ClinVar Miner

List of variants reported as uncertain significance for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6565
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.*236C>T rs3092834 0.00640
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.*3136A>G rs3092845 0.00242
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.*2866T>C rs191399133 0.00142
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.*3198T>G rs764033869 0.00089
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.*521del rs886047615 0.00062
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.*2607T>C rs879796523 0.00055
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.*540A>C rs868594741 0.00042
NM_000051.4(ATM):c.*1641G>A rs978143944 0.00041
NM_000051.4(ATM):c.*2362T>C rs185852664 0.00040
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.*1520C>T rs112426029 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.*3022C>G rs145076930 0.00022
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000051.4(ATM):c.*1571C>T rs886047621 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.*2479G>A rs778439888 0.00020
NM_000051.4(ATM):c.*223G>A rs536067082 0.00019
NM_000051.4(ATM):c.*2957G>C rs770767475 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly) rs200441272 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.*2756T>C rs754992709 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000051.4(ATM):c.*3204G>A rs181377742 0.00016
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
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.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg) rs587782442 0.00014
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.*509G>A rs1329700897 0.00013
NM_000051.4(ATM):c.*703G>A rs118179262 0.00013
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
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.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.*1670G>A rs886047623 0.00009
NM_000051.4(ATM):c.*2153G>A rs1021493177 0.00009
NM_000051.4(ATM):c.*712A>G rs966180034 0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.572T>A (p.Ile191Asn) rs767132334 0.00009
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000051.4(ATM):c.*1768C>T rs551571814 0.00008
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
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.*1272C>G rs376572054 0.00007
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.3(ATM):c.-186G>A rs879725890 0.00006
NM_000051.3(ATM):c.-218T>A rs886047609 0.00006
NM_000051.4(ATM):c.*3091G>A rs886047629 0.00006
NM_000051.4(ATM):c.-94G>A rs766115348 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.1899-123A>G rs55744559 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2527A>G (p.Asn843Asp) rs1162447958 0.00006
NM_000051.4(ATM):c.2679A>T (p.Gln893His) rs139316519 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val) rs746709782 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.*222C>T rs760852487 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser) rs587779853 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000051.3(ATM):c.-274G>A rs886047606 0.00004
NM_000051.3(ATM):c.-398G>A rs996438197 0.00004
NM_000051.4(ATM):c.*3579T>G rs912006598 0.00004
NM_000051.4(ATM):c.*690T>C rs751932227 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser) rs368209025 0.00004
NM_000051.4(ATM):c.1837G>T (p.Val613Leu) rs200124136 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 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.*534A>C rs957324830 0.00003
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 0.00003
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn) rs876659240 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1556T>C (p.Val519Ala) rs574458765 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg) rs587782141 0.00003
NM_000051.4(ATM):c.2057T>A (p.Leu686His) rs1239416977 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2180G>T (p.Gly727Val) rs1446080226 0.00003
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala) rs926246315 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala) rs552010421 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly) rs761251711 0.00003
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly) rs750322758 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3514G>C (p.Ala1172Pro) rs779946941 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.379A>T (p.Thr127Ser) rs587781741 0.00003
NM_000051.4(ATM):c.389A>G (p.Asp130Gly) rs766034066 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.4687G>A (p.Asp1563Asn) rs1464587365 0.00003
NM_000051.4(ATM):c.469T>G (p.Cys157Gly) rs1248850168 0.00003
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr) rs753269143 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5069A>G (p.His1690Arg) rs863224574 0.00003
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr) rs1060501613 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5566G>A (p.Glu1856Lys) rs1465041573 0.00003
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser) rs587779850 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.5725A>G (p.Met1909Val) rs750561317 0.00003
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666 0.00003
NM_000051.4(ATM):c.6199-3T>C rs1318760213 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6347+6A>C rs750501197 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 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.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000051.4(ATM):c.6703A>G (p.Met2235Val) rs768791795 0.00003
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7213A>G (p.Met2405Val) rs587781323 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7658C>A (p.Pro2553His) rs864622368 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val) rs368666328 0.00003
NM_000051.4(ATM):c.8785A>C (p.Arg2929=) rs1013290424 0.00003
NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro) rs786204218 0.00003
NM_000051.4(ATM):c.*2780C>T rs1246719124 0.00002
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly) rs775767808 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly) rs876659425 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1792A>G (p.Ile598Val) rs730881343 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu) rs779004090 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2258T>C (p.Met753Thr) rs587781607 0.00002
NM_000051.4(ATM):c.2338A>T (p.Met780Leu) rs587781446 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser) rs141947469 0.00002
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys) rs587780619 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val) rs746133264 0.00002
NM_000051.4(ATM):c.308A>G (p.Tyr103Cys) rs1249361503 0.00002
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser) rs755237639 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3446A>G (p.Asn1149Ser) rs1414846775 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 0.00002
NM_000051.4(ATM):c.3841A>T (p.Ser1281Cys) rs370785959 0.00002
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr) rs1309605588 0.00002
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn) rs764564211 0.00002
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu) rs750771205 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg) rs758180727 0.00002
NM_000051.4(ATM):c.425G>A (p.Ser142Asn) rs755618506 0.00002
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr) rs544891616 0.00002
NM_000051.4(ATM):c.4307A>G (p.His1436Arg) rs940104361 0.00002
NM_000051.4(ATM):c.4662C>A (p.Asn1554Lys) rs776761757 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.49C>A (p.His17Asn) rs876658161 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.504C>G (p.Phe168Leu) rs1060504312 0.00002
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln) rs755397489 0.00002
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly) rs746945284 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val) rs758038580 0.00002
NM_000051.4(ATM):c.6198+5A>G rs771047560 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile) rs786203764 0.00002
NM_000051.4(ATM):c.7630-3C>T rs587782448 0.00002
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys) rs761790685 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.7929A>T (p.Lys2643Asn) rs780247224 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 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.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.3(ATM):c.-174A>C rs928618464 0.00001
NM_000051.3(ATM):c.-229C>G rs886047608 0.00001
NM_000051.4(ATM):c.*1640C>T rs886047622 0.00001
NM_000051.4(ATM):c.*244G>A rs1280155397 0.00001
NM_000051.4(ATM):c.*3325A>G rs886047630 0.00001
NM_000051.4(ATM):c.*605G>A rs2091314734 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr) rs1064794119 0.00001
NM_000051.4(ATM):c.1047G>A (p.Met349Ile) rs768480943 0.00001
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn) rs876659092 0.00001
NM_000051.4(ATM):c.1054A>G (p.Ile352Val) rs748380019 0.00001
NM_000051.4(ATM):c.1055T>C (p.Ile352Thr) rs369203092 0.00001
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu) rs199869975 0.00001
NM_000051.4(ATM):c.1097_1101del (p.Ile366fs) rs2079990512 0.00001
NM_000051.4(ATM):c.10G>A (p.Val4Ile) rs1438588853 0.00001
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1114A>G (p.Thr372Ala) rs1591517491 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1135G>A (p.Asp379Asn) rs1591517693 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1143T>A (p.Ser381Arg) rs755991658 0.00001
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp) rs777755997 0.00001
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg) rs757486696 0.00001
NM_000051.4(ATM):c.1178G>T (p.Trp393Leu) rs1025339570 0.00001
NM_000051.4(ATM):c.121A>G (p.Lys41Glu) rs1060501672 0.00001
NM_000051.4(ATM):c.1222G>A (p.Asp408Asn) rs864622548 0.00001
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe) rs786203815 0.00001
NM_000051.4(ATM):c.1235+6G>A rs2080003881 0.00001
NM_000051.4(ATM):c.1236-2dup rs1555070601 0.00001
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.1292A>C (p.Glu431Ala) rs1320262218 0.00001
NM_000051.4(ATM):c.1314A>G (p.Ile438Met) rs770573462 0.00001
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe) rs773895161 0.00001
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg) rs1591523341 0.00001
NM_000051.4(ATM):c.1343A>G (p.His448Arg) rs1555070781 0.00001
NM_000051.4(ATM):c.134G>A (p.Arg45Gln) rs762382111 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly) rs1555070958 0.00001
NM_000051.4(ATM):c.1441T>G (p.Leu481Val) rs775080283 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe) rs776412334 0.00001
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys) rs750280306 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn) rs778890679 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly) rs766595156 0.00001
NM_000051.4(ATM):c.1550T>G (p.Val517Gly) rs777986229 0.00001
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu) rs864622262 0.00001
NM_000051.4(ATM):c.1585G>C (p.Gly529Arg) rs1325651820 0.00001
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu) rs587782212 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1671G>A (p.Met557Ile) rs730881341 0.00001
NM_000051.4(ATM):c.1675A>G (p.Ile559Val) rs1060501545 0.00001
NM_000051.4(ATM):c.167A>C (p.Asn56Thr) rs1040197895 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln) rs876659283 0.00001
NM_000051.4(ATM):c.1782A>T (p.Glu594Asp) rs876660494 0.00001
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu) rs765847854 0.00001
NM_000051.4(ATM):c.179T>C (p.Val60Ala) rs988441570 0.00001
NM_000051.4(ATM):c.1805A>G (p.Asn602Ser) rs1173305253 0.00001
NM_000051.4(ATM):c.1814A>G (p.His605Arg) rs771877351 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr) rs770377706 0.00001
NM_000051.4(ATM):c.185+4T>A rs1060501685 0.00001
NM_000051.4(ATM):c.1870A>G (p.Met624Val) rs863224557 0.00001
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile) rs766757573 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1903C>T (p.His635Tyr) rs761491947 0.00001
NM_000051.4(ATM):c.1907A>G (p.His636Arg) rs1333990758 0.00001
NM_000051.4(ATM):c.193C>G (p.Gln65Glu) rs775248597 0.00001
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser) rs766259936 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro) rs876659966 0.00001
NM_000051.4(ATM):c.1966A>G (p.Thr656Ala) rs1064793032 0.00001
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn) rs1060501565 0.00001
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys) rs750897021 0.00001
NM_000051.4(ATM):c.2013A>G (p.Ile671Met) rs1371341017 0.00001
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr) rs1219097850 0.00001
NM_000051.4(ATM):c.2048A>G (p.His683Arg) rs1421091487 0.00001
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu) rs1060501691 0.00001
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2080C>T (p.Leu694Phe) rs759617968 0.00001
NM_000051.4(ATM):c.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr) rs753903558 0.00001
NM_000051.4(ATM):c.2116T>C (p.Ser706Pro) rs536609092 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp) rs1468938522 0.00001
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala) rs750506930 0.00001
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp) rs587781654 0.00001
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile) rs1555074846 0.00001
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2176C>A (p.Leu726Ile) rs775266056 0.00001
NM_000051.4(ATM):c.2207C>T (p.Ala736Val) rs587780617 0.00001
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu) rs1017383703 0.00001
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr) rs1060501540 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2284C>G (p.Leu762Val) rs876659401 0.00001
NM_000051.4(ATM):c.229A>G (p.Ile77Val) rs1064796032 0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser) rs587779820 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser) rs764538548 0.00001
NM_000051.4(ATM):c.2374A>G (p.Lys792Glu) rs1423446897 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2376+6A>C rs1409294054 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.238C>T (p.Pro80Ser) rs750597831 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu) rs201909756 0.00001
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg) rs952566855 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg) rs372230498 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys) rs141054982 0.00001
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2564T>C (p.Met855Thr) rs587779824 0.00001
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn) rs587779825 0.00001
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly) rs764842086 0.00001
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu) rs786202977 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2637A>G (p.Ile879Met) rs1449494151 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2647A>G (p.Asn883Asp) rs587782382 0.00001
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe) rs730881351 0.00001
NM_000051.4(ATM):c.2694A>C (p.Leu898Phe) rs774395596 0.00001
NM_000051.4(ATM):c.2698A>G (p.Met900Val) rs138468963 0.00001
NM_000051.4(ATM):c.270G>T (p.Arg90Ser) rs1313014736 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala) rs1265391373 0.00001
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe) rs770565353 0.00001
NM_000051.4(ATM):c.2786T>C (p.Met929Thr) rs745737218 0.00001
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys) rs56087610 0.00001
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly) rs772054979 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala) rs864622606 0.00001
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu) rs1064795896 0.00001
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe) rs1188614092 0.00001
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe) rs3218688 0.00001
NM_000051.4(ATM):c.2829C>A (p.His943Gln) rs1485943190 0.00001
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg) rs565886680 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu) rs752099312 0.00001
NM_000051.4(ATM):c.2878C>A (p.Pro960Thr) rs876659412 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.2889G>A (p.Met963Ile) rs35098825 0.00001
NM_000051.4(ATM):c.2894A>T (p.Asp965Val) rs876658628 0.00001
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu) rs750093937 0.00001
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe) rs538105098 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.292A>C (p.Ser98Arg) rs768318076 0.00001
NM_000051.4(ATM):c.2968A>G (p.Ile990Val) rs899241025 0.00001
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe) rs587779831 0.00001
NM_000051.4(ATM):c.2992G>A (p.Val998Met) rs199635238 0.00001
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val) rs377244521 0.00001
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr) rs1421074475 0.00001
NM_000051.4(ATM):c.301G>A (p.Val101Ile) rs758483894 0.00001
NM_000051.4(ATM):c.3077+5G>A rs777003996 0.00001
NM_000051.4(ATM):c.3077+9del rs2081578007 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 0.00001
NM_000051.4(ATM):c.3147G>T (p.Leu1049Phe) rs1060501686 0.00001
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln) rs774935453 0.00001
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val) rs761590782 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr) rs1160497775 0.00001
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu) rs762810180 0.00001
NM_000051.4(ATM):c.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr) rs1302626569 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu) rs876658491 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3311C>A (p.Ser1104Tyr) rs1555090126 0.00001
NM_000051.4(ATM):c.3314C>T (p.Ser1105Phe) rs141999815 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val) rs587779832 0.00001
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro) rs876658363 0.00001
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met) rs777705500 0.00001
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser) rs745863765 0.00001
NM_000051.4(ATM):c.337C>T (p.Pro113Ser) rs1060501678 0.00001
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg) rs587781911 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln) rs786203048 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys) rs773169285 0.00001
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588 0.00001
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00001
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr) rs372766122 0.00001
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg) rs749933079 0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys) rs200765255 0.00001
NM_000051.4(ATM):c.3520T>G (p.Phe1174Val) rs547400704 0.00001
NM_000051.4(ATM):c.3521T>C (p.Phe1174Ser) rs1416574870 0.00001
NM_000051.4(ATM):c.3526C>G (p.Leu1176Val) rs1462728109 0.00001
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu) rs879254024 0.00001
NM_000051.4(ATM):c.3606A>G (p.Gly1202=) rs1189826741 0.00001
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys) rs1453849799 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.361T>A (p.Leu121Ile) rs587782178 0.00001
NM_000051.4(ATM):c.3622_3624del (p.Asp1208del) rs2082297886 0.00001
NM_000051.4(ATM):c.363A>C (p.Leu121Phe) rs774555120 0.00001
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu) rs1364817146 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.3679A>G (p.Thr1227Ala) rs1047871047 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.3703C>T (p.Pro1235Ser) rs779095853 0.00001
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser) rs730881363 0.00001
NM_000051.4(ATM):c.373A>G (p.Met125Val) rs761137313 0.00001
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp) rs1180341161 0.00001
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met) rs765538231 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met) rs863224564 0.00001
NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp) rs876660767 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe) rs2082378278 0.00001
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp) rs587781787 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe) rs876660770 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg) rs876658669 0.00001
NM_000051.4(ATM):c.3993+3A>G rs771789242 0.00001
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805 0.00001
NM_000051.4(ATM):c.4001A>G (p.His1334Arg) rs780865776 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn) rs1060501660 0.00001
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512 0.00001
NM_000051.4(ATM):c.401G>A (p.Gly134Asp) rs771166271 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4055A>G (p.His1352Arg) rs925124248 0.00001
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly) rs1176020475 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser) rs749215545 0.00001
NM_000051.4(ATM):c.412G>A (p.Gly138Arg) rs150661813 0.00001
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser) rs1555096828 0.00001
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser) rs55859590 0.00001
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4179C>G (p.Ile1393Met) rs775688446 0.00001
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn) rs786203761 0.00001
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val) rs786201832 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu) rs774886013 0.00001
NM_000051.4(ATM):c.432A>G (p.Ile144Met) rs772173522 0.00001
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg) rs587782126 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe) rs765713557 0.00001
NM_000051.4(ATM):c.439A>G (p.Lys147Glu) rs587782509 0.00001
NM_000051.4(ATM):c.4417A>G (p.Ile1473Val) rs1565456980 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys) rs571989748 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4439C>T (p.Pro1480Leu) rs200456625 0.00001
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe) rs863224572 0.00001
NM_000051.4(ATM):c.4447A>G (p.Ile1483Val) rs1281685502 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile) rs370574283 0.00001
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala) rs767466937 0.00001
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile) rs1064793811 0.00001
NM_000051.4(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683 0.00001
NM_000051.4(ATM):c.4546C>T (p.His1516Tyr) rs1389372050 0.00001
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe) rs754058482 0.00001
NM_000051.4(ATM):c.4553A>C (p.His1518Pro) rs762132832 0.00001
NM_000051.4(ATM):c.4559T>C (p.Ile1520Thr) rs375654664 0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu) rs141329176 0.00001
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr) rs755274980 0.00001
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr) rs748898098 0.00001
NM_000051.4(ATM):c.4577C>A (p.Pro1526His) rs770590652 0.00001
NM_000051.4(ATM):c.4618G>T (p.Asp1540Tyr) rs778622948 0.00001
NM_000051.4(ATM):c.4630T>C (p.Tyr1544His) rs771554153 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu) rs537377433 0.00001
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu) rs767981230 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn) rs786203953 0.00001
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala) rs786202473 0.00001
NM_000051.4(ATM):c.475A>G (p.Ile159Val) rs1565357315 0.00001
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe) rs1345760669 0.00001
NM_000051.4(ATM):c.4777-3T>C rs1468242174 0.00001
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr) rs777812804 0.00001
NM_000051.4(ATM):c.478T>C (p.Ser160Pro) rs761170769 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val) rs746103632 0.00001
NM_000051.4(ATM):c.4826C>G (p.Thr1609Arg) rs1316363133 0.00001
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr) rs2083038225 0.00001
NM_000051.4(ATM):c.4849C>G (p.Leu1617Val) rs1006483748 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.4881G>T (p.Gln1627His) rs1374689246 0.00001
NM_000051.4(ATM):c.488A>G (p.Gln163Arg) rs876660598 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu) rs752459491 0.00001
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581 0.00001
NM_000051.4(ATM):c.4972G>A (p.Ala1658Thr) rs372679141 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434 0.00001
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala) rs1457261046 0.00001
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg) rs1330898827 0.00001
NM_000051.4(ATM):c.5032G>A (p.Val1678Met) rs1299754311 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu) rs1183084231 0.00001
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile) rs879254191 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5057T>C (p.Ile1686Thr) rs878853517 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.506C>G (p.Ser169Cys) rs587779843 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser) rs1291016764 0.00001
NM_000051.4(ATM):c.5138T>C (p.Ile1713Thr) rs1199544303 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly) rs770882126 0.00001
NM_000051.4(ATM):c.5178-10T>A rs1565476613 0.00001
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp) rs1446243372 0.00001
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg) rs1060501613 0.00001
NM_000051.4(ATM):c.5195C>G (p.Ala1732Gly) rs1565476801 0.00001
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val) rs1358200819 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5233A>C (p.Thr1745Pro) rs587782532 0.00001
NM_000051.4(ATM):c.5250G>T (p.Trp1750Cys) rs587779845 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.526C>G (p.Leu176Val) rs375798802 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val) rs768820804 0.00001
NM_000051.4(ATM):c.5324T>C (p.Leu1775Ser) rs1256064321 0.00001
NM_000051.4(ATM):c.5335A>G (p.Arg1779Gly) rs1176642734 0.00001
NM_000051.4(ATM):c.5345A>G (p.Lys1782Arg) rs878853520 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn) rs933604666 0.00001
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg) rs562930561 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg) rs1565479465 0.00001
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala) rs1034908940 0.00001
NM_000051.4(ATM):c.5524C>A (p.Leu1842Ile) rs956546711 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val) rs587779849 0.00001
NM_000051.4(ATM):c.554T>C (p.Val185Ala) rs730881335 0.00001
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg) rs138710254 0.00001
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu) rs751327903 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5635C>A (p.Gln1879Lys) rs756109905 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.566G>C (p.Arg189Thr) rs79075295 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5675-10T>G rs377599533 0.00001
NM_000051.4(ATM):c.5685C>A (p.His1895Gln) rs889445709 0.00001
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 0.00001
NM_000051.4(ATM):c.5746A>G (p.Met1916Val) rs910274159 0.00001
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr) rs1060501557 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala) rs781448339 0.00001
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser) rs1286443989 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu) rs779692309 0.00001
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg) rs746676271 0.00001
NM_000051.4(ATM):c.5852A>C (p.His1951Pro) rs1164569755 0.00001
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn) rs587782503 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser) rs780867575 0.00001
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp) rs945198632 0.00001
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg) rs786203765 0.00001
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg) rs543980602 0.00001
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys) rs770722380 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val) rs1188125296 0.00001
NM_000051.4(ATM):c.5994A>T (p.Gly1998=) rs56046250 0.00001
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn) rs775921052 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala) rs762001297 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062 0.00001
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser) rs35991214 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile) rs369349023 0.00001
NM_000051.4(ATM):c.6095+5A>G rs757328753 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala) rs876659555 0.00001
NM_000051.4(ATM):c.6121A>G (p.Met2041Val) rs759753186 0.00001
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr) rs1000032847 0.00001
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser) rs767939328 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala) rs1183544857 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu) rs1239942908 0.00001
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586 0.00001
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu) rs376898203 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6296A>G (p.His2099Arg) rs587782802 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala) rs1555114835 0.00001
NM_000051.4(ATM):c.6348-3C>T rs946541820 0.00001
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser) rs1555116369 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr) rs1201879809 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 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.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6466G>A (p.Glu2156Lys) rs1328099740 0.00001
NM_000051.4(ATM):c.6482G>A (p.Arg2161His) rs756626462 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val) rs1064794157 0.00001
NM_000051.4(ATM):c.6517C>T (p.Leu2173Phe) rs1565511354 0.00001
NM_000051.4(ATM):c.6522C>T (p.Ser2174=) rs772850740 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.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro) rs1252127806 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 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.672G>T (p.Lys224Asn) rs769731317 0.00001
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val) rs1365474284 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.6831A>C (p.Gln2277His) rs1339794219 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys) rs1479339581 0.00001
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile) rs1204077610 0.00001
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg) rs1297586575 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val) rs776429506 0.00001
NM_000051.4(ATM):c.6942A>C (p.Gln2314His) rs764859160 0.00001
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr) rs1555120006 0.00001
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr) rs750285816 0.00001
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu) rs1449259481 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6975+5del rs1442949382 0.00001
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile) rs761587154 0.00001
NM_000051.4(ATM):c.6982C>T (p.Pro2328Ser) rs769606850 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr) rs1223489931 0.00001
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met) rs757293178 0.00001
NM_000051.4(ATM):c.709A>G (p.Thr237Ala) rs376529329 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 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.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 0.00001
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr) rs745440761 0.00001
NM_000051.4(ATM):c.722A>G (p.Lys241Arg) rs1021907990 0.00001
NM_000051.4(ATM):c.7262A>T (p.Lys2421Ile) rs1360453074 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.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu) rs864622563 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn) rs751537332 0.00001
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala) rs765548443 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys) rs730881318 0.00001
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val) rs587779863 0.00001
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys) rs755418571 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.738C>G (p.Asn246Lys) rs1335108218 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile) rs769722643 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe) rs759728261 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119 0.00001
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala) rs754245181 0.00001
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly) rs1224705805 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531 0.00001
NM_000051.4(ATM):c.7512G>A (p.Met2504Ile) rs1350657331 0.00001
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000051.4(ATM):c.7525A>G (p.Met2509Val) rs979101125 0.00001
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe) rs146069748 0.00001
NM_000051.4(ATM):c.7535C>T (p.Pro2512Leu) rs1237858258 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys) rs774312539 0.00001
NM_000051.4(ATM):c.754T>A (p.Cys252Ser) rs863224580 0.00001
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu) rs879254136 0.00001
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp) rs747145967 0.00001
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu) rs864622688 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-18A>G rs1236081666 0.00001
NM_000051.4(ATM):c.7648A>G (p.Met2550Val) rs878853545 0.00001
NM_000051.4(ATM):c.7656C>A (p.His2552Gln) rs1555124473 0.00001
NM_000051.4(ATM):c.7664A>G (p.His2555Arg) rs876658925 0.00001
NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp) rs2086293039 0.00001
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val) rs1208002418 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln) rs1357229307 0.00001
NM_000051.4(ATM):c.7727A>G (p.Glu2576Gly) rs1202657573 0.00001
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly) rs750224234 0.00001
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln) rs140263969 0.00001
NM_000051.4(ATM):c.7843C>G (p.Gln2615Glu) rs773159296 0.00001
NM_000051.4(ATM):c.7847T>C (p.Met2616Thr) rs762765902 0.00001
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly) rs766351395 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe) rs876659531 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7897T>G (p.Leu2633Val) rs587779868 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 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.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7927+4T>C rs1335862267 0.00001
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val) rs876660877 0.00001
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val) rs747448699 0.00001
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe) rs747448699 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr) rs1060501566 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys) rs786202859 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val) rs587781344 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu) rs758588019 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8108A>G (p.Asp2703Gly) rs1565541059 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8175T>A (p.Asp2725Glu) rs1431188311 0.00001
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu) rs1183442138 0.00001
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg) rs779145081 0.00001
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val) rs1215163673 0.00001
NM_000051.4(ATM):c.8258G>A (p.Cys2753Tyr) rs1284049490 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 0.00001
NM_000051.4(ATM):c.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val) rs758609900 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala) rs2087819658 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val) rs730881323 0.00001
NM_000051.4(ATM):c.839T>C (p.Ile280Thr) rs587782080 0.00001
NM_000051.4(ATM):c.8400G>C (p.Gln2800His) rs879253901 0.00001
NM_000051.4(ATM):c.8437T>C (p.Phe2813Leu) rs1280239284 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8461A>G (p.Met2821Val) rs876660081 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu) rs1060501605 0.00001
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile) rs777648248 0.00001
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala) rs749193688 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val) rs1555138472 0.00001
NM_000051.4(ATM):c.8584+6C>G rs863224300 0.00001
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val) rs786202223 0.00001
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile) rs730881327 0.00001
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr) rs587782451 0.00001
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile) rs1064795066 0.00001
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly) rs876658236 0.00001
NM_000051.4(ATM):c.8672-3T>C rs1060501550 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.86A>C (p.Lys29Thr) rs147009251 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala) rs730881328 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met) rs587782264 0.00001
NM_000051.4(ATM):c.8744T>C (p.Val2915Ala) rs2089511171 0.00001
