ClinVar Miner

List of variants reported as uncertain significance for MEGF10-related myopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 373
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.259A>G (p.Met87Val) rs41298304 0.00052
NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu) rs142221815 0.00040
NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln) rs78069165 0.00039
NM_001256545.2(MEGF10):c.1622G>T (p.Arg541Leu) rs142664089 0.00035
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala) rs144187055 0.00022
NM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His) rs142969706 0.00016
NM_001256545.2(MEGF10):c.2848G>C (p.Val950Leu) rs148280932 0.00015
NM_001256545.2(MEGF10):c.3170G>A (p.Arg1057Lys) rs374156507 0.00015
NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser) rs116135607 0.00014
NM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr) rs761883697 0.00013
NM_001256545.2(MEGF10):c.1364G>A (p.Arg455His) rs144145310 0.00013
NM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser) rs574376262 0.00013
NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser) rs373163952 0.00012
NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=) rs199930517 0.00011
NM_001256545.2(MEGF10):c.656C>T (p.Ala219Val) rs945019709 0.00011
NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys) rs143087353 0.00009
NM_001256545.2(MEGF10):c.2050A>T (p.Ile684Phe) rs772306149 0.00009
NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln) rs755400237 0.00008
NM_001256545.2(MEGF10):c.1166C>T (p.Pro389Leu) rs141706024 0.00007
NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu) rs199699950 0.00007
NM_001256545.2(MEGF10):c.534C>T (p.Cys178=) rs577473643 0.00007
NM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn) rs142679354 0.00007
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys) rs200236385 0.00007
NM_001256545.2(MEGF10):c.1009G>A (p.Gly337Ser) rs779799530 0.00006
NM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr) rs568794084 0.00006
NM_001256545.2(MEGF10):c.1435G>A (p.Gly479Arg) rs372163689 0.00006
NM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg) rs779588329 0.00006
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser) rs200163743 0.00006
NM_001256545.2(MEGF10):c.350G>A (p.Arg117His) rs749238106 0.00006
NM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu) rs765580552 0.00006
NM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp) rs767672691 0.00006
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp) rs754251946 0.00005
NM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys) rs758348725 0.00005
NM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser) rs919641160 0.00005
NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp) rs371078929 0.00005
NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln) rs986353158 0.00005
NM_001256545.2(MEGF10):c.1044G>T (p.Glu348Asp) rs370219469 0.00004
NM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu) rs1408693633 0.00004
NM_001256545.2(MEGF10):c.1621C>T (p.Arg541Cys) rs866094740 0.00004
NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser) rs978960737 0.00004
NM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val) rs150095036 0.00004
NM_001256545.2(MEGF10):c.2590A>G (p.Ile864Val) rs780877446 0.00004
NM_001256545.2(MEGF10):c.2942C>T (p.Pro981Leu) rs1064793648 0.00004
NM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe) rs750829562 0.00004
NM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg) rs200703478 0.00004
NM_001256545.2(MEGF10):c.530G>A (p.Arg177His) rs373950666 0.00004
NM_001256545.2(MEGF10):c.632G>A (p.Arg211His) rs377520032 0.00004
NM_001256545.2(MEGF10):c.863C>T (p.Thr288Met) rs781179892 0.00004
NM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg) rs764333715 0.00004
NM_001256545.2(MEGF10):c.1100G>A (p.Arg367Gln) rs371522377 0.00003
NM_001256545.2(MEGF10):c.1868G>A (p.Arg623His) rs766501362 0.00003
NM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile) rs561610841 0.00003
NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg) rs201512679 0.00003
NM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys) rs896056668 0.00003
NM_001256545.2(MEGF10):c.2182G>A (p.Asp728Asn) rs781645558 0.00003
NM_001256545.2(MEGF10):c.2341A>G (p.Met781Val) rs1293120056 0.00003
NM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val) rs777294451 0.00003
NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile) rs138034219 0.00003
NM_001256545.2(MEGF10):c.2864A>C (p.Asn955Thr) rs1353393054 0.00003
NM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn) rs746195971 0.00003
NM_001256545.2(MEGF10):c.3196A>T (p.Asn1066Tyr) rs200848884 0.00003
NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val) rs201824269 0.00003
NM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn) rs764004112 0.00003
NM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg) rs559323248 0.00003
NM_001256545.2(MEGF10):c.1058G>A (p.Arg353His) rs146940427 0.00002
NM_001256545.2(MEGF10):c.1380T>G (p.Asn460Lys) rs748227745 0.00002
NM_001256545.2(MEGF10):c.1426+5G>T rs148197499 0.00002
NM_001256545.2(MEGF10):c.1544C>T (p.Thr515Met) rs777758032 0.00002
NM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala) rs954749214 0.00002
NM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met) rs553024715 0.00002
NM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile) rs778901566 0.00002
NM_001256545.2(MEGF10):c.218+5T>C rs373947797 0.00002
NM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe) rs772955622 0.00002
NM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe) rs1300616206 0.00002
NM_001256545.2(MEGF10):c.2587A>G (p.Ile863Val) rs148862988 0.00002
NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met) rs775983100 0.00002
NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu) rs747619139 0.00002
NM_001256545.2(MEGF10):c.413-7A>G rs367785030 0.00002
NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn) rs750650046 0.00002
NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp) rs764487174 0.00002
NM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg) rs755877624 0.00002
NM_001256545.2(MEGF10):c.745G>A (p.Val249Ile) rs370717384 0.00002
NM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser) rs748380473 0.00002
NM_001256545.2(MEGF10):c.917+6G>T rs746095070 0.00002
NM_001256545.2(MEGF10):c.952G>A (p.Val318Ile) rs959864264 0.00002
