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: 1872
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
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.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.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.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.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 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.6572+11C>T rs368049107 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.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.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 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.9031A>G (p.Met3011Val) rs372795527 0.00005
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.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 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.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.6199-3T>C rs1318760213 0.00003
NM_000051.4(ATM):c.6550A>G (p.Ser2184Gly) rs764713766 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.7213A>G (p.Met2405Val) rs587781323 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7658C>A (p.Pro2553His) rs864622368 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 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.9050T>C (p.Leu3017Pro) rs786204218 0.00003
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val) rs758038580 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.7739G>A (p.Arg2580Lys) rs761790685 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.7929A>T (p.Lys2643Asn) rs780247224 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.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg) rs730881324 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.8797A>G (p.Lys2933Glu) rs587779875 0.00002
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser) rs1485620194 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.*13G>C rs1296955906 0.00001
NM_000051.4(ATM):c.*17T>G rs746451875 0.00001
NM_000051.4(ATM):c.*20C>T rs768241804 0.00001
NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala) rs781448339 0.00001
NM_000051.4(ATM):c.5786A>G (p.Asn1929Ser) rs756661278 0.00001
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser) rs1286443989 0.00001
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu) rs779692309 0.00001
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg) rs746676271 0.00001
NM_000051.4(ATM):c.5852A>C (p.His1951Pro) rs1164569755 0.00001
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn) rs587782503 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.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser) rs780867575 0.00001
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp) rs945198632 0.00001
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg) rs786203765 0.00001
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg) rs543980602 0.00001
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys) rs770722380 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val) rs1188125296 0.00001
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala) rs762001297 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062 0.00001
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser) rs35991214 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile) rs369349023 0.00001
NM_000051.4(ATM):c.6095+5A>G rs757328753 0.00001
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala) rs876659555 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.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala) rs1183544857 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.6244A>G (p.Lys2082Glu) rs1239942908 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.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6296A>G (p.His2099Arg) rs587782802 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala) rs1555114835 0.00001
NM_000051.4(ATM):c.6348-3C>T rs946541820 0.00001
NM_000051.4(ATM):c.6348-5C>A rs1388651064 0.00001
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser) rs1555116369 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr) rs1201879809 0.00001
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu) rs780299607 0.00001
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly) rs752069869 0.00001
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys) rs1297621371 0.00001
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu) rs587780635 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.6517C>T (p.Leu2173Phe) rs1565511354 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.6629A>C (p.Gln2210Pro) rs1252127806 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6670A>G (p.Met2224Val) rs545873723 0.00001
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr) rs730881313 0.00001
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln) rs1158183992 0.00001
NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr) rs35118109 0.00001
NM_000051.4(ATM):c.6724T>C (p.Ser2242Pro) rs1309164461 0.00001
NM_000051.4(ATM):c.6736T>G (p.Cys2246Gly) rs767070729 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.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val) rs1365474284 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.6808-13A>G rs1410228904 0.00001
NM_000051.4(ATM):c.6831A>C (p.Gln2277His) rs1339794219 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.6868G>A (p.Glu2290Lys) rs1479339581 0.00001
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile) rs1204077610 0.00001
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg) rs1297586575 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.6942A>C (p.Gln2314His) rs764859160 0.00001
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr) rs1555120006 0.00001
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr) rs750285816 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.6975+5del rs1442949382 0.00001
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile) rs761587154 0.00001
NM_000051.4(ATM):c.6982C>T (p.Pro2328Ser) rs769606850 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr) rs1223489931 0.00001
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met) rs757293178 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 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.7189C>G (p.Gln2397Glu) rs747372355 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 0.00001
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr) rs745440761 0.00001
NM_000051.4(ATM):c.7228T>C (p.Phe2410Leu) rs193302874 0.00001
NM_000051.4(ATM):c.7264G>A (p.Glu2422Lys) rs1163371592 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.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn) rs751537332 0.00001
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala) rs765548443 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.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile) rs769722643 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe) rs759728261 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119 0.00001
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala) rs754245181 0.00001
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly) rs1224705805 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531 0.00001
NM_000051.4(ATM):c.7516-15T>G rs1400642000 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.7535C>T (p.Pro2512Leu) rs1237858258 0.00001
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys) rs774312539 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.7598G>A (p.Gly2533Glu) rs864622688 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7648A>G (p.Met2550Val) rs878853545 0.00001
NM_000051.4(ATM):c.7656C>A (p.His2552Gln) rs1555124473 0.00001
NM_000051.4(ATM):c.7664A>G (p.His2555Arg) rs876658925 0.00001
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val) rs1208002418 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.7727A>G (p.Glu2576Gly) rs1202657573 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.7843C>G (p.Gln2615Glu) rs773159296 0.00001
NM_000051.4(ATM):c.7847T>C (p.Met2616Thr) rs762765902 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.7902T>G (p.Asp2634Glu) rs373147078 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 0.00001
NM_000051.4(ATM):c.7927+4T>C rs1335862267 0.00001
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val) rs876660877 0.00001
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val) rs747448699 0.00001
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe) rs747448699 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr) rs1060501566 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.8047A>G (p.Ile2683Val) rs587781344 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu) rs758588019 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.8175T>A (p.Asp2725Glu) rs1431188311 0.00001
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu) rs1183442138 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.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg) rs779145081 0.00001
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val) rs1215163673 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 0.00001
NM_000051.4(ATM):c.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val) rs758609900 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala) rs2087819658 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 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.8437T>C (p.Phe2813Leu) rs1280239284 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8461A>G (p.Met2821Val) rs876660081 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 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.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.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val) rs1555138472 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.8624A>C (p.Asn2875Thr) rs587782451 0.00001
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile) rs1064795066 0.00001
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly) rs876658236 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.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met) rs587782264 0.00001
