ClinVar Miner

List of variants in gene ATM reported by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2781
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3576+687C>T rs1003623 0.52044
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.05797
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03133
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02129
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01739
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01106
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00711
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00242
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00198
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
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.998C>T (p.Ser333Phe) rs28904919 0.00133
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00130
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00092
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00078
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
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.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00029
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.4402G>A (p.Val1468Ile) rs369903995 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 0.00025
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00022
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00021
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
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.5489T>C (p.Met1830Thr) rs145812395 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3576+687_3576+688insTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091763 0.00012
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00011
NM_000051.4(ATM):c.3153+20T>C rs200786429 0.00011
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 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.1727T>C (p.Ile576Thr) rs730881342 0.00010
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00010
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00010
NM_000051.4(ATM):c.3403-14A>G rs941737393 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00009
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.572T>A (p.Ile191Asn) rs767132334 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.3284+16T>G rs376541962 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
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.2220A>G (p.Ala740=) rs56353517 0.00007
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 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_000051.4(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.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.3993+18A>G rs201171518 0.00006
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val) rs746709782 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.5005+17C>G rs200688912 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 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.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00005
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00005
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00005
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 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.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 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.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=) rs780240314 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 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.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00003
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 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.2013A>T (p.Ile671=) rs1371341017 0.00003
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 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.2151G>C (p.Arg717=) rs1331738032 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 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.2418G>T (p.Leu806Phe) rs587781296 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.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly) rs750322758 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2751C>T (p.Ser917=) rs876659611 0.00003
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069 0.00003
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 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.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3373T>C (p.Leu1125=) rs775277598 0.00003
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.3402+16A>G rs763382531 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.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 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.4445G>A (p.Cys1482Tyr) rs201277352 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.4687G>A (p.Asp1563Asn) rs1464587365 0.00003
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr) rs753269143 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5006-18T>A rs768321973 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.5319+17A>G rs1331649240 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 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.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.1235+20T>G rs762656752 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.1355del (p.Thr452fs) rs587781776 0.00002
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1608-8T>C rs201110707 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00002
NM_000051.4(ATM):c.1707C>T (p.Ser569=) rs1381837075 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly) rs2080177696 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.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.1998G>A (p.Val666=) rs748380150 0.00002
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu) rs779004090 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2338A>T (p.Met780Leu) rs587781446 0.00002
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala) rs926246315 0.00002
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.2619A>G (p.Gly873=) rs777979257 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2638+8C>T rs776116433 0.00002
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085 0.00002
NM_000051.4(ATM):c.2736G>A (p.Gln912=) rs757305928 0.00002
NM_000051.4(ATM):c.2921+16C>A rs558376224 0.00002
NM_000051.4(ATM):c.2922-8T>C rs545892367 0.00002
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00002
NM_000051.4(ATM):c.2992G>A (p.Val998Met) rs199635238 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00002
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser) rs755237639 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00002
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 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.3449G>C (p.Arg1150Thr) rs555219189 0.00002
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 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.3747-9T>C rs760676626 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 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.425G>A (p.Ser142Asn) rs755618506 0.00002
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr) rs876659764 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.4437-7A>G rs370354306 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524 0.00002
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.4910-20T>G rs773731240 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.496+20G>C rs751245102 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.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383 0.00002
NM_000051.4(ATM):c.504C>G (p.Phe168Leu) rs1060504312 0.00002
NM_000051.4(ATM):c.5069A>G (p.His1690Arg) rs863224574 0.00002
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 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.5267C>G (p.Thr1756Arg) rs786203369 0.00002
NM_000051.4(ATM):c.5319+7T>A rs925428128 0.00002
NM_000051.4(ATM):c.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe) rs200842502 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 0.00002
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.852A>G (p.Gln284=) rs140367473 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.902-8G>T rs777483294 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.-15C>T rs1204830852 0.00001
NM_000051.4(ATM):c.-19T>C rs890075956 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.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu) rs199869975 0.00001
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg) rs757486696 0.00001
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833 0.00001
NM_000051.4(ATM):c.1197C>T (p.His399=) rs786201131 0.00001
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519 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.1234T>C (p.Trp412Arg) rs587779812 0.00001
NM_000051.4(ATM):c.1235+11dup rs773187419 0.00001
NM_000051.4(ATM):c.1235+14A>G rs776931625 0.00001
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.1235+5A>T rs1064793679 0.00001
NM_000051.4(ATM):c.1251C>T (p.Thr417=) rs1555070643 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 0.00001
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356 0.00001
NM_000051.4(ATM):c.1302A>G (p.Pro434=) rs1555070715 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1317A>G (p.Leu439=) rs1232968268 0.00001
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe) rs773895161 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg) rs1591523341 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1338G>A (p.Gln446=) rs771673512 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 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.1362T>C (p.Tyr454=) rs1373614735 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1407G>A (p.Arg469=) rs1555070912 0.00001
NM_000051.4(ATM):c.1410A>G (p.Ser470=) rs939650649 0.00001
NM_000051.4(ATM):c.1416A>G (p.Leu472=) rs786201691 0.00001
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly) rs1555070958 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe) rs753808755 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1455T>C (p.Asn485=) rs1385019623 0.00001
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe) rs776412334 0.00001
NM_000051.4(ATM):c.1473C>G (p.Thr491=) rs764937436 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.1494G>A (p.Glu498=) rs763108858 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.1511A>G (p.Asn504Ser) rs56365018 0.00001
NM_000051.4(ATM):c.1515T>C (p.Phe505=) rs1057520521 0.00001
NM_000051.4(ATM):c.1556T>C (p.Val519Ala) rs574458765 0.00001
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu) rs864622262 0.00001
NM_000051.4(ATM):c.1607+16A>G rs1057522219 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.1608-19G>T rs773158102 0.00001
NM_000051.4(ATM):c.1627A>G (p.Thr543Ala) rs2080165023 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1641C>A (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1641C>G (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 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.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230 0.00001
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly) rs876659425 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 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.1746C>T (p.Phe582=) rs145629926 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln) rs876659283 0.00001
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu) rs765847854 0.00001
NM_000051.4(ATM):c.1802+20A>G rs1009750697 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+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 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+2T>G rs587782124 0.00001
NM_000051.4(ATM):c.1898+9T>C rs1057520836 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.1899-16T>A rs1352009139 0.00001
