ClinVar Miner

List of variants in gene EEF2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_001961.4(EEF2):c.1150+15T>C rs36525 0.86196
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86195
NM_001961.4(EEF2):c.*231A>C rs3170368 0.24955
NM_001961.4(EEF2):c.324T>C (p.His108=) rs2230560 0.24242
NM_001961.4(EEF2):c.898-76T>C rs45443207 0.24193
NM_001961.4(EEF2):c.219-13C>T rs2305107 0.22761
NM_001961.4(EEF2):c.1713+171C>G rs62130415 0.13005
NM_001961.4(EEF2):c.4-105C>T rs8100131 0.12151
NM_001961.4(EEF2):c.3+228T>C rs6510778 0.10778
NM_001961.4(EEF2):c.612+20G>A rs7253591 0.10517
NM_001961.4(EEF2):c.*111C>T rs2230567 0.09840
NM_001961.4(EEF2):c.*3G>A rs2230566 0.09803
NM_001961.4(EEF2):c.450C>T (p.Arg150=) rs2230561 0.06901
NM_001961.4(EEF2):c.2384-118G>A rs62130414 0.06711
NM_001961.4(EEF2):c.3+126G>C rs62131469 0.06532
NM_001961.4(EEF2):c.219-273A>G rs16992164 0.06102
NM_001961.4(EEF2):c.1713+15A>G rs74800864 0.05219
NM_001961.4(EEF2):c.4-192A>G rs28635819 0.03400
NM_001961.4(EEF2):c.567C>T (p.Ile189=) rs34017760 0.03303
NM_001961.4(EEF2):c.2424G>A (p.Ala808=) rs2230565 0.02082
NM_001961.4(EEF2):c.400+26C>T rs76916233 0.01609
NM_001961.4(EEF2):c.906T>C (p.Asp302=) rs11544965 0.01578
NM_001961.4(EEF2):c.2384-163A>G rs79632895 0.01461
NM_001961.4(EEF2):c.711C>T (p.Ala237=) rs11544964 0.01461
NM_001961.4(EEF2):c.218+204C>T rs117617967 0.01305
NM_001961.4(EEF2):c.4-141G>A rs118129667 0.01159
NM_001961.4(EEF2):c.2067+55C>T rs74995777 0.01078
NM_001961.4(EEF2):c.1346+34A>C rs118050864 0.01052
NM_001961.4(EEF2):c.2307C>T (p.His769=) rs35805642 0.00892
NM_001961.4(EEF2):c.2384-197A>G rs117080025 0.00847
NM_001961.4(EEF2):c.1714-208C>T rs115339638 0.00760
NM_001961.4(EEF2):c.792-31A>G rs141268421 0.00638
NM_001961.4(EEF2):c.2384-15C>T rs74724893 0.00493
NM_001961.4(EEF2):c.1668C>A (p.Ile556=) rs2305111 0.00472
NM_001961.4(EEF2):c.2067+10G>A rs138298305 0.00438
NM_001961.4(EEF2):c.2530C>T (p.Leu844=) rs34012995 0.00418
NM_001961.4(EEF2):c.1137C>T (p.Asp379=) rs140573073 0.00313
NM_001961.4(EEF2):c.612+13C>G rs115380849 0.00305
NM_001961.4(EEF2):c.2379C>T (p.Ser793=) rs151205847 0.00287
NM_001961.4(EEF2):c.2251-19T>A rs147961884 0.00225
NM_001961.4(EEF2):c.400+18C>T rs181191801 0.00222
NM_001961.4(EEF2):c.2460G>C (p.Leu820=) rs145279867 0.00150
NM_001961.4(EEF2):c.1549C>T (p.Leu517=) rs148099639 0.00146
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141 0.00122
NM_001961.4(EEF2):c.1215C>T (p.Ser405=) rs143237258 0.00120
NM_001961.4(EEF2):c.1151-7C>T rs200181170 0.00114
