ClinVar Miner

List of variants in gene EIF2B5 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 637
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.1745+134A>G rs843359 0.46326
NM_003907.3(EIF2B5):c.1870-137A>C rs843357 0.44900
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003907.3(EIF2B5):c.1746-143C>T rs73045908 0.03685
NM_003907.3(EIF2B5):c.1156+197T>C rs111763942 0.03543
NM_003907.3(EIF2B5):c.*128T>C rs14955 0.03042
NM_003907.3(EIF2B5):c.843+86A>G rs28584345 0.02384
NM_003907.3(EIF2B5):c.766-235A>G rs150844648 0.02063
NM_003907.3(EIF2B5):c.1341G>A (p.Ser447=) rs138857267 0.00583
NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=) rs114216498 0.00220
NM_003907.3(EIF2B5):c.1614G>A (p.Pro538=) rs142361539 0.00168
NM_003907.3(EIF2B5):c.2106+31T>C rs200231215 0.00148
NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val) rs150130018 0.00133
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_003907.3(EIF2B5):c.320+9C>T rs116835002 0.00076
NM_003907.3(EIF2B5):c.1167G>A (p.Val389=) rs112278360 0.00064
NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp) rs111933069 0.00062
NM_003907.3(EIF2B5):c.362G>A (p.Arg121Gln) rs144443995 0.00059
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val) rs150531914 0.00048
NM_003907.3(EIF2B5):c.1613C>T (p.Pro538Leu) rs148734067 0.00040
NM_003907.3(EIF2B5):c.966C>G (p.Thr322=) rs145535476 0.00035
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_003907.3(EIF2B5):c.1913G>A (p.Arg638His) rs138772928 0.00014
NM_003907.3(EIF2B5):c.2107-15T>C rs747475323 0.00014
NM_003907.3(EIF2B5):c.1920C>T (p.Ala640=) rs149329097 0.00013
NM_003907.3(EIF2B5):c.1265G>A (p.Arg422Gln) rs372497906 0.00011
NM_003907.3(EIF2B5):c.196-9A>C rs374801184 0.00011
NM_003907.3(EIF2B5):c.840G>A (p.Glu280=) rs138820746 0.00010
NM_003907.3(EIF2B5):c.1215A>G (p.Gly405=) rs764519749 0.00006
NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile) rs577738220 0.00006
NM_003907.3(EIF2B5):c.822A>C (p.Arg274=) rs374269803 0.00006
NM_003907.3(EIF2B5):c.858G>C (p.Gln286His) rs374608159 0.00006
NM_003907.3(EIF2B5):c.924T>C (p.Ala308=) rs769004874 0.00006
NM_003907.3(EIF2B5):c.936C>T (p.Asp312=) rs371452981 0.00006
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_003907.3(EIF2B5):c.1396A>C (p.Ser466Arg) rs571718105 0.00005
NM_003907.3(EIF2B5):c.1915G>A (p.Ala639Thr) rs140884581 0.00005
NM_003907.3(EIF2B5):c.381C>G (p.Leu127=) rs1237483191 0.00005
NM_003907.3(EIF2B5):c.57C>T (p.Arg19=) rs374671573 0.00005
NM_003907.3(EIF2B5):c.65C>T (p.Ala22Val) rs369218379 0.00005
NM_003907.3(EIF2B5):c.1044C>T (p.Val348=) rs149507492 0.00004
NM_003907.3(EIF2B5):c.1048C>T (p.Leu350=) rs369558619 0.00004
NM_003907.3(EIF2B5):c.1303-8C>T rs780857091 0.00004
NM_003907.3(EIF2B5):c.1325C>T (p.Thr442Met) rs777685963 0.00004
NM_003907.3(EIF2B5):c.1714G>A (p.Asp572Asn) rs771735548 0.00004
NM_003907.3(EIF2B5):c.1863G>A (p.Leu621=) rs548184353 0.00004
NM_003907.3(EIF2B5):c.1935G>A (p.Ala645=) rs772251891 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln) rs113994069 0.00003
NM_003907.3(EIF2B5):c.1144G>A (p.Gly382Ser) rs372909017 0.00003
NM_003907.3(EIF2B5):c.1326G>A (p.Thr442=) rs374000708 0.00003
NM_003907.3(EIF2B5):c.1572G>A (p.Glu524=) rs780324607 0.00003
NM_003907.3(EIF2B5):c.1621C>T (p.Arg541Trp) rs753878206 0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_003907.3(EIF2B5):c.353A>G (p.Asn118Ser) rs774068091 0.00003
NM_003907.3(EIF2B5):c.369T>A (p.Ile123=) rs752385178 0.00003
NM_003907.3(EIF2B5):c.700A>G (p.Ser234Gly) rs760749378 0.00003
NM_003907.3(EIF2B5):c.766-9C>G rs780171047 0.00003
NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) rs113994063 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00002
NM_003907.3(EIF2B5):c.1209G>A (p.Ala403=) rs143448763 0.00002
NM_003907.3(EIF2B5):c.1445-6T>C rs1468037617 0.00002
