ClinVar Miner

List of variants in gene MEGF8 studied for acrocephalopolysyndactyly

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 530
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=) rs61995685 0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=) rs149155949 0.04455
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783 0.02385
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598 0.01653
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405 0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681 0.00470
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998 0.00407
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135 0.00308
NM_001271938.2(MEGF8):c.5488+12T>C rs188285054 0.00284
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596 0.00266
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204 0.00251
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456 0.00186
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667 0.00177
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001271938.2(MEGF8):c.5344-14C>T rs369531263 0.00097
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679 0.00096
NM_001271938.2(MEGF8):c.7136+10A>C rs750945705 0.00096
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) rs367649187 0.00091
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223 0.00074
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=) rs371191311 0.00067
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083 0.00063
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=) rs148792547 0.00058
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442 0.00055
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248 0.00051
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608 0.00048
NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu) rs570125469 0.00045
NM_001271938.2(MEGF8):c.6274-9C>G rs373417416 0.00041
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390 0.00037
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238 0.00034
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477 0.00031
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met) rs141221243 0.00031
NM_001271938.2(MEGF8):c.5512A>G (p.Met1838Val) rs200501111 0.00031
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663 0.00031
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) rs143215498 0.00029
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958 0.00027
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119 0.00026
NM_001271938.2(MEGF8):c.4041C>T (p.Phe1347=) rs148895205 0.00026
NM_001271938.2(MEGF8):c.1275T>C (p.Leu425=) rs370779185 0.00025
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) rs368693886 0.00025
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp) rs372257661 0.00025
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met) rs372955721 0.00024
NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=) rs374532854 0.00023
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585 0.00022
NM_001271938.2(MEGF8):c.740-6C>T rs372546741 0.00020
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu) rs139959427 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363 0.00018
NM_001271938.2(MEGF8):c.5937G>A (p.Arg1979=) rs200310970 0.00017
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln) rs773886995 0.00016
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594 0.00016
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=) rs149716961 0.00016
NM_001271938.2(MEGF8):c.5559G>A (p.Leu1853=) rs36016565 0.00016
NM_001271938.2(MEGF8):c.2987+11del rs755747202 0.00015
NM_001271938.2(MEGF8):c.351+4A>G rs753271808 0.00015
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576 0.00015
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) rs148207079 0.00014
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) rs373631162 0.00014
NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=) rs541175277 0.00014
NM_001271938.2(MEGF8):c.5343+9T>G rs374168560 0.00014
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) rs139601509 0.00014
NM_001271938.2(MEGF8):c.1933+10C>T rs763206386 0.00013
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp) rs370522595 0.00013
NM_001271938.2(MEGF8):c.351+10G>A rs374212597 0.00013
NM_001271938.2(MEGF8):c.7047C>T (p.Ala2349=) rs369359832 0.00012
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) rs200910137 0.00011
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469 0.00011
NM_001271938.2(MEGF8):c.4662G>A (p.Ala1554=) rs759312023 0.00011
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His) rs759275421 0.00011
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met) rs760894129 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser) rs549617171 0.00010
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=) rs764014679 0.00010
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 0.00009
NM_001271938.2(MEGF8):c.2436G>A (p.Ser812=) rs199938628 0.00009
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016 0.00009
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp) rs200195292 0.00009
NM_001271938.2(MEGF8):c.7407G>A (p.Ala2469=) rs111595088 0.00009
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=) rs138179740 0.00009
NM_001271938.2(MEGF8):c.2919C>T (p.His973=) rs766105588 0.00008
NM_001271938.2(MEGF8):c.3456G>A (p.Pro1152=) rs200838638 0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile) rs77422116 0.00008
NM_001271938.2(MEGF8):c.6909C>T (p.His2303=) rs552181649 0.00008
NM_001271938.2(MEGF8):c.2856-4C>G rs749739307 0.00007
NM_001271938.2(MEGF8):c.3761+19C>A rs371147358 0.00007
NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=) rs142473307 0.00007
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser) rs370106282 0.00007
NM_001271938.2(MEGF8):c.5382G>A (p.Gly1794=) rs905021679 0.00007
NM_001271938.2(MEGF8):c.6426G>A (p.Gly2142=) rs772127120 0.00007
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys) rs143643113 0.00007