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu) rs1555142873 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8800A>G (p.Thr2934Ala) rs746351323 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.8848G>A (p.Glu2950Lys) rs898091069 0.00001
NM_000051.4(ATM):c.8850+3A>G rs769427492 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 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.8889T>A (p.Asn2963Lys) rs1476881353 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile) rs786203721 0.00001
NM_000051.4(ATM):c.8948C>A (p.Thr2983Asn) rs1472935232 0.00001
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met) rs747445236 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln) rs587778081 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val) rs1319582645 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9043G>C (p.Glu3015Gln) rs1591387120 0.00001
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu) rs1386313592 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.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.*16T>G rs1362987304
NM_000051.4(ATM):c.*19C>T rs1338371572
NM_000051.4(ATM):c.*5C>A
NM_000051.4(ATM):c.*9del rs1565609967
NM_000051.4(ATM):c.5763-13C>G rs1057522554
NM_000051.4(ATM):c.5763-3T>C
NM_000051.4(ATM):c.5763-5T>C rs1555110219
NM_000051.4(ATM):c.5763-5T>G rs1555110219
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr) rs587781865
NM_000051.4(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu) rs876658831
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg) rs1591745423
NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu) rs755055090
NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala) rs755055090
NM_000051.4(ATM):c.5774G>T (p.Gly1925Val) rs755055090
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.5784T>A (p.Phe1928Leu) rs1290871799
NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile) rs756661278
NM_000051.4(ATM):c.5789A>G (p.Asp1930Gly) rs2084024488
NM_000051.4(ATM):c.5790T>G (p.Asp1930Glu)
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys) rs1591745679
NM_000051.4(ATM):c.5801T>A (p.Leu1934Gln) rs1591745717
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)
NM_000051.4(ATM):c.5809A>T (p.Asn1937Tyr)
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn) rs786203668
NM_000051.4(ATM):c.5816T>A (p.Leu1939Gln) rs1555110340
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp) rs2084028240
NM_000051.4(ATM):c.5822T>C (p.Val1941Ala)
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr) rs1286443989
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val) rs1356309376
NM_000051.4(ATM):c.5839T>A (p.Ser1947Thr) rs1591746011
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr) rs1591746066
NM_000051.4(ATM):c.5849C>T (p.Ala1950Val) rs1591746083
NM_000051.4(ATM):c.5851C>T (p.His1951Tyr) rs1060501673
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile) rs1555110421
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala) rs2084033441
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5860G>C (p.Ala1954Pro) rs1591746248
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.4(ATM):c.5866C>G (p.Leu1956Val) rs1565489956
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.4(ATM):c.5866_5867insACTATGCAGAAA (p.Leu1956delinsHisTyrAlaGluIle) rs1591746305
NM_000051.4(ATM):c.5867T>A (p.Leu1956His) rs876658989
NM_000051.4(ATM):c.5870A>C (p.Tyr1957Ser) rs1591746364
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val) rs2136017305
NM_000051.4(ATM):c.5875G>A (p.Glu1959Lys)
NM_000051.4(ATM):c.5875G>C (p.Glu1959Gln)
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
NM_000051.4(ATM):c.5878A>T (p.Ile1960Phe)
NM_000051.4(ATM):c.5880C>G (p.Ile1960Met) rs1555110464
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5887G>C (p.Asp1963His) rs864622148
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg) rs1555110503
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn) rs1565490147
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn) rs1555110520
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.4(ATM):c.5914A>C (p.Lys1972Gln) rs1060501652
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5917A>C (p.Arg1973=) rs786202089
NM_000051.4(ATM):c.5918+5T>G
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr) rs2084241683
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
NM_000051.4(ATM):c.5946G>C (p.Gln1982His)
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg) rs770722380
NM_000051.4(ATM):c.5951C>T (p.Thr1984Ile)
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.4(ATM):c.5954C>G (p.Thr1985Ser)
NM_000051.4(ATM):c.5956A>C (p.Ile1986Leu)
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.5959T>C (p.Ser1987Pro)
NM_000051.4(ATM):c.5966T>C (p.Leu1989Ser)
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg) rs1275100503
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg) rs150757822
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile) rs1406659883
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)
NM_000051.4(ATM):c.5981A>G (p.Lys1994Arg) rs1591758782
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.4(ATM):c.5986G>A (p.Glu1996Lys)
NM_000051.4(ATM):c.5987A>G (p.Glu1996Gly) rs1264932751
NM_000051.4(ATM):c.5988A>C (p.Glu1996Asp) rs1591758852
NM_000051.4(ATM):c.5988A>T (p.Glu1996Asp) rs1591758852
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro) rs1591758871
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val) rs1201228506
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys) rs2136063107
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile) rs775921052
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg) rs1591759049
NM_000051.4(ATM):c.6006+4_6006+5del rs879254108
NM_000051.4(ATM):c.6006+6T>C rs1565493858
NM_000051.4(ATM):c.6007-5T>C rs863224294
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu) rs878853526
NM_000051.4(ATM):c.6010C>T (p.Leu2004Phe) rs1060501561
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.4(ATM):c.6013C>A (p.Leu2005Ile)
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val) rs1555113531
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp) rs1555113549
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr) rs876660227
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys) rs2136118434
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met) rs1591776713
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg) rs2084587881
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys) rs375783941
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.4(ATM):c.6051T>A (p.Ser2017Arg)
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser) rs755694394
NM_000051.4(ATM):c.6054G>T (p.Leu2018Phe)
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His) rs1591776885
NM_000051.4(ATM):c.6056A>T (p.Tyr2019Phe)
NM_000051.4(ATM):c.6059G>A (p.Gly2020Asp) rs1591776938
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg) rs1591776961
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp) rs1591777028
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg) rs1565499041
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn) rs1591777158
NM_000051.4(ATM):c.6076A>G (p.Met2026Val)
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.4(ATM):c.6085C>T (p.Pro2029Ser) rs2136121608
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu) rs863224575
NM_000051.4(ATM):c.6088A>C (p.Ile2030Leu) rs145847315
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro) rs1591777327
NM_000051.4(ATM):c.6091A>T (p.Thr2031Ser)
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6096-3T>A rs748380897
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser) rs1591778359
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val) rs769813736
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile) rs2136127153
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly) rs2084612043
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>A (p.His2038Gln) rs774993357
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.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.4(ATM):c.6118G>A (p.Ala2040Thr)
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu) rs1299506506
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile) rs1555113740
NM_000051.4(ATM):c.6123G>T (p.Met2041Ile) rs1555113740
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val) rs753384717
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr) rs2084616257
NM_000051.4(ATM):c.6134C>T (p.Ala2045Val)
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile) rs1591778897
NM_000051.4(ATM):c.6139G>C (p.Val2047Leu) rs1591778897
NM_000051.4(ATM):c.6140T>A (p.Val2047Glu) rs878853528
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly) rs878853528
NM_000051.4(ATM):c.6144_6146del (p.Tyr2049del) rs1591778969
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6145_6147delinsAAA (p.Tyr2049Lys) rs1591779011
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys) rs1233757467
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile) rs1591779081
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly) rs1591779138
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg) rs2136130260
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.4(ATM):c.6169TCA[1] (p.Ser2058del) rs1555113809
NM_000051.4(ATM):c.6173C>T (p.Ser2058Leu) rs1555113821
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala) rs1329479941
NM_000051.4(ATM):c.6176C>A (p.Thr2059Lys) rs144761622
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.4(ATM):c.6178C>G (p.Arg2060Gly)
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6179G>T (p.Arg2060Leu) rs376521407
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro) rs1591779456
NM_000051.4(ATM):c.6188G>C (p.Gly2063Ala) rs866290641
NM_000051.4(ATM):c.6188G>T (p.Gly2063Val) rs866290641
NM_000051.4(ATM):c.6190A>T (p.Ile2064Phe)
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu) rs1361215494
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.4(ATM):c.6198+3A>C rs786202092