NM_001961.4(EEF2):c.1677G>A (p.Lys559=) rs146823249 0.00108
NM_001961.4(EEF2):c.1569G>A (p.Gly523=) rs3816321 0.00088
NM_001961.4(EEF2):c.*299C>T rs73530391 0.00077
NM_001961.4(EEF2):c.486C>T (p.Arg162=) rs2230562 0.00074
NM_001961.4(EEF2):c.1770C>T (p.Leu590=) rs145540039 0.00070
NM_001961.4(EEF2):c.2430C>T (p.Pro810=) rs147647933 0.00070
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681 0.00053
NM_001961.4(EEF2):c.1746G>A (p.Thr582=) rs148878859 0.00052
NM_001961.4(EEF2):c.613-13C>T rs201405426 0.00037
NM_001961.4(EEF2):c.2251-14T>C rs2305112 0.00036
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568 0.00029
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser) rs145985140 0.00026
NM_001961.4(EEF2):c.1150+20G>A rs543184542 0.00025
NM_001961.4(EEF2):c.1233C>T (p.Tyr411=) rs79533804 0.00024
NM_001961.4(EEF2):c.2384-3C>T rs111264043 0.00021
NM_001961.4(EEF2):c.288C>T (p.Ala96=) rs369558753 0.00019
NM_001961.4(EEF2):c.401-11C>T rs541861324 0.00019
NM_001961.4(EEF2):c.401-12C>T rs202156613 0.00018
NM_001961.4(EEF2):c.1347-16C>T rs200014508 0.00017
NM_001961.4(EEF2):c.633C>T (p.Thr211=) rs144298597 0.00017
NM_001961.4(EEF2):c.543C>T (p.Ile181=) rs202047073 0.00016
NM_001961.4(EEF2):c.1453A>G (p.Ile485Val) rs200110903 0.00015
NM_001961.4(EEF2):c.741C>T (p.Ala247=) rs150801930 0.00015
NM_001961.4(EEF2):c.1869C>T (p.Ser623=) rs147570651 0.00013
NM_001961.4(EEF2):c.219-14C>T rs373518967 0.00013
NM_001961.4(EEF2):c.2313C>T (p.Phe771=) rs140987549 0.00013
NM_001961.4(EEF2):c.60C>A (p.Arg20=) rs79072361 0.00012
NM_001961.4(EEF2):c.612+9C>T rs201732449 0.00012
NM_001961.4(EEF2):c.219-15C>T rs754609714 0.00011
NM_001961.4(EEF2):c.2331C>T (p.Ala777=) rs533090086 0.00011
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) rs200480185 0.00011
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_001961.4(EEF2):c.810C>T (p.Asn270=) rs201754413 0.00010
NM_001961.4(EEF2):c.1542G>A (p.Pro514=) rs563924657 0.00009
NM_001961.4(EEF2):c.1926C>T (p.Asp642=) rs147383237 0.00009
NM_001961.4(EEF2):c.2280C>T (p.Tyr760=) rs373921290 0.00009
NM_001961.4(EEF2):c.1896G>T (p.Ala632=) rs373062093 0.00008
NM_001961.4(EEF2):c.402C>T (p.Gly134=) rs150539044 0.00008
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647 0.00008
NM_001961.4(EEF2):c.1012-2dup rs759454130 0.00007
NM_001961.4(EEF2):c.1695C>T (p.His565=) rs370662833 0.00007
NM_001961.4(EEF2):c.198T>C (p.Arg66=) rs536886320 0.00007
NM_001961.4(EEF2):c.218+16C>T rs752418537 0.00007
