ClinVar Miner

List of variants reported as uncertain significance for acrocephalopolysyndactyly

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 515
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*5020C>T rs182662 0.01805
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083 0.00063
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
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_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met) rs141221243 0.00031
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477 0.00029
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) rs143215498 0.00029
NM_004282.4(BAG2):c.*3238G>A rs749068215 0.00029
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) rs368693886 0.00025
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met) rs372955721 0.00024
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=) rs149716961 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
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.6934A>G (p.Ile2312Val) rs142042363 0.00016
NM_004282.4(BAG2):c.*3590C>T rs773395495 0.00016
NM_004282.4(BAG2):c.*4737A>C rs778774458 0.00016
NM_004282.4(BAG2):c.*5140G>C rs541307925 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_001271938.2(MEGF8):c.351+4A>G rs753271808 0.00015
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) rs373631162 0.00014
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) rs139601509 0.00014
NM_004282.4(BAG2):c.*3518C>T rs896219710 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) rs200910137 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_004282.4(BAG2):c.*3142C>G rs562371430 0.00011
NM_004282.4(BAG2):c.*3395A>G rs561133735 0.00011
NM_004282.4(BAG2):c.*3502G>T rs550035886 0.00011
NM_004282.4(BAG2):c.*5351G>C rs530900959 0.00011
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=) rs764014679 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp) rs200195292 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser) rs370106282 0.00007
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys) rs143643113 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547 0.00006
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln) rs146355445 0.00006
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys) rs762398666 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.8122C>A (p.Pro2708Thr) rs373293709 0.00006
NM_004282.4(BAG2):c.*4604_*4606dup rs886061651 0.00006
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 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.7589C>T (p.Pro2530Leu) rs769598183 0.00005
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) rs766621187 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) rs746602135 0.00005
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234 0.00004
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His) rs370984978 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.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_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 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.481+10C>T rs546078370 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_023110.3(FGFR1):c.1477G>A (p.Val493Met) rs752601407 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg) rs754432292 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.5411C>T (p.Ser1804Leu) rs757227265 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.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_023110.3(FGFR1):c.1319G>A (p.Gly440Glu) rs372654433 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.181G>A (p.Val61Met) rs762089291 0.00003
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
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.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.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.7033A>G (p.Ser2345Gly) rs1016429941 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_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.193A>C (p.Asn65His) rs768919123 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser) rs1419947824 0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile) rs762665767 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 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.3472C>A (p.Arg1158Ser) rs977777127 0.00001
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp) rs892173452 0.00001
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys) rs377750684 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.4517G>A (p.Arg1506His) rs749669318 0.00001
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln) rs372798483 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.5765C>T (p.Pro1922Leu) rs766493787 0.00001
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780 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.6739C>T (p.Arg2247Cys) rs1438199181 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_004282.4(BAG2):c.*3952A>G rs1159890588 0.00001
NM_004282.4(BAG2):c.*4026A>G rs908169983 0.00001
NM_004282.4(BAG2):c.*5476C>T rs1387081917 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 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.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 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
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val) rs1324436328 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=) rs199499923 0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr) rs749758370 0.00001
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys) rs778531708 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg) rs903239767 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2292+6G>T rs905873179 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser) rs1815142188 0.00001
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg) rs17182456 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro) rs764533580 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser) rs746094709 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.621+4C>T rs750639887 0.00001
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val) rs763771933 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe) rs1230569367 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
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.1225C>T (p.His409Tyr)
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
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.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.1850C>T (p.Ala617Val)
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) rs2039264644
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser) rs2147472784
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.2843C>G (p.Pro948Arg) rs771693018
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) rs2039399285
NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
NM_001271938.2(MEGF8):c.3599G>A (p.Gly1200Asp)
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.3964C>T (p.Pro1322Ser)
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
NM_001271938.2(MEGF8):c.4144+4C>T
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His) rs541874206
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg) rs1285619780
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly) rs1050352479
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) rs770879154
NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) rs2039479348
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
NM_001271938.2(MEGF8):c.5170G>A (p.Ala1724Thr)
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) rs761809949
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe) rs1201933643
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr) rs2147493826
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr) rs1409781298
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
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.6057A>G (p.Thr2019=)
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr) rs2147497843
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.6301C>G (p.Arg2101Gly) rs2147506322
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
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.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.700G>A (p.Ala234Thr)
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
NM_001271938.2(MEGF8):c.7269+19G>A
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) rs2039754626
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) rs769273382
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.7598C>T (p.Pro2533Leu) rs2147519774
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
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.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
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.8446G>T (p.Gly2816Cys)
NM_004282.4(BAG2):c.*2973T>C rs1170431413
NM_004282.4(BAG2):c.*4454T>C rs368441472
NM_004282.4(BAG2):c.*4735A>C rs931746824
NM_004282.4(BAG2):c.*4777T>C rs1764724130
NM_004282.4(BAG2):c.*5084TGAT[3] rs139778770
NM_004282.4(BAG2):c.*5219A>G rs1764744688
NM_004282.4(BAG2):c.*5421T>C rs1764753710
NM_004282.4(BAG2):c.*5536A>C rs886061652
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.-66+5021dup
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_016277.5(RAB23):c.481+4A>C
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) rs2127996379
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) rs1064793123
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr) rs2150966948
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) rs376921992
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys) rs1817962450
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg) rs2150706408
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg) rs1232639613
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu) rs758138124
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe) rs2150675272
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr) rs2150964150
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg) rs760702592
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val) rs2150591908
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg) rs531903077
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp) rs1162148796
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr) rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del) rs1387712427
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu) rs2150563316
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) rs1815800575
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe) rs2150549553
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2193G>A (p.Met731Ile)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro) rs755160898
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn) rs759376422
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His) rs1822219907
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser) rs2150955298
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del) rs1328266877
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val) rs1161536828
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro) rs1033377277
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn) rs1833133571
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.92-19G>A rs753723806
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)

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