ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 818
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HGVS dbSNP
NM_000051.3(ATM):c.*16T>G rs1362987304
NM_000051.3(ATM):c.*17T>G rs746451875
NM_000051.3(ATM):c.*19C>T rs1338371572
NM_000051.3(ATM):c.*9del rs1565609967
NM_000051.3(ATM):c.5763-5T>C rs1555110219
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.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.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.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.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.3(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
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.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.5892G>C (p.Lys1964Asn) rs786202728
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.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.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.3(ATM):c.5919-10T>C rs1565493312
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.5956A>G (p.Ile1986Val) rs876660935
NM_000051.3(ATM):c.5971G>A (p.Glu1991Lys) rs786203404
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.5983G>A (p.Glu1995Lys) rs1555111886
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.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.3(ATM):c.6006+6T>C rs1565493858
NM_000051.3(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
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.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.3(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
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.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.3(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.3(ATM):c.6095+5del rs1555113628
NM_000051.3(ATM):c.6096-3T>C rs748380897
NM_000051.3(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
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.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.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.3(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.3(ATM):c.6121A>G (p.Met2041Val) rs759753186
NM_000051.3(ATM):c.6123G>T (p.Met2041Ile) rs1555113740
NM_000051.3(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
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.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.6188G>C (p.Gly2063Ala) rs866290641
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+3A>G rs786202092
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.6199-5T>A rs1555114533
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.6217C>T (p.Leu2073Phe) rs767406075
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.6232T>C (p.Ser2078Pro) rs587779854
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.6247G>A (p.Gly2083Arg) rs1060501586
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.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.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.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.6304G>A (p.Ala2102Thr) 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>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.6332A>G (p.His2111Arg) rs876658300
NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
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.6348-3C>T rs946541820
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6367A>G (p.Ser2123Gly) rs876659773
NM_000051.3(ATM):c.6373C>T (p.His2125Tyr) rs1201879809
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.6383T>C (p.Leu2128Ser) rs1565508867
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.6400T>C (p.Ser2134Pro) rs758446561
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.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>G (p.Lys2148Arg) rs730881382
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.6473T>C (p.Met2158Thr) rs1453101465
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.6482G>A (p.Arg2161His) rs756626462
NM_000051.3(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
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>T (p.Leu2169Phe) rs1064794157
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.6522C>A (p.Ser2174Arg) rs772850740
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.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.6554T>C (p.Ile2185Thr) rs779611511
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.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.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.6633_6634delinsAA (p.Leu2212Ile) rs1555119055
NM_000051.3(ATM):c.6650T>A (p.Phe2217Tyr) rs876659101
NM_000051.3(ATM):c.6652A>C (p.Ser2218Arg) rs749261367
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>G (p.Met2224Val) rs545873723
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.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.3(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.3(ATM):c.6703A>G (p.Met2235Val) rs768791795
NM_000051.3(ATM):c.6718G>C (p.Asp2240His) rs587782478
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.6745G>T (p.Asp2249Tyr) rs1555119235
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.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.3(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602
NM_000051.3(ATM):c.6764T>G (p.Leu2255Arg) rs876658966
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.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.3(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
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>G (p.Glu2272Gly) rs1565520129
NM_000051.3(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
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.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.6860G>A (p.Gly2287Glu) rs1800061
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.6889C>G (p.Gln2297Glu) rs1565520537
NM_000051.3(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
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.6923C>T (p.Ala2308Val) rs876658454
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.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.3(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.3(ATM):c.6965G>T (p.Ser2322Ile) rs876659183
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+5G>T rs575354684
NM_000051.3(ATM):c.6975+5del rs1442949382
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.6980A>T (p.Asn2327Ile) rs761587154
NM_000051.3(ATM):c.6982C>A (p.Pro2328Thr) rs769606850
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.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.3(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
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.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.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.7066A>T (p.Ile2356Phe) rs876658517
NM_000051.3(ATM):c.7071G>T (p.Met2357Ile) rs753951063
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.7090-7C>T rs774223576
NM_000051.3(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
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.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.7135C>G (p.Leu2379Val) rs778888033
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.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.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.7199G>T (p.Arg2400Ile) rs567457294
NM_000051.3(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
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>C (p.Phe2410Ser) rs758351633
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.7261A>G (p.Lys2421Glu) rs1555122220
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.7269A>T (p.Glu2423Asp) rs864622471
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>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.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.3(ATM):c.7306A>G (p.Arg2436Gly) rs1555122335
NM_000051.3(ATM):c.7307+1_7307+3dup rs1565527496
NM_000051.3(ATM):c.7307+3_7307+4insGTTC rs587782288
NM_000051.3(ATM):c.7307+4A>G rs730881316
NM_000051.3(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.3(ATM):c.7308-10T>C rs745319720
NM_000051.3(ATM):c.7308-11T>C rs1565529149
NM_000051.3(ATM):c.7308-7A>G rs1476284330
NM_000051.3(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
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.7328G>A (p.Arg2443Gln) rs587782310
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.7337A>G (p.Glu2446Gly) rs1555122998
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.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.3(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
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.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.3(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
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.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.3(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
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.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
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.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119