NM_003907.3(EIF2B5):c.1449C>T (p.Tyr483=) rs1345197891 0.00002
NM_003907.3(EIF2B5):c.1623G>A (p.Arg541=) rs757352773 0.00002
NM_003907.3(EIF2B5):c.1655-18T>C rs758588459 0.00002
NM_003907.3(EIF2B5):c.1869+9A>G rs1333959036 0.00002
NM_003907.3(EIF2B5):c.2107-14C>T rs1687210 0.00002
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 0.00002
NM_003907.3(EIF2B5):c.486C>T (p.Thr162=) rs1199234160 0.00002
NM_003907.3(EIF2B5):c.581C>T (p.Thr194Ile) rs536707551 0.00002
NM_003907.3(EIF2B5):c.591C>T (p.His197=) rs749171051 0.00002
NM_003907.3(EIF2B5):c.664C>T (p.Arg222Trp) rs151061485 0.00002
NM_003907.3(EIF2B5):c.762T>C (p.Pro254=) rs1192507994 0.00002
NM_003907.3(EIF2B5):c.766-15A>G rs370859267 0.00002
NM_003907.3(EIF2B5):c.895C>T (p.Arg299Cys) rs749256406 0.00002
NM_003907.3(EIF2B5):c.900C>T (p.Val300=) rs778914998 0.00002
NM_003907.3(EIF2B5):c.905A>G (p.Asn302Ser) rs746083041 0.00002
NM_003907.3(EIF2B5):c.975G>A (p.Ala325=) rs778932439 0.00002
NM_003907.3(EIF2B5):c.1041G>T (p.Glu347Asp) rs180945242 0.00001
NM_003907.3(EIF2B5):c.1056T>C (p.His352=) rs143156459 0.00001
NM_003907.3(EIF2B5):c.1063A>G (p.Ile355Val) rs760637605 0.00001
NM_003907.3(EIF2B5):c.1107C>T (p.Gly369=) rs1218307883 0.00001
NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=) rs748745866 0.00001
NM_003907.3(EIF2B5):c.1156+8C>T rs202060468 0.00001
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val) rs545593935 0.00001
NM_003907.3(EIF2B5):c.1215A>C (p.Gly405=) rs764519749 0.00001
NM_003907.3(EIF2B5):c.1221G>A (p.Gln407=) rs754300172 0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu) rs113994078 0.00001
NM_003907.3(EIF2B5):c.1289T>C (p.Val430Ala) rs113994079 0.00001
NM_003907.3(EIF2B5):c.1302+11A>T rs780945042 0.00001
NM_003907.3(EIF2B5):c.1302+8C>T rs370965660 0.00001
NM_003907.3(EIF2B5):c.1303-9T>C rs549670235 0.00001
NM_003907.3(EIF2B5):c.1308C>T (p.Val436=) rs191351706 0.00001
NM_003907.3(EIF2B5):c.1327C>T (p.Leu443=) rs770947243 0.00001
NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=) rs531966163 0.00001
NM_003907.3(EIF2B5):c.1358C>T (p.Pro453Leu) rs1375131270 0.00001
NM_003907.3(EIF2B5):c.1445-4C>G rs1396305701 0.00001
NM_003907.3(EIF2B5):c.1530G>A (p.Leu510=) rs749491700 0.00001
NM_003907.3(EIF2B5):c.1590G>A (p.Glu530=) rs769530660 0.00001
NM_003907.3(EIF2B5):c.1620C>T (p.Ser540=) rs1478117377 0.00001
NM_003907.3(EIF2B5):c.1680A>T (p.Thr560=) rs748631463 0.00001
NM_003907.3(EIF2B5):c.1722C>T (p.Leu574=) rs775332719 0.00001
NM_003907.3(EIF2B5):c.1726C>T (p.Leu576=) rs768595235 0.00001
NM_003907.3(EIF2B5):c.1795G>A (p.Val599Met) rs1248680116 0.00001
NM_003907.3(EIF2B5):c.1812C>G (p.Pro604=) rs1250824492 0.00001
NM_003907.3(EIF2B5):c.1830C>T (p.Ser610=) rs1455535271 0.00001
NM_003907.3(EIF2B5):c.1833G>A (p.Pro611=) rs369036657 0.00001
NM_003907.3(EIF2B5):c.1854T>C (p.Cys618=) rs530087312 0.00001
NM_003907.3(EIF2B5):c.1870-13C>G rs1387562601 0.00001
NM_003907.3(EIF2B5):c.1912C>T (p.Arg638Cys) rs541227484 0.00001
NM_003907.3(EIF2B5):c.1923C>T (p.Asp641=) rs200282586 0.00001
NM_003907.3(EIF2B5):c.2002A>G (p.Met668Val) rs201280946 0.00001
NM_003907.3(EIF2B5):c.2015A>G (p.Gln672Arg) rs180808873 0.00001
NM_003907.3(EIF2B5):c.2030C>G (p.Ala677Gly) rs768722786 0.00001
NM_003907.3(EIF2B5):c.2079G>A (p.Lys693=) rs773779771 0.00001
NM_003907.3(EIF2B5):c.2097G>A (p.Lys699=) rs757194352 0.00001
NM_003907.3(EIF2B5):c.2103A>G (p.Gln701=) rs1457809370 0.00001
NM_003907.3(EIF2B5):c.2106+4C>T rs772606942 0.00001
NM_003907.3(EIF2B5):c.2107-12G>A rs1368238343 0.00001
NM_003907.3(EIF2B5):c.2107-9T>G rs752732564 0.00001
NM_003907.3(EIF2B5):c.216T>C (p.Asn72=) rs886058214 0.00001
NM_003907.3(EIF2B5):c.24G>T (p.Pro8=) rs901815559 0.00001
NM_003907.3(EIF2B5):c.261T>G (p.Gly87=) rs1000636351 0.00001
NM_003907.3(EIF2B5):c.303A>G (p.Gln101=) rs1219013245 0.00001