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547 0.00006
NM_001271938.2(MEGF8):c.1789-5C>T rs752609842 0.00006
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln) rs146355445 0.00006
NM_001271938.2(MEGF8):c.2784G>A (p.Ala928=) rs750686408 0.00006
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys) rs762398666 0.00006
NM_001271938.2(MEGF8):c.3951C>T (p.Pro1317=) rs139891048 0.00006
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950 0.00006
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp) rs772299336 0.00006
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr) rs757924699 0.00006
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131 0.00006
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=) rs372437317 0.00006
NM_001271938.2(MEGF8):c.7311C>T (p.Gly2437=) rs375011847 0.00006
NM_001271938.2(MEGF8):c.7713G>A (p.Pro2571=) rs200748447 0.00006
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr) rs373293709 0.00006
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=) rs746659886 0.00005
NM_001271938.2(MEGF8):c.352-5C>T rs180788941 0.00005
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp) rs371283114 0.00005
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val) rs746330794 0.00005
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys) rs142361779 0.00005
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp) rs139859934 0.00005
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=) rs200526872 0.00005
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu) rs769598183 0.00005
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) rs766621187 0.00005
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.3350+11C>T rs201865376 0.00004
NM_001271938.2(MEGF8):c.3957C>A (p.Thr1319=) rs754753739 0.00004
NM_001271938.2(MEGF8):c.3990C>T (p.Pro1330=) rs141015952 0.00004
NM_001271938.2(MEGF8):c.4416C>T (p.Ala1472=) rs139822806 0.00004
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234 0.00004
NM_001271938.2(MEGF8):c.6059-18C>A rs565505835 0.00004
NM_001271938.2(MEGF8):c.6274-8C>G rs543093080 0.00004
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His) rs370984978 0.00004
NM_001271938.2(MEGF8):c.6588C>T (p.His2196=) rs751105144 0.00004
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met) rs370225382 0.00004
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys) rs753671779 0.00004
NM_001271938.2(MEGF8):c.7893C>T (p.Ala2631=) rs150486662 0.00004
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg) rs770472361 0.00004
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074 0.00004
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met) rs376248434 0.00004
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.1707C>T (p.Ser569=) rs201780276 0.00003
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg) rs754432292 0.00003
NM_001271938.2(MEGF8):c.2961C>T (p.His987=) rs760802467 0.00003
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678 0.00003
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu) rs768036287 0.00003
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=) rs144358189 0.00003
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu) rs757227265 0.00003
NM_001271938.2(MEGF8):c.5556C>T (p.Arg1852=) rs756300122 0.00003
NM_001271938.2(MEGF8):c.5601G>C (p.Leu1867=) rs772768540 0.00003
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp) rs529688057 0.00003
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His) rs771233244 0.00003
NM_001271938.2(MEGF8):c.5907T>C (p.Asn1969=) rs751281117 0.00003
NM_001271938.2(MEGF8):c.6093C>T (p.Thr2031=) rs992577271 0.00003
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=) rs149735243 0.00003
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507 0.00003
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688 0.00003
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe) rs1064796651 0.00002
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp) rs769862975 0.00002
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu) rs993849381 0.00002
NM_001271938.2(MEGF8):c.2724C>T (p.His908=) rs752713774 0.00002
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln) rs1460568797 0.00002
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys) rs760894078 0.00002
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596 0.00002
NM_001271938.2(MEGF8):c.5364C>T (p.His1788=) rs1038902556 0.00002
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val) rs768713408 0.00002
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys) rs777955709 0.00002
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys) rs1205847294 0.00002
NM_001271938.2(MEGF8):c.6540C>T (p.Asp2180=) rs781099770 0.00002
NM_001271938.2(MEGF8):c.6834+11C>T rs369152755 0.00002
NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly) rs1016429941 0.00002
NM_001271938.2(MEGF8):c.7099C>T (p.Leu2367=) rs768745459 0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) rs758007485 0.00002
NM_001271938.2(MEGF8):c.739+3G>A rs772336647 0.00002
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335 0.00002
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln) rs764185083 0.00002
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp) rs768902189 0.00002
NM_001271938.2(MEGF8):c.123A>G (p.Pro41=) rs964840099 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621 0.00001
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606 0.00001
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498 0.00001
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys) rs747026334 0.00001
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys) rs761382753 0.00001
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln) rs368683081 0.00001
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln) rs775071124 0.00001
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln) rs758585947 0.00001
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp) rs1374279391 0.00001