NM_000051.4(ATM):c.1903C>T (p.His635Tyr) rs761491947 0.00001
NM_000051.4(ATM):c.1929T>G (p.Leu643=) rs876659911 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.1944A>G (p.Val648=) rs1555073161 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 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.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00001
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362 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.2085G>A (p.Leu695=) rs786202229 0.00001
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539 0.00001
NM_000051.4(ATM):c.2097A>G (p.Glu699=) rs777887012 0.00001
NM_000051.4(ATM):c.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2124+13A>T rs199648955 0.00001
NM_000051.4(ATM):c.2124+16A>G rs762709930 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2125-11T>A rs1054208254 0.00001
NM_000051.4(ATM):c.2125-8A>G rs757565418 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.2158C>T (p.Arg720Cys) rs565622131 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.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr) rs1565395012 0.00001
NM_000051.4(ATM):c.2207C>T (p.Ala736Val) rs587780617 0.00001
NM_000051.4(ATM):c.2208T>C (p.Ala736=) rs761874856 0.00001
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr) rs864622515 0.00001
NM_000051.4(ATM):c.2250+18A>G rs895190150 0.00001
NM_000051.4(ATM):c.2250+20T>C rs377570109 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2251-11A>G rs755369461 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2262A>G (p.Gln754=) rs778320952 0.00001
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr) rs876660916 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270 0.00001
NM_000051.4(ATM):c.2284C>G (p.Leu762Val) rs876659401 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2331A>G (p.Arg777=) rs1313482346 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.2373C>T (p.Thr791=) rs878853494 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.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2377-6T>A rs876660963 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.2394T>C (p.Ile798=) rs876659882 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.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2499A>C (p.Gly833=) rs1060504263 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.2503G>T (p.Val835Leu) rs757151992 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.2522A>C (p.Asp841Ala) rs587781812 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.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn) rs587779825 0.00001
NM_000051.4(ATM):c.2589T>C (p.Asp863=) rs1057520227 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-18A>G rs1555083057 0.00001
NM_000051.4(ATM):c.2639-22A>G rs1555083055 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2639-9T>G rs1457466709 0.00001
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg) rs876659776 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.2712G>A (p.Leu904=) rs1409179618 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.2741A>G (p.Asn914Ser) rs141947469 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro) rs750916886 0.00001
NM_000051.4(ATM):c.2751C>G (p.Ser917=) rs876659611 0.00001
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr) rs2081390566 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.2800A>G (p.Ser934Gly) rs772054979 0.00001
NM_000051.4(ATM):c.2808A>G (p.Leu936=) rs547791214 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.2824C>T (p.Leu942Phe) rs3218688 0.00001
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg) rs565886680 0.00001
NM_000051.4(ATM):c.2838+10G>A rs1555083482 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2839-15C>T rs2081545815 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2839-6T>C rs1338486619 0.00001
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 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.2908C>T (p.Leu970=) rs1060504260 0.00001
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu) rs750093937 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe) rs538105098 0.00001
NM_000051.4(ATM):c.2922-14T>C rs761100734 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 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.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys) rs587780619 0.00001
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737 0.00001
NM_000051.4(ATM):c.2953G>C (p.Asp985His) rs1210518784 0.00001
NM_000051.4(ATM):c.2957T>C (p.Val986Ala) rs373225328 0.00001
NM_000051.4(ATM):c.2988T>G (p.His996Gln) rs559676197 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3003A>G (p.Leu1001=) rs765969190 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.3030C>T (p.Asn1010=) rs876660913 0.00001
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys) rs186626274 0.00001
NM_000051.4(ATM):c.3077+13dup rs1555085272 0.00001
NM_000051.4(ATM):c.3077+15T>C rs1555085277 0.00001
NM_000051.4(ATM):c.3077+1G>T rs192810283 0.00001
NM_000051.4(ATM):c.3077+5G>A rs777003996 0.00001
NM_000051.4(ATM):c.3077+8C>G rs752601608 0.00001
NM_000051.4(ATM):c.3078-11C>T rs756972430 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3081T>C (p.His1027=) rs864622587 0.00001
NM_000051.4(ATM):c.309C>T (p.Tyr103=) rs777499935 0.00001
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln) rs774935453 0.00001
NM_000051.4(ATM):c.3153+11G>A rs760086749 0.00001
NM_000051.4(ATM):c.3154-12C>A rs781387283 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=) rs768038217 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.3216A>G (p.Glu1072=) rs373699194 0.00001
NM_000051.4(ATM):c.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.323C>G (p.Ala108Gly) rs766951228 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.3257G>A (p.Arg1086His) rs769857066 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3285-7T>C rs913535107 0.00001
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu) rs876658491 0.00001
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034 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.3333T>G (p.Leu1111=) rs750932338 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3351A>G (p.Gln1117=) rs777375945 0.00001
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 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.3402+14A>C rs200494541 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 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.3453A>G (p.Lys1151=) rs977448999 0.00001
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588 0.00001
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730 0.00001
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243 0.00001
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg) rs749933079 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys) rs200765255 0.00001
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3576+14A>C rs1416761865 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3577-12T>C rs757616718 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.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.3627T>C (p.Phe1209=) rs762605020 0.00001
NM_000051.4(ATM):c.363A>C (p.Leu121Phe) rs774555120 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.366T>C (p.Asn122=) rs1178025248 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys) rs759673348 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277 0.00001
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=) rs772331389 0.00001
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser) rs730881363 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.373A>G (p.Met125Val) rs761137313 0.00001
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-15T>C rs995903726 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.3747-8A>G rs569612113 0.00001
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=) rs886039637 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 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.381A>G (p.Thr127=) rs762582522 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.3848T>C (p.Leu1283Pro) rs730881389 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.389A>G (p.Asp130Gly) rs766034066 0.00001
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00001
NM_000051.4(ATM):c.3918T>C (p.Ser1306=) rs139632347 0.00001
NM_000051.4(ATM):c.3951G>A (p.Lys1317=) rs1485996895 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.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+1G>A rs200196781 0.00001
NM_000051.4(ATM):c.3993+3A>G rs771789242 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 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.401G>A (p.Gly134Asp) rs771166271 0.00001
NM_000051.4(ATM):c.4023A>T (p.Pro1341=) rs1020202983 0.00001
NM_000051.4(ATM):c.4032G>C (p.Val1344=) rs769871715 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly) rs917721053 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4101C>T (p.Asp1367=) rs587780623 0.00001
NM_000051.4(ATM):c.4104T>C (p.Phe1368=) rs569614591 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4114T>C (p.Leu1372=) rs762242838 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 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.4145C>T (p.Pro1382Leu) rs752460436 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 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>A (p.Ile1393=) rs775688446 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.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val) rs786201832 0.00001
NM_000051.4(ATM):c.4211T>C (p.Ile1404Thr) rs1555096989 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4236+11A>G rs368684533 0.00001
NM_000051.4(ATM):c.4236+12T>C rs369996463 0.00001
NM_000051.4(ATM):c.4237-13G>A rs778685615 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg) rs758180727 0.00001
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606 0.00001
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val) rs562445932 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu) rs774886013 0.00001
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 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.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-13dup rs1555099701 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 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.4467T>C (p.Arg1489=) rs746296827 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.4492T>C (p.Leu1498=) rs748949478 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.4515C>T (p.Ala1505=) rs540798997 0.00001
NM_000051.4(ATM):c.4518G>A (p.Val1506=) rs1057524110 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.4534G>A (p.Ala1512Thr) rs1060501653 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.4561G>C (p.Val1521Leu) rs141329176 0.00001
NM_000051.4(ATM):c.4569A>G (p.Thr1523=) rs1555099963 0.00001
NM_000051.4(ATM):c.456G>T (p.Val152=) rs1555059433 0.00001
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr) rs755274980 0.00001
NM_000051.4(ATM):c.4611+19T>C rs776602821 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4612-17T>C rs550966528 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4615T>C (p.Leu1539=) rs976206782 0.00001
NM_000051.4(ATM):c.4620C>T (p.Asp1540=) rs1329153013 0.00001
NM_000051.4(ATM):c.4629A>G (p.Lys1543=) rs745565564 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.4662C>T (p.Asn1554=) rs776761757 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.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.475A>G (p.Ile159Val) rs1565357315 0.00001
NM_000051.4(ATM):c.4761C>T (p.Pro1587=) rs769562370 0.00001
NM_000051.4(ATM):c.4770C>T (p.Leu1590=) rs749475519 0.00001
NM_000051.4(ATM):c.4776+15A>C rs759607134 0.00001