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198G>A (p.Gln2066=) rs786203341
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-3T>A
NM_000051.4(ATM):c.6199-3del rs762251357
NM_000051.4(ATM):c.6199-5T>A rs1555114533
NM_000051.4(ATM):c.6199-5_6199-1dup rs1591788826
NM_000051.4(ATM):c.6199G>A (p.Ala2067Thr) rs1555114549
NM_000051.4(ATM):c.6199G>T (p.Ala2067Ser) rs1555114549
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu) rs1555114563
NM_000051.4(ATM):c.6206A>G (p.Gln2069Arg) rs1591789003
NM_000051.4(ATM):c.6211T>G (p.Leu2071Val) rs928129862
NM_000051.4(ATM):c.6213G>T (p.Leu2071Phe)
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.4(ATM):c.6215G>A (p.Gly2072Glu) rs1183544857
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6223C>T (p.His2075Tyr) rs2136163717
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile) rs1591789195
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) rs786204173
NM_000051.4(ATM):c.6235G>C (p.Val2079Leu)
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.6254A>T (p.Asp2085Val) rs2136165263
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys) rs730881380
NM_000051.4(ATM):c.6259G>A (p.Glu2087Lys)
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6262A>G (p.Asn2088Asp) rs1205444700
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn) rs863224577
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr) rs915524411
NM_000051.4(ATM):c.6270C>A (p.Asp2090Glu) rs1565503097
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly) rs2084784301
NM_000051.4(ATM):c.6274T>G (p.Cys2092Gly) rs1555114711
NM_000051.4(ATM):c.6275G>C (p.Cys2092Ser)
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys) rs1565503182
NM_000051.4(ATM):c.6283C>A (p.Leu2095Ile)
NM_000051.4(ATM):c.6283C>G (p.Leu2095Val) rs2084785926
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.4(ATM):c.6286GAA[1] (p.Glu2097del)
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.4(ATM):c.6288A>C (p.Glu2096Asp)
NM_000051.4(ATM):c.6289G>C (p.Glu2097Gln) rs1555114737
NM_000051.4(ATM):c.6291A>T (p.Glu2097Asp) rs1555114739
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6293T>G (p.Leu2098Arg) rs587780631
NM_000051.4(ATM):c.6293_6295del (p.Leu2098del)
NM_000051.4(ATM):c.6298T>C (p.Tyr2100His) rs1555114752
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys) rs876660164
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu) rs876660164
NM_000051.4(ATM):c.6303A>C (p.Gln2101His) rs876659325
NM_000051.4(ATM):c.6304G>A (p.Ala2102Thr) rs1565503340
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro) rs1565503340
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val) rs1591790037
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
NM_000051.4(ATM):c.6313A>T (p.Arg2105Trp) rs879253983
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.4(ATM):c.6319A>G (p.Met2107Val)
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro) rs773891864
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.4(ATM):c.6323A>T (p.Gln2108Leu) rs773891864
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6327G>T (p.Trp2109Cys)
NM_000051.4(ATM):c.6328G>A (p.Asp2110Asn)
NM_000051.4(ATM):c.6328G>C (p.Asp2110His) rs2136169784
NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu) rs759029705
NM_000051.4(ATM):c.6331C>T (p.His2111Tyr)
NM_000051.4(ATM):c.6332A>C (p.His2111Pro) rs876658300
NM_000051.4(ATM):c.6332A>T (p.His2111Leu)
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr) rs1591790425
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6347+3A>G rs1555114854
NM_000051.4(ATM):c.6348-4A>G rs1591099510
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-8T>G rs730881292
NM_000051.4(ATM):c.6348-989del
NM_000051.4(ATM):c.6348C>G (p.Ser2116Arg) rs1591099608
NM_000051.4(ATM):c.6353A>T (p.Glu2118Val) rs2136218659
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6368G>A (p.Ser2123Asn)
NM_000051.4(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.4(ATM):c.6376G>A (p.Glu2126Lys) rs1555116399
NM_000051.4(ATM):c.6376G>C (p.Glu2126Gln)
NM_000051.4(ATM):c.6380C>T (p.Ser2127Leu) rs2136219729
NM_000051.4(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser) rs2136220181
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6395T>G (p.Leu2132Arg)
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
NM_000051.4(ATM):c.6401C>A (p.Ser2134Tyr)
NM_000051.4(ATM):c.6401C>G (p.Ser2134Cys) rs2136220770
NM_000051.4(ATM):c.6403C>G (p.Leu2135Val) rs2085083391
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro) rs1591100266
NM_000051.4(ATM):c.6409G>A (p.Asp2137Asn) rs1389038955
NM_000051.4(ATM):c.6409G>C (p.Asp2137His) rs1389038955
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.4(ATM):c.6422C>G (p.Ser2141Cys)
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.4(ATM):c.6434A>C (p.Glu2145Ala) rs1255710647
NM_000051.4(ATM):c.6434A>G (p.Glu2145Gly) rs1255710647
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly) rs2136222103
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6439C>G (p.Leu2147Val)
NM_000051.4(ATM):c.6440T>C (p.Leu2147Pro) rs1591100592
NM_000051.4(ATM):c.6440T>G (p.Leu2147Arg)
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.6448G>A (p.Ala2150Thr) rs1591100678
NM_000051.4(ATM):c.6452+6A>T rs878853531
NM_000051.4(ATM):c.6453-14T>A rs1380071831
NM_000051.4(ATM):c.6453-3T>A rs768073845
NM_000051.4(ATM):c.6453-3T>C rs768073845
NM_000051.4(ATM):c.6453-4C>G rs2085189849
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6453A>C (p.Arg2151Ser)
NM_000051.4(ATM):c.6453A>T (p.Arg2151Ser)
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile) rs753158040
NM_000051.4(ATM):c.6457A>C (p.Lys2153Gln) rs1386239935
NM_000051.4(ATM):c.6460G>C (p.Glu2154Gln)
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val) rs2136238562
NM_000051.4(ATM):c.6463G>T (p.Val2155Leu)
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly) rs1591106982
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.4(ATM):c.6475T>A (p.Cys2159Ser)
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
NM_000051.4(ATM):c.6476G>A (p.Cys2159Tyr) rs1591107053
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly) rs2085194212
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val) rs1591107130
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg) rs779742477
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala) rs1591107186
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)
NM_000051.4(ATM):c.6505C>T (p.Leu2169Phe) rs1064794157
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.4(ATM):c.6508T>C (p.Tyr2170His) rs587782327
NM_000051.4(ATM):c.6515C>T (p.Thr2172Ile)
NM_000051.4(ATM):c.6518T>C (p.Leu2173Pro)
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)
NM_000051.4(ATM):c.6519T>C (p.Leu2173=)
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6522C>G (p.Ser2174Arg)
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys) rs1555117188
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met) rs1555117188
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.4(ATM):c.6530A>G (p.Gln2177Arg) rs1060501573
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val) rs2136241829
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly) rs2085203449
NM_000051.4(ATM):c.6543G>C (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6545T>C (p.Leu2182Pro) rs1555117233
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe) rs2085205198
NM_000051.4(ATM):c.6554T>A (p.Ile2185Asn) rs779611511
NM_000051.4(ATM):c.6557_6559del (p.Gly2186del) rs1555117257
NM_000051.4(ATM):c.6558G>T (p.Gly2186=) rs1555117263
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6562C>G (p.Leu2188Val)
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+1523dup
NM_000051.4(ATM):c.6572+4T>G
NM_000051.4(ATM):c.6572+6T>C rs2085208105
NM_000051.4(ATM):c.6572G>T (p.Arg2191Ile)
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-13T>C rs530565990
NM_000051.4(ATM):c.6573-23_6573-5del
NM_000051.4(ATM):c.6573-3C>G
NM_000051.4(ATM):c.6573-5T>C
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.4(ATM):c.6581C>A (p.Thr2194Lys)
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile) rs1476384636
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6584A>C (p.His2195Pro) rs1565518051
NM_000051.4(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.4(ATM):c.6585T>A (p.His2195Gln)
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro) rs1412850323
NM_000051.4(ATM):c.6592C>A (p.Leu2198Ile)
NM_000051.4(ATM):c.6593T>A (p.Leu2198His)
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr) rs1591128462
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala) rs876658435
NM_000051.4(ATM):c.6605A>G (p.Tyr2202Cys)
NM_000051.4(ATM):c.6610A>C (p.Lys2204Gln) rs2085553991
NM_000051.4(ATM):c.6613T>C (p.Trp2205Arg) rs755656958
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu) rs2085554912
NM_000051.4(ATM):c.6618G>C (p.Gln2206His) rs2085555121
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6624C>A (p.His2208Gln) rs2136309199
NM_000051.4(ATM):c.6625T>A (p.Ser2209Thr)
NM_000051.4(ATM):c.6626C>G (p.Ser2209Cys)
NM_000051.4(ATM):c.6629A>G (p.Gln2210Arg)
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg) rs2136309652
NM_000051.4(ATM):c.6633_6634delinsAA (p.Leu2212Ile) rs1555119055
NM_000051.4(ATM):c.6635T>C (p.Leu2212Pro)
NM_000051.4(ATM):c.6637A>G (p.Lys2213Glu)
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.6648_6652dup (p.Ser2218fs)
NM_000051.4(ATM):c.6650T>A (p.Phe2217Tyr) rs876659101
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val) rs2136310909
NM_000051.4(ATM):c.6656T>C (p.Phe2219Ser) rs1244168959
NM_000051.4(ATM):c.6656T>G (p.Phe2219Cys)
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys) rs1591128898
NM_000051.4(ATM):c.6664C>G (p.Pro2222Ala)
NM_000051.4(ATM):c.6664C>T (p.Pro2222Ser)
NM_000051.4(ATM):c.6665C>A (p.Pro2222His) rs997021874
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg) rs997021874
NM_000051.4(ATM):c.6665C>T (p.Pro2222Leu)
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile) rs2136311974
NM_000051.4(ATM):c.6674C>T (p.Ala2225Val)
NM_000051.4(ATM):c.6679C>A (p.Arg2227Ser) rs564652222
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6680G>C (p.Arg2227Pro)
