ClinVar Miner

List of variants in gene ATM, C11orf65 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 984
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6199-270T>A rs12807529 0.99836
NM_000051.4(ATM):c.7927+142G>A rs227059 0.99735
NM_000051.4(ATM):c.8671+104T>C rs227075 0.62224
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
NM_000051.4(ATM):c.8011-313G>A rs227062 0.53334
NM_000051.4(ATM):c.6807+238G>C rs609429 0.53261
NM_000051.4(ATM):c.7307+177T>G rs186591 0.50871
NM_000051.4(ATM):c.6347+129T>C rs199874977 0.34512
NM_000051.4(ATM):c.6347+127T>C rs200773296 0.30092
NM_000051.4(ATM):c.8010+186C>T rs227060 0.26885
NM_000051.4(ATM):c.8786+189_8786+190insC rs1491290232 0.22140
NM_000051.4(ATM):c.6198+116T>C rs4988084 0.07928
NM_000051.4(ATM):c.7307+217G>A rs117678340 0.06780
NM_000051.4(ATM):c.8786+270G>A rs117970082 0.04812
NM_000051.4(ATM):c.6347+125T>C rs866466121 0.04111
NM_000051.4(ATM):c.8418+78A>G rs11824991 0.03255
NM_000051.4(ATM):c.6573-258A>C rs3092992 0.03198
NM_000051.4(ATM):c.6199-61C>G rs17107917 0.02992
NM_000051.4(ATM):c.6347+133C>T rs7942533 0.02671
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.6573-36C>T rs759869598 0.02433
NM_000051.4(ATM):c.6572+324C>T rs4988095 0.02252
NM_000051.4(ATM):c.8585-229A>T rs55923051 0.01859
NM_000051.4(ATM):c.6198+310G>A rs4988086 0.01787
NM_000051.4(ATM):c.8672-104G>A rs56000155 0.01538
NM_000051.4(ATM):c.7928-95C>A rs3218704 0.01520
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.7515+222G>T rs4988121 0.01331
NM_000051.4(ATM):c.8011-260G>C rs4988134 0.01200
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.6976-71C>T rs3092830 0.01024
NM_000051.4(ATM):c.7308-195T>C rs117162326 0.01010
NM_000051.4(ATM):c.8011-131T>C rs4988135 0.00872
NM_000051.4(ATM):c.7789-272A>G rs147859136 0.00853
NM_000051.4(ATM):c.6348-252T>C rs150757527 0.00842
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.8269-269T>C rs12278194 0.00769
NM_000051.4(ATM):c.6452+303A>G rs4988091 0.00734
NM_000051.4(ATM):c.6573-124T>A rs4988102 0.00726
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.6007-125T>G rs45613232 0.00642
NM_000051.4(ATM):c.*236C>T rs3092834 0.00640
NM_000051.4(ATM):c.6347+305T>C rs77724243 0.00640
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.7629+63A>G rs55772091 0.00572
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.6348-54T>C rs116924981 0.00493
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.6976-272A>G rs368002466 0.00379
NM_000051.4(ATM):c.6976-253T>A rs4988109 0.00340
NM_000051.4(ATM):c.7515+224C>G rs114421859 0.00330
NM_000051.4(ATM):c.6452+251A>G rs182676427 0.00315
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.6007-44G>A rs185700860 0.00300
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.5762+1025T>C rs4988065 0.00267
NM_000051.4(ATM):c.8011-38A>G rs200440370 0.00232
NM_000051.4(ATM):c.8011-174G>C rs55747531 0.00209
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6347+232del rs767828818 0.00099
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.*2607T>C rs879796523 0.00055
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly) rs200441272 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly) rs370567994 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000051.4(ATM):c.7516-32T>G rs372671281 0.00011
NM_000051.4(ATM):c.7789-21T>G rs371070275 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.6572+11C>T rs368049107 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.6095+24C>T rs781167910 0.00006
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser) rs587779853 0.00005
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu) rs778267979 0.00004
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6347+6A>C rs750501197 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.6703A>G (p.Met2235Val) rs768791795 0.00003
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.8419-16_8419-13del rs774275044 0.00003
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) rs587782202 0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val) rs368666328 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6153C>T (p.Leu2051=) rs876658452 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6573-17dup rs1565517900 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile) rs786203764 0.00002
NM_000051.4(ATM):c.7630-3C>T rs587782448 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 0.00002
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg) rs730881324 0.00002
NM_000051.4(ATM):c.8427A>G (p.Gln2809=) rs538173062 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.8797A>G (p.Lys2933Glu) rs587779875 0.00002
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser) rs1485620194 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.9045G>A (p.Glu3015=) rs786203336 0.00002
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr) rs369870357 0.00002
NM_000051.4(ATM):c.*1T>A rs757922166 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg) rs543980602 0.00001
NM_000051.4(ATM):c.5964C>T (p.Ser1988=) rs774260725 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.5994A>T (p.Gly1998=) rs56046250 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=) rs777534711 0.00001
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062 0.00001
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile) rs369349023 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6121A>G (p.Met2041Val) rs759753186 0.00001