NM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu) rs772920449 0.00001
NM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys) rs770250098 0.00001
NM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys) rs761988715 0.00001
NM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys) rs750674329 0.00001
NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser) rs757939016 0.00001
NM_001256545.2(MEGF10):c.1108T>C (p.Cys370Arg) rs769248944 0.00001
NM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg) rs776828330 0.00001
NM_001256545.2(MEGF10):c.1322C>T (p.Thr441Ile) rs1160030961 0.00001
NM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr) rs745877628 0.00001
NM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser) rs1561635953 0.00001
NM_001256545.2(MEGF10):c.1523A>G (p.Asn508Ser) rs184606767 0.00001
NM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg) rs1196146646 0.00001
NM_001256545.2(MEGF10):c.1561C>T (p.Arg521Cys) rs1381176973 0.00001
NM_001256545.2(MEGF10):c.1562G>A (p.Arg521His) rs762636054 0.00001
NM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr) rs777005994 0.00001
NM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn) rs927000363 0.00001
NM_001256545.2(MEGF10):c.1672C>T (p.Arg558Cys) rs374111304 0.00001
NM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg) rs768600085 0.00001
NM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn) rs368340848 0.00001
NM_001256545.2(MEGF10):c.1711G>A (p.Val571Met) rs149021647 0.00001
NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr) rs148212621 0.00001
NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys) rs778255998 0.00001
NM_001256545.2(MEGF10):c.1814G>C (p.Gly605Ala) rs138022464 0.00001
NM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln) rs759730720 0.00001
NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg) rs1765456845 0.00001
NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp) rs1765456920 0.00001
NM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe) rs745565012 0.00001
NM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser) rs767856393 0.00001
NM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr) rs754091432 0.00001
NM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu) rs1765519745 0.00001
NM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile) rs139700339 0.00001
NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile) rs749879382 0.00001
NM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr) rs778154840 0.00001
NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met) rs766379097 0.00001
NM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser) rs1765635260 0.00001
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp) rs387907074 0.00001
NM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr) rs1192439798 0.00001
NM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn) rs1457173499 0.00001
NM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His) rs907242213 0.00001
NM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg) rs769798459 0.00001
NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp) rs752303954 0.00001
NM_001256545.2(MEGF10):c.2362+2dup rs762560221 0.00001
NM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile) rs1765908207 0.00001
NM_001256545.2(MEGF10):c.2558C>T (p.Ser853Phe) rs952649292 0.00001
NM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val) rs762333863 0.00001
NM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala) rs1318829482 0.00001
NM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr) rs756451956 0.00001
NM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys) rs1765997329 0.00001
NM_001256545.2(MEGF10):c.2822A>G (p.His941Arg) rs761698194 0.00001
NM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser) rs767447623 0.00001
NM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser) rs902313197 0.00001
NM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg) rs768701922 0.00001
NM_001256545.2(MEGF10):c.2930C>A (p.Thr977Asn) rs1209092369 0.00001
NM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser) rs756511139 0.00001
NM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg) rs1766283187 0.00001
NM_001256545.2(MEGF10):c.3007A>G (p.Met1003Val) rs746772649 0.00001
NM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu) rs139251235 0.00001
NM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys) rs1433266858 0.00001
NM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala) rs747789433 0.00001
NM_001256545.2(MEGF10):c.320C>A (p.Pro107His) rs745615372 0.00001
NM_001256545.2(MEGF10):c.3229G>A (p.Val1077Ile) rs376652467 0.00001
NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr) rs769476956 0.00001
NM_001256545.2(MEGF10):c.3278G>A (p.Arg1093His) rs187800437 0.00001
NM_001256545.2(MEGF10):c.3353A>G (p.Asp1118Gly) rs776755147 0.00001
NM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg) rs762840278 0.00001
NM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly) rs764044446 0.00001
NM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg) rs61738064 0.00001
NM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe) rs1476265236 0.00001
NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp) rs756329251 0.00001
NM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile) rs763157072 0.00001
NM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn) rs762474220 0.00001
NM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr) rs752601027 0.00001
NM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp) rs756799749 0.00001
NM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys) rs748641801 0.00001
NM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys) rs764996899 0.00001
NM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser) rs1479724522 0.00001
NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr) rs748919606 0.00001
NM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg) rs1005573486 0.00001
NM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys) rs752309579 0.00001
NM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys) rs201393832 0.00001
NM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe) rs1301558900 0.00001
NM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg) rs760972764 0.00001
NM_001256545.2(MEGF10):c.914A>T (p.Glu305Val) rs902150958 0.00001