NM_001961.4(EEF2):c.401-14C>T rs373012926 0.00007
NM_001961.4(EEF2):c.153C>T (p.Ala51=) rs373815379 0.00006
NM_001961.4(EEF2):c.15G>A (p.Thr5=) rs192703161 0.00006
NM_001961.4(EEF2):c.1606-14C>T rs762877907 0.00006
NM_001961.4(EEF2):c.1836C>T (p.Gly612=) rs201326053 0.00006
NM_001961.4(EEF2):c.339G>A (p.Ser113=) rs144457327 0.00006
NM_001961.4(EEF2):c.4-8T>A rs371271708 0.00006
NM_001961.4(EEF2):c.522C>T (p.Leu174=) rs555068664 0.00006
NM_001961.4(EEF2):c.1012-5C>T rs780215634 0.00005
NM_001961.4(EEF2):c.1044C>T (p.Asp348=) rs543148165 0.00005
NM_001961.4(EEF2):c.1290G>A (p.Met430Ile) rs772435234 0.00005
NM_001961.4(EEF2):c.1989C>T (p.Thr663=) rs745451916 0.00005
NM_001961.4(EEF2):c.2367C>T (p.Pro789=) rs760361343 0.00005
NM_001961.4(EEF2):c.282C>T (p.Asp94=) rs527597574 0.00005
NM_001961.4(EEF2):c.791+11C>T rs559359481 0.00005
NM_001961.4(EEF2):c.791+3G>A rs112144519 0.00005
NM_001961.4(EEF2):c.1150+4C>T rs369925168 0.00004
NM_001961.4(EEF2):c.279G>A (p.Lys93=) rs547585435 0.00004
NM_001961.4(EEF2):c.551A>G (p.Asn184Ser) rs143380902 0.00004
NM_001961.4(EEF2):c.613-18C>T rs780288555 0.00004
NM_001961.4(EEF2):c.791+9C>T rs757366805 0.00004
NM_001961.4(EEF2):c.1088C>T (p.Thr363Met) rs980260154 0.00003
NM_001961.4(EEF2):c.1150+19C>T rs192455502 0.00003
NM_001961.4(EEF2):c.1176C>T (p.Gly392=) rs147518416 0.00003
NM_001961.4(EEF2):c.1347-17C>T rs775950773 0.00003
NM_001961.4(EEF2):c.1605+8C>T rs373448532 0.00003
NM_001961.4(EEF2):c.1647C>T (p.Ala549=) rs758294276 0.00003
NM_001961.4(EEF2):c.1702A>G (p.Ile568Val) rs773849734 0.00003
NM_001961.4(EEF2):c.1713+9C>T rs374239269 0.00003
NM_001961.4(EEF2):c.1767G>T (p.Val589=) rs1419524650 0.00003
NM_001961.4(EEF2):c.2067+9C>T rs766599785 0.00003
NM_001961.4(EEF2):c.210C>T (p.Ile70=) rs771555087 0.00003
NM_001961.4(EEF2):c.2285T>C (p.Val762Ala) rs776792190 0.00003
NM_001961.4(EEF2):c.427C>T (p.Leu143=) rs138510259 0.00003
NM_001961.4(EEF2):c.897+15C>T rs374895669 0.00003
NM_001961.4(EEF2):c.898-17C>T rs780007360 0.00003
NM_001961.4(EEF2):c.1011+5G>A rs770699529 0.00002
NM_001961.4(EEF2):c.1329C>T (p.Tyr443=) rs752629059 0.00002
NM_001961.4(EEF2):c.132C>T (p.Gly44=) rs758482203 0.00002
NM_001961.4(EEF2):c.1356G>A (p.Leu452=) rs765014290 0.00002
NM_001961.4(EEF2):c.1383C>T (p.Ile461=) rs373671925 0.00002
NM_001961.4(EEF2):c.138C>T (p.Ile46=) rs202115752 0.00002
NM_001961.4(EEF2):c.1606-13del rs750823328 0.00002
NM_001961.4(EEF2):c.165C>G (p.Arg55=) rs1448751502 0.00002
NM_001961.4(EEF2):c.1917C>T (p.Tyr639=) rs200515602 0.00002
