NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)
|
rs761790685
|
0.00002
|
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.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)
|
rs1591128898
|
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.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)
|
rs769142993
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)
|
rs781215442
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
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.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
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.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
NC_000011.10:g.(?_108297287)_(108335961_?)del
|
|
|
NC_000011.10:g.(?_108317363)_(108317531_?)del
|
|
|
NC_000011.10:g.(?_108327635)_(108331567_?)del
|
|
|
NC_000011.10:g.(?_108343212)_(108365518_?)del
|
|
|
NC_000011.10:g.(?_108343222)_(108369099_?)del
|
|
|
NC_000011.10:g.(?_108347269)_(108354884_?)del
|
|
|
NC_000011.10:g.(?_108364109)_(108365518_?)del
|
|
|
NC_000011.10:g.(?_108364109)_(108365528_?)del
|
|
|
NC_000011.10:g.(?_108365072)_(108365518_?)del
|
|
|
NC_000011.10:g.(?_108365076)_(108365514_?)del
|
|
|
NC_000011.10:g.(?_108365082)_(108365508_?)del
|
|
|
NC_000011.9:g.(?_108224473)_(108332286_?)del
|
|
|
NM_000051.3(ATM):c.5902_5903insSVAelement
|
rs2084039379
|
|
NM_000051.4(ATM):c.5763-1G>C
|
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter)
|
rs2084026241
|
|
NM_000051.4(ATM):c.5805_5812del (p.Asp1935fs)
|
rs2136013815
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5807dup (p.Leu1936fs)
|
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.5827A>T (p.Lys1943Ter)
|
|
|
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs)
|
rs2084030667
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
NM_000051.4(ATM):c.5855_5856insCACAGCTTTACTCACTT (p.Tyr1957fs)
|
rs2136016053
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
NM_000051.4(ATM):c.5887del (p.Asp1963fs)
|
|
|
NM_000051.4(ATM):c.5889dup (p.Lys1964Ter)
|
rs2136018060
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5898_5901dup (p.Asp1968fs)
|
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
|
rs2084040947
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5939del (p.Gly1980fs)
|
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
NM_000051.4(ATM):c.5945dup (p.Ser1983fs)
|
rs2136060057
|
|
NM_000051.4(ATM):c.5959del (p.Ser1987fs)
|
rs1555111808
|
|
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)
|
rs1555111808
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5971dup (p.Glu1991fs)
|
rs1591758604
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)
|
rs2084254630
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
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.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.6024del (p.Tyr2009fs)
|
rs2136118352
|
|
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)
|
rs1555113567
|
|
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)
|
rs1555113567
|
|
NM_000051.4(ATM):c.6029del (p.Arg2010fs)
|
|
|
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.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6054_6055del (p.Tyr2019fs)
|
|
|
NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter)
|
rs2136121259
|
|
NM_000051.4(ATM):c.6080del (p.Leu2027fs)
|
rs1060501548
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.6087del (p.Ile2030fs)
|
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6099dup (p.Arg2034fs)
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter)
|
rs3092826
|
|
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)
|
rs3092826
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter)
|
rs864622251
|
|
NM_000051.4(ATM):c.6125G>A (p.Trp2042Ter)
|
rs1565499657
|
|
NM_000051.4(ATM):c.6126G>A (p.Trp2042Ter)
|
rs2084615312
|
|
NM_000051.4(ATM):c.6127_6131dup (p.Leu2046fs)
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6136del (p.Ala2045_Leu2046insTer)
|
|
|
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer)
|
rs2084617417
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter)
|
rs2084619584
|
|
NM_000051.4(ATM):c.6154G>T (p.Glu2052Ter)
|
|
|
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
|
|
|
NM_000051.4(ATM):c.6162_6173delinsG (p.Ile2055fs)
|
|
|
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
|
rs2084621452
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)
|
rs2136132184
|
|
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)
|
rs1361215494
|