NM_000051.4(ATM):c.4777-15C>T rs1057521023 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.4784A>G (p.Asn1595Ser) 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.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4822T>C (p.Leu1608=) rs775464644 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.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.48A>G (p.Glu16=) rs774768437 0.00001
NM_000051.4(ATM):c.4903T>G (p.Ser1635Ala) rs535266558 0.00001
NM_000051.4(ATM):c.4909+20T>C rs1401279002 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.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-2A>T rs1555103156 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.4931T>C (p.Met1644Thr) rs55843558 0.00001
NM_000051.4(ATM):c.496+16T>G rs776924718 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581 0.00001
NM_000051.4(ATM):c.497-14T>A rs757147178 0.00001
NM_000051.4(ATM):c.497-14_497-13insC rs776788385 0.00001
NM_000051.4(ATM):c.5005+13C>T rs1192513529 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5006-14A>C rs2083314877 0.00001
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg) rs1330898827 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.5055C>T (p.Thr1685=) rs587780551 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 0.00001
NM_000051.4(ATM):c.5079T>C (p.Asp1693=) rs753036834 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5118A>G (p.Lys1706=) rs3218672 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5164C>T (p.Leu1722=) rs1255639252 0.00001
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly) rs770882126 0.00001
NM_000051.4(ATM):c.5178-11G>A rs200876654 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609 0.00001
NM_000051.4(ATM):c.5195C>G (p.Ala1732Gly) rs1565476801 0.00001
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5217C>T (p.Asn1739=) rs876658271 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.522C>G (p.Leu174=) rs780173724 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.5271A>G (p.Thr1757=) rs1555105759 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter) rs2083444895 0.00001
NM_000051.4(ATM):c.5296C>T (p.Pro1766Ser) rs778309703 0.00001
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125 0.00001
NM_000051.4(ATM):c.5310A>G (p.Ser1770=) rs1060504282 0.00001
NM_000051.4(ATM):c.5319+20T>C rs775616416 0.00001
NM_000051.4(ATM):c.5319+2T>C rs1555105842 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.5320-4C>G rs1316146972 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.5355T>G (p.Pro1785=) rs1025083720 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly) rs746945284 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.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg) rs764522350 0.00001
NM_000051.4(ATM):c.554T>C (p.Val185Ala) rs730881335 0.00001
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val) rs200842502 0.00001
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg) rs138710254 0.00001
NM_000051.4(ATM):c.5595T>C (p.His1865=) rs772261410 0.00001
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507 0.00001
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457 0.00001
NM_000051.4(ATM):c.5613C>T (p.Thr1871=) rs2083601650 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.5640G>A (p.Thr1880=) rs757103582 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5661A>G (p.Ala1887=) rs876658939 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr) rs1060501557 0.00001
NM_000051.4(ATM):c.5762+19C>T rs1170960696 0.00001
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829 0.00001
NM_000051.4(ATM):c.63A>G (p.Thr21=) rs199853729 0.00001
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.662+14T>A rs1450503203 0.00001
NM_000051.4(ATM):c.662+20T>A rs1222553728 0.00001
NM_000051.4(ATM):c.663-14T>G rs2497145935 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 0.00001
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00001
NM_000051.4(ATM):c.672G>T (p.Lys224Asn) rs769731317 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.709A>G (p.Thr237Ala) rs376529329 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.73-14C>G rs766284348 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.754T>A (p.Cys252Ser) rs863224580 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe) rs876659531 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.887A>C (p.Lys296Thr) rs1064795297 0.00001
NM_000051.4(ATM):c.901+12A>G rs759379354 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.912A>G (p.Glu304=) rs1286754263 0.00001
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225 0.00001
NM_000051.4(ATM):c.931A>G (p.Ile311Val) rs876658322 0.00001
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 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.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr) rs768720856 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.989G>C (p.Gly330Ala) rs762179829 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.4(ATM):c.-1C>T rs2078804456
NM_000051.4(ATM):c.-2C>T rs755213267
NM_000051.4(ATM):c.-30-1G>T rs869312754
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.1017T>G (p.Ile339Met) rs993225847
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn) rs1060501526
NM_000051.4(ATM):c.103C>G (p.Arg35Gly) rs55861249
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr) rs1591511538
NM_000051.4(ATM):c.1058G>C (p.Cys353Ser) rs1591511538
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.4(ATM):c.1060C>T (p.His354Tyr) rs2079892237
NM_000051.4(ATM):c.1062C>T (p.His354=) rs773365379
NM_000051.4(ATM):c.1065+17A>G rs373230921
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+5A>G rs1204741025
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1065+9_1065+12del rs1486083030
NM_000051.4(ATM):c.1066-10T>C rs2135289561
NM_000051.4(ATM):c.1066-15A>G rs771020891
NM_000051.4(ATM):c.1066-20G>T rs1565378678
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1068T>A (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1076A>G (p.Glu359Gly) rs1555069537
NM_000051.4(ATM):c.1078G>A (p.Asp360Asn) rs1591517212
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.1086A>T (p.Arg362Ser) rs142591268
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr) rs2079990831
NM_000051.4(ATM):c.1105_1121del (p.Ser369fs) rs2497208411
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1121A>C (p.Gln374Pro) rs1555069640
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys) rs1555069665
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn) rs1462596554
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.4(ATM):c.1143T>C (p.Ser381=) rs755991658
NM_000051.4(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp) rs777755997
NM_000051.4(ATM):c.1153A>G (p.Lys385Glu) rs2079996194
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln) rs786202686
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.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter) rs876658567
NM_000051.4(ATM):c.1179G>C (p.Trp393Cys) rs876658567
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1195C>T (p.His399Tyr) rs1565379474
NM_000051.4(ATM):c.1196A>G (p.His399Arg) rs1565379486
NM_000051.4(ATM):c.119T>C (p.Ile40Thr) rs2135012557
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1216G>A (p.Asp406Asn) rs2080001416
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+4_1235+5del rs770033355
NM_000051.4(ATM):c.1235+8G>T rs1555069907
NM_000051.4(ATM):c.1236-18_1236-17del rs2080085044
NM_000051.4(ATM):c.1236-20T>C rs2080084457
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1242G>A (p.Gln414=) rs786203667
NM_000051.4(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1251C>G (p.Thr417=) rs1555070643
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.1281A>T (p.Leu427Phe) rs2080092432
NM_000051.4(ATM):c.1288T>C (p.Cys430Arg) rs2080092840
NM_000051.4(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1297T>C (p.Ser433Pro)
NM_000051.4(ATM):c.1298C>G (p.Ser433Cys) rs2135317776
NM_000051.4(ATM):c.1299T>G (p.Ser433=) rs1565382118
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1307T>C (p.Leu436Pro) rs1060501608
NM_000051.4(ATM):c.1313_1389delinsGACTCCATTAC (p.Ile438_Ala463delinsArgLeuHisTyr) rs1565382200
NM_000051.4(ATM):c.1314dup (p.Leu439fs) rs1555070739
NM_000051.4(ATM):c.1320T>G (p.Ser440=) rs2497241635
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe) rs1060501574
NM_000051.4(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1329A>T (p.Leu443=) rs201460863
NM_000051.4(ATM):c.132T>C (p.Asp44=) rs1555054149
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.4(ATM):c.1347G>A (p.Gly449=) rs1591523440
NM_000051.4(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.4(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.4(ATM):c.1369C>A (p.Arg457=) rs749036865
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>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
NM_000051.4(ATM):c.1375C>A (p.Leu459Ile) rs1064794635
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.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.4(ATM):c.1389A>G (p.Ala463=) rs2080102935
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.4(ATM):c.1410A>C (p.Ser470=) rs939650649
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.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.4(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.4(ATM):c.1437T>G (p.Asp479Glu) rs1565382937
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.1468A>G (p.Ile490Val) rs761850075
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.4(ATM):c.1478G>A (p.Arg493His) rs1565383235
NM_000051.4(ATM):c.147C>T (p.Ser49=) rs876660033
NM_000051.4(ATM):c.1482T>G (p.Gly494=) rs1335320350
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1483dup (p.Ile495fs) rs2135324290
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs) rs2497248654
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr) rs2080111322
NM_000051.4(ATM):c.1491T>C (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1496A>G (p.Gln499Arg) rs2080112384
NM_000051.4(ATM):c.1499T>C (p.Ile500Thr) rs2135324867
NM_000051.4(ATM):c.1502A>G (p.Gln501Arg) rs2135324965
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.1524T>C (p.Leu508=) rs559095379
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1526G>A (p.Gly509Glu) rs1591524556
NM_000051.4(ATM):c.1541G>T (p.Gly514Val) rs2235000
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1543A>G (p.Ser515Gly) rs2135326489
NM_000051.4(ATM):c.1544G>C (p.Ser515Thr) rs1555071168
NM_000051.4(ATM):c.1549G>T (p.Val517Phe) rs2080117236
NM_000051.4(ATM):c.1550T>A (p.Val517Asp) rs777986229
NM_000051.4(ATM):c.1551T>C (p.Val517=) rs553020161
NM_000051.4(ATM):c.1553A>T (p.Glu518Val) rs2080117672
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.1558G>A (p.Asp520Asn) rs2080118143
NM_000051.4(ATM):c.1560C>G (p.Asp520Glu) rs1591524777
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1568T>A (p.Phe523Tyr) rs768038315
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter) rs1060501667
NM_000051.4(ATM):c.1575G>A (p.Lys525=) 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.1581T>C (p.Phe527=) rs1555071227
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.4(ATM):c.1585G>A (p.Gly529Arg) rs1325651820
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu) rs2080120731
NM_000051.4(ATM):c.1596C>G (p.Cys532Trp) rs564050785
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.4(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>C (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1607+10G>C rs1555071298
NM_000051.4(ATM):c.1607+10G>T rs1555071298
NM_000051.4(ATM):c.1607+18del rs1259647838
NM_000051.4(ATM):c.1607+1G>A rs772926890
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1607+4A>G rs762770768
NM_000051.4(ATM):c.1607+5G>A rs766535949
NM_000051.4(ATM):c.1608-16C>T rs2080161173
NM_000051.4(ATM):c.1608-4A>G rs2080162473
NM_000051.4(ATM):c.1608-6T>G rs2080162256
NM_000051.4(ATM):c.1608-7G>A rs1555071656
NM_000051.4(ATM):c.1608-8del rs1064794419
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser) rs1165590160
