ClinVar Miner

List of variants studied for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 846
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15833
NM_016277.5(RAB23):c.*1312A>G rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.*3330A>G rs72868608 0.14761
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
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_016277.5(RAB23):c.*2425G>A rs62415930 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_016277.5(RAB23):c.*1251G>A rs182662 0.01805
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_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
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_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
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_016277.5(RAB23):c.-23C>T rs145059995 0.00424
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_016277.5(RAB23):c.481+5A>G rs150762175 0.00259
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204 0.00251
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
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_016277.5(RAB23):c.*2008G>A rs549684091 0.00093
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) rs367649187 0.00091
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_016277.5(RAB23):c.*2586G>A rs547766165 0.00079
NM_016277.5(RAB23):c.*722T>C rs143345846 0.00076
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_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
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.6222G>A (p.Lys2074=) rs150834651 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_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_016277.5(RAB23):c.482-13C>G rs372666007 0.00037
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238 0.00034
NM_016277.5(RAB23):c.*984G>A rs148372304 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_016277.5(RAB23):c.*3033C>T rs749068215 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_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 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_016277.5(RAB23):c.*1131C>G rs541307925 0.00016
NM_016277.5(RAB23):c.*1534T>G rs778774458 0.00016
NM_016277.5(RAB23):c.*2681G>A rs773395495 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 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_016277.5(RAB23):c.*2753G>A rs896219710 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.7875C>T (p.Pro2625=) rs572813671 0.00013
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 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_016277.5(RAB23):c.*2769C>A rs550035886 0.00011
NM_016277.5(RAB23):c.*2876T>C rs561133735 0.00011
NM_016277.5(RAB23):c.*3129G>C rs562371430 0.00011
NM_016277.5(RAB23):c.*920C>G rs530900959 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_016277.5(RAB23):c.675G>A (p.Lys225=) rs781622209 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.6570C>T (p.Asn2190=) rs767893103 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_016277.5(RAB23):c.594T>G (p.Gly198=) rs151203723 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_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 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_016277.5(RAB23):c.*1665_*1667dup rs886061651 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 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.3392C>T (p.Pro1131Leu) rs748525586 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.485C>T (p.Pro162Leu) rs770734416 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_016277.5(RAB23):c.*2067A>G rs191147024 0.00004
NM_016277.5(RAB23):c.*2341C>A rs571856902 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 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.1992G>A (p.Ala664=) rs753660883 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_016277.5(RAB23):c.-49C>T rs45474592 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.1626G>A (p.Ala542=) rs1053183256 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_016277.5(RAB23):c.57A>G (p.Ala19=) rs750598308 0.00002
NM_016277.5(RAB23):c.606C>T (p.Ser202=) rs771204930 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.27G>C (p.Met9Ile) rs1029623509 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.8223T>G (p.Gly2741=) rs750507989 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.901G>A (p.Gly301Ser) rs369528104 0.00001