NM_000051.4(ATM):c.6683C>G (p.Thr2228Arg)
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.4(ATM):c.6688A>T (p.Ile2230Phe)
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6696G>C (p.Glu2232Asp) rs1591129223
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu) rs1385625521
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro) rs1158183992
NM_000051.4(ATM):c.6709A>G (p.Lys2237Glu)
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg) rs35118109
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala) rs1591129372
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val) rs1591129372
NM_000051.4(ATM):c.6718G>A (p.Asp2240Asn) rs587782478
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr) rs786202583
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr) rs1309164461
NM_000051.4(ATM):c.6727C>A (p.Gln2243Lys) rs1565518711
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys) rs2085572299
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln) rs2085572299
NM_000051.4(ATM):c.6734A>G (p.Glu2245Gly) rs1555119214
NM_000051.4(ATM):c.6736T>C (p.Cys2246Arg)
NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
NM_000051.4(ATM):c.6737G>T (p.Cys2246Phe)
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu) rs587781521
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu) rs1555119232
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.4(ATM):c.6749T>G (p.Ile2250Ser)
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val) rs2085575228
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro) rs1262434611
NM_000051.4(ATM):c.6755C>A (p.Thr2252Asn) rs755531586
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln) rs863224578
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu) rs863224578
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg) rs786203332
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe) rs2085578159
NM_000051.4(ATM):c.6764T>G (p.Leu2255Arg) rs876658966
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile) rs1565519006
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6776C>T (p.Ser2259Phe)
NM_000051.4(ATM):c.6779T>G (p.Ile2260Arg)
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val) rs757243222
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp) rs876660017
NM_000051.4(ATM):c.6785C>G (p.Ala2262Gly) rs876660017
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del) rs1565519112
NM_000051.4(ATM):c.6794T>C (p.Phe2265Ser)
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6796A>C (p.Lys2266Gln) rs45481995
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg) rs1591130168
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala) rs1391132040
NM_000051.4(ATM):c.6802_6807del (p.Thr2268_Gln2269del) rs2136319161
NM_000051.4(ATM):c.6803C>G (p.Thr2268Ser) rs2085584695
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys) rs2085584895
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu) rs2085584895
NM_000051.4(ATM):c.6808-7A>G rs2085644108
NM_000051.4(ATM):c.6808C>A (p.Leu2270Ile)
NM_000051.4(ATM):c.6808_6810delinsTTT (p.Leu2270Phe)
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser) rs1591133084
NM_000051.4(ATM):c.6812C>G (p.Pro2271Arg)
NM_000051.4(ATM):c.6815A>G (p.Glu2272Gly) rs1565520129
NM_000051.4(ATM):c.6818G>A (p.Arg2273Lys) rs2136331491
NM_000051.4(ATM):c.6818_6823del (p.Arg2273_Ala2274del) rs1591133168
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu) rs1225138469
NM_000051.4(ATM):c.6830A>C (p.Gln2277Pro)
NM_000051.4(ATM):c.6831A>T (p.Gln2277His) rs1339794219
NM_000051.4(ATM):c.6834T>G (p.Ile2278Met) rs1591133356
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.4(ATM):c.6844A>G (p.Asn2282Asp) rs951881516
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser) rs863224579
NM_000051.4(ATM):c.6854G>T (p.Ser2285Ile)
NM_000051.4(ATM):c.6856T>C (p.Cys2286Arg)
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr) rs786203052
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.6865T>C (p.Ser2289Pro) rs2085653356
NM_000051.4(ATM):c.6866C>T (p.Ser2289Phe) rs1555119833
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.4(ATM):c.6869A>G (p.Glu2290Gly) rs1555119842
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys) rs2136334606
NM_000051.4(ATM):c.6877C>G (p.Leu2293Val)
NM_000051.4(ATM):c.6878T>A (p.Leu2293Gln)
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr) rs2085656079
NM_000051.4(ATM):c.6889C>G (p.Gln2297Glu) rs1565520537
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6898T>C (p.Trp2300Arg) rs1565520641
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys) rs1591133875
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro) rs1060501668
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
NM_000051.4(ATM):c.6908A>C (p.Lys2303Thr) rs1064795166
NM_000051.4(ATM):c.6908A>G (p.Lys2303Arg)
NM_000051.4(ATM):c.6913C>G (p.Gln2305Glu)
NM_000051.4(ATM):c.6914A>G (p.Gln2305Arg) rs2136336746
NM_000051.4(ATM):c.6917G>A (p.Ser2306Asn) rs1591133976
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val) rs56009889
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser) rs1591134072
NM_000051.4(ATM):c.6923C>G (p.Ala2308Gly)
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val) rs876658454
NM_000051.4(ATM):c.6925C>G (p.Leu2309Val) rs763839047
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly) rs572301723
NM_000051.4(ATM):c.6929_6952del (p.Ser2310_Lys2317del)
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro) rs761352263
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.4(ATM):c.6945G>C (p.Met2315Ile)
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp) rs1555120049
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.4(ATM):c.6962C>T (p.Ala2321Val)
NM_000051.4(ATM):c.6965G>T (p.Ser2322Ile) rs876659183
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.6968G>C (p.Cys2323Ser)
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.4(ATM):c.6971C>A (p.Ala2324Glu)
NM_000051.4(ATM):c.6975+13del rs763287238
NM_000051.4(ATM):c.6975+3T>G rs2085670503
NM_000051.4(ATM):c.6975+4T>A rs876660240
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+5_6975+8del rs1565521135
NM_000051.4(ATM):c.6975+5_6975+9del rs1555120086
NM_000051.4(ATM):c.6975+6T>C rs1169579742
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.6975G>T (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-12T>G
NM_000051.4(ATM):c.6976A>G (p.Asn2326Asp)
NM_000051.4(ATM):c.6980A>G (p.Asn2327Ser)
NM_000051.4(ATM):c.6982C>A (p.Pro2328Thr) rs769606850
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6994C>G (p.Leu2332Val) rs762427092
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe) rs762427092
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg) rs4988111
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.4(ATM):c.7003A>C (p.Thr2335Pro) rs1555120970
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg) rs2136374685
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.4(ATM):c.7013T>A (p.Leu2338Gln)
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7017G>C (p.Arg2339Ser)
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile) rs876659429
NM_000051.4(ATM):c.7018G>T (p.Val2340Phe) rs876659429
NM_000051.4(ATM):c.7022G>C (p.Cys2341Ser)
NM_000051.4(ATM):c.7025G>T (p.Gly2342Val)
NM_000051.4(ATM):c.7028A>G (p.Asn2343Ser) rs876658507
NM_000051.4(ATM):c.7029C>G (p.Asn2343Lys)
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val) rs1555121048
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met) rs866740291
NM_000051.4(ATM):c.7043_7054dup (p.Glu2351_Asn2352insThrCysLeuGlu)
NM_000051.4(ATM):c.7051G>A (p.Glu2351Lys)
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr) rs1591142717
NM_000051.4(ATM):c.7058C>G (p.Pro2353Arg)
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu) rs2136377844
NM_000051.4(ATM):c.7059_7070del (p.Ala2354_Met2357del)
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr) rs1591142727
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu) rs1555121079
NM_000051.4(ATM):c.7061C>G (p.Ala2354Gly)
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp) rs1197214197
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val) rs876658517
NM_000051.4(ATM):c.7066A>T (p.Ile2356Phe) rs876658517
NM_000051.4(ATM):c.7068C>G (p.Ile2356Met) rs1591142832
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr) rs1591142855
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7073A>G (p.Gln2358Arg) rs2085824286
NM_000051.4(ATM):c.7074G>T (p.Gln2358His) rs1060501593
NM_000051.4(ATM):c.7075A>G (p.Thr2359Ala)
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn) rs730881314
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.4(ATM):c.7079A>C (p.Tyr2360Ser) rs1555121141
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys) rs1555121141
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile) rs1412288141
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.7084G>A (p.Glu2362Lys)
NM_000051.4(ATM):c.7084G>C (p.Glu2362Gln)
NM_000051.4(ATM):c.7087A>G (p.Lys2363Glu)
NM_000051.4(ATM):c.7088A>G (p.Lys2363Arg)
NM_000051.4(ATM):c.7089+3A>G rs1565524203
NM_000051.4(ATM):c.7089+4A>C rs2136380076
NM_000051.4(ATM):c.7089+5G>A rs1351209504
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-7C>T rs774223576
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu) rs1060501647
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)
NM_000051.4(ATM):c.7103C>A (p.Ala2368Asp)
NM_000051.4(ATM):c.7103C>T (p.Ala2368Val) rs1591150471
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu) rs2085974792
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys) rs1565526394
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.4(ATM):c.7115A>T (p.Asp2372Val) rs2085976203
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala) rs587782225
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn) rs1297882250
NM_000051.4(ATM):c.7129G>A (p.Asp2377Asn) rs1555122008
NM_000051.4(ATM):c.7132G>A (p.Glu2378Lys)
NM_000051.4(ATM):c.7132G>C (p.Glu2378Gln)
NM_000051.4(ATM):c.7134G>C (p.Glu2378Asp)
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr) rs1215010771
NM_000051.4(ATM):c.7154A>G (p.Lys2385Arg)