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu) rs2080163350
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
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.1627A>T (p.Thr543Ser) rs2080165023
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.4(ATM):c.1636C>A (p.Leu546Met) rs2227924
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn) rs2080166953
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.4(ATM):c.1655C>A (p.Pro552Gln) rs2135340121
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro) rs1060788
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1668_1669del (p.Lys556fs) rs2135340446
NM_000051.4(ATM):c.1669A>G (p.Met557Val) rs1427517965
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
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.1680G>A (p.Glu560=) rs1555071815
NM_000051.4(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.168T>C (p.Asn56=) rs1591447362
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr) rs2135341638
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.1708T>A (p.Phe570Ile) rs2135341878
NM_000051.4(ATM):c.1714T>G (p.Leu572Val) rs749216212
NM_000051.4(ATM):c.1718dup (p.Glu574fs) rs2497271189
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>G (p.Met577Val) rs1555071919
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.172del (p.Asp58fs) rs1555054243
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.4(ATM):c.1734A>G (p.Lys578=) rs1555071939
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.4(ATM):c.173A>G (p.Asp58Gly) rs1378701359
NM_000051.4(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.4(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.4(ATM):c.1760G>T (p.Gly587Val) rs1060501553
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.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1785G>T (p.Val595=) rs2080179445
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.1792A>C (p.Ile598Leu) rs730881343
NM_000051.4(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.4(ATM):c.1798C>G (p.His600Asp) rs1555072089
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1802+13C>T rs1555072105
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.1802+18G>C rs1168327781
NM_000051.4(ATM):c.1802+20A>T rs1009750697
NM_000051.4(ATM):c.1803-15T>C rs2080225396
NM_000051.4(ATM):c.1803-15del rs1420491228
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1803-4G>A rs876659300
NM_000051.4(ATM):c.1803-8C>A rs778937998
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1813C>G (p.His605Asp) rs786202928
NM_000051.4(ATM):c.1819G>A (p.Val607Ile) rs878853489
NM_000051.4(ATM):c.1826A>T (p.Glu609Val) rs2080227710
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro) rs1555072474
NM_000051.4(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.4(ATM):c.1837G>A (p.Val613Met) rs200124136
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1845C>T (p.Leu615=) rs1349398596
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile) rs533129312
NM_000051.4(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.185+6C>G rs1555054299
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.186-10T>C rs773957101
NM_000051.4(ATM):c.186-18C>T rs1410616583
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1869A>G (p.Ala623=) rs1591531055
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1871T>C (p.Met624Thr) rs2080231163
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1886G>C (p.Ser629Thr) rs2080232076
NM_000051.4(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.4(ATM):c.1890G>T (p.Val630=) rs1555072586
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
NM_000051.4(ATM):c.1898+16A>G rs2080234530
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser) rs750371239
NM_000051.4(ATM):c.1899-11C>G rs730881282
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1899-15C>T rs759924007
NM_000051.4(ATM):c.1899-1G>A rs1555073065
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.4(ATM):c.189T>C (p.Phe63=) rs926466183
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1906C>T (p.His636Tyr) rs786203654
NM_000051.4(ATM):c.1907A>C (p.His636Pro) rs1333990758
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.1914A>G (p.Lys638=) rs587781753
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1927C>G (p.Leu643Val) rs1565389730
NM_000051.4(ATM):c.1929T>A (p.Leu643=) rs876659911
NM_000051.4(ATM):c.192dup (p.Gln65fs) rs1565346604
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1935C>T (p.Phe645=) rs876659709
NM_000051.4(ATM):c.1943T>G (p.Val648Gly) rs141175037
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys) rs786202511
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
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.1956T>G (p.Phe652Leu) rs587782544
NM_000051.4(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile) rs2080299187
NM_000051.4(ATM):c.1971T>G (p.Phe657Leu) rs1555073215
NM_000051.4(ATM):c.1972G>T (p.Asp658Tyr)
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu) rs2135368047
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.4(ATM):c.1978A>G (p.Met660Val) rs1555073240
NM_000051.4(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.4(ATM):c.1979_1981delinsAGA (p.Met660_Asp661delinsLysAsn) rs1565390104
NM_000051.4(ATM):c.1983C>T (p.Asp661=) rs2080301965
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2000_2003dup (p.Cys669fs) rs1555073282
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.2019del (p.Lys673fs) rs1591534511
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2030G>C (p.Ser677Thr) rs2080308052
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2036G>A (p.Gly679Asp) rs544123518
NM_000051.4(ATM):c.2037C>T (p.Gly679=) rs2135369641
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys) rs1060501585
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.4(ATM):c.204T>G (p.Ile68Met) rs2078883151
NM_000051.4(ATM):c.2058C>G (p.Leu686=) rs761397203
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.2064A>G (p.Glu688=) rs772739433
NM_000051.4(ATM):c.2080C>A (p.Leu694Ile) rs759617968
NM_000051.4(ATM):c.2094A>C (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu) rs786202743
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser) rs753903558
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2124+12del rs769051992
NM_000051.4(ATM):c.2124+12dup rs769051992
NM_000051.4(ATM):c.2124+19del rs35211268
NM_000051.4(ATM):c.2124+19dup rs35211268
NM_000051.4(ATM):c.2124+3G>C rs1193263660
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-17T>C rs1373576656
NM_000051.4(ATM):c.2125-19A>T rs2080469665
NM_000051.4(ATM):c.2125-3A>C rs1565394396
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-4dup rs2135391852
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2130A>G (p.Thr710=) rs2080472731
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2138A>C (p.Glu713Ala) rs1565394523
NM_000051.4(ATM):c.2139A>C (p.Glu713Asp) rs2080473610
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.2147T>C (p.Val716Ala) rs864622294
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2151G>A (p.Arg717=) rs1331738032
NM_000051.4(ATM):c.2156C>A (p.Ser719Ter) rs2080475075
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2169G>C (p.Val723=) rs878853491
NM_000051.4(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.4(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.4(ATM):c.2194A>C (p.Met732Leu)
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2197G>A (p.Gly733Ser) rs1565394966
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
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.2222A>T (p.Tyr741Phe) rs878853492
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.2229A>G (p.Ser743=) rs758453118
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2231A>C (p.Glu744Ala)
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2238C>G (p.Phe746Leu) rs786203595
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu) rs2080484145
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+4G>A rs1565395217
NM_000051.4(ATM):c.2250+8A>T rs1555075054
NM_000051.4(ATM):c.2250+9A>G rs755569951
NM_000051.4(ATM):c.2251-11A>T rs755369461
NM_000051.4(ATM):c.2251-13C>T rs1253767193
NM_000051.4(ATM):c.2251-15T>A rs1565396892
NM_000051.4(ATM):c.2251-15T>C rs1565396892
NM_000051.4(ATM):c.2251-18T>G rs1555075595
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-3T>C rs752951518
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2251-6C>T rs1555075617
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.2255dup (p.Met753fs) rs1565396965
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.4(ATM):c.2265T>C (p.Cys755=) rs2135405911
NM_000051.4(ATM):c.2278A>G (p.Ile760Val) rs1555075672
NM_000051.4(ATM):c.227G>A (p.Arg76Lys) rs1565346853
NM_000051.4(ATM):c.227G>T (p.Arg76Ile) rs1565346853
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala) rs2235011
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser) rs768430443
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.228A>C (p.Arg76Ser) rs1591451698
NM_000051.4(ATM):c.2292A>G (p.Lys764=)
NM_000051.4(ATM):c.2295T>C (p.Asn765=) rs1444950103
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser) rs2080577809
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter) rs1555075721
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly) rs1565397219
NM_000051.4(ATM):c.2319T>G (p.Ile773Met) rs2080578910
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.2329A>C (p.Arg777=) rs1565397263
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp) rs1555075751
NM_000051.4(ATM):c.2343G>A (p.Gln781=) rs2135407606
NM_000051.4(ATM):c.234A>G (p.Ala78=) rs1555055145
NM_000051.4(ATM):c.2351C>A (p.Thr784Lys) rs2135407791
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile) rs2135407791
NM_000051.4(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg) rs2135408164
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+18T>C rs1555075849
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+20_2376+22del rs1171212629
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2377-10T>C rs2497416091
NM_000051.4(ATM):c.2377-11C>G rs2080691297
NM_000051.4(ATM):c.2377-15T>C rs2080690965
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-17G>C rs192105604
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2377-9T>A rs2080691443
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala) rs1060501651
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2398T>C (p.Ser800Pro) rs2135420989
NM_000051.4(ATM):c.2399C>T (p.Ser800Phe) rs1196453563
NM_000051.4(ATM):c.239C>T (p.Pro80Leu) rs876659996
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2418G>A (p.Leu806=) rs587781296
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
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.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
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.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu) rs2080701196
NM_000051.4(ATM):c.2462del (p.Ser821fs) rs2080701610
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+16_2466+28del rs1555076777
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2466+4A>C rs563482577
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2466+8T>A rs765619483
NM_000051.4(ATM):c.2466A>C (p.Leu822Phe) rs747108452
NM_000051.4(ATM):c.2467-12T>C rs1469467036
NM_000051.4(ATM):c.2467-2A>G rs1555082050
NM_000051.4(ATM):c.2467-4G>A rs1555082048
NM_000051.4(ATM):c.2467-8C>A
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.4(ATM):c.2480A>C (p.Lys827Thr) rs372230498
NM_000051.4(ATM):c.2481A>G (p.Lys827=) rs2135505455
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2487A>T (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser) rs773582901
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr) rs1060501595
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2496T>A (p.Arg832=) rs2081302055
NM_000051.4(ATM):c.249A>C (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.2518G>C (p.Asp840His) rs879189597