|
NM_000051.4(ATM):c.6197_6198dup (p.Ala2067fs)
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+1del
|
rs2136132894
|
|
NM_000051.4(ATM):c.6198+2T>C
|
rs1555113882
|
|
NM_000051.4(ATM):c.6198+2T>G
|
rs1555113882
|
|
NM_000051.4(ATM):c.6199-1G>A
|
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
NM_000051.4(ATM):c.6199-2A>C
|
rs1060501570
|
|
NM_000051.4(ATM):c.6199-2A>T
|
rs1060501570
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)
|
rs1555114563
|
|
NM_000051.4(ATM):c.6217del (p.Leu2073fs)
|
|
|
NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)
|
rs1565502708
|
|
NM_000051.4(ATM):c.6224dup (p.His2075fs)
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6239_6240del (p.Tyr2080fs)
|
rs878853529
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)
|
rs1060501586
|
|
NM_000051.4(ATM):c.6263dup (p.Asn2088fs)
|
rs2084782760
|
|
NM_000051.4(ATM):c.6269_6275dup (p.Cys2092Ter)
|
|
|
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)
|
rs1060501712
|
|
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)
|
rs2136166539
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
NM_000051.4(ATM):c.6295del (p.His2099fs)
|
rs2136167830
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter)
|
rs867760244
|
|
NM_000051.4(ATM):c.6328dup (p.Asp2110fs)
|
|
|
NM_000051.4(ATM):c.6348-989del
|
|
|
NM_000051.4(ATM):c.6351del (p.Glu2118fs)
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
NM_000051.4(ATM):c.6364_6365del (p.Thr2122fs)
|
rs2136219026
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6370dup (p.Tyr2124fs)
|
rs2136219240
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6373del (p.His2125fs)
|
rs878853530
|
|
NM_000051.4(ATM):c.6380C>A (p.Ser2127Ter)
|
|
|
NM_000051.4(ATM):c.6380C>G (p.Ser2127Ter)
|
rs2136219729
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
|
rs2085081161
|
|
NM_000051.4(ATM):c.6388_6392del (p.Asn2130fs)
|
rs2136220112
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6398_6401dup (p.Leu2135fs)
|
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)
|
rs2085083193
|
|
NM_000051.4(ATM):c.6403del (p.Ser2134_Leu2135insTer)
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6404dup (p.Arg2136fs)
|
rs587782554
|
|
NM_000051.4(ATM):c.6406dup (p.Arg2136fs)
|
rs2136220927
|
|
NM_000051.4(ATM):c.6411_6414del (p.Asp2137fs)
|
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
NM_000051.4(ATM):c.6419dup (p.Ser2141fs)
|
|
|
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs)
|
rs2085086552
|
|
NM_000051.4(ATM):c.6433G>T (p.Glu2145Ter)
|
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer)
|
rs1555117084
|
|
NM_000051.4(ATM):c.6468_6472dup (p.Met2158fs)
|
rs2136238826
|
|
NM_000051.4(ATM):c.6468del (p.Glu2157fs)
|
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)
|
rs1317619286
|
|
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)
|
rs1060501707
|
|
NM_000051.4(ATM):c.6502_6508del (p.Ser2168fs)
|
|
|
NM_000051.4(ATM):c.6514del (p.Thr2172fs)
|
|
|
NM_000051.4(ATM):c.6523del (p.Arg2175fs)
|
|
|
NM_000051.4(ATM):c.6523dup (p.Arg2175fs)
|
rs1591107480
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.6537dup (p.Gly2180fs)
|
|
|
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)
|
rs2085204408
|
|
NM_000051.4(ATM):c.6547_6548del (p.Glu2183fs)
|
|
|
NM_000051.4(ATM):c.6555dup (p.Gly2186fs)
|
rs1565511585
|
|
NM_000051.4(ATM):c.6562del (p.Leu2188fs)
|
|
|
NM_000051.4(ATM):c.6565_6566del (p.Phe2189fs)
|
rs2136243287
|
|
NM_000051.4(ATM):c.6566del (p.Phe2189fs)
|
rs2136243287
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter)
|
rs2085552425
|
|
NM_000051.4(ATM):c.6606_6609del (p.Val2201_Tyr2202insTer)
|
rs2136308396
|
|
NM_000051.4(ATM):c.6612_6613insC (p.Trp2205fs)
|
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter)
|
rs2085554912
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.6642delinsGA (p.Asp2214fs)
|
rs2085558165
|
|
NM_000051.4(ATM):c.6643_6644del (p.Asp2214_Ser2215insTer)
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
|
|
|
NM_000051.4(ATM):c.6661del (p.Glu2221fs)
|
|
|
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs)
|
rs2085562005
|
|
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6667del (p.Ile2223fs)
|
rs878853533
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6682del (p.Thr2228fs)
|
|
|
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)
|
rs1565518539
|
|
NM_000051.4(ATM):c.6698del (p.Ile2233fs)
|
|
|
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer)
|
rs2085567158
|
|
