ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1370
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.*1882C>G rs80226715 0.01757
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*779T>G rs78327467 0.00604
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.*1974C>G rs148781946 0.00368
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.*2224C>T rs139245552 0.00043
NM_000051.4(ATM):c.8418+13C>T rs372552946 0.00041
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.8010+185_8010+186del rs984385407 0.00035
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 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.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.*2563C>T rs146547907 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.7629+146A>G rs769608929 0.00014
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8154C>T (p.Gly2718=) rs371021126 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.6572+11C>T rs368049107 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000051.4(ATM):c.7602C>T (p.Gly2534=) rs562264493 0.00006
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.5868C>T (p.Leu1956=) rs540054724 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.7890A>G (p.Leu2630=) rs756181210 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8786+20G>C rs56283878 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000051.4(ATM):c.6219C>T (p.Leu2073=) rs752478345 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6452+17A>G rs371044809 0.00003
NM_000051.4(ATM):c.6453-15C>A rs763296454 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.6526T>C (p.Leu2176=) rs143715818 0.00003
NM_000051.4(ATM):c.6636C>T (p.Leu2212=) rs876659563 0.00003
NM_000051.4(ATM):c.6678A>G (p.Leu2226=) rs772173373 0.00003
NM_000051.4(ATM):c.6807+20A>G rs369001797 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7191A>G (p.Gln2397=) rs768906734 0.00003
NM_000051.4(ATM):c.7431A>T (p.Gly2477=) rs1158876832 0.00003
NM_000051.4(ATM):c.7516-17del rs1223140309 0.00003
NM_000051.4(ATM):c.7516-19_7516-18insAA rs1361261201 0.00003
NM_000051.4(ATM):c.7927+10T>C rs730881277 0.00003
NM_000051.4(ATM):c.7989T>C (p.Val2663=) rs774232968 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000051.4(ATM):c.8248T>C (p.Leu2750=) rs876658559 0.00003
NM_000051.4(ATM):c.8419-16_8419-13del rs774275044 0.00003
NM_000051.4(ATM):c.8851-19A>G rs772496794 0.00003
NM_000051.4(ATM):c.8964C>T (p.Asp2988=) rs969795398 0.00003
NM_000051.4(ATM):c.5817A>G (p.Leu1939=) rs749652134 0.00002
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6153C>T (p.Leu2051=) rs876658452 0.00002
NM_000051.4(ATM):c.6219C>G (p.Leu2073=) rs752478345 0.00002
NM_000051.4(ATM):c.6246A>G (p.Lys2082=) rs745977589 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6540A>G (p.Gly2180=) rs767516615 0.00002
NM_000051.4(ATM):c.6573-17dup rs1565517900 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6897C>T (p.Phe2299=) rs777164914 0.00002
NM_000051.4(ATM):c.7038A>T (p.Ala2346=) rs146167034 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=) rs772228129 0.00002
NM_000051.4(ATM):c.7788+19C>T rs201990371 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8164C>T (p.Leu2722=) rs587782399 0.00002
NM_000051.4(ATM):c.8169A>G (p.Arg2723=) rs780495319 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 0.00002
NM_000051.4(ATM):c.8269-16T>C rs375051442 0.00002
NM_000051.4(ATM):c.8427A>G (p.Gln2809=) rs538173062 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000051.4(ATM):c.8786+11T>C rs368627124 0.00002
NM_000051.4(ATM):c.8786+12G>A rs767836309 0.00002
NM_000051.4(ATM):c.9045G>A (p.Glu3015=) rs786203336 0.00002
NM_000051.4(ATM):c.5763-19A>G rs967402817 0.00001
NM_000051.4(ATM):c.5835T>G (p.Ala1945=) rs768106055 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5886A>G (p.Ala1962=) rs1057522876 0.00001
NM_000051.4(ATM):c.5918+7G>A rs1423323603 0.00001
NM_000051.4(ATM):c.5919-19G>A rs1679583556 0.00001
NM_000051.4(ATM):c.5919-8A>G rs1176654682 0.00001
NM_000051.4(ATM):c.5964C>T (p.Ser1988=) rs774260725 0.00001
NM_000051.4(ATM):c.6006+13G>C rs368207631 0.00001
NM_000051.4(ATM):c.6006+17C>G rs1218097012 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.6007-16G>A rs771998564 0.00001
NM_000051.4(ATM):c.6012T>C (p.Leu2004=) rs1324998068 0.00001
NM_000051.4(ATM):c.6015C>T (p.Leu2005=) rs1397821498 0.00001
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=) rs777534711 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6097C>T (p.Leu2033=) rs769813736 0.00001
NM_000051.4(ATM):c.6105A>G (p.Thr2035=) rs1555113708 0.00001
NM_000051.4(ATM):c.6192C>A (p.Ile2064=) rs876659831 0.00001
NM_000051.4(ATM):c.6198+11T>C rs774664615 0.00001
NM_000051.4(ATM):c.6199-6G>A rs1555114529 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6336C>T (p.Cys2112=) rs755845798 0.00001
NM_000051.4(ATM):c.6342C>T (p.Ser2114=) rs754020535 0.00001
NM_000051.4(ATM):c.6348-5C>A rs1388651064 0.00001
NM_000051.4(ATM):c.6394C>T (p.Leu2132=) rs551408889 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6452+13G>A rs760228732 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6453-17T>G rs1057522251 0.00001
NM_000051.4(ATM):c.6456A>G (p.Val2152=) rs876660014 0.00001
NM_000051.4(ATM):c.6504G>A (p.Ser2168=) rs786203522 0.00001
NM_000051.4(ATM):c.6507C>G (p.Leu2169=) rs863224295 0.00001
NM_000051.4(ATM):c.6516A>G (p.Thr2172=) rs576254168 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+13T>C rs1441875536 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6630G>A (p.Gln2210=) rs777515589 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6687C>A (p.Val2229=) rs1442555144 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6756C>T (p.Thr2252=) rs1008212556 0.00001
NM_000051.4(ATM):c.6807+10A>G rs924117395 0.00001
NM_000051.4(ATM):c.6808-13A>G rs1410228904 0.00001
NM_000051.4(ATM):c.6808-20A>G rs1240565463 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6924C>A (p.Ala2308=) rs759878732 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6927G>T (p.Leu2309=) rs876660429 0.00001
NM_000051.4(ATM):c.6936C>T (p.Leu2312=) rs1555119992 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.6975+7T>A rs754834282 0.00001
NM_000051.4(ATM):c.6975+9T>C rs1290573965 0.00001
NM_000051.4(ATM):c.6976-6dup rs760058702 0.00001
NM_000051.4(ATM):c.7017G>A (p.Arg2339=) rs1591142466 0.00001
NM_000051.4(ATM):c.7089+20C>T rs730881275 0.00001
NM_000051.4(ATM):c.7110T>C (p.Asn2370=) rs752476328 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.7134G>A (p.Glu2378=) rs376185463 0.00001
NM_000051.4(ATM):c.7209C>T (p.Asn2403=) rs373662499 0.00001
NM_000051.4(ATM):c.7221A>G (p.Ser2407=) rs786201881 0.00001
NM_000051.4(ATM):c.7266G>A (p.Glu2422=) rs876659834 0.00001
NM_000051.4(ATM):c.7302A>T (p.Thr2434=) rs752125292 0.00001
NM_000051.4(ATM):c.7307+18A>C rs777909508 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7308-20C>T rs778603753 0.00001
NM_000051.4(ATM):c.7314A>C (p.Thr2438=) rs199909913 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 0.00001
NM_000051.4(ATM):c.7363C>T (p.Leu2455=) rs147665149 0.00001
NM_000051.4(ATM):c.7371G>A (p.Glu2457=) rs1454725863 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7516-15T>G rs1400642000 0.00001