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.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.4(ATM):c.2523T>C (p.Asp841=) rs758234872
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.4(ATM):c.2525C>T (p.Thr842Ile) rs1555082164
NM_000051.4(ATM):c.2526T>C (p.Thr842=) rs1565416272
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
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.2539A>T (p.Met847Leu) rs587779823
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.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2563A>T (p.Met855Leu) rs749844591
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.2579A>T (p.Asp860Val) rs761251711
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.2587G>C (p.Asp863His) rs2135508489
NM_000051.4(ATM):c.258A>G (p.Thr86=) rs777434093
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly) rs764842086
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.4(ATM):c.2593A>G (p.Ser865Gly) rs2081310612
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.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu) rs2081312461
NM_000051.4(ATM):c.2625C>T (p.Ser875=) rs1591588785
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.4(ATM):c.2627A>T (p.Gln876Leu) rs1555082348
NM_000051.4(ATM):c.2638+11A>G rs1057521911
NM_000051.4(ATM):c.2638+16C>A rs1386019726
NM_000051.4(ATM):c.2638+16C>G rs1386019726
NM_000051.4(ATM):c.2638+19C>A rs1439350674
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2638+5A>G rs2081314537
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+9A>C rs761592414
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2639-382_2639-377del rs1397425268
NM_000051.4(ATM):c.2639-384A>T rs1131691154
NM_000051.4(ATM):c.2639-9dup rs2497629375
NM_000051.4(ATM):c.263C>A (p.Ala88Asp) rs1565347056
NM_000051.4(ATM):c.2643C>T (p.Ala881=) rs2135523001
NM_000051.4(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.4(ATM):c.2652T>G (p.Pro884=) rs2081380644
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly) rs2081381149
NM_000051.4(ATM):c.265T>A (p.Ser89Thr)
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.4(ATM):c.2670G>A (p.Leu890=) rs1555083123
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.4(ATM):c.2678A>T (p.Gln893Leu) rs876659776
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>T (p.Ser89=) rs1555055198
NM_000051.4(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.4(ATM):c.2683C>G (p.Leu895Val)
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.2699T>G (p.Met900Arg) rs863224558
NM_000051.4(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.4(ATM):c.270G>A (p.Arg90=) rs1313014736
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu) rs730881353
NM_000051.4(ATM):c.2744C>G (p.Thr915Ser) rs876660912
NM_000051.4(ATM):c.2748_2749del (p.Ser917fs) rs2497635455
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.274A>G (p.Lys92Glu) rs756969590
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly) rs1591594384
NM_000051.4(ATM):c.2758G>T (p.Ala920Ser) rs1555083326
NM_000051.4(ATM):c.2759C>A (p.Ala920Glu) rs780216086
NM_000051.4(ATM):c.2759C>T (p.Ala920Val) rs780216086
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2762C>A (p.Ala921Asp) rs1555083332
NM_000051.4(ATM):c.2770C>A (p.Arg924=) rs55723361
NM_000051.4(ATM):c.277A>G (p.Lys93Glu) rs1555055234
NM_000051.4(ATM):c.2786T>A (p.Met929Lys) 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.2794G>A (p.Asp932Asn) rs2135526349
NM_000051.4(ATM):c.2799T>C (p.Ser933=) rs1555083381
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro) 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>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806C>G (p.Leu936Val) rs1422401186
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.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.2820A>G (p.Lys940=)
NM_000051.4(ATM):c.2821T>G (p.Ser941Ala) rs1209997887
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.282G>A (p.Met94Ile) rs2078889859
NM_000051.4(ATM):c.2832G>C (p.Leu944=) rs2135527476
NM_000051.4(ATM):c.2834A>G (p.His945Arg) rs752053874
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2839-8C>A rs1555084596
NM_000051.4(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln) rs2135547361
NM_000051.4(ATM):c.2845A>C (p.Met949Leu) rs1348704826
NM_000051.4(ATM):c.2845A>G (p.Met949Val) rs1348704826
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.2856G>A (p.Lys952=) rs2135547604
NM_000051.4(ATM):c.285G>C (p.Gln95His) rs1316615402
NM_000051.4(ATM):c.2865T>G (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu) rs752099312
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu) rs587779828
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2891A>T (p.Glu964Val) rs2081551575
NM_000051.4(ATM):c.2901T>C (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2901T>G (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2909T>A (p.Leu970Gln) rs587782521
NM_000051.4(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2916A>G (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2921+11A>G rs1565424678
NM_000051.4(ATM):c.2921+18T>C rs1565424709
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+24_2921+28del rs780315379
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2922-10_2922-8del rs373881770
NM_000051.4(ATM):c.2922-13T>C rs1565424946
NM_000051.4(ATM):c.2922-17T>C rs1565424925
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-21_2922-20delinsG rs1555084900
NM_000051.4(ATM):c.2922-21_2922-20delinsGG rs1555084898
NM_000051.4(ATM):c.2922-22_2922-20delinsGG rs1555084880
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2922-5C>T rs1452462211
NM_000051.4(ATM):c.2922-6C>A rs1346698280
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2939A>T (p.Tyr980Phe) rs1064794211
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.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.4(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.2985T>A (p.Leu995=) rs1555085087
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.2988T>C (p.His996=) rs559676197
NM_000051.4(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.2997A>G (p.Lys999=)
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu) rs1555085143
NM_000051.4(ATM):c.3008A>T (p.Gln1003Leu) rs1064815
NM_000051.4(ATM):c.300G>A (p.Leu100=) rs878853499
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.3023del (p.Ser1008fs) rs2135553794
NM_000051.4(ATM):c.3024T>C (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3029A>G (p.Asn1010Ser) rs2081573721
NM_000051.4(ATM):c.3039T>C (p.Asp1013=) rs1591604597
NM_000051.4(ATM):c.303C>G (p.Val101=) rs1555055291
NM_000051.4(ATM):c.303C>T (p.Val101=) rs1555055291
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter) rs2081575204
NM_000051.4(ATM):c.3047G>A (p.Gly1016Glu) rs1565425832
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val) rs1565425832
NM_000051.4(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.4(ATM):c.3055C>A (p.Leu1019Ile) rs863224560
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3071C>G (p.Ala1024Gly) rs746133264
NM_000051.4(ATM):c.3077+14A>G rs977758069
NM_000051.4(ATM):c.3077+18del rs1555085280
NM_000051.4(ATM):c.3077+19G>T rs1418513952
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3077+21_3077+23del rs1243820894
NM_000051.4(ATM):c.3077+8C>T rs752601608
NM_000051.4(ATM):c.3078-11C>A rs756972430
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-12dup rs2081636986
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter) rs876660869
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
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.3084A>C (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.4(ATM):c.3090G>A (p.Lys1030=) rs1591608292
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.3096G>T (p.Arg1032Ser) rs1555085805
NM_000051.4(ATM):c.3104T>C (p.Ile1035Thr) rs2135565634
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met) rs1565427678
NM_000051.4(ATM):c.3110C>T (p.Ser1037Phe) rs1555085821
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser) rs748752687
NM_000051.4(ATM):c.3133T>G (p.Cys1045Gly) rs1565427891
NM_000051.4(ATM):c.3138T>C (p.Leu1046=) rs3092858
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3147G>A (p.Leu1049=) rs1060501686
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.4(ATM):c.3153+10dup rs1565428079
NM_000051.4(ATM):c.3153+15_3153+16delinsA rs1555085918
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+19T>G rs1565428143
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+20del rs760492979
NM_000051.4(ATM):c.3153+20dup rs760492979
NM_000051.4(ATM):c.3153+3G>T rs1565428067
NM_000051.4(ATM):c.3153+4A>G rs1060501620
NM_000051.4(ATM):c.3153+5G>C rs1591608756
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-5_3154-4insAA rs1565428327
NM_000051.4(ATM):c.3154G>A (p.Ala1052Thr) rs1064793036
NM_000051.4(ATM):c.3164A>G (p.Tyr1055Cys) rs2081658652
NM_000051.4(ATM):c.3167C>T (p.Ser1056Leu) rs1565428419
NM_000051.4(ATM):c.3169A>C (p.Lys1057Gln) rs2135570125
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val) rs2081660483
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val) rs1565428509
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile) rs1480804197
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu) rs762810180
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.3199G>T (p.Asp1067Tyr) rs766342338
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu) rs1255200743
NM_000051.4(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3210A>G (p.Val1070=) rs1443665212
NM_000051.4(ATM):c.3225A>G (p.Thr1075=) rs1555086107
NM_000051.4(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr) rs1565428827
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3249C>G (p.His1083Gln) rs1246816005
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.3257G>T (p.Arg1086Leu) rs769857066
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3259A>G (p.Met1087Val) rs750140469
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr) rs1460583900
NM_000051.4(ATM):c.3261del (p.Met1087fs) rs1565429054
NM_000051.4(ATM):c.3262T>C (p.Leu1088=) rs2081670323
NM_000051.4(ATM):c.3265G>A (p.Ala1089Thr) rs730881358
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.4(ATM):c.3284+10C>G rs2081674914
NM_000051.4(ATM):c.3284+11A>C rs1565429231
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+20T>C rs1448789912
NM_000051.4(ATM):c.3285-12G>A rs1057521452
NM_000051.4(ATM):c.3285-12_3285-10delinsAC rs2082112773
NM_000051.4(ATM):c.3285-13del rs1245305174
NM_000051.4(ATM):c.3285-14T>C rs2082112216
NM_000051.4(ATM):c.3285-19T>C rs749167327
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3285A>T (p.Arg1095Ser) rs2082114209
NM_000051.4(ATM):c.3287T>G (p.Leu1096Trp) rs2082114508
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro) rs2082115524
NM_000051.4(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.331+6T>G rs1555055363
NM_000051.4(ATM):c.3315C>G (p.Ser1105=) rs1565439055
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-20_332-17del rs898739905
NM_000051.4(ATM):c.332-7G>A rs1591474291
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3322C>T (p.Leu1108=) rs1555090147
NM_000051.4(ATM):c.3326A>G (p.Lys1109Arg)
NM_000051.4(ATM):c.3332T>G (p.Leu1111Arg) rs876658363
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>T (p.Pro1112Leu) rs1064795850
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met) rs1022672642
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3345T>C (p.Leu1115=) rs2546862357
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg) rs755828033
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys) rs876660498
NM_000051.4(ATM):c.3381T>C (p.Ala1127=) rs1371503633
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.4(ATM):c.3384G>A (p.Gln1128=) rs1565439537
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile) rs1565439576
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3402+18G>C rs752000273
