ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 737
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
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.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
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.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.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 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.6160G>T (p.Ala2054Ser) rs587779853 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
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.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.7375C>T (p.Arg2459Cys) rs730881383 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.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.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.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.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.5930T>C (p.Phe1977Ser) rs780867575 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.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.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.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.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.6367A>G (p.Ser2123Gly) rs876659773 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.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr) rs374551964 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.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.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.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.7088A>T (p.Lys2363Met) rs757293178 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.7189C>G (p.Gln2397Glu) rs747372355 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 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.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.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala) rs754245181 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 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.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.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.7648A>G (p.Met2550Val) rs878853545 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.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.7902T>G (p.Asp2634Glu) rs373147078 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 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.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.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 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.8254A>G (p.Ile2752Val) rs1215163673 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 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.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8400G>C (p.Gln2800His) rs879253901 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8461A>G (p.Met2821Val) rs876660081 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.8572A>G (p.Thr2858Ala) rs749193688 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.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.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+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047 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.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.9041A>G (p.Gln3014Arg) rs1064793579 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.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.*16T>G rs1362987304
NM_000051.4(ATM):c.*19C>T rs1338371572
NM_000051.4(ATM):c.*9del rs1565609967
NM_000051.4(ATM):c.5763-13C>G rs1057522554
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5765C>A (p.Pro1922His) rs751792004
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.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu) rs1290871799
NM_000051.4(ATM):c.5789A>G (p.Asp1930Gly) rs2084024488
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
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>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr) rs1591746066
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.5867T>A (p.Leu1956His) rs876658989
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val) rs2136017305
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
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.5917A>C (p.Arg1973=) rs786202089
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.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5951C>T (p.Thr1984Ile)
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
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.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.4(ATM):c.5987A>G (p.Glu1996Gly) rs1264932751
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.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His) rs1591776885
NM_000051.4(ATM):c.6085C>T (p.Pro2029Ser) rs2136121608
NM_000051.4(ATM):c.6088A>C (p.Ile2030Leu) rs145847315
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile) rs2136127153
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val) rs753384717
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly) rs1591779138
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala) rs1329479941
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6188G>C (p.Gly2063Ala) rs866290641
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-3del rs762251357
NM_000051.4(ATM):c.6199-5T>A rs1555114533
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.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
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.6253G>T (p.Asp2085Tyr) rs730881379
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys) rs730881380
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.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.4(ATM):c.6270C>A (p.Asp2090Glu) rs1565503097
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys) rs1565503182
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.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.4(ATM):c.6289G>C (p.Glu2097Gln) rs1555114737
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6293_6295del (p.Leu2098del)
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys) rs876660164
NM_000051.4(ATM):c.6304G>A (p.Ala2102Thr) rs1565503340
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro) rs773891864
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6328G>C (p.Asp2110His) rs2136169784
NM_000051.4(ATM):c.6331C>T (p.His2111Tyr)
NM_000051.4(ATM):c.6332A>C (p.His2111Pro) rs876658300
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-8T>G rs730881292
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.6374A>T (p.His2125Leu) rs730881381
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.6389A>G (p.Asn2130Ser) rs2136220181
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
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.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.6443A>C (p.Lys2148Thr) 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.6457A>C (p.Lys2153Gln) rs1386239935
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.4(ATM):c.6519T>C (p.Leu2173=)
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.4(ATM):c.6545T>C (p.Leu2182Pro) rs1555117233
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.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+6T>C rs2085208105
NM_000051.4(ATM):c.6573-13T>C rs530565990
NM_000051.4(ATM):c.6573-23_6573-5del
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile) rs754555043
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>G (p.His2195Arg) rs1565518051
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro) rs1412850323
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala) rs876658435
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.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys) rs1591128898
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6680G>C (p.Arg2227Pro)
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
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>G (p.Asn2241Ser) rs786202583
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.6733G>C (p.Glu2245Gln) rs2085572299
NM_000051.4(ATM):c.6734A>G (p.Glu2245Gly) rs1555119214
NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
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.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6785C>G (p.Ala2262Gly) rs876660017
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
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>G (p.Gln2269Glu) rs2085584895
NM_000051.4(ATM):c.6808-7A>G rs2085644108
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.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.6831A>T (p.Gln2277His) rs1339794219