NM_000051.4(ATM):c.6706del (p.Glu2236fs)
|
rs2136313589
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6710_6719del (p.Lys2237fs)
|
|
|
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
|
rs1565518711
|
|
NM_000051.4(ATM):c.6728_6755del (p.Gln2243fs)
|
rs2136314501
|
|
NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs)
|
rs1060501543
|
|
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)
|
rs2136315218
|
|
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
|
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
NM_000051.4(ATM):c.6754del (p.Thr2252fs)
|
rs1064793042
|
|
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)
|
rs863224578
|
|
NM_000051.4(ATM):c.6765del (p.Leu2255_Val2256insTer)
|
rs949695076
|
|
NM_000051.4(ATM):c.6769G>T (p.Glu2257Ter)
|
rs2136317336
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
NM_000051.4(ATM):c.6794_6795del (p.Thr2264_Phe2265insTer)
|
|
|
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)
|
rs1555119364
|
|
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6828_6829insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGTGGAATTTGTGCAGGTTAGTTAAATATGTATACATGTGCCATGATGGTCCGCTGCACACACTAATGTTTCATCTAGACATAGGTATATCTCGAAAGGGCAATATTT (p.Gln2277delinsPhePhePhePhePhePheXaaXaaXaaXaaCysGlyIleCysAlaGlyTer)
|
|
|
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.6843del (p.Gln2280_Tyr2281insTer)
|
rs1565520291
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6863del (p.Val2288fs)
|
rs2085652979
|
|
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer)
|
rs886039701
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
|
|
|
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
|
|
|
NM_000051.4(ATM):c.6901del (p.Ala2301fs)
|
|
|
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)
|
rs2085658893
|
|
NM_000051.4(ATM):c.6907A>T (p.Lys2303Ter)
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6910del (p.Glu2304fs)
|
rs1555119940
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6922del (p.Ala2308fs)
|
rs2136337304
|
|
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs)
|
rs2085663022
|
|
NM_000051.4(ATM):c.6933dup (p.Leu2312fs)
|
|
|
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)
|
rs2136338211
|
|
NM_000051.4(ATM):c.6976-1G>A
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-2A>T
|
rs587782403
|
|
NM_000051.4(ATM):c.6996dup (p.Thr2333fs)
|
rs2136373820
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7002C>G (p.Tyr2334Ter)
|
rs2136374351
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)
|
rs1555120985
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7021dup (p.Cys2341fs)
|
rs2136375625
|
|
NM_000051.4(ATM):c.7025del (p.Gly2342fs)
|
rs2136375832
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)
|
rs1555121147
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.7091del (p.Ala2364fs)
|
rs878853538
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)
|
|
|
NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)
|
rs760534895
|
|
NM_000051.4(ATM):c.7125del (p.Ser2375fs)
|
rs2136412237
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7142dup (p.Asn2381fs)
|
rs2136413158
|
|
NM_000051.4(ATM):c.7150dup (p.Met2384fs)
|
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7186del (p.Thr2396fs)
|
rs1555122092
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)
|
rs747372355
|
|
NM_000051.4(ATM):c.7194C>A (p.Tyr2398Ter)
|
rs1591151199
|
|
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
|
rs2085985186
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)
|
rs2085987831
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7223_7225del (p.Ser2408_Glu2409delinsTer)
|
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
NM_000051.4(ATM):c.7249del (p.Leu2416_Leu2417insTer)
|
|
|
NM_000051.4(ATM):c.7261_7262insT (p.Lys2421fs)
|
rs1591151905
|
|
NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter)
|
rs1555122245
|
|
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
|
rs1591152021
|
|
NM_000051.4(ATM):c.7274del (p.Gly2425fs)
|
rs1565527283
|
|
NM_000051.4(ATM):c.7285del (p.Glu2429fs)
|
rs2136422907
|
|
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)
|
rs1060501525
|
|
NM_000051.4(ATM):c.7296del (p.Gln2433fs)
|
rs2136423623
|
|
NM_000051.4(ATM):c.7297C>T (p.Gln2433Ter)
|
|
|
NM_000051.4(ATM):c.7297del (p.Gln2433fs)
|
rs2136423753
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7325_7326insCAACCAACACA (p.Gln2442fs)
|
rs2136452719
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
|
|
|
NM_000051.4(ATM):c.7338dup (p.Leu2447fs)