NM_000051.4(ATM):c.8751C>T (p.Gly2917=) rs779858366 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.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.8850+3A>G rs769427492 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047 0.00001
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr) rs1400589510 0.00001
NM_000051.4(ATM):c.887A>C (p.Lys296Thr) rs1064795297 0.00001
NM_000051.4(ATM):c.8889T>A (p.Asn2963Lys) rs1476881353 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile) rs786203721 0.00001
NM_000051.4(ATM):c.8948C>A (p.Thr2983Asn) rs1472935232 0.00001
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met) rs747445236 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln) rs587778081 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val) rs1319582645 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9043G>C (p.Glu3015Gln) rs1591387120 0.00001
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu) rs1386313592 0.00001
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile) rs786203183 0.00001
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg) rs879254215 0.00001
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu) rs587779877 0.00001
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.931A>G (p.Ile311Val) rs876658322 0.00001
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys) rs1340280916 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.958G>A (p.Val320Met) rs1060501655 0.00001
NM_000051.4(ATM):c.976A>T (p.Ile326Leu) rs1555068422 0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr) rs768720856 0.00001
NM_000051.4(ATM):c.989G>C (p.Gly330Ala) rs762179829 0.00001
NC_000011.10:g.(?_108121587)_(108365528_?)dup
NC_000011.10:g.(?_108227615)_(108259085_?)dup
NC_000011.10:g.(?_108244778)_(108365518_?)dup
NC_000011.10:g.(?_108256205)_(108365508_?)dup
NC_000011.10:g.(?_108257471)_(108259085_?)del
NC_000011.10:g.(?_108258976)_(108335971_?)dup
NC_000011.10:g.(?_108267161)_(108268619_?)del
NC_000011.10:g.(?_108272522)_(108282889_?)dup
NC_000011.10:g.(?_108297277)_(108297392_?)dup
NC_000011.10:g.(?_108331434)_(108335971_?)dup
NC_000011.10:g.(?_108332752)_(108354884_?)dup
NC_000011.10:g.(?_108335835)_(108365508_?)dup
NC_000011.10:g.(?_108335835)_(108365518_?)dup
NC_000011.10:g.(?_108343212)_(108354884_?)dup
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_108098342)_(108117864_?)dup
NC_000011.9:g.(?_108098342)_(108158452_?)dup
NC_000011.9:g.(?_108098342)_(108236245_?)dup
NC_000011.9:g.(?_108098346)_(108151901_?)dup
NC_000011.9:g.(?_108098346)_(108236241_?)dup
NC_000011.9:g.(?_108098352)_(108098625_?)dup
NC_000011.9:g.(?_108098352)_(108106571_?)dup
NC_000011.9:g.(?_108098352)_(108117864_?)dup
NC_000011.9:g.(?_108098352)_(108216655_?)dup
NC_000011.9:g.(?_108098352)_(108236235_?)dup
NC_000011.9:g.(?_108099895)_(108119839_?)dup
NC_000011.9:g.(?_108106377)_(108236235_?)dup
NC_000011.9:g.(?_108106387)_(108236235_?)dup
NC_000011.9:g.(?_108114670)_(108236235_?)dup
NC_000011.9:g.(?_108115509)_(108236241_?)dup
NC_000011.9:g.(?_108126932)_(108129812_?)del
NC_000011.9:g.(?_108126936)_(108129808_?)dup
NC_000011.9:g.(?_108126936)_(108236241_?)dup
NC_000011.9:g.(?_108137888)_(108236245_?)dup
NC_000011.9:g.(?_108143253)_(108153612_?)dup
NC_000011.9:g.(?_108159694)_(108160538_?)del
NC_000011.9:g.(?_108170929)_(108196046_?)del
NC_000011.9:g.(?_108172365)_(108236235_?)dup
NC_000011.9:g.(?_108172365)_(108236245_?)dup
NC_000011.9:g.(?_108190671)_(108190795_?)dup
NC_000011.9:g.(?_108205686)_(108236245_?)dup
NC_000011.9:g.(?_108205690)_(108236241_?)dup
NC_000011.9:g.(?_108206566)_(108236241_?)dup
NC_000011.9:g.(?_108213939)_(108236235_?)dup
NC_000011.9:g.(?_108215207)_(108216339_?)del
NC_000011.9:g.(?_108235789)_(108236235_?)dup
NM_000051.3(ATM):c.(?_-1)_4109+?dup
NM_000051.3(ATM):c.-222T>A rs557953523
NM_000051.3(ATM):c.-235delC rs886047607
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.8851-?_*3591dup3912
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
NM_000051.4(ATM):c.*1204C>G rs2091350922
NM_000051.4(ATM):c.*1407G>A rs2091360907
NM_000051.4(ATM):c.*1431C>A rs2091362279
NM_000051.4(ATM):c.*1960del rs886047624
NM_000051.4(ATM):c.*238G>C rs2091280654
NM_000051.4(ATM):c.*2541_*2543del rs886047625
NM_000051.4(ATM):c.*2714dup rs532373195
NM_000051.4(ATM):c.*2779del rs886047627
NM_000051.4(ATM):c.*2824G>A rs2091439619
NM_000051.4(ATM):c.*2865G>A rs568150944
NM_000051.4(ATM):c.*2926T>C rs2091445014
NM_000051.4(ATM):c.*2935C>G rs886047628
NM_000051.4(ATM):c.*306C>G rs2091287759
NM_000051.4(ATM):c.*3354T>G rs886047631
NM_000051.4(ATM):c.*3386T>A rs754664818
NM_000051.4(ATM):c.*537A>C rs910689990
NM_000051.4(ATM):c.*540dup rs369583811
NM_000051.4(ATM):c.*541_*542del rs886047618
NM_000051.4(ATM):c.*541del rs886047619
NM_000051.4(ATM):c.*627A>G rs1014149927
NM_000051.4(ATM):c.*795C>T rs2091326775
NM_000051.4(ATM):c.*895dup rs200629108
NM_000051.4(ATM):c.-111_-109delinsAC rs1555051087
NM_000051.4(ATM):c.-31+595G>A rs1555051574
NM_000051.4(ATM):c.-74G>A rs3205808
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu) rs1440510829
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys) rs1018587967
NM_000051.4(ATM):c.1008T>G (p.Phe336Leu) rs1555068492
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser) rs138398778
NM_000051.4(ATM):c.100A>G (p.Ile34Val) rs1555054094
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu) rs202160435
NM_000051.4(ATM):c.1012A>C (p.Asn338His) rs751800302
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp) rs751800302
NM_000051.4(ATM):c.1014T>A (p.Asn338Lys)
NM_000051.4(ATM):c.1015A>G (p.Ile339Val) rs876659567
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr) rs2079887536
NM_000051.4(ATM):c.1018G>A (p.Ala340Thr)
NM_000051.4(ATM):c.1018G>T (p.Ala340Ser)
NM_000051.4(ATM):c.1019C>A (p.Ala340Asp) rs730881387
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly) rs730881387
NM_000051.4(ATM):c.1019C>T (p.Ala340Val) rs730881387
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg) rs1064794119
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys) rs2135268427
NM_000051.4(ATM):c.1030A>G (p.Asn344Asp)
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)
NM_000051.4(ATM):c.1036A>G (p.Ile346Val) rs1565375699
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn) rs1060501526
NM_000051.4(ATM):c.1038T>G (p.Ile346Met) rs749950833
NM_000051.4(ATM):c.1039G>C (p.Glu347Gln) rs529202615
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.4(ATM):c.1041A>C (p.Glu347Asp)
NM_000051.4(ATM):c.1041A>T (p.Glu347Asp)
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser) rs2079890107
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe) rs879254039
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)
NM_000051.4(ATM):c.1046T>C (p.Met349Thr) rs1555068577
NM_000051.4(ATM):c.1046T>G (p.Met349Arg) rs1555068577
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr) rs371713984
NM_000051.4(ATM):c.1051G>C (p.Asp351His) rs876659092
NM_000051.4(ATM):c.1052A>C (p.Asp351Ala)
NM_000051.4(ATM):c.1052A>G (p.Asp351Gly) rs1057521618
NM_000051.4(ATM):c.1052A>T (p.Asp351Val) rs1057521618
NM_000051.4(ATM):c.1056C>G (p.Ile352Met) rs1555068605
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg) rs2135269388
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr) rs1591511538
NM_000051.4(ATM):c.1060C>T (p.His354Tyr) rs2079892237
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg) rs2079892563
NM_000051.4(ATM):c.1065+11T>C
NM_000051.4(ATM):c.1065+13G>A rs2135270116
NM_000051.4(ATM):c.1065+3A>G rs1282724169
NM_000051.4(ATM):c.1065+4del rs2135269839
NM_000051.4(ATM):c.1065+5A>C rs1204741025
NM_000051.4(ATM):c.1065+9A>G
NM_000051.4(ATM):c.1065+9del
NM_000051.4(ATM):c.1065G>A (p.Gln355=)
NM_000051.4(ATM):c.1066-16_1066-10del
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1066G>A (p.Val356Ile) rs2079987798
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser) rs2135290032
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys) rs2079988487
NM_000051.4(ATM):c.1079A>T (p.Asp360Val) rs775767808
NM_000051.4(ATM):c.107A>C (p.Asp36Ala) rs1488019755
NM_000051.4(ATM):c.107A>G (p.Asp36Gly) rs1488019755
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1082C>G (p.Thr361Ser) rs1565378803
NM_000051.4(ATM):c.1083C>T (p.Thr361=) rs1555069552
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly) rs1591517251
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1090T>G (p.Leu364Val) rs764821887
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser) rs1555069575
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro) rs879254236
NM_000051.4(ATM):c.10G>T (p.Val4Leu) rs1438588853
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr) rs2079990831
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe) rs2079990831
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del) rs2079990728
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)
NM_000051.4(ATM):c.1104A>C (p.Gln368His) rs560691658
NM_000051.4(ATM):c.1106C>G (p.Ser369Cys) rs762557654
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.110C>G (p.Pro37Arg) rs1591446947
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser) rs879254289
NM_000051.4(ATM):c.1114A>T (p.Thr372Ser)
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile) rs765912563
NM_000051.4(ATM):c.1116_1117delinsAC (p.Thr373Pro)
NM_000051.4(ATM):c.1117A>G (p.Thr373Ala) rs751092163
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu) rs1185204988
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg) rs1555069640
NM_000051.4(ATM):c.112G>A (p.Glu38Lys) rs1591446961
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys) rs1555069665
NM_000051.4(ATM):c.1133G>A (p.Ser378Asn) rs1591517681
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly) rs786203602
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn) rs1462596554
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr) rs1462596554
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.4(ATM):c.1145T>A (p.Val382Asp)
NM_000051.4(ATM):c.1147C>G (p.Pro383Ala) rs864622650
NM_000051.4(ATM):c.1147C>T (p.Pro383Ser) rs864622650
NM_000051.4(ATM):c.1148C>G (p.Pro383Arg) rs1555069702
NM_000051.4(ATM):c.1148C>T (p.Pro383Leu) rs1555069702
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly) rs2135293079
NM_000051.4(ATM):c.1151G>C (p.Cys384Ser)
NM_000051.4(ATM):c.1154_1156del (p.Lys385del) rs2135293203
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys) rs878853484
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln) rs786202686
NM_000051.4(ATM):c.1159A>G (p.Lys387Glu) rs786202686
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.4(ATM):c.1161G>C (p.Lys387Asn)
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu) rs876659570
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.4(ATM):c.1164A>T (p.Lys388Asn)
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu) rs1060501704
NM_000051.4(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1169A>G (p.Glu390Gly) rs2135293668
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile) rs2135293721
NM_000051.4(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1177T>C (p.Trp393Arg)
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly) rs2135293953
NM_000051.4(ATM):c.1184T>C (p.Val395Ala) rs1591517993
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn) rs2079998724
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn) rs2079999164
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.4(ATM):c.1193A>T (p.Asp398Val)
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu) rs551872656
NM_000051.4(ATM):c.1195C>T (p.His399Tyr) rs1565379474
NM_000051.4(ATM):c.1197C>G (p.His399Gln) rs786201131
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)
NM_000051.4(ATM):c.1199T>G (p.Leu400Arg)
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu) rs772529339
NM_000051.4(ATM):c.1203G>T (p.Gln401His) rs1214283617
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr) rs1591518138
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu) rs730881340
NM_000051.4(ATM):c.1213A>G (p.Asn405Asp)
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile) rs786203815
NM_000051.4(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.4(ATM):c.1235+4A>G rs786203147
NM_000051.4(ATM):c.1235+4A>T rs786203147
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1235+5A>C rs1064793679
NM_000051.4(ATM):c.1235+5A>G rs1064793679
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-3T>A rs763976313
NM_000051.4(ATM):c.1236-3T>C rs763976313
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro) rs2080088877
NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)
NM_000051.4(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn) rs1565381748
NM_000051.4(ATM):c.1245T>G (p.Ile415Met) rs1060501554
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
NM_000051.4(ATM):c.1247C>T (p.Ala416Val) rs2080089501
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.124C>A (p.His42Asn) rs1591447034
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu) rs1565381867
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr) rs2080090371
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.4(ATM):c.1266G>C (p.Lys422Asn) rs1057520445
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala) rs1591522957
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu) rs147472613
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr) rs769214234
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>T (p.Ala425Val) rs1301649540
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
NM_000051.4(ATM):c.1278T>G (p.Ser426Arg) rs2135317047
NM_000051.4(ATM):c.127C>A (p.Leu43Ile) rs772591447
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
NM_000051.4(ATM):c.1294_1295delinsGG (p.Leu432Gly)
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg) rs546621356
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
NM_000051.4(ATM):c.1301C>T (p.Pro434Leu) rs2080093920
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln) rs1060501608
NM_000051.4(ATM):c.1309A>C (p.Met437Leu) rs2135318098
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)
NM_000051.4(ATM):c.130G>C (p.Asp44His)
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr) rs1320733816
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln) rs2080095349
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro) rs2080095349
NM_000051.4(ATM):c.131A>T (p.Asp44Val) rs150143957
NM_000051.4(ATM):c.1323G>C (p.Gln441His)
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe) rs1060501574
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro) rs1064794732
NM_000051.4(ATM):c.1327C>G (p.Leu443Val) rs1057524185
NM_000051.4(ATM):c.1330C>T (p.Pro444Ser)
NM_000051.4(ATM):c.1331C>A (p.Pro444His) rs2080096939
NM_000051.4(ATM):c.1331C>T (p.Pro444Leu)
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg) rs1292838154
NM_000051.4(ATM):c.1340G>C (p.Arg447Pro) rs760676955
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.4(ATM):c.1342C>G (p.His448Asp)
NM_000051.4(ATM):c.1342C>T (p.His448Tyr) rs2080098243
NM_000051.4(ATM):c.1343A>T (p.His448Leu)
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys) rs1555070786
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly) rs201719927
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser) rs1324524747
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1360T>C (p.Tyr454His) rs1555070814
NM_000051.4(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.4(ATM):c.1369C>G (p.Arg457Gly) rs749036865
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1370G>C (p.Arg457Pro)
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1372T>C (p.Cys458Arg) rs876660619
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
NM_000051.4(ATM):c.1374C>G (p.Cys458Trp) rs2135320531
NM_000051.4(ATM):c.1375C>G (p.Leu459Val) rs1064794635
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro) rs587782729
NM_000051.4(ATM):c.1379C>A (p.Thr460Lys)
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg) rs587781841
NM_000051.4(ATM):c.137A>C (p.His46Pro) rs1591447177
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys) rs781578507
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly) rs2080102342
NM_000051.4(ATM):c.1385T>C (p.Val462Ala) rs1555070869
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.4(ATM):c.1388C>G (p.Ala463Gly)
NM_000051.4(ATM):c.138T>G (p.His46Gln) rs770834907
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe) rs760191806
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser) rs1555070888
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg) rs770028453
NM_000051.4(ATM):c.1398A>G (p.Gln466=) rs1591523834
NM_000051.4(ATM):c.1399G>A (p.Asp467Asn) rs2135321547
NM_000051.4(ATM):c.13C>G (p.Leu5Val) rs2078805774
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu) rs2135321564
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.4(ATM):c.1406G>A (p.Arg469Lys)
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu) rs1591523878
NM_000051.4(ATM):c.1411A>C (p.Asn471His) rs2080104786
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys) rs1565382834
NM_000051.4(ATM):c.1417G>C (p.Glu473Gln)
NM_000051.4(ATM):c.1418A>G (p.Glu473Gly) rs1555070923
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.4(ATM):c.1427A>T (p.Gln476Leu) rs1397399631
NM_000051.4(ATM):c.1429A>G (p.Lys477Glu) rs2080106015
NM_000051.4(ATM):c.142G>C (p.Asp48His) rs2135013650
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro) rs2080106232
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.4(ATM):c.1436A>C (p.Asp479Ala) rs1555070958
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile) rs879254243
NM_000051.4(ATM):c.143A>G (p.Asp48Gly) rs2078822797
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe) rs370240037
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe) rs753808755
NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)
NM_000051.4(ATM):c.1447C>T (p.Leu483Phe) rs2135323121
NM_000051.4(ATM):c.1448T>C (p.Leu483Pro) rs2080107968
NM_000051.4(ATM):c.1450T>C (p.Trp484Arg) rs2080108178
NM_000051.4(ATM):c.1453A>G (p.Asn485Asp)
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys) rs1385019623
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)
NM_000051.4(ATM):c.145T>A (p.Ser49Thr) rs2135013712
NM_000051.4(ATM):c.1460T>C (p.Ile487Thr)
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg) rs2135323595
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys) rs377597949
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly) rs1591524158
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser) rs776412334
NM_000051.4(ATM):c.1468A>G (p.Ile490Val) rs761850075
NM_000051.4(ATM):c.1469T>C (p.Ile490Thr) rs1565383172
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.4(ATM):c.1470T>G (p.Ile490Met)
NM_000051.4(ATM):c.1478G>A (p.Arg493His) rs1565383235
NM_000051.4(ATM):c.1481G>C (p.Gly494Ala)
NM_000051.4(ATM):c.1481G>T (p.Gly494Val) rs786202233
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1484T>G (p.Ile495Arg)
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile) rs778890679
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr) rs2080111322
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr) rs1375637948
NM_000051.4(ATM):c.1490C>A (p.Ser497Tyr)
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe) rs2135324525
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.4(ATM):c.1493A>G (p.Glu498Gly)
NM_000051.4(ATM):c.1494G>C (p.Glu498Asp) rs763108858
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu) rs2080112487
NM_000051.4(ATM):c.1500A>G (p.Ile500Met) rs2135324896
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr) rs2080112799
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp) rs2135325176
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr) rs56365018
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu) rs1591524421
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.151_153del (p.Gln51del)
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe) rs1011518082
NM_000051.4(ATM):c.1523T>C (p.Leu508Pro) rs1565383502
NM_000051.4(ATM):c.1525G>A (p.Gly509Arg)
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.4(ATM):c.1531A>G (p.Ile511Val) rs1591524572
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr) rs2080115491
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg) rs2080115491
NM_000051.4(ATM):c.1533A>G (p.Ile511Met) rs2080115604
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser) rs2135326136
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro) rs753109010
NM_000051.4(ATM):c.1538A>G (p.Gln513Arg) rs753109010
NM_000051.4(ATM):c.1538A>T (p.Gln513Leu) rs753109010
NM_000051.4(ATM):c.1539G>C (p.Gln513His) rs2080116342
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys) rs1591524652
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.4(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr) rs1555071174
NM_000051.4(ATM):c.1549G>A (p.Val517Ile) rs2080117236
NM_000051.4(ATM):c.154G>A (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.154G>C (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.1550T>A (p.Val517Asp) rs777986229
NM_000051.4(ATM):c.1550T>C (p.Val517Ala) rs777986229
NM_000051.4(ATM):c.1553_1555del (p.Glu518del)
NM_000051.4(ATM):c.1554G>C (p.Glu518Asp) rs2080117769
NM_000051.4(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.4(ATM):c.1555G>T (p.Val519Phe) rs758056561
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn) rs2080118143
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly) rs2080118357
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys) rs2080118610
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser) rs768038315
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys) rs1060501667
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser) rs2080119755
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu) rs1555071242
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu) rs2080120731
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro) rs876660941
NM_000051.4(ATM):c.1591G>T (p.Ala531Ser) rs876660941
NM_000051.4(ATM):c.1592C>T (p.Ala531Val) rs1591524927
NM_000051.4(ATM):c.1598G>T (p.Arg533Ile) rs2080121541
NM_000051.4(ATM):c.1600C>T (p.Pro534Ser)
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg) rs2135328461
NM_000051.4(ATM):c.1607+10_1607+11delinsTT
NM_000051.4(ATM):c.1607+2dup rs2135328592
NM_000051.4(ATM):c.1607+3A>G rs2080122454
NM_000051.4(ATM):c.1607+4A>G
NM_000051.4(ATM):c.1607+5G>A rs766535949
NM_000051.4(ATM):c.1607G>C (p.Cys536Ser)
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe) rs769788188
NM_000051.4(ATM):c.1608-5T>C
NM_000051.4(ATM):c.1608-6T>C
NM_000051.4(ATM):c.1608T>C (p.Cys536=) rs2080162888
NM_000051.4(ATM):c.1608T>G (p.Cys536Trp)
NM_000051.4(ATM):c.1610C>A (p.Pro537His) rs587782463
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg) rs587782463
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu) rs587782463
NM_000051.4(ATM):c.1612G>C (p.Ala538Pro) rs2080163261
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu) rs2080163350
NM_000051.4(ATM):c.1613C>T (p.Ala538Val) rs1565385040
NM_000051.4(ATM):c.1621T>C (p.Cys541Arg) rs2080164132
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr) rs1555071682
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser) rs1555071682
NM_000051.4(ATM):c.1624T>G (p.Leu542Val) rs587781366
NM_000051.4(ATM):c.1625T>G (p.Leu542Trp)
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr) rs1565385130
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro) rs1565385130
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro) rs1565385177
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile) rs786203572
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
NM_000051.4(ATM):c.1645A>G (p.Ser549Gly)
NM_000051.4(ATM):c.1645A>T (p.Ser549Cys)
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn) rs2080166953
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr) rs864622285
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg) rs864622285
NM_000051.4(ATM):c.164T>G (p.Leu55Trp) rs1565344888
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.4(ATM):c.1651G>A (p.Val551Ile) rs1555071742
NM_000051.4(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.4(ATM):c.1654C>G (p.Pro552Ala)
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg) rs2135340121
NM_000051.4(ATM):c.1655C>T (p.Pro552Leu)
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)
NM_000051.4(ATM):c.165G>C (p.Leu55Phe) rs1555054230
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro) rs1060788
NM_000051.4(ATM):c.1661C>A (p.Thr554Lys) rs1060501694
NM_000051.4(ATM):c.1663G>T (p.Val555Leu) rs2080168708
NM_000051.4(ATM):c.1665A>G (p.Val555=) rs754367168
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)
NM_000051.4(ATM):c.1669A>G (p.Met557Val) rs1427517965
NM_000051.4(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.4(ATM):c.1676T>C (p.Ile559Thr) rs2080169884
NM_000051.4(ATM):c.1677A>G (p.Ile559Met) rs1190611996
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly) rs762476611
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu) rs2080170537
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
NM_000051.4(ATM):c.1684A>G (p.Asn562Asp)
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr) rs368209025
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile) rs368209025
NM_000051.4(ATM):c.1688T>C (p.Met563Thr)
NM_000051.4(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>T (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.168T>G (p.Asn56Lys) rs1591447362
NM_000051.4(ATM):c.1691G>T (p.Cys564Phe)
NM_000051.4(ATM):c.1692T>G (p.Cys564Trp)
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys) rs2080171822
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
NM_000051.4(ATM):c.1697T>C (p.Val566Ala) rs2080172143
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr) rs2135341638
NM_000051.4(ATM):c.169T>C (p.Trp57Arg) rs1555054238
NM_000051.4(ATM):c.169T>G (p.Trp57Gly)
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile) rs749216212
NM_000051.4(ATM):c.1714T>G (p.Leu572Val) rs749216212
NM_000051.4(ATM):c.171G>T (p.Trp57Cys) rs1555054249
NM_000051.4(ATM):c.1720G>C (p.Glu574Gln) rs770911276
NM_000051.4(ATM):c.1721A>C (p.Glu574Ala) rs1565385690
NM_000051.4(ATM):c.1721A>G (p.Glu574Gly)
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp) rs372334891
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.4(ATM):c.1729A>C (p.Met577Leu) rs1555071919
NM_000051.4(ATM):c.172G>A (p.Asp58Asn) rs876660661
NM_000051.4(ATM):c.172G>C (p.Asp58His) rs876660661
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg) rs1266358260
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.4(ATM):c.1739T>A (p.Leu580His) rs890554688
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro) rs890554688
NM_000051.4(ATM):c.173A>G (p.Asp58Gly) rs1378701359
NM_000051.4(ATM):c.173A>T (p.Asp58Val) rs1378701359
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)
NM_000051.4(ATM):c.1747T>C (p.Tyr583His) rs2135342937
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.4(ATM):c.1752G>C (p.Gln584His)
NM_000051.4(ATM):c.1756G>A (p.Glu586Lys) rs1565386004
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln) rs1565386004
NM_000051.4(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp) rs1555072017
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser) rs879254227
NM_000051.4(ATM):c.1759G>C (p.Gly587Arg) rs879254227
NM_000051.4(ATM):c.1760G>A (p.Gly587Asp) rs1060501553
NM_000051.4(ATM):c.1760G>T (p.Gly587Val) rs1060501553
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly) rs2080177696
NM_000051.4(ATM):c.176C>T (p.Ala59Val) rs760880388
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly) rs1060501558
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1778C>G (p.Thr593Arg) rs2135343992
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile) rs2135343992
NM_000051.4(ATM):c.1783G>A (p.Val595Met) rs2080179332
NM_000051.4(ATM):c.1786C>A (p.Pro596Thr)
NM_000051.4(ATM):c.1786C>G (p.Pro596Ala)
NM_000051.4(ATM):c.1787C>T (p.Pro596Leu)
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.4(ATM):c.178G>A (p.Val60Ile) rs1166668199
NM_000051.4(ATM):c.178G>C (p.Val60Leu) rs1166668199
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu) rs730881343
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro) rs1555072082
NM_000051.4(ATM):c.1798C>A (p.His600Asn) rs1555072089
NM_000051.4(ATM):c.1798C>T (p.His600Tyr) rs1555072089
NM_000051.4(ATM):c.1799A>G (p.His600Arg) rs2080180530
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly) rs1591528484
NM_000051.4(ATM):c.1802+1del
NM_000051.4(ATM):c.1802+3A>C
NM_000051.4(ATM):c.1802+3A>G rs1591528500
NM_000051.4(ATM):c.1802+3A>T rs1591528500
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn) rs763402339
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr) rs763402339
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp) rs2080226309
NM_000051.4(ATM):c.1805A>C (p.Asn602Thr) rs1173305253
NM_000051.4(ATM):c.1808T>G (p.Phe603Cys) rs2135352513
NM_000051.4(ATM):c.1811C>G (p.Pro604Arg)
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu) rs1565387411
NM_000051.4(ATM):c.1813C>G (p.His605Asp) rs786202928
NM_000051.4(ATM):c.1813C>T (p.His605Tyr) rs786202928
NM_000051.4(ATM):c.1814A>C (p.His605Pro) rs771877351
NM_000051.4(ATM):c.1814A>T (p.His605Leu)
NM_000051.4(ATM):c.1817T>C (p.Leu606Pro)
NM_000051.4(ATM):c.1819G>A (p.Val607Ile) rs878853489
NM_000051.4(ATM):c.1819G>T (p.Val607Leu) rs878853489
NM_000051.4(ATM):c.181T>A (p.Phe61Ile) rs2078825833
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys) rs779780896
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.1826A>T (p.Glu609Val) rs2080227710
NM_000051.4(ATM):c.1827G>T (p.Glu609Asp) rs1555072460
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg) rs1555072464
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)
NM_000051.4(ATM):c.182T>C (p.Phe61Ser) rs786203063
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)
NM_000051.4(ATM):c.1834C>A (p.Leu612Ile)
NM_000051.4(ATM):c.1834C>G (p.Leu612Val) rs747242300
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.4(ATM):c.1835T>A (p.Leu612His) rs1555072474
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro) rs1555072474
NM_000051.4(ATM):c.1837G>A (p.Val613Met) rs200124136
NM_000051.4(ATM):c.1838T>C (p.Val613Ala) rs762018538
NM_000051.4(ATM):c.1841G>A (p.Ser614Asn)
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile) rs770377706
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg) rs1060501523
NM_000051.4(ATM):c.1843C>G (p.Leu615Val) rs1380546088
NM_000051.4(ATM):c.1844T>A (p.Leu615His)
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1846A>G (p.Thr616Ala) rs587780615
NM_000051.4(ATM):c.1847C>G (p.Thr616Ser)
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile) rs533129312
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
NM_000051.4(ATM):c.1849A>G (p.Met617Val) rs1555072530
NM_000051.4(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.4(ATM):c.185+3A>G rs1372755571
NM_000051.4(ATM):c.185+4T>G rs1060501685
NM_000051.4(ATM):c.185+6C>G rs1555054299
NM_000051.4(ATM):c.185+6C>T rs1555054299
NM_000051.4(ATM):c.1851G>A (p.Met617Ile)
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)
NM_000051.4(ATM):c.1858T>A (p.Cys620Ser) rs2080230578
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg) rs2080230578
NM_000051.4(ATM):c.186-13T>A rs2135032350
NM_000051.4(ATM):c.1868C>T (p.Ala623Val)
NM_000051.4(ATM):c.1870A>C (p.Met624Leu) rs863224557
NM_000051.4(ATM):c.1872G>C (p.Met624Ile) rs1060501530
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr) rs2080231346
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
NM_000051.4(ATM):c.1898+5G>A rs1372634189
NM_000051.4(ATM):c.1898+5_1898+6delinsAA rs2135355386
NM_000051.4(ATM):c.1898+5del rs2135355372
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser)
NM_000051.4(ATM):c.1899-17A>G rs2135365023
NM_000051.4(ATM):c.1899-18G>T
NM_000051.4(ATM):c.1899-24_1899-5del
NM_000051.4(ATM):c.1899-3A>G rs1555073062
NM_000051.4(ATM):c.1899-4G>A rs2135365402
NM_000051.4(ATM):c.1899-5T>C rs1591533679
NM_000051.4(ATM):c.1899-5T>G rs1591533679
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1899-8T>A
NM_000051.4(ATM):c.1899-8T>C
NM_000051.4(ATM):c.1899-8dup
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.4(ATM):c.1901A>G (p.Glu634Gly) rs1555073069
NM_000051.4(ATM):c.1901A>T (p.Glu634Val) rs1555073069
NM_000051.4(ATM):c.1905C>A (p.His635Gln) rs1020808836
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.4(ATM):c.1906C>G (p.His636Asp)
NM_000051.4(ATM):c.1906C>T (p.His636Tyr) rs786203654
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1916A>G (p.Asp639Gly) rs1591533846
NM_000051.4(ATM):c.1916A>T (p.Asp639Val) rs1591533846
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu) rs879254190
NM_000051.4(ATM):c.1918_1920del (p.Lys640del) rs2135366155
NM_000051.4(ATM):c.1919A>C (p.Lys640Thr) rs2135366191
NM_000051.4(ATM):c.1919A>G (p.Lys640Arg)
NM_000051.4(ATM):c.1921G>C (p.Glu641Gln)
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys) rs1057519364
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp) rs786201469
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr) rs1555073128
NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)
NM_000051.4(ATM):c.1931C>T (p.Ser644Leu)
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu) rs876659709
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro) rs1485023251
NM_000051.4(ATM):c.1937C>T (p.Ser646Leu)
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys) rs1060501599
NM_000051.4(ATM):c.1941A>C (p.Glu647Asp) rs2080297000
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys) rs786202511
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del) rs1555073166
NM_000051.4(ATM):c.1948G>A (p.Glu650Lys) rs2135367169
NM_000051.4(ATM):c.1948G>C (p.Glu650Gln)
NM_000051.4(ATM):c.194A>G (p.Gln65Arg) rs760471526
NM_000051.4(ATM):c.1952T>A (p.Leu651Gln) rs1555073179
NM_000051.4(ATM):c.1952T>C (p.Leu651Pro) rs1555073179
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)
NM_000051.4(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.4(ATM):c.1962G>T (p.Gln654His) rs1416371202
NM_000051.4(ATM):c.1963A>G (p.Thr655Ala)
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile) rs2080299187
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile) rs754800755
NM_000051.4(ATM):c.196A>G (p.Lys66Glu) rs1565346656
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn) rs1343017824
NM_000051.4(ATM):c.1972G>C (p.Asp658His) rs1343017824
NM_000051.4(ATM):c.1973A>T (p.Asp658Val) rs1177954052
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu) rs1555073229
NM_000051.4(ATM):c.1975A>C (p.Lys659Gln)
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.4(ATM):c.1976A>T (p.Lys659Met) rs1565390043
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn) rs1060501565
NM_000051.4(ATM):c.1979T>A (p.Met660Lys) rs1298234172
NM_000051.4(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
NM_000051.4(ATM):c.1980G>T (p.Met660Ile) rs2080301342
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn) rs1029931261
NM_000051.4(ATM):c.1981G>C (p.Asp661His) rs1029931261
NM_000051.4(ATM):c.1982A>C (p.Asp661Ala) rs1565390124
NM_000051.4(ATM):c.198A>T (p.Lys66Asn) rs540920248
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu) rs1060501645
NM_000051.4(ATM):c.1993A>G (p.Ile665Val) rs1060501645
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.4(ATM):c.19G>C (p.Asp7His) rs2078806188
NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)
NM_000051.4(ATM):c.19_21del (p.Asp7del)
NM_000051.4(ATM):c.2008G>A (p.Gly670Ser)
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp) rs887944555
NM_000051.4(ATM):c.2009G>T (p.Gly670Val) rs887944555
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.2011A>G (p.Ile671Val) rs730881344
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln) rs2080305905
NM_000051.4(ATM):c.2020C>T (p.His674Tyr)
NM_000051.4(ATM):c.2022C>A (p.His674Gln) rs2080306836
NM_000051.4(ATM):c.2022C>G (p.His674Gln) rs2080306836
NM_000051.4(ATM):c.2029A>G (p.Ser677Gly) rs568026188
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2038T>C (p.Phe680Leu)
NM_000051.4(ATM):c.203T>C (p.Ile68Thr) rs1591451502
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys) rs1060501585
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe) rs1060501585
NM_000051.4(ATM):c.2044G>C (p.Val682Leu)
NM_000051.4(ATM):c.2044G>T (p.Val682Phe) rs2135369797
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
NM_000051.4(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.4(ATM):c.2052G>C (p.Gln684His) rs775890872
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser) rs1412443702
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile) rs1412443702
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.2059A>C (p.Lys687Gln) rs2135370162
NM_000051.4(ATM):c.205C>A (p.Gln69Lys) rs876660631
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg) rs2080312441
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del) rs2135370232
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu) rs1591534804
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro) rs1555073438
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)
NM_000051.4(ATM):c.2071G>C (p.Asp691His) rs762394404