NM_000051.4(ATM):c.3402+1G>C rs1565439606
NM_000051.4(ATM):c.3403-13_3403-12insC rs1555091099
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-14_3403-13insT rs1555091097
NM_000051.4(ATM):c.3403-15delinsAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsAAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsATA rs1555091094
NM_000051.4(ATM):c.3403-16_3403-15inv
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.3403T>G (p.Ser1135Ala) rs1565441341
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr) rs2082202102
NM_000051.4(ATM):c.3406C>G (p.His1136Asp) rs2082202374
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn) rs876659633
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3414T>C (p.Ala1138=) rs1565441410
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.4(ATM):c.3419A>C (p.Asn1140Thr) rs2082203374
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala) rs2082203682
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.3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3435T>A (p.Asp1145Glu) rs2082204446
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val) rs769853739
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln) rs1555091196
NM_000051.4(ATM):c.345A>G (p.Leu115=) rs2079235213
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3475del (p.Ala1159fs) rs775160037
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile) rs1565441792
NM_000051.4(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.4(ATM):c.3490T>C (p.Cys1164Arg) rs2135667927
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.4(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.4(ATM):c.3499A>C (p.Ile1167Leu) rs1222634243
NM_000051.4(ATM):c.349T>G (p.Cys117Gly) rs1555059059
NM_000051.4(ATM):c.3501C>T (p.Ile1167=) rs1555091279
NM_000051.4(ATM):c.3503G>A (p.Cys1168Tyr) rs2135668336
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3512_3513del (p.Gln1171fs) rs2546870858
NM_000051.4(ATM):c.3514G>T (p.Ala1172Ser) rs779946941
NM_000051.4(ATM):c.3520T>G (p.Phe1174Val) rs547400704
NM_000051.4(ATM):c.3524C>T (p.Ala1175Val) rs2135669077
NM_000051.4(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.352C>T (p.Gln118Ter) rs2079235532
NM_000051.4(ATM):c.3538G>A (p.Val1180Met) rs1060501531
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3543A>G (p.Lys1181=) rs1555091382
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.3563A>C (p.His1188Pro) rs12786960
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.3569del (p.Val1190fs) rs2546871640
NM_000051.4(ATM):c.3571A>C (p.Lys1191Gln)
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg) rs1555091451
NM_000051.4(ATM):c.3576+687delinsTTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091761
NM_000051.4(ATM):c.3576+8T>C rs1591637198
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-11G>C rs2135685988
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3577-13_3577-12del rs730881288
NM_000051.4(ATM):c.3577-14T>C rs2082292356
NM_000051.4(ATM):c.3577-14_3577-12del rs730881288
NM_000051.4(ATM):c.3577-15T>C rs1057521733
NM_000051.4(ATM):c.3577-17_3577-16delinsA rs2082291998
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala) rs1591640918
NM_000051.4(ATM):c.3585G>A (p.Glu1195=) rs2082294869
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro) rs1555092260
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
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.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.4(ATM):c.3603T>C (p.Phe1201=) rs1591641079
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.360C>T (p.Leu120=) rs749489010
NM_000051.4(ATM):c.3616T>C (p.Leu1206=) rs2135687617
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.3624C>T (p.Asp1208=) rs2082298022
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter) rs1591641318
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys) rs1565444811
NM_000051.4(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.4(ATM):c.3661T>A (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter) rs2135689111
NM_000051.4(ATM):c.3667A>C (p.Asn1223His) rs1436681116
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3680C>T (p.Thr1227Ile) rs1229454563
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys) rs1591641518
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3690C>T (p.Asn1230=) rs1555092475
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
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.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3714A>T (p.Leu1238Phe) rs2082306739
NM_000051.4(ATM):c.3719A>G (p.Asn1240Ser) rs1555092536
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.4(ATM):c.372C>T (p.Ile124=) rs773495195
NM_000051.4(ATM):c.3735G>A (p.Glu1245=) rs1565445196
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.4(ATM):c.3741C>T (p.Phe1247=) rs780396420
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe) rs766226370
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.4(ATM):c.3746+18A>G rs2082310429
NM_000051.4(ATM):c.3746+20A>G rs1555092607
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3746+5G>A rs876658419
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-11T>C rs2135703873
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3748T>A (p.Ser1250Thr) rs1555093268
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.375G>A (p.Met125Ile) rs1591474725
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.3778del (p.Leu1259_Val1260insTer) rs2082375273
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter) rs1591645509
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser) rs1565447114
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn) 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.3800A>T (p.Glu1267Val) rs781357995
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu) rs1453429915
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg) rs770183693
NM_000051.4(ATM):c.3828A>G (p.Gln1276=) rs1318728821
NM_000051.4(ATM):c.382G>C (p.Val128Leu) rs587779835
NM_000051.4(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
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.3845T>G (p.Leu1282Arg) rs1591645828
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3856T>C (p.Cys1286Arg) rs2082381435
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val) rs1478504213
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886C>G (p.Pro1296Ala) rs864622654
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3887C>T (p.Pro1296Leu) rs2135707584
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3906T>C (p.Gly1302=) rs1565447594
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.4(ATM):c.390T>C (p.Asp130=) rs1565356801
NM_000051.4(ATM):c.3917G>C (p.Ser1306Thr) rs1555093629
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3922A>T (p.Met1308Leu) rs2135708488
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.4(ATM):c.3954C>G (p.Val1318=) rs2082387502
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.3965T>A (p.Leu1322His) rs786203306
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3989A>G (p.Lys1330Arg) rs1565447970
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-14T>A rs1255634399
NM_000051.4(ATM):c.3994-14T>G rs1255634399
NM_000051.4(ATM):c.3994-157_3994-156del rs1555095694
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-2A>C rs587782276
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.4(ATM):c.3996del (p.Ile1332fs) rs1555095807
NM_000051.4(ATM):c.4002_4005del (p.Leu1335fs) rs2546897717
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.401G>T (p.Gly134Val) rs771166271
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4022C>T (p.Pro1341Leu) rs1555095890
NM_000051.4(ATM):c.4024G>A (p.Glu1342Lys) rs1555095899
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.4(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.4(ATM):c.4050G>T (p.Thr1350=) rs770697446
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4053A>G (p.Leu1351=) rs1565452695
NM_000051.4(ATM):c.4073G>T (p.Ser1358Ile)
NM_000051.4(ATM):c.4081C>G (p.Gln1361Glu) rs121434222
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs) rs886039488
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.4092C>A (p.Asp1364Glu) rs876660956
NM_000051.4(ATM):c.4092C>T (p.Asp1364=) rs876660956
NM_000051.4(ATM):c.4095C>G (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4108G>C (p.Gly1370Arg) rs1301806793
NM_000051.4(ATM):c.4109+10T>A rs1236628481
NM_000051.4(ATM):c.4109+13T>C rs2082569194
NM_000051.4(ATM):c.4109+2dup
NM_000051.4(ATM):c.4109+6T>G rs368606937
NM_000051.4(ATM):c.4110-11A>T rs760715107
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-4T>G rs777186156
NM_000051.4(ATM):c.4110-6T>G
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4110-9C>T rs730881367
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4115del (p.Leu1372fs) rs2082638431
NM_000051.4(ATM):c.4123G>T (p.Ala1375Ser) rs2135750720
NM_000051.4(ATM):c.4125T>A (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
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.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4146del (p.Ser1383fs) rs2546904158
NM_000051.4(ATM):c.4149G>C (p.Ser1383=) rs749180334
NM_000051.4(ATM):c.4149G>T (p.Ser1383=) rs749180334
NM_000051.4(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.4(ATM):c.4155G>A (p.Val1385=) rs2082641997
NM_000051.4(ATM):c.4155G>T (p.Val1385=) rs2082641997
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4175delinsTG (p.Tyr1392fs) rs2135752319
NM_000051.4(ATM):c.4182C>T (p.Ser1394=) rs2082644520
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.4(ATM):c.4188T>C (p.Cys1396=) rs1565455129
NM_000051.4(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.4(ATM):c.4191T>C (p.His1397=)
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4198A>C (p.Lys1400Gln) rs587781950
NM_000051.4(ATM):c.4209C>T (p.Ser1403=) rs876658701
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.4(ATM):c.4226C>A (p.Ser1409Tyr) rs730881368
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg) rs2082647905
NM_000051.4(ATM):c.4236+11A>C rs368684533
NM_000051.4(ATM):c.4236+19T>G rs2082650329
NM_000051.4(ATM):c.4236+1G>A rs876660674
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4236+3A>G rs762329707
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4237-13_4237-12del rs1555097353
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-19A>G rs753311330
NM_000051.4(ATM):c.4237-7T>C rs1439775115
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4238A>G (p.Asp1413Gly) rs2082669585
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.423T>A (p.Cys141Ter) rs2135123918
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.4(ATM):c.4248G>C (p.Gln1416His) rs1233637041
NM_000051.4(ATM):c.4255C>T (p.Leu1419Phe)
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr) rs1555097395
NM_000051.4(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4271A>G (p.Glu1424Gly) rs1555097423
NM_000051.4(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.4(ATM):c.4287A>G (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.4(ATM):c.429C>T (p.Asn143=) rs1416280463
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.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.4(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.4(ATM):c.4335T>C (p.Phe1445=) rs761225071
NM_000051.4(ATM):c.4341T>C (p.Ser1447=) rs1565456454
NM_000051.4(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.4(ATM):c.4345T>C (p.Leu1449=) rs786201555
NM_000051.4(ATM):c.4348C>T (p.Leu1450=) rs1555097622
NM_000051.4(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.4(ATM):c.4353A>G (p.Lys1451=) rs1565456555
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
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.4380T>G (p.Ala1460=) rs1565456739
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4398A>T (p.Arg1466=) rs142728382
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.4(ATM):c.4419T>A (p.Ile1473=) rs2082685196