NM_000051.4(ATM):c.7539A>G (p.Thr2513=) rs752294923 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7545A>G (p.Lys2515=) rs1467809725 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7620C>A (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7620C>T (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7629+12T>C rs373731708 0.00001
NM_000051.4(ATM):c.7629+20A>C rs2086239323 0.00001
NM_000051.4(ATM):c.7629T>C (p.Asn2543=) rs767123895 0.00001
NM_000051.4(ATM):c.7630-12C>G rs911541230 0.00001
NM_000051.4(ATM):c.7630-15G>T rs773603597 0.00001
NM_000051.4(ATM):c.7630-4A>G rs1057523067 0.00001
NM_000051.4(ATM):c.7707T>C (p.Asp2569=) rs1183350500 0.00001
NM_000051.4(ATM):c.7716G>C (p.Leu2572=) rs763730344 0.00001
NM_000051.4(ATM):c.7788+20G>A rs775245736 0.00001
NM_000051.4(ATM):c.7788+7G>A rs749610251 0.00001
NM_000051.4(ATM):c.7821T>C (p.Cys2607=) rs771607956 0.00001
NM_000051.4(ATM):c.7905C>T (p.Ala2635=) rs757829783 0.00001
NM_000051.4(ATM):c.7927+13T>A rs748853277 0.00001
NM_000051.4(ATM):c.7928-6A>T rs373509918 0.00001
NM_000051.4(ATM):c.7974T>C (p.Asn2658=) rs777548685 0.00001
NM_000051.4(ATM):c.8010+19_8010+20del rs1325965934 0.00001
NM_000051.4(ATM):c.8010+5T>A rs56256497 0.00001
NM_000051.4(ATM):c.8011-18T>C rs768522292 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8112T>C (p.Cys2704=) rs786201543 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8152-17G>A rs368924012 0.00001
NM_000051.4(ATM):c.8152-8T>A rs752705487 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8193C>T (p.Val2731=) rs1060504307 0.00001
NM_000051.4(ATM):c.8199G>A (p.Gln2733=) rs770552705 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=) rs758654836 0.00001
NM_000051.4(ATM):c.8268+11G>A rs769204788 0.00001
NM_000051.4(ATM):c.8268+13A>T rs1400036072 0.00001
NM_000051.4(ATM):c.8268+18T>C rs1555128701 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8418+11C>A rs1277361086 0.00001
NM_000051.4(ATM):c.8466T>C (p.Asp2822=) rs1057523224 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8584+19T>C rs772128061 0.00001
NM_000051.4(ATM):c.8584+6C>G rs863224300 0.00001
NM_000051.4(ATM):c.8585-4C>A rs1555139447 0.00001
NM_000051.4(ATM):c.8595A>T (p.Ile2865=) rs777245630 0.00001
NM_000051.4(ATM):c.8671+15C>A rs1438943849 0.00001
NM_000051.4(ATM):c.8671+17A>G rs765608446 0.00001
NM_000051.4(ATM):c.8671+19G>C rs1308810219 0.00001
NM_000051.4(ATM):c.8672-19A>T rs1381779608 0.00001
NM_000051.4(ATM):c.8676T>A (p.Val2892=) rs1401097446 0.00001
NM_000051.4(ATM):c.8709T>C (p.Pro2903=) rs773208089 0.00001
NM_000051.4(ATM):c.8786+15G>A rs866338415 0.00001
NM_000051.4(ATM):c.8787-14G>A rs994348665 0.00001
NM_000051.4(ATM):c.8787-15T>C rs1057521788 0.00001
NM_000051.4(ATM):c.8787-4C>G rs944858078 0.00001
NM_000051.4(ATM):c.8820C>T (p.Asn2940=) rs775823407 0.00001
NM_000051.4(ATM):c.8844T>C (p.Ile2948=) rs878853551 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8850+17G>A rs1027667991 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8851-8C>T rs768937303 0.00001
NM_000051.4(ATM):c.8859A>G (p.Leu2953=) rs773994431 0.00001
NM_000051.4(ATM):c.8871C>G (p.Leu2957=) rs1555151266 0.00001
NM_000051.4(ATM):c.8902T>C (p.Leu2968=) rs775313366 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.8940T>G (p.Leu2980=) rs576335919 0.00001
NM_000051.4(ATM):c.8955T>C (p.Asn2985=) rs755561691 0.00001
NM_000051.4(ATM):c.8987+19A>G rs1403885730 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 0.00001
NM_000051.4(ATM):c.9049C>T (p.Leu3017=) rs876658991 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9072T>G (p.Thr3024=) rs1308894113 0.00001
NM_000051.4(ATM):c.9087T>G (p.Gly3029=) rs759675675 0.00001
NM_000051.4(ATM):c.5763-1048_5763-1036del
NM_000051.4(ATM):c.5763-1056G>C
NM_000051.4(ATM):c.5763-11T>C rs1057520675
NM_000051.4(ATM):c.5763-12A>G rs1057523388
NM_000051.4(ATM):c.5763-13C>T rs1057522554
NM_000051.4(ATM):c.5763-14_5763-13del rs1064794707
NM_000051.4(ATM):c.5763-15C>G
NM_000051.4(ATM):c.5763-17_5763-16del rs1064793040
NM_000051.4(ATM):c.5763-20T>G
NM_000051.4(ATM):c.5763-20_5763-18del rs777468149
NM_000051.4(ATM):c.5763-3T>C
NM_000051.4(ATM):c.5763-5T>C rs1555110219
NM_000051.4(ATM):c.5763-7T>C rs1555110216
NM_000051.4(ATM):c.5763-7T>G
NM_000051.4(ATM):c.5763-8T>G rs2136010657
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5766T>C (p.Pro1922=) rs2084022090
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
NM_000051.4(ATM):c.5784T>C (p.Phe1928=) rs1290871799
NM_000051.4(ATM):c.5787T>C (p.Asn1929=) rs1057520448
NM_000051.4(ATM):c.5790T>C (p.Asp1930=) rs1555110279
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
NM_000051.4(ATM):c.5815C>T (p.Leu1939=) rs2136014129
NM_000051.4(ATM):c.5820A>G (p.Glu1940=) rs2084028240
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
NM_000051.4(ATM):c.5844T>C (p.Cys1948=) rs776150043
NM_000051.4(ATM):c.5856T>C (p.Phe1952=) rs864622297
NM_000051.4(ATM):c.5859A>G (p.Thr1953=) rs1555110429
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.4(ATM):c.5868C>G (p.Leu1956=) rs540054724
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=) rs2136017191
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5889T>C (p.Asp1963=) rs1555110490
NM_000051.4(ATM):c.5895A>G (p.Lys1965=) rs1565490147
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
NM_000051.4(ATM):c.5916A>G (p.Lys1972=) rs2136019609
NM_000051.4(ATM):c.5918+12T>C rs2084042843
NM_000051.4(ATM):c.5918+13A>C
NM_000051.4(ATM):c.5918+14G>T rs2136020496
NM_000051.4(ATM):c.5918+16A>C
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5918+17T>G rs2136020727
NM_000051.4(ATM):c.5918+18T>G
NM_000051.4(ATM):c.5918+7G>C rs1423323603
NM_000051.4(ATM):c.5918+7del rs2136020073
NM_000051.4(ATM):c.5918+8A>C rs1401825950
NM_000051.4(ATM):c.5918+8A>G
NM_000051.4(ATM):c.5918+8A>T
NM_000051.4(ATM):c.5919-11G>A rs1555111746
NM_000051.4(ATM):c.5919-11G>C
NM_000051.4(ATM):c.5919-13T>C rs1555111740
NM_000051.4(ATM):c.5919-18_5919-15dup rs2136057696
NM_000051.4(ATM):c.5919-20G>A
NM_000051.4(ATM):c.5919-49C>T rs2084236076
NM_000051.4(ATM):c.5919-7_5919-6insCTGT rs1239985928
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
NM_000051.4(ATM):c.5943C>T (p.Ser1981=) rs769252226
NM_000051.4(ATM):c.5946G>A (p.Gln1982=) rs1591758349
NM_000051.4(ATM):c.5952A>G (p.Thr1984=)
NM_000051.4(ATM):c.5955T>C (p.Thr1985=) rs1555111801
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.5958T>A (p.Ile1986=) rs2136060867
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5967G>A (p.Leu1989=) rs1555111833
NM_000051.4(ATM):c.5979T>C (p.Ser1993=) rs1591758734
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
NM_000051.4(ATM):c.5985A>G (p.Glu1995=) rs2084252730
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
NM_000051.4(ATM):c.6003A>G (p.Leu2001=) rs1057523413
NM_000051.4(ATM):c.6006+10A>G rs2136063971
NM_000051.4(ATM):c.6006+11G>C rs1466545116
NM_000051.4(ATM):c.6006+17C>T
NM_000051.4(ATM):c.6006+19A>G
NM_000051.4(ATM):c.6006+20T>G
NM_000051.4(ATM):c.6006+7A>G rs1060504289
NM_000051.4(ATM):c.6007-10A>T rs373395916
NM_000051.4(ATM):c.6007-11C>T rs764191468
NM_000051.4(ATM):c.6007-13T>G
NM_000051.4(ATM):c.6007-17T>C rs2136116248
NM_000051.4(ATM):c.6007-19G>T
NM_000051.4(ATM):c.6007-4T>G rs1591776406
NM_000051.4(ATM):c.6007-5T>C rs863224294
NM_000051.4(ATM):c.6007-7T>C