NM_003907.3(EIF2B5):c.313C>T (p.His105Tyr) rs747305325 0.00001
NM_003907.3(EIF2B5):c.320+7C>A rs1262621822 0.00001
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys) rs113994050 0.00001
NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val) rs1365253275 0.00001
NM_003907.3(EIF2B5):c.383A>G (p.Tyr128Cys) rs865774540 0.00001
NM_003907.3(EIF2B5):c.445C>A (p.Leu149Ile) rs565968028 0.00001
NM_003907.3(EIF2B5):c.465C>T (p.Val155=) rs771810132 0.00001
NM_003907.3(EIF2B5):c.507-6T>A rs771512063 0.00001
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) rs113994053 0.00001
NM_003907.3(EIF2B5):c.546G>A (p.Thr182=) rs1330413908 0.00001
NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys) rs113994055 0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) rs113994054 0.00001
NM_003907.3(EIF2B5):c.597C>T (p.Asp199=) rs142942382 0.00001
NM_003907.3(EIF2B5):c.600T>C (p.Asn200=) rs757699338 0.00001
NM_003907.3(EIF2B5):c.609G>T (p.Val203=) rs1713441656 0.00001
NM_003907.3(EIF2B5):c.66G>A (p.Ala22=) rs768780694 0.00001
NM_003907.3(EIF2B5):c.714G>A (p.Val238=) rs762094442 0.00001
NM_003907.3(EIF2B5):c.714G>C (p.Val238=) rs762094442 0.00001
NM_003907.3(EIF2B5):c.766-6C>T rs1159871774 0.00001
NM_003907.3(EIF2B5):c.807A>G (p.Arg269=) rs1328795076 0.00001
NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter) rs1334515681 0.00001
NM_003907.3(EIF2B5):c.843+9A>G rs763588832 0.00001
NM_003907.3(EIF2B5):c.844-5T>C rs766276567 0.00001
NM_003907.3(EIF2B5):c.844-6A>G rs775028510 0.00001
NM_003907.3(EIF2B5):c.844-7C>T rs750115488 0.00001
NM_003907.3(EIF2B5):c.870C>T (p.His290=) rs747788088 0.00001
NM_003907.3(EIF2B5):c.939C>T (p.Val313=) rs772927346 0.00001
NM_003907.3(EIF2B5):c.946C>T (p.Arg316Ter) rs776227815 0.00001
NM_003907.3(EIF2B5):c.965C>T (p.Thr322Ile) rs1191243277 0.00001
NC_000003.11:g.(?_183853164)_(183862741_?)del
NC_000003.11:g.(?_183853174)_(183856054_?)del
NC_000003.11:g.(?_183857858)_(183862741_?)del
NM_003907.3(EIF2B5):c.1000del (p.Ser334fs)
NM_003907.3(EIF2B5):c.1005C>T (p.Cys335=) rs1560108509
NM_003907.3(EIF2B5):c.1008T>G (p.Thr336=) rs747307470
NM_003907.3(EIF2B5):c.1013C>T (p.Ser338Phe) rs2109009103
NM_003907.3(EIF2B5):c.1014C>G (p.Ser338=) rs781468477
NM_003907.3(EIF2B5):c.1014C>T (p.Ser338=) rs781468477
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) rs113994069
NM_003907.3(EIF2B5):c.1017G>T (p.Arg339=) rs2109009115
NM_003907.3(EIF2B5):c.1029C>T (p.Tyr343=)
NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter) rs1560108537
NM_003907.3(EIF2B5):c.1041G>A (p.Glu347=) rs180945242
NM_003907.3(EIF2B5):c.1065C>A (p.Ile355=)
NM_003907.3(EIF2B5):c.1077T>A (p.Asn359Lys) rs1057519161
NM_003907.3(EIF2B5):c.1083C>T (p.Leu361=) rs2109009179
NM_003907.3(EIF2B5):c.1084C>T (p.Leu362=)
NM_003907.3(EIF2B5):c.1089C>T (p.Gly363=)
NM_003907.3(EIF2B5):c.1095C>T (p.Gly365=)
NM_003907.3(EIF2B5):c.10C>T (p.Pro4Ser)
NM_003907.3(EIF2B5):c.1110C>T (p.Ser370=)
NM_003907.3(EIF2B5):c.1122C>T (p.Ile374=)
NM_003907.3(EIF2B5):c.1129del (p.Ser377fs) rs2109009235
NM_003907.3(EIF2B5):c.1131T>C (p.Ser377=)
NM_003907.3(EIF2B5):c.1146C>G (p.Gly382=) rs2109009251
NM_003907.3(EIF2B5):c.1149C>T (p.Cys383=)
NM_003907.3(EIF2B5):c.1150C>A (p.His384Asn) rs2109009254
NM_003907.3(EIF2B5):c.1156+17A>T
NM_003907.3(EIF2B5):c.1156+1G>A
NM_003907.3(EIF2B5):c.1156+7A>G
NM_003907.3(EIF2B5):c.1156+9A>T rs771670171
NM_003907.3(EIF2B5):c.1157-15C>T
NM_003907.3(EIF2B5):c.1157-18C>G
NM_003907.3(EIF2B5):c.1157-20G>A
NM_003907.3(EIF2B5):c.1157-4C>T
NM_003907.3(EIF2B5):c.1160A>G (p.Asp387Gly)
NM_003907.3(EIF2B5):c.1164C>T (p.Asn388=) rs775010016
NM_003907.3(EIF2B5):c.1165G>A (p.Val389Met)
NM_003907.3(EIF2B5):c.1170G>A (p.Val390=)
NM_003907.3(EIF2B5):c.1182del (p.Tyr395fs) rs2109010145
NM_003907.3(EIF2B5):c.1196del (p.Gly399fs) rs2109010154
NM_003907.3(EIF2B5):c.1201C>T (p.Arg401Ter) rs776478626
