NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)
|
rs587782202
|
0.00003
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.5805_5809del (p.Asp1935fs)
|
|
|
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
|
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+2T>C
|
|
|
NM_000051.4(ATM):c.5918+2T>G
|
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>T
|
|
|
NM_000051.4(ATM):c.6007-1G>A
|
rs1365726807
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6054_6056dup (p.Tyr2019Ter)
|
|
|
NM_000051.4(ATM):c.6095+2T>A
|
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
|
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)
|
rs866290641
|
|
NM_000051.4(ATM):c.6194_6195del (p.Ile2065fs)
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+2T>C
|
rs1555113882
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
|
|
|
NM_000051.4(ATM):c.6342del (p.Val2115fs)
|
|
|
NM_000051.4(ATM):c.6347+1G>C
|
|
|
NM_000051.4(ATM):c.6347+1G>T
|
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-2A>G
|
rs864622367
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
|
|
|
NM_000051.4(ATM):c.6453-1G>C
|
rs1555117071
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6572+1G>C
|
|
|
NM_000051.4(ATM):c.6572+1G>T
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-2del
|
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6807+1G>A
|
|
|
NM_000051.4(ATM):c.6807+1G>T
|
|
|
NM_000051.4(ATM):c.6807+2T>C
|
rs2136319469
|
|
NM_000051.4(ATM):c.6807+2_6807+14del
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs)
|
rs2136332584
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
|
|
|
NM_000051.4(ATM):c.6933del (p.Leu2312fs)
|
|
|
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
|
|
|
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)
|
rs2136339054
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-2del
|
|
|
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+1G>T
|
rs777741666
|
|
NM_000051.4(ATM):c.7090-1G>A
|
|
|
NM_000051.4(ATM):c.7090-2A>T
|
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
|
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7308-14T>G
|
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7468del (p.Leu2490fs)
|
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
NM_000051.4(ATM):c.7629+1del
|
|
|
NM_000051.4(ATM):c.7629+2T>G
|
|
|
NM_000051.4(ATM):c.7629_7629+1delinsA
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7664del (p.His2555fs)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7783_7788+28del
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
|
|
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.8010+1G>C
|
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+2T>C
|
rs1591184927
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)
|
rs2086676230
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)
|
rs1555127353
|
|
NM_000051.4(ATM):c.8151+1G>A
|
rs1591192583
|
|
NM_000051.4(ATM):c.8151+1G>T
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>C
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-2A>G
|
rs777602049
|
|
NM_000051.4(ATM):c.8201_8211delinsGACCTG (p.Met2734fs)
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8217del (p.Gln2740fs)
|
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
|
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
NM_000051.4(ATM):c.8249T>G (p.Leu2750Ter)
|
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+2T>C
|
rs1565544020
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
|
|
NM_000051.4(ATM):c.8315del (p.Gly2772fs)
|
|
|
NM_000051.4(ATM):c.8363del (p.His2788fs)
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8381del (p.Asn2794fs)
|
rs2136950565
|
|
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8418+1G>A
|
rs766533795
|
|
NM_000051.4(ATM):c.8418+1_8418+3del
|
rs2136953867
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8419-2A>C
|
rs1555137917
|
|
NM_000051.4(ATM):c.8419-3_8419-1del
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)
|
rs2137038745
|
|
NM_000051.4(ATM):c.8584+1G>C
|
rs876658182
|
|
NM_000051.4(ATM):c.8584+2T>A
|
|
|
NM_000051.4(ATM):c.8585-13_8598del
|
rs1555139443
|
|
NM_000051.4(ATM):c.8585-3_8585-1delinsT
|
|
|
NM_000051.4(ATM):c.8598dup (p.Gly2867fs)
|
|
|
NM_000051.4(ATM):c.8671+1G>A
|
|
|
NM_000051.4(ATM):c.8671+1G>C
|
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
NM_000051.4(ATM):c.8671+2del
|
|
|
NM_000051.4(ATM):c.8671_8671+1del
|
|
|
NM_000051.4(ATM):c.8672-14_8675del
|
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
|
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8786+2T>A
|
rs1555142918
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-1dup
|
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8848_8850+3del
|
rs2137353827
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
NM_000051.4(ATM):c.8850+2T>A
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
NM_000051.4(ATM):c.8851-1G>C
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-4_8852del
|
rs2091196613
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9068del (p.Gly3023fs)
|
rs1591387383
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)
|
rs1591387609
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9108dup (p.Gln3037fs)
|
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.9113del (p.Gln3038fs)
|
|
|
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs)
|
rs2137926139
|
|
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
|
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)
|
rs2091262473
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
NM_000051.4(ATM):c.9171A>G (p.Ter3057Trp)
|
|
|