NM_000051.4(ATM):c.6007-8G>C rs1057524058
NM_000051.4(ATM):c.6007-9T>C rs1591776333
NM_000051.4(ATM):c.6009T>C (p.Asp2003=) rs878853526
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)
NM_000051.4(ATM):c.6016T>C (p.Leu2006=) rs1555113531
NM_000051.4(ATM):c.6018A>G (p.Leu2006=) rs876659301
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
NM_000051.4(ATM):c.6048T>C (p.Asp2016=) rs2136119590
NM_000051.4(ATM):c.6052T>C (p.Leu2018=) rs2136119802
NM_000051.4(ATM):c.6060C>G (p.Gly2020=) rs2136120253
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)
NM_000051.4(ATM):c.6066T>A (p.Gly2022=)
NM_000051.4(ATM):c.6072G>A (p.Gly2024=) rs1591777129
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
NM_000051.4(ATM):c.6095+10A>G
NM_000051.4(ATM):c.6095+11T>G rs2136122672
NM_000051.4(ATM):c.6095+13T>C rs2136122778
NM_000051.4(ATM):c.6095+17T>C rs2136122949
NM_000051.4(ATM):c.6095+18A>T
NM_000051.4(ATM):c.6095+20A>C rs2136123062
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6095+6T>A rs1057522992
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6095+7T>A
NM_000051.4(ATM):c.6095+7T>C
NM_000051.4(ATM):c.6095+7T>G rs2136122461
NM_000051.4(ATM):c.6095+9C>A
NM_000051.4(ATM):c.6095+9del rs2136122631
NM_000051.4(ATM):c.6096-10T>C rs2136126453
NM_000051.4(ATM):c.6096-12C>T
NM_000051.4(ATM):c.6096-15A>C
NM_000051.4(ATM):c.6096-15A>T
NM_000051.4(ATM):c.6096-16C>A
NM_000051.4(ATM):c.6096-18C>G
NM_000051.4(ATM):c.6096-18C>T
NM_000051.4(ATM):c.6096-20T>C rs746766702
NM_000051.4(ATM):c.6096-20T>G rs746766702
NM_000051.4(ATM):c.6096-5T>C
NM_000051.4(ATM):c.6096-7C>G rs1173338615
NM_000051.4(ATM):c.6096-7C>T
NM_000051.4(ATM):c.6096A>G (p.Arg2032=) rs1591778359
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.4(ATM):c.6105A>T (p.Thr2035=) rs1555113708
NM_000051.4(ATM):c.6117A>G (p.Glu2039=) rs2136127840
NM_000051.4(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
NM_000051.4(ATM):c.6135C>T (p.Ala2045=) rs1555113771
NM_000051.4(ATM):c.6138A>G (p.Leu2046=) rs1591778887
NM_000051.4(ATM):c.6141A>G (p.Val2047=) rs978540099
NM_000051.4(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.4(ATM):c.6150C>T (p.Asp2050=) rs1057520805
NM_000051.4(ATM):c.6153C>G (p.Leu2051=) rs876658452
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)
NM_000051.4(ATM):c.6165C>A (p.Ile2055=) rs779848229
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)
NM_000051.4(ATM):c.6168C>T (p.Pro2056=) rs1057520449
NM_000051.4(ATM):c.6171A>G (p.Ser2057=)
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6180C>A (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6180C>T (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6195T>C (p.Ile2065=) rs756309395
NM_000051.4(ATM):c.6198+12C>A
NM_000051.4(ATM):c.6198+12C>T
NM_000051.4(ATM):c.6198+17A>C
NM_000051.4(ATM):c.6198+17A>G
NM_000051.4(ATM):c.6198+18T>C
NM_000051.4(ATM):c.6198+20T>C
NM_000051.4(ATM):c.6198+8T>G rs2136133343
NM_000051.4(ATM):c.6198+9_6198+12del rs1451367847
NM_000051.4(ATM):c.6199-10T>G rs2084770572
NM_000051.4(ATM):c.6199-4T>G rs2136162102
NM_000051.4(ATM):c.6199-5T>A rs1555114533
NM_000051.4(ATM):c.6199-6G>C rs1555114529
NM_000051.4(ATM):c.6199-6G>T rs1555114529
NM_000051.4(ATM):c.6199-8C>T rs1254806505
NM_000051.4(ATM):c.6199-9C>A rs1060501611
NM_000051.4(ATM):c.6199-9C>G
NM_000051.4(ATM):c.6201C>T (p.Ala2067=) rs2136162415
NM_000051.4(ATM):c.6202T>C (p.Leu2068=) rs2136162514
NM_000051.4(ATM):c.6211T>C (p.Leu2071=) rs928129862
NM_000051.4(ATM):c.6216A>T (p.Gly2072=) rs2136163345
NM_000051.4(ATM):c.6225T>C (p.His2075=)
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=) rs1383950977
NM_000051.4(ATM):c.6252G>A (p.Leu2084=) rs876658700
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=) rs1565502999
NM_000051.4(ATM):c.6264T>C (p.Asn2088=) rs747372417
NM_000051.4(ATM):c.6276T>C (p.Cys2092=) rs2136166722
NM_000051.4(ATM):c.6279T>C (p.Pro2093=) rs141370828
NM_000051.4(ATM):c.6282A>G (p.Glu2094=)
NM_000051.4(ATM):c.6283C>T (p.Leu2095=) rs2084785926
NM_000051.4(ATM):c.6285A>G (p.Leu2095=) rs1555114732
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
NM_000051.4(ATM):c.6306A>C (p.Ala2102=) rs2136168477
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
NM_000051.4(ATM):c.6309A>G (p.Ala2103=) rs2084789463
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6339T>C (p.Thr2113=)
NM_000051.4(ATM):c.6347+10T>A rs2136171374
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+9T>G
NM_000051.4(ATM):c.6348-12C>T rs1057521664
NM_000051.4(ATM):c.6348-14_6348-10del
NM_000051.4(ATM):c.6348-17T>G rs2136217719
NM_000051.4(ATM):c.6348-18C>A
NM_000051.4(ATM):c.6348-18C>G rs1175043012
NM_000051.4(ATM):c.6348-18C>T
NM_000051.4(ATM):c.6348-19T>A
NM_000051.4(ATM):c.6348-19T>C
NM_000051.4(ATM):c.6348-4A>G rs1591099510
NM_000051.4(ATM):c.6348-5C>T rs1388651064
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-7C>T
NM_000051.4(ATM):c.6348-8T>A
NM_000051.4(ATM):c.6348-9A>G rs1591099349
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6354A>G (p.Glu2118=) rs2136218685
NM_000051.4(ATM):c.6357A>G (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=) rs904589402
NM_000051.4(ATM):c.6375T>C (p.His2125=) rs1591099942
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6384G>A (p.Leu2128=) rs1060501629
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=) rs2085081161
NM_000051.4(ATM):c.6390T>C (p.Asn2130=) rs1555116433
NM_000051.4(ATM):c.6393T>C (p.Ala2131=) rs1591100144
NM_000051.4(ATM):c.6399A>G (p.Gln2133=) rs750614487
NM_000051.4(ATM):c.6403C>T (p.Leu2135=)
NM_000051.4(ATM):c.6405A>G (p.Leu2135=) rs2085084061
NM_000051.4(ATM):c.6405A>T (p.Leu2135=)
NM_000051.4(ATM):c.6412A>C (p.Arg2138=) rs752069869
NM_000051.4(ATM):c.6414A>G (p.Arg2138=) rs1591100396
NM_000051.4(ATM):c.6417A>G (p.Glu2139=) rs2136221364
NM_000051.4(ATM):c.6426A>G (p.Thr2142=) rs1591100486
NM_000051.4(ATM):c.6429T>C (p.Phe2143=) rs2136221811
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
NM_000051.4(ATM):c.6450C>T (p.Ala2150=) rs2136222693
NM_000051.4(ATM):c.6452+11A>C
NM_000051.4(ATM):c.6452+11_6452+12del rs1187485566
NM_000051.4(ATM):c.6452+16A>T
NM_000051.4(ATM):c.6452+17A>C rs371044809
NM_000051.4(ATM):c.6452+17A>T rs371044809
NM_000051.4(ATM):c.6452+17_6452+18del
NM_000051.4(ATM):c.6452+19dup
NM_000051.4(ATM):c.6452+21del rs2136223606
NM_000051.4(ATM):c.6452+7T>C rs1555116551
NM_000051.4(ATM):c.6452+8G>A rs2136223026
NM_000051.4(ATM):c.6452+9A>G rs771531015
NM_000051.4(ATM):c.6453-13T>C rs1555117056
NM_000051.4(ATM):c.6453-13T>G
NM_000051.4(ATM):c.6453-14T>A rs1380071831
NM_000051.4(ATM):c.6453-14T>C
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6459A>G (p.Lys2153=)
NM_000051.4(ATM):c.6462A>G (p.Glu2154=) rs756453090
NM_000051.4(ATM):c.6480G>A (p.Lys2160=) rs2136239159
NM_000051.4(ATM):c.6498G>A (p.Val2166=) rs746514937
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=) rs1204851027
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
NM_000051.4(ATM):c.6510T>C (p.Tyr2170=)
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6519T>G (p.Leu2173=) rs2136240892
NM_000051.4(ATM):c.6523A>C (p.Arg2175=) rs2085199556
NM_000051.4(ATM):c.6525G>A (p.Arg2175=) rs1555117190
NM_000051.4(ATM):c.6528G>A (p.Leu2176=) rs2136241451
NM_000051.4(ATM):c.6531G>A (p.Gln2177=) rs2136241619