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met) rs2082685196
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.4423T>G (p.Tyr1475Asp) rs1475596724
NM_000051.4(ATM):c.442dup (p.Asp148fs) rs1555059380
NM_000051.4(ATM):c.4436+13T>C rs1555097905
NM_000051.4(ATM):c.4436+19C>G rs539302674
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4436+9C>T rs1565457090
NM_000051.4(ATM):c.4437-10C>T rs1397770130
NM_000051.4(ATM):c.4437-13C>G rs769462032
NM_000051.4(ATM):c.4437-14T>A rs900984301
NM_000051.4(ATM):c.4437-5A>G rs876658290
NM_000051.4(ATM):c.4437-7dup rs1565460797
NM_000051.4(ATM):c.4439C>G (p.Pro1480Arg) rs200456625
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.4458G>A (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.4(ATM):c.4461A>G (p.Ser1487=) rs2082859007
NM_000051.4(ATM):c.4462T>C (p.Leu1488=) rs1591673809
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu) rs201594549
NM_000051.4(ATM):c.4470C>T (p.Ser1490=) rs2135798259
NM_000051.4(ATM):c.4471T>G (p.Phe1491Val) rs587781944
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val) rs377595814
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe) rs878853510
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.4(ATM):c.4523A>G (p.Tyr1508Cys) rs1565461319
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.4532A>G (p.Asp1511Gly) rs1591674356
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val) rs1591674385
NM_000051.4(ATM):c.4536T>C (p.Ala1512=) rs1555099909
NM_000051.4(ATM):c.4537C>T (p.Leu1513=) rs2082867393
NM_000051.4(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.4(ATM):c.4551T>C (p.Leu1517=) rs1459998980
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
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.4578C>A (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4578C>G (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4584G>A (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4596G>A (p.Val1532=) rs2135802501
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe) rs745351684
NM_000051.4(ATM):c.4611+13C>T rs1565461868
NM_000051.4(ATM):c.4611+14T>G rs1270804277
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4611+6T>C rs1555100047
NM_000051.4(ATM):c.4611+8T>G rs1057522426
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4617G>A (p.Leu1539=) rs1179885415
NM_000051.4(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.4(ATM):c.4632C>G (p.Tyr1544Ter) rs2135810212
NM_000051.4(ATM):c.4636G>A (p.Val1546Met) rs1305696123
NM_000051.4(ATM):c.4653T>A (p.Asp1551Glu) rs2082915572
NM_000051.4(ATM):c.4658A>G (p.Glu1553Gly) rs587778075
NM_000051.4(ATM):c.465C>T (p.Tyr155=) rs2079245609
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe) rs1555100478
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn) rs2082917922
NM_000051.4(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.4(ATM):c.4687G>C (p.Asp1563His) rs1464587365
NM_000051.4(ATM):c.4700A>G (p.Asp1567Gly) rs1565463108
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys) rs1408892416
NM_000051.4(ATM):c.4723_4725delinsAGA (p.Arg1575=) rs2082921459
NM_000051.4(ATM):c.4725dup (p.Ile1576fs) rs1565463203
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val) rs2082921955
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg) rs2082922811
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met) rs1591677662
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.4(ATM):c.4752T>C (p.Ser1584=) rs1555100601
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.4(ATM):c.4767A>G (p.Ser1589=) rs1591677805
NM_000051.4(ATM):c.4772T>C (p.Leu1591Ser) rs1565463381
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp) rs1565463381
NM_000051.4(ATM):c.4776+10del rs878853512
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+20C>A rs1565463486
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4776+7A>C rs2082927524
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.4(ATM):c.4777-10del rs1398289633
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4777-16A>G rs942981609
NM_000051.4(ATM):c.4777-1_4777insTTACATTTACATTTTAGTTAATTTTAG rs1555101604
NM_000051.4(ATM):c.4777-5_4795del rs2546941907
NM_000051.4(ATM):c.4777-7C>G rs1565465976
NM_000051.4(ATM):c.4777-7C>T rs1565465976
NM_000051.4(ATM):c.4777-7_4777-6del rs1064794458
NM_000051.4(ATM):c.4777-9C>T rs1214975942
NM_000051.4(ATM):c.4782del (p.Asn1595fs) rs2546942102
NM_000051.4(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.4(ATM):c.4806T>C (p.Val1602=) rs2135834471
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.4(ATM):c.4809T>C (p.Tyr1603=) rs2546942707
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val) rs746103632
NM_000051.4(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.4(ATM):c.4824G>A (p.Leu1608=) rs1239479673
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.4831C>G (p.Leu1611Val) rs1026156596
NM_000051.4(ATM):c.4835A>C (p.Glu1612Ala) rs1555101776
NM_000051.4(ATM):c.483G>A (p.Gln161=) rs864622742
NM_000051.4(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.4(ATM):c.4845G>C (p.Lys1615Asn) rs888498126
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.4(ATM):c.4851T>C (p.Leu1617=) rs2135836094
NM_000051.4(ATM):c.4861C>T (p.Leu1621=) rs759289039
NM_000051.4(ATM):c.4866A>C (p.Glu1622Asp)
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg) rs786203857
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4889_4901dup (p.Ser1635fs) rs1565466585
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.489G>C (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.4909G>A (p.Asp1637Asn) rs753870656
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.4910-5del rs2083173551
NM_000051.4(ATM):c.4910-7T>C rs3092872
NM_000051.4(ATM):c.4915C>G (p.Pro1639Ala) rs1565469722
NM_000051.4(ATM):c.4916del (p.Pro1639fs) rs2083174891
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly) rs2135861423
NM_000051.4(ATM):c.4924G>C (p.Gly1642Arg) rs2135861446
NM_000051.4(ATM):c.492G>T (p.Trp164Cys) rs1555059530
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu) rs757381170
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.4941A>G (p.Leu1647=) rs786201667
NM_000051.4(ATM):c.4944_4946del (p.Val1649del) rs2135862163
NM_000051.4(ATM):c.4945G>A (p.Val1649Ile) rs1565469893
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe) rs786201297
NM_000051.4(ATM):c.495A>C (p.Leu165Phe) rs1555059544
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+14GTT[2] rs1330640039
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+20G>A rs751245102
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.496+8T>C rs2135126803
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg) rs2083179153
NM_000051.4(ATM):c.4969A>G (p.Met1657Val) rs1060501656
NM_000051.4(ATM):c.496G>A (p.Glu166Lys) rs1565357473
NM_000051.4(ATM):c.497-18T>C rs1555066191
NM_000051.4(ATM):c.497-19A>G rs894871243
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-20A>T rs2079692832
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.497-2662A>G
NM_000051.4(ATM):c.497-2662AAG[2]
NM_000051.4(ATM):c.497-2662AAG[3] rs1016995551
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-4T>A rs876659621
NM_000051.4(ATM):c.497-9T>G rs2079693632
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr) rs1591692950
NM_000051.4(ATM):c.4983C>T (p.His1661=) rs2083180642
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.49C>G (p.His17Asp) rs876658161
NM_000051.4(ATM):c.5002C>G (p.Leu1668Val) rs747317946
NM_000051.4(ATM):c.5005+10A>T rs2083183551
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5005+17C>A rs200688912
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5005+19C>G rs1064794787
NM_000051.4(ATM):c.5005+2T>G rs2083182794
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.5006-15A>G rs2083314552
NM_000051.4(ATM):c.5006-3T>A rs761297488
NM_000051.4(ATM):c.5006-9T>C rs1565473375
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile) rs1057523385
NM_000051.4(ATM):c.5011G>C (p.Val1671Leu) rs1057523385
NM_000051.4(ATM):c.5018GCT[1] (p.Cys1674del) rs1555104505
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.4(ATM):c.5021G>T (p.Cys1674Phe) rs1555104518
NM_000051.4(ATM):c.5024T>G (p.Leu1675Trp) rs2546964010
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.4(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.4(ATM):c.5040T>G (p.Pro1680=) rs2135889032
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
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.5050T>A (p.Ser1684Thr) rs1591702098
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val) rs1591702201
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5070T>C (p.His1690=) rs1555104631
NM_000051.4(ATM):c.5076A>G (p.Lys1692=) rs767841041
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val) rs1591702387
NM_000051.4(ATM):c.5086T>G (p.Tyr1696Asp) rs1591702471
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe) rs1555104673
NM_000051.4(ATM):c.508G>A (p.Val170Met) rs786202781
NM_000051.4(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5098del (p.Lys1701fs) rs1555104689
NM_000051.4(ATM):c.50A>G (p.His17Arg) rs1242444722
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
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.5115T>C (p.Asp1705=) rs876658685
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser) rs1291016764
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile) rs1291016764
NM_000051.4(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5149T>A (p.Tyr1717Asn)
NM_000051.4(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.4(ATM):c.5152C>T (p.Leu1718=) rs2135892581
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
NM_000051.4(ATM):c.5162dup (p.Leu1722fs) rs2083337165
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs) rs2083336878
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile) rs1565474312
NM_000051.4(ATM):c.5171A>C (p.Glu1724Ala) rs2135893191
NM_000051.4(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+3G>A rs774216164
NM_000051.4(ATM):c.5177+4A>C rs2083338902
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-11G>T rs200876654
NM_000051.4(ATM):c.5178-14A>G rs2135911243
NM_000051.4(ATM):c.5178-18T>G rs1057522381
NM_000051.4(ATM):c.5178-20A>G rs1565476588
NM_000051.4(ATM):c.5178-4dup rs747750958
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.5180T>A (p.Val1727Asp) rs2083435874
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg) rs1060501613
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5190A>T (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.519G>T (p.Arg173Ser) rs587781391
NM_000051.4(ATM):c.5204C>G (p.Thr1735Ser) rs1555105650
NM_000051.4(ATM):c.5210del (p.Cys1736_Leu1737insTer) rs1555105660
NM_000051.4(ATM):c.5213A>G (p.Lys1738Arg) rs2546973025
NM_000051.4(ATM):c.5216_5218delinsCCT (p.Asn1739_Ile1740delinsThrPhe) rs2546973062
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.4(ATM):c.5226C>T (p.Ala1742=) rs750881004
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.4(ATM):c.5228C>A (p.Thr1743Lys) rs587779844
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu) rs879254135
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg) rs2083440966
NM_000051.4(ATM):c.5246T>G (p.Phe1749Cys) rs1591708790
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.4(ATM):c.5256T>A (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5257T>C (p.Tyr1753His) rs2135913864
NM_000051.4(ATM):c.5258A>C (p.Tyr1753Ser) rs777481236
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5262G>A (p.Lys1754=) rs748900588
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu) rs151327241
NM_000051.4(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.4(ATM):c.5284G>A (p.Ala1762Thr) rs2083444037
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val) rs2083444552
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.4(ATM):c.5297C>G (p.Pro1766Arg)
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser) rs864622125
