ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 695
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HGVS dbSNP gnomAD frequency
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

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