NM_000051.4(ATM):c.6534C>T (p.Ala2178=) rs1555117210
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)
NM_000051.4(ATM):c.6546G>A (p.Leu2182=) rs756551824
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6555T>C (p.Ile2185=) rs1591107794
NM_000051.4(ATM):c.6572+10T>G rs2136243985
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6572+12G>C
NM_000051.4(ATM):c.6572+12del rs1555117290
NM_000051.4(ATM):c.6572+15T>C
NM_000051.4(ATM):c.6572+17A>C rs1555117296
NM_000051.4(ATM):c.6572+17A>G
NM_000051.4(ATM):c.6572+18C>G
NM_000051.4(ATM):c.6572+18C>T rs2085210231
NM_000051.4(ATM):c.6572+20_6572+21del rs1064793041
NM_000051.4(ATM):c.6572+7A>C rs2136243916
NM_000051.4(ATM):c.6572+7A>G
NM_000051.4(ATM):c.6572+9T>A rs2136243962
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-12C>G rs1057521666
NM_000051.4(ATM):c.6573-12C>T rs1057521666
NM_000051.4(ATM):c.6573-13T>A
NM_000051.4(ATM):c.6573-16_6573-15del rs1064794351
NM_000051.4(ATM):c.6573-5T>C
NM_000051.4(ATM):c.6573-8G>A rs1555118989
NM_000051.4(ATM):c.6573-8G>T rs1555118989
NM_000051.4(ATM):c.6576A>G (p.Ser2192=) rs2136306809
NM_000051.4(ATM):c.6582A>G (p.Thr2194=)
NM_000051.4(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.4(ATM):c.6586A>C (p.Arg2196=) rs1555119011
NM_000051.4(ATM):c.6588A>G (p.Arg2196=) rs2136307484
NM_000051.4(ATM):c.6591A>G (p.Gln2197=) rs863224296
NM_000051.4(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=) rs1367617850
NM_000051.4(ATM):c.6612G>A (p.Lys2204=) rs876660650
NM_000051.4(ATM):c.6627C>G (p.Ser2209=) rs2085556098
NM_000051.4(ATM):c.6636C>A (p.Leu2212=) rs876659563
NM_000051.4(ATM):c.6636C>G (p.Leu2212=)
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)
NM_000051.4(ATM):c.6666T>C (p.Pro2222=) rs1591128954
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
NM_000051.4(ATM):c.6676C>T (p.Leu2226=) rs745709682
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6693G>A (p.Leu2231=) rs2136313009
NM_000051.4(ATM):c.6699C>T (p.Ile2233=) rs1555119149
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)
NM_000051.4(ATM):c.6720C>T (p.Asp2240=)
NM_000051.4(ATM):c.6723C>T (p.Asn2241=) rs750763671
NM_000051.4(ATM):c.6726A>G (p.Ser2242=) rs878853534
NM_000051.4(ATM):c.6729A>G (p.Gln2243=) rs763431129
NM_000051.4(ATM):c.6735A>G (p.Glu2245=) rs2136315259
NM_000051.4(ATM):c.6738T>C (p.Cys2246=) rs2136315409
NM_000051.4(ATM):c.6753C>T (p.Leu2251=) rs1057521515
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
NM_000051.4(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.4(ATM):c.6765T>C (p.Leu2255=) rs587780637
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)
NM_000051.4(ATM):c.6777T>C (p.Ser2259=) rs1057522874
NM_000051.4(ATM):c.6792T>A (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6792T>C (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6801C>T (p.Asn2267=) rs1591130210
NM_000051.4(ATM):c.6807+11T>C
NM_000051.4(ATM):c.6807+20_6807+21del rs1555119392
NM_000051.4(ATM):c.6807+8C>A rs1565519254
NM_000051.4(ATM):c.6807+8C>T rs1565519254
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-10T>C rs2136330431
NM_000051.4(ATM):c.6808-14C>G
NM_000051.4(ATM):c.6808-14C>T rs932081789
NM_000051.4(ATM):c.6808-17T>A
NM_000051.4(ATM):c.6808-18A>G
NM_000051.4(ATM):c.6808-18A>T rs1166582977
NM_000051.4(ATM):c.6808-18_6808-10del
NM_000051.4(ATM):c.6808-18_6808-17del rs2136330085
NM_000051.4(ATM):c.6808-6_6808-2del rs2085643760
NM_000051.4(ATM):c.6808-7A>G rs2085644108
NM_000051.4(ATM):c.6808-8C>G
NM_000051.4(ATM):c.6808-9T>C
NM_000051.4(ATM):c.6810C>T (p.Leu2270=) rs1060504305
NM_000051.4(ATM):c.6813T>C (p.Pro2271=) rs1555119714
NM_000051.4(ATM):c.6816A>G (p.Glu2272=) rs1555119726
NM_000051.4(ATM):c.6822A>G (p.Ala2274=)
NM_000051.4(ATM):c.6831A>G (p.Gln2277=) rs1339794219
NM_000051.4(ATM):c.6840G>A (p.Gln2280=) rs2136332740
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
NM_000051.4(ATM):c.6861A>C (p.Gly2287=) rs2136333918
NM_000051.4(ATM):c.6864C>G (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6864C>T (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6870G>A (p.Glu2290=) rs1555119845
NM_000051.4(ATM):c.6876G>A (p.Gln2292=)
NM_000051.4(ATM):c.6882A>G (p.Glu2294=) rs1555119866
NM_000051.4(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.4(ATM):c.6888A>C (p.Ala2296=)
NM_000051.4(ATM):c.6888A>G (p.Ala2296=)
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.4(ATM):c.6894A>G (p.Val2298=) rs2136335688
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
NM_000051.4(ATM):c.6918T>C (p.Ser2306=) rs1555119959
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)
NM_000051.4(ATM):c.6921T>G (p.Leu2307=) rs1555119966
NM_000051.4(ATM):c.6924C>T (p.Ala2308=) rs759878732
NM_000051.4(ATM):c.6927G>A (p.Leu2309=) rs876660429
NM_000051.4(ATM):c.6927G>C (p.Leu2309=)
NM_000051.4(ATM):c.6930T>C (p.Ser2310=) rs876660710
NM_000051.4(ATM):c.6951G>A (p.Lys2317=) rs1591134349
NM_000051.4(ATM):c.6954G>A (p.Lys2318=) rs1555120044
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)
NM_000051.4(ATM):c.6963C>T (p.Ala2321=) rs1555120057
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6975+14del rs2136341824
NM_000051.4(ATM):c.6975+14dup rs1555120120
NM_000051.4(ATM):c.6975+18G>C rs2136342020
NM_000051.4(ATM):c.6975+18G>T
NM_000051.4(ATM):c.6975+20T>A
NM_000051.4(ATM):c.6975+20T>C rs781322757
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+7T>C
NM_000051.4(ATM):c.6975+7T>G rs754834282
NM_000051.4(ATM):c.6975+8T>C rs2136341429
NM_000051.4(ATM):c.6975+9T>G
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-10T>C
NM_000051.4(ATM):c.6976-11T>A rs1565523441
NM_000051.4(ATM):c.6976-11T>C rs1565523441
NM_000051.4(ATM):c.6976-16T>C
NM_000051.4(ATM):c.6976-19T>C rs1026199027
NM_000051.4(ATM):c.6976-4A>G rs2136372366
NM_000051.4(ATM):c.6976-4A>T
NM_000051.4(ATM):c.6976-5T>C rs1555120913
NM_000051.4(ATM):c.6976-6A>G rs2136372183
NM_000051.4(ATM):c.6976-6A>T rs2136372183
NM_000051.4(ATM):c.6976-8T>A rs2136372089
NM_000051.4(ATM):c.6976-9C>A
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6990A>G (p.Leu2330=) rs2136373497
NM_000051.4(ATM):c.6996T>C (p.Leu2332=)
NM_000051.4(ATM):c.6996T>G (p.Leu2332=) rs2136373865
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.4(ATM):c.7005A>G (p.Thr2335=) rs1555120978
NM_000051.4(ATM):c.7008A>G (p.Glu2336=) rs2136374637
NM_000051.4(ATM):c.7011T>C (p.Cys2337=) rs878853536
NM_000051.4(ATM):c.7012C>T (p.Leu2338=) rs1555120990
NM_000051.4(ATM):c.7015A>C (p.Arg2339=) rs752531255
NM_000051.4(ATM):c.7023T>C (p.Cys2341=) rs878853537
NM_000051.4(ATM):c.7029C>T (p.Asn2343=) rs1251099495
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7044G>T (p.Thr2348=) rs140104789
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)
NM_000051.4(ATM):c.7048T>C (p.Leu2350=) rs2136377415
NM_000051.4(ATM):c.7050A>G (p.Leu2350=) rs1555121076
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
NM_000051.4(ATM):c.7062G>C (p.Ala2354=) rs143489373
NM_000051.4(ATM):c.7065C>T (p.Val2355=) rs2136378354
NM_000051.4(ATM):c.7077C>T (p.Thr2359=) rs1555121132
NM_000051.4(ATM):c.7081C>T (p.Leu2361=) rs1412288141
NM_000051.4(ATM):c.7089+12G>T
NM_000051.4(ATM):c.7089+15G>A
NM_000051.4(ATM):c.7089+16C>A
NM_000051.4(ATM):c.7089+19C>A
NM_000051.4(ATM):c.7089+7T>G
NM_000051.4(ATM):c.7090-12G>A