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr) rs1000032847 0.00001
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser) rs767939328 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6192C>A (p.Ile2064=) rs876659831 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586 0.00001
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu) rs376898203 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6374A>G (p.His2125Arg) rs730881381 0.00001
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu) rs780299607 0.00001
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu) rs587780635 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6456A>G (p.Val2152=) rs876660014 0.00001
NM_000051.4(ATM):c.6482G>A (p.Arg2161His) rs756626462 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val) rs1064794157 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr) rs374551964 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro) rs1252127806 0.00001
NM_000051.4(ATM):c.6630G>A (p.Gln2210=) rs777515589 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr) rs730881313 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln) rs1158183992 0.00001
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val) rs1365474284 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6942A>C (p.Gln2314His) rs764859160 0.00001
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu) rs1449259481 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro) rs876659392 0.00001
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.7209C>T (p.Asn2403=) rs373662499 0.00001
NM_000051.4(ATM):c.7266G>A (p.Glu2422=) rs876659834 0.00001
NM_000051.4(ATM):c.7289A>G (p.His2430Arg) rs786202856 0.00001
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu) rs864622563 0.00001
NM_000051.4(ATM):c.7314A>C (p.Thr2438=) rs199909913 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys) rs730881318 0.00001
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val) rs587779863 0.00001
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys) rs755418571 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile) rs769722643 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000051.4(ATM):c.7525A>G (p.Met2509Val) rs979101125 0.00001
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe) rs146069748 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu) rs879254136 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp) rs747145967 0.00001
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu) rs864622688 0.00001
NM_000051.4(ATM):c.7620C>A (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7664A>G (p.His2555Arg) rs876658925 0.00001
NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp) rs2086293039 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln) rs1357229307 0.00001
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly) rs750224234 0.00001
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln) rs140263969 0.00001
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly) rs766351395 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7897T>G (p.Leu2633Val) rs587779868 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 0.00001
NM_000051.4(ATM):c.7974T>C (p.Asn2658=) rs777548685 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr) rs1060501566 0.00001
NM_000051.4(ATM):c.8010+5T>A rs56256497 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys) rs786202859 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8199G>A (p.Gln2733=) rs770552705 0.00001
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg) rs779145081 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 0.00001
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=) rs758654836 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val) rs730881323 0.00001
NM_000051.4(ATM):c.8400G>C (p.Gln2800His) rs879253901 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu) rs1060501605 0.00001
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile) rs777648248 0.00001
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala) rs749193688 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val) rs786202223 0.00001
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile) rs730881327 0.00001
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile) rs1064795066 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala) rs730881328 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile) rs772621438 0.00001
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln) rs1060501537 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8820C>T (p.Asn2940=) rs775823407 0.00001
NM_000051.4(ATM):c.8844T>C (p.Ile2948=) rs878853551 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8859A>G (p.Leu2953=) rs773994431 0.00001
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047 0.00001
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr) rs1400589510 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9049C>T (p.Leu3017=) rs876658991 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile) rs786203183 0.00001
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg) rs879254215 0.00001
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu) rs587779877 0.00001
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
GRCh37/hg19 11q22.3(chr11:108206156-108276555)x1
NM_000051.4(ATM):c.*20C>A rs768241804
NM_000051.4(ATM):c.*5del
NM_000051.4(ATM):c.*8T>G rs2091263702
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5763-7T>C rs1555110216
