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.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.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.6679C>T (p.Arg2227Cys)
|
rs564652222
|
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.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)
|
rs781215442
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
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.8546G>C (p.Arg2849Pro)
|
rs587782202
|
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.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
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.5773G>T (p.Gly1925Ter)
|
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)
|
rs1555110295
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.5842dup (p.Cys1948fs)
|
|
|
NM_000051.4(ATM):c.5853del (p.Phe1952fs)
|
rs1555110418
|
|
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
|
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
NM_000051.4(ATM):c.5871T>G (p.Tyr1957Ter)
|
|
|
NM_000051.4(ATM):c.5875G>T (p.Glu1959Ter)
|
|
|
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.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.5932del (p.Glu1978fs)
|
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
NM_000051.4(ATM):c.5951del (p.Thr1984fs)
|
|
|
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)
|
rs1555111808
|
|
NM_000051.4(ATM):c.5966_5979delinsCGAGTA (p.Leu1989fs)
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
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.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5982dup (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter)
|
rs1591758899
|
|
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)
|
rs2084254630
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
NM_000051.4(ATM):c.6007_6029dup
|
|
|
NM_000051.4(ATM):c.6007delG (p.Asp2003fs)
|
rs1555113505
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
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.6044_6046delinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015fs)
|
rs1565498886
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
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.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6105_6114del (p.Tyr2036fs)
|
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
NM_000051.4(ATM):c.6147del (p.Thr2048_Tyr2049insTer)
|
|
|
NM_000051.4(ATM):c.6153_6159delinsTC (p.Glu2052fs)
|
|
|
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
|
rs2084621452
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
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.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+1G>T
|
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
NM_000051.4(ATM):c.6219_6229del (p.Cys2074fs)
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6237_6238del (p.Tyr2080fs)
|
rs1555114623
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer)
|
rs2084779727
|
|
NM_000051.4(ATM):c.6258T>G (p.Tyr2086Ter)
|
rs1565502999
|
|
NM_000051.4(ATM):c.6267dup (p.Asp2090fs)
|
|
|
NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs)
|
rs1555114702
|
|
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.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
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.6335dup (p.Cys2112fs)
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6369_6372del (p.Tyr2124fs)
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6372C>A (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)
|
rs2085083193
|
|
NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)
|
rs1555116468
|
|
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.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.6433_6445del (p.Glu2145fs)
|
rs786202264
|
|
NM_000051.4(ATM):c.6436dup (p.Ser2146fs)
|
rs786202323
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6460G>T (p.Glu2154Ter)
|
|
|
NM_000051.4(ATM):c.6463del (p.Val2155fs)
|
|
|
NM_000051.4(ATM):c.6466del (p.Glu2156fs)
|
|
|
NM_000051.4(ATM):c.6478A>T (p.Lys2160Ter)
|
|
|
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)
|
rs1317619286
|
|
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.6547G>T (p.Glu2183Ter)
|
rs2085204408
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
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.6589C>T (p.Gln2197Ter)
|
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter)
|
rs1367617850
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.6621dup (p.His2208fs)
|
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
NM_000051.4(ATM):c.6650_6651del (p.Asp2216_Phe2217insTer)
|
|
|
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.6666_6669dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
NM_000051.4(ATM):c.6677_6683del (p.Leu2226fs)
|
|
|
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)
|
rs1565518539
|
|
NM_000051.4(ATM):c.6691_6692insCTTTT (p.Leu2231fs)
|
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter)
|
rs1591129305
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6725del (p.Ser2242fs)
|
rs876658394
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
NM_000051.4(ATM):c.6733G>T (p.Glu2245Ter)
|
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)
|
rs2136315218
|
|
NM_000051.4(ATM):c.6743dup (p.Asp2249fs)
|
rs2085573796
|
|
NM_000051.4(ATM):c.6748dup (p.Ile2250fs)
|
rs1555119247
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
NM_000051.4(ATM):c.6757_6758insT (p.Lys2253fs)
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
NM_000051.4(ATM):c.6796A>T (p.Lys2266Ter)
|
|
|
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)
|
rs1555119364
|
|
NM_000051.4(ATM):c.6812del (p.Pro2271fs)
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6827_6828inv (p.Phe2276Ter)
|
|
|
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>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs)
|
rs2085653871
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
NM_000051.4(ATM):c.6888del (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
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.6937A>T (p.Lys2313Ter)
|
rs2136338211
|
|
NM_000051.4(ATM):c.6947dup (p.Lys2317fs)
|
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6996del (p.Thr2333fs)
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7002del (p.Thr2333_Tyr2334insTer)
|
|
|
NM_000051.4(ATM):c.7004_7005del (p.Thr2335fs)
|
|
|
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.7011T>A (p.Cys2337Ter)
|
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7021del (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7022delinsTT (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7026dup (p.Asn2343fs)
|
rs1555121020
|
|
NM_000051.4(ATM):c.7028del (p.Asn2343fs)
|
rs1591142530
|
|
NM_000051.4(ATM):c.7035_7036del (p.Leu2345fs)
|
|
|
NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer)
|
rs1555121066
|
|
NM_000051.4(ATM):c.7047C>A (p.Cys2349Ter)
|
|
|
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.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7154del (p.Lys2385fs)
|
|
|
NM_000051.4(ATM):c.7181_7189delinsGTAT (p.Ser2394fs)
|
|
|
NM_000051.4(ATM):c.7185_7186del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)
|
rs747372355
|
|