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe) rs2135370698
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg) rs879254178
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu) rs752550257
NM_000051.4(ATM):c.2087G>T (p.Gly696Val) rs752550257
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala) rs2135371120
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.4(ATM):c.2098C>A (p.Gln700Lys) rs786202743
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu) rs786202743
NM_000051.4(ATM):c.2102T>C (p.Leu701Pro)
NM_000051.4(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.4(ATM):c.2107A>C (p.Asn703His) rs2135371578
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser) rs587781304
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser) rs753903558
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
NM_000051.4(ATM):c.2113T>C (p.Tyr705His) rs757260641
NM_000051.4(ATM):c.2113T>G (p.Tyr705Asp)
NM_000051.4(ATM):c.2114A>G (p.Tyr705Cys)
NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala) rs536609092
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly) rs2080318638
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2124+6A>G rs550998406
NM_000051.4(ATM):c.2125-5T>G rs2080471238
NM_000051.4(ATM):c.2125A>C (p.Ile709Leu) rs864622259
NM_000051.4(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.4(ATM):c.2125A>T (p.Ile709Phe) rs864622259
NM_000051.4(ATM):c.2126T>A (p.Ile709Asn) rs2135392028
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2129C>A (p.Thr710Lys) rs1565394456
NM_000051.4(ATM):c.2131_2136dup (p.Ser712_Glu713insAsnSer)
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr) rs1565394509
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2135C>T (p.Ser712Leu) rs1057516620
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala) rs2080473704
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser) rs1555074846
NM_000051.4(ATM):c.2143C>G (p.Leu715Val) rs758864982
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro) rs1555074855
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg) rs1555074855
NM_000051.4(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.4(ATM):c.2147T>G (p.Val716Gly) rs864622294
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.214A>G (p.Thr72Ala) rs1223998386
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2155T>C (p.Ser719Pro)
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu) rs2080475075
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro) rs55830714
NM_000051.4(ATM):c.215C>A (p.Thr72Lys) rs876658893
NM_000051.4(ATM):c.215C>G (p.Thr72Arg) rs876658893
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro) rs2080475582
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg) rs2080475582
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe) rs1555074886
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.4(ATM):c.2171G>A (p.Gly724Asp) rs1555074904
NM_000051.4(ATM):c.2173G>A (p.Val725Ile) rs1272918725
NM_000051.4(ATM):c.2174T>A (p.Val725Asp) rs1565394761
NM_000051.4(ATM):c.2176C>G (p.Leu726Val) rs775266056
NM_000051.4(ATM):c.2179G>A (p.Gly727Ser) rs2080477463
NM_000051.4(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp) rs1446080226
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2185T>C (p.Tyr729His) rs1190793955
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys) rs1555074940
NM_000051.4(ATM):c.2192A>G (p.Tyr731Cys)
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
NM_000051.4(ATM):c.2196G>A (p.Met732Ile) rs2135393803
NM_000051.4(ATM):c.2200G>A (p.Val734Ile) rs1390127104
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr) rs1565395012
NM_000051.4(ATM):c.2205A>G (p.Ile735Met) rs2135394034
NM_000051.4(ATM):c.2206G>A (p.Ala736Thr) rs2080480637
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)
NM_000051.4(ATM):c.2209G>A (p.Glu737Lys) rs2135394119
NM_000051.4(ATM):c.220T>A (p.Cys74Ser) rs1565346819
NM_000051.4(ATM):c.2210A>G (p.Glu737Gly)
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
NM_000051.4(ATM):c.2217A>T (p.Glu739Asp)
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.4(ATM):c.2218G>C (p.Ala740Pro) rs786201866
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr) rs864622515
NM_000051.4(ATM):c.2222A>C (p.Tyr741Ser) rs878853492
NM_000051.4(ATM):c.2222A>T (p.Tyr741Phe) rs878853492
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr) rs2135394428
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn) rs2080482083
NM_000051.4(ATM):c.2232A>T (p.Glu744Asp) rs2080482588
NM_000051.4(ATM):c.2243A>G (p.Lys748Arg)
NM_000051.4(ATM):c.2244A>T (p.Lys748Asn) rs1591542559
NM_000051.4(ATM):c.2245G>A (p.Ala749Thr) rs876660163
NM_000051.4(ATM):c.2245G>C (p.Ala749Pro) rs876660163
NM_000051.4(ATM):c.2246C>G (p.Ala749Gly) rs867443346
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu) rs2080484145
NM_000051.4(ATM):c.2250+3A>G rs2080484745
NM_000051.4(ATM):c.2250+5G>C rs1555075047
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn) rs1137887
NM_000051.4(ATM):c.2251-11A>C
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2251-15T>A rs1565396892
NM_000051.4(ATM):c.2251-1_2257dup rs2080573042
NM_000051.4(ATM):c.2251-3T>C rs752951518
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro) rs2135405669
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)
NM_000051.4(ATM):c.2270G>T (p.Gly757Val) rs375091571
NM_000051.4(ATM):c.2275A>T (p.Ser759Cys)
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
NM_000051.4(ATM):c.2278A>C (p.Ile760Leu)
NM_000051.4(ATM):c.2278A>G (p.Ile760Val) rs1555075672
NM_000051.4(ATM):c.2279T>C (p.Ile760Thr)
NM_000051.4(ATM):c.227G>A (p.Arg76Lys) rs1565346853
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala) rs2235011
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)
NM_000051.4(ATM):c.2285T>C (p.Leu762Pro) rs2080576437
NM_000051.4(ATM):c.228A>C (p.Arg76Ser) rs1591451698
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg) rs2080576982
NM_000051.4(ATM):c.2294A>G (p.Asn765Ser)
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu) rs748125666
NM_000051.4(ATM):c.2297A>G (p.Lys766Arg)
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)
NM_000051.4(ATM):c.229A>C (p.Ile77Leu) rs1064796032
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser) rs2080577809
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys) rs1591546453
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly) rs1377126475
NM_000051.4(ATM):c.2308G>A (p.Glu770Lys) rs1555075721
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly) rs1565397219
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser) rs2135407049
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.4(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.4(ATM):c.232G>A (p.Ala78Thr) rs878853493
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys) rs876660432
NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp) rs1555075751
NM_000051.4(ATM):c.2335A>G (p.Met779Val)
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del) rs1555075763
NM_000051.4(ATM):c.2338A>G (p.Met780Val) rs587781446
NM_000051.4(ATM):c.2339T>C (p.Met780Thr)
NM_000051.4(ATM):c.233C>G (p.Ala78Gly) rs876659669
NM_000051.4(ATM):c.2345T>C (p.Leu782Pro) rs2135407647
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly) rs1555075786
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile) rs2135407791
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu) rs587782128
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg) rs1565397441
NM_000051.4(ATM):c.2356T>G (p.Cys786Gly)
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp) rs2135408030
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe) rs2080584367
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly) rs641252
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser) rs1591546766
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys) rs2080585059
NM_000051.4(ATM):c.236A>G (p.Lys79Arg) rs1591451757
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile) rs2135408339
NM_000051.4(ATM):c.2376+4A>G
NM_000051.4(ATM):c.2376+5G>T
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2377-350A>G
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg) rs2080692590
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg) rs876658149
NM_000051.4(ATM):c.2381G>C (p.Ser794Thr)
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg) rs1555076601
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala) rs1060501651
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser) rs1060501651
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser) rs1555076612
NM_000051.4(ATM):c.2390A>C (p.Lys797Thr) rs2135420825
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr) rs1591551217
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)
NM_000051.4(ATM):c.239C>T (p.Pro80Leu) rs876659996
NM_000051.4(ATM):c.23T>C (p.Leu8Pro) rs1555053885
NM_000051.4(ATM):c.23T>G (p.Leu8Arg) rs1555053885
NM_000051.4(ATM):c.2401G>A (p.Gly801Ser) rs1565399865
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp) rs1591551289
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile) rs2080695065
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu) rs2080695332
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu) rs1416444032
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly) rs780619951
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp) rs1565399936
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile) rs2080697096
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2429A>T (p.Lys810Met) rs2080698039
NM_000051.4(ATM):c.242A>G (p.Asn81Ser) rs2135034894
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.4(ATM):c.2436G>T (p.Met812Ile)
NM_000051.4(ATM):c.2438A>G (p.Asn813Ser)
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn) rs2135421927
NM_000051.4(ATM):c.2441A>T (p.Asp814Val) rs1565400035
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2444T>C (p.Ile815Thr) rs2135422030
NM_000051.4(ATM):c.2444T>G (p.Ile815Ser)
NM_000051.4(ATM):c.2445T>G (p.Ile815Met) rs2080699276
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly) rs1351798568
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr) rs587778067
NM_000051.4(ATM):c.244G>A (p.Val82Ile) rs1412024666
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2452A>C (p.Ile818Leu) rs2080700458
NM_000051.4(ATM):c.2452A>G (p.Ile818Val) rs2080700458
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr) rs1591551563
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu) rs2080701196
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2466+10_2466+16del
NM_000051.4(ATM):c.2466+3A>C
NM_000051.4(ATM):c.2466+3A>G
NM_000051.4(ATM):c.2466+4A>C rs563482577
NM_000051.4(ATM):c.2466+4A>G rs563482577
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2466+6T>C rs2135422532
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr) rs786202895
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.4(ATM):c.2473T>G (p.Phe825Val) rs2081300268
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2478C>G (p.Ile826Met) rs1591587125
NM_000051.4(ATM):c.2483A>T (p.Lys828Met) rs2081301026
NM_000051.4(ATM):c.2484G>T (p.Lys828Asn)
NM_000051.4(ATM):c.2485C>A (p.Pro829Thr) rs1060501546
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala) rs1060501546
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2486C>G (p.Pro829Arg)
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu) rs1565416001
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser) rs773582901
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn) rs1060501595
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr) rs1060501595
NM_000051.4(ATM):c.2492A>T (p.Asp831Val) rs587781352
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser) rs2229022
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly) rs2229022
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro) rs199875915
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2497G>A (p.Gly833Arg) rs876658804
NM_000051.4(ATM):c.24_26del (p.Leu9del)
NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu) rs879254208
NM_000051.4(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.4(ATM):c.2504T>A (p.Val835Glu) rs765118015
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp) rs2135506209
NM_000051.4(ATM):c.2510C>T (p.Ser837Leu)
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2514G>T (p.Met838Ile) rs2135506364
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala) rs1591587459
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly) rs786202605
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu) rs1591587498
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.4(ATM):c.2522A>T (p.Asp841Val)
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del) rs956305036
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser) rs1060501591
NM_000051.4(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro) rs2135507057
NM_000051.4(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.4(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.4(ATM):c.253T>C (p.Ser85Pro)
NM_000051.4(ATM):c.2540T>A (p.Met847Lys) rs1382712243
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)
NM_000051.4(ATM):c.2541G>A (p.Met847Ile) rs864622131
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly) rs1060501555
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2545G>T (p.Val849Leu) rs1591587875
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.2549A>G (p.Glu850Gly) rs876660456
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn) rs1555082218
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
NM_000051.4(ATM):c.2553T>A (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2555A>G (p.Gln852Arg) rs1265258461
NM_000051.4(ATM):c.2556G>C (p.Gln852His) rs2081307368
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.4(ATM):c.2558C>T (p.Ser853Leu) rs1555082235
NM_000051.4(ATM):c.2560T>C (p.Ser854Pro) rs1060501632
NM_000051.4(ATM):c.2563A>G (p.Met855Val) rs749844591
NM_000051.4(ATM):c.2563A>T (p.Met855Leu) rs749844591
NM_000051.4(ATM):c.2565G>C (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2565G>T (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2566A>C (p.Asn856His) rs774757757
NM_000051.4(ATM):c.2566A>G (p.Asn856Asp) rs774757757
NM_000051.4(ATM):c.2566A>T (p.Asn856Tyr)
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.256A>G (p.Thr86Ala) rs1565347018
NM_000051.4(ATM):c.2575A>G (p.Asn859Asp)
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser) rs1565416655
NM_000051.4(ATM):c.2578G>C (p.Asp860His) rs587779825
NM_000051.4(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.4(ATM):c.257C>T (p.Thr86Ile) rs755326770
NM_000051.4(ATM):c.2581T>A (p.Tyr861Asn) rs1565416692
NM_000051.4(ATM):c.2581T>C (p.Tyr861His) rs1565416692
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys) rs2081309790
NM_000051.4(ATM):c.2584C>G (p.Pro862Ala) rs876660537
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser) rs876660537
NM_000051.4(ATM):c.2585C>A (p.Pro862His) rs1565416725
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn) rs2135508489
NM_000051.4(ATM):c.2587G>C (p.Asp863His) rs2135508489
NM_000051.4(ATM):c.2587_2589dup (p.Asp863dup) rs2081310087
NM_000051.4(ATM):c.2588A>G (p.Asp863Gly)
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg) rs764842086
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del) rs863224823
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn) rs1591588450
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile) rs1591588450
NM_000051.4(ATM):c.2596G>A (p.Val866Ile) rs2135508700
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
NM_000051.4(ATM):c.25C>T (p.Leu9Phe) rs2078806539
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn) rs1591588485
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu) rs145513717
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2608A>C (p.Asn870His) rs61734354
NM_000051.4(ATM):c.2608A>T (p.Asn870Tyr)
NM_000051.4(ATM):c.2609A>G (p.Asn870Ser) rs2135508997
NM_000051.4(ATM):c.2610C>G (p.Asn870Lys) rs587780618
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys) rs1591588632
NM_000051.4(ATM):c.2611G>C (p.Glu871Gln) rs1591588632
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly) rs2081311812
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu) rs2081312461
NM_000051.4(ATM):c.2618G>C (p.Gly873Ala) rs2081312461
NM_000051.4(ATM):c.2618G>T (p.Gly873Val) rs2081312461
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile) rs2081312995
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg) rs1591588785
NM_000051.4(ATM):c.2626C>G (p.Gln876Glu)
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly) rs2081313542
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.4(ATM):c.2638+5A>G rs2081314537
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg) rs2135509665
NM_000051.4(ATM):c.2638_2638+7dup rs2081313995
NM_000051.4(ATM):c.2639-4_2639-3del rs1555083075
NM_000051.4(ATM):c.2639-6T>G
NM_000051.4(ATM):c.2639-7T>G rs912886321
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala) rs2135522879
NM_000051.4(ATM):c.2648A>G (p.Asn883Ser) rs2081380347
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys) rs1555083093
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala) rs1591593623
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser) rs1591593623
NM_000051.4(ATM):c.2653T>G (p.Leu885Val)
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser) rs1555083096
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser) rs575762025
NM_000051.4(ATM):c.265T>C (p.Ser89Pro) rs2135035804
NM_000051.4(ATM):c.2660A>C (p.Glu887Ala)
NM_000051.4(ATM):c.2662G>A (p.Glu888Lys)
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.4(ATM):c.2668C>G (p.Leu890Val) rs937133424
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro) rs1411479824
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg) rs1411479824
NM_000051.4(ATM):c.266C>T (p.Ser89Phe) rs375605135
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu) rs876660780
NM_000051.4(ATM):c.2675A>C (p.Lys892Thr)
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr) rs1400094698
NM_000051.4(ATM):c.2681A>G (p.Asp894Gly) rs113482790
NM_000051.4(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile) rs1299030225
NM_000051.4(ATM):c.2685_2699dup (p.Asp899_Met900insIleLeuPheLeuAsp)
NM_000051.4(ATM):c.2686C>A (p.Leu896Ile)
NM_000051.4(ATM):c.2686C>G (p.Leu896Val) rs747696133
NM_000051.4(ATM):c.2686C>T (p.Leu896Phe) rs747696133
NM_000051.4(ATM):c.268A>G (p.Arg90Gly) rs868748140
NM_000051.4(ATM):c.2690T>A (p.Phe897Tyr)
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser) rs876658373
NM_000051.4(ATM):c.2691C>G (p.Phe897Leu) rs878853496
NM_000051.4(ATM):c.2692T>G (p.Leu898Val) rs2135524133
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe) rs774395596
NM_000051.4(ATM):c.2695G>C (p.Asp899His)
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly) rs1555083190
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu) rs786202978
NM_000051.4(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.4(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe) rs863224559
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu) rs2135524412
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys) rs1555083208
NM_000051.4(ATM):c.2715T>G (p.Cys905Trp) rs2081385130
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser) rs1064794688
NM_000051.4(ATM):c.2719T>C (p.Cys907Arg) rs2135524707
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr) rs775371838
NM_000051.4(ATM):c.2722G>A (p.Val908Ile) rs1190648236
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser) rs786203175
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile) rs1555083259
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys) rs764409952
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu) rs764409952
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu) rs730881353
NM_000051.4(ATM):c.2736G>C (p.Gln912His)
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala) rs2135525084
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser) rs2135525084
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn) rs1266220962
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile) rs1266220962
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp) rs1591594250
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala) rs786203106
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn) rs876660912
NM_000051.4(ATM):c.2744C>G (p.Thr915Ser) rs876660912
NM_000051.4(ATM):c.2746G>A (p.Val916Met) rs2081388106
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
NM_000051.4(ATM):c.274A>C (p.Lys92Gln)
NM_000051.4(ATM):c.274A>G (p.Lys92Glu) rs756969590
NM_000051.4(ATM):c.2750C>G (p.Ser917Cys) rs2081388548
NM_000051.4(ATM):c.2750C>T (p.Ser917Phe) rs2081388548
NM_000051.4(ATM):c.2750_2752del (p.Ser917del)
NM_000051.4(ATM):c.2752T>C (p.Phe918Leu) rs1060501549
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly) rs1591594384
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr) rs1555083326
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2764G>C (p.Asp922His) rs786201670
NM_000051.4(ATM):c.2765A>G (p.Asp922Gly) rs1555083339
NM_000051.4(ATM):c.2765A>T (p.Asp922Val) rs1555083339
NM_000051.4(ATM):c.2767A>C (p.Ile923Leu)
NM_000051.4(ATM):c.2767A>G (p.Ile923Val)
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn) rs2081390566
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr) rs2081390566
NM_000051.4(ATM):c.2769T>G (p.Ile923Met) rs2081390749
NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup) rs2078889184
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu) rs587782298
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser) rs1591594506
NM_000051.4(ATM):c.277A>G (p.Lys93Glu) rs1555055234
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser) rs2081392000
NM_000051.4(ATM):c.2784A>T (p.Leu928Phe)
NM_000051.4(ATM):c.2785A>G (p.Met929Val) rs774067793
NM_000051.4(ATM):c.2786T>A (p.Met929Lys) rs745737218
NM_000051.4(ATM):c.2786T>G (p.Met929Arg) rs745737218
NM_000051.4(ATM):c.2788T>A (p.Leu930Ile) rs2135526232
NM_000051.4(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly) rs1060501623
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr) rs56087610
NM_000051.4(ATM):c.279G>C (p.Lys93Asn) rs368196317
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr) rs1555083387
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg) rs876659788
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro) rs35813135
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys) rs3218708
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806C>G (p.Leu936Val) rs1422401186
NM_000051.4(ATM):c.2809G>C (p.Glu937Gln) rs1565420027
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp) rs1060501705
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala) rs1415567368
NM_000051.4(ATM):c.2812C>T (p.Pro938Ser) rs1415567368
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu) rs1183804155
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2819A>G (p.Lys940Arg) rs762078586
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.281T>A (p.Met94Lys) rs2078889761
NM_000051.4(ATM):c.2820A>C (p.Lys940Asn) rs1477142492
NM_000051.4(ATM):c.2820A>T (p.Lys940Asn)
NM_000051.4(ATM):c.2827C>T (p.His943Tyr) rs2135527318
NM_000051.4(ATM):c.2828A>C (p.His943Pro) rs2081396482
NM_000051.4(ATM):c.2828A>G (p.His943Arg)
NM_000051.4(ATM):c.282G>A (p.Met94Ile) rs2078889859
NM_000051.4(ATM):c.2833C>T (p.His945Tyr) rs2081396911
NM_000051.4(ATM):c.2834A>G (p.His945Arg) rs752053874
NM_000051.4(ATM):c.2836A>C (p.Met946Leu) rs587781992
NM_000051.4(ATM):c.2838+3del
NM_000051.4(ATM):c.2838+5G>A rs1555083472
NM_000051.4(ATM):c.2838+5G>T rs1555083472
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838+6T>G
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGC
NM_000051.4(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.4(ATM):c.2842C>G (p.Leu948Val) rs1591602173
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln) rs2135547361
NM_000051.4(ATM):c.2843T>C (p.Leu948Pro) rs2135547361
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)
NM_000051.4(ATM):c.2847G>A (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2847G>C (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2848C>G (p.Leu950Val) rs763064034
NM_000051.4(ATM):c.2849T>A (p.Leu950His) rs786203054
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro) rs786203054
NM_000051.4(ATM):c.284A>G (p.Gln95Arg)
NM_000051.4(ATM):c.284A>T (p.Gln95Leu)
NM_000051.4(ATM):c.2852T>C (p.Leu951Ser)
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys) rs1591602248
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala) rs2135547667
NM_000051.4(ATM):c.285G>C (p.Gln95His) rs1316615402
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe) rs2081549194
NM_000051.4(ATM):c.2861T>A (p.Leu954His) rs1555084648
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg) rs1555084648
NM_000051.4(ATM):c.2864C>A (p.Pro955His) rs1591602301
NM_000051.4(ATM):c.2870A>T (p.Glu957Val)
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser) rs1591602381
NM_000051.4(ATM):c.2878C>T (p.Pro960Ser)
NM_000051.4(ATM):c.2879C>G (p.Pro960Arg) rs587779828
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu) rs587779828
NM_000051.4(ATM):c.2884C>T (p.Pro962Ser) rs1377928885
NM_000051.4(ATM):c.2885C>G (p.Pro962Arg) rs1591602470
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu) rs1591602470
NM_000051.4(ATM):c.2893G>C (p.Asp965His) rs1064793035
NM_000051.4(ATM):c.2896G>A (p.Val966Ile) rs1060501598
NM_000051.4(ATM):c.2896G>T (p.Val966Phe)
NM_000051.4(ATM):c.2897T>C (p.Val966Ala)
NM_000051.4(ATM):c.289A>G (p.Ile97Val) rs1565347206
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
NM_000051.4(ATM):c.2907_2909del (p.Leu970del) rs2135548669
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro) rs587782521
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser) rs2135548838
NM_000051.4(ATM):c.2917C>G (p.Leu973Val)
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
NM_000051.4(ATM):c.2921+17T>G
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2921+3A>C rs2135549049
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2921+9T>G
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr) rs538105098
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2922-3C>T rs750087017
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys) rs765848319
NM_000051.4(ATM):c.2925T>G (p.Asn975Lys)
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.2926G>T (p.Val976Leu) rs1178628574
NM_000051.4(ATM):c.292A>T (p.Ser98Cys)
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe) rs876660628
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
NM_000051.4(ATM):c.2935T>G (p.Leu979Val)
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly) rs587780619
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro) rs749471737
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu) rs749471737
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr) rs1060501560
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu) rs2135552016
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg) rs1239016428
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2954A>C (p.Asp985Ala)
NM_000051.4(ATM):c.2954A>G (p.Asp985Gly) rs864622159
NM_000051.4(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.4(ATM):c.2957T>C (p.Val986Ala) rs373225328
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly) rs1305059653
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu) rs772327699
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)
NM_000051.4(ATM):c.296G>A (p.Ser99Asn) rs2078891183
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser) rs1227701474
NM_000051.4(ATM):c.2974A>G (p.Asn992Asp)
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.4(ATM):c.2976C>A (p.Asn992Lys) rs1283172338
NM_000051.4(ATM):c.2976C>G (p.Asn992Lys) rs1283172338
NM_000051.4(ATM):c.2977C>G (p.His993Asp) rs2081569641
NM_000051.4(ATM):c.2977C>T (p.His993Tyr)
NM_000051.4(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.4(ATM):c.2978A>T (p.His993Leu) rs878853498
NM_000051.4(ATM):c.297T>G (p.Ser99Arg)
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.2986C>T (p.His996Tyr) rs2081570384
NM_000051.4(ATM):c.2987A>C (p.His996Pro) rs876660034
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.2988T>G (p.His996Gln) rs559676197
NM_000051.4(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.4(ATM):c.2989G>C (p.Val997Leu) rs1487902875
NM_000051.4(ATM):c.2991A>T (p.Val997=)
NM_000051.4(ATM):c.2993T>G (p.Val998Gly) rs2135553024
NM_000051.4(ATM):c.2997A>C (p.Lys999Asn)
NM_000051.4(ATM):c.2998A>T (p.Asn1000Tyr) rs2081571365
NM_000051.4(ATM):c.2999A>G (p.Asn1000Ser) rs1555085128
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile) rs1555085128
NM_000051.4(ATM):c.29T>C (p.Ile10Thr) rs2135004898
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys) rs2135553183
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg) rs1565425547
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu) rs1555085143
NM_000051.4(ATM):c.300G>C (p.Leu100Phe) rs878853499
NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn) rs1060501696
NM_000051.4(ATM):c.3011G>C (p.Ser1004Thr) rs1060501696
NM_000051.4(ATM):c.3013A>C (p.Asn1005His) rs745954659
NM_000051.4(ATM):c.3016A>T (p.Met1006Leu)
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu) rs1591604426
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro) rs2135553747
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys) rs2135553767
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala) rs959314809
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys) rs1387785337
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg) rs1387785337
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys) rs1565425752
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr) rs2135554187
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)
NM_000051.4(ATM):c.3044A>C (p.Gln1015Pro) rs587778070
NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg) rs587778070
NM_000051.4(ATM):c.3045A>C (p.Gln1015His) rs1064796404
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val) rs1565425832
NM_000051.4(ATM):c.3050A>G (p.Gln1017Arg)
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys) rs186626274
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.305A>G (p.Lys102Arg)
NM_000051.4(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.4(ATM):c.3060A>G (p.Thr1020=) rs1591604737
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg) rs730882129
NM_000051.4(ATM):c.306A>G (p.Lys102=) rs1060501626
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr) rs1397754737
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro) rs1397754737
NM_000051.4(ATM):c.3070G>T (p.Ala1024Ser)
NM_000051.4(ATM):c.3073T>C (p.Phe1025Leu) rs2135554935
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys) rs1555085266
NM_000051.4(ATM):c.3075T>G (p.Phe1025Leu) rs1591604883
NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg) rs2135555027
NM_000051.4(ATM):c.3077+12C>A
NM_000051.4(ATM):c.3077+4G>C rs201222237
NM_000051.4(ATM):c.3077+4G>T rs201222237
NM_000051.4(ATM):c.3077+6T>A rs1565426002
NM_000051.4(ATM):c.3077+6T>C
NM_000051.4(ATM):c.3077+9A>G
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser) rs587782103
NM_000051.4(ATM):c.3078-10T>G rs2135564722
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3078-5T>G rs1565427457
NM_000051.4(ATM):c.3078-9T>G rs2081637337
NM_000051.4(ATM):c.307T>A (p.Tyr103Asn)
NM_000051.4(ATM):c.3080A>C (p.His1027Pro) rs786204217
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3081T>A (p.His1027Gln) rs864622587
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val) rs1263930458
NM_000051.4(ATM):c.3083T>A (p.Leu1028Gln) rs1555085776
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro) rs1555085776
NM_000051.4(ATM):c.3083T>G (p.Leu1028Arg) rs1555085776
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.4(ATM):c.3089A>G (p.Lys1030Arg) rs2081639453
NM_000051.4(ATM):c.308A>C (p.Tyr103Ser)
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys) rs2081639925
NM_000051.4(ATM):c.3100T>A (p.Tyr1034Asn) rs975639638
NM_000051.4(ATM):c.3100T>C (p.Tyr1034His) rs975639638
NM_000051.4(ATM):c.3100_3114dup (p.Tyr1034_Val1038dup) rs2135565534
NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys)
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met) rs1565427678
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro) rs2135565790
NM_000051.4(ATM):c.310T>C (p.Phe104Leu) rs1555055306
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile) rs876659877
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.4(ATM):c.3113T>G (p.Val1038Gly)
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)
NM_000051.4(ATM):c.3120G>C (p.Met1040Ile) rs781519408
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr) rs748752687
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser) rs748752687
NM_000051.4(ATM):c.3124C>G (p.Leu1042Val) rs1177614796
NM_000051.4(ATM):c.3127G>A (p.Val1043Ile)
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser) rs1565427876
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe) rs1591608576
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3137T>G (p.Leu1046Arg)
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro) rs1555085890
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly) rs876659217
NM_000051.4(ATM):c.3153+3G>A rs1565428067
NM_000051.4(ATM):c.3153+3G>T rs1565428067
NM_000051.4(ATM):c.3153+4A>G rs1060501620
NM_000051.4(ATM):c.3153+4A>T rs1060501620
NM_000051.4(ATM):c.3153+5G>A rs1591608756
NM_000051.4(ATM):c.3153+5G>T
NM_000051.4(ATM):c.3153+6T>C
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro) rs1064793036
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly) rs876660350
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val) rs2081657910
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.4(ATM):c.3175G>T (p.Ala1059Ser) rs370282831
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val) rs2081660483
NM_000051.4(ATM):c.317A>G (p.Lys106Arg) rs878853501
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val) rs1565428509
NM_000051.4(ATM):c.3181C>T (p.Leu1061Phe) rs1565428509
NM_000051.4(ATM):c.3185A>C (p.Asn1062Thr)
NM_000051.4(ATM):c.3186T>G (p.Asn1062Lys)
NM_000051.4(ATM):c.3187G>A (p.Val1063Ile) rs2135570586
NM_000051.4(ATM):c.3188T>C (p.Val1063Ala) rs2081661362
NM_000051.4(ATM):c.318A>C (p.Lys106Asn) rs1555055319
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile) rs1480804197
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val) rs762810180
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.4(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg) rs926564671
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr) rs766342338
NM_000051.4(ATM):c.3200A>G (p.Asp1067Gly) rs1591609662
NM_000051.4(ATM):c.3200A>T (p.Asp1067Val)
NM_000051.4(ATM):c.3201C>A (p.Asp1067Glu) rs1188674152
NM_000051.4(ATM):c.3202T>A (p.Phe1068Ile) rs1255200743
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu) rs1255200743
NM_000051.4(ATM):c.3202T>G (p.Phe1068Val)
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)
NM_000051.4(ATM):c.3206C>T (p.Pro1069Leu)
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile) rs587780620
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu) rs2135571268
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile) rs2135571488
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile) rs756568555
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu) rs1555086111
NM_000051.4(ATM):c.3232C>G (p.Leu1078Val)
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr) rs1565428827
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe) rs1555086120
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.4(ATM):c.3238G>A (p.Asp1080Asn)
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del) rs2135572079
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly) rs757617016
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val) rs757617016
NM_000051.4(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.4(ATM):c.323C>T (p.Ala108Val)
NM_000051.4(ATM):c.3241A>C (p.Asn1081His) rs2081666605
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp) rs2081666605
NM_000051.4(ATM):c.3244C>G (p.His1082Asp) rs1302626569
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)
NM_000051.4(ATM):c.3245A>G (p.His1082Arg) rs1009749513
NM_000051.4(ATM):c.3248A>T (p.His1083Leu) rs2081667850
NM_000051.4(ATM):c.3249C>G (p.His1083Gln) rs1246816005
NM_000051.4(ATM):c.3251A>G (p.Gln1084Arg) rs2081668405
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile) rs1555086177
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala) rs1284116426
NM_000051.4(ATM):c.3256C>G (p.Arg1086Gly)
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.4(ATM):c.3257G>T (p.Arg1086Leu) rs769857066
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
NM_000051.4(ATM):c.325A>G (p.Asn109Asp) rs2135038523
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr) rs2135038523
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr) rs1460583900
NM_000051.4(ATM):c.3265G>C (p.Ala1089Pro) rs730881358
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val) rs2135572925
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val) rs1591610246