|
|
|
NM_000051.4(ATM):c.7340T>A (p.Leu2447Ter)
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)
|
rs2086116982
|
|
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs)
|
rs2086117562
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
NM_000051.4(ATM):c.7370_7371dup (p.Asp2458fs)
|
|
|
NM_000051.4(ATM):c.7376del (p.Arg2459fs)
|
rs2086120321
|
|
NM_000051.4(ATM):c.7380del (p.Lys2460fs)
|
rs2136456432
|
|
NM_000051.4(ATM):c.7387_7394del (p.Leu2463fs)
|
|
|
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)
|
rs1064794690
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)
|
rs1224883896
|
|
NM_000051.4(ATM):c.7425_7429del (p.Ser2476fs)
|
rs2136459200
|
|
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
|
|
|
NM_000051.4(ATM):c.7448G>A (p.Trp2483Ter)
|
rs2136460393
|
|
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
|
|
|
NM_000051.4(ATM):c.7456del (p.Arg2486fs)
|
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)
|
rs2136463344
|
|
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer)
|
rs2086137107
|
|
NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)
|
|
|
NM_000051.4(ATM):c.7510dup (p.Met2504fs)
|
rs1591161769
|
|
NM_000051.4(ATM):c.7515+1del
|
rs2136465036
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
|
|
|
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
|
|
|
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs)
|
rs1591167422
|
|
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
|
|
|
NM_000051.4(ATM):c.7550del (p.Leu2517fs)
|
rs2136492942
|
|
NM_000051.4(ATM):c.7554del (p.Met2520fs)
|
|
|
NM_000051.4(ATM):c.7557dup (p.Met2520fs)
|
rs2136493530
|
|
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)
|
rs772228129
|
|
NM_000051.4(ATM):c.7564del (p.Gln2522fs)
|
|
|
NM_000051.4(ATM):c.7585del (p.Thr2529fs)
|
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
NM_000051.4(ATM):c.7599del (p.Gly2534fs)
|
rs2136497216
|
|
NM_000051.4(ATM):c.7603dup (p.Leu2535fs)
|
rs2136497534
|
|
NM_000051.4(ATM):c.7606G>T (p.Gly2536Ter)
|
rs2136497891
|
|
NM_000051.4(ATM):c.7608del (p.His2538fs)
|
rs1565532554
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.7631del (p.Leu2544fs)
|
rs1591171040
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7655_7656insGA (p.His2552fs)
|
rs1565533629
|
|
NM_000051.4(ATM):c.7660del (p.His2554fs)
|
rs2086289400
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
NM_000051.4(ATM):c.7666_7684del (p.Thr2556fs)
|
rs2136518319
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
|
rs2086293039
|
|
NM_000051.4(ATM):c.7670del (p.Leu2557fs)
|
rs1565533778
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7675del (p.Ile2559fs)
|
|
|
NM_000051.4(ATM):c.7676_7680del (p.Ile2559fs)
|
rs2136519174
|
|
NM_000051.4(ATM):c.7679dup (p.Leu2561fs)
|
rs2136519577
|
|
NM_000051.4(ATM):c.7688T>A (p.Leu2563Ter)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs)
|
rs1064793359
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
NM_000051.4(ATM):c.7706del (p.Asp2569fs)
|
rs2086299809
|
|
NM_000051.4(ATM):c.7725del (p.Glu2576fs)
|
|
|
NM_000051.4(ATM):c.7750dup (p.Thr2584fs)
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer)
|
rs2136525978
|
|
NM_000051.4(ATM):c.7764del (p.Lys2589fs)
|
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)
|
rs876659561
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7792del (p.Arg2598fs)
|
rs1591178022
|
|
NM_000051.4(ATM):c.7831del (p.Ser2611fs)
|
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
|
rs766351395
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)
|
rs2086422796
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)
|
rs1591178998
|
|
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)
|
rs2136572656
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7929delA (p.Gly2644fs)
|
rs1064795550
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7953del (p.Gln2651fs)
|
rs2136612771
|
|
NM_000051.4(ATM):c.7960dup (p.Thr2654fs)
|
rs2136613666
|
|
NM_000051.4(ATM):c.7963A>T (p.Lys2655Ter)
|
rs1289658632
|
|
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
|
|
|
NM_000051.4(ATM):c.7975_7976insSVAelement
|
rs2086551043
|
|
NM_000051.4(ATM):c.7976T>G (p.Leu2659Ter)
|
rs1565538536
|
|
NM_000051.4(ATM):c.7976dup (p.Leu2659fs)
|
|
|
NM_000051.4(ATM):c.7978del (p.Glu2660fs)
|
rs1591184471
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8011-1G>T
|
rs1555127017
|
|
NM_000051.4(ATM):c.8011-2A>C
|
rs1591190908
|
|
NM_000051.4(ATM):c.8011-2A>G
|
rs1591190908
|
|