NM_001271938.2(MEGF8):c.948C>A (p.Gly316=) rs971549656 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.*2245T>C rs908169983 0.00001
NM_016277.5(RAB23):c.*2319T>C rs1159890588 0.00001
NM_016277.5(RAB23):c.*795G>A rs1387081917 0.00001
NM_016277.5(RAB23):c.117G>A (p.Lys39=) rs771469793 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.155+6dup rs761067059 0.00001
NM_016277.5(RAB23):c.184T>C (p.Leu62=) rs779101760 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) rs766250966 0.00001
NM_016277.5(RAB23):c.24C>T (p.Val8=) rs752991124 0.00001
NM_016277.5(RAB23):c.327C>T (p.Ala109=) rs370959474 0.00001
NM_016277.5(RAB23):c.333G>A (p.Val111=) rs749833240 0.00001
NM_016277.5(RAB23):c.351A>G (p.Val117=) rs751291871 0.00001
NM_016277.5(RAB23):c.398+10C>T rs897972213 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.399-6G>A rs778655052 0.00001
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090 0.00001
NM_016277.5(RAB23):c.426G>A (p.Arg142=) rs763680429 0.00001
NM_016277.5(RAB23):c.482-9T>G rs777259479 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.547C>T (p.Leu183=) rs1473586028 0.00001
NM_016277.5(RAB23):c.555T>C (p.His185=) rs765954442 0.00001
NM_016277.5(RAB23):c.574+10T>C rs754164616 0.00001
NM_016277.5(RAB23):c.574+8C>T rs779119268 0.00001
NM_016277.5(RAB23):c.582T>C (p.Phe194=) rs1332930442 0.00001
NM_016277.5(RAB23):c.603C>T (p.His201=) rs372315508 0.00001
NM_016277.5(RAB23):c.627C>T (p.Leu209=) rs1318546806 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.693T>C (p.Phe231=) rs1764796444 0.00001
NM_016277.5(RAB23):c.699C>T (p.Ser233=) rs755447089 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NC_000006.11:g.(?_57061071)_(57061424_?)del
NC_000006.11:g.(?_57075004)_(57075178_?)del
NC_000006.12:g.(?_57186982)_(57222324_?)del
NC_000019.10:g.(?_42370701)_(42370831_?)del
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NC_000019.9:g.(?_39904727)_(42931301_?)dup
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.1158C>G (p.Pro386=)
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.1244+19A>T
NM_001271938.2(MEGF8):c.1245-11T>G
NM_001271938.2(MEGF8):c.1245-9_1245-8del
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.1613G>A (p.Gly538Glu)
NM_001271938.2(MEGF8):c.1638C>T (p.Pro546=)
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.1914G>A (p.Glu638=)
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.1934-6T>G
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.2097+14G>A
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.2355C>T (p.Arg785=)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.2427C>G (p.Leu809=)
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.2631C>A (p.Gly877=)
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.2737-20T>A
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
NM_001271938.2(MEGF8):c.2802C>T (p.Gly934=)
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.2856-20C>T
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.2988-15C>A
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.3210C>T (p.Ala1070=)
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.333C>T (p.Ile111=)
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.3412G>A (p.Asp1138Asn)
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.352-13C>T
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+1G>C
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.3861T>C (p.Pro1287=)
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.3975C>T (p.Thr1325=)
NM_001271938.2(MEGF8):c.4012-4C>G rs1405166507
NM_001271938.2(MEGF8):c.4012-6C>G
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.4145-10C>G
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.4227del (p.Gly1411fs)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.4236C>T (p.Pro1412=)
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.4488C>T (p.Asp1496=)
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.47C>G (p.Ala16Gly) rs1050352479
NM_001271938.2(MEGF8):c.480C>T (p.Cys160=)
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4830+19C>T
NM_001271938.2(MEGF8):c.4830+1G>A
NM_001271938.2(MEGF8):c.4831-11C>T