NM_000051.4(ATM):c.7090-12G>C
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-14G>T rs1486032156
NM_000051.4(ATM):c.7090-16T>C
NM_000051.4(ATM):c.7090-17G>A
NM_000051.4(ATM):c.7090-17G>C rs1555121895
NM_000051.4(ATM):c.7090-17G>T rs1555121895
NM_000051.4(ATM):c.7090-18G>T
NM_000051.4(ATM):c.7090-19T>G rs2136408437
NM_000051.4(ATM):c.7090-6T>C rs2085972331
NM_000051.4(ATM):c.7090-9T>C rs2136409178
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7107A>G (p.Gly2369=) rs1057523056
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=) rs760534895
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
NM_000051.4(ATM):c.7125T>C (p.Ser2375=) rs878853539
NM_000051.4(ATM):c.7128T>C (p.Ser2376=) rs2136412428
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
NM_000051.4(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.4(ATM):c.7155G>A (p.Lys2385=) rs878853540
NM_000051.4(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7164C>T (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
NM_000051.4(ATM):c.7179T>C (p.Phe2393=) rs1057520430
NM_000051.4(ATM):c.7182A>C (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>G (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>T (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
NM_000051.4(ATM):c.7198A>C (p.Arg2400=) rs777423778
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7218A>G (p.Lys2406=) rs1321705346
NM_000051.4(ATM):c.7221A>C (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7221A>T (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7236C>T (p.Asn2412=)
NM_000051.4(ATM):c.7239G>A (p.Lys2413=) rs1555122182
NM_000051.4(ATM):c.7242A>G (p.Gln2414=) rs761907546
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7251G>A (p.Leu2417=) rs2136420487
NM_000051.4(ATM):c.7257A>G (p.Arg2419=) rs1591151857
NM_000051.4(ATM):c.7263A>G (p.Lys2421=) rs1555122232
NM_000051.4(ATM):c.7278C>T (p.Leu2426=) rs2136422492
NM_000051.4(ATM):c.7281T>C (p.Leu2427=) rs1239369148
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
NM_000051.4(ATM):c.7290T>C (p.His2430=) rs876658715
NM_000051.4(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.4(ATM):c.7302A>G (p.Thr2434=) rs752125292
NM_000051.4(ATM):c.7307+14T>C
NM_000051.4(ATM):c.7307+15A>G
NM_000051.4(ATM):c.7307+17A>T
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+19G>T
NM_000051.4(ATM):c.7307+19del
NM_000051.4(ATM):c.7307+20T>C
NM_000051.4(ATM):c.7307+7A>G
NM_000051.4(ATM):c.7307+8G>C rs1057523631
NM_000051.4(ATM):c.7308-10T>C rs745319720
NM_000051.4(ATM):c.7308-10dup rs1555122910
NM_000051.4(ATM):c.7308-11T>C rs1565529149
NM_000051.4(ATM):c.7308-15_7308-12dup rs2136450158
NM_000051.4(ATM):c.7308-17T>C
NM_000051.4(ATM):c.7308-17T>G
NM_000051.4(ATM):c.7308-19C>A rs2136449985
NM_000051.4(ATM):c.7308-20_7308-16del rs2136449779
NM_000051.4(ATM):c.7308-4C>T
NM_000051.4(ATM):c.7308-5G>A rs2086108867
NM_000051.4(ATM):c.7308-8T>C rs1555122924
NM_000051.4(ATM):c.7308-8T>G
NM_000051.4(ATM):c.7308-9C>A rs878853541
NM_000051.4(ATM):c.7308-9C>T rs878853541
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=) rs763470424
NM_000051.4(ATM):c.7333C>T (p.Leu2445=) rs763068664
NM_000051.4(ATM):c.7335G>A (p.Leu2445=) rs2136453475
NM_000051.4(ATM):c.7339T>C (p.Leu2447=) rs1591159997
NM_000051.4(ATM):c.7347A>G (p.Glu2449=) rs2136454257
NM_000051.4(ATM):c.7350A>G (p.Leu2450=)
NM_000051.4(ATM):c.7353C>T (p.Ala2451=) rs1591160115
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
NM_000051.4(ATM):c.7362A>C (p.Ala2454=) rs1591160216
NM_000051.4(ATM):c.7365G>A (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7365G>C (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7368A>G (p.Lys2456=) rs2136455679
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7389A>G (p.Leu2463=) rs2136457026
NM_000051.4(ATM):c.7398A>G (p.Ala2466=) rs2136457427
NM_000051.4(ATM):c.7401T>G (p.Val2467=) rs1565529761
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=) rs1555123144
NM_000051.4(ATM):c.7420T>C (p.Leu2474=) rs1555123149
NM_000051.4(ATM):c.7422A>G (p.Leu2474=) rs1591160792
NM_000051.4(ATM):c.7423T>C (p.Leu2475=) rs2136459027
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.7434A>G (p.Glu2478=) rs1555123171
NM_000051.4(ATM):c.7437A>G (p.Glu2479=) rs1591160964
NM_000051.4(ATM):c.7443T>C (p.Asp2481=) rs1555123181
NM_000051.4(ATM):c.7452A>G (p.Val2484=) rs2136460667
NM_000051.4(ATM):c.7461T>G (p.Leu2487=)
NM_000051.4(ATM):c.7464T>C (p.Cys2488=) rs1555123227
NM_000051.4(ATM):c.7467C>A (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7467C>T (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.4(ATM):c.7476T>G (p.Leu2492=) rs2136462119
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.7515+14A>C
NM_000051.4(ATM):c.7515+14A>G
NM_000051.4(ATM):c.7515+18C>A
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7515+22_7515+23del rs2136466787
NM_000051.4(ATM):c.7515+7G>A rs2136465577
NM_000051.4(ATM):c.7515+9T>A rs1465593444
NM_000051.4(ATM):c.7515+9T>G rs1465593444
NM_000051.4(ATM):c.7516-11T>G
NM_000051.4(ATM):c.7516-13T>G rs2136489988
NM_000051.4(ATM):c.7516-14T>A
NM_000051.4(ATM):c.7516-14T>C rs1254619756
NM_000051.4(ATM):c.7516-16T>C rs2086218796
NM_000051.4(ATM):c.7516-16T>G
NM_000051.4(ATM):c.7516-18T>A
NM_000051.4(ATM):c.7516-20T>C
NM_000051.4(ATM):c.7516-20T>G rs2136489275
NM_000051.4(ATM):c.7516-4G>T rs876660105
NM_000051.4(ATM):c.7516-6T>C rs1057521003
NM_000051.4(ATM):c.7516-7del rs1591166840
NM_000051.4(ATM):c.7516-8A>T rs2136490103
NM_000051.4(ATM):c.7516-9T>A rs2086219990
NM_000051.4(ATM):c.7518A>G (p.Arg2506=) rs2086221982
NM_000051.4(ATM):c.7533T>C (p.Ile2511=) rs786201279
NM_000051.4(ATM):c.7536A>G (p.Pro2512=) rs786202802
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
NM_000051.4(ATM):c.7539A>T (p.Thr2513=)
NM_000051.4(ATM):c.7557T>C (p.Leu2519=) rs1060504266
NM_000051.4(ATM):c.7567T>C (p.Leu2523=) rs1565532289
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)
NM_000051.4(ATM):c.7587C>T (p.Thr2529=) rs890244103
NM_000051.4(ATM):c.7599A>G (p.Gly2533=) rs2136497122
NM_000051.4(ATM):c.7605A>G (p.Leu2535=) rs1591167954
NM_000051.4(ATM):c.7614T>C (p.His2538=)
NM_000051.4(ATM):c.7623C>T (p.Leu2541=) rs2086235791
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)
NM_000051.4(ATM):c.7629+12T>G
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7629+13G>A rs563651647
NM_000051.4(ATM):c.7629+14A>C
NM_000051.4(ATM):c.7629+14A>G rs2136500635
NM_000051.4(ATM):c.7629+7A>T
NM_000051.4(ATM):c.7629+9A>C rs2136500176
NM_000051.4(ATM):c.7630-11T>C
NM_000051.4(ATM):c.7630-12C>A
NM_000051.4(ATM):c.7630-16A>G rs2136513501
NM_000051.4(ATM):c.7630-16_7630-10del rs2136513424
NM_000051.4(ATM):c.7630-16_7630-14del
NM_000051.4(ATM):c.7630-19A>C
NM_000051.4(ATM):c.7630-19A>G
NM_000051.4(ATM):c.7630-7C>T rs730881276
NM_000051.4(ATM):c.7632A>C (p.Leu2544=) rs1363431568
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
NM_000051.4(ATM):c.7647A>T (p.Ser2549=) rs1591171175
NM_000051.4(ATM):c.7653T>C (p.Asp2551=)
NM_000051.4(ATM):c.7656C>T (p.His2552=) rs1555124473
NM_000051.4(ATM):c.7659C>T (p.Pro2553=) rs1591171386
NM_000051.4(ATM):c.7665C>T (p.His2555=) rs908781160
NM_000051.4(ATM):c.7674T>C (p.Phe2558=) rs1291388225
NM_000051.4(ATM):c.7677T>C (p.Ile2559=) rs2136519388
NM_000051.4(ATM):c.7681C>T (p.Leu2561=) rs1060504314