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter) rs1131691254
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.4(ATM):c.5794T>C (p.Phe1932Leu) rs2084025775
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp) rs2084028240
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5900T>C (p.Met1967Thr)
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5919-13T>C rs1555111740
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5947dup (p.Ser1983fs) rs879254271
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.5959T>C (p.Ser1987Pro)
NM_000051.4(ATM):c.5959dup (p.Ser1987fs) rs1555111808
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.4(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer) rs1555111868
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5986G>T (p.Glu1996Ter) rs2084252910
NM_000051.4(ATM):c.5987A>G (p.Glu1996Gly) rs1264932751
NM_000051.4(ATM):c.6006+191_6006+192del rs10588462
NM_000051.4(ATM):c.6006+4_6006+5del rs879254108
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-292G>A rs634268
NM_000051.4(ATM):c.6007-9T>C rs1591776333
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met) rs1591776713
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys) rs375783941
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6055T>A (p.Tyr2019Asn)
NM_000051.4(ATM):c.6059G>T (p.Gly2020Val) rs1591776938
NM_000051.4(ATM):c.6059del (p.Gly2020fs) rs1064794166
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6096-2A>G rs1057520704
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr) rs1060501643
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6126_6127insTTT (p.Trp2042_Gly2043insPhe)
NM_000051.4(ATM):c.6128G>A (p.Gly2043Asp)
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr) rs2084616257
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe) rs1591779081
NM_000051.4(ATM):c.6166C>T (p.Pro2056Ser) rs2084621820
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6198+130G>A rs55982799
NM_000051.4(ATM):c.6198+181dup rs1185696991
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-20_6199-15del rs1360645587
NM_000051.4(ATM):c.6199-20dup rs2084768549
NM_000051.4(ATM):c.6199-255dup rs371678767
NM_000051.4(ATM):c.6199-271_6199-270insA rs113573757
NM_000051.4(ATM):c.6199-271_6199-270insAA rs113573757
NM_000051.4(ATM):c.6199-3del rs762251357
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6204G>T (p.Leu2068Phe) rs2084774223
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala) rs1060501559
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val) rs772608345
NM_000051.4(ATM):c.6253G>T (p.Asp2085Tyr) rs730881379
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.4(ATM):c.6285A>G (p.Leu2095=) rs1555114732
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6295C>G (p.His2099Asp) rs2084787307
NM_000051.4(ATM):c.6298del (p.Tyr2100fs) rs2136167939
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val) rs1591790037
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter) rs867760244
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6345C>T (p.Val2115=) rs2136170779
NM_000051.4(ATM):c.6347+129_6347+138del rs59021047
NM_000051.4(ATM):c.6347+131_6347+136del rs1454446820
NM_000051.4(ATM):c.6347+131_6347+138del rs1365247202
NM_000051.4(ATM):c.6347+214T>A rs117867175
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.6347+94_6347+95del rs1491163038
NM_000051.4(ATM):c.6347+94_6347+99del rs1357553904
NM_000051.4(ATM):c.6347+95TA[15] rs376158749
NM_000051.4(ATM):c.6347+95TA[16] rs376158749
NM_000051.4(ATM):c.6347+95TA[17] rs376158749
NM_000051.4(ATM):c.6347+95TA[18] rs376158749
NM_000051.4(ATM):c.6347+95TA[22] rs376158749
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.4(ATM):c.6355G>C (p.Val2119Leu)
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6357A>G (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6368G>T (p.Ser2123Ile) rs1064794104
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.4(ATM):c.6384del (p.Leu2128fs) rs1555116427
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6406A>G (p.Arg2136Gly)
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs) rs786202323
NM_000051.4(ATM):c.6440T>C (p.Leu2147Pro) rs1591100592
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr) rs730881382
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.6452+1G>C rs1565509194
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6452+9A>C rs771531015
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs) rs1060501707
NM_000051.4(ATM):c.6503C>A (p.Ser2168Ter)
NM_000051.4(ATM):c.6529C>G (p.Gln2177Glu)
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.6550A>T (p.Ser2184Cys) rs764713766
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-15T>G rs2136305758
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42del rs11366542
NM_000051.4(ATM):c.6573-42dup rs11366542
NM_000051.4(ATM):c.6573-43_6573-42del rs11366542
NM_000051.4(ATM):c.6573-43_6573-42dup rs11366542
NM_000051.4(ATM):c.6573-65_6573-62del rs202074417
NM_000051.4(ATM):c.6573-9G>C rs1591128179
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6591A>G (p.Gln2197=) rs863224296
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr) rs1591128462
NM_000051.4(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly) rs730881312
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.4(ATM):c.6656T>C (p.Phe2219Ser) rs1244168959
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6673G>A (p.Ala2225Thr) rs1555119121