NM_001271938.2(MEGF8):c.4857C>T (p.Ala1619=)
NM_001271938.2(MEGF8):c.486G>A (p.Pro162=)
NM_001271938.2(MEGF8):c.4929T>C (p.Asn1643=)
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.5011+20G>T
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.5136C>T (p.Asp1712=)
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.5346C>A (p.Pro1782=)
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.5488C>T (p.Arg1830Cys)
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5547C>T (p.Val1849=)
NM_001271938.2(MEGF8):c.5554C>T (p.Arg1852Cys)
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.5730C>T (p.Cys1910=)
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
NM_001271938.2(MEGF8):c.5766G>A (p.Pro1922=)
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.592T>C (p.Leu198=)
NM_001271938.2(MEGF8):c.5934T>C (p.Cys1978=)
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.6624C>T (p.Thr2208=)
NM_001271938.2(MEGF8):c.6641+14C>T
NM_001271938.2(MEGF8):c.6641+17C>T
NM_001271938.2(MEGF8):c.6682G>A (p.Val2228Met)
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.6798G>A (p.Ala2266=)
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
NM_001271938.2(MEGF8):c.6834+8G>A
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
NM_001271938.2(MEGF8):c.6882C>T (p.Val2294=)
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>A (p.Arg2307His)
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu) rs142506261
NM_001271938.2(MEGF8):c.6960A>G (p.Gln2320=)
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.7215G>A (p.Thr2405=)
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.7270-20G>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.7416C>T (p.Pro2472=)
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
NM_001271938.2(MEGF8):c.7473G>A (p.Leu2491=)
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>A (p.Pro2558=)
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.7786C>T (p.Leu2596=)
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu) rs377001753
NM_001271938.2(MEGF8):c.7843C>T (p.Leu2615=)
NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)
NM_001271938.2(MEGF8):c.7878C>T (p.Gly2626=)
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.7941C>T (p.Asp2647=)
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.7C>T (p.Leu3=)
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.8198C>A (p.Ala2733Glu)
NM_001271938.2(MEGF8):c.8220C>T (p.Ala2740=)
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+11C>T
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.864C>T (p.Ala288=)
NM_001271938.2(MEGF8):c.878T>C (p.Leu293Pro)
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)
NM_016277.5(RAB23):c.*1052T>C rs1764744688
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*1180ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1494A>G rs1764724130
NM_016277.5(RAB23):c.*1536T>G rs931746824
NM_016277.5(RAB23):c.*1817A>G rs368441472
NM_016277.5(RAB23):c.*3298A>G rs1170431413
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*850A>G rs1764753710
NM_016277.5(RAB23):c.-66+5021dup
NM_016277.5(RAB23):c.105A>G (p.Thr35=) rs576194133
NM_016277.5(RAB23):c.108A>G (p.Lys36=)
NM_016277.5(RAB23):c.114C>T (p.Tyr38=) rs888229513
NM_016277.5(RAB23):c.126T>C (p.Ile42=)
NM_016277.5(RAB23):c.12A>G (p.Glu4=)
NM_016277.5(RAB23):c.132T>G (p.Val44=) rs2128004147
NM_016277.5(RAB23):c.135T>C (p.Asp45=)
NM_016277.5(RAB23):c.139T>C (p.Leu47=)
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) rs1765602287
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
NM_016277.5(RAB23):c.155+11G>A
NM_016277.5(RAB23):c.155+11G>C
NM_016277.5(RAB23):c.155+17T>C
NM_016277.5(RAB23):c.155+8C>T rs2128004127
NM_016277.5(RAB23):c.156-14A>G
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.156-20_156-17del
NM_016277.5(RAB23):c.156-8T>C rs1593221684
NM_016277.5(RAB23):c.156-8T>G
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.156-9_156-8del
NM_016277.5(RAB23):c.165T>C (p.Asp55=)
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.177A>G (p.Arg59=)
NM_016277.5(RAB23):c.17del (p.Met6fs) rs1765608519
NM_016277.5(RAB23):c.186A>G (p.Leu62=) rs2128002898
NM_016277.5(RAB23):c.207G>A (p.Glu69=)
NM_016277.5(RAB23):c.208del (p.Glu70fs)
NM_016277.5(RAB23):c.21A>G (p.Glu7=)