NM_000051.4(ATM):c.5303G>A (p.Arg1768Lys) rs2083445472
NM_000051.4(ATM):c.5304A>G (p.Arg1768=) rs1591709095
NM_000051.4(ATM):c.530A>G (p.Lys177Arg) rs2135222838
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5319+5C>G rs1565477462
NM_000051.4(ATM):c.5319+5C>T rs1565477462
NM_000051.4(ATM):c.5319+6_5319+7insGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAATAAAATAAAAAAAAAGGTCTCT rs2135915800
NM_000051.4(ATM):c.5320-12C>G rs2083494676
NM_000051.4(ATM):c.5320-13C>T rs1565478723
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.5320-18T>G rs2083494233
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5320-6_5320-3del rs864622386
NM_000051.4(ATM):c.5320-8C>T rs2083495309
NM_000051.4(ATM):c.5325A>C (p.Leu1775Phe) rs2083496679
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.5329_5331del (p.Val1777del) rs2135927016
NM_000051.4(ATM):c.532C>T (p.Pro178Ser) rs786201807
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser) rs369351803
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys) rs2083497990
NM_000051.4(ATM):c.5347G>C (p.Glu1783Gln) rs2083498434
NM_000051.4(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.534T>G (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.4(ATM):c.5353C>T (p.Pro1785Ser) rs587779848
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.4(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.4(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.4(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.4(ATM):c.5399A>G (p.Glu1800Gly) rs2083502112
NM_000051.4(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.4(ATM):c.5401A>G (p.Asn1801Asp) rs2083502328
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.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416A>C (p.Ile1806Leu) rs1565479163
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.541G>A (p.Asp181Asn) rs2079698928
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro) rs2083504168
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter) rs2083505270
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5445C>T (p.Asp1815=)
NM_000051.4(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5458A>C (p.Lys1820Gln) rs2135930421
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
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.5476T>A (p.Leu1826Ile) rs1555106563
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val) rs1555106563
NM_000051.4(ATM):c.5476TTA[1] (p.Leu1827del) rs1591712957
NM_000051.4(ATM):c.5488A>C (p.Met1830Leu) rs587781622
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.5490G>A (p.Met1830Ile) rs779720793
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496+13_5496+16del rs1382076363
NM_000051.4(ATM):c.5496+14T>G rs1172938746
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5496+4A>G rs1565479590
NM_000051.4(ATM):c.5497-10T>C rs1457831101
NM_000051.4(ATM):c.5497-19A>G rs1555107231
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.5497-5T>G rs2546986621
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.4(ATM):c.5501A>G (p.Lys1834Arg) rs776122081
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5519C>G (p.Thr1840Ser) rs2083591643
NM_000051.4(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.4(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.4(ATM):c.5534T>C (p.Leu1845Ser) rs1555107319
NM_000051.4(ATM):c.553G>C (p.Val185Leu) rs2497130781
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5557_5558delinsAT (p.Asp1853Ile) rs1555107380
NM_000051.4(ATM):c.5559T>A (p.Asp1853Glu) rs1555107393
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln) rs1465041573
NM_000051.4(ATM):c.556T>G (p.Leu186Val) rs2079700064
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg) rs2083597320
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5575A>C (p.Arg1859=) rs1565481925
NM_000051.4(ATM):c.5575A>G (p.Arg1859Gly) rs1565481925
NM_000051.4(ATM):c.5579A>G (p.Asn1860Ser) rs2083597981
NM_000051.4(ATM):c.5580T>C (p.Asn1860=) rs2083598099
NM_000051.4(ATM):c.5583G>T (p.Leu1861=) rs781383087
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.5586T>G (p.Leu1862=) rs1555107431
NM_000051.4(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.4(ATM):c.558A>G (p.Leu186=) rs991667156
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.4(ATM):c.5593C>T (p.His1865Tyr)
NM_000051.4(ATM):c.5596G>T (p.Val1866Phe) rs1468995507
NM_000051.4(ATM):c.5599del (p.Gln1867fs) rs2546987787
NM_000051.4(ATM):c.559G>A (p.Val187Met) rs1060501614
NM_000051.4(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.4(ATM):c.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.4(ATM):c.5604A>G (p.Gly1868=) rs959560473
NM_000051.4(ATM):c.5609dup (p.Thr1871fs) rs2083601046
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.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.4(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.4(ATM):c.5628C>T (p.His1876=) rs1237700879
NM_000051.4(ATM):c.5630T>G (p.Phe1877Cys) rs202028401
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5637A>G (p.Gln1879=) rs587781993
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.5645G>C (p.Arg1882Pro) rs587782236
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.5653A>G (p.Thr1885Ala) rs587779850
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile) rs2083606342
NM_000051.4(ATM):c.565A>C (p.Arg189=) rs2079701086
NM_000051.4(ATM):c.5661A>T (p.Ala1887=) rs876658939
NM_000051.4(ATM):c.5666T>G (p.Leu1889Trp) rs1555107606
NM_000051.4(ATM):c.5674+13A>G rs1555107618
NM_000051.4(ATM):c.5674+14T>C rs2083608444
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter) rs730881375
NM_000051.4(ATM):c.5675-11_5675-10del rs2083812557
NM_000051.4(ATM):c.5675-15A>G rs1565485867
NM_000051.4(ATM):c.5675-2A>G rs2083814855
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5698T>A (p.Cys1900Ser) rs2083817433
NM_000051.4(ATM):c.5698T>C (p.Cys1900Arg) rs2083817433
NM_000051.4(ATM):c.56G>A (p.Arg19Lys) rs1064793029
NM_000051.4(ATM):c.56G>C (p.Arg19Thr) rs1064793029
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly) rs1565486057
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs) rs1565486174
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys) rs377289524
NM_000051.4(ATM):c.5757A>G (p.Gln1919=) rs1555109182
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs) rs1555109177
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5762+10T>G rs1276744102
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5762_5763del (p.Arg1921fs) rs1565486341
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.578C>T (p.Ala193Val) rs1064793928
NM_000051.4(ATM):c.580G>T (p.Val194Phe) rs1591500206
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.606_618delinsAG (p.Asp203fs) rs2079704928
NM_000051.4(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.632A>T (p.Asp211Val) rs1387925127
NM_000051.4(ATM):c.633C>T (p.Asp211=) rs1060501634
NM_000051.4(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.4(ATM):c.639T>C (p.Phe213=) rs2135226818
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.646G>C (p.Ala216Pro) rs2235002
NM_000051.4(ATM):c.648T>A (p.Ala216=) rs770270310
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.650_651dup (p.Gln218fs) rs2079709372
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.662+13C>G rs1565369998
NM_000051.4(ATM):c.662+18T>C rs2079712629
NM_000051.4(ATM):c.662+18del rs1565370014
NM_000051.4(ATM):c.662+6C>G rs1565369978
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.665A>C (p.Gln222Pro) rs1565370993
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.4(ATM):c.683G>C (p.Gly228Ala) rs2079754821
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs) rs2135237416
NM_000051.4(ATM):c.687A>C (p.Leu229=) rs3218706
NM_000051.4(ATM):c.687A>G (p.Leu229=) rs3218706
NM_000051.4(ATM):c.68G>C (p.Arg23Pro) rs587779858
NM_000051.4(ATM):c.68G>T (p.Arg23Leu)
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.695T>G (p.Ile232Ser) rs786203502
NM_000051.4(ATM):c.695del (p.Ile232fs) rs2497147562
NM_000051.4(ATM):c.699AGC[1] (p.Ala235del) rs1591503522
NM_000051.4(ATM):c.6T>A (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.70A>G (p.Lys24Glu) rs1469464426
NM_000051.4(ATM):c.710C>A (p.Thr237Asn)
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.711T>C (p.Thr237=) rs1294159555
NM_000051.4(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.4(ATM):c.72+16A>C rs1565344289
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.73-3del rs1565344403
NM_000051.4(ATM):c.73-4T>C rs1565344387
NM_000051.4(ATM):c.73-4dup rs2078815843
NM_000051.4(ATM):c.733G>A (p.Val245Ile) rs1555067081
NM_000051.4(ATM):c.736A>G (p.Asn246Asp)
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.741dup (p.Arg248fs) rs1131691161
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.748C>G (p.Arg250Gly) rs772821016
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.752T>C (p.Val251Ala) rs1591503977
NM_000051.4(ATM):c.756T>C (p.Cys252=) rs2079762952
NM_000051.4(ATM):c.75_78del rs1565344409
NM_000051.4(ATM):c.761T>C (p.Leu254Ser) rs776428526
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.4(ATM):c.764G>A (p.Gly255Glu) rs2135240183
NM_000051.4(ATM):c.764_766del (p.Gly255del) rs766716803
NM_000051.4(ATM):c.773T>A (p.Ile258Asn) rs730881337
NM_000051.4(ATM):c.776T>A (p.Leu259His) rs1565371619
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.801T>C (p.Thr267=) rs1555067173
NM_000051.4(ATM):c.807dup (p.Arg270Ter) rs2497151880
NM_000051.4(ATM):c.808A>G (p.Arg270Gly) rs2135241589
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.811C>T (p.Leu271Phe) rs730881339
NM_000051.4(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.821C>T (p.Ser274Phe) rs1591504377
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.844T>C (p.Leu282=) rs1565371944
NM_000051.4(ATM):c.84_85del (p.Lys29fs) rs2078817543
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.4(ATM):c.857A>G (p.Gln286Arg) rs1591504622
NM_000051.4(ATM):c.862T>C (p.Tyr288His) rs1565372057
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.866T>C (p.Ile289Thr) rs35261362
NM_000051.4(ATM):c.875C>G (p.Pro292Arg) rs747727055
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.894A>C (p.Gln298His) rs1555067327
NM_000051.4(ATM):c.895G>C (p.Glu299Gln) rs1273332798
NM_000051.4(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.4(ATM):c.901+17T>C rs774302699
NM_000051.4(ATM):c.901+18A>G rs1555067368
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.901+4T>G rs1591504958
NM_000051.4(ATM):c.901+8G>A rs1468806933
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.902-10del rs1565374819
NM_000051.4(ATM):c.902-2A>T rs2079877131
NM_000051.4(ATM):c.902-6T>A rs2079876827
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.4(ATM):c.905C>A (p.Ala302Asp)
NM_000051.4(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.4(ATM):c.911A>C (p.Glu304Ala) rs2135264712
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>G (p.Thr306Arg) rs1565374923
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.935dup (p.Leu312fs) rs2079879604
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.4(ATM):c.942C>T (p.Asn314=) rs2135265647
NM_000051.4(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn) rs142317485
NM_000051.4(ATM):c.948T>C (p.Tyr316=) rs775091961
NM_000051.4(ATM):c.954G>C (p.Leu318=)
NM_000051.4(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.4(ATM):c.966G>C (p.Glu322Asp) rs2135266459
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.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.4(ATM):c.982A>C (p.Ser328Arg) rs1555068433
NM_000051.4(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.4(ATM):c.987A>G (p.Arg329=) rs2079884541
NM_000051.4(ATM):c.990A>T (p.Gly330=) rs1555068447
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.993G>C (p.Lys331Asn) rs786202048
NM_000051.4(ATM):c.998C>G (p.Ser333Cys)
NM_000051.4(ATM):c.9A>G (p.Leu3=) rs1555053869

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