NM_001961.4(EEF2):c.219-10C>T rs371586634 0.00002
NM_001961.4(EEF2):c.2373C>T (p.Asn791=) rs771632914 0.00002
NM_001961.4(EEF2):c.510G>C (p.Glu170Asp) rs1242828255 0.00002
NM_001961.4(EEF2):c.709G>A (p.Ala237Thr) rs368547225 0.00002
NM_001961.4(EEF2):c.837C>T (p.Ser279=) rs763528172 0.00002
NM_001961.4(EEF2):c.909G>A (p.Ala303=) rs1054443938 0.00002
NM_001961.4(EEF2):c.975C>T (p.Ser325=) rs750876455 0.00002
NM_001961.4(EEF2):c.1012-20A>C rs992506762 0.00001
NM_001961.4(EEF2):c.1107C>T (p.Cys369=) rs773005496 0.00001
NM_001961.4(EEF2):c.1110G>T (p.Glu370Asp) rs373110188 0.00001
NM_001961.4(EEF2):c.1119C>T (p.Tyr373=) rs775743666 0.00001
NM_001961.4(EEF2):c.114C>T (p.Ser38=) rs770735931 0.00001
NM_001961.4(EEF2):c.1150+5G>A rs1185999002 0.00001
NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala) rs762878861 0.00001
NM_001961.4(EEF2):c.1230C>T (p.Phe410=) rs369832575 0.00001
NM_001961.4(EEF2):c.128C>T (p.Ala43Val) rs768918548 0.00001
NM_001961.4(EEF2):c.1293G>A (p.Gly431=) rs745557210 0.00001
NM_001961.4(EEF2):c.1301A>G (p.Tyr434Cys) rs913001998 0.00001
NM_001961.4(EEF2):c.1347-8T>G rs376174565 0.00001
NM_001961.4(EEF2):c.1371C>T (p.Tyr457=) rs764952218 0.00001
NM_001961.4(EEF2):c.1423G>A (p.Val475Met) rs2039725244 0.00001
NM_001961.4(EEF2):c.1446G>A (p.Thr482=) rs748267250 0.00001
NM_001961.4(EEF2):c.1479C>T (p.Asn493=) rs765482573 0.00001
NM_001961.4(EEF2):c.1541C>T (p.Pro514Leu) rs2039723948 0.00001
NM_001961.4(EEF2):c.1605+9G>A rs74793154 0.00001
NM_001961.4(EEF2):c.1638C>T (p.Ile546=) rs763625412 0.00001
NM_001961.4(EEF2):c.1650C>T (p.Gly550=) rs779649274 0.00001
NM_001961.4(EEF2):c.1870G>A (p.Ala624Thr) rs757356247 0.00001
NM_001961.4(EEF2):c.1974C>T (p.Gly658=) rs1414568374 0.00001
NM_001961.4(EEF2):c.2018A>G (p.Asn673Ser) rs144336814 0.00001
NM_001961.4(EEF2):c.2059A>T (p.Thr687Ser) rs751952139 0.00001
NM_001961.4(EEF2):c.2251-7C>G rs763593671 0.00001
NM_001961.4(EEF2):c.2383+8C>T rs1373752390 0.00001
NM_001961.4(EEF2):c.2384-13C>T rs779091070 0.00001
NM_001961.4(EEF2):c.2423C>T (p.Ala808Val) rs2145355068 0.00001
NM_001961.4(EEF2):c.2507C>T (p.Ala836Val) rs764816209 0.00001
NM_001961.4(EEF2):c.2521C>T (p.Arg841Cys) rs1180832473 0.00001
NM_001961.4(EEF2):c.278A>G (p.Lys93Arg) rs922729998 0.00001
NM_001961.4(EEF2):c.27C>T (p.Ile9=) rs2039792485 0.00001
NM_001961.4(EEF2):c.366C>T (p.Thr122=) rs562486328 0.00001
NM_001961.4(EEF2):c.4-4C>T rs1422677364 0.00001
NM_001961.4(EEF2):c.401-7T>G rs773915871 0.00001
NM_001961.4(EEF2):c.637G>T (p.Gly213Cys) rs773181804 0.00001
