ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1443
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HGVS dbSNP
GRCh37/hg19 11q22.3(chr11:108206156-108276555)x1
NC_000011.9:g.(?_108098342)_(108236245_?)dup
NC_000011.9:g.(?_108098346)_(108236241_?)dup
NC_000011.9:g.(?_108115509)_(108236241_?)dup
NC_000011.9:g.(?_108126936)_(108236241_?)dup
NC_000011.9:g.(?_108137888)_(108236245_?)dup
NC_000011.9:g.(?_108172365)_(108236245_?)dup
NC_000011.9:g.(?_108198469)_(108225601_?)dup
NC_000011.9:g.(?_108205690)_(108236241_?)dup
NC_000011.9:g.(?_108206566)_(108236241_?)dup
NM_000051.3(ATM):c.*1272C>G rs376572054
NM_000051.3(ATM):c.*1571C>T rs886047621
NM_000051.3(ATM):c.*1640C>T rs886047622
NM_000051.3(ATM):c.*1670G>A rs886047623
NM_000051.3(ATM):c.*16T>G rs1362987304
NM_000051.3(ATM):c.*17T>G rs746451875
NM_000051.3(ATM):c.*1960delT rs886047624
NM_000051.3(ATM):c.*19C>T rs1338371572
NM_000051.3(ATM):c.*2080C>T rs142456486
NM_000051.3(ATM):c.*2224C>T rs139245552
NM_000051.3(ATM):c.*222C>T rs760852487
NM_000051.3(ATM):c.*236C>T rs3092834
NM_000051.3(ATM):c.*2479G>A rs778439888
NM_000051.3(ATM):c.*2541_*2543delACA rs886047625
NM_000051.3(ATM):c.*2563C>T rs146547907
NM_000051.3(ATM):c.*2607T>C rs879796523
NM_000051.3(ATM):c.*2714dupT rs532373195
NM_000051.3(ATM):c.*2779delT rs886047627
NM_000051.3(ATM):c.*2865G>A rs568150944
NM_000051.3(ATM):c.*2866T>C rs191399133
NM_000051.3(ATM):c.*2935C>G rs886047628
NM_000051.3(ATM):c.*2957G>C rs770767475
NM_000051.3(ATM):c.*29C>G rs3218711
NM_000051.3(ATM):c.*3022C>G rs145076930
NM_000051.3(ATM):c.*3091G>A rs886047629
NM_000051.3(ATM):c.*3136A>G rs3092845
NM_000051.3(ATM):c.*3198T>G rs764033869
NM_000051.3(ATM):c.*3325A>G rs886047630
NM_000051.3(ATM):c.*3354T>G rs886047631
NM_000051.3(ATM):c.*44A>G rs55900855
NM_000051.3(ATM):c.*521delC rs886047615
NM_000051.3(ATM):c.*540dupA rs369583811
NM_000051.3(ATM):c.*541_*542delCA rs886047618
NM_000051.3(ATM):c.*541delC rs886047619
NM_000051.3(ATM):c.*551T>C rs143531724
NM_000051.3(ATM):c.*684T>G rs3092837
NM_000051.3(ATM):c.*895dupT rs200629108
NM_000051.3(ATM):c.*9del rs1565609967
NM_000051.3(ATM):c.5763-5T>C rs1555110219
NM_000051.3(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.3(ATM):c.5764C>T (p.Pro1922Ser) rs587781865
NM_000051.3(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.3(ATM):c.5766_5768TTC[1] (p.Ser1924del) rs866749094
NM_000051.3(ATM):c.5771C>T (p.Ser1924Leu) rs876658831
NM_000051.3(ATM):c.5774G>A (p.Gly1925Glu) rs755055090
NM_000051.3(ATM):c.5776A>G (p.Thr1926Ala) rs781448339
NM_000051.3(ATM):c.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.3(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.3(ATM):c.5784T>A (p.Phe1928Leu) rs1290871799
NM_000051.3(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.3(ATM):c.5803G>A (p.Asp1935Asn)
NM_000051.3(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.3(ATM):c.5812T>A (p.Tyr1938Asn) rs786203668
NM_000051.3(ATM):c.5816T>A (p.Leu1939Gln) rs1555110340
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5821G>T (p.Val1941Phe)
NM_000051.3(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.3(ATM):c.5824G>T (p.Ala1942Ser) rs1286443989
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5828A>G (p.Lys1943Arg) rs746676271
NM_000051.3(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.3(ATM):c.5838G>T (p.Gln1946His) rs1060501612
NM_000051.3(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.3(ATM):c.5845G>T (p.Ala1949Ser) rs1555110401
NM_000051.3(ATM):c.5851C>G (p.His1951Asp) rs1060501673
NM_000051.3(ATM):c.5851C>T (p.His1951Tyr)
NM_000051.3(ATM):c.5852A>C (p.His1951Pro) rs1164569755
NM_000051.3(ATM):c.5854T>A (p.Phe1952Ile) rs1555110421
NM_000051.3(ATM):c.5858C>G (p.Thr1953Arg)
NM_000051.3(ATM):c.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.3(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.3(ATM):c.5867T>A (p.Leu1956His) rs876658989
NM_000051.3(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
NM_000051.3(ATM):c.5879T>A (p.Ile1960Asn) rs587782503
NM_000051.3(ATM):c.5880C>G (p.Ile1960Met) rs1555110464
NM_000051.3(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.3(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.3(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5891A>G (p.Lys1964Arg) rs1555110503
NM_000051.3(ATM):c.5892G>C (p.Lys1964Asn) rs786202728
NM_000051.3(ATM):c.5895A>T (p.Lys1965Asn) rs1565490147
NM_000051.3(ATM):c.5897G>A (p.Ser1966Asn) rs1555110520
NM_000051.3(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.3(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.3(ATM):c.5912A>T (p.Glu1971Val) rs1565490253
NM_000051.3(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652
NM_000051.3(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.3(ATM):c.5917A>G (p.Arg1973Gly) rs786202089
NM_000051.3(ATM):c.5918+3A>G rs1555110595
NM_000051.3(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.3(ATM):c.5919-10T>C rs1565493312
NM_000051.3(ATM):c.5927C>T (p.Ala1976Val) rs1197973623
NM_000051.3(ATM):c.5930T>C (p.Phe1977Ser) rs780867575
NM_000051.3(ATM):c.5934A>C (p.Glu1978Asp) rs945198632
NM_000051.3(ATM):c.5938G>A (p.Gly1980Arg) rs786203765
NM_000051.3(ATM):c.5945A>G (p.Gln1982Arg) rs543980602
NM_000051.3(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.3(ATM):c.5951C>G (p.Thr1984Arg) rs770722380
NM_000051.3(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.3(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.3(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.3(ATM):c.5964C>G (p.Ser1988Arg) rs774260725
NM_000051.3(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.3(ATM):c.5971G>A (p.Glu1991Lys) rs786203404
NM_000051.3(ATM):c.5972A>G (p.Glu1991Gly)
NM_000051.3(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.5975A>G (p.Lys1992Arg) rs150757822
NM_000051.3(ATM):c.5977A>C (p.Ser1993Arg)
NM_000051.3(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.3(ATM):c.5983_5985GAA[1] (p.Glu1996del) rs1555111872
NM_000051.3(ATM):c.5993G>T (p.Gly1998Val) rs1188125296
NM_000051.3(ATM):c.5994A>T (p.Gly1998=) rs56046250
NM_000051.3(ATM):c.5995A>G (p.Ile1999Val) rs1201228506
NM_000051.3(ATM):c.5999G>A (p.Ser2000Asn) rs775921052
NM_000051.3(ATM):c.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.3(ATM):c.6006+4_6006+5delAA rs879254108
NM_000051.3(ATM):c.6006+6T>C rs1565493858
NM_000051.3(ATM):c.6006G>C (p.Gln2002His)
NM_000051.3(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.3(ATM):c.6009T>G (p.Asp2003Glu) rs878853526
NM_000051.3(ATM):c.6010C>A (p.Leu2004Ile) rs1060501561
NM_000051.3(ATM):c.6010C>T (p.Leu2004Phe) rs1060501561
NM_000051.3(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.3(ATM):c.6016T>G (p.Leu2006Val) rs1555113531
NM_000051.3(ATM):c.6020A>C (p.Glu2007Ala) rs762001297
NM_000051.3(ATM):c.6021A>T (p.Glu2007Asp) rs1555113549
NM_000051.3(ATM):c.6023T>C (p.Ile2008Thr) rs876660227
NM_000051.3(ATM):c.6025T>C (p.Tyr2009His) rs199586999
NM_000051.3(ATM):c.6036A>G (p.Ile2012Met)
NM_000051.3(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.3(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.3(ATM):c.6050_6057delinsTA (p.Ser2017_Tyr2019delinsIle) rs1565498913
NM_000051.3(ATM):c.6053T>C (p.Leu2018Ser) rs755694394
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6061T>C (p.Cys2021Arg)
NM_000051.3(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915
NM_000051.3(ATM):c.6070G>A (p.Gly2024Arg) rs1565499041
NM_000051.3(ATM):c.6071G>A (p.Gly2024Glu) rs1060501564
NM_000051.3(ATM):c.6078G>A (p.Met2026Ile) rs369349023
NM_000051.3(ATM):c.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.3(ATM):c.6082C>G (p.Gln2028Glu)
NM_000051.3(ATM):c.6086C>T (p.Pro2029Leu) rs863224575
NM_000051.3(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.3(ATM):c.6095+4A>C
NM_000051.3(ATM):c.6095+4A>G rs1555113632
NM_000051.3(ATM):c.6095+5A>G rs757328753
NM_000051.3(ATM):c.6095+5delA rs1555113628
NM_000051.3(ATM):c.6095+6T>A rs1057522992
NM_000051.3(ATM):c.6095+6T>C rs1057522992
NM_000051.3(ATM):c.6095+8G>T rs547072690
NM_000051.3(ATM):c.6096-3T>C rs748380897
NM_000051.3(ATM):c.6096-9_6096-5delTTCTT rs879254095
NM_000051.3(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
NM_000051.3(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.3(ATM):c.6101G>A (p.Arg2034Gln) rs3218670
NM_000051.3(ATM):c.6103A>G (p.Thr2035Ala) rs876659555
NM_000051.3(ATM):c.6105A>G (p.Thr2035=) rs1555113708
NM_000051.3(ATM):c.6106T>G (p.Tyr2036Asp)
NM_000051.3(ATM):c.6107A>G (p.Tyr2036Cys) rs786204141
NM_000051.3(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000051.3(ATM):c.6114C>A (p.His2038Gln) rs774993357
NM_000051.3(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.3(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.3(ATM):c.6118G>C (p.Ala2040Pro) rs863224576
NM_000051.3(ATM):c.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.3(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.3(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.3(ATM):c.6121A>G (p.Met2041Val) rs759753186
NM_000051.3(ATM):c.6122T>C (p.Met2041Thr) rs1000032847
NM_000051.3(ATM):c.6123G>T (p.Met2041Ile) rs1555113740
NM_000051.3(ATM):c.6124T>C (p.Trp2042Arg)
NM_000051.3(ATM):c.6125G>T (p.Trp2042Leu) rs1565499657