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys) rs763111888 0.00001
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=) rs780556649 0.00001
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser) rs977777127 0.00001
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp) rs892173452 0.00001
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys) rs377750684 0.00001
NM_001271938.2(MEGF8):c.3804C>T (p.Leu1268=) rs780442723 0.00001
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252 0.00001
NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys) rs374942873 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 0.00001
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His) rs749669318 0.00001
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln) rs372798483 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys) rs774288940 0.00001
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly) rs764246520 0.00001
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys) rs771890594 0.00001
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn) rs747286989 0.00001
NM_001271938.2(MEGF8):c.5583A>C (p.Gly1861=) rs746270596 0.00001
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu) rs766493787 0.00001
NM_001271938.2(MEGF8):c.5853C>A (p.Thr1951=) rs754567747 0.00001
NM_001271938.2(MEGF8):c.6059-16C>T rs760323076 0.00001
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780 0.00001
NM_001271938.2(MEGF8):c.610C>T (p.Leu204=) rs1351465017 0.00001
NM_001271938.2(MEGF8):c.6261C>T (p.Ser2087=) rs2039558834 0.00001
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.6482-9C>T rs776227273 0.00001
NM_001271938.2(MEGF8):c.6693A>C (p.Ser2231=) rs746097325 0.00001
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys) rs1438199181 0.00001
NM_001271938.2(MEGF8):c.6936C>A (p.Ile2312=) rs764031754 0.00001
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704 0.00001
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=) rs775919574 0.00001
NM_001271938.2(MEGF8):c.7368G>A (p.Thr2456=) rs779163527 0.00001
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp) rs769584545 0.00001
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val) rs773102301 0.00001
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu) rs749183655 0.00001
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile) rs375853163 0.00001
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=) rs1461151357 0.00001
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser) rs779537526 0.00001
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val) rs975858414 0.00001
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser) rs753588973 0.00001
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys) rs1298003744 0.00001
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly) rs535520607 0.00001
NM_001271938.2(MEGF8):c.948C>A (p.Gly316=) rs971549656 0.00001
NC_000019.10:g.(?_42370701)_(42370831_?)del
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_001271938.2(MEGF8):c.1005A>G (p.Ala335=) rs2039124115
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
NM_001271938.2(MEGF8):c.1137G>C (p.Val379=) rs1219090266
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
NM_001271938.2(MEGF8):c.1245-11T>G
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val) rs764773192
NM_001271938.2(MEGF8):c.1497G>A (p.Pro499=)
NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)
NM_001271938.2(MEGF8):c.1669-8C>T
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=) rs749153853
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1934-12C>G rs2147465024
NM_001271938.2(MEGF8):c.1934-21_1934-18del rs2039263296
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) rs2039264644
NM_001271938.2(MEGF8):c.2073G>A (p.Pro691=)
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
NM_001271938.2(MEGF8):c.2340G>A (p.Thr780=) rs776196677
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
NM_001271938.2(MEGF8):c.2355C>A (p.Arg785=)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser) rs2147472784
NM_001271938.2(MEGF8):c.2499+1G>A
NM_001271938.2(MEGF8):c.2500-10C>T
NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)
NM_001271938.2(MEGF8):c.2643C>T (p.Cys881=)
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu) rs2039350288
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) rs777017134
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)
NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg) rs771693018
NM_001271938.2(MEGF8):c.2855+12T>C
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
NM_001271938.2(MEGF8):c.2982C>T (p.Asp994=)
NM_001271938.2(MEGF8):c.3057C>T (p.His1019=)
NM_001271938.2(MEGF8):c.319C>T (p.Arg107Ter)
NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)
NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
NM_001271938.2(MEGF8):c.3294C>T (p.Tyr1098=)
NM_001271938.2(MEGF8):c.3350+12G>A
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.3351-11C>T
NM_001271938.2(MEGF8):c.3351-2A>C rs2039397653
NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) rs2039399285
NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)
NM_001271938.2(MEGF8):c.3498C>T (p.Ser1166=) rs1600051149
NM_001271938.2(MEGF8):c.351+18C>T
NM_001271938.2(MEGF8):c.351+20T>C
NM_001271938.2(MEGF8):c.352-16C>T
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
NM_001271938.2(MEGF8):c.3588C>T (p.Pro1196=)
NM_001271938.2(MEGF8):c.3599G>A (p.Gly1200Asp)
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met) rs770399527
NM_001271938.2(MEGF8):c.3842G>A (p.Arg1281Gln)
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)
NM_001271938.2(MEGF8):c.4012-4C>G rs1405166507
NM_001271938.2(MEGF8):c.4074G>A (p.Ser1358=)
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
NM_001271938.2(MEGF8):c.4144+4C>T
NM_001271938.2(MEGF8):c.4149G>A (p.Leu1383=)
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
NM_001271938.2(MEGF8):c.4200T>C (p.Ala1400=)
NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)
NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)
NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)
NM_001271938.2(MEGF8):c.4393-19G>C
NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
NM_001271938.2(MEGF8):c.4504-11C>T
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His) rs541874206
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
NM_001271938.2(MEGF8):c.4567T>C (p.Leu1523=) rs2039453501
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg) rs1285619780
NM_001271938.2(MEGF8):c.4623-5C>A
NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)
NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4831-11C>T
NM_001271938.2(MEGF8):c.4968C>T (p.Thr1656=)
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) rs770879154
NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) rs2039479348
NM_001271938.2(MEGF8):c.5025C>T (p.His1675=) rs2147488751
NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) rs1164577355
NM_001271938.2(MEGF8):c.5100C>A (p.Ala1700=)
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
NM_001271938.2(MEGF8):c.5170G>A (p.Ala1724Thr)
NM_001271938.2(MEGF8):c.5176-12C>G
NM_001271938.2(MEGF8):c.5176-18C>T
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) rs761809949
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe) rs1201933643
NM_001271938.2(MEGF8):c.5343+16G>A
NM_001271938.2(MEGF8):c.5343+17G>A rs2147490241
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5344-16C>A
NM_001271938.2(MEGF8):c.5344-17C>A rs780933404
NM_001271938.2(MEGF8):c.5376G>C (p.Leu1792=) rs2147490712
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)
NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)
NM_001271938.2(MEGF8):c.559-18_559-17del rs2147448565
NM_001271938.2(MEGF8):c.559-5C>T
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr) rs2147493826
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.5720+12G>A
NM_001271938.2(MEGF8):c.5720+19A>C rs2039524149
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
NM_001271938.2(MEGF8):c.5844+1G>A
NM_001271938.2(MEGF8):c.5847G>A (p.Ala1949=)
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr) rs1409781298
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg) rs2147448693
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His) rs201881006
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=) rs536661123
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
NM_001271938.2(MEGF8):c.6039G>A (p.Thr2013=)
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
NM_001271938.2(MEGF8):c.6058+5G>T
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr) rs2147497843
NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)
NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)
NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His) rs1399203080
NM_001271938.2(MEGF8):c.6267G>A (p.Leu2089=) rs934116600
NM_001271938.2(MEGF8):c.6274-18C>T
NM_001271938.2(MEGF8):c.6274-7C>G
NM_001271938.2(MEGF8):c.6274-7C>T rs772512683
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly) rs2147506322
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
NM_001271938.2(MEGF8):c.6312C>T (p.Ala2104=)
NM_001271938.2(MEGF8):c.6381C>T (p.Cys2127=) rs532126083
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.648C>T (p.His216=)
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys) rs760913754
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
NM_001271938.2(MEGF8):c.6641+14C>T
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu) rs142506261
NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)
NM_001271938.2(MEGF8):c.7136+12C>T rs375712517
NM_001271938.2(MEGF8):c.7248T>C (p.Arg2416=)
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
NM_001271938.2(MEGF8):c.7269+19G>A
NM_001271938.2(MEGF8):c.7269+5G>A
NM_001271938.2(MEGF8):c.7270-5C>T
NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001271938.2(MEGF8):c.7327C>T (p.Arg2443Cys)
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) rs2039754626
NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)
NM_001271938.2(MEGF8):c.739+11G>C
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) rs769273382
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) rs2039109372
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe) rs773064133
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
NM_001271938.2(MEGF8):c.7560C>T (p.Gly2520=)
NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu) rs2147519774
NM_001271938.2(MEGF8):c.7674G>C (p.Pro2558=) rs774279106
NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
NM_001271938.2(MEGF8):c.7770C>T (p.Arg2590=)
NM_001271938.2(MEGF8):c.7783C>T (p.Arg2595Trp)
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met) rs140517402
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu) rs377001753
NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.7948GTCTTCTTCTCC[1] (p.2650VFFS[1])
NM_001271938.2(MEGF8):c.7959C>T (p.Ser2653=)
NM_001271938.2(MEGF8):c.7961TCT[2] (p.Phe2656del)
NM_001271938.2(MEGF8):c.7968C>T (p.Phe2656=)
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) rs775004286
NM_001271938.2(MEGF8):c.7992_7995del (p.Leu2665fs)
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)
NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)
NM_001271938.2(MEGF8):c.8140G>A (p.Ala2714Thr)
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser) rs548176972
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg) rs2147521006
NM_001271938.2(MEGF8):c.828+11del rs2147449280
NM_001271938.2(MEGF8):c.828G>A (p.Pro276=)
NM_001271938.2(MEGF8):c.8338G>A (p.Val2780Met)
NM_001271938.2(MEGF8):c.8420G>A (p.Arg2807Gln)
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly) rs2039775950
NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)
NM_001271938.2(MEGF8):c.878T>C (p.Leu293Pro)
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)

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