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs)
|
rs2086671320
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
NM_000051.4(ATM):c.8047dup (p.Ile2683fs)
|
rs2086674096
|
|
NM_000051.4(ATM):c.8048_8049del (p.Ile2683fs)
|
rs1565540673
|
|
NM_000051.4(ATM):c.8049_8056dup (p.Phe2686fs)
|
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
|
rs2086675006
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter)
|
rs1555127157
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8102_8103insTA (p.Ile2702fs)
|
rs2136661064
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8110dup (p.Cys2704fs)
|
rs2136661900
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)
|
rs587781990
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
NM_000051.4(ATM):c.8136del (p.Arg2713fs)
|
|
|
NM_000051.4(ATM):c.8139_8142dup (p.Leu2715fs)
|
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
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+2T>C
|
rs2136665852
|
|
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.8170C>T (p.Gln2724Ter)
|
rs2086784990
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)
|
rs587782317
|
|
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs)
|
rs2086789644
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)
|
rs587782525
|
|
NM_000051.4(ATM):c.8207del (p.Asn2736fs)
|
rs587782525
|
|
NM_000051.4(ATM):c.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer)
|
rs2086793763
|
|
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)
|
rs866402530
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8238del (p.Lys2747fs)
|
|
|
NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter)
|
rs2136698578
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8247del (p.Lys2749fs)
|
rs2136698948
|
|
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)
|
rs1565543844
|
|
NM_000051.4(ATM):c.8249dup (p.Leu2750fs)
|
rs1565543844
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8258del (p.Cys2753fs)
|
rs2086801267
|
|
NM_000051.4(ATM):c.8264del (p.Tyr2755fs)
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)
|
rs1555128635
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8269-1G>C
|
rs1565557607
|
|
NM_000051.4(ATM):c.8269-2A>T
|
rs2136939497
|
|
NM_000051.4(ATM):c.8278del (p.Leu2760fs)
|
rs1486627670
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.8287del (p.Arg2763fs)
|
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8291GTG[1] (p.Gly2765del)
|
rs1565557806
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8301_8344dup (p.Asn2782fs)
|
|
|
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)
|
rs1555135513
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)
|
rs1060501630
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
|
|
|
NM_000051.4(ATM):c.8357del (p.Gly2786fs)
|
rs2136948126
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
NM_000051.4(ATM):c.8372dup (p.Tyr2791Ter)
|
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373del (p.Arg2790_Tyr2791insTer)
|
rs2136949935
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)
|
rs2136952289
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8413dup (p.Met2805fs)
|
rs2136953216
|
|
NM_000051.4(ATM):c.8414del (p.Met2805fs)
|
rs2087842345
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8418+704G>T
|
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8423dup (p.Gln2809fs)
|
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8431_8432delinsT (p.Lys2811fs)
|
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer)
|
rs991405942
|
|
NM_000051.4(ATM):c.8439del (p.Phe2813fs)
|
rs991405942
|
|
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
|
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
NM_000051.4(ATM):c.8451T>A (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.8461del (p.Met2821fs)
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
|
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8481del (p.Gln2828fs)
|
rs2088278756
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8495_8505del (p.Arg2832fs)
|
|
|
NM_000051.4(ATM):c.8497del (p.Tyr2833fs)
|
|
|
NM_000051.4(ATM):c.8499C>G (p.Tyr2833Ter)
|
rs2137031313
|
|
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)
|
rs2137031805
|
|
NM_000051.4(ATM):c.8516dup (p.Asp2841fs)
|
rs2137032635
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
NM_000051.4(ATM):c.8556T>A (p.Tyr2852Ter)
|
rs779394254
|
|
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.8584+16A>G
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
NM_000051.4(ATM):c.8584+2T>A