NM_000051.4(ATM):c.7683G>C (p.Leu2561=) rs2136519792
NM_000051.4(ATM):c.7695T>C (p.Asn2565=) rs2086296795
NM_000051.4(ATM):c.7698A>G (p.Ala2566=)
NM_000051.4(ATM):c.7701C>T (p.Asn2567=) rs786201637
NM_000051.4(ATM):c.7710A>G (p.Glu2570=) rs760215505
NM_000051.4(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.4(ATM):c.7719T>G (p.Thr2573=) rs2136523339
NM_000051.4(ATM):c.7731A>G (p.Val2577=) rs2136524528
NM_000051.4(ATM):c.7734C>G (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7734C>T (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7735A>C (p.Arg2579=) rs2136524882
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
NM_000051.4(ATM):c.7749A>T (p.Ile2583=) rs2136526242
NM_000051.4(ATM):c.7752T>C (p.Thr2584=) rs2136526454
NM_000051.4(ATM):c.7758T>C (p.Asn2586=) rs2136526693
NM_000051.4(ATM):c.7764T>A (p.Pro2588=) rs1591172609
NM_000051.4(ATM):c.7770A>G (p.Gln2590=) rs864622437
NM_000051.4(ATM):c.7773C>T (p.Ser2591=) rs1045232065
NM_000051.4(ATM):c.7776T>G (p.Ser2592=)
NM_000051.4(ATM):c.7782T>A (p.Leu2594=) rs905474729
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7788+10T>C rs1555124759
NM_000051.4(ATM):c.7788+10T>G rs1555124759
NM_000051.4(ATM):c.7788+12A>T rs1555124760
NM_000051.4(ATM):c.7788+18_7788+19del
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7788+20G>T
NM_000051.4(ATM):c.7788+20_7788+24del
NM_000051.4(ATM):c.7788+8G>C
NM_000051.4(ATM):c.7788+9A>G rs1182105888
NM_000051.4(ATM):c.7789-11T>C
NM_000051.4(ATM):c.7789-14T>C
NM_000051.4(ATM):c.7789-16T>C
NM_000051.4(ATM):c.7789-16T>G
NM_000051.4(ATM):c.7789-19T>C rs560800769
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-5A>C
NM_000051.4(ATM):c.7789-5A>G
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7789-9T>C
NM_000051.4(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.4(ATM):c.7797A>G (p.Thr2599=) rs2086405045
NM_000051.4(ATM):c.7800G>A (p.Glu2600=) rs1591178097
NM_000051.4(ATM):c.7809T>C (p.Asn2603=) rs2136562134
NM_000051.4(ATM):c.7827C>T (p.Ile2609=) rs768423205
NM_000051.4(ATM):c.7828A>C (p.Arg2610=)
NM_000051.4(ATM):c.7833T>C (p.Ser2611=) rs2136564372
NM_000051.4(ATM):c.7834A>C (p.Arg2612=) rs1305691166
NM_000051.4(ATM):c.7836G>A (p.Arg2612=) rs761324887
NM_000051.4(ATM):c.7842T>G (p.Pro2614=) rs876660827
NM_000051.4(ATM):c.7860T>G (p.Val2620=) rs1555125353
NM_000051.4(ATM):c.7878T>G (p.Ala2626=) rs2086422316
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=) rs2086423868
NM_000051.4(ATM):c.7899A>G (p.Leu2633=) rs2086426925
NM_000051.4(ATM):c.7911G>A (p.Gln2637=) rs2136572151
NM_000051.4(ATM):c.7917G>A (p.Lys2639=) rs1555125501
NM_000051.4(ATM):c.7927+12T>C
NM_000051.4(ATM):c.7927+13T>C
NM_000051.4(ATM):c.7927+14A>C rs770850205
NM_000051.4(ATM):c.7927+14A>G rs770850205
NM_000051.4(ATM):c.7927+14A>T
NM_000051.4(ATM):c.7927+16A>C rs746438364
NM_000051.4(ATM):c.7927+17G>A rs774276048
NM_000051.4(ATM):c.7927+20G>T
NM_000051.4(ATM):c.7928-15C>A
NM_000051.4(ATM):c.7928-18C>G
NM_000051.4(ATM):c.7928-18C>T
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7928-4A>G rs876658629
NM_000051.4(ATM):c.7928-5T>C rs1591183992
NM_000051.4(ATM):c.7928-7A>T
NM_000051.4(ATM):c.7928-9T>C rs1060504261
NM_000051.4(ATM):c.7947A>C (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7947A>G (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7950C>T (p.Asp2650=) rs1060504298
NM_000051.4(ATM):c.7959T>C (p.Ile2653=) rs2136613483
NM_000051.4(ATM):c.7968T>C (p.Leu2656=) rs1591184410
NM_000051.4(ATM):c.7971G>A (p.Lys2657=)
NM_000051.4(ATM):c.7977A>G (p.Leu2659=) rs2136615106
NM_000051.4(ATM):c.7992C>T (p.Val2664=) rs1591184637
NM_000051.4(ATM):c.7995T>A (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7995T>G (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.8010+11A>C rs760588708
NM_000051.4(ATM):c.8010+11A>G
NM_000051.4(ATM):c.8010+14A>T rs2136618870
NM_000051.4(ATM):c.8010+18C>A rs2086560371
NM_000051.4(ATM):c.8010+18C>G
NM_000051.4(ATM):c.8010+18_8010+19del rs750095790
NM_000051.4(ATM):c.8010+19T>C rs1555126346
NM_000051.4(ATM):c.8010+19T>G
NM_000051.4(ATM):c.8010+20T>C rs2136619908
NM_000051.4(ATM):c.8010+21_8010+24del
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCTTGATTTTTTTT rs2136618959
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8010+9C>T
NM_000051.4(ATM):c.8011-12T>C rs2136651285
NM_000051.4(ATM):c.8011-13A>T
NM_000051.4(ATM):c.8011-16T>C rs776948701
NM_000051.4(ATM):c.8011-20C>A
NM_000051.4(ATM):c.8011-20C>T
NM_000051.4(ATM):c.8011-4_8011-2del rs2136651774
NM_000051.4(ATM):c.8011-6T>C rs762092284
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8011-7T>C rs2136651700
NM_000051.4(ATM):c.8011-8T>G rs1189310621
NM_000051.4(ATM):c.8011-9T>C rs1591190803
NM_000051.4(ATM):c.8016C>T (p.Asp2672=) rs1591191019
NM_000051.4(ATM):c.8028A>G (p.Glu2676=) rs1389648050
NM_000051.4(ATM):c.8043G>T (p.Val2681=)
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8074T>C (p.Leu2692=)
NM_000051.4(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.4(ATM):c.8085T>C (p.Gly2695=)
NM_000051.4(ATM):c.8088A>G (p.Val2696=) rs2136659987
NM_000051.4(ATM):c.8091T>C (p.Asn2697=) rs756887364
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8103A>T (p.Ile2701=) rs779803253
NM_000051.4(ATM):c.8115A>C (p.Val2705=) rs1188411746
NM_000051.4(ATM):c.8118T>C (p.Gly2706=) rs1057520990
NM_000051.4(ATM):c.8124T>C (p.Asp2708=) rs587781990
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
NM_000051.4(ATM):c.8133G>A (p.Glu2711=) rs1591192322
NM_000051.4(ATM):c.8145T>C (p.Leu2715=)
NM_000051.4(ATM):c.8151+11C>A rs555381912
NM_000051.4(ATM):c.8151+11_8151+17del
NM_000051.4(ATM):c.8151+13T>G
NM_000051.4(ATM):c.8151+17C>T rs761029795
NM_000051.4(ATM):c.8151+3G>A rs760065522
NM_000051.4(ATM):c.8152-11T>C rs2136690464
NM_000051.4(ATM):c.8152-17del rs2136689987
NM_000051.4(ATM):c.8152-18T>C
NM_000051.4(ATM):c.8152-20C>G
NM_000051.4(ATM):c.8152-20C>T rs1555128158
NM_000051.4(ATM):c.8152-4G>A
NM_000051.4(ATM):c.8152-4G>C
NM_000051.4(ATM):c.8152-5T>C
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>C
NM_000051.4(ATM):c.8152-9A>G rs1555128181
NM_000051.4(ATM):c.8152-9A>T
NM_000051.4(ATM):c.8154C>G (p.Gly2718=) rs371021126
NM_000051.4(ATM):c.8157T>C (p.Arg2719=) rs2136691533
NM_000051.4(ATM):c.8166G>C (p.Leu2722=)
NM_000051.4(ATM):c.8178T>G (p.Ala2726=) rs367575159
NM_000051.4(ATM):c.8181C>T (p.Val2727=) rs2136693653
NM_000051.4(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.4(ATM):c.8193C>A (p.Val2731=) rs1060504307
NM_000051.4(ATM):c.8205T>C (p.Cys2735=) rs2136696071
NM_000051.4(ATM):c.8208T>C (p.Asn2736=) rs1057523318
NM_000051.4(ATM):c.8211A>G (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8215C>T (p.Leu2739=) rs1060504311
NM_000051.4(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.4(ATM):c.8220G>A (p.Gln2740=) rs1060504313
NM_000051.4(ATM):c.8226C>T (p.Asn2742=) rs2136697809
NM_000051.4(ATM):c.8235T>C (p.Thr2745=) rs2136698319
NM_000051.4(ATM):c.8244G>A (p.Arg2748=) rs1591199166
NM_000051.4(ATM):c.8259T>C (p.Cys2753=)
NM_000051.4(ATM):c.8262T>G (p.Thr2754=) rs1057521506
NM_000051.4(ATM):c.8268+14C>T rs1057520231
NM_000051.4(ATM):c.8268+15T>A rs1555128691
NM_000051.4(ATM):c.8268+15T>G rs1555128691
NM_000051.4(ATM):c.8268+17_8268+18del
NM_000051.4(ATM):c.8268+19G>T rs1415660878
