser867Arg)
|
|
|
NM_000051.4(ATM):c.2638+24G>A
|
|
|
NM_000051.4(ATM):c.2638+7A>G
|
rs1555082379
|
|
NM_000051.4(ATM):c.2639-27_2639-22del
|
rs4987971
|
|
NM_000051.4(ATM):c.2639-30T>C
|
|
|
NM_000051.4(ATM):c.2639-30_2639-29del
|
|
|
NM_000051.4(ATM):c.2639-39G>A
|
|
|
NM_000051.4(ATM):c.2639-50A>G
|
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.2716T>A (p.Leu906Met)
|
rs368047468
|
|
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)
|
rs1565419701
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2817C>T (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2838+15A>G
|
|
|
NM_000051.4(ATM):c.2838+28_2838+29insA
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2921+2T>G
|
rs2135549026
|
|
NM_000051.4(ATM):c.2921+38G>C
|
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-8dup
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-9_2922-8del
|
|
|
NM_000051.4(ATM):c.2922-9_2922-8dup
|
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
|
|
|
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3078-10T>G
|
rs2135564722
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
NM_000051.4(ATM):c.3078-45T>C
|
|
|
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)
|
rs748752687
|
|
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3284+3A>G
|
rs1591610398
|
|
NM_000051.4(ATM):c.331+2T>G
|
rs1555055358
|
|
NM_000051.4(ATM):c.331+37C>T
|
|
|
NM_000051.4(ATM):c.331+48C>T
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu)
|
rs1310591343
|
|
NM_000051.4(ATM):c.3402+32_3402+34del
|
rs545376366
|
|
NM_000051.4(ATM):c.3402+39T>C
|
|
|
NM_000051.4(ATM):c.3403-15del
|
|
|
NM_000051.4(ATM):c.3403-15dup
|
rs1555091083
|
|
NM_000051.4(ATM):c.3403-16_3403-15dup
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
NM_000051.4(ATM):c.3513G>T (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3577-46T>C
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3746+27dup
|
|
|
NM_000051.4(ATM):c.3747-28C>A
|
|
|
NM_000051.4(ATM):c.3747-43A>T
|
|
|
NM_000051.4(ATM):c.3747-4T>C
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg)
|
rs770183693
|
|
NM_000051.4(ATM):c.3847_3848dup (p.Leu1283_Thr1284insTer)
|
|
|
NM_000051.4(ATM):c.3993+34C>G
|
|
|
NM_000051.4(ATM):c.3993+40G>T
|
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-32A>G
|
|
|
NM_000051.4(ATM):c.4110-37A>T
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4236+14A>C
|
|
|
NM_000051.4(ATM):c.4237-13_4237-10del
|
|
|
NM_000051.4(ATM):c.4237-29A>G
|
|
|
NM_000051.4(ATM):c.4237-31C>T
|
|
|
NM_000051.4(ATM):c.4237-37dup
|
|
|
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
|
|
|
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
|
|
|
NM_000051.4(ATM):c.4437-14dup
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-32GTT[3]
|
|
|
NM_000051.4(ATM):c.4611+23A>G
|
|
|
NM_000051.4(ATM):c.4611+28G>A
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4641A>C (p.Ile1547=)
|
|
|
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
|
|
|
NM_000051.4(ATM):c.4776+19T>C
|
|
|
NM_000051.4(ATM):c.4776+43_4776+44del
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4909+11T>A
|
|
|
NM_000051.4(ATM):c.490T>C (p.Trp164Arg)
|
rs1060501699
|
|
NM_000051.4(ATM):c.496+36T>C
|
|
|
NM_000051.4(ATM):c.497-46T>C
|
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.497-5_497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.4988G>C (p.Gly1663Ala)
|
|
|
NM_000051.4(ATM):c.5005+21G>A
|
|
|
NM_000051.4(ATM):c.5005+42C>G
|
|
|
NM_000051.4(ATM):c.5006-49G>A
|
|
|
NM_000051.4(ATM):c.5006-50T>C
|
|
|
NM_000051.4(ATM):c.5178-25T>C
|
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.5232G>T (p.Lys1744Asn)
|
|
|
NM_000051.4(ATM):c.5320-48A>G
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val)
|
rs746945284
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5410A>C (p.Ile1804Leu)
|
|
|
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
|
|
|
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)
|
rs1555066377
|
|
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
|
|
|
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
|
|
|
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)
|
rs761257154
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
NM_000051.4(ATM):c.5675-48T>C
|
|
|
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
|
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+26C>T
|
rs78330259
|
|
NM_000051.4(ATM):c.662+48C>T
|
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
NM_000051.4(ATM):c.663-37C>T
|
|
|
NM_000051.4(ATM):c.666A>G (p.Gln222=)
|
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.72+22A>T
|
|
|
NM_000051.4(ATM):c.875del (p.Pro292fs)
|
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|