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6699C>G (p.Ile2233Met) rs1555119149
NM_000051.4(ATM):c.6726dup (p.Gln2243fs) rs2136314701
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
NM_000051.4(ATM):c.6745del (p.Asp2249fs)
NM_000051.4(ATM):c.6754del (p.Thr2252fs) rs1064793042
NM_000051.4(ATM):c.6755C>T (p.Thr2252Ile)
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu) rs863224578
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) rs863224578
NM_000051.4(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.4(ATM):c.6767T>A (p.Val2256Glu) rs2136317245
NM_000051.4(ATM):c.6767T>C (p.Val2256Ala) rs2136317245
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.4(ATM):c.6807+1G>C
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-6T>G
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.6816A>G (p.Glu2272=) rs1555119726
NM_000051.4(ATM):c.6818G>A (p.Arg2273Lys) rs2136331491
NM_000051.4(ATM):c.6823A>C (p.Ile2275Leu) rs587779857
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser) rs863224579
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer) rs886039701
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met) rs1064795166
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs) rs1064793043
NM_000051.4(ATM):c.6933dup (p.Leu2312fs)
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6975+172_6975+177del rs201063124
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+5_6975+6del rs1064794094
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-19T>C rs1026199027
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6976-71dup rs34424462
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6992A>C (p.Lys2331Thr)
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7001A>G (p.Tyr2334Cys) rs879254258
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer) rs1555120985
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7039_7041dup (p.Glu2347_Thr2348insGlu) rs2085819624
NM_000051.4(ATM):c.7062G>T (p.Ala2354=) rs143489373
NM_000051.4(ATM):c.7065CAT[1] (p.Ile2356del) rs879254220
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.4(ATM):c.7076C>T (p.Thr2359Ile) rs730881314
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7135C>A (p.Leu2379Ile)
NM_000051.4(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.4(ATM):c.7158A>G (p.Ala2386=) rs2136414393
NM_000051.4(ATM):c.7165del (p.Ser2389fs) rs2136414843
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7192T>C (p.Tyr2398His) rs2136416925
NM_000051.4(ATM):c.7200A>C (p.Arg2400Ser) rs1060501534
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7251G>A (p.Leu2417=) rs2136420487
NM_000051.4(ATM):c.7253_7266del (p.Lys2418fs) rs1555122216
NM_000051.4(ATM):c.7272A>G (p.Val2424=) rs2085998058
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7309T>G (p.Tyr2437Asp)
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro) rs587782310
NM_000051.4(ATM):c.7331A>C (p.Glu2444Ala) rs879254245
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.7344T>A (p.Asp2448Glu)
NM_000051.4(ATM):c.7347dup (p.Leu2450fs) rs1555123008
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.4(ATM):c.7408_7410dup (p.Tyr2470_Ile2471insTyr) rs2136457968
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser) rs2136458920
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.4(ATM):c.7475T>A (p.Leu2492His)
NM_000051.4(ATM):c.7491_7499del (p.Ser2498_Val2500del) rs1064796307
NM_000051.4(ATM):c.7499_7502delinsCCAG (p.Val2500_Asn2501delinsAlaSer) rs1555123310
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.7505G>A (p.Gly2502Asp) rs754517317
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7516-9del rs573494809
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7527G>A (p.Met2509Ile) rs1060501579
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7564C>A (p.Gln2522Lys) rs1591167598
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7599A>G (p.Gly2533=) rs2136497122
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-125_7630-122dup rs4988123
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7630-3C>A rs587782448
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7630-7C>A rs730881276
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7675A>G (p.Ile2559Val) rs1156348668
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7699A>T (p.Asn2567Tyr)
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs) rs1064793359
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7710A>C (p.Glu2570Asp)
NM_000051.4(ATM):c.7729G>A (p.Val2577Ile) rs1064795004
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.4(ATM):c.7737AAG[1] (p.Arg2580del) rs1064795204
NM_000051.4(ATM):c.7742G>A (p.Ser2581Asn) rs1064795028
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn) rs730881319
NM_000051.4(ATM):c.7774T>C (p.Ser2592Pro) rs786202025
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-16dup rs776103192
NM_000051.4(ATM):c.7789-19T>C rs560800769
NM_000051.4(ATM):c.7789-328AATT[5] rs4988124
NM_000051.4(ATM):c.7789-328AATT[8] rs4988124
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val) rs779400418
NM_000051.4(ATM):c.7826T>C (p.Ile2609Thr) rs369846067
NM_000051.4(ATM):c.7833T>C (p.Ser2611=) rs2136564372
NM_000051.4(ATM):c.7835G>A (p.Arg2612Lys) rs138048269
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly) rs2086416652
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886T>C (p.Ile2629Thr)
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.7928-10T>G rs188404773