NM_000051.4(ATM):c.326A>G (p.Asn109Ser) rs2078893700
NM_000051.4(ATM):c.3271G>A (p.Glu1091Lys) rs2135573046
NM_000051.4(ATM):c.3273_3284+42dup rs2081670756
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu) rs774197372
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser) rs2135573226
NM_000051.4(ATM):c.327C>A (p.Asn109Lys)
NM_000051.4(ATM):c.3280A>C (p.Asn1094His) rs1591610333
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp) rs1591610333
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3284+4A>G rs1591610423
NM_000051.4(ATM):c.3284+4del rs761592860
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3285-2896_3285-2893del
NM_000051.4(ATM):c.3285-8G>C rs1469259085
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser) rs2082114508
NM_000051.4(ATM):c.328A>G (p.Arg110Gly) rs2078893781
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu) rs773964990
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly) rs587778072
NM_000051.4(ATM):c.3296A>T (p.Asp1099Val) rs587778072
NM_000051.4(ATM):c.3297C>G (p.Asp1099Glu)
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro) rs2082115524
NM_000051.4(ATM):c.3298A>G (p.Thr1100Ala) rs2082115524
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
NM_000051.4(ATM):c.3302A>C (p.Lys1101Thr)
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.4(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala) rs1555090118
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.4(ATM):c.3308A>T (p.Asp1103Val) rs1555090118
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu) rs764102178
NM_000051.4(ATM):c.330A>C (p.Arg110Ser) rs1555055350
NM_000051.4(ATM):c.331+3A>C rs2078894221
NM_000051.4(ATM):c.331+3A>T
NM_000051.4(ATM):c.331+4A>G
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys) rs1555090126
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr) rs141999815
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)
NM_000051.4(ATM):c.332-1009A>T
NM_000051.4(ATM):c.332-4A>G
NM_000051.4(ATM):c.332-8T>A rs2079233073
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe) rs2135643264
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro) rs2082117640
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val) rs1479434069
NM_000051.4(ATM):c.3331C>T (p.Leu1111Phe)
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met) rs1022672642
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser) rs1591632166
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu) rs1049900772
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro) rs1555090213
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)
NM_000051.4(ATM):c.3349_3384del (p.Gln1117_Gln1128del) rs2135643982
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg) rs755828033
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp) rs778882461
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.4(ATM):c.335C>A (p.Ala112Glu) rs1591474358
NM_000051.4(ATM):c.335C>T (p.Ala112Val) rs1591474358
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu) rs2082121277
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.4(ATM):c.3367G>A (p.Ala1123Thr) rs1060501581
NM_000051.4(ATM):c.3367G>C (p.Ala1123Pro) rs1060501581
NM_000051.4(ATM):c.3368C>A (p.Ala1123Glu) rs2135644677
NM_000051.4(ATM):c.3368C>T (p.Ala1123Val)
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His) rs2082121841
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys) rs876660498
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val) rs775277598
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu) rs1310591343
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp) rs1555090340
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala) rs1060501544
NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)
NM_000051.4(ATM):c.338C>T (p.Pro113Leu) rs876658324
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr) rs2082123790
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile) rs1565439576
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys) rs2135645575
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)
NM_000051.4(ATM):c.3398A>C (p.Glu1133Ala)
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly) rs1565439583
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.4(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.4(ATM):c.3400A>C (p.Met1134Leu) rs1591632583
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3402+17T>G
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-5_3403-4del
NM_000051.4(ATM):c.3403-6T>C rs2082201418
NM_000051.4(ATM):c.3403-6T>G rs2082201418
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr) rs2082202102
NM_000051.4(ATM):c.3408T>G (p.His1136Gln) rs1565441369
NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)
NM_000051.4(ATM):c.340A>G (p.Arg114Gly) rs927409082
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.4(ATM):c.3417G>C (p.Glu1139Asp) rs879254069
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
NM_000051.4(ATM):c.3421C>G (p.Pro1141Ala)
NM_000051.4(ATM):c.3424G>A (p.Glu1142Lys) rs2082203589
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala) rs2082203682
NM_000051.4(ATM):c.3427A>T (p.Thr1143Ser) rs1555091146
NM_000051.4(ATM):c.3428C>T (p.Thr1143Ile) rs748375410
NM_000051.4(ATM):c.342G>C (p.Arg114Ser) rs1555059036
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser) rs879253949
NM_000051.4(ATM):c.3433G>T (p.Asp1145Tyr)
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala) rs1183646267
NM_000051.4(ATM):c.3434A>G (p.Asp1145Gly) rs1183646267
NM_000051.4(ATM):c.3434A>T (p.Asp1145Val) rs1183646267
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys) rs1565441511
NM_000051.4(ATM):c.3437A>G (p.Glu1146Gly) rs1555091169
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val) rs769853739
NM_000051.4(ATM):c.343C>G (p.Leu115Val) rs1555059048
NM_000051.4(ATM):c.3445A>G (p.Asn1149Asp)
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys) rs555219189
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)
NM_000051.4(ATM):c.3454T>C (p.Ser1152Pro) rs1176188506
NM_000051.4(ATM):c.3454T>G (p.Ser1152Ala) rs1176188506
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr) rs775045299
NM_000051.4(ATM):c.3455C>G (p.Ser1152Cys) rs775045299
NM_000051.4(ATM):c.3457G>A (p.Val1153Ile) rs863224562
NM_000051.4(ATM):c.3457G>C (p.Val1153Leu) rs863224562
NM_000051.4(ATM):c.3457G>T (p.Val1153Phe) rs863224562
NM_000051.4(ATM):c.3458T>C (p.Val1153Ala) rs12788418
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser) rs2135666960
NM_000051.4(ATM):c.3469T>G (p.Leu1157Val) rs2082206791
NM_000051.4(ATM):c.346A>C (p.Lys116Gln)
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser) rs2135667225
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser) rs2135667356
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly) rs12788427
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile) rs1565441792
NM_000051.4(ATM):c.3481G>C (p.Val1161Leu) rs1565441792
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala) rs12788429
NM_000051.4(ATM):c.3490T>G (p.Cys1164Gly) rs2135667927
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr) rs2082208412
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys) rs1351059730
NM_000051.4(ATM):c.3494G>A (p.Ser1165Asn)
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile) rs2082208653
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser) rs867360777
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.34T>C (p.Cys12Arg) rs1060501597
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp) rs1555091291
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr) rs1591636761
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr) rs1555059066
NM_000051.4(ATM):c.350G>T (p.Cys117Phe) rs1555059066
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu) rs876659067
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
NM_000051.4(ATM):c.3513G>C (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3513G>T (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val) rs2082210652
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val) rs141460670
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr) rs1416574870
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro) rs587782762
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln) rs1555091359
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg) rs1565442144
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro) rs2135669484
NM_000051.4(ATM):c.3538G>A (p.Val1180Met) rs1060501531
NM_000051.4(ATM):c.353A>G (p.Gln118Arg) rs1555059070
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp) rs773290999
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu) rs2135669947
NM_000051.4(ATM):c.3552A>T (p.Gly1184=)
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val) rs2082213706
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser) rs2082213794
NM_000051.4(ATM):c.3562C>T (p.His1188Tyr) rs2082213882
NM_000051.4(ATM):c.3563A>C (p.His1188Pro) rs12786960
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
NM_000051.4(ATM):c.3575A>C (p.Lys1192Thr)
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg) rs1555091451
NM_000051.4(ATM):c.3576+3A>G rs2082214908
NM_000051.4(ATM):c.3576+4T>C rs1591637164
NM_000051.4(ATM):c.3577-3C>A rs876659700
NM_000051.4(ATM):c.3577-3C>G rs876659700
NM_000051.4(ATM):c.3577-7C>A rs558667657
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala) rs1591640918
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser) rs2082294481
NM_000051.4(ATM):c.3583G>C (p.Glu1195Gln) rs2135686630
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly) rs1167713135
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu) rs2135686751
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala) rs1555092259
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro) rs1555092260
NM_000051.4(ATM):c.3593C>G (p.Ser1198Cys)
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe) rs2135686922
NM_000051.4(ATM):c.3596A>C (p.Glu1199Ala)
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.4(ATM):c.3598A>G (p.Thr1200Ala) rs772741084
NM_000051.4(ATM):c.3599C>A (p.Thr1200Asn)
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.3601T>G (p.Phe1201Val) rs576884305
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val) rs1555092285
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly) rs2135687439
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser) rs1555092317
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe) rs786201151
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln) rs772724024
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly) rs1555092330
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly) rs2135687915
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
NM_000051.4(ATM):c.3625T>G (p.Phe1209Val)
NM_000051.4(ATM):c.3628A>C (p.Met1210Leu)
NM_000051.4(ATM):c.3628A>T (p.Met1210Leu)
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr) rs192572042
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr) rs745467552
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
NM_000051.4(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val) rs2082299514
NM_000051.4(ATM):c.3643G>C (p.Asp1215His) rs1366216756
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.4(ATM):c.364A>G (p.Asn122Asp) rs2079236749
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro) rs1555092405
NM_000051.4(ATM):c.3652G>T (p.Val1218Phe) rs2082300484
NM_000051.4(ATM):c.3657G>C (p.Leu1219Phe) rs901820882
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys) rs1565444811
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln) rs1565444811
NM_000051.4(ATM):c.3659A>G (p.Glu1220Gly)
NM_000051.4(ATM):c.365A>C (p.Asn122Thr) rs1060501596
NM_000051.4(ATM):c.365A>G (p.Asn122Ser) rs1060501596
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys) rs864622490
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg) rs863224563
NM_000051.4(ATM):c.3667A>T (p.Asn1223Tyr) rs1436681116
NM_000051.4(ATM):c.3668A>G (p.Asn1223Ser) rs2082301149
NM_000051.4(ATM):c.3668A>T (p.Asn1223Ile)
NM_000051.4(ATM):c.3669T>A (p.Asn1223Lys) rs1591641397
NM_000051.4(ATM):c.3674A>G (p.Gln1225Arg) rs2135689501
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.4(ATM):c.3676G>A (p.Asp1226Asn)
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3680C>A (p.Thr1227Asn) rs1229454563
NM_000051.4(ATM):c.3680C>G (p.Thr1227Ser)
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys) rs1334793787
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys) rs1591641518
NM_000051.4(ATM):c.3688A>G (p.Asn1230Asp) rs2082303886
NM_000051.4(ATM):c.3688A>T (p.Asn1230Tyr) rs2082303886
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile) rs587782195
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.4(ATM):c.3690C>G (p.Asn1230Lys) rs1555092475
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe) rs367603277
NM_000051.4(ATM):c.3695CTT[1] (p.Ser1233del) rs1555092499
NM_000051.4(ATM):c.3698C>T (p.Ser1233Phe)
NM_000051.4(ATM):c.3702T>G (p.Phe1234Leu) rs876659605
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del) rs1591641635
NM_000051.4(ATM):c.3704C>T (p.Pro1235Leu)
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser) rs2082306350
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3713T>C (p.Leu1238Ser)
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
NM_000051.4(ATM):c.371T>C (p.Ile124Thr) rs1555059132
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys) rs587782688
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala) rs1591641743
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys) rs1266811647
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg) rs1266811647
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile) rs730881363
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val) rs2135690906
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr) rs1159658224
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser) rs1064793581
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His) rs1180341161
NM_000051.4(ATM):c.3743A>C (p.Tyr1248Ser) rs766226370
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe) rs766226370
NM_000051.4(ATM):c.3746+3A>C
NM_000051.4(ATM):c.3746+3A>G rs2135691310
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)
NM_000051.4(ATM):c.3746G>C (p.Arg1249Thr)
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-7T>G rs1057523136
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro) rs1555093268
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr) rs1555093273
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)
NM_000051.4(ATM):c.374T>C (p.Met125Thr) rs2079237952
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr) rs1427548500
NM_000051.4(ATM):c.3752G>T (p.Cys1251Phe) rs1427548500
NM_000051.4(ATM):c.3755A>C (p.Tyr1252Ser)
NM_000051.4(ATM):c.3755A>G (p.Tyr1252Cys)
NM_000051.4(ATM):c.3755A>T (p.Tyr1252Phe) rs2135704378
NM_000051.4(ATM):c.3758A>C (p.Lys1253Thr)
NM_000051.4(ATM):c.375G>A (p.Met125Ile) rs1591474725
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile) rs753717865
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser) rs2082374257
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.4(ATM):c.3767T>G (p.Ile1256Ser)
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr) rs2079238248
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu) rs758405529
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.3772C>T (p.His1258Tyr) rs587782741
NM_000051.4(ATM):c.3773A>G (p.His1258Arg) rs1555093334
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly) rs1591645509
NM_000051.4(ATM):c.3785G>A (p.Arg1262Lys) rs786203618
NM_000051.4(ATM):c.3785G>C (p.Arg1262Thr) rs786203618
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3787A>G (p.Ser1263Gly) rs1276194109
NM_000051.4(ATM):c.3788G>T (p.Ser1263Ile) rs2082376058
NM_000051.4(ATM):c.3790C>A (p.His1264Asn) rs2135705273
NM_000051.4(ATM):c.3790C>T (p.His1264Tyr)
NM_000051.4(ATM):c.3791A>C (p.His1264Pro)
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val) rs371526361
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser) rs1565447114
NM_000051.4(ATM):c.3795T>G (p.Phe1265Leu)
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn) rs2135705400
NM_000051.4(ATM):c.3796G>C (p.Asp1266His) rs2135705400
NM_000051.4(ATM):c.379A>G (p.Thr127Ala) rs587781741
NM_000051.4(ATM):c.37C>A (p.Arg13Ser) rs141586345
NM_000051.4(ATM):c.37C>G (p.Arg13Gly) rs141586345
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val) rs781357995
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala) rs1269513731
NM_000051.4(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr) rs1308232635
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp) rs2082377659
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu)
NM_000051.4(ATM):c.3821A>G (p.Gln1274Arg) rs1060501624
NM_000051.4(ATM):c.3821_3822delinsTA (p.Gln1274Leu) rs1591645650
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro) rs770183693
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln) rs1591645689
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.382G>C (p.Val128Leu) rs587779835
NM_000051.4(ATM):c.382G>T (p.Val128Leu)
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly) rs1555093463
NM_000051.4(ATM):c.3832G>C (p.Asp1278His) rs730881365
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.4(ATM):c.3835T>C (p.Trp1279Arg)
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg) rs2082379727
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val) rs876660568
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala) rs879175186
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg) rs1200767902
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly) rs2082381245
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser) rs876660770
NM_000051.4(ATM):c.385A>C (p.Lys129Gln) rs2079239070
NM_000051.4(ATM):c.3863C>T (p.Pro1288Leu) rs2135707043
NM_000051.4(ATM):c.3865A>C (p.Lys1289Gln)
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe) rs2082381917
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)
NM_000051.4(ATM):c.386A>G (p.Lys129Arg) rs2135122598
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val) rs2135707210
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu) rs878853506
NM_000051.4(ATM):c.3877A>C (p.Asn1293His) rs2135707323
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup) rs1591645970
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val) rs1478504213
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val) rs1388457632
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro) rs2082382999
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys) rs1591646047
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val) rs786203287
NM_000051.4(ATM):c.3898T>A (p.Tyr1300Asn)
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His) rs1591646097
NM_000051.4(ATM):c.3899A>T (p.Tyr1300Phe) rs183263185
NM_000051.4(ATM):c.38G>T (p.Arg13Leu) rs778201041
NM_000051.4(ATM):c.3903G>C (p.Glu1301Asp) rs2082384273
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser) rs2135707999
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val) rs761673223
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
NM_000051.4(ATM):c.390T>A (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.390T>G (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly) rs1565447611
NM_000051.4(ATM):c.3917G>A (p.Ser1306Asn)
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu) rs2082385270
NM_000051.4(ATM):c.3923T>C (p.Met1308Thr) rs1555093651
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro) rs149711770
NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg)
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro) rs2135708785
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser) rs1064794757
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala) rs1555093708
NM_000051.4(ATM):c.3947C>T (p.Thr1316Ile) rs2135709186
NM_000051.4(ATM):c.3949A>C (p.Lys1317Gln) rs2082387020
NM_000051.4(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.4(ATM):c.3958_3960del (p.Asp1320del)
NM_000051.4(ATM):c.3959A>G (p.Asp1320Gly)
NM_000051.4(ATM):c.3959A>T (p.Asp1320Val) rs2135709499
NM_000051.4(ATM):c.395C>A (p.Ser132Tyr) rs750969764
NM_000051.4(ATM):c.395C>G (p.Ser132Cys) rs750969764
NM_000051.4(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr) rs928038643
NM_000051.4(ATM):c.3963_3964delinsAA (p.Met1321_Leu1322delinsIleIle)
NM_000051.4(ATM):c.3964C>G (p.Leu1322Val)
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe) rs144535256
NM_000051.4(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg) rs786203306
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg) rs1295515377
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg) rs2082388757
NM_000051.4(ATM):c.3971G>A (p.Ser1324Asn)
NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.4(ATM):c.397A>G (p.Asn133Asp) rs1565356855
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3984G>C (p.Leu1328Phe)
NM_000051.4(ATM):c.3989A>G (p.Lys1330Arg) rs1565447970
NM_000051.4(ATM):c.398A>G (p.Asn133Ser) rs730881330
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+16T>G rs2135710569
NM_000051.4(ATM):c.3993+19T>G
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.3993+6G>A rs878853508
NM_000051.4(ATM):c.3993G>A (p.Gln1331=) rs863224566
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-3C>A rs1060501681
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu) rs1064793534
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn) rs1591655512
NM_000051.4(ATM):c.3998A>G (p.Asp1333Gly)
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val) rs863224568
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.4(ATM):c.4010T>C (p.Ile1337Thr) rs1060501660
NM_000051.4(ATM):c.4010T>G (p.Ile1337Ser) rs1060501660
NM_000051.4(ATM):c.4013G>A (p.Ser1338Asn) rs1302951937
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys) rs863224569
NM_000051.4(ATM):c.401G>T (p.Gly134Val) rs771166271
NM_000051.4(ATM):c.4020A>C (p.Leu1340Phe)
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.4(ATM):c.4033G>A (p.Val1345Met) rs1216931701
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.403G>T (p.Ala135Ser) rs1272089657
NM_000051.4(ATM):c.4045A>G (p.Met1349Val) rs2082561329
NM_000051.4(ATM):c.4046T>A (p.Met1349Lys) rs2082561438
NM_000051.4(ATM):c.4047G>A (p.Met1349Ile) rs1555095931
NM_000051.4(ATM):c.4047G>T (p.Met1349Ile) rs1555095931
NM_000051.4(ATM):c.404C>G (p.Ala135Gly) rs1555059254
NM_000051.4(ATM):c.404C>T (p.Ala135Val) rs1555059254
NM_000051.4(ATM):c.4054C>T (p.His1352Tyr) rs1591655903
NM_000051.4(ATM):c.4055A>T (p.His1352Leu) rs925124248
NM_000051.4(ATM):c.4057G>A (p.Glu1353Lys) rs2135736601
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.4(ATM):c.4060C>T (p.Pro1354Ser)
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln) rs1565452743
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu) rs1591655990
NM_000051.4(ATM):c.4064C>G (p.Ala1355Gly)
NM_000051.4(ATM):c.4064C>T (p.Ala1355Val) rs1591655990
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr) rs2135736874
NM_000051.4(ATM):c.4069T>A (p.Ser1357Thr) rs2082563881
NM_000051.4(ATM):c.406A>G (p.Ile136Val) rs780941782
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr) rs730881390
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4072A>T (p.Ser1358Cys)
NM_000051.4(ATM):c.4073G>C (p.Ser1358Thr) rs2135737014
NM_000051.4(ATM):c.4075G>A (p.Ala1359Thr) rs1591656042
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp) rs1565452823
NM_000051.4(ATM):c.4078A>G (p.Ser1360Gly) rs761123780
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys) rs761123780
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg) rs2135737207
NM_000051.4(ATM):c.4083G>T (p.Gln1361His) rs863224570
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.4(ATM):c.4088C>G (p.Thr1363Ser) rs1555096040
NM_000051.4(ATM):c.4091A>C (p.Asp1364Ala) rs751169467
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu) rs876660956
NM_000051.4(ATM):c.4093C>A (p.Leu1365Ile)
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe) rs1423720712
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp) rs786204177
NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)
NM_000051.4(ATM):c.4101C>G (p.Asp1367Glu)
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu) rs569614591
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTACATTTTA rs2135738255
NM_000051.4(ATM):c.4109+16A>G rs2135738603
NM_000051.4(ATM):c.4109+3A>G rs1388807238
NM_000051.4(ATM):c.4109+4T>G rs754706599
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4109+6T>G rs368606937
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe) rs547082881
NM_000051.4(ATM):c.4110-10A>G rs2082636753
NM_000051.4(ATM):c.4110-3T>C
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4110G>C (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4111G>T (p.Asp1371Tyr)
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4117G>T (p.Asp1373Tyr)
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr) rs2135750720
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala) rs863224571
NM_000051.4(ATM):c.4126C>T (p.Pro1376Ser)
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.4(ATM):c.4129A>C (p.Asn1377His) rs2082639157
NM_000051.4(ATM):c.4129A>T (p.Asn1377Tyr) rs2082639157
NM_000051.4(ATM):c.412G>C (p.Gly138Arg) rs150661813
NM_000051.4(ATM):c.4130A>C (p.Asn1377Thr) rs1565454896
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4132C>A (p.Pro1378Thr) rs1555096817
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala) rs1555096817
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr) rs1555096828
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
NM_000051.4(ATM):c.4139A>G (p.His1380Arg) rs2082640431
NM_000051.4(ATM):c.413G>C (p.Gly138Ala) rs2135123439
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu) rs1555096841
NM_000051.4(ATM):c.4142T>C (p.Phe1381Ser)
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu) rs2082640762
NM_000051.4(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr) rs876660576
NM_000051.4(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met) rs879254026
NM_000051.4(ATM):c.415G>T (p.Ala139Ser) rs1555059288
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr) rs1555096903
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro) rs1555096903
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser) rs1555096903
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala) rs1591660534
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile) rs2082642834
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del) rs2135752050
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr) rs2135752151
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp) rs1591660560
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys) rs876658239
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe) rs876658239
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu) rs1565455097
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.4(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.4(ATM):c.4192A>G (p.Lys1398Glu)
NM_000051.4(ATM):c.4194A>T (p.Lys1398Asn) rs1565455145
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala) rs1555096955
NM_000051.4(ATM):c.4195A>T (p.Thr1399Ser) rs1555096955
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4196C>T (p.Thr1399Ile) rs786203761
NM_000051.4(ATM):c.41A>G (p.Gln14Arg) rs749776879
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn) rs2135753163
NM_000051.4(ATM):c.4208G>C (p.Ser1403Thr)
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg) rs876658701
NM_000051.4(ATM):c.420T>A (p.Asp140Glu) rs1591475108
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val) rs1382006540
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg) rs2082647905
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.4(ATM):c.4232G>C (p.Ser1411Thr) rs2135753735
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser) rs1591660899
NM_000051.4(ATM):c.4236+2_4236+3insCT rs1185729358
NM_000051.4(ATM):c.4236+5G>A rs1441281768
NM_000051.4(ATM):c.4236T>G (p.Pro1412=) rs1326629661
NM_000051.4(ATM):c.4237-7_4237-5del
NM_000051.4(ATM):c.4237-8T>G rs750427647
NM_000051.4(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr) rs1555097395
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.4(ATM):c.4264A>T (p.Ile1422Leu) rs562445932
NM_000051.4(ATM):c.4265T>A (p.Ile1422Lys)
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.4(ATM):c.4266A>G (p.Ile1422Met) rs768794637
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg) rs2082671727
NM_000051.4(ATM):c.4279G>C (p.Ala1427Pro)
NM_000051.4(ATM):c.4279G>T (p.Ala1427Ser)
NM_000051.4(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys) rs1369272813
NM_000051.4(ATM):c.4287A>G (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.428A>G (p.Asn143Ser) rs1565357066
NM_000051.4(ATM):c.4291A>C (p.Asn1431His) rs748144169
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser) rs201356803
NM_000051.4(ATM):c.4294G>A (p.Val1432Ile)
NM_000051.4(ATM):c.4295T>G (p.Val1432Gly) rs1131691150
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.4(ATM):c.4298A>G (p.Tyr1433Cys)
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
NM_000051.4(ATM):c.4302G>C (p.Lys1434Asn) rs876658751
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.4(ATM):c.430A>G (p.Ile144Val) rs1555059323
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys) rs1227046364
NM_000051.4(ATM):c.4310G>C (p.Arg1437Thr)
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
NM_000051.4(ATM):c.4316T>A (p.Leu1439His) rs1591663032
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro) rs1591663032
NM_000051.4(ATM):c.431T>G (p.Ile144Arg) rs2135124131
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn) rs2082675235
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr) rs1469317936
NM_000051.4(ATM):c.4322T>G (p.Ile1441Arg)
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys) rs1565456320
NM_000051.4(ATM):c.4325A>T (p.Tyr1442Phe)
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr) rs1555097538
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup) rs2135124161
NM_000051.4(ATM):c.4330C>G (p.Leu1444Val)
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln) rs2082676298
NM_000051.4(ATM):c.4331T>C (p.Leu1444Pro)
NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup) rs1060501663
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.4(ATM):c.4334T>C (p.Phe1445Ser)
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)
NM_000051.4(ATM):c.4336G>A (p.Val1446Ile) rs1060501658
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe) rs1060501658
NM_000051.4(ATM):c.4337T>A (p.Val1446Asp) rs1591663249
NM_000051.4(ATM):c.4339A>C (p.Ser1447Arg)
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg) rs1565456454
NM_000051.4(ATM):c.4342TTA[3] (p.Leu1450_Lys1451insLeu)
NM_000051.4(ATM):c.4345T>G (p.Leu1449Val) rs786201555
NM_000051.4(ATM):c.4346T>C (p.Leu1449Ser) rs2082678060
NM_000051.4(ATM):c.4347A>C (p.Leu1449Phe) rs764787081
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro) rs750306932
NM_000051.4(ATM):c.434T>A (p.Leu145Gln) rs1555059346
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.4354G>A (p.Asp1452Asn)
NM_000051.4(ATM):c.4354G>C (p.Asp1452His) rs1012695949
NM_000051.4(ATM):c.4354G>T (p.Asp1452Tyr) rs1012695949
NM_000051.4(ATM):c.4355A>T (p.Asp1452Val) rs1565456579
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4359A>G (p.Ile1453Met) rs1213190389
NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr) rs2082679943
NM_000051.4(ATM):c.4366G>A (p.Gly1456Ser) rs1591663544
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp) rs894398811
NM_000051.4(ATM):c.436C>T (p.Leu146Phe) rs2135124363
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg) rs2135764207
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly) rs376165779
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn) rs1555059356
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp) rs2082682300
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala) rs2082682300
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del) rs2082682405
NM_000051.4(ATM):c.4394T>A (p.Leu1465His) rs730881391
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro) rs749770110
NM_000051.4(ATM):c.4397G>T (p.Arg1466Leu)
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4400_4405dup (p.Val1468_Ile1469insAsnVal) rs2082683548
NM_000051.4(ATM):c.4408T>G (p.Tyr1470Asp)
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys) rs1591663898
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser) rs772555314
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met) rs2082685196
NM_000051.4(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.4(ATM):c.4421A>G (p.His1474Arg) rs2082685461
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val) rs1565457035
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met) rs876659370
NM_000051.4(ATM):c.442G>C (p.Asp148His) rs2135124628
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu) rs2082686442
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly) rs2082686702
NM_000051.4(ATM):c.4436+3A>G rs2082686950
NM_000051.4(ATM):c.4436+3A>T rs2082686950
NM_000051.4(ATM):c.4436+6T>C rs2082687309
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4437-8T>G rs765929660
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser) rs2082856332
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro) rs2135797205
NM_000051.4(ATM):c.4445G>T (p.Cys1482Phe)
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe) rs1281685502
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu) rs2135797458
NM_000051.4(ATM):c.4451T>A (p.Met1484Lys)
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.4(ATM):c.4454A>C (p.Asp1485Ala) rs1555099762
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly) rs1555099762
NM_000051.4(ATM):c.4456G>A (p.Val1486Met) rs786203352
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.445A>G (p.Ile149Val) rs1565357194
NM_000051.4(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu) rs201594549
NM_000051.4(ATM):c.4469G>A (p.Ser1490Asn) rs2135798205
NM_000051.4(ATM):c.446T>A (p.Ile149Asn) rs587782353
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val) rs377595814
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser) rs1060501576
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe) rs878853510
NM_000051.4(ATM):c.4487A>G (p.Asp1496Gly)
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del) rs1555099818
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
NM_000051.4(ATM):c.448C>T (p.Leu150Phe) rs1555059404
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser) rs1329359780
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe) rs1064793476
NM_000051.4(ATM):c.4495A>C (p.Ser1499Arg) rs2135799018
NM_000051.4(ATM):c.4496G>C (p.Ser1499Thr) rs1222314846
NM_000051.4(ATM):c.4499A>C (p.Gln1500Pro) rs786203789
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.4(ATM):c.449T>C (p.Leu150Pro) rs2079244605
NM_000051.4(ATM):c.44T>A (p.Leu15Gln) rs1555053927
NM_000051.4(ATM):c.44T>G (p.Leu15Arg) rs1555053927
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.4(ATM):c.4503T>C (p.Val1501=) rs2082863480
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr) rs759340881
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg) rs1555099858
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile) rs1060501638
NM_000051.4(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.4(ATM):c.4516G>C (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4517T>A (p.Val1506Glu) rs1555099878
NM_000051.4(ATM):c.451T>C (p.Ser151Pro) rs1565357241
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg) rs1064795574
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr) rs2082866294
NM_000051.4(ATM):c.452C>G (p.Ser151Cys) rs1565357249
NM_000051.4(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn) rs2135800277
NM_000051.4(ATM):c.4531G>C (p.Asp1511His) rs2135800277
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val) rs1591674356
NM_000051.4(ATM):c.4533T>A (p.Asp1511Glu)
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val) rs1591674385
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val) rs2082867393
NM_000051.4(ATM):c.4540G>A (p.Glu1514Lys)
NM_000051.4(ATM):c.4543A>G (p.Asn1515Asp)
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr) rs1565461414
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser) rs1565461414
NM_000051.4(ATM):c.4546C>A (p.His1516Asn) rs1389372050
NM_000051.4(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.4(ATM):c.4547A>T (p.His1516Leu)
NM_000051.4(ATM):c.4552C>A (p.His1518Asn) rs2135800970
NM_000051.4(ATM):c.4553A>G (p.His1518Arg) rs762132832
NM_000051.4(ATM):c.4555G>A (p.Val1519Ile) rs969120822
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu) rs969120822
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu) rs765195241
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile) rs141329176
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala) rs786202673
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg) rs1064795495
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val) rs1555099954
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile) rs1555099959