NM_000051.3(ATM):c.6127G>A (p.Gly2043Ser) rs767939328
NM_000051.3(ATM):c.6127_6136delinsT (p.Gly2043_Ala2045del) rs1064792941
NM_000051.3(ATM):c.6128G>T (p.Gly2043Val)
NM_000051.3(ATM):c.6134C>A (p.Ala2045Asp) rs879254147
NM_000051.3(ATM):c.6136C>G (p.Leu2046Val)
NM_000051.3(ATM):c.6139_6141dup (p.Val2047dup)
NM_000051.3(ATM):c.6140T>G (p.Val2047Gly) rs878853528
NM_000051.3(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.3(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.3(ATM):c.6146A>G (p.Tyr2049Cys)
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6160G>T (p.Ala2054Ser) rs587779853
NM_000051.3(ATM):c.6163A>G (p.Ile2055Val) rs758038580
NM_000051.3(ATM):c.6163_6165del (p.Ile2055del) rs1565499855
NM_000051.3(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.3(ATM):c.6169_6171TCA[1] (p.Ser2058del) rs1555113809
NM_000051.3(ATM):c.6173C>T (p.Ser2058Leu) rs1555113821
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.3(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.3(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.3(ATM):c.6179G>C (p.Arg2060Pro) rs376521407
NM_000051.3(ATM):c.6179G>T (p.Arg2060Leu) rs376521407
NM_000051.3(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.3(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.3(ATM):c.6188G>C (p.Gly2063Ala) rs866290641
NM_000051.3(ATM):c.6191T>C (p.Ile2064Thr) rs1555113854
NM_000051.3(ATM):c.6194T>C (p.Ile2065Thr) rs372838622
NM_000051.3(ATM):c.6196C>G (p.Gln2066Glu) rs1361215494
NM_000051.3(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.3(ATM):c.6198+11T>C rs774664615
NM_000051.3(ATM):c.6198+3A>G rs786202092
NM_000051.3(ATM):c.6198+4C>T rs749370650
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6198G>A (p.Gln2066=) rs786203341
NM_000051.3(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.3(ATM):c.6199-3T>C rs1318760213
NM_000051.3(ATM):c.6199-3delT rs762251357
NM_000051.3(ATM):c.6199-5T>A rs1555114533
NM_000051.3(ATM):c.6199-7T>A rs1060501631
NM_000051.3(ATM):c.6199-9C>A rs1060501611
NM_000051.3(ATM):c.6199G>A (p.Ala2067Thr) rs1555114549
NM_000051.3(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.3(ATM):c.6205C>G (p.Gln2069Glu) rs1555114563
NM_000051.3(ATM):c.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.3(ATM):c.6215G>C (p.Gly2072Ala) rs1183544857
NM_000051.3(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.3(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.3(ATM):c.6218T>C (p.Leu2073Pro) rs1555114582
NM_000051.3(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.3(ATM):c.6226A>G (p.Ile2076Val) rs755973863
NM_000051.3(ATM):c.6229C>G (p.Leu2077Val)
NM_000051.3(ATM):c.6232T>C (p.Ser2078Pro) rs587779854
NM_000051.3(ATM):c.6233C>T (p.Ser2078Phe) rs786204173
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6235_6236insAAG (p.Val2079_Tyr2080insGlu)
NM_000051.3(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.3(ATM):c.6244A>G (p.Lys2082Glu) rs1239942908
NM_000051.3(ATM):c.6246A>G (p.Lys2082=) rs745977589
NM_000051.3(ATM):c.6246A>T (p.Lys2082Asn)
NM_000051.3(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586
NM_000051.3(ATM):c.6248G>A (p.Gly2083Glu) rs1060501559
NM_000051.3(ATM):c.6253G>C (p.Asp2085His)
NM_000051.3(ATM):c.6253G>T (p.Asp2085Tyr) rs730881379
NM_000051.3(ATM):c.6255T>A (p.Asp2085Glu) rs376898203
NM_000051.3(ATM):c.6256_6261del (p.Tyr2086_Glu2087del) rs1555114670
NM_000051.3(ATM):c.6257A>G (p.Tyr2086Cys) rs730881380
NM_000051.3(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380
NM_000051.3(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.3(ATM):c.6262A>G (p.Asn2088Asp) rs1205444700
NM_000051.3(ATM):c.6267A>C (p.Lys2089Asn) rs863224577
NM_000051.3(ATM):c.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.3(ATM):c.6269A>C (p.Asp2090Ala) rs1555114696
NM_000051.3(ATM):c.6270C>A (p.Asp2090Glu) rs1565503097
NM_000051.3(ATM):c.6274T>G (p.Cys2092Gly) rs1555114711
NM_000051.3(ATM):c.6277C>T (p.Pro2093Ser) rs946942912
NM_000051.3(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.3(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.3(ATM):c.6291A>T (p.Glu2097Asp) rs1555114739
NM_000051.3(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.3(ATM):c.6293T>G (p.Leu2098Arg)
NM_000051.3(ATM):c.6296A>G (p.His2099Arg) rs587782802
NM_000051.3(ATM):c.6298T>C (p.Tyr2100His) rs1555114752
NM_000051.3(ATM):c.6301C>G (p.Gln2101Glu) rs876660164
NM_000051.3(ATM):c.6302A>C (p.Gln2101Pro) rs1565503316
NM_000051.3(ATM):c.6304G>A (p.Ala2102Thr) rs1565503340
NM_000051.3(ATM):c.6304G>C (p.Ala2102Pro) rs1565503340
NM_000051.3(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.3(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
NM_000051.3(ATM):c.6313A>T (p.Arg2105Trp) rs879253983
NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.3(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.3(ATM):c.6323A>C (p.Gln2108Pro)
NM_000051.3(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.3(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.3(ATM):c.6330C>G (p.Asp2110Glu) rs759029705
NM_000051.3(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.3(ATM):c.6332A>G (p.His2111Arg) rs876658300
NM_000051.3(ATM):c.6333T>C (p.His2111=) rs55756349
NM_000051.3(ATM):c.6335G>T (p.Cys2112Phe)
NM_000051.3(ATM):c.6337A>G (p.Thr2113Ala) rs1555114835
NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.3(ATM):c.6341C>A (p.Ser2114Tyr)
NM_000051.3(ATM):c.6343G>A (p.Val2115Ile) rs587780634
NM_000051.3(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.3(ATM):c.6347+3A>G rs1555114854
NM_000051.3(ATM):c.6347+4A>G rs1342227995
NM_000051.3(ATM):c.6347+6A>C rs750501197
NM_000051.3(ATM):c.6348-3C>T rs946541820
NM_000051.3(ATM):c.6348-9A>T
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6360A>T (p.Glu2120Asp) rs1565508657
NM_000051.3(ATM):c.6365C>G (p.Thr2122Ser) rs1555116369
NM_000051.3(ATM):c.6367A>G (p.Ser2123Gly) rs876659773
NM_000051.3(ATM):c.6368G>C (p.Ser2123Thr)
NM_000051.3(ATM):c.6368G>T (p.Ser2123Ile) rs1064794104
NM_000051.3(ATM):c.6373C>T (p.His2125Tyr) rs1201879809
NM_000051.3(ATM):c.6374A>G (p.His2125Arg) rs730881381
NM_000051.3(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.3(ATM):c.6376G>A (p.Glu2126Lys) rs1555116399
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.3(ATM):c.6384G>C (p.Leu2128Phe) rs1060501629
NM_000051.3(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.3(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6399A>G (p.Gln2133=) rs750614487
NM_000051.3(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
NM_000051.3(ATM):c.6404T>C (p.Leu2135Pro)
NM_000051.3(ATM):c.6409G>A (p.Asp2137Asn) rs1389038955
NM_000051.3(ATM):c.6411C>G (p.Asp2137Glu) rs780299607
NM_000051.3(ATM):c.6412A>G (p.Arg2138Gly) rs752069869
NM_000051.3(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.3(ATM):c.6419T>G (p.Phe2140Cys) rs1297621371
NM_000051.3(ATM):c.6420C>A (p.Phe2140Leu) rs587780635
NM_000051.3(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.3(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.3(ATM):c.6434A>C (p.Glu2145Ala) rs1255710647
NM_000051.3(ATM):c.6438T>A (p.Ser2146Arg) rs748544160
NM_000051.3(ATM):c.6443A>C (p.Lys2148Thr)
NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) rs730881382
NM_000051.3(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.3(ATM):c.6447T>C (p.Tyr2149=) rs1057519167
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6452+6A>G rs878853531
NM_000051.3(ATM):c.6452+6A>T rs878853531
NM_000051.3(ATM):c.6453-14T>A rs1380071831
NM_000051.3(ATM):c.6457A>C (p.Lys2153Gln) rs1386239935
NM_000051.3(ATM):c.6464T>C (p.Val2155Ala) rs1060501532
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6466G>A (p.Glu2156Lys) rs1328099740
NM_000051.3(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.3(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.3(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
NM_000051.3(ATM):c.6475T>G (p.Cys2159Gly) rs150408832
NM_000051.3(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.3(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.3(ATM):c.6482G>A (p.Arg2161His) rs756626462
NM_000051.3(ATM):c.6486C>A (p.Ser2162Arg)
NM_000051.3(ATM):c.6486C>G (p.Ser2162Arg)
NM_000051.3(ATM):c.6486C>T (p.Ser2162=) rs138166710
NM_000051.3(ATM):c.6487C>G (p.Leu2163Val)
NM_000051.3(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.3(ATM):c.6490G>C (p.Glu2164Gln) rs1317619286
NM_000051.3(ATM):c.6491A>T (p.Glu2164Val)
NM_000051.3(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.3(ATM):c.6497T>C (p.Val2166Ala) rs1232551114
NM_000051.3(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385
NM_000051.3(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.3(ATM):c.6505C>G (p.Leu2169Val) rs1064794157
NM_000051.3(ATM):c.6505C>T (p.Leu2169Phe) rs1064794157
NM_000051.3(ATM):c.6505_6519del (p.Leu2169_Leu2173del) rs1555117162
NM_000051.3(ATM):c.6506T>C (p.Leu2169Pro)
NM_000051.3(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.3(ATM):c.6508T>C (p.Tyr2170His) rs587782327
NM_000051.3(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.3(ATM):c.6517C>G (p.Leu2173Val) rs1565511354
NM_000051.3(ATM):c.6521G>A (p.Ser2174Asn) rs1470293148