NM_000051.4(ATM):c.8268+22_8268+25del rs746285826
NM_000051.4(ATM):c.8268+7A>G rs1057524565
NM_000051.4(ATM):c.8268+7A>T rs1057524565
NM_000051.4(ATM):c.8268+8T>A rs1263247290
NM_000051.4(ATM):c.8268+8T>G
NM_000051.4(ATM):c.8268+9T>C rs2136701769
NM_000051.4(ATM):c.8269-10G>A
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-12C>G
NM_000051.4(ATM):c.8269-12C>T
NM_000051.4(ATM):c.8269-13del rs2136938446
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8269-19del
NM_000051.4(ATM):c.8269-20T>C
NM_000051.4(ATM):c.8269-5T>G rs1555135331
NM_000051.4(ATM):c.8269-6C>T rs1284643640
NM_000051.4(ATM):c.8269-6dup
NM_000051.4(ATM):c.8269-9T>C rs2136938827
NM_000051.4(ATM):c.8277C>T (p.Pro2759=) rs878853548
NM_000051.4(ATM):c.8283T>G (p.Ser2761=) rs1591247541
NM_000051.4(ATM):c.8289A>G (p.Arg2763=) rs2136941755
NM_000051.4(ATM):c.8292T>C (p.Ser2764=) rs781690523
NM_000051.4(ATM):c.8301T>C (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8301T>G (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8313A>G (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8319T>C (p.Thr2773=) rs1591248170
NM_000051.4(ATM):c.8322C>A (p.Val2774=) rs1060504267
NM_000051.4(ATM):c.8322C>T (p.Val2774=)
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)
NM_000051.4(ATM):c.8346C>T (p.Asn2782=) rs999357615
NM_000051.4(ATM):c.8367A>G (p.Lys2789=) rs1393366622
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=) rs1060504292
NM_000051.4(ATM):c.8379A>G (p.Pro2793=)
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
NM_000051.4(ATM):c.8394C>T (p.Ala2798=) rs2136951901
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
NM_000051.4(ATM):c.8403C>T (p.Cys2801=) rs1555135852
NM_000051.4(ATM):c.8406A>G (p.Gln2802=) rs2136952999
NM_000051.4(ATM):c.8418+11C>G
NM_000051.4(ATM):c.8418+12C>A
NM_000051.4(ATM):c.8418+12C>T
NM_000051.4(ATM):c.8418+13C>G
NM_000051.4(ATM):c.8418+14A>C rs1555135939
NM_000051.4(ATM):c.8418+15A>C rs1565558731
NM_000051.4(ATM):c.8418+15A>G
NM_000051.4(ATM):c.8418+17A>G rs2136955270
NM_000051.4(ATM):c.8418+18T>C
NM_000051.4(ATM):c.8418+681A>C
NM_000051.4(ATM):c.8418+7G>A rs2136954579
NM_000051.4(ATM):c.8418+7G>T
NM_000051.4(ATM):c.8418+8A>G rs1591249687
NM_000051.4(ATM):c.8418+8A>T rs1591249687
NM_000051.4(ATM):c.8418+9C>T
NM_000051.4(ATM):c.8419-10C>G rs2137022388
NM_000051.4(ATM):c.8419-11T>C
NM_000051.4(ATM):c.8419-14T>A
NM_000051.4(ATM):c.8419-14T>C rs1441150092
NM_000051.4(ATM):c.8419-15A>T
NM_000051.4(ATM):c.8419-16T>C rs2137021914
NM_000051.4(ATM):c.8419-17A>G rs1057520452
NM_000051.4(ATM):c.8419-18T>C rs2088256725
NM_000051.4(ATM):c.8419-20T>C
NM_000051.4(ATM):c.8419-22TA[2] rs1257766623
NM_000051.4(ATM):c.8419-4A>G
NM_000051.4(ATM):c.8419-7T>C rs1591263768
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8424G>T (p.Val2808=) rs786203870
NM_000051.4(ATM):c.8433G>A (p.Lys2811=)
NM_000051.4(ATM):c.8445G>A (p.Glu2815=) rs2137026158
NM_000051.4(ATM):c.8448A>G (p.Lys2816=) rs1555138048
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
NM_000051.4(ATM):c.8454A>G (p.Glu2818=) rs2137026950
NM_000051.4(ATM):c.8457C>A (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8457C>G (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
NM_000051.4(ATM):c.8469T>C (p.Val2823=) rs1555138081
NM_000051.4(ATM):c.8472C>T (p.Cys2824=) rs1555138090
NM_000051.4(ATM):c.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8478T>C (p.Asn2826=) rs1315026465
NM_000051.4(ATM):c.8484A>G (p.Gln2828=)
NM_000051.4(ATM):c.8490T>C (p.Val2830=) rs773149592
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
NM_000051.4(ATM):c.8502C>T (p.Phe2834=) rs1555138167
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)
NM_000051.4(ATM):c.8514A>G (p.Lys2838=) rs1591264927
NM_000051.4(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.4(ATM):c.8526A>G (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8526A>T (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
NM_000051.4(ATM):c.8545C>A (p.Arg2849=) rs587778080
NM_000051.4(ATM):c.8548T>C (p.Leu2850=) rs1555138320
NM_000051.4(ATM):c.8550G>A (p.Leu2850=) rs1591265370
NM_000051.4(ATM):c.8553T>C (p.Ala2851=) rs2137035844
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8559G>C (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8565T>C (p.Ser2855=) rs780905851
NM_000051.4(ATM):c.8568A>G (p.Val2856=) rs2137037514
NM_000051.4(ATM):c.8568A>T (p.Val2856=)
NM_000051.4(ATM):c.8571T>C (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8571T>G (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8580T>C (p.Ser2860=) rs1591265841
NM_000051.4(ATM):c.8584+11dup
NM_000051.4(ATM):c.8584+12G>A
NM_000051.4(ATM):c.8584+12G>C rs2137039977
NM_000051.4(ATM):c.8584+12del rs2137040055
NM_000051.4(ATM):c.8584+13T>G
NM_000051.4(ATM):c.8584+14A>G
NM_000051.4(ATM):c.8584+15C>G
NM_000051.4(ATM):c.8584+15_8584+20del rs2137040215
NM_000051.4(ATM):c.8584+15dup rs2137040530
NM_000051.4(ATM):c.8584+16A>C rs1322889530
NM_000051.4(ATM):c.8584+17T>C
NM_000051.4(ATM):c.8584+18A>G rs2137040788
NM_000051.4(ATM):c.8584+19del rs2137040977
NM_000051.4(ATM):c.8584+20_8584+36del
NM_000051.4(ATM):c.8584+7T>C rs1374271708
NM_000051.4(ATM):c.8584+7T>G rs1374271708
NM_000051.4(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.4(ATM):c.8584+9del rs1565564405
NM_000051.4(ATM):c.8585-11T>C
NM_000051.4(ATM):c.8585-11T>G rs752428743
NM_000051.4(ATM):c.8585-12T>C
NM_000051.4(ATM):c.8585-13C>G
NM_000051.4(ATM):c.8585-14T>A
NM_000051.4(ATM):c.8585-14T>G
NM_000051.4(ATM):c.8585-16T>A rs2137076895
NM_000051.4(ATM):c.8585-17G>A
NM_000051.4(ATM):c.8585-17G>C
NM_000051.4(ATM):c.8585-17_8585-14del rs764013510
NM_000051.4(ATM):c.8585-18T>C
NM_000051.4(ATM):c.8585-19T>C rs2137076742
NM_000051.4(ATM):c.8585-4C>G rs1555139447
NM_000051.4(ATM):c.8585-4C>T rs1555139447
NM_000051.4(ATM):c.8585-5T>G
NM_000051.4(ATM):c.8585-6C>T rs2137077591
NM_000051.4(ATM):c.8585-7T>C
NM_000051.4(ATM):c.8585-8T>C rs2137077459
NM_000051.4(ATM):c.8585-9T>C rs2137077383
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
NM_000051.4(ATM):c.8589T>C (p.Gly2863=) rs1409265866
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)
NM_000051.4(ATM):c.8601A>G (p.Gly2867=) rs1565567027
NM_000051.4(ATM):c.8604T>G (p.Leu2868=) rs2088545756
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)
NM_000051.4(ATM):c.8610T>C (p.Asp2870=) rs1370524851
NM_000051.4(ATM):c.8616T>C (p.His2872=)
NM_000051.4(ATM):c.8628C>A (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8628C>T (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)
NM_000051.4(ATM):c.8655T>C (p.Leu2885=) rs1555139640
NM_000051.4(ATM):c.8658A>C (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8658A>T (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8661T>C (p.His2887=)
NM_000051.4(ATM):c.8668C>T (p.Leu2890=) rs587779874
NM_000051.4(ATM):c.8671+13A>G
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8671+19G>A
NM_000051.4(ATM):c.8671+19G>T rs1308810219
NM_000051.4(ATM):c.8671+20T>C rs1057521774
NM_000051.4(ATM):c.8671+9T>C rs200190537
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-20C>A
NM_000051.4(ATM):c.8672-5T>C rs1591306315
NM_000051.4(ATM):c.8672-6C>T
NM_000051.4(ATM):c.8672-7A>G rs2137284033
NM_000051.4(ATM):c.8672-7A>T
NM_000051.4(ATM):c.8672-8T>C