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile) rs780603110
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val) rs780603110
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.4(ATM):c.4571T>A (p.Leu1524His) rs1555099971
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met) rs781539071
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala) rs748898098
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu) rs770590652
NM_000051.4(ATM):c.4577_4578delinsTT (p.Pro1526Leu) rs1591674732
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.4(ATM):c.4579C>T (p.Leu1527Phe) rs1555099997
NM_000051.4(ATM):c.457A>G (p.Arg153Gly) rs1555059438
NM_000051.4(ATM):c.4585T>C (p.Tyr1529His)
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys) rs1365089723
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala) rs2082872800
NM_000051.4(ATM):c.4594G>A (p.Val1532Met) rs2135802444
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe) rs745351684
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4605G>C (p.Gln1535His)
NM_000051.4(ATM):c.4610A>G (p.Gln1537Arg) rs1064794041
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu) rs1064794041
NM_000051.4(ATM):c.4611+3A>C rs2082874444
NM_000051.4(ATM):c.4611+3A>G rs2082874444
NM_000051.4(ATM):c.4611+4A>G rs1591674933
NM_000051.4(ATM):c.4611+6T>C rs1555100047
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn) rs778622948
NM_000051.4(ATM):c.4618G>C (p.Asp1540His) rs778622948
NM_000051.4(ATM):c.4621T>G (p.Leu1541Val)
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe) rs3092849
NM_000051.4(ATM):c.4636G>A (p.Val1546Met) rs1305696123
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del) rs2135810241
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.4(ATM):c.4642_4643inv (p.Asp1548Ser)
NM_000051.4(ATM):c.4643A>G (p.Asp1548Gly)
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys) rs1300874775
NM_000051.4(ATM):c.4649A>G (p.Lys1550Arg)
NM_000051.4(ATM):c.4650G>T (p.Lys1550Asn) rs876660003
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly) rs1555100455
NM_000051.4(ATM):c.4653T>A (p.Asp1551Glu)
NM_000051.4(ATM):c.4655A>G (p.Asn1552Ser) rs2135810797
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del) rs2079245695
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe) rs1555100478
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro) rs1060501524
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser) rs587782037
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val) rs2135811264
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn) rs2082917922
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met) rs966733287
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys) rs587781712
NM_000051.4(ATM):c.4676T>G (p.Ile1559Ser)
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln) rs767981230
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn) rs2135811674
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val) rs1591677342
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe) rs1591677342
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro) rs2135811719
NM_000051.4(ATM):c.4687G>C (p.Asp1563His) rs1464587365
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr) rs1490905322
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu) rs1064793971
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala) rs1555100549
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
NM_000051.4(ATM):c.4720T>G (p.Leu1574Val)
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser) rs1408892416
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly) rs1408892416
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys) rs1408892416
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val) rs2082921955
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile) rs2135812963
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg) rs2082922811
NM_000051.4(ATM):c.4736A>C (p.Gln1579Pro)
NM_000051.4(ATM):c.4738A>G (p.Lys1580Glu) rs1591677635
NM_000051.4(ATM):c.4740A>C (p.Lys1580Asn) rs2082923397
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val) rs1565463271
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met) rs1591677662
NM_000051.4(ATM):c.4750A>G (p.Ser1584Gly)
NM_000051.4(ATM):c.4751G>A (p.Ser1584Asn) rs1591677692
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile) rs1591677692
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
NM_000051.4(ATM):c.475A>C (p.Ile159Leu) rs1565357315
NM_000051.4(ATM):c.4760C>A (p.Pro1587His) rs748044422
NM_000051.4(ATM):c.4762T>C (p.Phe1588Leu) rs2082925146
NM_000051.4(ATM):c.4766C>T (p.Ser1589Leu) rs2082925270
NM_000051.4(ATM):c.4769T>G (p.Leu1590Arg)
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp) rs1565463381
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala) rs1565463405
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+4A>G rs1591677924
NM_000051.4(ATM):c.4776+6A>C rs1348555180
NM_000051.4(ATM):c.4776G>A (p.Glu1592=) rs786202973
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.4(ATM):c.4777-4_4777-3del rs2083032760
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4777-7_4777-6del rs1064794458
NM_000051.4(ATM):c.477A>G (p.Ile159Met) rs786202644
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr) rs1555101621
NM_000051.4(ATM):c.4782T>G (p.Ile1594Met) rs2135833642
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys) rs2135833730
NM_000051.4(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys) rs2083034224
NM_000051.4(ATM):c.4798G>A (p.Val1600Ile) rs2135834139
NM_000051.4(ATM):c.4798G>T (p.Val1600Leu) rs2135834139
NM_000051.4(ATM):c.4799T>A (p.Val1600Glu) rs1591684386
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala) rs1591684386
NM_000051.4(ATM):c.479C>T (p.Ser160Phe) rs35858242
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr) rs587782506
NM_000051.4(ATM):c.4804G>T (p.Val1602Phe)
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.4(ATM):c.4807T>G (p.Tyr1603Asp) rs994121421
NM_000051.4(ATM):c.480_482dup (p.Ser160_Gln161insHis)
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly) rs1591684476
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr) rs1555101706
NM_000051.4(ATM):c.4814C>A (p.Ala1605Glu)
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe) rs746103632
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr) rs1178015475
NM_000051.4(ATM):c.4819C>G (p.Pro1607Ala)
NM_000051.4(ATM):c.481C>G (p.Gln161Glu)
NM_000051.4(ATM):c.4820C>G (p.Pro1607Arg) rs864622462
NM_000051.4(ATM):c.4820C>T (p.Pro1607Leu) rs864622462
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala) rs761197886
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.482A>G (p.Gln161Arg) rs587780625
NM_000051.4(ATM):c.4831C>T (p.Leu1611Phe) rs1026156596
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala) rs2083038889
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val) rs2083038889
NM_000051.4(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.4(ATM):c.483G>T (p.Gln161His) rs864622742
NM_000051.4(ATM):c.4843A>G (p.Lys1615Glu)
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr) rs867309383
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.4(ATM):c.4847A>T (p.Asp1616Val) rs1591684782
NM_000051.4(ATM):c.4848T>A (p.Asp1616Glu) rs2083040302
NM_000051.4(ATM):c.4850T>C (p.Leu1617Pro) rs2083040595
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly) rs762083530
NM_000051.4(ATM):c.4853G>T (p.Arg1618Leu) rs765759912
NM_000051.4(ATM):c.4855A>G (p.Arg1619Gly) rs1555101835
NM_000051.4(ATM):c.485A>G (p.Gln162Arg) rs1285593159
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln) rs1555101864
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln) rs2083042425
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly) rs1555101872
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4870C>A (p.His1624Asn) rs1591684971
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg) rs1591685009
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys) rs886039592
NM_000051.4(ATM):c.4879C>G (p.Gln1627Glu)
NM_000051.4(ATM):c.487C>G (p.Gln163Glu) rs1591475608
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg) rs786203857
NM_000051.4(ATM):c.4882A>G (p.Met1628Val) rs1591685091
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu) rs1591685091
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile) rs2083044750
NM_000051.4(ATM):c.4885G>A (p.Val1629Met) rs876660748
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe) rs2135837721
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser) rs1060501674
NM_000051.4(ATM):c.4894A>G (p.Met1632Val) rs1060501709
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly) rs1591685231
NM_000051.4(ATM):c.489G>C (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.489G>T (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del) rs2135838090
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr) rs2083047150
NM_000051.4(ATM):c.4906C>G (p.Gln1636Glu)
NM_000051.4(ATM):c.4909+4C>G
NM_000051.4(ATM):c.4909+5T>C rs2083048367
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.4(ATM):c.490T>C (p.Trp164Arg) rs1060501699
NM_000051.4(ATM):c.4910-10T>G rs2083173059
NM_000051.4(ATM):c.4910-11A>T
NM_000051.4(ATM):c.4910-16_4910-5delinsTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGATTATCTAGAAATAATTTTTTAAAAATTAGTTTAAA
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTATTTCTAG
NM_000051.4(ATM):c.4910-6T>G rs878853513
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr) rs1565469722
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser) rs1565469722
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg) rs752459491
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg) rs1555103190
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg) rs2135861446
NM_000051.4(ATM):c.4925G>A (p.Gly1642Glu)
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
NM_000051.4(ATM):c.492G>T (p.Trp164Cys) rs1555059530
NM_000051.4(ATM):c.4930A>G (p.Met1644Val) rs1591692514
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu) rs757381170
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu) rs757381170
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln) rs2135861949
NM_000051.4(ATM):c.493T>A (p.Leu165Ile) rs878853514
NM_000051.4(ATM):c.493T>G (p.Leu165Val) rs878853514
NM_000051.4(ATM):c.4940T>A (p.Leu1647Gln)
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala) rs997081415
NM_000051.4(ATM):c.4944_4946del (p.Val1649del) rs2135862163
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp) rs2135862254
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.4(ATM):c.4951T>A (p.Leu1651Met)
NM_000051.4(ATM):c.4952T>C (p.Leu1651Ser) rs1555103237
NM_000051.4(ATM):c.4952T>G (p.Leu1651Trp) rs1555103237
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe) rs786201297
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu) rs1565469955
NM_000051.4(ATM):c.496+4T>A
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser) rs587781679
NM_000051.4(ATM):c.4963T>G (p.Ser1655Ala) rs1376280581
NM_000051.4(ATM):c.4964C>T (p.Ser1655Phe) rs786201215
NM_000051.4(ATM):c.4966A>G (p.Lys1656Glu) rs1565470010
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg) rs2083179153
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.4969A>G (p.Met1657Val) rs1060501656
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.496G>A (p.Glu166Lys) rs1565357473
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.497-5T>A
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser) rs372679141
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.4(ATM):c.4978A>C (p.Asn1660His)
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile) rs2083180093
NM_000051.4(ATM):c.497A>G (p.Glu166Gly) rs863224573
NM_000051.4(ATM):c.497A>T (p.Glu166Val) rs863224573
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.4981C>A (p.His1661Asn) rs1591692950
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr)
NM_000051.4(ATM):c.4984A>G (p.Thr1662Ala)
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn) rs1591692969
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile) rs1591692969
NM_000051.4(ATM):c.4986T>A (p.Thr1662=) rs2083180883
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser) rs1346404008
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)
NM_000051.4(ATM):c.4988G>A (p.Gly1663Asp)
NM_000051.4(ATM):c.498A>C (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.4990G>A (p.Glu1664Lys) rs1555103301
NM_000051.4(ATM):c.4990G>C (p.Glu1664Gln) rs1555103301
NM_000051.4(ATM):c.4991A>G (p.Glu1664Gly) rs2083181675
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile) rs780137734
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu) rs780137734
NM_000051.4(ATM):c.4A>G (p.Ser2Gly) rs1591445677
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly) rs2135864002
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile) rs747317946
NM_000051.4(ATM):c.5004A>G (p.Leu1668=) rs768565424
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5006-5T>A rs1555104475
NM_000051.4(ATM):c.5006-5T>G
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp) rs2135887789
NM_000051.4(ATM):c.5008G>T (p.Ala1670Ser)
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile) rs1057523385
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala) rs1361913028
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.501_503del (p.Leu167del) rs1555066242
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.4(ATM):c.5021G>A (p.Cys1674Tyr) rs1555104518
NM_000051.4(ATM):c.5021G>T (p.Cys1674Phe) rs1555104518
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp) rs2083319473
NM_000051.4(ATM):c.5024T>C (p.Leu1675Ser)
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del) rs1555104529
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del) rs2135888605
NM_000051.4(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.4(ATM):c.5031A>C (p.Glu1677Asp) rs2083320477
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu) rs878853516
NM_000051.4(ATM):c.5033T>G (p.Val1678Gly) rs878853516
NM_000051.4(ATM):c.5034_5035delinsTC (p.Gly1679Arg) rs2083321272
NM_000051.4(ATM):c.5035G>A (p.Gly1679Ser)
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val) rs1064794124
NM_000051.4(ATM):c.5038C>G (p.Pro1680Ala) rs1565473572
NM_000051.4(ATM):c.5039C>G (p.Pro1680Arg) rs587782153
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.4(ATM):c.5042T>G (p.Ile1681Arg) rs1307715383
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met) rs2083322309
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn) rs121434217
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.4(ATM):c.5045A>T (p.Asp1682Val) rs980731959
NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr) rs2083322735
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr) rs1591702098
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys) rs1565473651
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe) rs1565473651
NM_000051.4(ATM):c.5053A>C (p.Thr1685Pro) rs879254205
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5053A>T (p.Thr1685Ser)
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr) rs1555104597
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del) rs2135221888
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly) rs1591702201
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg) rs199836342
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg) rs1555104616
NM_000051.4(ATM):c.5068C>G (p.His1690Asp) rs1591702291
NM_000051.4(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly) rs1800059
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu) rs2083326508
NM_000051.4(ATM):c.5077G>C (p.Asp1693His) rs1591702362
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val) rs1591702387
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly) rs587782551
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val) rs587782551
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys) rs1555104673
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe) rs1555104673
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro) rs142455912
NM_000051.4(ATM):c.508G>A (p.Val170Met) rs786202781
NM_000051.4(ATM):c.508G>C (p.Val170Leu)
NM_000051.4(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.4(ATM):c.5092A>G (p.Lys1698Glu)
NM_000051.4(ATM):c.5093A>G (p.Lys1698Arg)
NM_000051.4(ATM):c.5093A>T (p.Lys1698Met) rs1591702557
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe) rs2135890776
NM_000051.4(ATM):c.5099T>G (p.Leu1700Arg) rs2135890816
NM_000051.4(ATM):c.50A>C (p.His17Pro)
NM_000051.4(ATM):c.50A>G (p.His17Arg) rs1242444722
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu) rs746220021
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr) rs2083330722
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu) rs1591702635
NM_000051.4(ATM):c.5107T>G (p.Phe1703Val)
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly) rs2083331490
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn) rs1565474013
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly) rs2083331705
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu) rs1291151519
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys) rs1565474056
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.4(ATM):c.5127G>C (p.Gln1709His) rs1057521839
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.4(ATM):c.5131A>G (p.Thr1711Ala)
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile) rs1291016764
NM_000051.4(ATM):c.5134T>C (p.Phe1712Leu) rs2135891932
NM_000051.4(ATM):c.5134_5136del (p.Phe1712del) rs2135891905
NM_000051.4(ATM):c.5137A>G (p.Ile1713Val)
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg) rs1591702873
NM_000051.4(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.4(ATM):c.514T>G (p.Phe172Val)
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp) rs2083336312
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp) rs2135892784
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
NM_000051.4(ATM):c.5165T>C (p.Leu1722Pro)
NM_000051.4(ATM):c.5166_5168dup (p.Val1723_Glu1724insVal)
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile) rs1565474312
NM_000051.4(ATM):c.5167G>C (p.Val1723Leu)
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala) rs915337829
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly) rs2135893191
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr) rs1555104799
NM_000051.4(ATM):c.5177+3_5177+6del
NM_000051.4(ATM):c.5177+4A>C rs2083338902
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5177+5G>T rs759373136
NM_000051.4(ATM):c.5177+6T>A rs1555104814
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe) rs2083338412
NM_000051.4(ATM):c.5178-10T>G rs1565476613
NM_000051.4(ATM):c.5178-11_5178-9del
NM_000051.4(ATM):c.5178-14A>G
NM_000051.4(ATM):c.5178-3del rs1555105575
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5189G>C (p.Arg1730Pro)
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.518G>C (p.Arg173Thr)
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del) rs2135912045
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.4(ATM):c.5194G>T (p.Ala1732Ser)
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
NM_000051.4(ATM):c.519G>A (p.Arg173=)
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile) rs1555105650
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr) rs1172318140
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp) rs1591708558
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu) rs1358200819
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe) rs1591708658
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser) rs758924620
NM_000051.4(ATM):c.5231A>G (p.Lys1744Arg)
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn) rs2083440178
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val) rs879254135
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
NM_000051.4(ATM):c.5239C>T (p.His1747Tyr)
NM_000051.4(ATM):c.523T>A (p.Tyr175Asn) rs2079697425
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.4(ATM):c.5242A>G (p.Ser1748Gly)
NM_000051.4(ATM):c.5243G>T (p.Ser1748Ile)
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg) rs2083440966
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser) rs1591708790
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg)
NM_000051.4(ATM):c.5249G>T (p.Trp1750Leu) rs1060501669
NM_000051.4(ATM):c.524A>G (p.Tyr175Cys)
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.4(ATM):c.5253G>T (p.Glu1751Asp) rs1370155496
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr) rs2083441818
NM_000051.4(ATM):c.5257T>G (p.Tyr1753Asp)
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5261A>G (p.Lys1754Arg)
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys) rs1555105739
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile) rs1060501556
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle) rs2083442751
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro) rs1591708923
NM_000051.4(ATM):c.526C>A (p.Leu176Met) rs375798802
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile) rs587781575
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu) rs1565477222
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu) rs151327241
NM_000051.4(ATM):c.5279T>A (p.Met1760Lys)
NM_000051.4(ATM):c.5279T>C (p.Met1760Thr)
NM_000051.4(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val) rs2083443935
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly) rs1272524343
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys) rs1555105780
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val) rs2083444552
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg) rs2135915061
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.4(ATM):c.52G>A (p.Asp18Asn) rs2078809121
NM_000051.4(ATM):c.52G>C (p.Asp18His)
NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)
NM_000051.4(ATM):c.52_54dup (p.Asp18dup) rs2135005981
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser) rs864622125
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.4(ATM):c.5306C>T (p.Thr1769Ile)
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg) rs2135915965
NM_000051.4(ATM):c.5319+11T>G
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5319+3_5319+5del
NM_000051.4(ATM):c.5319+4T>A rs1170957197
NM_000051.4(ATM):c.5319+4T>C rs1170957197
NM_000051.4(ATM):c.5319+5C>T rs1565477462
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn) rs2083446824
NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)
NM_000051.4(ATM):c.5320-3T>C rs1346691984
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys) rs1555106321
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val) rs2083497029
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser) rs1279041730
NM_000051.4(ATM):c.5333C>T (p.Pro1778Leu)
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser) rs369351803
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr) rs2083497990
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys) rs2083497990
NM_000051.4(ATM):c.533C>T (p.Pro178Leu) rs1591499842
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu) rs1591712154
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn) rs1555106345
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys) rs2083498434
NM_000051.4(ATM):c.5350A>G (p.Asn1784Asp)
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.4(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val) rs2135927977
NM_000051.4(ATM):c.5368G>C (p.Asp1790His) rs876658890
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.536C>T (p.Ser179Leu) rs2079698324
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg) rs776309355
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met) rs1287734608
NM_000051.4(ATM):c.5377A>C (p.Asn1793His) rs730881374
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val) rs1591712398
NM_000051.4(ATM):c.5381T>G (p.Leu1794Arg)
NM_000051.4(ATM):c.5386A>G (p.Ile1796Val)
NM_000051.4(ATM):c.5389C>A (p.Pro1797Thr)
NM_000051.4(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.4(ATM):c.5390C>T (p.Pro1797Leu) rs2135928610
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly) rs2083501896
NM_000051.4(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.4(ATM):c.539A>T (p.Gln180Leu) rs730881334
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp) rs2135928904
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr) rs2083502328
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.5404C>T (p.His1802Tyr) rs2083502587
NM_000051.4(ATM):c.5405A>G (p.His1802Arg) rs878853521
NM_000051.4(ATM):c.5405A>T (p.His1802Leu) rs878853521
NM_000051.4(ATM):c.5407G>C (p.Asp1803His) rs2083502901
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val) rs2135929138
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu) rs1591712583
NM_000051.4(ATM):c.541G>A (p.Asp181Asn) rs2079698928
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del) rs2083503966
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val) rs2135929542
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln) rs2083504168
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro) rs2083504168
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala) rs876659748
NM_000051.4(ATM):c.5428A>T (p.Thr1810Ser) rs876659748
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile) rs1565479223
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp) rs2083505270
NM_000051.4(ATM):c.5442G>A (p.Leu1814=) rs2083505400
NM_000051.4(ATM):c.5444A>T (p.Asp1815Val)
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu)
NM_000051.4(ATM):c.5445C>G (p.Asp1815Glu) rs1555106518
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr) rs2135930154
NM_000051.4(ATM):c.544G>A (p.Val182Ile) rs3218707
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser) rs774784546
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu) rs1555106531
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr) rs1565479431
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys) rs1591712872
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala) rs2135930592
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe) rs2083508049
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro) rs1565479465
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile) rs1555106563
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val) rs1555106563
NM_000051.4(ATM):c.547C>G (p.His183Asp) rs1409889384
NM_000051.4(ATM):c.547C>T (p.His183Tyr) rs1409889384
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln) rs2083509111
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu) rs587781622
NM_000051.4(ATM):c.548A>C (p.His183Pro) rs786204219
NM_000051.4(ATM):c.548A>G (p.His183Arg) rs786204219
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile) rs779720793
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr) rs1555106575
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496+4A>G rs1565479590
NM_000051.4(ATM):c.5496A>G (p.Glu1832=) rs1591713080
NM_000051.4(ATM):c.5497-3T>A rs1064795486
NM_000051.4(ATM):c.5497-3T>C rs1064795486
NM_000051.4(ATM):c.5497-4dup rs2083589744
NM_000051.4(ATM):c.5497G>A (p.Val1833Met) rs2135942364
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)
NM_000051.4(ATM):c.549T>A (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.549T>G (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser) rs2135942516
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn) rs2135942560
NM_000051.4(ATM):c.5506G>C (p.Asp1836His) rs2135942560
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val) rs1555107256
NM_000051.4(ATM):c.5509T>C (p.Phe1837Leu)
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.5512T>C (p.Cys1838Arg) rs587781390
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.4(ATM):c.5513G>C (p.Cys1838Ser)
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)
NM_000051.4(ATM):c.551G>A (p.Arg184Lys) rs2135223542
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile) rs1565481593
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg) rs1060501619
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg) rs764522350
NM_000051.4(ATM):c.5531A>C (p.Tyr1844Ser) rs876658907
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe) rs587779849
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
NM_000051.4(ATM):c.5539C>G (p.His1847Asp) rs1591717732
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
NM_000051.4(ATM):c.5540A>G (p.His1847Arg) rs2083593874
NM_000051.4(ATM):c.5542G>C (p.Asp1848His) rs2135943397
NM_000051.4(ATM):c.5542_5544del (p.Asp1848del)
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.4(ATM):c.5550A>C (p.Leu1850Phe)
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.4(ATM):c.5552T>A (p.Leu1851His) rs2135943595
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro) rs2135943595
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.4(ATM):c.5564A>C (p.Asn1855Thr)
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser) rs1565481878
NM_000051.4(ATM):c.5565T>G (p.Asn1855Lys) rs1565481888
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln) rs1465041573
NM_000051.4(ATM):c.5570C>T (p.Ser1857Leu)
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg) rs2083597320
NM_000051.4(ATM):c.5575A>G (p.Arg1859Gly) rs1565481925
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5576G>T (p.Arg1859Ile) rs1060501568
NM_000051.4(ATM):c.5579A>G (p.Asn1860Ser) rs2083597981
NM_000051.4(ATM):c.557T>C (p.Leu186Ser) rs1555066388
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys) rs2083598099
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met) rs1314298685
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val) rs149362482
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.5585T>A (p.Leu1862His) rs1555107424
NM_000051.4(ATM):c.5585T>C (p.Leu1862Pro) rs1555107424
NM_000051.4(ATM):c.558A>C (p.Leu186Phe) rs991667156
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile) rs779156037
NM_000051.4(ATM):c.5593C>A (p.His1865Asn) rs567908537
NM_000051.4(ATM):c.5594A>G (p.His1865Arg) rs876659963
NM_000051.4(ATM):c.5595T>A (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5595T>G (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly) rs2083600177
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys) rs2135944782
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu) rs2135944782
NM_000051.4(ATM):c.559G>A (p.Val187Met) rs1060501614
NM_000051.4(ATM):c.559G>T (p.Val187Leu) rs1060501614
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457
NM_000051.4(ATM):c.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu) rs1565482084
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.4(ATM):c.5605T>G (p.Phe1869Val) rs975721205
NM_000051.4(ATM):c.5607T>G (p.Phe1869Leu)
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
NM_000051.4(ATM):c.5611A>G (p.Thr1871Ala)
NM_000051.4(ATM):c.5614A>G (p.Ser1872Gly) rs2135945114
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn) rs761257154
NM_000051.4(ATM):c.5615G>C (p.Ser1872Thr) rs761257154
NM_000051.4(ATM):c.5617T>A (p.Cys1873Ser) rs2083601964
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.4(ATM):c.5627A>G (p.His1876Arg) rs967371351
NM_000051.4(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.4(ATM):c.562G>T (p.Ala188Ser) rs1555066392
NM_000051.4(ATM):c.5631C>A (p.Phe1877Leu)
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs) rs758852420
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.4(ATM):c.5637A>C (p.Gln1879His) rs587781993
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.563C>A (p.Ala188Asp) rs1555066393
NM_000051.4(ATM):c.563C>G (p.Ala188Gly) rs1555066393
NM_000051.4(ATM):c.5642G>C (p.Ser1881Thr) rs2135945850
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro) rs587782236
NM_000051.4(ATM):c.5645G>T (p.Arg1882Leu)
NM_000051.4(ATM):c.5648C>T (p.Ser1883Phe) rs2083605154
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile) rs1565482352
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile) rs2083606342
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr) rs2083606754
NM_000051.4(ATM):c.565A>G (p.Arg189Gly) rs2079701086
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly) rs1297909613
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val) rs1297909613
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met) rs746106249
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu) rs2135946592
NM_000051.4(ATM):c.5673A>G (p.Ser1891=) rs1555107607
NM_000051.4(ATM):c.5675-10T>A rs377599533
NM_000051.4(ATM):c.5675-2dup rs2135975648
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp) rs2135975691
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
NM_000051.4(ATM):c.567A>T (p.Arg189Ser) rs1555066398
NM_000051.4(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.4(ATM):c.5683C>G (p.His1895Asp) rs766901049
NM_000051.4(ATM):c.5684A>C (p.His1895Pro) rs2135975923
NM_000051.4(ATM):c.5686T>G (p.Phe1896Val) rs1565485959
NM_000051.4(ATM):c.568A>G (p.Ile190Val) rs1565369501
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser) rs373213507
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.5698T>G (p.Cys1900Gly) rs2083817433
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser) rs1591731972
NM_000051.4(ATM):c.56G>C (p.Arg19Thr) rs1064793029
NM_000051.4(ATM):c.5703G>A (p.Leu1901=) rs756979112
NM_000051.4(ATM):c.5703G>C (p.Leu1901Phe) rs756979112
NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe) rs756979112
NM_000051.4(ATM):c.5704G>A (p.Asp1902Asn) rs1565486050
NM_000051.4(ATM):c.5704G>T (p.Asp1902Tyr) rs1565486050
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly) rs1565486057
NM_000051.4(ATM):c.5705A>T (p.Asp1902Val)
NM_000051.4(ATM):c.5708A>G (p.Lys1903Arg) rs2083818567
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg) rs1591732095
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly) rs2083819737
NM_000051.4(ATM):c.5722A>G (p.Thr1908Ala)
NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg) rs2135977089
NM_000051.4(ATM):c.5723C>T (p.Thr1908Ile) rs2135977089
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys) rs542378165
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr) rs542378165
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg) rs542378165
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile) rs1555109119
NM_000051.4(ATM):c.5728C>G (p.Leu1910Val) rs143577586
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe) rs143577586
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro) rs2135977294
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro) rs2135977350
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu) rs1064794105
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly) rs1060501688
NM_000051.4(ATM):c.573T>G (p.Ile191Met) rs775003417
NM_000051.4(ATM):c.5741A>G (p.Asp1914Gly)
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His) rs2135977706
NM_000051.4(ATM):c.5746A>T (p.Met1916Leu) rs910274159
NM_000051.4(ATM):c.5748G>A (p.Met1916Ile) rs2083822362
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle) rs876659524
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly) rs2083822627
NM_000051.4(ATM):c.574C>A (p.His192Asn) rs587780629
NM_000051.4(ATM):c.574C>G (p.His192Asp) rs587780629
NM_000051.4(ATM):c.574C>T (p.His192Tyr) rs587780629
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys) rs377289524
NM_000051.4(ATM):c.5755C>A (p.Gln1919Lys)
NM_000051.4(ATM):c.5755C>G (p.Gln1919Glu) rs2083823146
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro) rs1565486302
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg) rs2135978116
NM_000051.4(ATM):c.575A>G (p.His192Arg) rs1555066411
NM_000051.4(ATM):c.575A>T (p.His192Leu)
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5762+3A>T
NM_000051.4(ATM):c.5762+3_5762+4del
NM_000051.4(ATM):c.5762+8A>C rs2083824504
NM_000051.4(ATM):c.5763-1080A>G
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr) rs587781865
NM_000051.4(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.576T>G (p.His192Gln) rs2079702502
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu) rs876658831
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg) rs1591745423
NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu) rs755055090
NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala) rs755055090
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.4(ATM):c.5777C>A (p.Thr1926Lys) rs876660944
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val) rs753218533
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.5783T>G (p.Phe1928Cys) rs2136012463
NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu) rs1290871799
NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile) rs756661278
NM_000051.4(ATM):c.5789A>T (p.Asp1930Val)
NM_000051.4(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.4(ATM):c.5791G>A (p.Ala1931Thr) rs2136012919
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.4(ATM):c.5794T>A (p.Phe1932Ile)
NM_000051.4(ATM):c.5794T>C (p.Phe1932Leu) rs2084025775
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys) rs1591745679
NM_000051.4(ATM):c.5799G>C (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799G>T (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799_5800delinsTT (p.Trp1933Cys)
NM_000051.4(ATM):c.5800C>A (p.Leu1934Met) rs2084026395
NM_000051.4(ATM):c.5801T>C (p.Leu1934Pro)