NM_000051.3(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.3(ATM):c.6522C>T (p.Ser2174=)
NM_000051.3(ATM):c.6524G>T (p.Arg2175Met) rs1555117188
NM_000051.3(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.3(ATM):c.6530A>C (p.Gln2177Pro) rs1060501573
NM_000051.3(ATM):c.6536T>C (p.Ile2179Thr) rs878853532
NM_000051.3(ATM):c.6537T>G (p.Ile2179Met) rs146243469
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6545T>C (p.Leu2182Pro) rs1555117233
NM_000051.3(ATM):c.6550A>G (p.Ser2184Gly) rs764713766
NM_000051.3(ATM):c.6551G>C (p.Ser2184Thr) rs374551964
NM_000051.3(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.3(ATM):c.6554T>C (p.Ile2185Thr) rs779611511
NM_000051.3(ATM):c.6554T>G (p.Ile2185Ser)
NM_000051.3(ATM):c.6557_6559del (p.Gly2186del) rs1555117257
NM_000051.3(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.3(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.6572G>C (p.Arg2191Thr) rs1196814221
NM_000051.3(ATM):c.6573-11G>A rs375599653
NM_000051.3(ATM):c.6573A>G (p.Arg2191=) rs1565518004
NM_000051.3(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.3(ATM):c.6581C>T (p.Thr2194Ile) rs1476384636
NM_000051.3(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.3(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.3(ATM):c.6596C>A (p.Ser2199Tyr)
NM_000051.3(ATM):c.6602T>C (p.Val2201Ala) rs876658435
NM_000051.3(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311
NM_000051.3(ATM):c.6613T>C (p.Trp2205Arg) rs755656958
NM_000051.3(ATM):c.6615G>T (p.Trp2205Cys) rs1555119041
NM_000051.3(ATM):c.6620A>G (p.Lys2207Arg) rs1565518213
NM_000051.3(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.3(ATM):c.6629A>C (p.Gln2210Pro) rs1252127806
NM_000051.3(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.3(ATM):c.6633_6634delinsAA (p.Leu2212Ile) rs1555119055
NM_000051.3(ATM):c.6643A>G (p.Ser2215Gly) rs730881312
NM_000051.3(ATM):c.6644G>C (p.Ser2215Thr)
NM_000051.3(ATM):c.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.3(ATM):c.6650T>A (p.Phe2217Tyr) rs876659101
NM_000051.3(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer) rs1555119092
NM_000051.3(ATM):c.6652A>C (p.Ser2218Arg) rs749261367
NM_000051.3(ATM):c.6661G>A (p.Glu2221Lys)
NM_000051.3(ATM):c.6665C>A (p.Pro2222His) rs997021874
NM_000051.3(ATM):c.6667A>G (p.Ile2223Val)
NM_000051.3(ATM):c.6670A>C (p.Met2224Leu)
NM_000051.3(ATM):c.6670A>G (p.Met2224Val) rs545873723
NM_000051.3(ATM):c.6671T>C (p.Met2224Thr) rs730881313
NM_000051.3(ATM):c.6673G>A (p.Ala2225Thr) rs1555119121
NM_000051.3(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.3(ATM):c.6679C>A (p.Arg2227Ser) rs564652222
NM_000051.3(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.3(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.3(ATM):c.6686T>G (p.Val2229Gly) rs1555119144
NM_000051.3(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.3(ATM):c.6697A>C (p.Ile2233Leu)
NM_000051.3(ATM):c.6700C>T (p.Leu2234=) rs760602228
NM_000051.3(ATM):c.6701T>A (p.Leu2234Gln) rs1158183992
NM_000051.3(ATM):c.6703A>G (p.Met2235Val) rs768791795
NM_000051.3(ATM):c.6710A>C (p.Lys2237Thr) rs35118109
NM_000051.3(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.3(ATM):c.6722A>C (p.Asn2241Thr)
NM_000051.3(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.3(ATM):c.6724T>C (p.Ser2242Pro) rs1309164461
NM_000051.3(ATM):c.6727C>A (p.Gln2243Lys) rs1565518711
NM_000051.3(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.3(ATM):c.6734A>G (p.Glu2245Gly) rs1555119214
NM_000051.3(ATM):c.6739A>C (p.Ile2247Leu) rs587781521
NM_000051.3(ATM):c.6739A>G (p.Ile2247Val) rs587781521
NM_000051.3(ATM):c.6741T>G (p.Ile2247Met) rs876658607
NM_000051.3(ATM):c.6742A>G (p.Lys2248Glu) rs1555119232
NM_000051.3(ATM):c.6743A>C (p.Lys2248Thr)
NM_000051.3(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.3(ATM):c.6746A>T (p.Asp2249Val)
NM_000051.3(ATM):c.6755C>A (p.Thr2252Asn) rs755531586
NM_000051.3(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.3(ATM):c.6757A>C (p.Lys2253Gln) rs863224578
NM_000051.3(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.3(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602
NM_000051.3(ATM):c.6761A>C (p.His2254Pro) rs1565518950
NM_000051.3(ATM):c.6764T>G (p.Leu2255Arg) rs876658966
NM_000051.3(ATM):c.6766G>A (p.Val2256Ile) rs1565519006
NM_000051.3(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.3(ATM):c.6778A>G (p.Ile2260Val) rs1365474284
NM_000051.3(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.3(ATM):c.6784G>C (p.Ala2262Pro) rs587781674
NM_000051.3(ATM):c.6785C>A (p.Ala2262Asp) rs876660017
NM_000051.3(ATM):c.6785C>G (p.Ala2262Gly) rs876660017
NM_000051.3(ATM):c.6786_6791del (p.Arg2263_Thr2264del) rs1565519112
NM_000051.3(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.3(ATM):c.6795C>A (p.Phe2265Leu) rs3218699
NM_000051.3(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6797A>G (p.Lys2266Arg)
NM_000051.3(ATM):c.6807+4A>G rs1555119382
NM_000051.3(ATM):c.6807G>A (p.Gln2269=) rs587780638
NM_000051.3(ATM):c.6814G>A (p.Glu2272Lys) rs886039471
NM_000051.3(ATM):c.6815A>C (p.Glu2272Ala)
NM_000051.3(ATM):c.6815A>G (p.Glu2272Gly) rs1565520129
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
NM_000051.3(ATM):c.6823A>C (p.Ile2275Leu) rs587779857
NM_000051.3(ATM):c.6823A>G (p.Ile2275Val) rs587779857
NM_000051.3(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.3(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.3(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835
NM_000051.3(ATM):c.6831A>T (p.Gln2277His) rs1339794219
NM_000051.3(ATM):c.6835A>G (p.Lys2279Glu) rs756898113
NM_000051.3(ATM):c.6839A>G (p.Gln2280Arg) rs1555119779
NM_000051.3(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.3(ATM):c.6844A>G (p.Asn2282Asp) rs951881516
NM_000051.3(ATM):c.6845A>G (p.Asn2282Ser) rs863224579
NM_000051.3(ATM):c.6848C>T (p.Ser2283Leu) rs876660730
NM_000051.3(ATM):c.6857G>A (p.Cys2286Tyr) rs786203052
NM_000051.3(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.3(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6863T>A (p.Val2288Asp)
NM_000051.3(ATM):c.6866C>T (p.Ser2289Phe) rs1555119833
NM_000051.3(ATM):c.6868G>A (p.Glu2290Lys) rs1479339581
NM_000051.3(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.3(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.3(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6889C>G (p.Gln2297Glu) rs1565520537
NM_000051.3(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.3(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.3(ATM):c.6893T>C (p.Val2298Ala) rs1565520607
NM_000051.3(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.3(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.6900G>C (p.Trp2300Cys)
NM_000051.3(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.3(ATM):c.6901G>C (p.Ala2301Pro) rs1060501668
NM_000051.3(ATM):c.6905A>G (p.Lys2302Arg) rs1297586575
NM_000051.3(ATM):c.6908A>C (p.Lys2303Thr) rs1064795166
NM_000051.3(ATM):c.6908A>T (p.Lys2303Met) rs1064795166
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6922G>T (p.Ala2308Ser)
NM_000051.3(ATM):c.6923C>T (p.Ala2308Val) rs876658454
NM_000051.3(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767
NM_000051.3(ATM):c.6931A>G (p.Ile2311Val)
NM_000051.3(ATM):c.6935T>C (p.Leu2312Pro)
NM_000051.3(ATM):c.6942A>C (p.Gln2314His) rs764859160
NM_000051.3(ATM):c.6944T>C (p.Met2315Thr) rs1555120006
NM_000051.3(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.3(ATM):c.6950A>C (p.Lys2317Thr) rs750285816
NM_000051.3(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.3(ATM):c.6952A>G (p.Lys2318Glu) rs1449259481
NM_000051.3(ATM):c.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.3(ATM):c.6956T>G (p.Leu2319Trp) rs1555120049
NM_000051.3(ATM):c.6958G>T (p.Asp2320Tyr) rs1565521026
NM_000051.3(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.3(ATM):c.6961G>C (p.Ala2321Pro) rs1060501538
NM_000051.3(ATM):c.6965G>T (p.Ser2322Ile) rs876659183
NM_000051.3(ATM):c.6966C>T (p.Ser2322=) rs864622593
NM_000051.3(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.3(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.3(ATM):c.6974C>T (p.Ala2325Val) rs200940211
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6975+4T>A rs876660240
NM_000051.3(ATM):c.6975+4T>G
NM_000051.3(ATM):c.6975+5G>T rs575354684
NM_000051.3(ATM):c.6975+5_6975+6delGT rs1064794094
NM_000051.3(ATM):c.6975+5_6975+8delGTTT rs1565521135
NM_000051.3(ATM):c.6975+5_6975+9del5 rs1555120086
NM_000051.3(ATM):c.6975+5delG rs1442949382
NM_000051.3(ATM):c.6975+6T>C rs1169579742
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6975G>T (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6976-11T>C rs1565523441
NM_000051.3(ATM):c.6976-3_6976-2insT rs1060501533
NM_000051.3(ATM):c.6980A>T (p.Asn2327Ile) rs761587154
NM_000051.3(ATM):c.6982C>A (p.Pro2328Thr) rs769606850
NM_000051.3(ATM):c.6982C>G (p.Pro2328Ala)
NM_000051.3(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.6994C>T (p.Leu2332Phe) rs762427092
NM_000051.3(ATM):c.6995T>G (p.Leu2332Arg) rs4988111
NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.3(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.3(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.3(ATM):c.7001A>G (p.Tyr2334Cys) rs879254258