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.234C>T (p.Tyr78=) rs2128002860
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
NM_016277.5(RAB23):c.241+10A>G rs2128002855
NM_016277.5(RAB23):c.241+16T>G
NM_016277.5(RAB23):c.242-17_242-16insATTC
NM_016277.5(RAB23):c.242-20G>C
NM_016277.5(RAB23):c.242-31ATTG[3]
NM_016277.5(RAB23):c.242-31ATTG[4] rs45542438
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.242-6T>C rs2127998723
NM_016277.5(RAB23):c.242-7C>T
NM_016277.5(RAB23):c.261C>G (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.261C>T (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.273C>G (p.Thr91=)
NM_016277.5(RAB23):c.273C>T (p.Thr91=)
NM_016277.5(RAB23):c.279T>C (p.Asp93=)
NM_016277.5(RAB23):c.27C>T (p.Ala9=)
NM_016277.5(RAB23):c.285A>G (p.Glu95=) rs2127998702
NM_016277.5(RAB23):c.312A>G (p.Arg104=)
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
NM_016277.5(RAB23):c.315_316del (p.Lys106fs)
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
NM_016277.5(RAB23):c.321A>C (p.Val107=)
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.33G>A (p.Lys11=)
NM_016277.5(RAB23):c.357G>A (p.Val119=)
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.376C>T (p.Leu126=)
NM_016277.5(RAB23):c.387T>C (p.Ser129=) rs1593210265
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.390T>C (p.Cys130=) rs2127998627
NM_016277.5(RAB23):c.394A>T (p.Lys132Ter)
NM_016277.5(RAB23):c.398+18G>A
NM_016277.5(RAB23):c.398+1G>A rs2127998616
NM_016277.5(RAB23):c.398+9G>T rs376839366
NM_016277.5(RAB23):c.399-14A>T rs974936952
NM_016277.5(RAB23):c.399-15T>A
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.399-2A>G
NM_016277.5(RAB23):c.399-7T>C
NM_016277.5(RAB23):c.399-9G>T rs1764963102
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) rs2127998022
NM_016277.5(RAB23):c.426del (p.Arg142fs)
NM_016277.5(RAB23):c.429A>G (p.Leu143=) rs1186623990
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
NM_016277.5(RAB23):c.435A>G (p.Leu145=) rs2127998004
NM_016277.5(RAB23):c.450A>G (p.Thr150=)
NM_016277.5(RAB23):c.453A>C (p.Ser151=)
NM_016277.5(RAB23):c.467del (p.Leu156fs)
NM_016277.5(RAB23):c.474G>A (p.Val158=)
NM_016277.5(RAB23):c.481+16del
NM_016277.5(RAB23):c.481+17G>A
NM_016277.5(RAB23):c.481+18del
NM_016277.5(RAB23):c.481+19A>G
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.481+4A>C
NM_016277.5(RAB23):c.481+7T>A rs2127997989
NM_016277.5(RAB23):c.481+8A>C rs2127997988
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.482-10T>C
NM_016277.5(RAB23):c.482-12T>G
NM_016277.5(RAB23):c.482-14T>G
NM_016277.5(RAB23):c.482-1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.482-20G>A
NM_016277.5(RAB23):c.482-20del
NM_016277.5(RAB23):c.482-7A>G rs1221714796
NM_016277.5(RAB23):c.482-8T>G rs1303194537
NM_016277.5(RAB23):c.48G>A (p.Gly16=)
NM_016277.5(RAB23):c.48G>T (p.Gly16=)
NM_016277.5(RAB23):c.495G>A (p.Leu165=)
NM_016277.5(RAB23):c.4T>C (p.Leu2=) rs1593223928
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.510T>C (p.Leu170=) rs1764929463
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
NM_016277.5(RAB23):c.525A>G (p.Gln175=)
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) rs2127997677
NM_016277.5(RAB23):c.528A>G (p.Gln176=)
NM_016277.5(RAB23):c.549A>G (p.Leu183=) rs2127997659
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.552G>C (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.552G>T (p.Thr184=)
NM_016277.5(RAB23):c.559del (p.Ser187fs) rs2127997645
NM_016277.5(RAB23):c.574+20T>G
NM_016277.5(RAB23):c.574+7A>G
NM_016277.5(RAB23):c.575-12C>A
NM_016277.5(RAB23):c.575-15C>T
NM_016277.5(RAB23):c.575-5T>A
NM_016277.5(RAB23):c.575-7T>A rs2127996399
NM_016277.5(RAB23):c.575-8_575-5dup rs1429640163
NM_016277.5(RAB23):c.576T>G (p.Gly192=) rs2127996390
NM_016277.5(RAB23):c.57A>C (p.Ala19=)
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) rs2127996379
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
NM_016277.5(RAB23):c.60T>G (p.Val20=) rs2128004188
NM_016277.5(RAB23):c.642C>T (p.Val214=) rs1593204004
NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_016277.5(RAB23):c.82del (p.Arg28fs) rs2128004184
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800
NM_016277.5(RAB23):c.90C>T (p.Cys30=)

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