NM_000051.4(ATM):c.5802G>A (p.Leu1934=)
NM_000051.4(ATM):c.5803G>A (p.Asp1935Asn) rs1299051422
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)
NM_000051.4(ATM):c.5809A>G (p.Asn1937Asp) rs2136013971
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn) rs786203668
NM_000051.4(ATM):c.5816T>G (p.Leu1939Arg) rs1555110340
NM_000051.4(ATM):c.5818G>A (p.Glu1940Lys) rs2084028082
NM_000051.4(ATM):c.581T>C (p.Val194Ala) rs2135224694
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp) rs2084028240
NM_000051.4(ATM):c.5821G>T (p.Val1941Phe) rs147187700
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr) rs1286443989
NM_000051.4(ATM):c.5828A>C (p.Lys1943Thr) rs746676271
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.4(ATM):c.5834C>G (p.Ala1945Gly)
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val) rs1356309376
NM_000051.4(ATM):c.5838G>T (p.Gln1946His) rs1060501612
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)
NM_000051.4(ATM):c.5845G>A (p.Ala1949Thr) rs1555110401
NM_000051.4(ATM):c.5845G>T (p.Ala1949Ser) rs1555110401
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr) rs1591746066
NM_000051.4(ATM):c.5849C>A (p.Ala1950Asp) rs1591746083
NM_000051.4(ATM):c.5849C>T (p.Ala1950Val) rs1591746083
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.4(ATM):c.5851C>G (p.His1951Asp) rs1060501673
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile) rs1555110421
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala) rs2084033441
NM_000051.4(ATM):c.5858C>A (p.Thr1953Lys)
NM_000051.4(ATM):c.5858C>G (p.Thr1953Arg) rs587781963
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.4(ATM):c.5865A>C (p.Leu1955Phe)
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.586A>C (p.Lys196Gln) rs2079703283
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys) rs1591746364
NM_000051.4(ATM):c.5872G>C (p.Ala1958Pro)
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.587A>G (p.Lys196Arg)
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5887G>C (p.Asp1963His) rs864622148
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg) rs1555110503
NM_000051.4(ATM):c.5892_5894del (p.Lys1965del) rs2084037387
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.589G>A (p.Gly197Arg) rs764080545
NM_000051.4(ATM):c.58G>A (p.Ala20Thr) rs1555053946
NM_000051.4(ATM):c.5901G>A (p.Met1967Ile) rs2136018731
NM_000051.4(ATM):c.5903A>G (p.Asp1968Gly) rs2136018837
NM_000051.4(ATM):c.5905G>T (p.Asp1969Tyr) rs1156785681
NM_000051.4(ATM):c.5906A>C (p.Asp1969Ala)
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.4(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.5912A>T (p.Glu1971Val) rs1565490253
NM_000051.4(ATM):c.5913G>T (p.Glu1971Asp) rs2084040593
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5917A>C (p.Arg1973=) rs786202089
NM_000051.4(ATM):c.5918+3A>G rs1555110595
NM_000051.4(ATM):c.5918+6G>A rs2084041898
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-16T>C
NM_000051.4(ATM):c.5919-20G>T
NM_000051.4(ATM):c.5921G>A (p.Ser1974Asn) rs2084241093
NM_000051.4(ATM):c.5923C>A (p.Leu1975Ile) rs2084241290
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr) rs2084241683
NM_000051.4(ATM):c.5926G>C (p.Ala1976Pro) rs2084241683
NM_000051.4(ATM):c.5927C>G (p.Ala1976Gly)
NM_000051.4(ATM):c.5927C>T (p.Ala1976Val) rs1197973623
NM_000051.4(ATM):c.5931T>A (p.Phe1977Leu) rs2136059294
NM_000051.4(ATM):c.5935G>A (p.Glu1979Lys)
NM_000051.4(ATM):c.594C>G (p.Cys198Trp) rs1591500282
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg) rs770722380
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.4(ATM):c.5954C>T (p.Thr1985Ile) rs1207215818
NM_000051.4(ATM):c.5954_5998dup (p.Ile1999_Ser2000insThrIleSerSerLeuSerGluLysSerLysGluGluThrGlyIle) rs2136060457
NM_000051.4(ATM):c.5957T>C (p.Ile1986Thr) rs2084246805
NM_000051.4(ATM):c.595T>C (p.Cys199Arg) rs1591500295
NM_000051.4(ATM):c.5964C>G (p.Ser1988Arg) rs774260725
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg) rs1275100503
NM_000051.4(ATM):c.5968A>G (p.Ser1990Gly)
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127
NM_000051.4(ATM):c.5970T>A (p.Ser1990Arg) rs2084248780
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly) rs866824608
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.5975_5977del (p.Lys1992del) rs1591758642
NM_000051.4(ATM):c.5977A>C (p.Ser1993Arg) rs1591758703
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys) rs1591758642
NM_000051.4(ATM):c.5978G>A (p.Ser1993Asn) rs1406659883
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile) rs1406659883
NM_000051.4(ATM):c.597T>G (p.Cys199Trp) rs1565369633
NM_000051.4(ATM):c.5980A>C (p.Lys1994Gln) rs1565493693
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)
NM_000051.4(ATM):c.5982_5983insAGTAAGAAAAAAAGTAAA (p.Lys1994_Glu1995insSerLysLysLysSerLys)
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.4(ATM):c.5983GAA[1] (p.Glu1996del) rs1555111872
NM_000051.4(ATM):c.5988A>T (p.Glu1996Asp) rs1591758852
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro) rs1591758871
NM_000051.4(ATM):c.5989A>G (p.Thr1997Ala)
NM_000051.4(ATM):c.5990C>T (p.Thr1997Ile) rs2084253742
NM_000051.4(ATM):c.5993G>A (p.Gly1998Glu) rs1188125296
NM_000051.4(ATM):c.5995A>C (p.Ile1999Leu) rs1201228506
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val) rs1201228506
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys) rs2136063107
NM_000051.4(ATM):c.5996T>C (p.Ile1999Thr)
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile) rs775921052
NM_000051.4(ATM):c.599C>G (p.Ser200Cys) rs1060501562
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg) rs1591759049
NM_000051.4(ATM):c.6006+3A>C
NM_000051.4(ATM):c.6006+4A>C
NM_000051.4(ATM):c.6006+4A>G
NM_000051.4(ATM):c.6006+4_6006+5del rs879254108
NM_000051.4(ATM):c.6006+6T>C rs1565493858
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6006G>C (p.Gln2002His) rs1591759073
NM_000051.4(ATM):c.6007-20T>A
NM_000051.4(ATM):c.6007-3C>G rs2084583739
NM_000051.4(ATM):c.6007-6T>G rs2136116961
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6008A>G (p.Asp2003Gly) rs2136117409
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu) rs878853526
NM_000051.4(ATM):c.6010C>A (p.Leu2004Ile) rs1060501561
NM_000051.4(ATM):c.6011T>C (p.Leu2004Pro) rs1064795932
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val) rs1555113531
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp) rs1555113549
NM_000051.4(ATM):c.6022A>G (p.Ile2008Val) rs2084586855
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr) rs876660227
NM_000051.4(ATM):c.6024C>G (p.Ile2008Met) rs2136118296
NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn) rs199586999
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys) rs2136118434
NM_000051.4(ATM):c.6028A>G (p.Arg2010Gly) rs2136118563
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met) rs1591776713
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg) rs2084587881
NM_000051.4(ATM):c.6038G>C (p.Gly2013Ala)
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys) rs375783941
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6041A>G (p.Glu2014Gly)
NM_000051.4(ATM):c.6043C>G (p.Pro2015Ala)
NM_000051.4(ATM):c.6044C>T (p.Pro2015Leu) rs2084588823
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.4(ATM):c.6050_6057delinsTA (p.Ser2017_Tyr2019delinsIle) rs1565498913
NM_000051.4(ATM):c.6051T>G (p.Ser2017Arg) rs2084589926
NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser) rs755694394
NM_000051.4(ATM):c.6053T>G (p.Leu2018Trp)
NM_000051.4(ATM):c.6053_6055del (p.Leu2018del)
NM_000051.4(ATM):c.6054G>T (p.Leu2018Phe)
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His) rs1591776885
NM_000051.4(ATM):c.6056A>C (p.Tyr2019Ser) rs876658415
NM_000051.4(ATM):c.6058G>C (p.Gly2020Arg) rs2084590997
NM_000051.4(ATM):c.6059G>A (p.Gly2020Asp) rs1591776938
NM_000051.4(ATM):c.6059G>T (p.Gly2020Val) rs1591776938
NM_000051.4(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg) rs1591776961
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp) rs1591777028
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg) rs1565499041
NM_000051.4(ATM):c.6070G>T (p.Gly2024Trp) rs1565499041
NM_000051.4(ATM):c.6071G>A (p.Gly2024Glu) rs1060501564
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn) rs1591777158
NM_000051.4(ATM):c.6077T>C (p.Met2026Thr) rs2136121082
NM_000051.4(ATM):c.607G>A (p.Asp203Asn) rs1591500372
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.4(ATM):c.6082C>G (p.Gln2028Glu) rs876659454
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg) rs863224575
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu) rs863224575
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro) rs1591777327
NM_000051.4(ATM):c.6092C>G (p.Thr2031Ser) rs1555113613
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6095+4A>C rs1555113632
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6095G>T (p.Arg2032Ile) rs139770721
NM_000051.4(ATM):c.6096-3T>G rs748380897
NM_000051.4(ATM):c.6096-3del
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser) rs1591778359
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val) rs769813736
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
NM_000051.4(ATM):c.6101G>C (p.Arg2034Pro) rs3218670
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile) rs2136127153
NM_000051.4(ATM):c.6106T>G (p.Tyr2036Asp) rs1591778483
NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys) rs786204141
NM_000051.4(ATM):c.6109G>A (p.Glu2037Lys)
NM_000051.4(ATM):c.6109G>C (p.Glu2037Gln) rs1448711296
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly) rs2084612043
NM_000051.4(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000051.4(ATM):c.6112C>G (p.His2038Asp) rs1060501643
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr) rs1060501643
NM_000051.4(ATM):c.6113A>G (p.His2038Arg) rs2084612536
NM_000051.4(ATM):c.6114C>A (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.4(ATM):c.6118G>C (p.Ala2040Pro) rs863224576
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu) rs1299506506
NM_000051.4(ATM):c.6119C>G (p.Ala2040Gly)
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6122T>A (p.Met2041Lys)
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile) rs1555113740
NM_000051.4(ATM):c.6124T>C (p.Trp2042Arg) rs1591778747
NM_000051.4(ATM):c.6125G>T (p.Trp2042Leu) rs1565499657
NM_000051.4(ATM):c.6126G>C (p.Trp2042Cys) rs2084615312
NM_000051.4(ATM):c.6127_6136delinsT (p.Gly2043_Ala2045del) rs1064792941
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val) rs753384717
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr) rs2084616257
NM_000051.4(ATM):c.6136C>G (p.Leu2046Val) rs1456877872
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile) rs1591778897
NM_000051.4(ATM):c.6139_6141dup (p.Val2047_Thr2048insVal) rs1591778872
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly) rs878853528
NM_000051.4(ATM):c.6145T>C (p.Tyr2049His)
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys) rs1233757467
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile) rs1591779081
NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe) rs1591779081
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly) rs1591779138
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg) rs2136130260
NM_000051.4(ATM):c.6160G>A (p.Ala2054Thr) rs587779853
NM_000051.4(ATM):c.6161C>G (p.Ala2054Gly)
NM_000051.4(ATM):c.6163_6165del (p.Ile2055del) rs1565499855
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.4(ATM):c.6169T>C (p.Ser2057Pro) rs2084622401
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.6170C>T (p.Ser2057Leu) rs1591779290
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.6179G>T (p.Arg2060Leu) rs376521407
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro) rs1591779456
NM_000051.4(ATM):c.6184G>T (p.Ala2062Ser) rs2136131994
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6191T>A (p.Ile2064Asn) rs1555113854
NM_000051.4(ATM):c.6191T>C (p.Ile2064Thr) rs1555113854
NM_000051.4(ATM):c.6192C>G (p.Ile2064Met)
NM_000051.4(ATM):c.6196C>A (p.Gln2066Lys) rs1361215494
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu) rs1361215494
NM_000051.4(ATM):c.6196_6198del (p.Gln2066del) rs2136132718
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.4(ATM):c.6198+3A>C rs786202092
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198+4C>T rs749370650
NM_000051.4(ATM):c.6198G>A (p.Gln2066=) rs786203341
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-7T>A rs1060501631
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.61A>C (p.Thr21Pro)
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6204_6205delinsAA (p.Gln2069Lys)
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu) rs1555114563
NM_000051.4(ATM):c.6206A>G (p.Gln2069Arg) rs1591789003
NM_000051.4(ATM):c.6207G>C (p.Gln2069His) rs2136162810
NM_000051.4(ATM):c.6208A>G (p.Asn2070Asp) rs2136162879
NM_000051.4(ATM):c.6208A>T (p.Asn2070Tyr)
NM_000051.4(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.4(ATM):c.6215G>A (p.Gly2072Glu) rs1183544857
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6218T>A (p.Leu2073His)
NM_000051.4(ATM):c.6218T>C (p.Leu2073Pro) rs1555114582
NM_000051.4(ATM):c.6218_6219delinsAA (p.Leu2073Gln)
NM_000051.4(ATM):c.6220T>C (p.Cys2074Arg) rs2136163545
NM_000051.4(ATM):c.6224A>C (p.His2075Pro) rs1555114602
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile) rs1591789195
NM_000051.4(ATM):c.6229C>G (p.Leu2077Val) rs1591789195
NM_000051.4(ATM):c.6229C>T (p.Leu2077Phe)
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.6230T>C (p.Leu2077Pro)
NM_000051.4(ATM):c.6232T>A (p.Ser2078Thr)
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) rs786204173
NM_000051.4(ATM):c.6235_6236insAAG (p.Ser2078_Val2079insGlu) rs1591789280
NM_000051.4(ATM):c.6236T>C (p.Val2079Ala)
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.4(ATM):c.623A>G (p.Lys208Arg) rs2135226282
NM_000051.4(ATM):c.6243A>T (p.Leu2081Phe) rs2084779894
NM_000051.4(ATM):c.6245A>C (p.Lys2082Thr) rs2136164813
NM_000051.4(ATM):c.6245A>T (p.Lys2082Ile)
NM_000051.4(ATM):c.6246A>T (p.Lys2082Asn) rs745977589
NM_000051.4(ATM):c.6247G>C (p.Gly2083Arg) rs1060501586
NM_000051.4(ATM):c.6248G>A (p.Gly2083Glu) rs1060501559
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala) rs1060501559
NM_000051.4(ATM):c.6248G>T (p.Gly2083Val) rs1060501559
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val) rs772608345
NM_000051.4(ATM):c.6253G>C (p.Asp2085His) rs730881379
NM_000051.4(ATM):c.6254A>T (p.Asp2085Val) rs2136165263
NM_000051.4(ATM):c.6256T>A (p.Tyr2086Asn) rs2084781602
NM_000051.4(ATM):c.6256T>C (p.Tyr2086His) rs2084781602
NM_000051.4(ATM):c.6256_6258del (p.Tyr2086del)
NM_000051.4(ATM):c.6256_6261del (p.Tyr2086_Glu2087del) rs1555114670
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys) rs730881380
NM_000051.4(ATM):c.6260A>C (p.Glu2087Ala)
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.6263A>G (p.Asn2088Ser) rs2084783116
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn) rs863224577
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr) rs915524411
NM_000051.4(ATM):c.6269A>C (p.Asp2090Ala) rs1555114696
NM_000051.4(ATM):c.6271T>A (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>C (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly) rs2084784301
NM_000051.4(ATM):c.6275G>T (p.Cys2092Phe)
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys) rs1565503182
NM_000051.4(ATM):c.6283C>A (p.Leu2095Ile)
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.4(ATM):c.6286GAA[1] (p.Glu2097del)
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6293T>G (p.Leu2098Arg) rs587780631
NM_000051.4(ATM):c.6295C>G (p.His2099Asp) rs2084787307
NM_000051.4(ATM):c.629T>C (p.Leu210Ser) rs2079706543
NM_000051.4(ATM):c.62C>A (p.Thr21Lys)
NM_000051.4(ATM):c.62C>G (p.Thr21Arg)
NM_000051.4(ATM):c.62C>T (p.Thr21Ile) rs1442769051
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys) rs876660164
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu) rs876660164
NM_000051.4(ATM):c.6302A>C (p.Gln2101Pro) rs1565503316
NM_000051.4(ATM):c.6303A>G (p.Gln2101=) rs876659325
NM_000051.4(ATM):c.6304G>T (p.Ala2102Ser) rs1565503340
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val) rs1591790037
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
NM_000051.4(ATM):c.6310T>G (p.Trp2104Gly)
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.4(ATM):c.6312G>C (p.Trp2104Cys)
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.4(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.4(ATM):c.6321G>A (p.Met2107Ile) rs765763407
NM_000051.4(ATM):c.6321G>C (p.Met2107Ile)
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro) rs773891864
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.4(ATM):c.6323A>T (p.Gln2108Leu) rs773891864
NM_000051.4(ATM):c.6324G>T (p.Gln2108His) rs2136169496
NM_000051.4(ATM):c.6325T>C (p.Trp2109Arg) rs1060501654
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.6330C>G (p.Asp2110Glu) rs759029705
NM_000051.4(ATM):c.6332A>C (p.His2111Pro) rs876658300
NM_000051.4(ATM):c.6333_6341dup (p.Ser2114_Val2115insCysThrSer) rs2084792995
NM_000051.4(ATM):c.6334T>A (p.Cys2112Ser) rs2136170176
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr) rs1591790360
NM_000051.4(ATM):c.6335G>T (p.Cys2112Phe) rs1591790360
NM_000051.4(ATM):c.6337A>C (p.Thr2113Pro)
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr) rs1591790425
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6345_6347+7dup rs2136170862
NM_000051.4(ATM):c.6346A>C (p.Ser2116Arg) rs2084794474
NM_000051.4(ATM):c.6347+3A>G rs1555114854
NM_000051.4(ATM):c.6347+4A>G rs1342227995
NM_000051.4(ATM):c.6349A>G (p.Lys2117Glu)
NM_000051.4(ATM):c.6350AAG[1] (p.Glu2118del) rs2085076333
NM_000051.4(ATM):c.6353A>T (p.Glu2118Val) rs2136218659
NM_000051.4(ATM):c.6355G>A (p.Val2119Ile)
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6359A>G (p.Glu2120Gly) rs1591099714
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.6360A>T (p.Glu2120Asp) rs1565508657
NM_000051.4(ATM):c.6365C>T (p.Thr2122Ile)
NM_000051.4(ATM):c.6367A>C (p.Ser2123Arg)
NM_000051.4(ATM):c.6368G>C (p.Ser2123Thr) rs1064794104
NM_000051.4(ATM):c.6371A>G (p.Tyr2124Cys)
NM_000051.4(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.4(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.4(ATM):c.6384G>C (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6384G>T (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.4(ATM):c.6388A>C (p.Asn2130His) rs2085081321
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser) rs2136220181
NM_000051.4(ATM):c.6391G>C (p.Ala2131Pro)
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6394C>G (p.Leu2132Val) rs551408889
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
NM_000051.4(ATM):c.6403C>G (p.Leu2135Val) rs2085083391
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro) rs1591100266
NM_000051.4(ATM):c.6407G>A (p.Arg2136Lys) rs2085084255
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.6420C>G (p.Phe2140Leu) rs587780635
NM_000051.4(ATM):c.6422C>G (p.Ser2141Cys)
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6425C>T (p.Thr2142Ile) rs1809463261
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.6436A>G (p.Ser2146Gly) rs2136222103
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn) rs56815840
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6438T>G (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6439C>G (p.Leu2147Val)
NM_000051.4(ATM):c.643A>G (p.Lys215Glu) rs2079708238
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr) rs730881382
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.6444A>G (p.Lys2148=) rs2136222477
NM_000051.4(ATM):c.6446A>G (p.Tyr2149Cys)
NM_000051.4(ATM):c.6448G>A (p.Ala2150Thr) rs1591100678
NM_000051.4(ATM):c.6449C>T (p.Ala2150Val) rs2136222623
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
NM_000051.4(ATM):c.6452+20T>G
NM_000051.4(ATM):c.6452+6A>G rs878853531
NM_000051.4(ATM):c.6452+6A>T rs878853531
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr) rs2136222746
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-17_6453-16del
NM_000051.4(ATM):c.6453-3T>C rs768073845
NM_000051.4(ATM):c.6453-4C>G rs2085189849
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile) rs753158040
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val) rs2136238562
NM_000051.4(ATM):c.6463G>A (p.Val2155Met) rs2136238666
NM_000051.4(ATM):c.6464T>C (p.Val2155Ala) rs1060501532
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly) rs1591106982
NM_000051.4(ATM):c.6471G>C (p.Glu2157Asp) rs1555117097
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.4(ATM):c.647C>T (p.Ala216Val) rs2135227079
NM_000051.4(ATM):c.6481C>G (p.Arg2161Gly) rs1064793958
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly) rs2085194212
NM_000051.4(ATM):c.6485G>A (p.Ser2162Asn)
NM_000051.4(ATM):c.6486C>A (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val) rs1591107130
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg) rs779742477
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.4(ATM):c.6490G>C (p.Glu2164Gln) rs1317619286
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala) rs1591107186
NM_000051.4(ATM):c.6491A>G (p.Glu2164Gly) rs1591107186
NM_000051.4(ATM):c.6491A>T (p.Glu2164Val) rs1591107186
NM_000051.4(ATM):c.6492G>C (p.Glu2164Asp)
NM_000051.4(ATM):c.6492G>T (p.Glu2164Asp) rs2136239707
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)
NM_000051.4(ATM):c.6494C>T (p.Ser2165Phe) rs2085195776
NM_000051.4(ATM):c.649A>C (p.Ile217Leu) rs547045780
NM_000051.4(ATM):c.649A>T (p.Ile217Phe) rs547045780
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)
NM_000051.4(ATM):c.6500A>T (p.Tyr2167Phe) rs768155385
NM_000051.4(ATM):c.6503C>G (p.Ser2168Trp) rs200431631
NM_000051.4(ATM):c.6505_6519del (p.Leu2169_Leu2173del) rs1555117162
NM_000051.4(ATM):c.6506T>A (p.Leu2169His)
NM_000051.4(ATM):c.6506T>C (p.Leu2169Pro) rs748054311
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.4(ATM):c.6509A>C (p.Tyr2170Ser)
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.4(ATM):c.6515C>A (p.Thr2172Lys)
NM_000051.4(ATM):c.6517C>G (p.Leu2173Val) rs1565511354
NM_000051.4(ATM):c.6518T>A (p.Leu2173His) rs1173542225
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)
NM_000051.4(ATM):c.6521G>A (p.Ser2174Asn) rs1470293148
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys) rs1555117188
NM_000051.4(ATM):c.6524G>C (p.Arg2175Thr) rs1555117188
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met) rs1555117188
NM_000051.4(ATM):c.6525G>T (p.Arg2175Ser)
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.4(ATM):c.6529C>G (p.Gln2177Glu)
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro) rs1060501573
NM_000051.4(ATM):c.6530A>G (p.Gln2177Arg) rs1060501573
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val) rs2136241829
NM_000051.4(ATM):c.653A>C (p.Gln218Pro) rs1198686265
NM_000051.4(ATM):c.653A>G (p.Gln218Arg) rs1198686265
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly) rs2085203449
NM_000051.4(ATM):c.6547G>A (p.Glu2183Lys) rs2085204408
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe) rs2085205198
NM_000051.4(ATM):c.6554T>G (p.Ile2185Ser) rs779611511
NM_000051.4(ATM):c.6558G>T (p.Gly2186=) rs1555117263
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6562C>T (p.Leu2188Phe) rs1060501682
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+2dup
NM_000051.4(ATM):c.6572+3A>G rs778574672
NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys) rs1196814221
NM_000051.4(ATM):c.6572G>C (p.Arg2191Thr) rs1196814221
NM_000051.4(ATM):c.6573A>G (p.Arg2191=) rs1565518004
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile) rs1476384636
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6584A>C (p.His2195Pro) rs1565518051
NM_000051.4(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.4(ATM):c.658G>A (p.Ala220Thr) rs2135227395
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro) rs1412850323
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr) rs1591128462
NM_000051.4(ATM):c.6598G>A (p.Glu2200Lys) rs2085552425
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
NM_000051.4(ATM):c.6600A>G (p.Glu2200=) rs2136308135
NM_000051.4(ATM):c.6601G>C (p.Val2201Leu)
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala) rs876658435
NM_000051.4(ATM):c.6602_6610del (p.Val2201_Lys2204delinsGlu)
NM_000051.4(ATM):c.6604T>C (p.Tyr2202His) rs730881311
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr) rs2085553784
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.6614G>C (p.Trp2205Ser)
NM_000051.4(ATM):c.6615G>C (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6615G>T (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu) rs2085554912
NM_000051.4(ATM):c.6618G>C (p.Gln2206His) rs2085555121
NM_000051.4(ATM):c.661A>G (p.Arg221Gly) rs2135227474
NM_000051.4(ATM):c.662+3A>C
NM_000051.4(ATM):c.662+3A>G rs2135227609
NM_000051.4(ATM):c.662+4A>G rs1555066570
NM_000051.4(ATM):c.662+5T>C rs2079711059
NM_000051.4(ATM):c.662+6C>G rs1565369978
NM_000051.4(ATM):c.6620A>G (p.Lys2207Arg) rs1565518213
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6624C>A (p.His2208Gln) rs2136309199
NM_000051.4(ATM):c.662G>A (p.Arg221Lys) rs776349773
NM_000051.4(ATM):c.663-12_663-9del
NM_000051.4(ATM):c.663-13T>C
NM_000051.4(ATM):c.663-3C>G rs2079752506
NM_000051.4(ATM):c.663-3C>T rs2079752506
NM_000051.4(ATM):c.663-5C>T rs1591503207
NM_000051.4(ATM):c.6630G>C (p.Gln2210His)
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.4(ATM):c.6632T>C (p.Leu2211Pro)
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg) rs2136309652
NM_000051.4(ATM):c.6635T>C (p.Leu2212Pro)
NM_000051.4(ATM):c.663A>G (p.Arg221=) rs1555066913
NM_000051.4(ATM):c.663A>T (p.Arg221Ser) rs1555066913
NM_000051.4(ATM):c.6640G>T (p.Asp2214Tyr) rs1433554922
NM_000051.4(ATM):c.6643A>C (p.Ser2215Arg) rs730881312
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly) rs730881312
NM_000051.4(ATM):c.6644G>C (p.Ser2215Thr) rs1591128755
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn) rs1482691031
NM_000051.4(ATM):c.664C>G (p.Gln222Glu) rs1555066917
NM_000051.4(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer) rs1555119092
NM_000051.4(ATM):c.6652A>G (p.Ser2218Gly) rs749261367
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val) rs2136310909
NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu) rs2085560685
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys) rs1591128898
NM_000051.4(ATM):c.6661G>C (p.Glu2221Gln) rs1591128898
NM_000051.4(ATM):c.6665C>A (p.Pro2222His) rs997021874
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg) rs997021874
NM_000051.4(ATM):c.6665C>T (p.Pro2222Leu)
NM_000051.4(ATM):c.6667A>C (p.Ile2223Leu) rs1028293945
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6670A>C (p.Met2224Leu) rs545873723
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile) rs2136311974
NM_000051.4(ATM):c.6673G>A (p.Ala2225Thr) rs1555119121
NM_000051.4(ATM):c.6673G>T (p.Ala2225Ser)
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6683C>A (p.Thr2228Lys) rs2085565666
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly) rs1555119144
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu) rs1385625521
NM_000051.4(ATM):c.6698T>C (p.Ile2233Thr) rs2136313236
NM_000051.4(ATM):c.6699C>G (p.Ile2233Met) rs1555119149
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro) rs1158183992
NM_000051.4(ATM):c.6704T>C (p.Met2235Thr)
NM_000051.4(ATM):c.6705G>T (p.Met2235Ile)
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg) rs35118109
NM_000051.4(ATM):c.6712G>A (p.Glu2238Lys) rs2136313885
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala) rs1591129372
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val) rs1591129372
NM_000051.4(ATM):c.6715A>C (p.Met2239Leu) rs2085569409
NM_000051.4(ATM):c.6716T>C (p.Met2239Thr)
NM_000051.4(ATM):c.6717G>A (p.Met2239Ile) rs1555119181
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6719A>G (p.Asp2240Gly)
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr) rs786202583
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr) rs1309164461
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.4(ATM):c.6728A>G (p.Gln2243Arg)
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.6731G>A (p.Arg2244Lys) rs2136315016
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys) rs2085572299
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln) rs2085572299
NM_000051.4(ATM):c.6737G>A (p.Cys2246Tyr) rs2085573174
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu) rs587781521
NM_000051.4(ATM):c.673A>C (p.Ser225Arg) rs2079753846
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu) rs1555119232
NM_000051.4(ATM):c.6743A>C (p.Lys2248Thr) rs1591129646
NM_000051.4(ATM):c.6745G>A (p.Asp2249Asn) rs1555119235
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.4(ATM):c.6746A>G (p.Asp2249Gly) rs1277367898
NM_000051.4(ATM):c.6746A>T (p.Asp2249Val) rs1277367898
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val) rs2085575228
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro) rs1262434611
NM_000051.4(ATM):c.6755C>A (p.Thr2252Asn) rs755531586
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln) rs863224578
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu) rs863224578
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.675C>A (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.6760C>T (p.His2254Tyr) rs2136316772
NM_000051.4(ATM):c.6761A>C (p.His2254Pro) rs1565518950
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe) rs2085578159
NM_000051.4(ATM):c.6764T>C (p.Leu2255Pro)
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile) rs1565519006
NM_000051.4(ATM):c.6767T>C (p.Val2256Ala) rs2136317245
NM_000051.4(ATM):c.6771A>T (p.Glu2257Asp) rs2085579349
NM_000051.4(ATM):c.6773T>A (p.Leu2258His) rs2136317561
NM_000051.4(ATM):c.6776C>A (p.Ser2259Tyr)
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6778A>T (p.Ile2260Leu)
NM_000051.4(ATM):c.6779T>C (p.Ile2260Thr)
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
NM_000051.4(ATM):c.677C>T (p.Ser226Phe) rs2079754211
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val) rs757243222
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp) rs876660017
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del) rs1565519112
NM_000051.4(ATM):c.6788G>A (p.Arg2263Lys)
NM_000051.4(ATM):c.6791C>G (p.Thr2264Ser)
NM_000051.4(ATM):c.6791C>T (p.Thr2264Ile) rs1468747245
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg) rs1591130168
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.4(ATM):c.6800A>G (p.Asn2267Ser) rs972348231
NM_000051.4(ATM):c.6800A>T (p.Asn2267Ile)
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala) rs1391132040
NM_000051.4(ATM):c.6802A>T (p.Thr2268Ser) rs1391132040
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys) rs2085584895
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu) rs2085584895
NM_000051.4(ATM):c.6807+15A>G
NM_000051.4(ATM):c.6807+2_6807+3insTCTTG
NM_000051.4(ATM):c.6807+4A>G rs1555119382
NM_000051.4(ATM):c.6808-3C>G rs2085644636
NM_000051.4(ATM):c.6808C>T (p.Leu2270Phe) rs2085645038
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser) rs1591133084
NM_000051.4(ATM):c.6812C>T (p.Pro2271Leu)
NM_000051.4(ATM):c.6815A>C (p.Glu2272Ala) rs1565520129
NM_000051.4(ATM):c.6817A>G (p.Arg2273Gly)
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
NM_000051.4(ATM):c.6820_6821delinsAT (p.Ala2274Ile)
NM_000051.4(ATM):c.6821C>G (p.Ala2274Gly)
NM_000051.4(ATM):c.6821C>T (p.Ala2274Val) rs2085647482
NM_000051.4(ATM):c.6823A>C (p.Ile2275Leu) rs587779857
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu) rs1225138469
NM_000051.4(ATM):c.6831A>T (p.Gln2277His) rs1339794219
NM_000051.4(ATM):c.6832A>C (p.Ile2278Leu) rs2085649125
NM_000051.4(ATM):c.6839A>G (p.Gln2280Arg) rs1555119779
NM_000051.4(ATM):c.683G>A (p.Gly228Asp) rs2079754821
NM_000051.4(ATM):c.683G>C (p.Gly228Ala) rs2079754821
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.4(ATM):c.6842A>G (p.Tyr2281Cys) rs2136332870
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.6847T>G (p.Ser2283Ala)
NM_000051.4(ATM):c.6850G>T (p.Val2284Phe) rs2085651553
NM_000051.4(ATM):c.6851T>C (p.Val2284Ala) rs2136333421
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr) rs786203052
NM_000051.4(ATM):c.6857G>T (p.Cys2286Phe) rs786203052
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6863T>A (p.Val2288Asp) rs1591133559
NM_000051.4(ATM):c.6865T>C (p.Ser2289Pro) rs2085653356
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.4(ATM):c.6871T>G (p.Trp2291Gly)
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys) rs2136334606
NM_000051.4(ATM):c.6874C>G (p.Gln2292Glu)
NM_000051.4(ATM):c.6875A>T (p.Gln2292Leu)
NM_000051.4(ATM):c.6877C>A (p.Leu2293Met)
NM_000051.4(ATM):c.6878T>A (p.Leu2293Gln)
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6883G>A (p.Glu2295Lys)
NM_000051.4(ATM):c.6885A>C (p.Glu2295Asp)
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr) rs2085656079
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6893T>C (p.Val2298Ala) rs1565520607
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.689A>G (p.Asn230Ser) rs876659494
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.68G>C (p.Arg23Pro) rs587779858
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys) rs1591133875
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro) rs1060501668
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
NM_000051.4(ATM):c.6904A>G (p.Lys2302Glu) rs2085658893
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met) rs1064795166
NM_000051.4(ATM):c.6911A>G (p.Glu2304Gly)
NM_000051.4(ATM):c.6912G>C (p.Glu2304Asp) rs771382172
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val) rs56009889
NM_000051.4(ATM):c.691C>G (p.His231Asp) rs1460757633
NM_000051.4(ATM):c.6920T>A (p.Leu2307His) rs2085661534
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser) rs1591134072
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val) rs876658454
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly) rs572301723
NM_000051.4(ATM):c.6928A>T (p.Ser2310Cys)
NM_000051.4(ATM):c.692A>C (p.His231Pro) rs587782229
NM_000051.4(ATM):c.692A>T (p.His231Leu) rs587782229
NM_000051.4(ATM):c.6931A>T (p.Ile2311Phe)
NM_000051.4(ATM):c.6935T>A (p.Leu2312His)
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro) rs761352263
NM_000051.4(ATM):c.6941A>G (p.Gln2314Arg)
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.4(ATM):c.6946A>T (p.Ile2316Phe) rs2136338816
NM_000051.4(ATM):c.6947T>A (p.Ile2316Asn) rs1591134289
NM_000051.4(ATM):c.6947T>C (p.Ile2316Thr) rs1591134289
NM_000051.4(ATM):c.694A>G (p.Ile232Val) rs767739747
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.4(ATM):c.6956T>C (p.Leu2319Ser) rs1555120049
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp) rs1555120049
NM_000051.4(ATM):c.6958G>T (p.Asp2320Tyr) rs1565521026
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.4(ATM):c.695T>A (p.Ile232Asn)
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.4(ATM):c.6961G>C (p.Ala2321Pro) rs1060501538
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp) rs1383763069
NM_000051.4(ATM):c.6965G>A (p.Ser2322Asn) rs876659183
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.4(ATM):c.696C>G (p.Ile232Met) rs1591503507
NM_000051.4(ATM):c.6970G>T (p.Ala2324Ser)
NM_000051.4(ATM):c.6971C>T (p.Ala2324Val) rs2136340286
NM_000051.4(ATM):c.6975+4T>A rs876660240
NM_000051.4(ATM):c.6975+4del
NM_000051.4(ATM):c.6975+5G>C rs575354684
NM_000051.4(ATM):c.6975+5_6975+6del rs1064794094
NM_000051.4(ATM):c.6975+5_6975+8del rs1565521135
NM_000051.4(ATM):c.6975+5_6975+9del rs1555120086
NM_000051.4(ATM):c.6975+6T>C rs1169579742
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>T (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-3C>G rs898003667
NM_000051.4(ATM):c.6976-3_6976-2insT rs1060501533
NM_000051.4(ATM):c.6976-5T>G
NM_000051.4(ATM):c.6976-7T>A rs2085807343
NM_000051.4(ATM):c.6976-9del rs2136372040
NM_000051.4(ATM):c.6979A>G (p.Asn2327Asp) rs2085809640
NM_000051.4(ATM):c.6982C>G (p.Pro2328Ala) rs769606850
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6986G>C (p.Ser2329Thr) rs2085810826
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6994C>G (p.Leu2332Val) rs762427092
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe) rs762427092
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg) rs4988111
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg) rs150503164
NM_000051.4(ATM):c.699A>T (p.Leu233Phe) rs1555067006
NM_000051.4(ATM):c.6T>A (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.7000T>A (p.Tyr2334Asn)
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.4(ATM):c.7001A>G (p.Tyr2334Cys) rs879254258
NM_000051.4(ATM):c.7003A>C (p.Thr2335Pro) rs1555120970
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg) rs2136374685
NM_000051.4(ATM):c.700G>T (p.Ala234Ser)
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.4(ATM):c.7010G>T (p.Cys2337Phe)
NM_000051.4(ATM):c.7011T>G (p.Cys2337Trp) rs878853536
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile) rs876659429
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
NM_000051.4(ATM):c.7024G>A (p.Gly2342Ser) rs1555121015
NM_000051.4(ATM):c.7024G>T (p.Gly2342Cys) rs1555121015
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val) rs1555121048