NM_000051.3(ATM):c.7003A>C (p.Thr2335Pro) rs1555120970
NM_000051.3(ATM):c.7004C>T (p.Thr2335Ile) rs3092831
NM_000051.3(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.3(ATM):c.7011T>G (p.Cys2337Trp) rs878853536
NM_000051.3(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.3(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302
NM_000051.3(ATM):c.7018G>A (p.Val2340Ile) rs876659429
NM_000051.3(ATM):c.7018G>T (p.Val2340Phe) rs876659429
NM_000051.3(ATM):c.7024G>A (p.Gly2342Ser) rs1555121015
NM_000051.3(ATM):c.7028A>G (p.Asn2343Ser) rs876658507
NM_000051.3(ATM):c.7033T>G (p.Leu2345Val) rs1555121048
NM_000051.3(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.3(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.3(ATM):c.7043C>T (p.Thr2348Met)
NM_000051.3(ATM):c.7052A>G (p.Glu2351Gly)
NM_000051.3(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.3(ATM):c.7065_7067CAT[1] (p.Ile2356del) rs879254220
NM_000051.3(ATM):c.7066A>G (p.Ile2356Val) rs876658517
NM_000051.3(ATM):c.7066A>T (p.Ile2356Phe) rs876658517
NM_000051.3(ATM):c.7070_7072dup (p.Gln2358_Thr2359insLeu)
NM_000051.3(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.3(ATM):c.7074G>T (p.Gln2358His) rs1060501593
NM_000051.3(ATM):c.7076C>A (p.Thr2359Asn)
NM_000051.3(ATM):c.7076C>T (p.Thr2359Ile) rs730881314
NM_000051.3(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.3(ATM):c.7079A>G (p.Tyr2360Cys) rs1555121141
NM_000051.3(ATM):c.7081C>A (p.Leu2361Ile) rs1412288141
NM_000051.3(ATM):c.7088A>T (p.Lys2363Met) rs757293178
NM_000051.3(ATM):c.7089+3A>G rs1565524203
NM_000051.3(ATM):c.7090-7C>T rs774223576
NM_000051.3(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.3(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
NM_000051.3(ATM):c.7093G>A (p.Val2365Ile)
NM_000051.3(ATM):c.7096G>A (p.Glu2366Lys) rs587781672
NM_000051.3(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.3(ATM):c.7099G>C (p.Val2367Leu) rs1060501647
NM_000051.3(ATM):c.7108A>G (p.Asn2370Asp) rs767494363
NM_000051.3(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.3(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.3(ATM):c.7121A>C (p.Glu2374Ala) rs587782225
NM_000051.3(ATM):c.7122A>C (p.Glu2374Asp) rs376159946
NM_000051.3(ATM):c.7123_7125AGT[1] (p.Ser2376del) rs1555121978
NM_000051.3(ATM):c.7129G>T (p.Asp2377Tyr) rs1555122008
NM_000051.3(ATM):c.7135C>G (p.Leu2379Val) rs778888033
NM_000051.3(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.3(ATM):c.7156G>C (p.Ala2386Pro) rs876659392
NM_000051.3(ATM):c.7156G>T (p.Ala2386Ser) rs876659392
NM_000051.3(ATM):c.7157C>A (p.Ala2386Glu) rs786203697
NM_000051.3(ATM):c.7157C>G (p.Ala2386Gly) rs786203697
NM_000051.3(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.3(ATM):c.7174C>T (p.Arg2392Trp) rs149827260
NM_000051.3(ATM):c.7175G>A (p.Arg2392Gln) rs876659083
NM_000051.3(ATM):c.7175G>T (p.Arg2392Leu)
NM_000051.3(ATM):c.7178T>G (p.Phe2393Cys) rs1555122073
NM_000051.3(ATM):c.7179T>G (p.Phe2393Leu) rs1057520430
NM_000051.3(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7189C>G (p.Gln2397Glu) rs747372355
NM_000051.3(ATM):c.7190A>G (p.Gln2397Arg) rs1060501592
NM_000051.3(ATM):c.7196A>G (p.Gln2399Arg) rs1565526758
NM_000051.3(ATM):c.7199G>T (p.Arg2400Ile) rs567457294
NM_000051.3(ATM):c.7200A>C (p.Arg2400Ser) rs1060501534
NM_000051.3(ATM):c.7200A>G (p.Arg2400=) rs1060501534
NM_000051.3(ATM):c.7201A>G (p.Ile2401Val) rs1565526813
NM_000051.3(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.3(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.3(ATM):c.7213A>C (p.Met2405Leu)
NM_000051.3(ATM):c.7213A>G (p.Met2405Val) rs587781323
NM_000051.3(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.3(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.3(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.3(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.3(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.3(ATM):c.7230T>G (p.Phe2410Leu) rs1565527030
NM_000051.3(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.3(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.3(ATM):c.7240C>A (p.Gln2414Lys) rs863224462
NM_000051.3(ATM):c.7244C>G (p.Ala2415Gly) rs370567994
NM_000051.3(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.3(ATM):c.7246C>T (p.Leu2416Phe) rs1060501615
NM_000051.3(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.3(ATM):c.7261A>G (p.Lys2421Glu) rs1555122220
NM_000051.3(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.3(ATM):c.7262A>T (p.Lys2421Ile)
NM_000051.3(ATM):c.7264G>A (p.Glu2422Lys) rs1163371592
NM_000051.3(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.3(ATM):c.7267G>A (p.Glu2423Lys) rs1555122245
NM_000051.3(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.3(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.3(ATM):c.7277T>C (p.Leu2426Pro)
NM_000051.3(ATM):c.7280T>C (p.Leu2427Pro) rs1555122272
NM_000051.3(ATM):c.7280T>G (p.Leu2427Arg) rs1555122272
NM_000051.3(ATM):c.7282A>G (p.Arg2428Gly) rs1555122281
NM_000051.3(ATM):c.7282A>T (p.Arg2428Trp) rs1555122281
NM_000051.3(ATM):c.7289A>G (p.His2430Arg) rs786202856
NM_000051.3(ATM):c.7290T>A (p.His2430Gln) rs876658715
NM_000051.3(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.3(ATM):c.7291A>G (p.Lys2431Glu) rs864622563
NM_000051.3(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.3(ATM):c.7303A>G (p.Asn2435Asp) rs1555122326
NM_000051.3(ATM):c.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.3(ATM):c.7306A>G (p.Arg2436Gly) rs1555122335
NM_000051.3(ATM):c.7307+18A>G rs777909508
NM_000051.3(ATM):c.7307+1_7307+3dup rs1565527496
NM_000051.3(ATM):c.7307+3A>C rs1565527512
NM_000051.3(ATM):c.7307+3_7307+4insGTTC rs587782288
NM_000051.3(ATM):c.7307+4A>G rs730881316
NM_000051.3(ATM):c.7307+4A>T
NM_000051.3(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.3(ATM):c.7308-10T>C rs745319720
NM_000051.3(ATM):c.7308-10T>G rs745319720
NM_000051.3(ATM):c.7308-11T>C rs1565529149
NM_000051.3(ATM):c.7308-6T>C rs574836628
NM_000051.3(ATM):c.7308-7A>G rs1476284330
NM_000051.3(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.3(ATM):c.7309T>C (p.Tyr2437His) rs1565529213
NM_000051.3(ATM):c.7310A>G (p.Tyr2437Cys) rs1555122944
NM_000051.3(ATM):c.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.3(ATM):c.7313C>G (p.Thr2438Arg) rs147604227
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7315G>C (p.Val2439Leu)
NM_000051.3(ATM):c.7316T>C (p.Val2439Ala) rs776266049
NM_000051.3(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.3(ATM):c.7321G>T (p.Val2441Phe) rs876659556
NM_000051.3(ATM):c.7322T>C (p.Val2441Ala) rs765548443
NM_000051.3(ATM):c.7326G>T (p.Gln2442His) rs1555122970
NM_000051.3(ATM):c.7327C>G (p.Arg2443Gly)
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7331A>C (p.Glu2444Ala) rs879254245
NM_000051.3(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.3(ATM):c.7334T>A (p.Leu2445Gln) rs1555122992
NM_000051.3(ATM):c.7334T>C (p.Leu2445Pro) rs1555122992
NM_000051.3(ATM):c.7336G>A (p.Glu2446Lys) rs730881318
NM_000051.3(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.3(ATM):c.7339T>G (p.Leu2447Val)
NM_000051.3(ATM):c.7346A>C (p.Glu2449Ala) rs1555123004
NM_000051.3(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.3(ATM):c.7351G>T (p.Ala2451Ser) rs587779862
NM_000051.3(ATM):c.7354C>G (p.Leu2452Val) rs587779863
NM_000051.3(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.3(ATM):c.7357C>T (p.Arg2453Cys) rs755418571
NM_000051.3(ATM):c.7358G>A (p.Arg2453His) rs587781361
NM_000051.3(ATM):c.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.3(ATM):c.7364T>G (p.Leu2455Arg) rs1555123056
NM_000051.3(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.3(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.3(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.3(ATM):c.7375C>T (p.Arg2459Cys) rs730881383
NM_000051.3(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7382G>A (p.Arg2461His) rs768461085
NM_000051.3(ATM):c.7382G>C (p.Arg2461Pro) rs768461085
NM_000051.3(ATM):c.7383C>T (p.Arg2461=) rs1429991894
NM_000051.3(ATM):c.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
NM_000051.3(ATM):c.7399G>A (p.Val2467Ile) rs769722643
NM_000051.3(ATM):c.7400T>C (p.Val2467Ala)
NM_000051.3(ATM):c.7409A>G (p.Tyr2470Cys) rs878853544
NM_000051.3(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.3(ATM):c.7411A>G (p.Ile2471Val) rs1565529832
NM_000051.3(ATM):c.7412T>G (p.Ile2471Ser)
NM_000051.3(ATM):c.7415A>G (p.Asn2472Ser) rs1565529851
NM_000051.3(ATM):c.7424T>C (p.Leu2475Ser) rs1224883896
NM_000051.3(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.3(ATM):c.7427G>A (p.Ser2476Asn)
NM_000051.3(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.3(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
NM_000051.3(ATM):c.7444A>G (p.Met2482Val) rs951373716
NM_000051.3(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.3(ATM):c.7445_7446delinsCT (p.Met2482Thr) rs1565529987
NM_000051.3(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.3(ATM):c.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.3(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7463G>T (p.Cys2488Phe)
NM_000051.3(ATM):c.7468C>T (p.Leu2490Phe) rs753262623