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.7492T>G (p.Ser2498Ala) rs754245181
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>T (p.Met2503Leu) rs780931855
NM_000051.3(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.3(ATM):c.7515+19A>T rs879254202
NM_000051.3(ATM):c.7516-4G>T rs876660105
NM_000051.3(ATM):c.7516A>G (p.Arg2506Gly) rs200441272
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.7531A>T (p.Ile2511Phe) rs146069748
NM_000051.3(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
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.7559T>G (p.Met2520Arg) rs587782692
NM_000051.3(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
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.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.3(ATM):c.7629+3A>C rs752251778
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_7630-2del 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.7648A>G (p.Met2550Val) rs878853545
NM_000051.3(ATM):c.7654C>A (p.His2552Asn) rs786202174
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.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.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.7696G>A (p.Ala2566Thr) rs1060501604
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.7732G>C (p.Ala2578Pro) rs1555124632
NM_000051.3(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
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.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.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.7788+3A>T rs869312788
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.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.7826T>C (p.Ile2609Thr) rs369846067
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.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.3(ATM):c.7865C>G (p.Ala2622Gly) rs766351395
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>G (p.Ile2628Val) rs587781370
NM_000051.3(ATM):c.7887A>G (p.Ile2629Met) rs752886000
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>C rs1299306446
NM_000051.3(ATM):c.7927+5del rs786204437
NM_000051.3(ATM):c.7927A>G (p.Lys2643Glu) rs587782487
NM_000051.3(ATM):c.7928-3C>T rs1555126153
NM_000051.3(ATM):c.7928-4A>C rs876658629
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.7946C>T (p.Ala2649Val) rs876660877
NM_000051.3(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
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.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.3(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.7996A>G (p.Thr2666Ala) rs745775382
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.8010+5T>A rs56256497
NM_000051.3(ATM):c.8010+5T>G rs56256497
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.8026G>A (p.Glu2676Lys) rs786202859
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.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.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.8080G>A (p.Gly2694Arg) rs1555127157
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.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.3(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.3(ATM):c.8105T>G (p.Ile2702Arg) rs876659735
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.8120C>G (p.Ser2707Cys) rs748016261
NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
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>G (p.Gln2714Glu) rs1060501695
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.8152-8T>G rs752705487
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.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.8169A>T (p.Arg2723Ser) rs780495319
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.8187A>C (p.Gln2729His) 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.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.3(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.3(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608
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.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.8254A>G (p.Ile2752Val) rs1215163673
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.8267A>G (p.Lys2756Arg) rs1555128635
NM_000051.3(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.3(ATM):c.8269-10_8269-9del rs587780641
NM_000051.3(ATM):c.8269-18_8269-15del 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.8272G>T (p.Val2758Phe) rs1555135373
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.8288G>A (p.Arg2763Gln) rs551411717
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.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.3(ATM):c.8302G>A (p.Glu2768Lys) rs1555135513
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.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.8363A>C (p.His2788Pro) rs1555135716
NM_000051.3(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.3(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.3(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.3(ATM):c.8389A>G (p.Ser2797Gly)
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.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.8419-7_8419-4del 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.8428A>C (p.Lys2810Gln) rs730881325
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.8435C>G (p.Ser2812Cys) rs1565563280
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.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678
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.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.8495G>A (p.Arg2832His) rs529296539
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.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.3(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
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.8530A>C (p.Ile2844Leu) rs756230327
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.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.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.8584+4A>G rs1555138484
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.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.3(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.3(ATM):c.8617G>A (p.Val2873Ile) rs730881327
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>C (p.Leu2877Phe) rs1064794840
NM_000051.3(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.3(ATM):c.8656_8658delinsATT (p.Val2886Ile) rs786202067
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.8671+4A>G rs876660652
NM_000051.3(ATM):c.8672G>A (p.Gly2891Asp) rs748192003
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.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.8734A>G (p.Arg2912Gly) rs376676328
NM_000051.3(ATM):c.8737G>C (p.Asp2913His) rs756899044
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.8752A>T (p.Met2918Leu) rs1555142873
NM_000051.3(ATM):c.8758A>G (p.Ile2920Val) rs1555142880
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.8768T>A (p.Val2923Asp) rs786203055
NM_000051.3(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
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.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.8797A>G (p.Lys2933Glu) rs587779875
NM_000051.3(ATM):c.8800A>G (p.Thr2934Ala) rs746351323
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.8833C>G (p.Leu2945Val) rs786203505
NM_000051.3(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
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+5A>C rs1057522186
NM_000051.3(ATM):c.8851-3T>G rs748874219
NM_000051.3(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
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.8878T>C (p.Trp2960Arg) rs1064794739
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.8915A>G (p.Gln2972Arg) rs763773991
NM_000051.3(ATM):c.8917A>G (p.Arg2973Gly) rs1555151352
NM_000051.3(ATM):c.8920C>A (p.Pro2974Thr) rs984616023
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
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.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>T (p.Asp2987Tyr) rs863224582
NM_000051.3(ATM):c.8965C>G (p.Gln2989Glu) rs147695170
NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) rs1800558
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+3G>A rs56360226
NM_000051.3(ATM):c.8987+5G>C rs876660570
NM_000051.3(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
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.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.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.9022C>G (p.Arg3008Gly) rs587782292
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.9050T>C (p.Leu3017Pro) rs786204218
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>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.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
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.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.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.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.9156G>T (p.Trp3052Cys) rs587781711
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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