NM_000051.4(ATM):c.7155G>T (p.Lys2385Asn)
NM_000051.4(ATM):c.7156G>T (p.Ala2386Ser) rs876659392
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7170A>C (p.Leu2390Phe) rs1591150977
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr) rs2136415110
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln) rs876659083
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro) rs876659083
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg) rs1060501592
NM_000051.4(ATM):c.7191A>T (p.Gln2397His)
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys) rs1591151173
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys) rs2085985186
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg) rs1565526758
NM_000051.4(ATM):c.7198A>G (p.Arg2400Gly) rs777423778
NM_000051.4(ATM):c.7199G>C (p.Arg2400Thr) rs567457294
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu) rs587781323
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.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.4(ATM):c.7230T>A (p.Phe2410Leu) rs1565527030
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu) rs1565527030
NM_000051.4(ATM):c.7232A>C (p.Glu2411Ala)
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
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.7237A>G (p.Lys2413Glu)
NM_000051.4(ATM):c.7238A>G (p.Lys2413Arg)
NM_000051.4(ATM):c.7239G>T (p.Lys2413Asn) rs1555122182
NM_000051.4(ATM):c.7243G>C (p.Ala2415Pro)
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.4(ATM):c.7245_7268del (p.Leu2416_Glu2423del)
NM_000051.4(ATM):c.7246C>G (p.Leu2416Val)
NM_000051.4(ATM):c.7247T>C (p.Leu2416Pro)
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro) rs1591151788
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu) rs1555122220
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg) rs1360453074
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys) rs1555122245
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7270G>A (p.Val2424Ile)
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.4(ATM):c.7275T>C (p.Gly2425=) rs2136422273
NM_000051.4(ATM):c.7277_7279delinsCCT (p.Leu2426_Leu2427delinsProPhe)
NM_000051.4(ATM):c.7279C>T (p.Leu2427Phe)
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro) rs1555122272
NM_000051.4(ATM):c.7280T>G (p.Leu2427Arg) rs1555122272
NM_000051.4(ATM):c.7282A>T (p.Arg2428Trp) rs1555122281
NM_000051.4(ATM):c.7284G>T (p.Arg2428Ser)
NM_000051.4(ATM):c.7290T>A (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7292A>C (p.Lys2431Thr)
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val) rs587781838
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu) rs1591152450
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile) rs2136423951
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp) rs1555122326
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.4(ATM):c.7306A>G (p.Arg2436Gly) rs1555122335
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+1_7307+3dup rs1565527496
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.7308-11T>C rs1565529149
NM_000051.4(ATM):c.7308-5G>A rs2086108867
NM_000051.4(ATM):c.7308-7A>G rs1476284330
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys) rs1555122944
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys) rs147604227
NM_000051.4(ATM):c.7315G>A (p.Val2439Ile)
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe) rs876659556
NM_000051.4(ATM):c.7325A>C (p.Gln2442Pro)
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg) rs1591159790
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro) rs587782310
NM_000051.4(ATM):c.7328G>T (p.Arg2443Leu) rs587782310
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys) rs2136453151
NM_000051.4(ATM):c.7330G>C (p.Glu2444Gln)
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln) rs1555122992
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro) rs1555122992
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn) rs1591160022
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly) rs1275267580
NM_000051.4(ATM):c.7345G>A (p.Glu2449Lys)
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala) rs1555123004
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly) rs1555123004
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.4(ATM):c.7351G>T (p.Ala2451Ser) rs587779862
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val) rs2086116043
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg) rs1555123032
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro) rs1565529541
NM_000051.4(ATM):c.7360_7365del (p.Ala2454_Leu2455del)
NM_000051.4(ATM):c.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro) rs1555123056
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>A (p.Arg2459Ser) rs730881383
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.7382G>C (p.Arg2461Pro) rs768461085
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val) rs878853543
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
NM_000051.4(ATM):c.7393A>C (p.Lys2465Gln)
NM_000051.4(ATM):c.7393A>G (p.Lys2465Glu)
NM_000051.4(ATM):c.7397C>T (p.Ala2466Val)
NM_000051.4(ATM):c.7399G>C (p.Val2467Leu)
NM_000051.4(ATM):c.7405A>C (p.Asn2469His)
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys) rs878853544
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7411A>G (p.Ile2471Val) rs1565529832
NM_000051.4(ATM):c.7414A>G (p.Asn2472Asp) rs1591160721
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr) rs1029740910
NM_000051.4(ATM):c.7439A>C (p.His2480Pro)
NM_000051.4(ATM):c.7444A>G (p.Met2482Val) rs951373716
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu) rs951373716
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7445_7446delinsCT (p.Met2482Thr) rs1565529987
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile) rs2136460286
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg) rs1591161080
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu) rs587779864
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe) rs774281788
NM_000051.4(ATM):c.7465T>G (p.Ser2489Ala)
NM_000051.4(ATM):c.7465_7466delinsGT (p.Ser2489Val)
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr) rs759728261
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys) rs1555123257
NM_000051.4(ATM):c.7474C>G (p.Leu2492Val)
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe) rs1555123259
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.4(ATM):c.7487G>C (p.Gly2496Ala) rs764478418
NM_000051.4(ATM):c.7489G>A (p.Val2497Ile)
NM_000051.4(ATM):c.7493C>T (p.Ser2498Phe)
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.4(ATM):c.7499_7502delinsCCAG (p.Val2500_Asn2501delinsAlaSer) rs1555123310
NM_000051.4(ATM):c.7505G>A (p.Gly2502Asp) rs754517317
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7516-3T>C
NM_000051.4(ATM):c.7516-4G>T rs876660105
NM_000051.4(ATM):c.7516-5G>A rs1057520837
NM_000051.4(ATM):c.7516-9T>A rs2086219990
NM_000051.4(ATM):c.7517G>C (p.Arg2506Thr)
NM_000051.4(ATM):c.7519G>A (p.Asp2507Asn)
NM_000051.4(ATM):c.7519G>C (p.Asp2507His) rs2136491059
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu) rs751234924
NM_000051.4(ATM):c.7526T>G (p.Met2509Arg) rs2136491479
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr) rs1565532052
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His) rs1555123985
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys) rs1555123994
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu) rs1555124004
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr) rs1591167340
NM_000051.4(ATM):c.7551G>T (p.Leu2517Phe)
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val) rs1555124019
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7558A>G (p.Met2520Val)
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg) rs1555124039
NM_000051.4(ATM):c.7566A>T (p.Gln2522His) rs775621333
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr) rs769142993
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val) rs876660663
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe) rs1555124054
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly) rs1591167721
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.4(ATM):c.7580T>A (p.Met2527Lys) rs1555124065
NM_000051.4(ATM):c.7586C>T (p.Thr2529Ile)
NM_000051.4(ATM):c.7590G>T (p.Lys2530Asn)
NM_000051.4(ATM):c.7593G>T (p.Met2531Ile) rs786203764
NM_000051.4(ATM):c.7594A>G (p.Met2532Val) rs2136496697
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7597G>A (p.Gly2533Arg)
NM_000051.4(ATM):c.7600G>A (p.Gly2534Ser) rs1555124094
NM_000051.4(ATM):c.7600G>C (p.Gly2534Arg) rs1555124094
NM_000051.4(ATM):c.7615G>A (p.Glu2539Lys) rs876658496
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp) rs1591168001
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe) rs1565532615
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser) rs2086236181
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys) rs1555124134
NM_000051.4(ATM):c.7627A>G (p.Asn2543Asp) rs1591168132
NM_000051.4(ATM):c.7628A>G (p.Asn2543Ser) rs1591168151
NM_000051.4(ATM):c.7629+3A>C rs752251778
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7630-3_7630-2del rs587782250
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.4(ATM):c.7640G>A (p.Arg2547Lys)
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile) rs2136515485
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu) rs878853545
NM_000051.4(ATM):c.7649T>A (p.Met2550Lys)
NM_000051.4(ATM):c.7649T>C (p.Met2550Thr)
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7654C>A (p.His2552Asn) rs786202174
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr) rs786202174
NM_000051.4(ATM):c.7655A>G (p.His2552Arg)
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr) rs1555124475
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)
NM_000051.4(ATM):c.7658C>G (p.Pro2553Arg) rs864622368
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu) rs864622368
NM_000051.4(ATM):c.7661A>T (p.His2554Leu) rs1555124487
NM_000051.4(ATM):c.7663C>A (p.His2555Asn) rs786203651
NM_000051.4(ATM):c.7663C>T (p.His2555Tyr) rs786203651
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn) rs1226186392
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del) rs1591171617