NM_000051.3(ATM):c.7473G>T (p.Trp2491Cys) rs1555123257
NM_000051.3(ATM):c.7474C>T (p.Leu2492Phe) rs1555123259
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119
NM_000051.3(ATM):c.7486G>C (p.Gly2496Arg) rs1565530187
NM_000051.3(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.3(ATM):c.7487G>C (p.Gly2496Ala) rs764478418
NM_000051.3(ATM):c.7491_7499del (p.Ser2498_Val2500del) rs1064796307
NM_000051.3(ATM):c.7492T>G (p.Ser2498Ala) rs754245181
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7496A>G (p.Glu2499Gly) rs1224705805
NM_000051.3(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.3(ATM):c.7499T>C (p.Val2500Ala) rs779810877
NM_000051.3(ATM):c.7499_7502delinsCCAG (p.Val2500_Asn2501delinsAlaSer) rs1555123310
NM_000051.3(ATM):c.7502A>G (p.Asn2501Ser) rs531617441
NM_000051.3(ATM):c.7507A>G (p.Met2503Val) rs780931855
NM_000051.3(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.3(ATM):c.7509G>A (p.Met2503Ile) rs1266101531
NM_000051.3(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.3(ATM):c.7515+19A>T rs879254202
NM_000051.3(ATM):c.7515+4A>G rs1565530434
NM_000051.3(ATM):c.7515+5G>A rs1555123361
NM_000051.3(ATM):c.7516-4G>T rs876660105
NM_000051.3(ATM):c.7516-9delT rs573494809
NM_000051.3(ATM):c.7516A>G (p.Arg2506Gly) rs200441272
NM_000051.3(ATM):c.7517G>A (p.Arg2506Lys) rs1555123920
NM_000051.3(ATM):c.7521C>A (p.Asp2507Glu) rs751234924
NM_000051.3(ATM):c.7522G>A (p.Gly2508Arg) rs754395517
NM_000051.3(ATM):c.7527G>A (p.Met2509Ile) rs1060501579
NM_000051.3(ATM):c.7531A>T (p.Ile2511Phe) rs146069748
NM_000051.3(ATM):c.7534C>A (p.Pro2512Thr) rs1565532052
NM_000051.3(ATM):c.7535C>T (p.Pro2512Leu) rs1237858258
NM_000051.3(ATM):c.7540T>C (p.Tyr2514His) rs1555123985
NM_000051.3(ATM):c.7541A>G (p.Tyr2514Cys) rs1555123994
NM_000051.3(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
NM_000051.3(ATM):c.7543A>G (p.Lys2515Glu) rs1555124004
NM_000051.3(ATM):c.7547T>G (p.Phe2516Cys) rs774312539
NM_000051.3(ATM):c.7552C>T (p.Pro2518Ser) rs374876799
NM_000051.3(ATM):c.7553C>A (p.Pro2518His)
NM_000051.3(ATM):c.7553C>T (p.Pro2518Leu) rs879254136
NM_000051.3(ATM):c.7555C>G (p.Leu2519Val) rs1555124019
NM_000051.3(ATM):c.7559T>G (p.Met2520Arg) rs587782692
NM_000051.3(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.3(ATM):c.7564C>G (p.Gln2522Glu)
NM_000051.3(ATM):c.7565A>G (p.Gln2522Arg) rs1555124039
NM_000051.3(ATM):c.7566A>G (p.Gln2522=) rs775621333
NM_000051.3(ATM):c.7566A>T (p.Gln2522His) rs775621333
NM_000051.3(ATM):c.7570G>T (p.Ala2524Ser)
NM_000051.3(ATM):c.7571C>T (p.Ala2524Val) rs876660663
NM_000051.3(ATM):c.7575_7576insTTC (p.Arg2526_Met2527insPhe) rs1555124054
NM_000051.3(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.3(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.3(ATM):c.7580T>A (p.Met2527Lys) rs1555124065
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7593G>A (p.Met2531Ile) rs786203764
NM_000051.3(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.3(ATM):c.7598G>A (p.Gly2533Glu) rs864622688
NM_000051.3(ATM):c.7600G>A (p.Gly2534Ser) rs1555124094
NM_000051.3(ATM):c.7615G>A (p.Glu2539Lys) rs876658496
NM_000051.3(ATM):c.7617A>C (p.Glu2539Asp)
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7621C>T (p.Leu2541Phe) rs1565532615
NM_000051.3(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.3(ATM):c.7626T>A (p.Asn2542Lys) rs1555124134
NM_000051.3(ATM):c.7629+12_7629+15delTGAA rs1555124156
NM_000051.3(ATM):c.7629+2dup rs1555124141
NM_000051.3(ATM):c.7629+3A>C rs752251778
NM_000051.3(ATM):c.7629T>C (p.Asn2543=) rs767123895
NM_000051.3(ATM):c.7630-3C>A rs587782448
NM_000051.3(ATM):c.7630-3C>G rs587782448
NM_000051.3(ATM):c.7630-3C>T rs587782448
NM_000051.3(ATM):c.7630-3_7630-2delCA rs587782250
NM_000051.3(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.3(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.3(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7639A>G (p.Arg2547Gly) rs1565533544
NM_000051.3(ATM):c.7648A>C (p.Met2550Leu) rs878853545
NM_000051.3(ATM):c.7648A>G (p.Met2550Val) rs878853545
NM_000051.3(ATM):c.7650G>T (p.Met2550Ile) rs1565533594
NM_000051.3(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.3(ATM):c.7654C>A (p.His2552Asn) rs786202174
NM_000051.3(ATM):c.7656C>A (p.His2552Gln) rs1555124473
NM_000051.3(ATM):c.7657C>A (p.Pro2553Thr) rs1555124475
NM_000051.3(ATM):c.7658C>A (p.Pro2553His) rs864622368
NM_000051.3(ATM):c.7658C>G (p.Pro2553Arg) rs864622368
NM_000051.3(ATM):c.7658C>T (p.Pro2553Leu) rs864622368
NM_000051.3(ATM):c.7660C>T (p.His2554Tyr) rs1555124482
NM_000051.3(ATM):c.7661A>T (p.His2554Leu) rs1555124487
NM_000051.3(ATM):c.7663C>A (p.His2555Asn) rs786203651
NM_000051.3(ATM):c.7664A>G (p.His2555Arg) rs876658925
NM_000051.3(ATM):c.7667C>A (p.Thr2556Asn) rs1226186392
NM_000051.3(ATM):c.7684G>A (p.Ala2562Thr) rs1555124521
NM_000051.3(ATM):c.7684G>T (p.Ala2562Ser)
NM_000051.3(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.3(ATM):c.7687T>G (p.Leu2563Val) rs1208002418
NM_000051.3(ATM):c.7690G>A (p.Ala2564Thr) rs940285361
NM_000051.3(ATM):c.7693A>G (p.Asn2565Asp) rs1555124543
NM_000051.3(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.3(ATM):c.7703G>A (p.Arg2568Lys)
NM_000051.3(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.3(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.3(ATM):c.7718C>G (p.Thr2573Ser) rs1565534068
NM_000051.3(ATM):c.7720A>C (p.Lys2574Gln) rs1357229307
NM_000051.3(ATM):c.7727A>G (p.Glu2576Gly) rs1202657573
NM_000051.3(ATM):c.7729G>A (p.Val2577Ile) rs1064795004
NM_000051.3(ATM):c.7732G>C (p.Ala2578Pro) rs1555124632
NM_000051.3(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.3(ATM):c.7737_7739AAG[1] (p.Arg2580del) rs1064795204
NM_000051.3(ATM):c.7739G>A (p.Arg2580Lys) rs761790685
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7742G>A (p.Ser2581Asn) rs1064795028
NM_000051.3(ATM):c.7744A>G (p.Arg2582Gly) rs750224234
NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) rs587778079
NM_000051.3(ATM):c.7765A>G (p.Lys2589Glu) rs876659557
NM_000051.3(ATM):c.7766A>G (p.Lys2589Arg) rs878853546
NM_000051.3(ATM):c.7768C>G (p.Gln2590Glu) rs876659561
NM_000051.3(ATM):c.7769A>G (p.Gln2590Arg) rs1555124706
NM_000051.3(ATM):c.7770A>G (p.Gln2590=) rs864622437
NM_000051.3(ATM):c.7772G>A (p.Ser2591Asn) rs730881319
NM_000051.3(ATM):c.7774T>C (p.Ser2592Pro) rs786202025
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.3(ATM):c.7788+3A>G rs869312788
NM_000051.3(ATM):c.7788+3A>T rs869312788
NM_000051.3(ATM):c.7788+7G>A rs749610251
NM_000051.3(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.3(ATM):c.7788G>T (p.Glu2596Asp) rs587780639
NM_000051.3(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.3(ATM):c.7793G>A (p.Arg2598Gln) rs140263969
NM_000051.3(ATM):c.7793G>T (p.Arg2598Leu) rs140263969
NM_000051.3(ATM):c.7804G>A (p.Ala2602Thr) rs1555125227
NM_000051.3(ATM):c.7808A>G (p.Asn2603Ser) rs150355232
NM_000051.3(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.3(ATM):c.7813_7815ATA[1] (p.Ile2606del) rs786203830
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.3(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.3(ATM):c.7825A>G (p.Ile2609Val) rs779400418
NM_000051.3(ATM):c.7826T>C (p.Ile2609Thr) rs369846067
NM_000051.3(ATM):c.7835G>A (p.Arg2612Lys) rs138048269
NM_000051.3(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.3(ATM):c.7841C>A (p.Pro2614His) rs769207177
NM_000051.3(ATM):c.7841C>T (p.Pro2614Leu) rs769207177
NM_000051.3(ATM):c.7843C>G (p.Gln2615Glu)
NM_000051.3(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.3(ATM):c.7847T>C (p.Met2616Thr) rs762765902
NM_000051.3(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.3(ATM):c.7852A>G (p.Arg2618Gly) rs1057521185
NM_000051.3(ATM):c.7854A>C (p.Arg2618Ser) rs1565536250
NM_000051.3(ATM):c.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.3(ATM):c.7865C>G (p.Ala2622Gly) rs766351395
NM_000051.3(ATM):c.7867C>G (p.Leu2623Val)
NM_000051.3(ATM):c.7871G>C (p.Cys2624Ser)
NM_000051.3(ATM):c.7874A>C (p.Asp2625Ala) rs876660121
NM_000051.3(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.3(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019
NM_000051.3(ATM):c.7882A>C (p.Ile2628Leu)
NM_000051.3(ATM):c.7882A>G (p.Ile2628Val) rs587781370
NM_000051.3(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.3(ATM):c.7888T>G (p.Leu2630Val) rs1555125427
NM_000051.3(ATM):c.7897T>G (p.Leu2633Val) rs587779868
NM_000051.3(ATM):c.7901A>T (p.Asp2634Val) rs876660909
NM_000051.3(ATM):c.7902T>G (p.Asp2634Glu) rs373147078
NM_000051.3(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.3(ATM):c.7910A>G (p.Gln2637Arg) rs1555125476
NM_000051.3(ATM):c.7912T>G (p.Trp2638Gly) rs563137460
NM_000051.3(ATM):c.7914G>T (p.Trp2638Cys) rs758843096
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7927+5G>A rs1299306446
NM_000051.3(ATM):c.7927+5G>C rs1299306446
NM_000051.3(ATM):c.7927+5delG rs786204437
NM_000051.3(ATM):c.7927+6T>G
NM_000051.3(ATM):c.7927A>G (p.Lys2643Glu) rs587782487
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.7928-10T>G rs188404773
NM_000051.3(ATM):c.7928-3C>T rs1555126153
NM_000051.3(ATM):c.7928-4A>C rs876658629
NM_000051.3(ATM):c.7929A>T (p.Lys2643Asn) rs780247224
NM_000051.3(ATM):c.7930G>A (p.Gly2644Ser) rs587781897