NM_003907.3(EIF2B5):c.1218A>G (p.Ala406=) rs1713655160
NM_003907.3(EIF2B5):c.1224C>T (p.Ile408=)
NM_003907.3(EIF2B5):c.1230G>A (p.Gln410=) rs1577033816
NM_003907.3(EIF2B5):c.1233T>C (p.Ser411=)
NM_003907.3(EIF2B5):c.1234C>T (p.Leu412=)
NM_003907.3(EIF2B5):c.1236G>A (p.Leu412=)
NM_003907.3(EIF2B5):c.1236G>T (p.Leu412=) rs2109010215
NM_003907.3(EIF2B5):c.1242T>C (p.Cys414=) rs2109010220
NM_003907.3(EIF2B5):c.1248T>C (p.Asn416=)
NM_003907.3(EIF2B5):c.1261G>T (p.Glu421Ter)
NM_003907.3(EIF2B5):c.1273C>T (p.Leu425=)
NM_003907.3(EIF2B5):c.1274T>G (p.Leu425Arg)
NM_003907.3(EIF2B5):c.1283G>A (p.Arg428His)
NM_003907.3(EIF2B5):c.1290C>A (p.Val430=)
NM_003907.3(EIF2B5):c.1293C>T (p.Leu431=) rs1440749031
NM_003907.3(EIF2B5):c.1299C>T (p.Ser433=) rs2109010275
NM_003907.3(EIF2B5):c.12T>C (p.Pro4=) rs1467449031
NM_003907.3(EIF2B5):c.1302+14T>A
NM_003907.3(EIF2B5):c.1302+18C>T
NM_003907.3(EIF2B5):c.1302+1G>T rs1713659739
NM_003907.3(EIF2B5):c.1302+20G>C
NM_003907.3(EIF2B5):c.1302+7C>A
NM_003907.3(EIF2B5):c.1303-11T>C
NM_003907.3(EIF2B5):c.1303-15T>C
NM_003907.3(EIF2B5):c.1303-17_1303-16del
NM_003907.3(EIF2B5):c.1303-20T>C
NM_003907.3(EIF2B5):c.1303-5C>G
NM_003907.3(EIF2B5):c.1303-6C>G
NM_003907.3(EIF2B5):c.1303-9del
NM_003907.3(EIF2B5):c.1303-9dup
NM_003907.3(EIF2B5):c.1308C>G (p.Val436=) rs191351706
NM_003907.3(EIF2B5):c.1309G>A (p.Val437Met)
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) rs113994080
NM_003907.3(EIF2B5):c.1345A>T (p.Ile449Phe) rs1064795263
NM_003907.3(EIF2B5):c.1351T>C (p.Leu451=)
NM_003907.3(EIF2B5):c.1353G>A (p.Leu451=)
NM_003907.3(EIF2B5):c.1356C>T (p.His452=)
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)
NM_003907.3(EIF2B5):c.1375G>A (p.Asp459Asn)
NM_003907.3(EIF2B5):c.1407T>C (p.Ser469=)
NM_003907.3(EIF2B5):c.1422A>G (p.Glu474=)
NM_003907.3(EIF2B5):c.1425G>A (p.Lys475=)
NM_003907.3(EIF2B5):c.1428C>A (p.Asp476Glu)
NM_003907.3(EIF2B5):c.1428C>G (p.Asp476Glu) rs74478773
NM_003907.3(EIF2B5):c.1428C>T (p.Asp476=) rs74478773
NM_003907.3(EIF2B5):c.1444+11C>T
NM_003907.3(EIF2B5):c.1444+2T>C
NM_003907.3(EIF2B5):c.1444+9C>T
NM_003907.3(EIF2B5):c.1445-10C>G rs774733373
NM_003907.3(EIF2B5):c.1445-11G>A
NM_003907.3(EIF2B5):c.1445-14A>G
NM_003907.3(EIF2B5):c.1445-18G>A
NM_003907.3(EIF2B5):c.1445-20T>C
NM_003907.3(EIF2B5):c.1445-5T>C
NM_003907.3(EIF2B5):c.1445-9C>T
NM_003907.3(EIF2B5):c.1455A>C (p.Pro485=) rs1191233268
NM_003907.3(EIF2B5):c.1455A>G (p.Pro485=)
NM_003907.3(EIF2B5):c.1459G>A (p.Glu487Lys) rs113994081
NM_003907.3(EIF2B5):c.1462G>A (p.Val488Ile)
NM_003907.3(EIF2B5):c.1470T>C (p.Ala490=)
NM_003907.3(EIF2B5):c.1476C>A (p.Gly492=) rs1248645161
NM_003907.3(EIF2B5):c.1476C>T (p.Gly492=)
NM_003907.3(EIF2B5):c.1484del (p.Tyr495fs)
NM_003907.3(EIF2B5):c.1485C>T (p.Tyr495=) rs753507995
NM_003907.3(EIF2B5):c.1487del (p.Leu496fs) rs2109010667
NM_003907.3(EIF2B5):c.1494A>G (p.Lys498=) rs761413122
NM_003907.3(EIF2B5):c.1503C>T (p.Gly501=)
NM_003907.3(EIF2B5):c.1527A>G (p.Glu509=) rs752677373
NM_003907.3(EIF2B5):c.1543_1544del (p.Trp515fs) rs2109010735
NM_003907.3(EIF2B5):c.1546+11C>T rs1206059000
NM_003907.3(EIF2B5):c.1546+14G>C
NM_003907.3(EIF2B5):c.1546+18C>G
NM_003907.3(EIF2B5):c.1546+1G>A
NM_003907.3(EIF2B5):c.1546+2T>C
NM_003907.3(EIF2B5):c.1546+9G>C
NM_003907.3(EIF2B5):c.1547-12A>C
NM_003907.3(EIF2B5):c.1547-12A>G
NM_003907.3(EIF2B5):c.1547-13T>A
NM_003907.3(EIF2B5):c.1547-17C>A
NM_003907.3(EIF2B5):c.1547-17C>T
NM_003907.3(EIF2B5):c.1547-20C>T
NM_003907.3(EIF2B5):c.1547-7T>C rs2109010845
NM_003907.3(EIF2B5):c.1547-9G>A
NM_003907.3(EIF2B5):c.1551C>G (p.Leu517=)
NM_003907.3(EIF2B5):c.1556T>A (p.Ile519Asn)
NM_003907.3(EIF2B5):c.1590_1592delinsCC (p.Glu530fs) rs1553807905
NM_003907.3(EIF2B5):c.1590del (p.Glu530fs) rs2109010897
NM_003907.3(EIF2B5):c.1593A>C (p.Gln531His)
NM_003907.3(EIF2B5):c.1597A>G (p.Met533Val)