NM_000051.4(ATM):c.7684G>A (p.Ala2562Thr) rs1555124521
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser) rs1555124521
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7697C>G (p.Ala2566Gly) rs2086297257
NM_000051.4(ATM):c.7703G>T (p.Arg2568Ile)
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.7707T>G (p.Asp2569Glu)
NM_000051.4(ATM):c.7709A>G (p.Glu2570Gly)
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.4(ATM):c.7717A>G (p.Thr2573Ala) rs1591172139
NM_000051.4(ATM):c.7718C>G (p.Thr2573Ser) rs1565534068
NM_000051.4(ATM):c.7721A>C (p.Lys2574Thr)
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln) rs1591172186
NM_000051.4(ATM):c.7724C>T (p.Pro2575Leu)
NM_000051.4(ATM):c.7732G>C (p.Ala2578Pro) rs1555124632
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)
NM_000051.4(ATM):c.7751C>T (p.Thr2584Ile)
NM_000051.4(ATM):c.7759G>A (p.Val2587Met) rs1285491916
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu) rs876659557
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg) rs878853546
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu) rs876659561
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg) rs1555124706
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.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788+3A>T rs869312788
NM_000051.4(ATM):c.7789-14T>G
NM_000051.4(ATM):c.7789-4A>C
NM_000051.4(ATM):c.7789-7T>G
NM_000051.4(ATM):c.7793G>T (p.Arg2598Leu) rs140263969
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile) rs2086404569
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr) rs1555125227
NM_000051.4(ATM):c.7805C>G (p.Ala2602Gly)
NM_000051.4(ATM):c.7807A>G (p.Asn2603Asp) rs1591178124
NM_000051.4(ATM):c.7811G>C (p.Arg2604Thr)
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.4(ATM):c.7813A>G (p.Ile2605Val) rs2086407468
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del) rs786203830
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.4(ATM):c.7819T>A (p.Cys2607Ser)
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val) rs779400418
NM_000051.4(ATM):c.7826T>A (p.Ile2609Asn)
NM_000051.4(ATM):c.7826T>C (p.Ile2609Thr) rs369846067
NM_000051.4(ATM):c.7830A>T (p.Arg2610Ser)
NM_000051.4(ATM):c.7834A>G (p.Arg2612Gly)
NM_000051.4(ATM):c.7838G>A (p.Arg2613Lys)
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.4(ATM):c.7841C>A (p.Pro2614His) rs769207177
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu) rs769207177
NM_000051.4(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.4(ATM):c.7848G>A (p.Met2616Ile) rs2136565782
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.4(ATM):c.7849_7857delinsAGGTCTCCTTTGAGTGCCTCA (p.Val2617_Arg2618delinsArgSerProLeuSerAla) rs2086415356
NM_000051.4(ATM):c.7851C>G (p.Val2617=)
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly) rs1057521185
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly) rs2086416652
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe) rs1427723678
NM_000051.4(ATM):c.7859T>C (p.Val2620Ala)
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile) rs774118570
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val) rs774118570
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7868T>A (p.Leu2623His) rs1591178731
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly) rs1591178767
NM_000051.4(ATM):c.7873G>C (p.Asp2625His) rs1272613396
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala) rs876660121
NM_000051.4(ATM):c.7874A>T (p.Asp2625Val)
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu) rs587781370
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val) rs587781370
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val) rs2136569929
NM_000051.4(ATM):c.7886T>C (p.Ile2629Thr)
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile) rs1555125427
NM_000051.4(ATM):c.7891G>C (p.Ala2631Pro)
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys) rs1591179036
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val) rs876660909
NM_000051.4(ATM):c.7904C>A (p.Ala2635Asp) rs754002355
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.4(ATM):c.7904C>T (p.Ala2635Val) rs754002355
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7910A>G (p.Gln2637Arg) rs1555125476
NM_000051.4(ATM):c.7927+3A>C
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.7927+5G>C rs1299306446
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7927A>G (p.Lys2643Glu) rs587782487
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7928-2A>C rs864622610
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7928-5T>C rs1591183992
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser) rs587781897
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg) rs587781897
NM_000051.4(ATM):c.7930G>T (p.Gly2644Cys) rs587781897
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.4(ATM):c.7935A>G (p.Ile2645Met) rs1591184158
NM_000051.4(ATM):c.7940T>C (p.Ile2647Thr)
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu) rs1060504298
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del) rs1555126226
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala) rs2136613550
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser) rs786203621
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile) rs786203621
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe) rs1591184384
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del) rs2086551461
NM_000051.4(ATM):c.7978G>C (p.Glu2660Gln)
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.4(ATM):c.7982A>T (p.Asp2661Val)
NM_000051.4(ATM):c.7984G>T (p.Val2662Phe) rs1315805984
NM_000051.4(ATM):c.7991T>C (p.Val2664Ala)
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu) rs1591184690
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu) rs34099398
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys) rs772097933
NM_000051.4(ATM):c.8007T>G (p.Ile2669Met)
NM_000051.4(ATM):c.8008A>C (p.Lys2670Gln)
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8011-5A>G
NM_000051.4(ATM):c.8011G>C (p.Val2671Leu)
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr) rs1555127035
NM_000051.4(ATM):c.8021C>T (p.Thr2674Ile)
NM_000051.4(ATM):c.8027A>C (p.Glu2676Ala)
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met) rs2086671863
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.8044A>G (p.Thr2682Ala) rs730881320
NM_000051.4(ATM):c.8045C>T (p.Thr2682Ile)
NM_000051.4(ATM):c.8047A>T (p.Ile2683Leu) rs587781344
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
NM_000051.4(ATM):c.8051A>C (p.Gln2684Pro)
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8057T>C (p.Phe2686Ser)
NM_000051.4(ATM):c.8061A>C (p.Lys2687Asn)
NM_000051.4(ATM):c.8062G>A (p.Ala2688Thr) rs1565540761
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly) rs531980488
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro) rs876658385
NM_000051.4(ATM):c.8076A>T (p.Leu2692Phe)
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg) rs1555127157
NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala) rs2086679689
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg) rs1555127166
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys) rs1555127166
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val) rs1060501680
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala) rs1591191762
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser) rs2136660129
NM_000051.4(ATM):c.8091T>A (p.Asn2697Lys)
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser) rs2086682194
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8099A>C (p.Lys2700Thr)
NM_000051.4(ATM):c.8101ATA[1] (p.Ile2702del) rs1591191917
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8110T>C (p.Cys2704Arg) rs1591192055
NM_000051.4(ATM):c.8110T>G (p.Cys2704Gly)
NM_000051.4(ATM):c.8111G>T (p.Cys2704Phe)
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8116G>A (p.Gly2706Ser)
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser) rs3218680
NM_000051.4(ATM):c.8125G>T (p.Gly2709Cys) rs3218680
NM_000051.4(ATM):c.8130G>T (p.Lys2710Asn)
NM_000051.4(ATM):c.8135G>A (p.Arg2712Lys) rs1591192346
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>A (p.Gln2714Lys) rs1060501695
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8143C>A (p.Leu2715Ile) rs1591192429
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe) rs1591192429
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr) rs1555127353
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.8151+4A>T rs1294982909
NM_000051.4(ATM):c.8151+5G>A rs1555127370
NM_000051.4(ATM):c.8151+5G>C rs1555127370
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8152-3A>G
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>G rs752705487
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg) rs1060501689
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.4(ATM):c.8158G>A (p.Asp2720Asn) rs876659942
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly) rs745901025
NM_000051.4(ATM):c.8159A>T (p.Asp2720Val)
NM_000051.4(ATM):c.8161G>C (p.Asp2721His) rs876659066
NM_000051.4(ATM):c.8162A>G (p.Asp2721Gly) rs1555128280
NM_000051.4(ATM):c.8164C>A (p.Leu2722Met)
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val) rs587782399
NM_000051.4(ATM):c.8169A>T (p.Arg2723Ser) rs780495319
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys) rs2086784990
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg) rs1565543300
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu) rs1431188311
NM_000051.4(ATM):c.8177C>T (p.Ala2726Val)
NM_000051.4(ATM):c.8179G>T (p.Val2727Phe)
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu) rs587781967
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro) rs1555128350
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8188C>A (p.Gln2730Lys) rs587782317
NM_000051.4(ATM):c.8190G>C (p.Gln2730His) rs2086788941
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala) rs2086789387
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly) rs2086789387
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8196C>A (p.Phe2732Leu) rs1183442138
NM_000051.4(ATM):c.8200A>T (p.Met2734Leu)
NM_000051.4(ATM):c.8203T>C (p.Cys2735Arg)