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) rs199702225 0.00001
NM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg) rs148583278 0.00001
NC_000005.9:g.(?_126769035)_(126778838_?)dup
NC_000005.9:g.(?_126783229)_(126784934_?)del
NM_001256545.2(MEGF10):c.1007G>A (p.Ser336Asn) rs1554098971
NM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro) rs568794084
NM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys) rs1764513317
NM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr) rs1764515080
NM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly) rs1353722744
NM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile)
NM_001256545.2(MEGF10):c.1130+2dup
NM_001256545.2(MEGF10):c.1136A>T (p.His379Leu) rs1764826026
NM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser)
NM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys) rs1289662592
NM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala)
NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr) rs1561575721
NM_001256545.2(MEGF10):c.117-3C>T rs1166247376
NM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg)
NM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu)
NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)
NM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr) rs2126967674
NM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala) rs2126967681
NM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg) rs1431165906
NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)
NM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser)
NM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val) rs1764833861
NM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys) rs1438771856
NM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys)
NM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser)
NM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr) rs1174965174
NM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val) rs1580846493
NM_001256545.2(MEGF10):c.1426+3A>T rs191468697
NM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg)
NM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg) rs376778102
NM_001256545.2(MEGF10):c.149A>G (p.His50Arg)
NM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu)
NM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu) rs151266058
NM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg) rs758236594
NM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser) rs2126973506
NM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser)
NM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro) rs762636054
NM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys) rs752944860
NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)
NM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys) rs150043761
NM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met) rs150043761
NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys) rs1761581164
NM_001256545.2(MEGF10):c.1622G>A (p.Arg541His) rs142664089
NM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro)
NM_001256545.2(MEGF10):c.1673G>A (p.Arg558His) rs182243856
NM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu) rs2126979792
NM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg) rs1580851905
NM_001256545.2(MEGF10):c.1694-3C>G rs2126999832
NM_001256545.2(MEGF10):c.1722G>C (p.Glu574Asp)
NM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu) rs201832505
NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)
NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)
NM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr)
NM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr)
NM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg)
NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)
NM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr)
NM_001256545.2(MEGF10):c.1847C>T (p.Ser616Phe)
NM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser) rs752036559
NM_001256545.2(MEGF10):c.1856T>C (p.Phe619Ser)
NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)
NM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys) rs756234600
NM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu) rs1765500413
NM_001256545.2(MEGF10):c.1910C>A (p.Pro637His) rs1580866586
NM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu) rs1580866586
NM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp)
NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)
NM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys) rs1765502480
NM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu) rs1580866706
NM_001256545.2(MEGF10):c.1976-9T>G rs759695616
NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)
NM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu)
NM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg) rs2127003826
NM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala) rs1580867525
NM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp)
NM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys)
NM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr) rs1765522424
NM_001256545.2(MEGF10):c.2057G>T (p.Arg686Ile) rs1448285273
NM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys) rs1765523490
NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)
NM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His) rs1765638849
NM_001256545.2(MEGF10):c.2187G>A (p.Gly729=)
NM_001256545.2(MEGF10):c.219-3T>C rs1357482042
NM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys) rs1765640354
NM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala) rs1423139586
NM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg) rs1765727854
NM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn)
NM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala)
NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu) rs565304206
NM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser) rs1419621714
NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)
NM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu)
NM_001256545.2(MEGF10):c.2351A>G (p.His784Arg)
NM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser) rs2127019985
NM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn) rs1554102007
NM_001256545.2(MEGF10):c.2431G>C (p.Asp811His) rs1554102007
NM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg) rs1280125525
NM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg) rs1402417139