NM_001961.4(EEF2):c.712G>A (p.Ala238Thr) rs575523824 0.00001
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln) rs769755490 0.00001
NM_001961.4(EEF2):c.766A>G (p.Met256Val) rs1180823908 0.00001
NM_001961.4(EEF2):c.792-9C>T rs763260079 0.00001
NM_001961.4(EEF2):c.801C>T (p.Asp267=) rs781779965 0.00001
NM_001961.4(EEF2):c.840C>T (p.Pro280=) rs756076383 0.00001
NM_001961.4(EEF2):c.874C>T (p.Leu292=) rs768813577 0.00001
NM_001961.4(EEF2):c.892T>G (p.Phe298Val) rs1241109182 0.00001
NM_001961.4(EEF2):c.900G>A (p.Val300=) rs752916969 0.00001
NC_000019.10:g.3980964_3980980del rs2512203124
NC_000019.10:g.3985578C>T rs7251017
NC_000019.9:g.(?_3976552)_(3985378_?)del
NM_001961.4(EEF2):c.-7C>G rs779721890
NM_001961.4(EEF2):c.1001C>T (p.Pro334Leu) rs2039744396
NM_001961.4(EEF2):c.1011+17G>A rs190562397
NM_001961.4(EEF2):c.1011+4C>T rs375407148
NM_001961.4(EEF2):c.1011+6G>T rs2512203711
NM_001961.4(EEF2):c.1012-14C>T rs1341559906
NM_001961.4(EEF2):c.1012-17G>A
NM_001961.4(EEF2):c.1012-18C>T
NM_001961.4(EEF2):c.1012-4G>A rs772203410
NM_001961.4(EEF2):c.1013C>G (p.Ala338Gly)
NM_001961.4(EEF2):c.1018A>G (p.Met340Val) rs2512203158
NM_001961.4(EEF2):c.1032G>A (p.Leu344=)
NM_001961.4(EEF2):c.1038C>G (p.Ala346=) rs757785891
NM_001961.4(EEF2):c.1047C>G (p.Ala349=) rs1260325960
NM_001961.4(EEF2):c.1089G>T (p.Thr363=) rs145638690
NM_001961.4(EEF2):c.1093C>G (p.Gln365Glu) rs2512203037
NM_001961.4(EEF2):c.1131G>A (p.Pro377=) rs746021818
NM_001961.4(EEF2):c.1131G>T (p.Pro377=) rs746021818
NM_001961.4(EEF2):c.1150+13G>A rs541147622
NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys) rs1439827287
NM_001961.4(EEF2):c.1202T>C (p.Met401Thr)
NM_001961.4(EEF2):c.1207C>T (p.Pro403Ser) rs895700162
NM_001961.4(EEF2):c.1223G>T (p.Gly408Val) rs756738121
NM_001961.4(EEF2):c.1251C>A (p.Phe417Leu) rs777339030
NM_001961.4(EEF2):c.1257G>T (p.Gly419=) rs775750783
NM_001961.4(EEF2):c.1287C>T (p.Ile429=)
NM_001961.4(EEF2):c.1304C>T (p.Thr435Ile) rs1379577842
NM_001961.4(EEF2):c.1312AAG[1] (p.Lys439del) rs1195137689
NM_001961.4(EEF2):c.1346+145C>A rs17606942
NM_001961.4(EEF2):c.1346+9C>T rs964668981
NM_001961.4(EEF2):c.1347-11G>A rs2512201901
NM_001961.4(EEF2):c.1347-19C>T rs200161739
NM_001961.4(EEF2):c.1347-20C>T
NM_001961.4(EEF2):c.1350A>G (p.Thr450=) rs755497528
NM_001961.4(EEF2):c.1380C>T (p.Pro460=)
NM_001961.4(EEF2):c.1401dup (p.Asn468fs)
NM_001961.4(EEF2):c.143C>T (p.Ser48Leu) rs1407899802
NM_001961.4(EEF2):c.1440G>C (p.Val480=) rs2512201818
NM_001961.4(EEF2):c.1461C>T (p.Thr487=) rs780521912