NM_003907.3(EIF2B5):c.15A>G (p.Val5=)
NM_003907.3(EIF2B5):c.1608G>A (p.Glu536=)
NM_003907.3(EIF2B5):c.1622G>A (p.Arg541Gln)
NM_003907.3(EIF2B5):c.1625G>C (p.Gly542Ala) rs765352143
NM_003907.3(EIF2B5):c.1633C>T (p.Pro545Ser)
NM_003907.3(EIF2B5):c.1644T>C (p.Asp548=)
NM_003907.3(EIF2B5):c.1646A>C (p.Asp549Ala)
NM_003907.3(EIF2B5):c.1654+11G>A
NM_003907.3(EIF2B5):c.1654+13G>A
NM_003907.3(EIF2B5):c.1654+14dup
NM_003907.3(EIF2B5):c.1654+16G>A
NM_003907.3(EIF2B5):c.1654+1G>T rs2109010973
NM_003907.3(EIF2B5):c.1654+20T>C
NM_003907.3(EIF2B5):c.1655-11T>C
NM_003907.3(EIF2B5):c.1655-7A>C
NM_003907.3(EIF2B5):c.1655-9T>C rs1161933786
NM_003907.3(EIF2B5):c.1655T>C (p.Val552Ala) rs2109011086
NM_003907.3(EIF2B5):c.1680A>G (p.Thr560=)
NM_003907.3(EIF2B5):c.1684C>T (p.Gln562Ter)
NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)
NM_003907.3(EIF2B5):c.1698G>A (p.Glu566=) rs2109011121
NM_003907.3(EIF2B5):c.1704C>T (p.Asn568=) rs2109011128
NM_003907.3(EIF2B5):c.1712G>A (p.Cys571Tyr)
NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) rs375421867
NM_003907.3(EIF2B5):c.1713T>C (p.Cys571=) rs2109011143
NM_003907.3(EIF2B5):c.1725C>T (p.Val575=)
NM_003907.3(EIF2B5):c.1728G>A (p.Leu576=)
NM_003907.3(EIF2B5):c.1745+10G>A rs766573432
NM_003907.3(EIF2B5):c.1745+11C>G
NM_003907.3(EIF2B5):c.1745+12C>G
NM_003907.3(EIF2B5):c.1745+13C>T
NM_003907.3(EIF2B5):c.1745+14del
NM_003907.3(EIF2B5):c.1745+19T>C
NM_003907.3(EIF2B5):c.1745+6A>G
NM_003907.3(EIF2B5):c.1745+7G>A
NM_003907.3(EIF2B5):c.1745+8C>A
NM_003907.3(EIF2B5):c.1746-15C>G
NM_003907.3(EIF2B5):c.1746-17C>T
NM_003907.3(EIF2B5):c.1746-19C>T
NM_003907.3(EIF2B5):c.1746-8C>A
NM_003907.3(EIF2B5):c.1758_1759inv (p.Ile587Val)
NM_003907.3(EIF2B5):c.1764T>C (p.Ser588=)
NM_003907.3(EIF2B5):c.1774G>A (p.Val592Met) rs2109011410
NM_003907.3(EIF2B5):c.1778T>C (p.Met593Thr)
NM_003907.3(EIF2B5):c.1781A>G (p.Gln594Arg)
NM_003907.3(EIF2B5):c.1786C>T (p.Leu596=)
NM_003907.3(EIF2B5):c.1788G>A (p.Leu596=)
NM_003907.3(EIF2B5):c.1794C>T (p.His598=)
NM_003907.3(EIF2B5):c.1797G>A (p.Val599=) rs2109011425
NM_003907.3(EIF2B5):c.1801C>T (p.Leu601=) rs2109011430
NM_003907.3(EIF2B5):c.1807T>A (p.Phe603Ile)
NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)
NM_003907.3(EIF2B5):c.1815G>A (p.Leu605=)
NM_003907.3(EIF2B5):c.1818A>G (p.Gln606=)
NM_003907.3(EIF2B5):c.1827T>C (p.Asp609=) rs2109011454
NM_003907.3(EIF2B5):c.1832C>G (p.Pro611Arg)
NM_003907.3(EIF2B5):c.1832C>T (p.Pro611Leu)
NM_003907.3(EIF2B5):c.1839C>T (p.Asp613=)
NM_003907.3(EIF2B5):c.1847G>A (p.Arg616His)
NM_003907.3(EIF2B5):c.1848C>T (p.Arg616=)
NM_003907.3(EIF2B5):c.1857C>G (p.Ala619=)
NM_003907.3(EIF2B5):c.1860G>A (p.Leu620=) rs1577035576
NM_003907.3(EIF2B5):c.1863G>C (p.Leu621=)
NM_003907.3(EIF2B5):c.1868_1869+10del
NM_003907.3(EIF2B5):c.1869+12T>C
NM_003907.3(EIF2B5):c.1870-3T>C
NM_003907.3(EIF2B5):c.1870-4A>C rs994445884
NM_003907.3(EIF2B5):c.1870-4A>G rs994445884
NM_003907.3(EIF2B5):c.1870-5C>T
NM_003907.3(EIF2B5):c.1870-9C>T rs2109011814
NM_003907.3(EIF2B5):c.1873C>G (p.Leu625Val)
NM_003907.3(EIF2B5):c.1884G>A (p.Trp628Ter) rs113994084
NM_003907.3(EIF2B5):c.1884G>T (p.Trp628Cys) rs113994084
NM_003907.3(EIF2B5):c.1886G>A (p.Ser629Asn) rs1249963031
NM_003907.3(EIF2B5):c.1899G>A (p.Arg633=) rs758223980
NM_003907.3(EIF2B5):c.18G>A (p.Val6=)
NM_003907.3(EIF2B5):c.1902C>T (p.Asn634=)
NM_003907.3(EIF2B5):c.1905C>T (p.Tyr635=)
NM_003907.3(EIF2B5):c.1917A>G (p.Ala639=)
NM_003907.3(EIF2B5):c.1921G>A (p.Asp641Asn)
NM_003907.3(EIF2B5):c.1929G>A (p.Leu643=) rs1031710054
NM_003907.3(EIF2B5):c.1942G>A (p.Ala648Thr) rs2109011906
NM_003907.3(EIF2B5):c.1945A>G (p.Ile649Val)
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003907.3(EIF2B5):c.195+14A>C
NM_003907.3(EIF2B5):c.195+14A>G
NM_003907.3(EIF2B5):c.195+14A>T
NM_003907.3(EIF2B5):c.195+16G>T