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>G (p.Asn2282Ser) rs863224579
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala) 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.6889C>G (p.Gln2297Glu) rs1565520537
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
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.6908A>C (p.Lys2303Thr) rs1064795166
NM_000051.4(ATM):c.6914A>G (p.Gln2305Arg) rs2136336746
NM_000051.4(ATM):c.6929_6952del (p.Ser2310_Lys2317del)
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.6975+3T>G rs2085670503
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.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
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.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met) rs866740291
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val) rs876658517
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.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.7089+3A>G rs1565524203
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-7C>T rs774223576
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.4(ATM):c.7103C>A (p.Ala2368Asp)
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>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.7129G>A (p.Asp2377Asn) rs1555122008
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr) rs1215010771
NM_000051.4(ATM):c.7155G>T (p.Lys2385Asn)
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
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.7215G>A (p.Met2405Ile) rs879254179
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
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.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7239G>T (p.Lys2413Asn) rs1555122182
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
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.7290T>G (p.His2430Gln) rs876658715
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.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
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.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
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.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.4(ATM):c.7445_7446delinsCT (p.Met2482Thr) rs1565529987
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.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.4(ATM):c.7505G>A (p.Gly2502Asp) rs754517317
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7516-9T>A rs2086219990
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.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.4(ATM):c.7586C>T (p.Thr2529Ile)
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7600G>C (p.Gly2534Arg) rs1555124094
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7629+3A>C rs752251778
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile) rs2136515485
NM_000051.4(ATM):c.7649T>A (p.Met2550Lys)
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
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.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.4(ATM):c.7718C>G (p.Thr2573Ser) rs1565534068
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7789-14T>G
NM_000051.4(ATM):c.7789-7T>G
NM_000051.4(ATM):c.7793G>T (p.Arg2598Leu) rs140263969
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>C (p.Ile2609Thr) rs369846067
NM_000051.4(ATM):c.7830A>T (p.Arg2610Ser)
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
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.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile) rs774118570
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala) rs876660121
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
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.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7928-2A>C rs864622610
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser) 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.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.4(ATM):c.7984G>T (p.Val2662Phe) rs1315805984
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu) rs1591184690
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys) rs772097933
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8011G>C (p.Val2671Leu)
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met) rs2086671863
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala) rs730881320
NM_000051.4(ATM):c.8045C>T (p.Thr2682Ile)
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
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.8062G>A (p.Ala2688Thr) rs1565540761
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8076A>T (p.Leu2692Phe)
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr) rs876659351
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8143C>A (p.Leu2715Ile) rs1591192429
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe) rs1591192429
NM_000051.4(ATM):c.8151+5G>C rs1555127370
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>G rs752705487
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.4(ATM):c.8169A>T (p.Arg2723Ser) rs780495319
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.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
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.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.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu) rs2087807752
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8308T>C (p.Cys2770Arg) rs749737164
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.8320G>C (p.Val2774Leu) rs2087821053
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val) rs1591248589
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.8366A>G (p.Lys2789Arg) rs1591248788
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
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.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.4(ATM):c.8418+3G>T rs2087845145
NM_000051.4(ATM):c.8418+6T>C rs1555135928
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.8423T>C (p.Val2808Ala) rs1359195708
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.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
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.8506A>G (p.Met2836Val) rs879253968
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>T (p.Asp2841Tyr) rs786203013
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.4(ATM):c.8530A>C (p.Ile2844Leu) rs756230327
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
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.8576C>G (p.Ser2859Cys) rs786203542
NM_000051.4(ATM):c.8584+5T>C rs577897927
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.4(ATM):c.8600G>A (p.Gly2867Glu) rs2088544594
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.8631G>C (p.Leu2877Phe) rs1064794840
NM_000051.4(ATM):c.8635A>G (p.Asn2879Asp) rs2137082792
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.4(ATM):c.8645C>T (p.Ser2882Leu) rs1252051440
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8705C>G (p.Thr2902Ser) rs1591306636
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
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.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8765G>C (p.Gly2922Ala) rs2089517173
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.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-13T>G rs1565582198
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys) rs1240328733
NM_000051.4(ATM):c.8803A>G (p.Met2935Val)
NM_000051.4(ATM):c.8808A>G (p.Glu2936=)
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.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
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.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.8857C>G (p.Leu2953Val) rs2137870068
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile) rs2137874845
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8935G>C (p.Glu2979Gln) rs992563687
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
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.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.8972G>T (p.Cys2991Phe) rs1555151500
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.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.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr) rs1555151804
NM_000051.4(ATM):c.9059T>A (p.Val3020Glu)
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.9079A>C (p.Ser3027Arg) rs763152094
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
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.9118A>G (p.Ile3040Val) rs2091255041
NM_000051.4(ATM):c.9131A>G (p.Asn3044Ser) rs1555152029
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro) rs1565609869
NM_000051.4(ATM):c.9166G>A (p.Val3056Met) rs371767164

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