NM_001961.4(EEF2):c.1465dup (p.Glu489fs) rs2512201786
NM_001961.4(EEF2):c.1474C>G (p.His492Asp)
NM_001961.4(EEF2):c.1483C>T (p.Arg495Trp)
NM_001961.4(EEF2):c.1538A>T (p.Asn513Ile) rs2145359785
NM_001961.4(EEF2):c.1553C>T (p.Pro518Leu) rs2512201693
NM_001961.4(EEF2):c.1560G>A (p.Leu520=)
NM_001961.4(EEF2):c.156G>T (p.Gly52=)
NM_001961.4(EEF2):c.1591G>A (p.Asp531Asn) rs2145359704
NM_001961.4(EEF2):c.1597A>G (p.Met533Val) rs2512201648
NM_001961.4(EEF2):c.1605+115dup rs201101746
NM_001961.4(EEF2):c.1614C>T (p.Ile538=) rs771347280
NM_001961.4(EEF2):c.1645G>A (p.Ala549Thr)
NM_001961.4(EEF2):c.164G>A (p.Arg55His) rs2512208374
NM_001961.4(EEF2):c.164G>C (p.Arg55Pro)
NM_001961.4(EEF2):c.1713+8G>T rs377320364
NM_001961.4(EEF2):c.1714-11T>G rs2512199947
NM_001961.4(EEF2):c.1714-172T>C rs182115023
NM_001961.4(EEF2):c.1724C>T (p.Pro575Leu)
NM_001961.4(EEF2):c.1738C>T (p.Arg580Cys)
NM_001961.4(EEF2):c.1746G>C (p.Thr582=) rs148878859
NM_001961.4(EEF2):c.1761G>A (p.Ser587=) rs370836485
NM_001961.4(EEF2):c.1765G>A (p.Val589Met) rs35987350
NM_001961.4(EEF2):c.1766T>C (p.Val589Ala) rs2039699854
NM_001961.4(EEF2):c.1784C>T (p.Ser595Phe) rs1555683985
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
NM_001961.4(EEF2):c.1810A>C (p.Met604Leu) rs768970441
NM_001961.4(EEF2):c.1820G>T (p.Arg607Leu) rs149757304
NM_001961.4(EEF2):c.1828C>G (p.Pro610Ala) rs2512199807
NM_001961.4(EEF2):c.1833C>A (p.Asp611Glu) rs375212891
NM_001961.4(EEF2):c.1835G>C (p.Gly612Ala) rs773875633
NM_001961.4(EEF2):c.1859del (p.Gly620fs) rs2512199758
NM_001961.4(EEF2):c.1865T>C (p.Val622Ala) rs2512199747
NM_001961.4(EEF2):c.1868C>T (p.Ser623Phe) rs750648849
NM_001961.4(EEF2):c.1891C>T (p.Arg631Trp)
NM_001961.4(EEF2):c.1896G>A (p.Ala632=) rs373062093
NM_001961.4(EEF2):c.1898G>A (p.Arg633His) rs2512199690
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.1908C>T (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.1940G>A (p.Arg647His) rs867219501
NM_001961.4(EEF2):c.195G>A (p.Glu65=) rs745915723
NM_001961.4(EEF2):c.1962C>T (p.Pro654=) rs112868528
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) rs945307250
NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu) rs1445311018
NM_001961.4(EEF2):c.2010G>A (p.Gln670=)
NM_001961.4(EEF2):c.2025C>A (p.Ile675=) rs2512199549
NM_001961.4(EEF2):c.2068-15C>T rs2039693888
NM_001961.4(EEF2):c.2068-4C>A
NM_001961.4(EEF2):c.2068-5C>A rs1303341926
NM_001961.4(EEF2):c.216A>G (p.Ser72=) rs2512208337
NM_001961.4(EEF2):c.218C>T (p.Thr73Ile) rs2145367250