NM_001256545.2(MEGF10):c.2476G>A (p.Ala826Thr)
NM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser)
NM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala) rs1765907936
NM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro) rs138372925
NM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro) rs1765909921
NM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val) rs1765910939
NM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe) rs1765910939
NM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala) rs1580880208
NM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp)
NM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val)
NM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys) rs1765915785
NM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr)
NM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile)
NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser) rs368073107
NM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn)
NM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile) rs1218321550
NM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser)
NM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe) rs138034219
NM_001256545.2(MEGF10):c.2707A>C (p.Asn903His) rs1580880504
NM_001256545.2(MEGF10):c.2743A>C (p.Ser915Arg) rs1387603431
NM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser)
NM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly)
NM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala)
NM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr)
NM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu)
NM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser)
NM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu) rs1209069765
NM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg) rs755639288
NM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met) rs755639288
NM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg) rs1766057687
NM_001256545.2(MEGF10):c.2878G>A (p.Val960Met)
NM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu) rs1474577162
NM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile) rs1209092369
NM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys) rs753902803
NM_001256545.2(MEGF10):c.2979C>T (p.Leu993=)
NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)
NM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg) rs35159176
NM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys) rs566716623
NM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu)
NM_001256545.2(MEGF10):c.3122C>T (p.Pro1041Leu)
NM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val)
NM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu)
NM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn)
NM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys) rs2127046001
NM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser) rs770189857
NM_001256545.2(MEGF10):c.3228_3232+4del
NM_001256545.2(MEGF10):c.3232+1G>A
NM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg) rs1018024748
NM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg)
NM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr)
NM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn)
NM_001256545.2(MEGF10):c.3312C>A (p.Asn1104Lys)
NM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser)
NM_001256545.2(MEGF10):c.3331T>C (p.Tyr1111His) rs1064795277
NM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg)
NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser) rs1766400841
NM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr)
NM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg) rs1766402692
NM_001256545.2(MEGF10):c.344A>G (p.His115Arg)
NM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys)
NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)
NM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr) rs779874582
NM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe) rs1763921776
NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)
NM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr) rs1287636458
NM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro) rs2126921767
NM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg) rs2126921820
NM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg)
NM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg) rs765084824
NM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly) rs1223549168
NM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe) rs2126922023
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) rs377547826
NM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu)
NM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser)
NM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn) rs756704626
NM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr) rs1012722382
NM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg)
NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys) rs1023202749
NM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg)
NM_001256545.2(MEGF10):c.689A>G (p.His230Arg) rs776233986
NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)
NM_001256545.2(MEGF10):c.690T>A (p.His230Gln)
NM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser) rs1156618898
NM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys)
NM_001256545.2(MEGF10):c.733G>A (p.Val245Met) rs755790851
NM_001256545.2(MEGF10):c.740A>G (p.His247Arg) rs767932327
NM_001256545.2(MEGF10):c.743A>G (p.His248Arg) rs1286512106
NM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro) rs1482140533
NM_001256545.2(MEGF10):c.778A>C (p.Met260Leu) rs1764021167
NM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu) rs1427203192
NM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys) rs748380473
NM_001256545.2(MEGF10):c.815G>A (p.Arg272His)
NM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr) rs893376574
NM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile)
NM_001256545.2(MEGF10):c.88G>C (p.Asp30His) rs1761253902
NM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro)
NM_001256545.2(MEGF10):c.926A>T (p.Asp309Val) rs1764508104
NM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile) rs1727704535
NM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro) rs991317565
NM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp)
NM_001256545.2(MEGF10):c.980T>C (p.Val327Ala)

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