NM_000051.3(ATM):c.7930G>C (p.Gly2644Arg) rs587781897
NM_000051.3(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.3(ATM):c.7936A>C (p.Asn2646His) rs1060501575
NM_000051.3(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.3(ATM):c.7942C>G (p.Pro2648Ala) rs878853547
NM_000051.3(ATM):c.7946C>T (p.Ala2649Val) rs876660877
NM_000051.3(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
NM_000051.3(ATM):c.7949A>C (p.Asp2650Ala) rs1060501635
NM_000051.3(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.3(ATM):c.7955C>T (p.Pro2652Leu) rs1565538433
NM_000051.3(ATM):c.7957A>G (p.Ile2653Val) rs747448699
NM_000051.3(ATM):c.7958_7960del (p.Ile2653del) rs1555126226
NM_000051.3(ATM):c.7961C>T (p.Thr2654Ile) rs786203621
NM_000051.3(ATM):c.7967T>G (p.Leu2656Arg) rs121434218
NM_000051.3(ATM):c.7969A>G (p.Lys2657Glu) rs755706903
NM_000051.3(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.3(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.7983_7985TGT[2] (p.Val2664del) rs876660743
NM_000051.3(ATM):c.7984G>A (p.Val2662Ile) rs1315805984
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.7991_8010+8dup rs1555126295
NM_000051.3(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304
NM_000051.3(ATM):c.7994C>A (p.Pro2665His)
NM_000051.3(ATM):c.7994C>T (p.Pro2665Leu)
NM_000051.3(ATM):c.7996A>C (p.Thr2666Pro) rs745775382
NM_000051.3(ATM):c.7996A>G (p.Thr2666Ala) rs745775382
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.7999A>G (p.Met2667Val) rs34099398
NM_000051.3(ATM):c.7999A>T (p.Met2667Leu) rs34099398
NM_000051.3(ATM):c.8000T>C (p.Met2667Thr) rs1060501566
NM_000051.3(ATM):c.8001G>A (p.Met2667Ile)
NM_000051.3(ATM):c.8010+5T>A rs56256497
NM_000051.3(ATM):c.8010+5T>C rs56256497
NM_000051.3(ATM):c.8010+5T>G rs56256497
NM_000051.3(ATM):c.8011-10C>G rs1555127008
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.3(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.3(ATM):c.8015A>G (p.Asp2672Gly)
NM_000051.3(ATM):c.8017C>T (p.His2673Tyr) rs1555127035
NM_000051.3(ATM):c.8026G>A (p.Glu2676Lys) rs786202859
NM_000051.3(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.3(ATM):c.8032G>A (p.Gly2678Arg) rs766730487
NM_000051.3(ATM):c.8041G>A (p.Val2681Met) rs1064795034
NM_000051.3(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.3(ATM):c.8044A>C (p.Thr2682Pro) rs730881320
NM_000051.3(ATM):c.8045C>G (p.Thr2682Ser)
NM_000051.3(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.3(ATM):c.8047A>G (p.Ile2683Val) rs587781344
NM_000051.3(ATM):c.8047A>T (p.Ile2683Leu) rs587781344
NM_000051.3(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
NM_000051.3(ATM):c.8049A>G (p.Ile2683Met) rs1292192410
NM_000051.3(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.3(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.3(ATM):c.8062G>A (p.Ala2688Thr) rs1565540761
NM_000051.3(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.3(ATM):c.8072G>A (p.Arg2691His) rs876658385
NM_000051.3(ATM):c.8072G>C (p.Arg2691Pro) rs876658385
NM_000051.3(ATM):c.8073C>G (p.Arg2691=)
NM_000051.3(ATM):c.8079_8081AGG[1] (p.Gly2695del) rs1565540828
NM_000051.3(ATM):c.8080G>A (p.Gly2694Arg) rs1555127157
NM_000051.3(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.3(ATM):c.8083G>T (p.Gly2695Cys) rs1555127166
NM_000051.3(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.3(ATM):c.8084G>C (p.Gly2695Ala)
NM_000051.3(ATM):c.8086G>A (p.Val2696Ile) rs989577687
NM_000051.3(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.3(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.3(ATM):c.8100A>G (p.Lys2700=) rs778601472
NM_000051.3(ATM):c.8100A>T (p.Lys2700Asn) rs778601472
NM_000051.3(ATM):c.8105T>G (p.Ile2702Arg) rs876659735
NM_000051.3(ATM):c.8107G>A (p.Asp2703Asn) rs1555127236
NM_000051.3(ATM):c.8108A>T (p.Asp2703Val) rs1565541059
NM_000051.3(ATM):c.8111G>A (p.Cys2704Tyr) rs1555127249
NM_000051.3(ATM):c.8113G>A (p.Val2705Ile) rs587779870
NM_000051.3(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.3(ATM):c.8119T>A (p.Ser2707Thr) rs1555127276
NM_000051.3(ATM):c.8120C>G (p.Ser2707Cys) rs748016261
NM_000051.3(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
NM_000051.3(ATM):c.8125G>A (p.Gly2709Ser) rs3218680
NM_000051.3(ATM):c.8129A>G (p.Lys2710Arg) rs587782001
NM_000051.3(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.3(ATM):c.8138G>C (p.Arg2713Thr) rs876659351
NM_000051.3(ATM):c.8140C>A (p.Gln2714Lys) rs1060501695
NM_000051.3(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.3(ATM):c.8149A>C (p.Lys2717Gln)
NM_000051.3(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.3(ATM):c.8151+4A>T rs1294982909
NM_000051.3(ATM):c.8151+5G>A rs1555127370
NM_000051.3(ATM):c.8152-6C>T rs200389039
NM_000051.3(ATM):c.8152-8T>G rs752705487
NM_000051.3(ATM):c.8152G>A (p.Gly2718Ser) rs1060501689
NM_000051.3(ATM):c.8155C>T (p.Arg2719Cys) rs138526014
NM_000051.3(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000051.3(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.3(ATM):c.8158G>A (p.Asp2720Asn) rs876659942
NM_000051.3(ATM):c.8158G>C (p.Asp2720His)
NM_000051.3(ATM):c.8161G>C (p.Asp2721His) rs876659066
NM_000051.3(ATM):c.8162A>G (p.Asp2721Gly) rs1555128280
NM_000051.3(ATM):c.8164C>G (p.Leu2722Val) rs587782399
NM_000051.3(ATM):c.8164_8181del (p.Leu2722_Val2727del) rs1555128287
NM_000051.3(ATM):c.8168G>T (p.Arg2723Ile) rs1555128301
NM_000051.3(ATM):c.8169A>T (p.Arg2723Ser) rs780495319
NM_000051.3(ATM):c.8171A>G (p.Gln2724Arg) rs1565543300
NM_000051.3(ATM):c.8173G>C (p.Asp2725His) rs587782049
NM_000051.3(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.3(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.3(ATM):c.8180T>G (p.Val2727Gly)
NM_000051.3(ATM):c.8182A>T (p.Met2728Leu) rs1555128338
NM_000051.3(ATM):c.8186A>C (p.Gln2729Pro) rs1555128350
NM_000051.3(ATM):c.8187A>C (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.3(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8188C>A (p.Gln2730Lys) rs587782317
NM_000051.3(ATM):c.8189A>G (p.Gln2730Arg)
NM_000051.3(ATM):c.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.3(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.3(ATM):c.8198A>G (p.Gln2733Arg)
NM_000051.3(ATM):c.8206A>T (p.Asn2736Tyr) rs1060501577
NM_000051.3(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608
NM_000051.3(ATM):c.8217G>A (p.Leu2739=) rs759069006
NM_000051.3(ATM):c.8228C>G (p.Thr2743Arg) rs730881321
NM_000051.3(ATM):c.8228C>T (p.Thr2743Met) rs730881321
NM_000051.3(ATM):c.8231A>C (p.Glu2744Ala) rs764003317
NM_000051.3(ATM):c.8234C>T (p.Thr2745Ile) rs786203094
NM_000051.3(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
NM_000051.3(ATM):c.8246A>G (p.Lys2749Arg) rs779145081
NM_000051.3(ATM):c.8246A>T (p.Lys2749Ile) rs779145081
NM_000051.3(ATM):c.8248T>A (p.Leu2750Ile) rs876658559
NM_000051.3(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.3(ATM):c.8254A>G (p.Ile2752Val) rs1215163673
NM_000051.3(ATM):c.8256C>G (p.Ile2752Met) rs1555128574
NM_000051.3(ATM):c.8258G>T (p.Cys2753Phe) rs1284049490
NM_000051.3(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.3(ATM):c.8261C>T (p.Thr2754Ile) rs587779871
NM_000051.3(ATM):c.8266A>C (p.Lys2756Gln) rs371638537
NM_000051.3(ATM):c.8266A>G (p.Lys2756Glu) rs371638537
NM_000051.3(ATM):c.8267A>G (p.Lys2756Arg) rs1555128635
NM_000051.3(ATM):c.8268+1G>A rs876658957
NM_000051.3(ATM):c.8268+5C>T rs1565544035
NM_000051.3(ATM):c.8268+6T>A rs747153940
NM_000051.3(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.3(ATM):c.8269-10_8269-9delGT rs587780641
NM_000051.3(ATM):c.8269-18_8269-15delTTTA rs1064794684
NM_000051.3(ATM):c.8269-5T>G rs1555135331
NM_000051.3(ATM):c.8269G>A (p.Val2757Met) rs761625350
NM_000051.3(ATM):c.8269G>C (p.Val2757Leu) rs761625350
NM_000051.3(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.3(ATM):c.8272G>T (p.Val2758Phe) rs1555135373
NM_000051.3(ATM):c.8275C>G (p.Pro2759Ala)
NM_000051.3(ATM):c.8275C>T (p.Pro2759Ser) rs764906663
NM_000051.3(ATM):c.8278C>G (p.Leu2760Val) rs758609900
NM_000051.3(ATM):c.8279T>C (p.Leu2760Pro) rs1060501578
NM_000051.3(ATM):c.8288G>A (p.Arg2763Gln) rs551411717
NM_000051.3(ATM):c.8291_8293GTG[1] (p.Gly2765del) rs1565557806
NM_000051.3(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.3(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.3(ATM):c.8297T>G (p.Val2766Gly) rs1064796249
NM_000051.3(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.3(ATM):c.8300T>G (p.Leu2767Arg)
NM_000051.3(ATM):c.8302G>A (p.Glu2768Lys) rs1555135513
NM_000051.3(ATM):c.8305T>C (p.Trp2769Arg)
NM_000051.3(ATM):c.8308T>G (p.Cys2770Gly) rs749737164
NM_000051.3(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.3(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.3(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239
NM_000051.3(ATM):c.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.3(ATM):c.8315G>C (p.Gly2772Ala) rs775293524
NM_000051.3(ATM):c.8318C>A (p.Thr2773Asn) rs786203321
NM_000051.3(ATM):c.8327T>C (p.Ile2776Thr) rs746475628
NM_000051.3(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.3(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.3(ATM):c.8336T>A (p.Phe2779Tyr) rs876660461
NM_000051.3(ATM):c.8341G>T (p.Val2781Phe) rs1293051732