NM_001961.4(EEF2):c.219-14_219-13delinsTT rs2512207125
NM_001961.4(EEF2):c.219-20C>T
NM_001961.4(EEF2):c.219-2A>G
NM_001961.4(EEF2):c.219-9_219-6del
NM_001961.4(EEF2):c.221C>T (p.Ala74Val)
NM_001961.4(EEF2):c.2251-5G>C rs1400908252
NM_001961.4(EEF2):c.2251-7C>T rs763593671
NM_001961.4(EEF2):c.2277C>G (p.Ile759Met)
NM_001961.4(EEF2):c.2279A>G (p.Tyr760Cys) rs1333450278
NM_001961.4(EEF2):c.228C>T (p.Ser76=)
NM_001961.4(EEF2):c.229C>G (p.Leu77Val) rs2512207087
NM_001961.4(EEF2):c.234C>T (p.Phe78=) rs2512207084
NM_001961.4(EEF2):c.2383+14C>T rs200198271
NM_001961.4(EEF2):c.2383+15G>A
NM_001961.4(EEF2):c.2383+7G>T rs541085914
NM_001961.4(EEF2):c.2384-15C>G rs74724893
NM_001961.4(EEF2):c.2384-9C>T rs754427542
NM_001961.4(EEF2):c.2390C>T (p.Thr797Ile)
NM_001961.4(EEF2):c.2392G>A (p.Ala798Thr)
NM_001961.4(EEF2):c.2432A>G (p.Gln811Arg) rs2512197834
NM_001961.4(EEF2):c.243C>G (p.Leu81=) rs570626608
NM_001961.4(EEF2):c.2441T>G (p.Phe814Cys) rs2512197824
NM_001961.4(EEF2):c.2449T>G (p.Trp817Gly) rs1599189540
NM_001961.4(EEF2):c.2460G>T (p.Leu820=) rs145279867
NM_001961.4(EEF2):c.2475C>A (p.Phe825Leu) rs781600560
NM_001961.4(EEF2):c.2481C>T (p.Asn827=)
NM_001961.4(EEF2):c.2511G>A (p.Glu837=)
NM_001961.4(EEF2):c.2513C>A (p.Thr838Asn)
NM_001961.4(EEF2):c.2522G>A (p.Arg841His)
NM_001961.4(EEF2):c.261C>T (p.Asn87=)
NM_001961.4(EEF2):c.268A>C (p.Lys90Gln) rs1252151598
NM_001961.4(EEF2):c.269A>C (p.Lys90Thr) rs2512206995
NM_001961.4(EEF2):c.272A>G (p.Gln91Arg)
NM_001961.4(EEF2):c.274A>G (p.Ser92Gly) rs2512206989
NM_001961.4(EEF2):c.276C>T (p.Ser92=) rs757363616
NM_001961.4(EEF2):c.295C>T (p.Leu99Phe) rs2512206949
NM_001961.4(EEF2):c.3+134G>T rs560605431
NM_001961.4(EEF2):c.307A>G (p.Ile103Val) rs2512206934
NM_001961.4(EEF2):c.318C>A (p.Pro106=) rs548237711
NM_001961.4(EEF2):c.318C>T (p.Pro106=) rs548237711
NM_001961.4(EEF2):c.327C>G (p.Val109=) rs569177680
NM_001961.4(EEF2):c.327C>T (p.Val109=) rs569177680
NM_001961.4(EEF2):c.328G>A (p.Asp110Asn)
NM_001961.4(EEF2):c.333CTC[1] (p.Ser113del) rs2512206892
NM_001961.4(EEF2):c.33C>T (p.Ala11=) rs755060953
NM_001961.4(EEF2):c.349G>A (p.Ala117Thr) rs2512206875
NM_001961.4(EEF2):c.388G>A (p.Asp130Asn) rs2512206840
NM_001961.4(EEF2):c.399A>C (p.Ser133=)
NM_001961.4(EEF2):c.4-15C>T rs776351683
NM_001961.4(EEF2):c.4-19G>A
NM_001961.4(EEF2):c.4-3C>G rs367708754
NM_001961.4(EEF2):c.4-64C>T rs12975326
NM_001961.4(EEF2):c.401-18_401-14dup rs746088408
NM_001961.4(EEF2):c.405G>A (p.Val135=)
NM_001961.4(EEF2):c.40G>A (p.Asp14Asn)