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
NM_000051.4(ATM):c.7934T>G (p.Ile2645Arg)
NM_000051.4(ATM):c.7942C>G (p.Pro2648Ala) rs878853547
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8010+116_8010+117del rs4988128
NM_000051.4(ATM):c.8010+252del rs4988129
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8011-5A>G
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8027A>G (p.Glu2676Gly)
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8041G>A (p.Val2681Met) rs1064795034
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro) rs730881320
NM_000051.4(ATM):c.8045C>T (p.Thr2682Ile)
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.4(ATM):c.8077_8094del (p.Ala2693_Leu2698del) rs2136658658
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala) rs1060501680
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8118T>C (p.Gly2706=) rs1057520990
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8130G>T (p.Lys2710Asn)
NM_000051.4(ATM):c.8137_8138insC (p.Arg2713fs) rs2086690343
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr) rs876659351
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val) rs1555128280
NM_000051.4(ATM):c.8168G>T (p.Arg2723Ile) rs1555128301
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8199G>C (p.Gln2733His) rs770552705
NM_000051.4(ATM):c.8202dup (p.Cys2735fs) rs2136695766
NM_000051.4(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser) rs2086800136
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8266A>G (p.Lys2756Glu) rs371638537
NM_000051.4(ATM):c.8268+195del rs374306537
NM_000051.4(ATM):c.8268+195dup rs374306537
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe) rs758609900
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8297T>G (p.Val2766Gly) rs1064796249
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.4(ATM):c.8300T>G (p.Leu2767Arg) rs1591247825
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8308T>C (p.Cys2770Arg) rs749737164
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8364T>G (p.His2788Gln) rs1591248749
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8376G>T (p.Arg2792Ser) rs2136950175
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8486C>A (p.Pro2829Gln) rs938431501
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.4(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.4(ATM):c.8525C>G (p.Pro2842Arg) rs879254065
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle) rs1555138275
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu) rs1591265229
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000051.4(ATM):c.8554T>C (p.Tyr2852His) rs1064794108
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8560C>G (p.Arg2854Gly) rs201958469
NM_000051.4(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.4(ATM):c.8564del (p.Ser2855fs) rs886039643
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8584+3A>G
NM_000051.4(ATM):c.8585-13_8598del rs1555139443
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter) rs1057520672
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8656_8658delinsATT (p.Val2886Ile) rs786202067
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8674G>A (p.Val2892Ile) rs1064793425
NM_000051.4(ATM):c.8695del (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln) rs1591306697
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8737G>C (p.Asp2913His) rs756899044
NM_000051.4(ATM):c.8758A>G (p.Ile2920Val) rs1555142880
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8778C>T (p.Val2926=) rs1430419604
NM_000051.4(ATM):c.8786+190_8786+191del rs141328711
NM_000051.4(ATM):c.8786+190_8786+191insC rs2089570249
NM_000051.4(ATM):c.8786+190_8786+193del rs749741352
NM_000051.4(ATM):c.8786+190_8786+195del rs200076664
NM_000051.4(ATM):c.8786+190_8786+197del rs1379004351
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8786+2dup rs1565579654
NM_000051.4(ATM):c.8786+90G>A rs179108
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8821T>C (p.Ser2941Pro) rs1555143549
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8833C>T (p.Leu2945=) rs786203505
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.8851-10_8851-7del rs1591384042
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8851G>C (p.Val2951Leu) rs1555151205
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8869C>G (p.Leu2957Val) rs2137872203
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer) rs2091200503
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8917A>G (p.Arg2973Gly) rs1555151352
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer) rs1064795675
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8955T>A (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln) rs1800558
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8988-13T>C rs756571175
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9007A>G (p.Asn3003Asp) rs1137889
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) rs1555151827
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.4(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.4(ATM):c.9075G>A (p.Val3025=) rs1591387520
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.4(ATM):c.9102_9103delinsTT (p.Leu3034_Leu3035delinsPhePhe) rs730881308
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9151G>C (p.Gly3051Arg) rs730881332
NM_000051.4(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_001330368.2(C11orf65):c.641-34150del rs1555135341

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.