|
|
|
NM_000051.4(ATM):c.8592C>A (p.Tyr2864Ter)
|
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer)
|
rs1591273850
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs)
|
rs1565567205
|
|
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
|
|
|
NM_000051.4(ATM):c.8636dup (p.Asn2879fs)
|
rs2137082728
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8663del (p.Ile2888fs)
|
rs2137085814
|
|
NM_000051.4(ATM):c.8672del
|
rs779170307
|
|
NM_000051.4(ATM):c.8676del (p.Ala2893fs)
|
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)
|
rs2137286457
|
|
NM_000051.4(ATM):c.8690del (p.Gly2897fs)
|
rs2137286889
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8700dup (p.Pro2901fs)
|
|
|
NM_000051.4(ATM):c.8718dup (p.Pro2907fs)
|
|
|
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
|
|
|
NM_000051.4(ATM):c.8724del (p.Phe2908fs)
|
|
|
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.8737_8738del (p.Asp2913fs)
|
rs2137291785
|
|
NM_000051.4(ATM):c.8761dup (p.Thr2921fs)
|
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
NM_000051.4(ATM):c.8772del (p.Gly2925fs)
|
|
|
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs)
|
rs2089522875
|
|
NM_000051.4(ATM):c.8780del (p.Phe2927fs)
|
rs2089522517
|
|
NM_000051.4(ATM):c.8781_8786+2del
|
rs1591307438
|
|
NM_000051.4(ATM):c.8785A>T (p.Arg2929Ter)
|
rs1013290424
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8786+2T>A
|
rs1555142918
|
|
NM_000051.4(ATM):c.8786+2T>C
|
rs1555142918
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)
|
rs587779875
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8810_8813dup (p.Met2938fs)
|
rs2137348962
|
|
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs)
|
rs2089694729
|
|
NM_000051.4(ATM):c.8818_8819del (p.Asn2940fs)
|
rs2137350203
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)
|
rs1591314316
|
|
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
|
rs2089695236
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8841_8842insTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCANNNNNNNNNNNNNAAAAAAAAAA (p.Thr2947_Ile2948insPheIleSerGluGlyGluIleLysTyrPheThrAspLysGlnMetLeuArgAspPheValXaaXaaXaaXaaXaaLysLysLys)
|
|
|
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
|
rs2091198449
|
|
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs)
|
rs2091199523
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer)
|
rs2091200503
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
NM_000051.4(ATM):c.8883dup (p.Met2962fs)
|
rs2137874352
|
|
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)
|
rs1555151315
|
|
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
|
|
|
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8914C>T (p.Gln2972Ter)
|
rs2137878257
|
|
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer)
|
rs1064795675
|
|
NM_000051.4(ATM):c.8923del (p.Glu2975fs)
|
rs2137879945
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8945dup (p.Thr2983fs)
|
rs2137882907
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8973C>A (p.Cys2991Ter)
|
rs2137886925
|
|
NM_000051.4(ATM):c.8976del (p.Lys2992fs)
|
rs2137887202
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8986dup (p.Ser2996fs)
|
rs2137888813
|
|
NM_000051.4(ATM):c.8987+1G>A
|
rs786203631
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
NM_000051.4(ATM):c.8987+2T>A
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.9012del (p.Lys3004_Val3005insTer)
|
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs)
|
rs1565609008
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)
|
rs1555151827
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)
|
rs1555151854
|
|
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
|
rs2091244384
|
|
NM_000051.4(ATM):c.9061del (p.Glu3021fs)
|
rs2137914537
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9070_*53del (p.Thr3024fs)
|
rs2137915972
|
|
NM_000051.4(ATM):c.9073del (p.Val3025fs)
|
rs1555151928
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9082_9083del (p.Val3028fs)
|
|
|
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.9091del (p.Gln3031fs)
|
rs2091250180
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.9126del (p.Asn3044fs)
|
|
|
NM_000051.4(ATM):c.9127_9128insGCCGACTTTTCCCAGGATGGGA (p.Lys3043fs)
|
rs2137925596
|
|
NM_000051.4(ATM):c.9131del (p.Asn3044fs)
|
rs1591388094
|
|
NM_000051.4(ATM):c.9131dup (p.Asn3044fs)
|
rs1591388094
|
|
NM_001330368.2(C11orf65):c.641-34150del
|
rs1555135341
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|