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp) rs1060501577
NM_000051.4(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8220G>C (p.Gln2740His)
NM_000051.4(ATM):c.8221A>G (p.Arg2741Gly) rs1591198932
NM_000051.4(ATM):c.8224A>C (p.Asn2742His)
NM_000051.4(ATM):c.8228C>G (p.Thr2743Arg) rs730881321
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile) rs786203094
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
NM_000051.4(ATM):c.8242A>T (p.Arg2748Trp)
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile) rs876658559
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser) rs2086800136
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe) rs1284049490
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)
NM_000051.4(ATM):c.8266A>C (p.Lys2756Gln) rs371638537
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg) rs1555128635
NM_000051.4(ATM):c.8268+3_8268+4dup rs2136701172
NM_000051.4(ATM):c.8268+5C>T rs1565544035
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
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.8269-13del rs2136938446
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8269-5T>G rs1555135331
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe) rs1555135373
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala) rs764906663
NM_000051.4(ATM):c.8276C>A (p.Pro2759His) rs2087807752
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu) rs2087807752
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe) rs758609900
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.4(ATM):c.8302G>A (p.Glu2768Lys) rs1555135513
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val) rs2136943134
NM_000051.4(ATM):c.8308T>C (p.Cys2770Arg) rs749737164
NM_000051.4(ATM):c.8308T>G (p.Cys2770Gly) rs749737164
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe) rs2087816795
NM_000051.4(ATM):c.8309_8310delinsTT (p.Cys2770Phe)
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.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala) rs775293524
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn) rs786203321
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile) rs786203321
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu) rs2087821053
NM_000051.4(ATM):c.8324C>A (p.Pro2775His) rs1591248275
NM_000051.4(ATM):c.8324C>T (p.Pro2775Leu) rs1591248275
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn) rs746475628
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser) rs2087823795
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8332G>A (p.Glu2778Lys)
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
NM_000051.4(ATM):c.8336T>A (p.Phe2779Tyr) rs876660461
NM_000051.4(ATM):c.8337T>A (p.Phe2779Leu)
NM_000051.4(ATM):c.8338C>A (p.Leu2780Ile)
NM_000051.4(ATM):c.8339T>G (p.Leu2780Arg)
NM_000051.4(ATM):c.8341G>T (p.Val2781Phe) rs1293051732
NM_000051.4(ATM):c.8341_8343del (p.Val2781del) rs1178661659
NM_000051.4(ATM):c.8342T>G (p.Val2781Gly)
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser) rs2087826921
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val) rs1591248589
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr) rs1591248677
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.4(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.4(ATM):c.8364T>A (p.His2788Gln) rs1591248749
NM_000051.4(ATM):c.8366A>G (p.Lys2789Arg) rs1591248788
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys) rs534914490
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8380A>G (p.Asn2794Asp)
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu) rs1591249094
NM_000051.4(ATM):c.8388_8390del (p.Ser2797del)
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly) rs761629908
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn) rs1203037698
NM_000051.4(ATM):c.8393C>T (p.Ala2798Val) rs772992098
NM_000051.4(ATM):c.8395T>A (p.Phe2799Ile) rs730881323
NM_000051.4(ATM):c.8397T>A (p.Phe2799Leu)
NM_000051.4(ATM):c.8398C>A (p.Gln2800Lys)
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.4(ATM):c.8402G>A (p.Cys2801Tyr)
NM_000051.4(ATM):c.8415G>A (p.Met2805Ile) rs1555135878
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.4(ATM):c.8418+3G>T rs2087845145
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000051.4(ATM):c.8418+6T>C rs1555135928
NM_000051.4(ATM):c.8418+704G>T
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.8419G>A (p.Glu2807Lys) rs1555137929
NM_000051.4(ATM):c.8420A>T (p.Glu2807Val) rs2088262504
NM_000051.4(ATM):c.8422G>A (p.Val2808Met) rs876660616
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala) rs1359195708
NM_000051.4(ATM):c.8424G>A (p.Val2808=)
NM_000051.4(ATM):c.8429A>C (p.Lys2810Thr) rs1555137999
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.4(ATM):c.8433G>T (p.Lys2811Asn)
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro) rs786202372
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr) rs1565563280
NM_000051.4(ATM):c.8435C>G (p.Ser2812Cys) rs1565563280
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.4(ATM):c.8455G>A (p.Val2819Ile)
NM_000051.4(ATM):c.8456T>C (p.Val2819Ala)
NM_000051.4(ATM):c.8458T>G (p.Phe2820Val)
NM_000051.4(ATM):c.8461A>C (p.Met2821Leu)
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr) rs1555138065
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.4(ATM):c.8463G>T (p.Met2821Ile)
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8474A>C (p.Gln2825Pro)
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser) rs1591264493
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu) rs886047614
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu) rs1555138125
NM_000051.4(ATM):c.8483A>G (p.Gln2828Arg) rs1565563564
NM_000051.4(ATM):c.8486C>G (p.Pro2829Arg)
NM_000051.4(ATM):c.8489T>G (p.Val2830Gly) rs1591264625
NM_000051.4(ATM):c.8492T>A (p.Phe2831Tyr) rs1591264665
NM_000051.4(ATM):c.8498A>G (p.Tyr2833Cys) rs1555138162
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile) rs1591264768
NM_000051.4(ATM):c.8501T>G (p.Phe2834Cys) rs1591264788
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr) rs759655842
NM_000051.4(ATM):c.8504G>C (p.Cys2835Ser)
NM_000051.4(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr) rs1591264886
NM_000051.4(ATM):c.8508G>A (p.Met2836Ile)
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
NM_000051.4(ATM):c.8517_8519del (p.Phe2839del) rs2088289040
NM_000051.4(ATM):c.8521G>C (p.Asp2841His) rs786203013
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu) rs879254065
NM_000051.4(ATM):c.8530A>C (p.Ile2844Leu) rs756230327
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle) rs1555138275
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser) rs1591265172
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu) rs2137034202
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8546G>T (p.Arg2849Leu)
NM_000051.4(ATM):c.8548T>G (p.Leu2850Val) rs1555138320
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.4(ATM):c.8551G>A (p.Ala2851Thr)
NM_000051.4(ATM):c.8551G>C (p.Ala2851Pro)
NM_000051.4(ATM):c.8552C>A (p.Ala2851Asp)
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.4(ATM):c.8567T>A (p.Val2856Glu) rs1060501649
NM_000051.4(ATM):c.8567T>C (p.Val2856Ala)
NM_000051.4(ATM):c.8569G>A (p.Ala2857Thr) rs1591265701
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly) rs2137037690
NM_000051.4(ATM):c.8573C>A (p.Thr2858Asn)
NM_000051.4(ATM):c.8576C>G (p.Ser2859Cys) rs786203542
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys) rs1158350157
NM_000051.4(ATM):c.8579C>T (p.Ser2860Phe)
NM_000051.4(ATM):c.8584+3A>G
NM_000051.4(ATM):c.8584+4A>G rs1555138484
NM_000051.4(ATM):c.8584+5T>C rs577897927
NM_000051.4(ATM):c.8585-3C>T
NM_000051.4(ATM):c.8585-4C>T rs1555139447
NM_000051.4(ATM):c.8587G>A (p.Gly2863Ser)
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val) rs786201911
NM_000051.4(ATM):c.8589_8600del (p.Tyr2864_Gly2867del)
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.4(ATM):c.8595A>G (p.Ile2865Met)
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro) rs1555139517
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8600G>A (p.Gly2867Glu) rs2088544594
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val) rs587780642
NM_000051.4(ATM):c.8602C>T (p.Leu2868Phe)
NM_000051.4(ATM):c.8603T>G (p.Leu2868Arg)
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp) rs1555139531
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala) rs1555139531
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn) rs55798854
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.4(ATM):c.8612G>A (p.Arg2871Lys)
NM_000051.4(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8615A>T (p.His2872Leu) rs1591273938
NM_000051.4(ATM):c.8616T>G (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.4(ATM):c.8622G>C (p.Gln2874His) rs2088552485
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.4(ATM):c.8626A>C (p.Ile2876Leu)
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr) rs2137081967
NM_000051.4(ATM):c.8631G>C (p.Leu2877Phe) rs1064794840
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu) rs1591274185
NM_000051.4(ATM):c.8635A>G (p.Asn2879Asp) rs2137082792
NM_000051.4(ATM):c.8641C>G (p.Gln2881Glu)
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.4(ATM):c.8643G>C (p.Gln2881His)
NM_000051.4(ATM):c.8645C>T (p.Ser2882Leu) rs1252051440
NM_000051.4(ATM):c.8647G>C (p.Ala2883Pro)
NM_000051.4(ATM):c.8650G>A (p.Glu2884Lys)
NM_000051.4(ATM):c.8656_8658delinsATT (p.Val2886Ile) rs786202067
NM_000051.4(ATM):c.8657T>C (p.Val2886Ala)
NM_000051.4(ATM):c.8657T>G (p.Val2886Gly) rs1591274458
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8660A>G (p.His2887Arg) rs864622173
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg) rs760955058
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.4(ATM):c.8665G>C (p.Asp2889His) rs587781814
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro) rs2088565976
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8671+4A>C rs876660652
NM_000051.4(ATM):c.8671+4A>G rs876660652
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser) rs1565567541
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8672-5T>C rs1591306315