NM_000051.4(ATM):c.7034T>C (p.Leu2345Ser) rs2136376523
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7036G>C (p.Ala2346Pro) rs144497088
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7039_7041dup (p.Glu2347_Thr2348insGlu) rs2085819624
NM_000051.4(ATM):c.703G>C (p.Ala235Pro) rs76379269
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met) rs866740291
NM_000051.4(ATM):c.7046G>T (p.Cys2349Phe) rs1223489931
NM_000051.4(ATM):c.7052A>G (p.Glu2351Gly) rs1591142696
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr) rs1591142717
NM_000051.4(ATM):c.7057C>G (p.Pro2353Ala) rs1591142717
NM_000051.4(ATM):c.7058C>G (p.Pro2353Arg)
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu) rs2136377844
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr) rs1591142727
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu) rs1555121079
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp) rs1197214197
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val) rs876658517
NM_000051.4(ATM):c.7067T>C (p.Ile2356Thr)
NM_000051.4(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.4(ATM):c.706C>T (p.Leu236Phe) rs886042866
NM_000051.4(ATM):c.7070T>A (p.Met2357Lys)
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr) rs1591142855
NM_000051.4(ATM):c.7070_7072dup (p.Met2357_Gln2358insLeu) rs1591142874
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7074G>T (p.Gln2358His) rs1060501593
NM_000051.4(ATM):c.7075A>T (p.Thr2359Ser) rs2136378938
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn) rs730881314
NM_000051.4(ATM):c.7076C>T (p.Thr2359Ile) rs730881314
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys) rs1555121141
NM_000051.4(ATM):c.7079A>T (p.Tyr2360Phe)
NM_000051.4(ATM):c.707T>A (p.Leu236His) rs876659813
NM_000051.4(ATM):c.707T>G (p.Leu236Arg) rs876659813
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile) rs1412288141
NM_000051.4(ATM):c.7081C>G (p.Leu2361Val) rs1412288141
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.7085A>G (p.Glu2362Gly) rs1479883295
NM_000051.4(ATM):c.7089+3A>G rs1565524203
NM_000051.4(ATM):c.7089+4A>C rs2136380076
NM_000051.4(ATM):c.7089+5G>A rs1351209504
NM_000051.4(ATM):c.7089+5G>T
NM_000051.4(ATM):c.7090-13T>A
NM_000051.4(ATM):c.7090-6_7090-5del rs2136409409
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
NM_000051.4(ATM):c.7093G>A (p.Val2365Ile) rs1591150377
NM_000051.4(ATM):c.7094T>A (p.Val2365Glu) rs2136410055
NM_000051.4(ATM):c.7096G>A (p.Glu2366Lys) rs587781672
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu) rs1060501647
NM_000051.4(ATM):c.709A>T (p.Thr237Ser) rs376529329
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)
NM_000051.4(ATM):c.7102G>T (p.Ala2368Ser)
NM_000051.4(ATM):c.7103C>G (p.Ala2368Gly) rs1591150471
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu) rs2085974792
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys) rs1565526394
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.4(ATM):c.7112ATG[1] (p.Asp2372del)
NM_000051.4(ATM):c.7115A>G (p.Asp2372Gly) rs2085976203
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.7122A>T (p.Glu2374Asp) rs376159946
NM_000051.4(ATM):c.7123A>C (p.Ser2375Arg) rs2085977071
NM_000051.4(ATM):c.7123A>G (p.Ser2375Gly) rs2085977071
NM_000051.4(ATM):c.7123AGT[1] (p.Ser2376del) rs1555121978
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn) rs1297882250
NM_000051.4(ATM):c.7129G>T (p.Asp2377Tyr) rs1555122008
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
NM_000051.4(ATM):c.713T>A (p.Ile238Asn) rs149116878
NM_000051.4(ATM):c.7145G>A (p.Gly2382Glu)
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr) rs1215010771
NM_000051.4(ATM):c.7156G>A (p.Ala2386Thr)
NM_000051.4(ATM):c.7157C>G (p.Ala2386Gly) rs786203697
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7168_7170del (p.Leu2390del)
NM_000051.4(ATM):c.7169T>C (p.Leu2390Ser)
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr) rs2136415110
NM_000051.4(ATM):c.7172C>T (p.Ala2391Val) rs2085981550
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln) rs876659083
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro) rs876659083
NM_000051.4(ATM):c.7175G>T (p.Arg2392Leu) rs876659083
NM_000051.4(ATM):c.7177T>C (p.Phe2393Leu)
NM_000051.4(ATM):c.7178T>C (p.Phe2393Ser)
NM_000051.4(ATM):c.7178T>G (p.Phe2393Cys) rs1555122073
NM_000051.4(ATM):c.7179T>A (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7179T>G (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7183G>A (p.Asp2395Asn) rs2085983049
NM_000051.4(ATM):c.7184A>G (p.Asp2395Gly) rs1555122090
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7190A>C (p.Gln2397Pro) rs1060501592
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg) rs1060501592
NM_000051.4(ATM):c.7190A>T (p.Gln2397Leu) rs1060501592
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys) rs1591151173
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys) rs2085985186
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg) rs1565526758
NM_000051.4(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.4(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.4(ATM):c.72+3A>C rs2135007098
NM_000051.4(ATM):c.72+4G>A rs1458884973
NM_000051.4(ATM):c.7200A>G (p.Arg2400=) rs1060501534
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val) rs1565526813
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7204G>C (p.Glu2402Gln)
NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7213A>T (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.4(ATM):c.7217A>G (p.Lys2406Arg)
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.7222T>A (p.Ser2408Thr)
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7228T>G (p.Phe2410Val)
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu) rs1565527030
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7238A>G (p.Lys2413Arg)
NM_000051.4(ATM):c.7239G>T (p.Lys2413Asn) rs1555122182
NM_000051.4(ATM):c.7241A>G (p.Gln2414Arg)
NM_000051.4(ATM):c.7242A>T (p.Gln2414His) rs761907546
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.4(ATM):c.7246C>T (p.Leu2416Phe) rs1060501615
NM_000051.4(ATM):c.724A>G (p.Thr242Ala) rs1555067068
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro) rs1591151788
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.4(ATM):c.725C>A (p.Thr242Asn) rs2135238871
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu) rs1555122220
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg) rs1360453074
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys) rs1555122245
NM_000051.4(ATM):c.7268A>C (p.Glu2423Ala)
NM_000051.4(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000051.4(ATM):c.7269A>C (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7271T>A (p.Val2424Glu) rs28904921
NM_000051.4(ATM):c.7271T>C (p.Val2424Ala) rs28904921
NM_000051.4(ATM):c.7274G>A (p.Gly2425Asp) rs148949644
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.4(ATM):c.7276C>T (p.Leu2426Phe)
NM_000051.4(ATM):c.7277T>C (p.Leu2426Pro) rs1591152164
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro) rs1555122272
NM_000051.4(ATM):c.7280T>G (p.Leu2427Arg) rs1555122272
NM_000051.4(ATM):c.7282A>G (p.Arg2428Gly) rs1555122281
NM_000051.4(ATM):c.7283G>A (p.Arg2428Lys) rs2085999795
NM_000051.4(ATM):c.7288C>A (p.His2430Asn) rs2086000435
NM_000051.4(ATM):c.7288C>G (p.His2430Asp) rs2086000435
NM_000051.4(ATM):c.7288C>T (p.His2430Tyr) rs2086000435
NM_000051.4(ATM):c.7289A>C (p.His2430Pro)
NM_000051.4(ATM):c.7289A>T (p.His2430Leu)
NM_000051.4(ATM):c.7290T>A (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7292A>T (p.Lys2431Ile)
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val) rs587781838
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.4(ATM):c.7295T>A (p.Ile2432Asn) rs2086001580
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu) rs1591152450
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.73-3del rs1565344403
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile) rs2136423951
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp) rs1555122326
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.4(ATM):c.7307+13C>G
NM_000051.4(ATM):c.7307+3A>C rs1565527512
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7307+4A>T rs730881316
NM_000051.4(ATM):c.7307+5C>A
NM_000051.4(ATM):c.7307+5C>T rs2086005523
NM_000051.4(ATM):c.7307+6T>A rs2136424824
NM_000051.4(ATM):c.7307+8G>A
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.7308-6T>C rs574836628
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7309T>A (p.Tyr2437Asn) rs1565529213
NM_000051.4(ATM):c.7309T>C (p.Tyr2437His) rs1565529213
NM_000051.4(ATM):c.730G>A (p.Ala244Thr) rs2079760518
NM_000051.4(ATM):c.730G>C (p.Ala244Pro) rs2079760518
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys) rs1555122944
NM_000051.4(ATM):c.7310A>T (p.Tyr2437Phe)
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.4(ATM):c.7312A>G (p.Thr2438Ala)
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys) rs147604227
NM_000051.4(ATM):c.7313C>G (p.Thr2438Arg) rs147604227
NM_000051.4(ATM):c.7315G>C (p.Val2439Leu) rs1591159702
NM_000051.4(ATM):c.7316T>G (p.Val2439Gly) rs776266049
NM_000051.4(ATM):c.7316_7317insTAT (p.Val2439_Lys2440insIle) rs2086111568
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.4(ATM):c.7320G>T (p.Lys2440Asn) rs751537332
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe) rs876659556
NM_000051.4(ATM):c.7322T>A (p.Val2441Asp)
NM_000051.4(ATM):c.7322T>G (p.Val2441Gly) rs765548443
NM_000051.4(ATM):c.7323_7334del (p.Gln2442_Leu2445del)
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg) rs1591159790
NM_000051.4(ATM):c.7326G>C (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7326G>T (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7327C>G (p.Arg2443Gly) rs121434220
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro) rs587782310
NM_000051.4(ATM):c.7328G>T (p.Arg2443Leu) rs587782310
NM_000051.4(ATM):c.7328_7331inv (p.Arg2443_Glu2444delinsLeuSer)
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys) rs2136453151
NM_000051.4(ATM):c.7331A>C (p.Glu2444Ala) rs879254245
NM_000051.4(ATM):c.7331A>G (p.Glu2444Gly) rs879254245
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln) rs1555122992
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro) rs1555122992
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.733G>A (p.Val245Ile) rs1555067081
NM_000051.4(ATM):c.7340T>C (p.Leu2447Ser) rs2136453754
NM_000051.4(ATM):c.7340T>G (p.Leu2447Trp)
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7341G>T (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn) rs1591160022
NM_000051.4(ATM):c.7342G>C (p.Asp2448His) rs1591160022
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly) rs1275267580
NM_000051.4(ATM):c.7343A>T (p.Asp2448Val)
NM_000051.4(ATM):c.7345G>C (p.Glu2449Gln)
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala) rs1555123004
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly) rs1555123004
NM_000051.4(ATM):c.7347A>C (p.Glu2449Asp)
NM_000051.4(ATM):c.7348T>G (p.Leu2450Val) rs766586514
NM_000051.4(ATM):c.7349_7351del (p.Leu2450_Ala2451delinsSer)
NM_000051.4(ATM):c.7351G>A (p.Ala2451Thr) rs587779862
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.4(ATM):c.7351G>T (p.Ala2451Ser) rs587779862
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val) rs2086116043
NM_000051.4(ATM):c.7355T>A (p.Leu2452Gln) rs1555123032
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg) rs1555123032
NM_000051.4(ATM):c.7357_7365del (p.Arg2453_Leu2455del)
NM_000051.4(ATM):c.7358G>C (p.Arg2453Pro) rs587781361
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro) rs1565529541
NM_000051.4(ATM):c.7361C>A (p.Ala2454Glu) rs2086118064
NM_000051.4(ATM):c.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro) rs1555123056
NM_000051.4(ATM):c.7364T>G (p.Leu2455Arg) rs1555123056
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.4(ATM):c.7374T>A (p.Asp2458Glu)
NM_000051.4(ATM):c.7375C>A (p.Arg2459Ser) rs730881383
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.4(ATM):c.7376G>C (p.Arg2459Pro)
NM_000051.4(ATM):c.737A>C (p.Asn246Thr) rs781023264
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.7381C>G (p.Arg2461Gly)
NM_000051.4(ATM):c.7382G>C (p.Arg2461Pro) rs768461085
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val) rs878853543
NM_000051.4(ATM):c.7386C>G (p.Phe2462Leu) rs2136456889
NM_000051.4(ATM):c.7389A>T (p.Leu2463Phe)
NM_000051.4(ATM):c.7390T>G (p.Cys2464Gly) rs55801750
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
NM_000051.4(ATM):c.7395A>G (p.Lys2465=) rs2086122414
NM_000051.4(ATM):c.7397C>T (p.Ala2466Val)
NM_000051.4(ATM):c.739T>A (p.Phe247Ile) rs2135239339
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
NM_000051.4(ATM):c.7400T>C (p.Val2467Ala) rs1591160606
NM_000051.4(ATM):c.7402G>C (p.Glu2468Gln)
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys) rs878853544
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7412T>G (p.Ile2471Ser) rs1591160703
NM_000051.4(ATM):c.7414A>T (p.Asn2472Tyr)
NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser) rs1565529851
NM_000051.4(ATM):c.7418G>C (p.Cys2473Ser)
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser) rs2136458920
NM_000051.4(ATM):c.7422A>T (p.Leu2474Phe) rs1591160792
NM_000051.4(ATM):c.7424T>C (p.Leu2475Ser) rs1224883896
NM_000051.4(ATM):c.7427G>A (p.Ser2476Asn) rs1591160841
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.7430G>C (p.Gly2477Ala) rs2136459422
NM_000051.4(ATM):c.7430_7432del (p.Gly2477del)
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr) rs1029740910
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7441G>A (p.Asp2481Asn) rs2086127903
NM_000051.4(ATM):c.7442A>G (p.Asp2481Gly) rs2086128087
NM_000051.4(ATM):c.7444A>G (p.Met2482Val) rs951373716
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu) rs951373716
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile) rs2136460286
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg) rs1591161080
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu) rs587779864
NM_000051.4(ATM):c.7453T>G (p.Phe2485Val) rs2136460721
NM_000051.4(ATM):c.7456C>G (p.Arg2486Gly) rs587779865
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.4(ATM):c.7457G>C (p.Arg2486Pro)
NM_000051.4(ATM):c.7457G>T (p.Arg2486Leu)
NM_000051.4(ATM):c.745A>G (p.Ile249Val) rs1060501636
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe) rs774281788
NM_000051.4(ATM):c.7464T>G (p.Cys2488Trp) rs1555123227
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr) rs759728261
NM_000051.4(ATM):c.7469T>A (p.Leu2490His)
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys) rs1555123257
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe) rs1555123259
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)
NM_000051.4(ATM):c.7486G>A (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7486G>C (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.4(ATM):c.7491_7499del (p.Ser2498_Val2500del) rs1064796307
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.4(ATM):c.7499T>G (p.Val2500Gly) rs779810877
NM_000051.4(ATM):c.749G>C (p.Arg250Pro) rs56123940
NM_000051.4(ATM):c.74A>G (p.Lys25Arg) rs751310537
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys) rs1591161664
NM_000051.4(ATM):c.7505G>T (p.Gly2502Val) rs754517317
NM_000051.4(ATM):c.7506C>T (p.Gly2502=)
NM_000051.4(ATM):c.7507A>G (p.Met2503Val) rs780931855
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.7511T>A (p.Met2504Lys) rs1060501644
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+4A>G rs1565530434
NM_000051.4(ATM):c.7515+4del rs2136465168
NM_000051.4(ATM):c.7515+5G>A rs1555123361
NM_000051.4(ATM):c.7515+5_7515+7del rs2136465391
NM_000051.4(ATM):c.7515+6T>C rs1250327887
NM_000051.4(ATM):c.7515G>A (p.Lys2505=)
NM_000051.4(ATM):c.7516-5G>A rs1057520837
NM_000051.4(ATM):c.7517G>A (p.Arg2506Lys) rs1555123920
NM_000051.4(ATM):c.7519G>C (p.Asp2507His) rs2136491059
NM_000051.4(ATM):c.751G>A (p.Val251Met) rs1057519145
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu) rs751234924
NM_000051.4(ATM):c.7525A>T (p.Met2509Leu) rs979101125
NM_000051.4(ATM):c.7527G>A (p.Met2509Ile) rs1060501579
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)
NM_000051.4(ATM):c.752T>C (p.Val251Ala) rs1591503977
NM_000051.4(ATM):c.752T>G (p.Val251Gly) rs1591503977
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr) rs1565532052
NM_000051.4(ATM):c.7534C>T (p.Pro2512Ser) rs1565532052
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala) rs1480066803
NM_000051.4(ATM):c.7538C>G (p.Thr2513Arg) rs2136492214
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His) rs1555123985
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys) rs1555123994
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu) rs1555124004
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr) rs1591167340
NM_000051.4(ATM):c.7552C>A (p.Pro2518Thr)
NM_000051.4(ATM):c.7553C>A (p.Pro2518His) rs879254136
NM_000051.4(ATM):c.7555C>A (p.Leu2519Ile) rs1555124019
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val) rs1555124019
NM_000051.4(ATM):c.7556T>C (p.Leu2519Pro) rs2136493486
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7559T>C (p.Met2520Thr)
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7561T>G (p.Tyr2521Asp) rs2136493941
NM_000051.4(ATM):c.7562A>C (p.Tyr2521Ser)
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.4(ATM):c.7562A>T (p.Tyr2521Phe)
NM_000051.4(ATM):c.7564C>G (p.Gln2522Glu) rs1591167598
NM_000051.4(ATM):c.7565A>C (p.Gln2522Pro)
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg) rs1555124039
NM_000051.4(ATM):c.7566A>C (p.Gln2522His)
NM_000051.4(ATM):c.7566A>T (p.Gln2522His) rs775621333
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr) rs769142993
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val) rs876660663
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe) rs1555124054
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly) rs1591167721
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.4(ATM):c.7579A>G (p.Met2527Val)
NM_000051.4(ATM):c.757G>A (p.Glu253Lys) rs2135239944
NM_000051.4(ATM):c.7581G>A (p.Met2527Ile) rs2086230646
NM_000051.4(ATM):c.7588A>G (p.Lys2530Glu) rs2086231222
NM_000051.4(ATM):c.758A>G (p.Glu253Gly) rs2079763142
NM_000051.4(ATM):c.7592T>G (p.Met2531Arg) rs587781365
NM_000051.4(ATM):c.7594A>G (p.Met2532Val) rs2136496697
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr) rs765654550
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7597G>A (p.Gly2533Arg)
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.7607G>C (p.Gly2536Ala) rs2136497972
NM_000051.4(ATM):c.7609T>C (p.Phe2537Leu) rs2086234277
NM_000051.4(ATM):c.7613A>G (p.His2538Arg)
NM_000051.4(ATM):c.7614T>G (p.His2538Gln) rs2086234461
NM_000051.4(ATM):c.7616A>G (p.Glu2539Gly)
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp) rs1591168001
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe) rs1565532615
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser) rs2086236181
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys) rs1555124134
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7629+2dup rs1555124141
NM_000051.4(ATM):c.7629+3A>C rs752251778
NM_000051.4(ATM):c.7630-12_7630-11del
NM_000051.4(ATM):c.7630-16A>C
NM_000051.4(ATM):c.7630-17_7630-16del
NM_000051.4(ATM):c.7630-7C>A rs730881276
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.4(ATM):c.7639A>G (p.Arg2547Gly) rs1565533544
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile) rs2136515485
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu) rs878853545
NM_000051.4(ATM):c.764_766del (p.Gly255del) rs766716803
NM_000051.4(ATM):c.7650G>T (p.Met2550Ile) rs1565533594
NM_000051.4(ATM):c.7651G>A (p.Asp2551Asn) rs2086287943
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7654C>A (p.His2552Asn) rs786202174
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr) rs786202174
NM_000051.4(ATM):c.7655A>G (p.His2552Arg)
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr) rs1555124475
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)
NM_000051.4(ATM):c.7657C>T (p.Pro2553Ser)
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu) rs864622368
NM_000051.4(ATM):c.7660C>T (p.His2554Tyr) rs1555124482
NM_000051.4(ATM):c.7661A>G (p.His2554Arg) rs1555124487
NM_000051.4(ATM):c.7661A>T (p.His2554Leu) rs1555124487
NM_000051.4(ATM):c.7663C>A (p.His2555Asn) rs786203651
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn) rs1226186392
NM_000051.4(ATM):c.7667C>G (p.Thr2556Ser)
NM_000051.4(ATM):c.766G>A (p.Asp256Asn) rs2079764061
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr) rs2079764061
NM_000051.4(ATM):c.7671G>C (p.Leu2557Phe) rs2086293337
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del) rs1591171617
NM_000051.4(ATM):c.7674_7686delinsA (p.Phe2558_Ala2562delinsLeu) rs2086293945
NM_000051.4(ATM):c.7679T>A (p.Ile2560Lys)
NM_000051.4(ATM):c.7679T>C (p.Ile2560Thr) rs2086294390
NM_000051.4(ATM):c.7679T>G (p.Ile2560Arg)
NM_000051.4(ATM):c.767A>G (p.Asp256Gly) rs907941927
NM_000051.4(ATM):c.767A>T (p.Asp256Val) rs907941927
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser) rs1555124521
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7685C>G (p.Ala2562Gly) rs1322308382
NM_000051.4(ATM):c.7687T>A (p.Leu2563Ile) rs1208002418
NM_000051.4(ATM):c.7688T>C (p.Leu2563Ser) rs2136520333
NM_000051.4(ATM):c.7690G>C (p.Ala2564Pro) rs940285361
NM_000051.4(ATM):c.7691C>T (p.Ala2564Val)
NM_000051.4(ATM):c.7693A>G (p.Asn2565Asp) rs1555124543
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7697C>G (p.Ala2566Gly) rs2086297257
NM_000051.4(ATM):c.769G>C (p.Glu257Gln) rs1565371596
NM_000051.4(ATM):c.7702A>G (p.Arg2568Gly) rs2086298156
NM_000051.4(ATM):c.7703G>A (p.Arg2568Lys) rs1591171915
NM_000051.4(ATM):c.7703G>C (p.Arg2568Thr)
NM_000051.4(ATM):c.7704A>T (p.Arg2568Ser) rs2136521869
NM_000051.4(ATM):c.7705G>A (p.Asp2569Asn) rs898880638
NM_000051.4(ATM):c.7705G>C (p.Asp2569His) rs898880638
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)
NM_000051.4(ATM):c.7723C>T (p.Pro2575Ser)
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln) rs1591172186
NM_000051.4(ATM):c.7732G>A (p.Ala2578Thr) rs1555124632
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.4(ATM):c.7737AAG[1] (p.Arg2580del) rs1064795204
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile) rs761790685
NM_000051.4(ATM):c.7743C>A (p.Ser2581Arg) rs2086306575
NM_000051.4(ATM):c.7746A>T (p.Arg2582Ser)
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)
NM_000051.4(ATM):c.7748T>A (p.Ile2583Lys) rs2086307984
NM_000051.4(ATM):c.7753A>G (p.Lys2585Glu) rs2086308918
NM_000051.4(ATM):c.7758T>G (p.Asn2586Lys) rs2136526693
NM_000051.4(ATM):c.7759G>A (p.Val2587Met) rs1285491916
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu) rs876659557
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg) rs878853546
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu) rs876659561
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg) rs1555124706
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
NM_000051.4(ATM):c.7770A>C (p.Gln2590His)
NM_000051.4(ATM):c.7771A>C (p.Ser2591Arg) rs2086312114
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn) rs730881319
NM_000051.4(ATM):c.7775C>T (p.Ser2592Phe)
NM_000051.4(ATM):c.7779G>C (p.Gln2593His)
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.4(ATM):c.7788+4T>C rs2136529910
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-15_7789-9del
NM_000051.4(ATM):c.7789-19_7789-16del
NM_000051.4(ATM):c.7789-22_7789-18del
NM_000051.4(ATM):c.7789-3T>C
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789G>C (p.Asp2597His) rs1555125212
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.778C>A (p.Pro260Thr) rs863224581
NM_000051.4(ATM):c.778C>G (p.Pro260Ala) rs863224581
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile) rs2086404569
NM_000051.4(ATM):c.7798G>A (p.Glu2600Lys) rs2086405495
NM_000051.4(ATM):c.779C>A (p.Pro260His) rs961262202
NM_000051.4(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.4(ATM):c.77A>G (p.Glu26Gly) rs1555054052
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr) rs1555125227
NM_000051.4(ATM):c.7807A>G (p.Asn2603Asp) rs1591178124
NM_000051.4(ATM):c.7807A>T (p.Asn2603Tyr)
NM_000051.4(ATM):c.7809T>A (p.Asn2603Lys)
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del) rs786203830
NM_000051.4(ATM):c.7814T>C (p.Ile2605Thr) rs2136562632
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.4(ATM):c.7819T>G (p.Cys2607Gly) rs1459650575
NM_000051.4(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.4(ATM):c.7822A>G (p.Thr2608Ala) rs2086408912
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.7829G>C (p.Arg2610Thr) rs2136563969
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
NM_000051.4(ATM):c.7834A>G (p.Arg2612Gly)
NM_000051.4(ATM):c.7835G>A (p.Arg2612Lys) rs138048269
NM_000051.4(ATM):c.7836G>C (p.Arg2612Ser) rs761324887
NM_000051.4(ATM):c.7839A>T (p.Arg2613Ser)
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.4(ATM):c.7841C>A (p.Pro2614His) rs769207177
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu) rs769207177
NM_000051.4(ATM):c.7845G>T (p.Gln2615His)
NM_000051.4(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.4(ATM):c.7850T>A (p.Val2617Asp)
NM_000051.4(ATM):c.7850T>G (p.Val2617Gly)
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly) rs1057521185
NM_000051.4(ATM):c.7853G>A (p.Arg2618Lys)
NM_000051.4(ATM):c.7854A>C (p.Arg2618Ser) rs1565536250
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly) rs2086416652
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe) rs1427723678
NM_000051.4(ATM):c.7859T>C (p.Val2620Ala)
NM_000051.4(ATM):c.785T>C (p.Leu262Ser) rs864622163
NM_000051.4(ATM):c.785T>G (p.Leu262Trp) rs864622163
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.4(ATM):c.7864G>A (p.Ala2622Thr) rs2136567791
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile) rs774118570
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val) rs774118570
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala) rs876660121
NM_000051.4(ATM):c.7874A>G (p.Asp2625Gly) rs876660121
NM_000051.4(ATM):c.7876G>A (p.Ala2626Thr)
NM_000051.4(ATM):c.7877C>G (p.Ala2626Gly)
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.4(ATM):c.7880A>C (p.Tyr2627Ser)
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu) rs587781370
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val) rs587781370
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val) rs2136569929
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile) rs1555125427
NM_000051.4(ATM):c.7888T>G (p.Leu2630Val) rs1555125427
NM_000051.4(ATM):c.788T>A (p.Leu263His) rs2079765536
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys) rs1591179036
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val) rs876660909
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.790T>C (p.Tyr264His)
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
NM_000051.4(ATM):c.7911G>T (p.Gln2637His) rs2136572151
NM_000051.4(ATM):c.7916A>G (p.Lys2639Arg)
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn) rs1555125501
NM_000051.4(ATM):c.7918A>C (p.Thr2640Pro)
NM_000051.4(ATM):c.7921C>G (p.Gln2641Glu) rs769523686
NM_000051.4(ATM):c.7924A>G (p.Arg2642Gly)
NM_000051.4(ATM):c.7926A>G (p.Arg2642=)
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+1_7927+2dup rs2086432329
NM_000051.4(ATM):c.7927+3A>G
NM_000051.4(ATM):c.7927+4del rs2086433771
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.7927+5G>C rs1299306446
NM_000051.4(ATM):c.7927+5G>T rs1299306446
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7927+6T>G rs1591179460
NM_000051.4(ATM):c.7928-10T>G rs188404773
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7928-8A>G rs2086542058
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser) rs587781897
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg) rs587781897
NM_000051.4(ATM):c.7930G>T (p.Gly2644Cys) rs587781897
NM_000051.4(ATM):c.7932C>T (p.Gly2644=) rs2136610997
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.4(ATM):c.7936A>C (p.Asn2646His) rs1060501575
NM_000051.4(ATM):c.7937A>G (p.Asn2646Ser)
NM_000051.4(ATM):c.7939A>G (p.Ile2647Val)
NM_000051.4(ATM):c.793A>G (p.Ile265Val) rs587781973
NM_000051.4(ATM):c.7941T>G (p.Ile2647Met)
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7942C>G (p.Pro2648Ala) rs878853547
NM_000051.4(ATM):c.7942C>T (p.Pro2648Ser) rs878853547
NM_000051.4(ATM):c.7943C>T (p.Pro2648Leu)
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
NM_000051.4(ATM):c.7949A>C (p.Asp2650Ala) rs1060501635
NM_000051.4(ATM):c.7949A>G (p.Asp2650Gly)
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu) rs1060504298
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.4(ATM):c.7951C>G (p.Gln2651Glu) rs587781994
NM_000051.4(ATM):c.7955C>T (p.Pro2652Leu) rs1565538433
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del) rs1555126226
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala) rs2136613550
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser) rs786203621
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile) rs786203621
NM_000051.4(ATM):c.7963A>G (p.Lys2655Glu)
NM_000051.4(ATM):c.7964A>C (p.Lys2655Thr) rs2086549249
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe) rs1591184384
NM_000051.4(ATM):c.7967T>G (p.Leu2656Arg) rs121434218
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
NM_000051.4(ATM):c.7969A>G (p.Lys2657Glu) rs755706903
NM_000051.4(ATM):c.7972A>T (p.Asn2658Tyr) rs2086550573
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del) rs2086551461
NM_000051.4(ATM):c.7978G>A (p.Glu2660Lys)
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.4(ATM):c.7987G>C (p.Val2663Leu)
NM_000051.4(ATM):c.7987G>T (p.Val2663Phe)
NM_000051.4(ATM):c.798G>T (p.Trp266Cys) rs2079766417
NM_000051.4(ATM):c.7990G>T (p.Val2664Phe) rs2086554329
NM_000051.4(ATM):c.7991T>G (p.Val2664Gly)
NM_000051.4(ATM):c.7991_8010+8dup rs1555126295
NM_000051.4(ATM):c.7994C>A (p.Pro2665His) rs1591184690
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu) rs1591184690
NM_000051.4(ATM):c.7996A>C (p.Thr2666Pro) rs745775382
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu) rs34099398
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.79G>C (p.Val27Leu) rs754770960
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.8001G>A (p.Met2667Ile) rs1591184841
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys) rs772097933
NM_000051.4(ATM):c.8002G>C (p.Glu2668Gln) rs772097933
NM_000051.4(ATM):c.8008A>G (p.Lys2670Glu) rs2086557212
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
NM_000051.4(ATM):c.8010+3A>T
NM_000051.4(ATM):c.8010+5T>C rs56256497
NM_000051.4(ATM):c.8010+6T>C rs2086559039
NM_000051.4(ATM):c.8010+6T>G
NM_000051.4(ATM):c.8011-10C>G rs1555127008
NM_000051.4(ATM):c.8011-4T>G rs2086667288
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8011-9T>A
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8015A>G (p.Asp2672Gly) rs763161651
NM_000051.4(ATM):c.8015A>T (p.Asp2672Val)
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr) rs1555127035
NM_000051.4(ATM):c.8021C>T (p.Thr2674Ile)
NM_000051.4(ATM):c.8024G>A (p.Gly2675Glu)
NM_000051.4(ATM):c.8027A>G (p.Glu2676Gly)
NM_000051.4(ATM):c.8027A>T (p.Glu2676Val) rs2136653996
NM_000051.4(ATM):c.8028A>C (p.Glu2676Asp)
NM_000051.4(ATM):c.8035A>G (p.Asn2679Asp)
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met) rs2086671863
NM_000051.4(ATM):c.8041G>A (p.Val2681Met) rs1064795034
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.4(ATM):c.8042T>G (p.Val2681Gly)
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro) rs730881320
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala) rs730881320
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
NM_000051.4(ATM):c.8049A>G (p.Ile2683Met) rs1292192410
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.4(ATM):c.8052G>C (p.Gln2684His)
NM_000051.4(ATM):c.8053T>C (p.Ser2685Pro)
NM_000051.4(ATM):c.8054C>T (p.Ser2685Leu)
NM_000051.4(ATM):c.8057T>C (p.Phe2686Ser)
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.8062G>C (p.Ala2688Pro)
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8068T>G (p.Phe2690Val) rs2086677473
NM_000051.4(ATM):c.8069T>G (p.Phe2690Cys) rs2086677926
NM_000051.4(ATM):c.806A>G (p.His269Arg) rs1565371740
NM_000051.4(ATM):c.806A>T (p.His269Leu)
NM_000051.4(ATM):c.8071C>A (p.Arg2691Ser) rs531980488
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly) rs531980488
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro) rs876658385
NM_000051.4(ATM):c.8072G>T (p.Arg2691Leu) rs876658385
NM_000051.4(ATM):c.8073C>G (p.Arg2691=) rs1215882325
NM_000051.4(ATM):c.8077G>A (p.Ala2693Thr) rs2086679024
NM_000051.4(ATM):c.8077G>C (p.Ala2693Pro)
NM_000051.4(ATM):c.8078C>A (p.Ala2693Glu) rs2136659025
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.807T>G (p.His269Gln) rs2135241561
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg) rs1555127157
NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala) rs2086679689
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg) rs1555127166
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys) rs1555127166
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala) rs1060501680
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val) rs1060501680
NM_000051.4(ATM):c.8086G>A (p.Val2696Ile) rs989577687
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala) rs1591191762
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.4(ATM):c.8089A>T (p.Asn2697Tyr) rs1555127177
NM_000051.4(ATM):c.808A>G (p.Arg270Gly) rs2135241589
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser) rs2136660129
NM_000051.4(ATM):c.8093T>C (p.Leu2698Ser) rs2136660259
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser) rs2086682194
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8099A>C (p.Lys2700Thr)
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.80T>A (p.Val27Asp) rs2078817440
NM_000051.4(ATM):c.80T>C (p.Val27Ala) rs2078817440
NM_000051.4(ATM):c.8100A>T (p.Lys2700Asn) rs778601472
NM_000051.4(ATM):c.8101A>C (p.Ile2701Leu)
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met) rs2086684779
NM_000051.4(ATM):c.8107G>A (p.Asp2703Asn) rs1555127236
NM_000051.4(ATM):c.8108A>T (p.Asp2703Val) rs1565541059
NM_000051.4(ATM):c.810G>C (p.Arg270Ser) rs1565371772
NM_000051.4(ATM):c.8111G>A (p.Cys2704Tyr) rs1555127249
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8116G>T (p.Gly2706Cys) rs2136662430
NM_000051.4(ATM):c.8117G>T (p.Gly2706Val)
NM_000051.4(ATM):c.8119T>A (p.Ser2707Thr) rs1555127276
NM_000051.4(ATM):c.811C>G (p.Leu271Val) rs730881339
NM_000051.4(ATM):c.811C>T (p.Leu271Phe) rs730881339
NM_000051.4(ATM):c.8120C>T (p.Ser2707Phe) rs748016261
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8123A>G (p.Asp2708Gly)
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser) rs3218680
NM_000051.4(ATM):c.8126G>C (p.Gly2709Ala) rs2086688845
NM_000051.4(ATM):c.8128A>G (p.Lys2710Glu)
NM_000051.4(ATM):c.8129A>T (p.Lys2710Met) rs587782001
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
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.8138G>T (p.Arg2713Ile) rs876659351
NM_000051.4(ATM):c.8139A>C (p.Arg2713Ser)
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys) rs1060501695
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8141A>G (p.Gln2714Arg) rs2086691196
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe) rs1591192429
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile) rs730881385
NM_000051.4(ATM):c.8148_8150dup (p.Val2716_Lys2717insAsn) rs2086692643
NM_000051.4(ATM):c.8149A>C (p.Lys2717Gln) rs774334667
NM_000051.4(ATM):c.8149A>G (p.Lys2717Glu) rs774334667
NM_000051.4(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr) rs1555127353
NM_000051.4(ATM):c.8151+4A>T rs1294982909
NM_000051.4(ATM):c.8151+5G>A rs1555127370
NM_000051.4(ATM):c.8151+5G>C rs1555127370
NM_000051.4(ATM):c.8151+5G>T
NM_000051.4(ATM):c.8151+6C>T rs910779363
NM_000051.4(ATM):c.8151+7C>T rs2086695144
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-16C>G rs1555128173
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-8T>G rs752705487
NM_000051.4(ATM):c.8152G>A (p.Gly2718Ser) rs1060501689
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg) rs1060501689
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.4(ATM):c.8158G>C (p.Asp2720His) rs876659942
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly) rs745901025
NM_000051.4(ATM):c.815A>G (p.Asn272Ser) rs1555067189
NM_000051.4(ATM):c.815A>T (p.Asn272Ile) rs1555067189
NM_000051.4(ATM):c.8160T>A (p.Asp2720Glu)
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8161G>C (p.Asp2721His) rs876659066
NM_000051.4(ATM):c.8161G>T (p.Asp2721Tyr) rs876659066
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val) rs1555128280
NM_000051.4(ATM):c.8163C>A (p.Asp2721Glu) rs1305816583
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val) rs587782399
NM_000051.4(ATM):c.8164_8181del (p.Leu2722_Val2727del) rs1555128287
NM_000051.4(ATM):c.8165T>G (p.Leu2722Arg) rs2086784272
NM_000051.4(ATM):c.8167A>G (p.Arg2723Gly)
NM_000051.4(ATM):c.8168G>T (p.Arg2723Ile) rs1555128301
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys) rs2086784990
NM_000051.4(ATM):c.8170C>G (p.Gln2724Glu)
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg) rs1565543300