NM_003907.3(EIF2B5):c.195+1G>T rs1713312742
NM_003907.3(EIF2B5):c.195+20G>A
NM_003907.3(EIF2B5):c.195+2T>G
NM_003907.3(EIF2B5):c.195+7G>T rs2109005721
NM_003907.3(EIF2B5):c.195+9C>A rs2109005722
NM_003907.3(EIF2B5):c.196-11G>A
NM_003907.3(EIF2B5):c.196-5_196-4del
NM_003907.3(EIF2B5):c.196-82G>T rs111248061
NM_003907.3(EIF2B5):c.196-8T>C
NM_003907.3(EIF2B5):c.196-9A>G
NM_003907.3(EIF2B5):c.1960C>T (p.Leu654=) rs1272712755
NM_003907.3(EIF2B5):c.1960del (p.Phe653_Leu654insTer)
NM_003907.3(EIF2B5):c.1962A>C (p.Leu654=) rs2109011918
NM_003907.3(EIF2B5):c.1974T>C (p.Ala658=) rs2109011925
NM_003907.3(EIF2B5):c.1977T>G (p.Leu659=)
NM_003907.3(EIF2B5):c.1983T>C (p.Ile661=)
NM_003907.3(EIF2B5):c.1988T>C (p.Met663Thr)
NM_003907.3(EIF2B5):c.198C>T (p.Val66=) rs2109006299
NM_003907.3(EIF2B5):c.1992C>T (p.Ala664=)
NM_003907.3(EIF2B5):c.1995+11C>T
NM_003907.3(EIF2B5):c.1995+14C>G
NM_003907.3(EIF2B5):c.1995+19C>T
NM_003907.3(EIF2B5):c.1995+20C>T
NM_003907.3(EIF2B5):c.1995+21del
NM_003907.3(EIF2B5):c.1995+7A>G
NM_003907.3(EIF2B5):c.1995+9G>T rs2109011957
NM_003907.3(EIF2B5):c.1996-17T>G
NM_003907.3(EIF2B5):c.1996-7T>C rs1713780708
NM_003907.3(EIF2B5):c.1998A>T (p.Val666=) rs1378608912
NM_003907.3(EIF2B5):c.1999C>T (p.Leu667=)
NM_003907.3(EIF2B5):c.2001G>C (p.Leu667=)
NM_003907.3(EIF2B5):c.200_206del (p.Leu67fs)
NM_003907.3(EIF2B5):c.2013C>T (p.Tyr671=) rs780225575
NM_003907.3(EIF2B5):c.2028G>A (p.Leu676=)
NM_003907.3(EIF2B5):c.2039C>T (p.Thr680Ile)
NM_003907.3(EIF2B5):c.203T>C (p.Leu68Ser) rs113994044
NM_003907.3(EIF2B5):c.204G>A (p.Leu68=)
NM_003907.3(EIF2B5):c.2052G>C (p.Trp684Cys)
NM_003907.3(EIF2B5):c.2058C>T (p.Ser686=)
NM_003907.3(EIF2B5):c.2067T>C (p.Asp689=)
NM_003907.3(EIF2B5):c.2082C>A (p.Gly694=) rs199518211
NM_003907.3(EIF2B5):c.2090T>G (p.Leu697Trp)
NM_003907.3(EIF2B5):c.2091G>A (p.Leu697=)
NM_003907.3(EIF2B5):c.2092C>T (p.Arg698Cys)
NM_003907.3(EIF2B5):c.2093G>A (p.Arg698His)
NM_003907.3(EIF2B5):c.2093G>T (p.Arg698Leu)
NM_003907.3(EIF2B5):c.2106+10G>A rs2109012279
NM_003907.3(EIF2B5):c.2106+19_2106+21del
NM_003907.3(EIF2B5):c.2106+20T>C
NM_003907.3(EIF2B5):c.2106+5G>A
NM_003907.3(EIF2B5):c.2106+7C>T rs2109012273
NM_003907.3(EIF2B5):c.2106+8A>G
NM_003907.3(EIF2B5):c.2107-10T>C rs2109012388
NM_003907.3(EIF2B5):c.2107-12G>C rs1368238343
NM_003907.3(EIF2B5):c.2107-19C>T
NM_003907.3(EIF2B5):c.2107-5T>C
NM_003907.3(EIF2B5):c.2107-8_2107-6del rs780429420
NM_003907.3(EIF2B5):c.2115G>A (p.Arg705=) rs1016342775
NM_003907.3(EIF2B5):c.2133A>G (p.Lys711=)
NM_003907.3(EIF2B5):c.2136G>A (p.Glu712=)
NM_003907.3(EIF2B5):c.213C>G (p.Ala71=) rs2109006313
NM_003907.3(EIF2B5):c.2148G>A (p.Glu716=) rs1164346824
NM_003907.3(EIF2B5):c.2161G>T (p.Asp721Tyr)
NM_003907.3(EIF2B5):c.218T>G (p.Val73Gly)
NM_003907.3(EIF2B5):c.21G>A (p.Ala7=)
NM_003907.3(EIF2B5):c.21G>C (p.Ala7=)
NM_003907.3(EIF2B5):c.224T>C (p.Leu75Ser)
NM_003907.3(EIF2B5):c.231C>T (p.Asp77=)
NM_003907.3(EIF2B5):c.247C>T (p.Leu83=)
NM_003907.3(EIF2B5):c.24G>A (p.Pro8=)
NM_003907.3(EIF2B5):c.250del (p.Thr84fs)
NM_003907.3(EIF2B5):c.252T>C (p.Thr84=)
NM_003907.3(EIF2B5):c.252T>G (p.Thr84=)
NM_003907.3(EIF2B5):c.258A>G (p.Thr86=)
NM_003907.3(EIF2B5):c.261T>C (p.Gly87=) rs1000636351
NM_003907.3(EIF2B5):c.273A>G (p.Thr91=)
NM_003907.3(EIF2B5):c.278T>C (p.Val93Ala)
NM_003907.3(EIF2B5):c.279C>T (p.Val93=) rs2109006358
NM_003907.3(EIF2B5):c.27T>G (p.Pro9=) rs2109005519
NM_003907.3(EIF2B5):c.291G>A (p.Trp97Ter) rs1713376361
NM_003907.3(EIF2B5):c.320+17T>C
NM_003907.3(EIF2B5):c.320+20C>T
NM_003907.3(EIF2B5):c.321-10C>A
NM_003907.3(EIF2B5):c.321-16C>T
NM_003907.3(EIF2B5):c.321-18C>T
NM_003907.3(EIF2B5):c.321-4T>G rs1713419738
NM_003907.3(EIF2B5):c.321-7_321-4del rs2109006876
NM_003907.3(EIF2B5):c.324G>A (p.Lys108=)
NM_003907.3(EIF2B5):c.325T>G (p.Ser109Ala)
NM_003907.3(EIF2B5):c.336C>G (p.Cys112Trp)
NM_003907.3(EIF2B5):c.336C>T (p.Cys112=) rs139538250