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8674G>T (p.Val2892Phe) rs1064793425
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala) rs1591306442
NM_000051.4(ATM):c.8678C>T (p.Ala2893Val)
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys) rs2089494758
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp) rs1591306536
NM_000051.4(ATM):c.8695A>G (p.Ile2899Val) rs1591306598
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met) rs1333079704
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.8705C>G (p.Thr2902Ser) rs1591306636
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile) rs1591306636
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser) rs1591306666
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln) rs1591306697
NM_000051.4(ATM):c.8711A>T (p.Glu2904Val)
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8713A>C (p.Thr2905Pro) rs1555142833
NM_000051.4(ATM):c.8716G>T (p.Val2906Phe)
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg) rs56887719
NM_000051.4(ATM):c.8728C>G (p.Leu2910Val)
NM_000051.4(ATM):c.8728C>T (p.Leu2910Phe) rs1555142851
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro) rs786203271
NM_000051.4(ATM):c.8731A>G (p.Thr2911Ala) rs786203271
NM_000051.4(ATM):c.8732C>G (p.Thr2911Ser) rs794728018
NM_000051.4(ATM):c.8737G>C (p.Asp2913His) rs756899044
NM_000051.4(ATM):c.8738A>G (p.Asp2913Gly)
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
NM_000051.4(ATM):c.8740A>T (p.Ile2914Phe)
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn) rs150874041
NM_000051.4(ATM):c.8755G>A (p.Gly2919Ser)
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp) rs2137294046
NM_000051.4(ATM):c.8758A>G (p.Ile2920Val) rs1555142880
NM_000051.4(ATM):c.8760_8762dup (p.Thr2921_Gly2922insThr) rs2089514452
NM_000051.4(ATM):c.8761A>T (p.Thr2921Ser) rs876658823
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8762C>G (p.Thr2921Arg)
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp) rs2089517173
NM_000051.4(ATM):c.8765G>C (p.Gly2922Ala) rs2089517173
NM_000051.4(ATM):c.8768T>A (p.Val2923Asp) rs786203055
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys) rs2137295860
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp) rs769959260
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys) rs1555142909
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+5G>A
NM_000051.4(ATM):c.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-13T>G rs1565582198
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly) rs876659807
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys) rs1240328733
NM_000051.4(ATM):c.8803A>G (p.Met2935Val)
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr) rs2137348119
NM_000051.4(ATM):c.8804T>G (p.Met2935Arg)
NM_000051.4(ATM):c.8808A>G (p.Glu2936=)
NM_000051.4(ATM):c.8809G>A (p.Val2937Met) rs786203917
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.4(ATM):c.8813T>A (p.Met2938Lys) rs1565582407
NM_000051.4(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys) rs775823407
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe) rs1591314282
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val) rs786203505
NM_000051.4(ATM):c.8834T>A (p.Leu2945Gln)
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser) rs2137352720
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser) rs760950400
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
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.8846T>G (p.Val2949Gly)
NM_000051.4(ATM):c.8850+5A>C rs1057522186
NM_000051.4(ATM):c.8850+5A>G rs1057522186
NM_000051.4(ATM):c.8850+5A>T rs1057522186
NM_000051.4(ATM):c.8850+5dup rs1400626849
NM_000051.4(ATM):c.8850G>C (p.Glu2950Asp)
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)
NM_000051.4(ATM):c.8857C>G (p.Leu2953Val) rs2137870068
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8875G>A (p.Asp2959Asn)
NM_000051.4(ATM):c.8875G>C (p.Asp2959His)
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile) rs2137874845
NM_000051.4(ATM):c.8890C>A (p.Pro2964Thr)
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp) rs1555151299
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.8904G>T (p.Leu2968Phe) rs1555151326
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His) rs1591384712
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg) rs1060501714
NM_000051.4(ATM):c.8917A>G (p.Arg2973Gly) rs1555151352
NM_000051.4(ATM):c.8917A>T (p.Arg2973Trp)
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.4(ATM):c.8920C>A (p.Pro2974Thr) rs984616023
NM_000051.4(ATM):c.8926G>T (p.Asp2976Tyr)
NM_000051.4(ATM):c.8935G>C (p.Glu2979Gln) rs992563687
NM_000051.4(ATM):c.8937G>T (p.Glu2979Asp) rs876658242
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val) rs786203721
NM_000051.4(ATM):c.8939T>C (p.Leu2980Pro)
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8943C>G (p.His2981Gln) rs876660594
NM_000051.4(ATM):c.8945C>A (p.Pro2982His)
NM_000051.4(ATM):c.8947A>C (p.Thr2983Pro) rs1555151456
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val) rs747445236
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8959G>C (p.Asp2987His) rs863224582
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.8960A>G (p.Asp2987Gly) rs2091213427
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg) rs1555151490
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln) rs1800558
NM_000051.4(ATM):c.8971T>A (p.Cys2991Ser)
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg) rs1591385376
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr) rs1555151500
NM_000051.4(ATM):c.8972G>T (p.Cys2991Phe) rs1555151500
NM_000051.4(ATM):c.8983C>T (p.Leu2995Phe)
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)
NM_000051.4(ATM):c.8988-13T>G rs756571175
NM_000051.4(ATM):c.8988-3T>C rs1565608600
NM_000051.4(ATM):c.8988-7T>A rs1487809821
NM_000051.4(ATM):c.8988-8dup rs1591386308
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.4(ATM):c.8995G>C (p.Asp2999His)
NM_000051.4(ATM):c.8996A>T (p.Asp2999Val) rs1555151684
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu) rs587781698
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr) rs587781413
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.4(ATM):c.9013G>A (p.Val3005Ile) rs1555151745
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr) rs876658767
NM_000051.4(ATM):c.9016G>C (p.Ala3006Pro) rs876658767
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9021A>T (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro) rs587781894
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9026T>C (p.Val3009Ala)
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser) rs2137909752
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu) rs372795527
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys) rs1555151804
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr) rs1555151804
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg) rs1555151804
NM_000051.4(ATM):c.9042A>T (p.Gln3014His) rs1060504291
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys) rs1591387120
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly) rs1565609065
NM_000051.4(ATM):c.9050T>A (p.Leu3017Gln)
NM_000051.4(ATM):c.9054A>C (p.Lys3018Asn)
NM_000051.4(ATM):c.9059T>A (p.Val3020Glu)
NM_000051.4(ATM):c.9059T>C (p.Val3020Ala)
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.4(ATM):c.9071C>A (p.Thr3024Asn) rs786203183
NM_000051.4(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.4(ATM):c.9073G>T (p.Val3025Leu) rs1555151925
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala) rs2137916904
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.4(ATM):c.9079A>C (p.Ser3027Arg) rs763152094
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.4(ATM):c.9080G>A (p.Ser3027Asn) rs1565609342
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile) rs1565609342
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile) rs876660251
NM_000051.4(ATM):c.9085G>C (p.Gly3029Arg)
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg) rs879254215
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val) rs876658529
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu) rs1555151979
NM_000051.4(ATM):c.9094G>A (p.Val3032Met) rs587779877
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp) rs1555151992
NM_000051.4(ATM):c.9103C>A (p.Leu3035Ile) rs866769874
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val) rs866769874
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000051.4(ATM):c.9106A>C (p.Ile3036Leu)
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.4(ATM):c.9114G>C (p.Gln3038His) rs2091254206
NM_000051.4(ATM):c.9116C>T (p.Ala3039Val)
NM_000051.4(ATM):c.9118A>G (p.Ile3040Val) rs2091255041
NM_000051.4(ATM):c.9127A>G (p.Lys3043Glu) rs1591388080
NM_000051.4(ATM):c.9129A>C (p.Lys3043Asn)
NM_000051.4(ATM):c.9131A>G (p.Asn3044Ser) rs1555152029
NM_000051.4(ATM):c.9131A>T (p.Asn3044Ile) rs1555152029
NM_000051.4(ATM):c.9133C>A (p.Leu3045Ile)
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9134T>C (p.Leu3045Pro) rs1591388159
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln) rs1047129530
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.9143T>G (p.Leu3048Arg)
NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)
NM_000051.4(ATM):c.9145T>G (p.Phe3049Val) rs1591388288
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser) rs2137928327
NM_000051.4(ATM):c.9151G>C (p.Gly3051Arg) rs730881332
NM_000051.4(ATM):c.9153A>T (p.Gly3051=)
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser) rs1591388369
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys) rs587781711
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln) rs1555152104
NM_000051.4(ATM):c.9158A>G (p.Lys3053Arg)
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro) rs1565609869
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly) rs1555152117
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val) rs1555152117
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.9166G>A (p.Val3056Met) rs371767164
NM_000051.4(ATM):c.9166del (p.Val3056fs) rs876659234

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