NM_000051.4(ATM):c.8173G>A (p.Asp2725Asn) rs587782049
NM_000051.4(ATM):c.8173G>T (p.Asp2725Tyr) rs587782049
NM_000051.4(ATM):c.8174A>C (p.Asp2725Ala)
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.4(ATM):c.8174A>T (p.Asp2725Val) rs1555128314
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu) rs1431188311
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.4(ATM):c.8180T>G (p.Val2727Gly) rs1565543359
NM_000051.4(ATM):c.8182A>T (p.Met2728Leu) rs1555128338
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu) rs587781967
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro) rs1555128350
NM_000051.4(ATM):c.8186A>G (p.Gln2729Arg)
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8188C>G (p.Gln2730Glu) rs587782317
NM_000051.4(ATM):c.8189A>G (p.Gln2730Arg) rs762154857
NM_000051.4(ATM):c.8189A>T (p.Gln2730Leu) rs762154857
NM_000051.4(ATM):c.8190G>C (p.Gln2730His) rs2086788941
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile) rs1215175886
NM_000051.4(ATM):c.8191G>C (p.Val2731Leu)
NM_000051.4(ATM):c.8192T>A (p.Val2731Asp)
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala) rs2086789387
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly) rs2086789387
NM_000051.4(ATM):c.8194T>A (p.Phe2732Ile) rs876659619
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8195T>C (p.Phe2732Ser) rs2086790430
NM_000051.4(ATM):c.8198A>C (p.Gln2733Pro)
NM_000051.4(ATM):c.8198A>G (p.Gln2733Arg) rs1591198624
NM_000051.4(ATM):c.8199G>C (p.Gln2733His) rs770552705
NM_000051.4(ATM):c.8201T>C (p.Met2734Thr) rs2136695452
NM_000051.4(ATM):c.8202G>A (p.Met2734Ile) rs2086792007
NM_000051.4(ATM):c.8204G>T (p.Cys2735Phe)
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp) rs1060501577
NM_000051.4(ATM):c.8206A>T (p.Asn2736Tyr) rs1060501577
NM_000051.4(ATM):c.820T>G (p.Ser274Ala) rs2079767927
NM_000051.4(ATM):c.8210C>G (p.Thr2737Arg) rs2086793204
NM_000051.4(ATM):c.8210C>T (p.Thr2737Ile) rs2086793204
NM_000051.4(ATM):c.8214A>C (p.Leu2738Phe) rs2136696989
NM_000051.4(ATM):c.821C>A (p.Ser274Tyr)
NM_000051.4(ATM):c.821C>G (p.Ser274Cys) rs1591504377
NM_000051.4(ATM):c.821C>T (p.Ser274Phe) rs1591504377
NM_000051.4(ATM):c.8230G>A (p.Glu2744Lys)
NM_000051.4(ATM):c.8231A>G (p.Glu2744Gly)
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile) rs786203094
NM_000051.4(ATM):c.8236A>G (p.Arg2746Gly) rs2136698373
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
NM_000051.4(ATM):c.8243G>A (p.Arg2748Lys) rs75305387
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile) rs876658559
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala) rs2086799919
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser) rs2086800136
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)
NM_000051.4(ATM):c.8254A>T (p.Ile2752Phe)
NM_000051.4(ATM):c.8256C>G (p.Ile2752Met) rs1555128574
NM_000051.4(ATM):c.8257T>C (p.Cys2753Arg)
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe) rs1284049490
NM_000051.4(ATM):c.825A>T (p.Leu275Phe) rs2135242080
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)
NM_000051.4(ATM):c.8266A>G (p.Lys2756Glu) rs371638537
NM_000051.4(ATM):c.8268+4A>G rs2086804691
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.8269-7A>G rs2087803205
NM_000051.4(ATM):c.8269G>C (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.8269G>T (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.826A>C (p.Lys276Gln) rs587782902
NM_000051.4(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe) rs1555135373
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala) rs764906663
NM_000051.4(ATM):c.8276C>A (p.Pro2759His) rs2087807752
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu) rs2087807752
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe) rs758609900
NM_000051.4(ATM):c.8279T>C (p.Leu2760Pro) rs1060501578
NM_000051.4(ATM):c.8284C>G (p.Gln2762Glu) rs751574257
NM_000051.4(ATM):c.8287C>G (p.Arg2763Gly) rs876659872
NM_000051.4(ATM):c.8291G>C (p.Ser2764Thr)
NM_000051.4(ATM):c.8293G>T (p.Gly2765Cys) rs748634900
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8297T>G (p.Val2766Gly) rs1064796249
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.4(ATM):c.8300T>A (p.Leu2767His)
NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro) rs1591247825
NM_000051.4(ATM):c.8300T>G (p.Leu2767Arg) rs1591247825
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val) rs2136943134
NM_000051.4(ATM):c.8305T>C (p.Trp2769Arg) rs1591247945
NM_000051.4(ATM):c.8307G>C (p.Trp2769Cys)
NM_000051.4(ATM):c.8307G>T (p.Trp2769Cys) rs778269655
NM_000051.4(ATM):c.8308T>A (p.Cys2770Ser)
NM_000051.4(ATM):c.8308T>G (p.Cys2770Gly) rs749737164
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe) rs2087816795
NM_000051.4(ATM):c.830A>G (p.Glu277Gly) rs2079768905
NM_000051.4(ATM):c.8310C>G (p.Cys2770Trp) rs1555135544
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.4(ATM):c.8312C>G (p.Thr2771Arg)
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.4(ATM):c.8314_8316del (p.Gly2772del) rs2087818644
NM_000051.4(ATM):c.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala) rs775293524
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn) rs786203321
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile) rs786203321
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu) rs2087821053
NM_000051.4(ATM):c.8321T>C (p.Val2774Ala) rs776988084
NM_000051.4(ATM):c.8323C>T (p.Pro2775Ser) rs2087822375
NM_000051.4(ATM):c.8324C>G (p.Pro2775Arg)
NM_000051.4(ATM):c.8324C>T (p.Pro2775Leu) rs1591248275
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn) rs746475628
NM_000051.4(ATM):c.8327T>G (p.Ile2776Ser) rs746475628
NM_000051.4(ATM):c.8328T>G (p.Ile2776Met)
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser) rs2087823795
NM_000051.4(ATM):c.8329G>C (p.Gly2777Arg)
NM_000051.4(ATM):c.832G>A (p.Val278Ile) rs761005590
NM_000051.4(ATM):c.832G>T (p.Val278Phe) rs761005590
NM_000051.4(ATM):c.8330G>A (p.Gly2777Asp) rs879254240
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8332G>A (p.Glu2778Lys)
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8333A>T (p.Glu2778Val)
NM_000051.4(ATM):c.8339T>A (p.Leu2780His)
NM_000051.4(ATM):c.8339T>C (p.Leu2780Pro) rs2087825562
NM_000051.4(ATM):c.8341_8343del (p.Val2781del) rs1178661659
NM_000051.4(ATM):c.8342T>C (p.Val2781Ala)
NM_000051.4(ATM):c.8344A>G (p.Asn2782Asp) rs2136947170
NM_000051.4(ATM):c.8345A>G (p.Asn2782Ser) rs2136947221
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser) rs2087826921
NM_000051.4(ATM):c.834C>G (p.Val278=) rs2079769316
NM_000051.4(ATM):c.8350G>A (p.Glu2784Lys) rs1479612629
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly) rs1591248589
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val) rs1591248589
NM_000051.4(ATM):c.8356G>A (p.Gly2786Ser) rs1167044647
NM_000051.4(ATM):c.8356G>T (p.Gly2786Cys) rs1167044647
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr) rs1591248677
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)
NM_000051.4(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
NM_000051.4(ATM):c.8360C>G (p.Ala2787Gly) rs879253877
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8362C>A (p.His2788Asn)
NM_000051.4(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.4(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.4(ATM):c.8364T>G (p.His2788Gln) rs1591248749
NM_000051.4(ATM):c.8366A>G (p.Lys2789Arg) rs1591248788
NM_000051.4(ATM):c.8371T>A (p.Tyr2791Asn) rs1020805015
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys) rs534914490
NM_000051.4(ATM):c.8377C>A (p.Pro2793Thr) rs1174335574
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8380A>G (p.Asn2794Asp)
NM_000051.4(ATM):c.8382T>A (p.Asn2794Lys) rs1555135797
NM_000051.4(ATM):c.8383G>A (p.Asp2795Asn) rs1565558417
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.4(ATM):c.8384A>C (p.Asp2795Ala) rs2087834639
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu) rs1591249094
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly) rs761629908
NM_000051.4(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn) rs1203037698
NM_000051.4(ATM):c.8392G>T (p.Ala2798Ser) rs1591249178
NM_000051.4(ATM):c.8392_8393delinsTT (p.Ala2798Phe) rs2087837804
NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys) rs2136952226
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.4(ATM):c.8402G>T (p.Cys2801Phe) rs2136952675
NM_000051.4(ATM):c.8410A>C (p.Lys2804Gln) rs878853549
NM_000051.4(ATM):c.8410A>G (p.Lys2804Glu)
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
NM_000051.4(ATM):c.8415G>C (p.Met2805Ile)
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.4(ATM):c.8418+4A>C
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000051.4(ATM):c.8418+681A>G
NM_000051.4(ATM):c.8418+6T>C rs1555135928
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-11T>G
NM_000051.4(ATM):c.8419-6T>G
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.841G>A (p.Glu281Lys) rs1591504491
NM_000051.4(ATM):c.8421G>T (p.Glu2807Asp)
NM_000051.4(ATM):c.8422G>A (p.Val2808Met) rs876660616
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala) rs1359195708
NM_000051.4(ATM):c.8425C>G (p.Gln2809Glu) rs1555137973
NM_000051.4(ATM):c.8428A>G (p.Lys2810Glu) rs730881325
NM_000051.4(ATM):c.8429A>C (p.Lys2810Thr) rs1555137999
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.4(ATM):c.8434T>A (p.Ser2812Thr)
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro) rs786202372
NM_000051.4(ATM):c.8434T>G (p.Ser2812Ala) rs786202372
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr) rs1565563280
NM_000051.4(ATM):c.8435_8437del (p.Ser2812del) rs1591264086
NM_000051.4(ATM):c.8438_8449del (p.Phe2813_Lys2816del) rs2137025439
NM_000051.4(ATM):c.8440G>A (p.Glu2814Lys) rs2137025722
NM_000051.4(ATM):c.8440G>C (p.Glu2814Gln)
NM_000051.4(ATM):c.8443G>A (p.Glu2815Lys) rs1214616015
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.4(ATM):c.8449T>G (p.Tyr2817Asp)
NM_000051.4(ATM):c.8456T>C (p.Val2819Ala)
NM_000051.4(ATM):c.8456T>G (p.Val2819Gly) rs1565563392
NM_000051.4(ATM):c.8460C>A (p.Phe2820Leu) rs2137027437
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr) rs1555138065
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.4(ATM):c.8464G>A (p.Asp2822Asn) rs2088274235
NM_000051.4(ATM):c.8466T>A (p.Asp2822Glu) rs1057523224
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8471G>C (p.Cys2824Ser) rs876660927
NM_000051.4(ATM):c.8473C>G (p.Gln2825Glu) rs587781363
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser) rs1591264493
NM_000051.4(ATM):c.847T>G (p.Phe283Val) rs1591504549
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.8491T>G (p.Phe2831Val)
NM_000051.4(ATM):c.8492T>C (p.Phe2831Ser) rs1591264665
NM_000051.4(ATM):c.8494C>G (p.Arg2832Gly) rs587779872
NM_000051.4(ATM):c.849T>A (p.Phe283Leu) rs1060501617
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile) rs1591264768
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr) rs759655842
NM_000051.4(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr) rs1591264886
NM_000051.4(ATM):c.8508G>A (p.Met2836Ile)
NM_000051.4(ATM):c.8510A>G (p.Glu2837Gly)
NM_000051.4(ATM):c.8512A>C (p.Lys2838Gln) rs2088287574
NM_000051.4(ATM):c.8512A>G (p.Lys2838Glu)
NM_000051.4(ATM):c.8513A>G (p.Lys2838Arg) rs2088287946
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
NM_000051.4(ATM):c.8519T>C (p.Leu2840Ser) rs947497737
NM_000051.4(ATM):c.8521G>A (p.Asp2841Asn) rs786203013
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.4(ATM):c.8522A>T (p.Asp2841Val)
NM_000051.4(ATM):c.8523T>G (p.Asp2841Glu)
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu) rs879254065
NM_000051.4(ATM):c.8527G>T (p.Ala2843Ser) rs2137033579
NM_000051.4(ATM):c.8528C>T (p.Ala2843Val) rs1060501637
NM_000051.4(ATM):c.852A>T (p.Gln284His) rs140367473
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle) rs1555138275
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser) rs1591265172
NM_000051.4(ATM):c.8533T>C (p.Trp2845Arg) rs2137034127
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu) rs2137034202
NM_000051.4(ATM):c.8536T>A (p.Phe2846Ile) rs1591265229
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu) rs1591265229
NM_000051.4(ATM):c.8542A>G (p.Lys2848Glu) rs1565563932
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.4(ATM):c.854T>C (p.Leu285Pro) rs864622605
NM_000051.4(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.4(ATM):c.8550G>T (p.Leu2850Phe) rs1591265370
NM_000051.4(ATM):c.8554T>A (p.Tyr2852Asn)
NM_000051.4(ATM):c.8554T>C (p.Tyr2852His) rs1064794108
NM_000051.4(ATM):c.8554T>G (p.Tyr2852Asp)
NM_000051.4(ATM):c.8555A>G (p.Tyr2852Cys)
NM_000051.4(ATM):c.8558C>A (p.Thr2853Lys) rs141534716
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8558_8559insAAA (p.Thr2853_Arg2854insLys) rs2088301952
NM_000051.4(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.4(ATM):c.8561G>C (p.Arg2854Pro) rs1060501605
NM_000051.4(ATM):c.8564G>A (p.Ser2855Asn) rs2088303841
NM_000051.4(ATM):c.8567T>A (p.Val2856Glu) rs1060501649
NM_000051.4(ATM):c.8567T>C (p.Val2856Ala)
NM_000051.4(ATM):c.8569G>A (p.Ala2857Thr) rs1591265701
NM_000051.4(ATM):c.856C>A (p.Gln286Lys)
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly) rs2137037690
NM_000051.4(ATM):c.8573_8574insGAA (p.Thr2858_Ser2859insAsn) rs2088307936
NM_000051.4(ATM):c.8575T>A (p.Ser2859Thr) rs2088308600
NM_000051.4(ATM):c.8576C>G (p.Ser2859Cys) rs786203542
NM_000051.4(ATM):c.8578_8579delinsAT (p.Ser2860Ile)
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys) rs1158350157
NM_000051.4(ATM):c.857A>C (p.Gln286Pro) rs1591504622
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8583T>G (p.Ile2861Met) rs2137038817
NM_000051.4(ATM):c.8584+3A>G
NM_000051.4(ATM):c.8584+4A>G rs1555138484
NM_000051.4(ATM):c.8584+5T>A
NM_000051.4(ATM):c.8584G>A (p.Val2862Ile)
NM_000051.4(ATM):c.8585-3C>A
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val) rs786201911
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.4(ATM):c.8594T>G (p.Ile2865Arg) rs587779873
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro) rs1555139517
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8600G>A (p.Gly2867Glu) rs2088544594
NM_000051.4(ATM):c.8602C>A (p.Leu2868Ile) rs587780642
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val) rs587780642
NM_000051.4(ATM):c.8605G>A (p.Gly2869Ser) rs748855312
NM_000051.4(ATM):c.8605G>T (p.Gly2869Cys)
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp) rs1555139531
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala) rs1555139531
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn) rs55798854
NM_000051.4(ATM):c.8608G>C (p.Asp2870His)
NM_000051.4(ATM):c.8608G>T (p.Asp2870Tyr) rs55798854
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.4(ATM):c.8611A>G (p.Arg2871Gly) rs2088548689
NM_000051.4(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.4(ATM):c.8614C>G (p.His2872Asp) rs2088549387
NM_000051.4(ATM):c.8614C>T (p.His2872Tyr) rs2088549387
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8615A>T (p.His2872Leu) rs1591273938
NM_000051.4(ATM):c.8616T>A (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8616T>G (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8618T>C (p.Val2873Ala) rs1591274020
NM_000051.4(ATM):c.8621A>C (p.Gln2874Pro) rs1565567144
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.4(ATM):c.8623A>G (p.Asn2875Asp)
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr) rs2137081967
NM_000051.4(ATM):c.8628C>G (p.Ile2876Met) rs1555139577
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu) rs1591274185
NM_000051.4(ATM):c.8633T>C (p.Ile2878Thr) rs972293256
NM_000051.4(ATM):c.8634A>G (p.Ile2878Met) rs2088556289
NM_000051.4(ATM):c.8636A>G (p.Asn2879Ser) rs1565567277
NM_000051.4(ATM):c.8638G>A (p.Glu2880Lys) rs771930635
NM_000051.4(ATM):c.8639A>G (p.Glu2880Gly)
NM_000051.4(ATM):c.8639A>T (p.Glu2880Val)
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.4(ATM):c.8643G>T (p.Gln2881His) rs1591274305
NM_000051.4(ATM):c.8644T>C (p.Ser2882Pro)
NM_000051.4(ATM):c.8652A>C (p.Glu2884Asp)
NM_000051.4(ATM):c.8653C>T (p.Leu2885Phe) rs775185939
NM_000051.4(ATM):c.8654T>A (p.Leu2885His) rs2088560069
NM_000051.4(ATM):c.8656G>C (p.Val2886Leu)
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.8659C>T (p.His2887Tyr) rs1591274530
NM_000051.4(ATM):c.865A>C (p.Ile289Leu) rs1555067259
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8660A>G (p.His2887Arg) rs864622173
NM_000051.4(ATM):c.8662A>C (p.Ile2888Leu)
NM_000051.4(ATM):c.8662A>T (p.Ile2888Leu) rs2088562912
NM_000051.4(ATM):c.8663T>A (p.Ile2888Lys)
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg) rs760955058
NM_000051.4(ATM):c.8664A>G (p.Ile2888Met) rs769052707
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.4(ATM):c.8665G>C (p.Asp2889His) rs587781814
NM_000051.4(ATM):c.8665G>T (p.Asp2889Tyr) rs587781814
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8667T>G (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8668C>A (p.Leu2890Ile) rs587779874
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro) rs2088565976
NM_000051.4(ATM):c.8669T>G (p.Leu2890Arg)
NM_000051.4(ATM):c.866T>C (p.Ile289Thr) rs35261362
NM_000051.4(ATM):c.8671+2dup rs1555139698
NM_000051.4(ATM):c.8671+4A>C rs876660652
NM_000051.4(ATM):c.8671+5G>A
NM_000051.4(ATM):c.8671+6T>C rs2088568547
NM_000051.4(ATM):c.8671+6T>G rs2088568547
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser) rs1565567541
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys) rs1565567541
NM_000051.4(ATM):c.8672-11C>A
NM_000051.4(ATM):c.8672-11_8672-5delinsAA rs2089488486
NM_000051.4(ATM):c.8672-11_8672-9del
NM_000051.4(ATM):c.8672-13T>G rs730881280
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8672-5T>G rs1591306315
NM_000051.4(ATM):c.8672-6C>A rs1555142794
NM_000051.4(ATM):c.8672-6_8672-2del rs2089488857
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala) rs1591306442
NM_000051.4(ATM):c.8677G>A (p.Ala2893Thr) rs1555142808
NM_000051.4(ATM):c.8677G>C (p.Ala2893Pro) rs1555142808
NM_000051.4(ATM):c.8677_8685del (p.Ala2893_Glu2895del) rs2137285531
NM_000051.4(ATM):c.8678C>A (p.Ala2893Asp) rs2089493277
NM_000051.4(ATM):c.8683G>C (p.Glu2895Gln) rs769951912
NM_000051.4(ATM):c.8686_8694del (p.Gln2896_Lys2898del) rs1060501671
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000051.4(ATM):c.8687A>G (p.Gln2896Arg) rs2089494486
NM_000051.4(ATM):c.8689G>A (p.Gly2897Ser) rs2089494758
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys) rs2089494758
NM_000051.4(ATM):c.868C>A (p.His290Asn) rs1591504685
NM_000051.4(ATM):c.868C>T (p.His290Tyr) rs1591504685
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp) rs1591306536
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu) rs2137287369
NM_000051.4(ATM):c.8695A>C (p.Ile2899Leu) rs1591306598
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met) rs1333079704
NM_000051.4(ATM):c.8698C>A (p.Leu2900Ile) rs2089496713
NM_000051.4(ATM):c.869A>C (p.His290Pro) rs2135243301
NM_000051.4(ATM):c.869A>G (p.His290Arg) rs2135243301
NM_000051.4(ATM):c.869ATC[1] (p.His291del) rs2135243288
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala) rs2137288475
NM_000051.4(ATM):c.8705C>A (p.Thr2902Asn)
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile) rs1591306636
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser) rs1591306666
NM_000051.4(ATM):c.8707_8709del (p.Pro2903del)
NM_000051.4(ATM):c.870T>G (p.His290Gln)
NM_000051.4(ATM):c.8710G>A (p.Glu2904Lys)
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln) rs1591306697
NM_000051.4(ATM):c.8714C>T (p.Thr2905Ile)
NM_000051.4(ATM):c.8717_8737del (p.Val2906_Arg2912del)
NM_000051.4(ATM):c.8719C>A (p.Pro2907Thr)
NM_000051.4(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
NM_000051.4(ATM):c.8720C>A (p.Pro2907His) rs56887719
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg) rs56887719
NM_000051.4(ATM):c.8725A>G (p.Arg2909Gly)
NM_000051.4(ATM):c.8726G>A (p.Arg2909Lys) rs759905760
NM_000051.4(ATM):c.8728C>T (p.Leu2910Phe) rs1555142851
NM_000051.4(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro) rs786203271
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000051.4(ATM):c.8732C>G (p.Thr2911Ser) rs794728018
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8735G>C (p.Arg2912Thr) rs2089507361
NM_000051.4(ATM):c.8737G>C (p.Asp2913His) rs756899044
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
NM_000051.4(ATM):c.8740A>T (p.Ile2914Phe)
NM_000051.4(ATM):c.8743G>A (p.Val2915Met) rs2089510680
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn) rs150874041
NM_000051.4(ATM):c.8747A>T (p.Asp2916Val) rs2137293159
NM_000051.4(ATM):c.8749G>A (p.Gly2917Ser) rs2137293373
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
NM_000051.4(ATM):c.8750G>A (p.Gly2917Asp)
NM_000051.4(ATM):c.8754G>A (p.Met2918Ile) rs2137293810
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp) rs2137294046
NM_000051.4(ATM):c.8756G>C (p.Gly2919Ala)
NM_000051.4(ATM):c.8759T>C (p.Ile2920Thr) rs1565579485
NM_000051.4(ATM):c.875C>G (p.Pro292Arg) rs747727055
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8762C>G (p.Thr2921Arg)
NM_000051.4(ATM):c.8764G>A (p.Gly2922Ser)
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp) rs2089517173
NM_000051.4(ATM):c.8765G>T (p.Gly2922Val) rs2089517173
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys) rs2137295860
NM_000051.4(ATM):c.8772A>C (p.Glu2924Asp) rs2089519648
NM_000051.4(ATM):c.8772A>T (p.Glu2924Asp)
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
NM_000051.4(ATM):c.8773G>C (p.Gly2925Arg) rs876658519
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp) rs769959260
NM_000051.4(ATM):c.8774G>C (p.Gly2925Ala) rs769959260
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.4(ATM):c.8776G>A (p.Val2926Ile) rs2137296380
NM_000051.4(ATM):c.8777T>C (p.Val2926Ala)
NM_000051.4(ATM):c.8777T>G (p.Val2926Gly) rs773329421
NM_000051.4(ATM):c.8779T>A (p.Phe2927Ile)
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys) rs1555142909
NM_000051.4(ATM):c.8786+4A>T rs2137297919
NM_000051.4(ATM):c.8787-13T>A
NM_000051.4(ATM):c.8787-3T>C rs2089687765
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8788T>C (p.Cys2930Arg)
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly) rs876659807
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.4(ATM):c.8789G>T (p.Cys2930Phe) rs1060501572
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8791T>C (p.Cys2931Arg) rs2089690140
NM_000051.4(ATM):c.8792G>A (p.Cys2931Tyr) rs1060501563
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys) rs1240328733
NM_000051.4(ATM):c.8795A>G (p.Glu2932Gly) rs2089691352
NM_000051.4(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.8801C>A (p.Thr2934Asn) rs1591314020
NM_000051.4(ATM):c.8801C>T (p.Thr2934Ile) rs1591314020
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr) rs2137348119
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.4(ATM):c.8815_8816delinsGC (p.Arg2939Ala)
NM_000051.4(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.4(ATM):c.881G>A (p.Gly294Glu) rs1370428326
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys) rs775823407
NM_000051.4(ATM):c.8821T>C (p.Ser2941Pro) rs1555143549
NM_000051.4(ATM):c.8821T>G (p.Ser2941Ala) rs1555143549
NM_000051.4(ATM):c.8822C>G (p.Ser2941Cys)
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe) rs1591314282
NM_000051.4(ATM):c.8826G>C (p.Gln2942His) rs2137351461
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val) rs786203505
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser) rs2137352720
NM_000051.4(ATM):c.8839A>G (p.Thr2947Ala)
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser) rs760950400
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8842A>T (p.Ile2948Phe)
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8844T>G (p.Ile2948Met) rs878853551
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8846T>G (p.Val2949Gly)
NM_000051.4(ATM):c.8848G>C (p.Glu2950Gln)
NM_000051.4(ATM):c.8848_8850+3del rs2137353827
NM_000051.4(ATM):c.884C>T (p.Ala295Val) rs1044092081
NM_000051.4(ATM):c.8850+13A>C
NM_000051.4(ATM):c.8850+17G>C
NM_000051.4(ATM):c.8850+4A>G rs587782335
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.8850+6G>C rs2089704921
NM_000051.4(ATM):c.8851-1G>C rs1057516537
NM_000051.4(ATM):c.8851-3T>C rs748874219
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8851G>T (p.Val2951Phe)
NM_000051.4(ATM):c.8852T>A (p.Val2951Asp)
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)
NM_000051.4(ATM):c.8854C>G (p.Leu2952Val) rs1555151218
NM_000051.4(ATM):c.8855T>C (p.Leu2952Pro) rs1591384283
NM_000051.4(ATM):c.8857C>G (p.Leu2953Val) rs2137870068
NM_000051.4(ATM):c.8860T>A (p.Tyr2954Asn)
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8860T>G (p.Tyr2954Asp)
NM_000051.4(ATM):c.8863_8865del (p.Asp2955del) rs587780644
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8869C>G (p.Leu2957Val) rs2137872203
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.8870T>G (p.Leu2957Arg) rs1555151255
NM_000051.4(ATM):c.8872T>C (p.Phe2958Leu)
NM_000051.4(ATM):c.8874_8930dup (p.Asp2976_Glu2977insAspAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAsp)
NM_000051.4(ATM):c.8875G>A (p.Asp2959Asn)
NM_000051.4(ATM):c.8878T>A (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878_8879delinsCT (p.Trp2960Leu)
NM_000051.4(ATM):c.887A>G (p.Lys296Arg) rs1064795297
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8880G>T (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8881A>G (p.Thr2961Ala) rs1565607505
NM_000051.4(ATM):c.8882C>G (p.Thr2961Ser)
NM_000051.4(ATM):c.8882C>T (p.Thr2961Ile) rs1591384581
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile) rs2137874845
NM_000051.4(ATM):c.888A>C (p.Lys296Asn) rs1023530965
NM_000051.4(ATM):c.8891C>A (p.Pro2964His)
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp) rs1555151299
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.88T>A (p.Phe30Ile) rs2078817952
NM_000051.4(ATM):c.8900C>T (p.Ala2967Val)
NM_000051.4(ATM):c.8904G>T (p.Leu2968Phe) rs1555151326
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His) rs1591384712
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg) rs1060501714
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8919G>T (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8920C>A (p.Pro2974Thr) rs984616023
NM_000051.4(ATM):c.8920C>T (p.Pro2974Ser) rs984616023
NM_000051.4(ATM):c.8921C>A (p.Pro2974Gln) rs139379666
NM_000051.4(ATM):c.8921_8922insTTC (p.Pro2974_Glu2975insSer) rs2091207598
NM_000051.4(ATM):c.8926G>T (p.Asp2976Tyr)
NM_000051.4(ATM):c.8933C>G (p.Thr2978Ser) rs765446164
NM_000051.4(ATM):c.8933C>T (p.Thr2978Ile)
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val) rs786203721
NM_000051.4(ATM):c.8939T>G (p.Leu2980Arg)
NM_000051.4(ATM):c.893A>C (p.Gln298Pro) rs2079775401
NM_000051.4(ATM):c.8941C>T (p.His2981Tyr) rs1555151422
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8943C>G (p.His2981Gln) rs876660594
NM_000051.4(ATM):c.8944C>A (p.Pro2982Thr) rs1485620194
NM_000051.4(ATM):c.8944C>G (p.Pro2982Ala)
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val) rs747445236
NM_000051.4(ATM):c.8955T>A (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8959G>C (p.Asp2987His) rs863224582
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.8960A>G (p.Asp2987Gly) rs2091213427
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg) rs1555151490
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln) rs1800558
NM_000051.4(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.4(ATM):c.896A>T (p.Glu299Val) rs587779876
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg) rs1591385376
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr) rs1555151500
NM_000051.4(ATM):c.8977C>G (p.Arg2993Gly) rs770641163
NM_000051.4(ATM):c.8981A>C (p.Asn2994Thr) rs2091216343
NM_000051.4(ATM):c.8981A>G (p.Asn2994Ser) rs2091216343
NM_000051.4(ATM):c.8982T>A (p.Asn2994Lys) rs2137888159
NM_000051.4(ATM):c.8987+3_8987+35del rs774188684
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)
NM_000051.4(ATM):c.8988-15T>A
NM_000051.4(ATM):c.8988-3T>C rs1565608600
NM_000051.4(ATM):c.8988-6_8988-4del rs767175242
NM_000051.4(ATM):c.8988-8dup rs1591386308
NM_000051.4(ATM):c.8989G>A (p.Asp2997Asn) rs2091232028
NM_000051.4(ATM):c.8990A>G (p.Asp2997Gly)
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.4(ATM):c.8993T>A (p.Ile2998Asn) rs778670498
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.8999A>G (p.Gln3000Arg) rs2137905294
NM_000051.4(ATM):c.89T>A (p.Phe30Tyr) rs876658520
NM_000051.4(ATM):c.89T>G (p.Phe30Cys) rs876658520
NM_000051.4(ATM):c.8T>C (p.Leu3Pro) rs1555053861
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr) rs587781413
NM_000051.4(ATM):c.9005T>A (p.Phe3002Tyr) rs1565608780
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9007A>G (p.Asn3003Asp) rs1137889
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9008A>T (p.Asn3003Ile)
NM_000051.4(ATM):c.901+10A>T rs2135244818
NM_000051.4(ATM):c.901+3A>G rs786203070
NM_000051.4(ATM):c.901+4T>A
NM_000051.4(ATM):c.901+4T>G rs1591504958
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.4(ATM):c.9013G>C (p.Val3005Leu) rs1555151745
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr) rs876658767
NM_000051.4(ATM):c.9019_9021dup (p.Glu3007_Arg3008insGlu)
NM_000051.4(ATM):c.901G>C (p.Gly301Arg) rs1064797160
NM_000051.4(ATM):c.902-3C>A
NM_000051.4(ATM):c.902-3C>T
NM_000051.4(ATM):c.902-9G>A
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9026T>C (p.Val3009Ala)
NM_000051.4(ATM):c.9026T>G (p.Val3009Gly) rs1565608934
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser) rs2137909752
NM_000051.4(ATM):c.902G>T (p.Gly301Val) rs202208861
NM_000051.4(ATM):c.9030_9032del (p.Met3011del)
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu) rs372795527
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys) rs1555151804
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr) rs1555151804
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg) rs1555151804
NM_000051.4(ATM):c.9033G>A (p.Met3011Ile)
NM_000051.4(ATM):c.9038T>C (p.Leu3013Pro)
NM_000051.4(ATM):c.9040C>A (p.Gln3014Lys)
NM_000051.4(ATM):c.9042A>T (p.Gln3014His) rs1060504291
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys) rs1591387120
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly) rs1565609065
NM_000051.4(ATM):c.9045G>C (p.Glu3015Asp) rs786203336
NM_000051.4(ATM):c.9046A>G (p.Lys3016Glu) rs2091242377
NM_000051.4(ATM):c.9047A>C (p.Lys3016Thr) rs2137912584
NM_000051.4(ATM):c.9050T>G (p.Leu3017Arg) rs786204218
NM_000051.4(ATM):c.9052A>C (p.Lys3018Gln)
NM_000051.4(ATM):c.9052A>G (p.Lys3018Glu) rs2091243577
NM_000051.4(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9068G>T (p.Gly3023Val) rs769548726
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.4(ATM):c.9071C>G (p.Thr3024Ser) rs786203183
NM_000051.4(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.4(ATM):c.9073G>T (p.Val3025Leu) rs1555151925
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala) rs2137916904
NM_000051.4(ATM):c.9076C>T (p.Leu3026Phe)
NM_000051.4(ATM):c.9077T>A (p.Leu3026His) rs1565609286
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.4(ATM):c.9079A>C (p.Ser3027Arg) rs763152094
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.4(ATM):c.9080G>A (p.Ser3027Asn) rs1565609342
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile) rs1565609342
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile) rs876660251
NM_000051.4(ATM):c.9083T>C (p.Val3028Ala) rs2137918557
NM_000051.4(ATM):c.9084TGG[1] (p.Gly3030del) rs1591387676
NM_000051.4(ATM):c.9085G>C (p.Gly3029Arg)
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg) rs879254215
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val) rs876658529
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu) rs1555151979
NM_000051.4(ATM):c.9094G>A (p.Val3032Met) rs587779877
NM_000051.4(ATM):c.9095_9121del (p.Val3032_Ile3040del) rs2091250755
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp) rs1555151992
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val) rs866769874
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000051.4(ATM):c.9104T>A (p.Leu3035His) rs1272213516
NM_000051.4(ATM):c.9106A>C (p.Ile3036Leu)
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.9111G>T (p.Gln3037His) rs1555152012
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.4(ATM):c.9114G>C (p.Gln3038His) rs2091254206
NM_000051.4(ATM):c.9115G>C (p.Ala3039Pro)
NM_000051.4(ATM):c.911A>C (p.Glu304Ala) rs2135264712
NM_000051.4(ATM):c.9125C>T (p.Pro3042Leu) rs2137925225
NM_000051.4(ATM):c.9127A>G (p.Lys3043Glu) rs1591388080
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
NM_000051.4(ATM):c.9133C>G (p.Leu3045Val) rs1555152033
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9134T>C (p.Leu3045Pro) rs1591388159
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.4(ATM):c.9138C>G (p.Ser3046Arg) rs1591388202
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln) rs1047129530
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)
NM_000051.4(ATM):c.9147C>A (p.Phe3049Leu) rs2091258043
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser) rs2137928327
NM_000051.4(ATM):c.9151G>A (p.Gly3051Arg)
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu) rs1555152073
NM_000051.4(ATM):c.9152G>C (p.Gly3051Ala) rs1555152073
NM_000051.4(ATM):c.9152G>T (p.Gly3051Val) rs1555152073
NM_000051.4(ATM):c.9154T>C (p.Trp3052Arg) rs2091259011
NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter)
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser) rs1591388369
NM_000051.4(ATM):c.9156G>A (p.Trp3052Ter) rs587781711
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln) rs1555152104
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.4(ATM):c.9160G>A (p.Ala3054Thr) rs1565609869
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro) rs1565609869
NM_000051.4(ATM):c.9160_9161delinsTA (p.Ala3054Tyr) rs2137930126
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly) rs1555152117
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val) rs1555152117
NM_000051.4(ATM):c.9163T>G (p.Trp3055Gly)
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.9164G>T (p.Trp3055Leu)
NM_000051.4(ATM):c.9165G>A (p.Trp3055Ter)
NM_000051.4(ATM):c.9166G>C (p.Val3056Leu)
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg) rs2091262473
NM_000051.4(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.4(ATM):c.9171A>T (p.Ter3057Cys) rs2091262986
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>T (p.Thr306Ile) rs1565374923
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.922T>A (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.922T>C (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.925A>G (p.Arg309Gly) rs876659841
NM_000051.4(ATM):c.926G>A (p.Arg309Lys)
NM_000051.4(ATM):c.926G>T (p.Arg309Ile)
NM_000051.4(ATM):c.927A>C (p.Arg309Ser)
NM_000051.4(ATM):c.927A>T (p.Arg309Ser) rs935834518
NM_000051.4(ATM):c.928A>C (p.Ser310Arg)
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.929G>A (p.Ser310Asn) rs2079879169
NM_000051.4(ATM):c.932T>C (p.Ile311Thr) rs1462079674
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.4(ATM):c.940A>C (p.Asn314His) rs2079880133
NM_000051.4(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn) rs142317485
NM_000051.4(ATM):c.949G>C (p.Asp317His)
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.4(ATM):c.94C>A (p.Arg32Ser) rs148061139
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
NM_000051.4(ATM):c.954_956del (p.Leu319del) rs2135266014
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)
NM_000051.4(ATM):c.959T>A (p.Val320Glu)
NM_000051.4(ATM):c.95G>T (p.Arg32Leu) rs368161489
NM_000051.4(ATM):c.961A>G (p.Asn321Asp) rs1591510765
NM_000051.4(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.4(ATM):c.968T>A (p.Ile323Lys) rs2079882407
NM_000051.4(ATM):c.968T>G (p.Ile323Arg) rs2079882407
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220
NM_000051.4(ATM):c.971G>A (p.Ser324Asn) rs1355502804
NM_000051.4(ATM):c.974A>C (p.His325Pro) rs1565375244
NM_000051.4(ATM):c.974A>G (p.His325Arg) rs1565375244
NM_000051.4(ATM):c.974A>T (p.His325Leu) rs1565375244
NM_000051.4(ATM):c.975T>A (p.His325Gln) rs746825207
NM_000051.4(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.4(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
NM_000051.4(ATM):c.980G>A (p.Gly327Glu) rs1591510902
NM_000051.4(ATM):c.982A>C (p.Ser328Arg) rs1555068433
NM_000051.4(ATM):c.982A>G (p.Ser328Gly) rs1555068433
NM_000051.4(ATM):c.983G>A (p.Ser328Asn) rs2135267189
NM_000051.4(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.4(ATM):c.985A>G (p.Arg329Gly) rs1591510933
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.4(ATM):c.986G>C (p.Arg329Thr) rs776938735
NM_000051.4(ATM):c.986G>T (p.Arg329Ile)
NM_000051.4(ATM):c.988G>A (p.Gly330Arg) rs2135267332
NM_000051.4(ATM):c.989G>A (p.Gly330Glu) rs762179829
NM_000051.4(ATM):c.98T>C (p.Leu33Pro) rs2078818941
NM_000051.4(ATM):c.991A>G (p.Lys331Glu) rs1555068451
NM_000051.4(ATM):c.992A>T (p.Lys331Met) rs2079885179
NM_000051.4(ATM):c.993G>T (p.Lys331Asn) rs786202048
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys) rs1060501664
NM_000051.4(ATM):c.995A>T (p.Tyr332Phe) rs1060501664
NM_001330368.2(C11orf65):c.641-3340_641-3338dup

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