NM_000051.3(ATM):c.8341_8343del (p.Val2781del) rs1178661659
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8354A>G (p.Asp2785Gly)
NM_000051.3(ATM):c.8355T>C (p.Asp2785=) rs372834825
NM_000051.3(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.3(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.3(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.3(ATM):c.8366A>G (p.Lys2789Arg)
NM_000051.3(ATM):c.8372A>G (p.Tyr2791Cys)
NM_000051.3(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.3(ATM):c.8382T>A (p.Asn2794Lys) rs1555135797
NM_000051.3(ATM):c.8383G>A (p.Asp2795Asn)
NM_000051.3(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.3(ATM):c.8386T>C (p.Phe2796Leu)
NM_000051.3(ATM):c.8389A>G (p.Ser2797Gly)
NM_000051.3(ATM):c.8390G>A (p.Ser2797Asn) rs1203037698
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8392G>T (p.Ala2798Ser)
NM_000051.3(ATM):c.8393C>A (p.Ala2798Asp) rs772992098
NM_000051.3(ATM):c.8393C>T (p.Ala2798Val) rs772992098
NM_000051.3(ATM):c.8395T>G (p.Phe2799Val) rs730881323
NM_000051.3(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.3(ATM):c.8400G>C (p.Gln2800His) rs879253901
NM_000051.3(ATM):c.8405A>G (p.Gln2802Arg) rs730881324
NM_000051.3(ATM):c.8410A>C (p.Lys2804Gln) rs878853549
NM_000051.3(ATM):c.8415G>A (p.Met2805Ile) rs1555135878
NM_000051.3(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.3(ATM):c.8418+5G>A rs1305740166
NM_000051.3(ATM):c.8418+5G>T rs1305740166
NM_000051.3(ATM):c.8418+6T>C rs1555135928
NM_000051.3(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.3(ATM):c.8419-16_8419-13delTATT rs774275044
NM_000051.3(ATM):c.8419-7_8419-4delTTTA rs730881306
NM_000051.3(ATM):c.8419G>A (p.Glu2807Lys) rs1555137929
NM_000051.3(ATM):c.8422G>A (p.Val2808Met) rs876660616
NM_000051.3(ATM):c.8425C>G (p.Gln2809Glu) rs1555137973
NM_000051.3(ATM):c.8428A>C (p.Lys2810Gln) rs730881325
NM_000051.3(ATM):c.8428A>G (p.Lys2810Glu) rs730881325
NM_000051.3(ATM):c.8429A>C (p.Lys2810Thr) rs1555137999
NM_000051.3(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.3(ATM):c.8434T>C (p.Ser2812Pro) rs786202372
NM_000051.3(ATM):c.8434T>G (p.Ser2812Ala) rs786202372
NM_000051.3(ATM):c.8435C>G (p.Ser2812Cys) rs1565563280
NM_000051.3(ATM):c.8435_8437del (p.Ser2812del)
NM_000051.3(ATM):c.8437T>C (p.Phe2813Leu) rs1280239284
NM_000051.3(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027
NM_000051.3(ATM):c.8443G>A (p.Glu2815Lys)
NM_000051.3(ATM):c.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678
NM_000051.3(ATM):c.8456T>G (p.Val2819Gly) rs1565563392
NM_000051.3(ATM):c.8461A>G (p.Met2821Val) rs876660081
NM_000051.3(ATM):c.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.3(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.3(ATM):c.8471G>C (p.Cys2824Ser)
NM_000051.3(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
NM_000051.3(ATM):c.8479T>A (p.Phe2827Ile) rs370152402
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8481T>G (p.Phe2827Leu) rs886047614
NM_000051.3(ATM):c.8482C>G (p.Gln2828Glu) rs1555138125
NM_000051.3(ATM):c.8483A>G (p.Gln2828Arg) rs1565563564
NM_000051.3(ATM):c.8486C>T (p.Pro2829Leu) rs938431501
NM_000051.3(ATM):c.8492T>C (p.Phe2831Ser)
NM_000051.3(ATM):c.8495G>A (p.Arg2832His) rs529296539
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8497T>C (p.Tyr2833His) rs774171813
NM_000051.3(ATM):c.8498A>G (p.Tyr2833Cys) rs1555138162
NM_000051.3(ATM):c.8504G>A (p.Cys2835Tyr) rs759655842
NM_000051.3(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.3(ATM):c.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.3(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8519T>C (p.Leu2840Ser)
NM_000051.3(ATM):c.8520G>C (p.Leu2840Phe) rs752652869
NM_000051.3(ATM):c.8521G>C (p.Asp2841His) rs786203013
NM_000051.3(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.3(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.3(ATM):c.8525C>G (p.Pro2842Arg) rs879254065
NM_000051.3(ATM):c.8528C>T (p.Ala2843Val) rs1060501637
NM_000051.3(ATM):c.8530A>C (p.Ile2844Leu) rs756230327
NM_000051.3(ATM):c.8530A>G (p.Ile2844Val) rs756230327
NM_000051.3(ATM):c.8530_8532dup (p.Ile2844dup) rs1555138275
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8542A>G (p.Lys2848Glu) rs1565563932
NM_000051.3(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.3(ATM):c.8546G>A (p.Arg2849Gln) rs587782202
NM_000051.3(ATM):c.8548T>G (p.Leu2850Val) rs1555138320
NM_000051.3(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.3(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000051.3(ATM):c.8554T>C (p.Tyr2852His) rs1064794108
NM_000051.3(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.3(ATM):c.8558C>T (p.Thr2853Met) rs141534716
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.3(ATM):c.8561G>T (p.Arg2854Leu) rs1060501605
NM_000051.3(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8567T>A (p.Val2856Glu) rs1060501649
NM_000051.3(ATM):c.8572A>G (p.Thr2858Ala) rs749193688
NM_000051.3(ATM):c.8576C>G (p.Ser2859Cys) rs786203542
NM_000051.3(ATM):c.8576C>T (p.Ser2859Phe) rs786203542
NM_000051.3(ATM):c.8578_8580delTCT (p.SER1512DEL) rs786203976
NM_000051.3(ATM):c.8581A>G (p.Ile2861Val) rs1555138472
NM_000051.3(ATM):c.8584+4A>G rs1555138484
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.8588G>T (p.Gly2863Val) rs786201911
NM_000051.3(ATM):c.8593A>G (p.Ile2865Val) rs786202223
NM_000051.3(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.3(ATM):c.8596C>G (p.Leu2866Val) rs368666328
NM_000051.3(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.3(ATM):c.8597T>C (p.Leu2866Pro) rs1555139517
NM_000051.3(ATM):c.8602C>A (p.Leu2868Ile) rs587780642
NM_000051.3(ATM):c.8602C>G (p.Leu2868Val)
NM_000051.3(ATM):c.8605G>A (p.Gly2869Ser)
NM_000051.3(ATM):c.8606G>A (p.Gly2869Asp) rs1555139531
NM_000051.3(ATM):c.8606G>C (p.Gly2869Ala) rs1555139531
NM_000051.3(ATM):c.8608G>A (p.Asp2870Asn) rs55798854
NM_000051.3(ATM):c.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.3(ATM):c.8610T>C (p.Asp2870=) rs1370524851
NM_000051.3(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.3(ATM):c.8615A>G (p.His2872Arg)
NM_000051.3(ATM):c.8616T>G (p.His2872Gln) rs1555139556
NM_000051.3(ATM):c.8617G>A (p.Val2873Ile) rs730881327
NM_000051.3(ATM):c.8618T>C (p.Val2873Ala)
NM_000051.3(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.3(ATM):c.8624A>C (p.Asn2875Thr) rs587782451
NM_000051.3(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.3(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.3(ATM):c.8631G>C (p.Leu2877Phe) rs1064794840
NM_000051.3(ATM):c.8636A>G (p.Asn2879Ser) rs1565567277
NM_000051.3(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.3(ATM):c.8643G>T (p.Gln2881His)
NM_000051.3(ATM):c.8653C>T (p.Leu2885Phe) rs775185939
NM_000051.3(ATM):c.8656G>A (p.Val2886Ile) rs1064795066
NM_000051.3(ATM):c.8656_8658delinsATT (p.Val2886Ile) rs786202067
NM_000051.3(ATM):c.8659C>G (p.His2887Asp)
NM_000051.3(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.3(ATM):c.8660A>G (p.His2887Arg) rs864622173
NM_000051.3(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.3(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.3(ATM):c.8665G>C (p.Asp2889His) rs587781814
NM_000051.3(ATM):c.8666A>G (p.Asp2889Gly) rs876658236
NM_000051.3(ATM):c.8667T>G (p.Asp2889Glu) rs1565567506
NM_000051.3(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.3(ATM):c.8671+2dup rs1555139698
NM_000051.3(ATM):c.8671+4A>G rs876660652
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8671G>A (p.Gly2891Ser) rs1565567541
NM_000051.3(ATM):c.8672-3T>C rs1060501550
NM_000051.3(ATM):c.8672-3T>G
NM_000051.3(ATM):c.8672G>A (p.Gly2891Asp) rs748192003
NM_000051.3(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.3(ATM):c.8674G>A (p.Val2892Ile) rs1064793425
NM_000051.3(ATM):c.8675T>C (p.Val2892Ala)
NM_000051.3(ATM):c.8677G>A (p.Ala2893Thr) rs1555142808
NM_000051.3(ATM):c.8686_8694del (p.Gln2896_Lys2898del) rs1060501671
NM_000051.3(ATM):c.8697C>G (p.Ile2899Met) rs1333079704
NM_000051.3(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.3(ATM):c.8710G>C (p.Glu2904Gln)
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8713A>C (p.Thr2905Pro) rs1555142833
NM_000051.3(ATM):c.8716G>A (p.Val2906Ile) rs587780643
NM_000051.3(ATM):c.8717T>C (p.Val2906Ala) rs730881328
NM_000051.3(ATM):c.8720C>A (p.Pro2907His) rs56887719
NM_000051.3(ATM):c.8720C>G (p.Pro2907Arg) rs56887719
NM_000051.3(ATM):c.8728C>T (p.Leu2910Phe) rs1555142851
NM_000051.3(ATM):c.8731A>C (p.Thr2911Pro) rs786203271
NM_000051.3(ATM):c.8731A>G (p.Thr2911Ala) rs786203271
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly) rs376676328
NM_000051.3(ATM):c.8737G>C (p.Asp2913His) rs756899044
NM_000051.3(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
NM_000051.3(ATM):c.8741T>C (p.Ile2914Thr) rs780303327
NM_000051.3(ATM):c.8742T>G (p.Ile2914Met) rs587782264
NM_000051.3(ATM):c.8751C>T (p.Gly2917=) rs779858366
NM_000051.3(ATM):c.8752A>T (p.Met2918Leu) rs1555142873
NM_000051.3(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.3(ATM):c.8758A>G (p.Ile2920Val) rs1555142880
NM_000051.3(ATM):c.8759T>C (p.Ile2920Thr) rs1565579485
NM_000051.3(ATM):c.8761A>T (p.Thr2921Ser) rs876658823
NM_000051.3(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.3(ATM):c.8762C>T (p.Thr2921Met) rs730881329