NM_003907.3(EIF2B5):c.339C>T (p.Arg113=) rs2109006897
NM_003907.3(EIF2B5):c.33G>A (p.Val11=)
NM_003907.3(EIF2B5):c.350_351del (p.Leu117fs)
NM_003907.3(EIF2B5):c.361C>T (p.Arg121Ter) rs1030566286
NM_003907.3(EIF2B5):c.372A>C (p.Thr124=)
NM_003907.3(EIF2B5):c.378G>A (p.Glu126=) rs2109006935
NM_003907.3(EIF2B5):c.380T>C (p.Leu127Pro) rs1057521084
NM_003907.3(EIF2B5):c.381C>T (p.Leu127=)
NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)
NM_003907.3(EIF2B5):c.386G>T (p.Arg129Leu)
NM_003907.3(EIF2B5):c.399T>C (p.Asp133=) rs2109006952
NM_003907.3(EIF2B5):c.3G>C (p.Met1Ile) rs2109005483
NM_003907.3(EIF2B5):c.402C>T (p.Val134=)
NM_003907.3(EIF2B5):c.406C>T (p.Arg136Cys) rs113994051
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003907.3(EIF2B5):c.411T>C (p.Asp137=) rs1713425368
NM_003907.3(EIF2B5):c.412G>A (p.Val138Ile) rs1393683991
NM_003907.3(EIF2B5):c.416_417dup (p.Ala140fs) rs1312772215
NM_003907.3(EIF2B5):c.417T>C (p.Asp139=) rs2109006974
NM_003907.3(EIF2B5):c.420C>T (p.Ala140=) rs781418689
NM_003907.3(EIF2B5):c.42T>C (p.Ser14=)
NM_003907.3(EIF2B5):c.434G>A (p.Arg145His)
NM_003907.3(EIF2B5):c.439_442del (p.Asp147fs)
NM_003907.3(EIF2B5):c.43C>T (p.Arg15Trp)
NM_003907.3(EIF2B5):c.444T>C (p.Phe148=)
NM_003907.3(EIF2B5):c.44G>T (p.Arg15Leu)
NM_003907.3(EIF2B5):c.450G>C (p.Leu150=) rs773972380
NM_003907.3(EIF2B5):c.450G>T (p.Leu150=) rs773972380
NM_003907.3(EIF2B5):c.45G>A (p.Arg15=) rs1029008900
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)
NM_003907.3(EIF2B5):c.468C>T (p.Ile156=) rs1577029823
NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)
NM_003907.3(EIF2B5):c.480T>C (p.Asn160=)
NM_003907.3(EIF2B5):c.487_492del (p.Arg163_Ala164del)
NM_003907.3(EIF2B5):c.506+17G>A
NM_003907.3(EIF2B5):c.506+7A>G
NM_003907.3(EIF2B5):c.506+9G>A rs1307822038
NM_003907.3(EIF2B5):c.507-11G>A
NM_003907.3(EIF2B5):c.507-15T>C
NM_003907.3(EIF2B5):c.507-18C>T
NM_003907.3(EIF2B5):c.507-19T>A
NM_003907.3(EIF2B5):c.514C>A (p.Arg172=)
NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)
NM_003907.3(EIF2B5):c.520C>T (p.Leu174=)
NM_003907.3(EIF2B5):c.521T>C (p.Leu174Pro)
NM_003907.3(EIF2B5):c.530A>G (p.Asn177Ser)
NM_003907.3(EIF2B5):c.540G>A (p.Val180=) rs1404680053
NM_003907.3(EIF2B5):c.540G>T (p.Val180=)
NM_003907.3(EIF2B5):c.547A>G (p.Met183Val)
NM_003907.3(EIF2B5):c.550A>T (p.Ile184Phe) rs1282408410
NM_003907.3(EIF2B5):c.552C>T (p.Ile184=) rs1713437963
NM_003907.3(EIF2B5):c.56G>T (p.Arg19Leu)
NM_003907.3(EIF2B5):c.579A>G (p.Pro193=)
NM_003907.3(EIF2B5):c.59G>A (p.Ser20Asn)
NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val) rs372850426
NM_003907.3(EIF2B5):c.601G>A (p.Val201Met)
NM_003907.3(EIF2B5):c.603G>A (p.Val201=)
NM_003907.3(EIF2B5):c.609G>A (p.Val203=)
NM_003907.3(EIF2B5):c.60C>T (p.Ser20=)
NM_003907.3(EIF2B5):c.612T>A (p.Ala204=)
NM_003907.3(EIF2B5):c.613G>A (p.Val205Met) rs1057520047
NM_003907.3(EIF2B5):c.618T>C (p.Asp206=) rs2109007181
NM_003907.3(EIF2B5):c.61G>A (p.Gly21Ser)
NM_003907.3(EIF2B5):c.625A>G (p.Thr209Ala)
NM_003907.3(EIF2B5):c.630C>T (p.Asn210=)
NM_003907.3(EIF2B5):c.632G>C (p.Arg211Thr)
NM_003907.3(EIF2B5):c.633G>A (p.Arg211=)
NM_003907.3(EIF2B5):c.636T>A (p.Val212=) rs2109007195
NM_003907.3(EIF2B5):c.642T>C (p.His214=) rs1458136570
NM_003907.3(EIF2B5):c.648G>A (p.Gln216=)
NM_003907.3(EIF2B5):c.654C>T (p.Thr218=)
NM_003907.3(EIF2B5):c.655C>T (p.Gln219Ter)
NM_003907.3(EIF2B5):c.66G>T (p.Ala22=) rs768780694
NM_003907.3(EIF2B5):c.684+12T>A
NM_003907.3(EIF2B5):c.684+14T>C
NM_003907.3(EIF2B5):c.684+15G>A
NM_003907.3(EIF2B5):c.684+17G>A
NM_003907.3(EIF2B5):c.684+18G>A
NM_003907.3(EIF2B5):c.684+19T>C
NM_003907.3(EIF2B5):c.684+7G>A
NM_003907.3(EIF2B5):c.685-10C>T rs2109007300
NM_003907.3(EIF2B5):c.685-12T>C
NM_003907.3(EIF2B5):c.685-20C>T
NM_003907.3(EIF2B5):c.685-4A>C
NM_003907.3(EIF2B5):c.685-4A>G rs2109007303