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.8691C>A (p.Gly2897=) rs1555142814
NM_000051.4(ATM):c.8700T>C (p.Leu2900=) rs2137288094
NM_000051.4(ATM):c.8706T>C (p.Thr2902=) rs1555142824
NM_000051.4(ATM):c.8712G>A (p.Glu2904=) rs1349488841
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8718T>A (p.Val2906=) rs1591306810
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
NM_000051.4(ATM):c.8730C>A (p.Leu2910=) rs551041839
NM_000051.4(ATM):c.8730C>T (p.Leu2910=)
NM_000051.4(ATM):c.8733C>A (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8733C>T (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8739T>C (p.Asp2913=) rs764778912
NM_000051.4(ATM):c.8748T>C (p.Asp2916=) rs2137293260
NM_000051.4(ATM):c.8751C>G (p.Gly2917=) rs779858366
NM_000051.4(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8763G>T (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8766T>C (p.Gly2922=) rs1166849874
NM_000051.4(ATM):c.8769T>C (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8769T>G (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8781C>T (p.Phe2927=) rs2137297059
NM_000051.4(ATM):c.8784A>G (p.Arg2928=) rs1565579622
NM_000051.4(ATM):c.8786+10A>G rs1591307673
NM_000051.4(ATM):c.8786+11T>A
NM_000051.4(ATM):c.8786+11T>G rs368627124
NM_000051.4(ATM):c.8786+14A>C rs2137299188
NM_000051.4(ATM):c.8786+14A>G rs2137299188
NM_000051.4(ATM):c.8786+16T>A
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8786+16T>G rs1057521277
NM_000051.4(ATM):c.8786+17A>G
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+20G>A rs56283878
NM_000051.4(ATM):c.8786+5_8786+9dup rs2137298148
NM_000051.4(ATM):c.8786+6_8786+9dup rs1312735736
NM_000051.4(ATM):c.8786+7G>A rs1555142923
NM_000051.4(ATM):c.8786+8A>G rs4986839
NM_000051.4(ATM):c.8786+9T>C rs1060504271
NM_000051.4(ATM):c.8787-11_8787-8dup
NM_000051.4(ATM):c.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-14G>T
NM_000051.4(ATM):c.8787-17_8787-15del rs1349996464
NM_000051.4(ATM):c.8787-19A>G rs1555143457
NM_000051.4(ATM):c.8787-20T>A rs1352666899
NM_000051.4(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8787-7A>G rs1591313741
NM_000051.4(ATM):c.8787-9dup
NM_000051.4(ATM):c.8790C>T (p.Cys2930=) rs1565582275
NM_000051.4(ATM):c.8802C>G (p.Thr2934=) rs1565582354
NM_000051.4(ATM):c.8811G>A (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8811G>T (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8823T>C (p.Ser2941=) rs1060504288
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
NM_000051.4(ATM):c.8833C>T (p.Leu2945=) rs786203505
NM_000051.4(ATM):c.8841C>G (p.Thr2947=) rs2137353155
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
NM_000051.4(ATM):c.8850+13A>G rs2089708352
NM_000051.4(ATM):c.8850+13dup
NM_000051.4(ATM):c.8850+14T>C rs1294857465
NM_000051.4(ATM):c.8850+18G>A rs969877924
NM_000051.4(ATM):c.8850+20A>C rs2137357318
NM_000051.4(ATM):c.8850+6G>A rs2089704921
NM_000051.4(ATM):c.8850+7T>C rs2137355586
NM_000051.4(ATM):c.8850+9T>G rs571828498
NM_000051.4(ATM):c.8851-10C>G rs1057521676
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.8851-10_8851-7del rs1591384042
NM_000051.4(ATM):c.8851-12C>G
NM_000051.4(ATM):c.8851-15G>A rs1222455348
NM_000051.4(ATM):c.8851-15dup rs1565607238
NM_000051.4(ATM):c.8851-16T>C rs1565607217
NM_000051.4(ATM):c.8851-17A>G rs2091194046
NM_000051.4(ATM):c.8851-18T>C
NM_000051.4(ATM):c.8851-20C>T
NM_000051.4(ATM):c.8851-6G>C rs777096209
NM_000051.4(ATM):c.8851-6_8851-3dup
NM_000051.4(ATM):c.8853C>G (p.Val2951=) rs878853552
NM_000051.4(ATM):c.8853C>T (p.Val2951=)
NM_000051.4(ATM):c.8856T>C (p.Leu2952=)
NM_000051.4(ATM):c.8868A>C (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8868A>T (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
NM_000051.4(ATM):c.8889T>C (p.Asn2963=) rs1476881353
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8901T>A (p.Ala2967=)
NM_000051.4(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.4(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.4(ATM):c.8934T>C (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8934T>G (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8946T>C (p.Pro2982=) rs780572651
NM_000051.4(ATM):c.8950C>T (p.Leu2984=) rs747445236
NM_000051.4(ATM):c.8952G>A (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>C (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>T (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8958A>C (p.Ala2986=) rs863224567
NM_000051.4(ATM):c.8958A>T (p.Ala2986=)
NM_000051.4(ATM):c.8967A>G (p.Gln2989=) rs876659033
NM_000051.4(ATM):c.8979A>C (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8979A>G (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8982T>C (p.Asn2994=) rs2137888159
NM_000051.4(ATM):c.8985C>T (p.Leu2995=) rs771675608
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8987+11T>G rs1555151554
NM_000051.4(ATM):c.8987+12T>C
NM_000051.4(ATM):c.8987+13T>C
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987+6_8987+17dup
NM_000051.4(ATM):c.8987+7A>G
NM_000051.4(ATM):c.8987+8G>C rs2137889967
NM_000051.4(ATM):c.8987+9T>C
NM_000051.4(ATM):c.8988-10T>C rs2137901897
NM_000051.4(ATM):c.8988-12T>A rs1370262422
NM_000051.4(ATM):c.8988-13T>A
NM_000051.4(ATM):c.8988-13T>C rs756571175
NM_000051.4(ATM):c.8988-13T>G rs756571175
NM_000051.4(ATM):c.8988-14G>A
NM_000051.4(ATM):c.8988-16G>A
NM_000051.4(ATM):c.8988-17dup rs2137900748
NM_000051.4(ATM):c.8988-18T>G
NM_000051.4(ATM):c.8988-18_8988-17del
NM_000051.4(ATM):c.8988-19T>C rs2137900568
NM_000051.4(ATM):c.8988-5C>T rs1591386387
NM_000051.4(ATM):c.8988-6C>T
NM_000051.4(ATM):c.8988-7T>A rs1487809821
NM_000051.4(ATM):c.8988-8G>A rs1555151666
NM_000051.4(ATM):c.8988-9T>C rs2137902045
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
NM_000051.4(ATM):c.9012A>G (p.Lys3004=) rs2137907131
NM_000051.4(ATM):c.9018T>C (p.Ala3006=) rs2091236849
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
NM_000051.4(ATM):c.9024T>C (p.Arg3008=) rs876658179
NM_000051.4(ATM):c.9027C>G (p.Val3009=) rs1200351979
NM_000051.4(ATM):c.9028T>C (p.Leu3010=)
NM_000051.4(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.4(ATM):c.9042A>G (p.Gln3014=) rs1060504291
NM_000051.4(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.4(ATM):c.9051G>A (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9051G>C (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9060G>A (p.Val3020=) rs864622625
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9078C>G (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9078C>T (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9081T>C (p.Ser3027=) rs2091248229
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9096G>A (p.Val3032=) rs1565609478
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
NM_000051.4(ATM):c.9100T>C (p.Leu3034=) rs2091251592
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9117C>T (p.Ala3039=) rs1289926943
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9144T>A (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9144T>C (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9150A>G (p.Pro3050=) rs2137928625
NM_000051.4(ATM):c.9153A>C (p.Gly3051=) rs1555152080
NM_000051.4(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522
NM_000051.4(ATM):c.9170G>A (p.Ter3057=)

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