NM_000051.3(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.3(ATM):c.8768T>A (p.Val2923Asp) rs786203055
NM_000051.3(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
NM_000051.3(ATM):c.8773G>C (p.Gly2925Arg)
NM_000051.3(ATM):c.8774G>A (p.Gly2925Asp)
NM_000051.3(ATM):c.8774G>C (p.Gly2925Ala)
NM_000051.3(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.3(ATM):c.8783G>A (p.Arg2928Lys) rs1555142909
NM_000051.3(ATM):c.8785A>C (p.Arg2929=) rs1013290424
NM_000051.3(ATM):c.8786+19delA rs730881307
NM_000051.3(ATM):c.8786+2dup rs1565579654
NM_000051.3(ATM):c.8786_8786+3delGGTA rs1060501569
NM_000051.3(ATM):c.8787-12G>C rs1565582204
NM_000051.3(ATM):c.8787-13T>G rs1565582198
NM_000051.3(ATM):c.8788T>G (p.Cys2930Gly) rs876659807
NM_000051.3(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.3(ATM):c.8789G>T (p.Cys2930Phe) rs1060501572
NM_000051.3(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.3(ATM):c.8792G>A (p.Cys2931Tyr)
NM_000051.3(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.3(ATM):c.8797A>G (p.Lys2933Glu) rs587779875
NM_000051.3(ATM):c.8800A>G (p.Thr2934Ala) rs746351323
NM_000051.3(ATM):c.8801C>A (p.Thr2934Asn)
NM_000051.3(ATM):c.8805G>A (p.Met2935Ile) rs772621438
NM_000051.3(ATM):c.8806G>C (p.Glu2936Gln) rs1060501537
NM_000051.3(ATM):c.8809G>A (p.Val2937Met) rs786203917
NM_000051.3(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.3(ATM):c.8810T>C (p.Val2937Ala) rs587782149
NM_000051.3(ATM):c.8813T>A (p.Met2938Lys) rs1565582407
NM_000051.3(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.3(ATM):c.8820C>G (p.Asn2940Lys) rs775823407
NM_000051.3(ATM):c.8821T>G (p.Ser2941Ala) rs1555143549
NM_000051.3(ATM):c.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.3(ATM):c.8833C>G (p.Leu2945Val) rs786203505
NM_000051.3(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.3(ATM):c.8842A>G (p.Ile2948Val)
NM_000051.3(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.3(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.3(ATM):c.8848G>A (p.Glu2950Lys) rs898091069
NM_000051.3(ATM):c.8850+4A>C rs587782335
NM_000051.3(ATM):c.8850+4A>G rs587782335
NM_000051.3(ATM):c.8850+5A>C rs1057522186
NM_000051.3(ATM):c.8850+5A>T
NM_000051.3(ATM):c.8851-10_8851-7delCTCT
NM_000051.3(ATM):c.8851-3T>G rs748874219
NM_000051.3(ATM):c.8851-?_*3591dup3912
NM_000051.3(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.3(ATM):c.8851G>C (p.Val2951Leu) rs1555151205
NM_000051.3(ATM):c.8854C>G (p.Leu2952Val) rs1555151218
NM_000051.3(ATM):c.8855T>C (p.Leu2952Pro)
NM_000051.3(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.3(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047
NM_000051.3(ATM):c.8863_8865del (p.Asp2955del) rs587780644
NM_000051.3(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.3(ATM):c.8870T>G (p.Leu2957Arg) rs1555151255
NM_000051.3(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.3(ATM):c.8881A>G (p.Thr2961Ala) rs1565607505
NM_000051.3(ATM):c.8882C>T (p.Thr2961Ile)
NM_000051.3(ATM):c.8894T>G (p.Leu2965Trp) rs1555151299
NM_000051.3(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.3(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.3(ATM):c.8904G>T (p.Leu2968Phe) rs1555151326
NM_000051.3(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.3(ATM):c.8912A>G (p.Gln2971Arg) rs1060501714
NM_000051.3(ATM):c.8915A>G (p.Gln2972Arg) rs763773991
NM_000051.3(ATM):c.8917A>G (p.Arg2973Gly) rs1555151352
NM_000051.3(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.3(ATM):c.8920C>A (p.Pro2974Thr) rs984616023
NM_000051.3(ATM):c.8920C>T (p.Pro2974Ser) rs984616023
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.8938C>A (p.Leu2980Ile) rs786203721
NM_000051.3(ATM):c.8938C>G (p.Leu2980Val) rs786203721
NM_000051.3(ATM):c.8941C>T (p.His2981Tyr) rs1555151422
NM_000051.3(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.3(ATM):c.8943C>G (p.His2981Gln) rs876660594
NM_000051.3(ATM):c.8944C>T (p.Pro2982Ser) rs1485620194
NM_000051.3(ATM):c.8947A>C (p.Thr2983Pro) rs1555151456
NM_000051.3(ATM):c.8950C>A (p.Leu2984Met) rs747445236
NM_000051.3(ATM):c.8955T>G (p.Asn2985Lys) rs755561691
NM_000051.3(ATM):c.8959G>C (p.Asp2987His) rs863224582
NM_000051.3(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.3(ATM):c.8965C>G (p.Gln2989Glu) rs147695170
NM_000051.3(ATM):c.8966A>G (p.Gln2989Arg) rs1555151490
NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) rs1800558
NM_000051.3(ATM):c.8972G>A (p.Cys2991Tyr)
NM_000051.3(ATM):c.8972G>T (p.Cys2991Phe) rs1555151500
NM_000051.3(ATM):c.8978G>A (p.Arg2993Gln) rs587778081
NM_000051.3(ATM):c.8983C>A (p.Leu2995Ile) rs142322668
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.8987+3_8987+35del33 rs774188684
NM_000051.3(ATM):c.8987+5G>C rs876660570
NM_000051.3(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
NM_000051.3(ATM):c.8988-3T>C rs1565608600
NM_000051.3(ATM):c.8988-6_8988-4delCCT rs767175242
NM_000051.3(ATM):c.8988-7T>G rs1487809821
NM_000051.3(ATM):c.8988-8dup
NM_000051.3(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.3(ATM):c.8993T>C (p.Ile2998Thr) rs778670498
NM_000051.3(ATM):c.8996A>T (p.Asp2999Val) rs1555151684
NM_000051.3(ATM):c.8998C>G (p.Gln3000Glu) rs587781698
NM_000051.3(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.3(ATM):c.9002G>C (p.Ser3001Thr) rs587781413
NM_000051.3(ATM):c.9005T>A (p.Phe3002Tyr) rs1565608780
NM_000051.3(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.3(ATM):c.9006C>G (p.Phe3002Leu) rs540172506
NM_000051.3(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.3(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.3(ATM):c.9013G>A (p.Val3005Ile) rs1555151745
NM_000051.3(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.3(ATM):c.9016G>A (p.Ala3006Thr) rs876658767
NM_000051.3(ATM):c.9016G>C (p.Ala3006Pro) rs876658767
NM_000051.3(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.3(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.3(ATM):c.9023G>C (p.Arg3008Pro)
NM_000051.3(ATM):c.9026T>G (p.Val3009Gly) rs1565608934
NM_000051.3(ATM):c.9031A>G (p.Met3011Val) rs372795527
NM_000051.3(ATM):c.9032T>G (p.Met3011Arg) rs1555151804
NM_000051.3(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579
NM_000051.3(ATM):c.9042A>T (p.Gln3014His)
NM_000051.3(ATM):c.9043G>A (p.Glu3015Lys)
NM_000051.3(ATM):c.9044A>G (p.Glu3015Gly) rs1565609065
NM_000051.3(ATM):c.9049C>T (p.Leu3017=) rs876658991
NM_000051.3(ATM):c.9050T>C (p.Leu3017Pro) rs786204218
NM_000051.3(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.3(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.3(ATM):c.9068G>T (p.Gly3023Val) rs769548726
NM_000051.3(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.3(ATM):c.9071C>T (p.Thr3024Ile) rs786203183
NM_000051.3(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.3(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.3(ATM):c.9079A>C (p.Ser3027Arg) rs763152094
NM_000051.3(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.3(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.3(ATM):c.9082G>A (p.Val3028Ile) rs876660251
NM_000051.3(ATM):c.9084_9086TGG[1] (p.Gly3030del)
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.3(ATM):c.9088G>A (p.Gly3030Arg) rs879254215
NM_000051.3(ATM):c.9088G>C (p.Gly3030Arg) rs879254215
NM_000051.3(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
NM_000051.3(ATM):c.9089G>T (p.Gly3030Val)
NM_000051.3(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu) rs1555151979
NM_000051.3(ATM):c.9094G>A (p.Val3032Met) rs587779877
NM_000051.3(ATM):c.9094G>C (p.Val3032Leu) rs587779877
NM_000051.3(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.3(ATM):c.9101T>G (p.Leu3034Trp) rs1555151992
NM_000051.3(ATM):c.9102_9103delinsTT (p.Leu3034_Leu3035delinsPhePhe) rs730881308
NM_000051.3(ATM):c.9103C>A (p.Leu3035Ile) rs866769874
NM_000051.3(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000051.3(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.3(ATM):c.9111G>T (p.Gln3037His) rs1555152012
NM_000051.3(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.3(ATM):c.9119T>C (p.Ile3040Thr) rs369870357
NM_000051.3(ATM):c.9128A>G (p.Lys3043Arg) rs867893961
NM_000051.3(ATM):c.9131A>G (p.Asn3044Ser) rs1555152029
NM_000051.3(ATM):c.9131A>T (p.Asn3044Ile) rs1555152029
NM_000051.3(ATM):c.9133C>G (p.Leu3045Val) rs1555152033
NM_000051.3(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.3(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.3(ATM):c.9140G>A (p.Arg3047Gln) rs1047129530
NM_000051.3(ATM):c.9142C>G (p.Leu3048Val) rs876660534
NM_000051.3(ATM):c.9149C>T (p.Pro3050Leu) rs778267979
NM_000051.3(ATM):c.9151G>C (p.Gly3051Arg) rs730881332
NM_000051.3(ATM):c.9152G>A (p.Gly3051Glu)
NM_000051.3(ATM):c.9152G>C (p.Gly3051Ala) rs1555152073
NM_000051.3(ATM):c.9156G>T (p.Trp3052Cys) rs587781711
NM_000051.3(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.3(ATM):c.9160G>A (p.Ala3054Thr) rs1565609869
NM_000051.3(ATM):c.9161C>G (p.Ala3054Gly) rs1555152117
NM_000051.3(ATM):c.9161C>T (p.Ala3054Val) rs1555152117
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.9166del (p.Val3056fs) rs876659234
NM_001351834.2(ATM):c.5763-1050A>G rs774925473

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