NM_001961.4(EEF2):c.41A>C (p.Asp14Ala) rs747080912
NM_001961.4(EEF2):c.423A>G (p.Thr141=)
NM_001961.4(EEF2):c.425T>C (p.Val142Ala) rs2512206597
NM_001961.4(EEF2):c.433C>T (p.Gln145Ter) rs2145365556
NM_001961.4(EEF2):c.436G>A (p.Ala146Thr)
NM_001961.4(EEF2):c.437C>G (p.Ala146Gly)
NM_001961.4(EEF2):c.449G>A (p.Arg150His) rs2512206562
NM_001961.4(EEF2):c.460G>T (p.Val154Leu)
NM_001961.4(EEF2):c.462G>T (p.Val154=)
NM_001961.4(EEF2):c.478A>G (p.Met160Val) rs751940798
NM_001961.4(EEF2):c.479T>G (p.Met160Arg) rs2512206522
NM_001961.4(EEF2):c.483C>T (p.Asp161=) rs1599197395
NM_001961.4(EEF2):c.585C>T (p.Gly195=) rs1246304491
NM_001961.4(EEF2):c.590G>A (p.Ser197Asn) rs2512206380
NM_001961.4(EEF2):c.612+12C>T rs756944892
NM_001961.4(EEF2):c.612+4C>G rs768577520
NM_001961.4(EEF2):c.613-17G>T rs560481109
NM_001961.4(EEF2):c.613-20C>G rs529744019
NM_001961.4(EEF2):c.613-20C>T rs529744019
NM_001961.4(EEF2):c.613-4C>G rs933795495
NM_001961.4(EEF2):c.613-4C>T
NM_001961.4(EEF2):c.615C>A (p.Ile205=) rs375130935
NM_001961.4(EEF2):c.623T>C (p.Val208Ala)
NM_001961.4(EEF2):c.647C>T (p.Ser216Phe)
NM_001961.4(EEF2):c.658G>A (p.Gly220Arg) rs2145364443
NM_001961.4(EEF2):c.667T>C (p.Phe223Leu) rs2145364424
NM_001961.4(EEF2):c.687C>T (p.Ala229=)
NM_001961.4(EEF2):c.713C>T (p.Ala238Val) rs2512205302
NM_001961.4(EEF2):c.737C>G (p.Pro246Arg)
NM_001961.4(EEF2):c.771G>A (p.Met257Ile)
NM_001961.4(EEF2):c.787G>C (p.Asp263His) rs1599196364
NM_001961.4(EEF2):c.791+13G>A rs2512205177
NM_001961.4(EEF2):c.791+14_791+15delinsAT rs2512205171
NM_001961.4(EEF2):c.791+6C>T
NM_001961.4(EEF2):c.792-7T>C rs2512204864
NM_001961.4(EEF2):c.795C>T (p.Tyr265=)
NM_001961.4(EEF2):c.802C>T (p.Pro268Ser)
NM_001961.4(EEF2):c.816G>A (p.Lys272=)
NM_001961.4(EEF2):c.838C>T (p.Pro280Ser) rs1001215525
NM_001961.4(EEF2):c.844G>A (p.Gly282Arg) rs2512204744
NM_001961.4(EEF2):c.864C>A (p.Thr288=) rs773552404
NM_001961.4(EEF2):c.866_868del (p.Phe289del)
NM_001961.4(EEF2):c.867C>T (p.Phe289=) rs762033938
NM_001961.4(EEF2):c.86A>C (p.Asp29Ala) rs2145367375
NM_001961.4(EEF2):c.877A>C (p.Ile293Leu) rs2512204678
NM_001961.4(EEF2):c.897+149G>A rs73920319
NM_001961.4(EEF2):c.898-20_898-14del
NM_001961.4(EEF2):c.898-6A>G
NM_001961.4(EEF2):c.898-9G>A rs750227918
NM_001961.4(EEF2):c.905A>T (p.Asp302Val) rs1292653320
NM_001961.4(EEF2):c.936A>G (p.Thr312=)
NM_001961.4(EEF2):c.946A>G (p.Ile316Val)
NM_001961.4(EEF2):c.979G>A (p.Asp327Asn)
NM_001961.4(EEF2):c.981C>G (p.Asp327Glu) rs762204921

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