NM_000051.4(ATM):c.7201del (p.Ile2401fs)
|
|
|
NM_000051.4(ATM):c.7212C>A (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7212C>G (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7216_7217insTA (p.Lys2406fs)
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
NM_000051.4(ATM):c.7254_7255del (p.Arg2419fs)
|
|
|
NM_000051.4(ATM):c.7262_7263del (p.Lys2421fs)
|
rs1131691157
|
|
NM_000051.4(ATM):c.7277del (p.Leu2426fs)
|
|
|
NM_000051.4(ATM):c.7282_7283insAA (p.Arg2428fs)
|
rs2136422828
|
|
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)
|
rs1060501525
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
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.7311C>G (p.Tyr2437Ter)
|
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7312del (p.Thr2438fs)
|
|
|
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7333del (p.Leu2445fs)
|
rs1591159924
|
|
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7359del (p.Ala2454fs)
|
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter)
|
rs1591160295
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
NM_000051.4(ATM):c.7395_7411del (p.Lys2465fs)
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
NM_000051.4(ATM):c.7410T>A (p.Tyr2470Ter)
|
|
|
NM_000051.4(ATM):c.7450del (p.Val2484fs)
|
|
|
NM_000051.4(ATM):c.7452dup (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7455_7462del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
NM_000051.4(ATM):c.7491_7492dup (p.Ser2498fs)
|
|
|
NM_000051.4(ATM):c.7492del (p.Ser2498fs)
|
rs1591161470
|
|
NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)
|
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
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>A (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7557del (p.Met2520fs)
|
|
|
NM_000051.4(ATM):c.7557dup (p.Met2520fs)
|
rs2136493530
|
|
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs)
|
rs1555124089
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7646C>A (p.Ser2549Ter)
|
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7675_7676del (p.Ile2559fs)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
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.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
NM_000051.4(ATM):c.7729del (p.Glu2576_Val2577insTer)
|
rs2086303574
|
|
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter)
|
rs750224234
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
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.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
NM_000051.4(ATM):c.7810del (p.Arg2604fs)
|
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
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.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter)
|
rs1591179199
|
|
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.7943del (p.Pro2648fs)
|
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7957_7960dup (p.Thr2654fs)
|
|
|
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
|
|
|
NM_000051.4(ATM):c.7978G>T (p.Glu2660Ter)
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8000dup (p.Met2667fs)
|
|
|
NM_000051.4(ATM):c.8008A>T (p.Lys2670Ter)
|
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8026G>T (p.Glu2676Ter)
|
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
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.8081del (p.Gly2694fs)
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8123del (p.Asp2708fs)
|
|
|
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.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
NM_000051.4(ATM):c.8178del (p.Val2727fs)
|
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8202dup (p.Cys2735fs)
|
rs2136695766
|
|
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.8218C>T (p.Gln2740Ter)
|
rs866402530
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)
|
rs1565543844
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
|
|
|
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.8267del (p.Lys2756fs)
|
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
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.8288del (p.Arg2763fs)
|
rs886039630
|
|
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.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.8328_8329del (p.Ile2776fs)
|
rs1555135633
|
|
NM_000051.4(ATM):c.8350G>T (p.Glu2784Ter)
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
NM_000051.4(ATM):c.8368del (p.Arg2790fs)
|
rs2136948975
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
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.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8378del (p.Pro2793fs)
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
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.8408del (p.Lys2803fs)
|
rs1591249359
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5G>T
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
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.8438_8439insCT (p.Glu2814fs)
|
rs1591264194
|
|
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.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
NM_000051.4(ATM):c.8514dup (p.Phe2839fs)
|
rs876659010
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
NM_000051.4(ATM):c.8533del (p.Trp2845fs)
|
rs1591265186
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
NM_000051.4(ATM):c.8603_8604insA (p.Gly2869fs)
|
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
|
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
NM_000051.4(ATM):c.8626_8627dup (p.Leu2877fs)
|
|
|
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
|
|
|
NM_000051.4(ATM):c.8636del (p.Asn2879fs)
|
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
NM_000051.4(ATM):c.8645C>G (p.Ser2882Ter)
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8672del
|
rs779170307
|
|
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.8687_8688del (p.Gln2896fs)
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8714dup (p.Val2906fs)
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
NM_000051.4(ATM):c.8734del (p.Arg2912fs)
|
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8787-1G>A
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.8794G>T (p.Glu2932Ter)
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
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.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8852dup (p.Leu2952fs)
|
|
|
NM_000051.4(ATM):c.8863del (p.Asp2955fs)
|
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
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.8904_8905del (p.Tyr2969fs)
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
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.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
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.8991_8992insG (p.Ile2998fs)
|
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.9014dup (p.Ala3006fs)
|
rs1591386748
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9057del (p.Val3020fs)
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
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.9091del (p.Gln3031fs)
|
rs2091250180
|
|
NM_001330368.2(C11orf65):c.641-34150del
|
rs1555135341
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|