NM_003907.3(EIF2B5):c.690G>A (p.Leu230=) rs2109007310
NM_003907.3(EIF2B5):c.692_702del (p.Leu230_Phe231insTer)
NM_003907.3(EIF2B5):c.699C>T (p.Gly233=)
NM_003907.3(EIF2B5):c.69G>A (p.Gly23=) rs972606125
NM_003907.3(EIF2B5):c.69G>C (p.Gly23=)
NM_003907.3(EIF2B5):c.69G>T (p.Gly23=)
NM_003907.3(EIF2B5):c.6G>A (p.Ala2=)
NM_003907.3(EIF2B5):c.702T>C (p.Ser234=)
NM_003907.3(EIF2B5):c.702dup (p.Ser235Ter) rs2109007324
NM_003907.3(EIF2B5):c.721C>A (p.Arg241=)
NM_003907.3(EIF2B5):c.721C>T (p.Arg241Ter)
NM_003907.3(EIF2B5):c.722G>A (p.Arg241Gln) rs1713453539
NM_003907.3(EIF2B5):c.722G>T (p.Arg241Leu)
NM_003907.3(EIF2B5):c.729T>C (p.Asp243=) rs2109007355
NM_003907.3(EIF2B5):c.72G>A (p.Pro24=) rs1298889640
NM_003907.3(EIF2B5):c.730T>C (p.Leu244=) rs1281179573
NM_003907.3(EIF2B5):c.733C>T (p.Leu245=)
NM_003907.3(EIF2B5):c.744T>C (p.His248=) rs1262749952
NM_003907.3(EIF2B5):c.759T>C (p.Ser253=) rs1713455489
NM_003907.3(EIF2B5):c.765+16C>T
NM_003907.3(EIF2B5):c.765+18G>A
NM_003907.3(EIF2B5):c.765+20G>A
NM_003907.3(EIF2B5):c.765G>T (p.Gln255His)
NM_003907.3(EIF2B5):c.766-11C>T
NM_003907.3(EIF2B5):c.766-14C>T
NM_003907.3(EIF2B5):c.766-16C>T
NM_003907.3(EIF2B5):c.766-18T>G
NM_003907.3(EIF2B5):c.766-20A>C
NM_003907.3(EIF2B5):c.771A>C (p.Ala257=) rs2109008604
NM_003907.3(EIF2B5):c.780T>C (p.Phe260=)
NM_003907.3(EIF2B5):c.783A>G (p.Thr261=) rs2109008614
NM_003907.3(EIF2B5):c.789C>T (p.Asn263=)
NM_003907.3(EIF2B5):c.792delinsACA (p.Phe264fs)
NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)
NM_003907.3(EIF2B5):c.7G>A (p.Ala3Thr)
NM_003907.3(EIF2B5):c.805C>A (p.Arg269=)
NM_003907.3(EIF2B5):c.805C>G (p.Arg269Gly) rs113994058
NM_003907.3(EIF2B5):c.805C>T (p.Arg269Ter) rs113994058
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003907.3(EIF2B5):c.828C>G (p.Leu276=)
NM_003907.3(EIF2B5):c.831A>G (p.Leu277=) rs2109008670
NM_003907.3(EIF2B5):c.837T>C (p.Asn279=) rs774258154
NM_003907.3(EIF2B5):c.843+10G>A
NM_003907.3(EIF2B5):c.843+10G>C
NM_003907.3(EIF2B5):c.843+14_843+15del
NM_003907.3(EIF2B5):c.843+15C>T
NM_003907.3(EIF2B5):c.843+18_843+20del
NM_003907.3(EIF2B5):c.843+18del
NM_003907.3(EIF2B5):c.843+18dup
NM_003907.3(EIF2B5):c.843+1G>A rs1254951931
NM_003907.3(EIF2B5):c.843+8A>T rs1713560931
NM_003907.3(EIF2B5):c.844-13C>T
NM_003907.3(EIF2B5):c.844-15T>C
NM_003907.3(EIF2B5):c.844-6A>T
NM_003907.3(EIF2B5):c.844-9C>T
NM_003907.3(EIF2B5):c.846C>A (p.Ile282=)
NM_003907.3(EIF2B5):c.849A>G (p.Leu283=) rs1229452758
NM_003907.3(EIF2B5):c.871G>A (p.Val291Ile)
NM_003907.3(EIF2B5):c.872dup (p.Thr292fs)
NM_003907.3(EIF2B5):c.873A>C (p.Val291=)
NM_003907.3(EIF2B5):c.873A>G (p.Val291=) rs1024066059
NM_003907.3(EIF2B5):c.891T>C (p.Gly297=)
NM_003907.3(EIF2B5):c.894C>T (p.Ala298=) rs2109008931
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060
NM_003907.3(EIF2B5):c.896G>T (p.Arg299Leu) rs113994060
NM_003907.3(EIF2B5):c.906C>T (p.Asn302=)
NM_003907.3(EIF2B5):c.907C>T (p.Leu303=)
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780
NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)
NM_003907.3(EIF2B5):c.915G>T (p.Met305Ile) rs1431803321
NM_003907.3(EIF2B5):c.925G>A (p.Val309Ile) rs113994061
NM_003907.3(EIF2B5):c.930T>C (p.Cys310=)
NM_003907.3(EIF2B5):c.945C>A (p.Arg315=)
NM_003907.3(EIF2B5):c.948A>C (p.Arg316=)
NM_003907.3(EIF2B5):c.953T>C (p.Val318Ala) rs1713583429
NM_003907.3(EIF2B5):c.956A>G (p.Tyr319Cys)
NM_003907.3(EIF2B5):c.963C>T (p.Leu321=) rs2109009044
NM_003907.3(EIF2B5):c.965C>G (p.Thr322Ser) rs1191243277
NM_003907.3(EIF2B5):c.966C>T (p.Thr322=)
NM_003907.3(EIF2B5):c.975G>C (p.Ala325=)
NM_003907.3(EIF2B5):c.984T>C (p.Thr328=)
NM_003907.3(EIF2B5):c.987C>T (p.Asp329=) rs368501008
NM_003907.3(EIF2B5):c.990C>T (p.Ser330=) rs758565943
NM_003907.3(EIF2B5):c.996C>T (p.Thr332=)

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