ClinVar Miner

List of variants in gene EFTUD2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 625
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1963-169A>G rs2277615 0.72062
NM_004247.4(EFTUD2):c.2045+71T>C rs6503405 0.70881
NM_004247.4(EFTUD2):c.995-149T>C rs3785890 0.70817
NM_004247.4(EFTUD2):c.620-133G>A rs2289676 0.68275
NM_004247.4(EFTUD2):c.2562-40A>G rs2289673 0.67453
NM_004247.4(EFTUD2):c.1150-322G>A rs1867287 0.67371
NM_004247.4(EFTUD2):c.619+67T>C rs1443463 0.67292
NM_004247.4(EFTUD2):c.1059-31T>C rs2120276 0.63264
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_004247.4(EFTUD2):c.2046-102T>C rs16971033 0.32968
NM_004247.4(EFTUD2):c.427-98C>T rs1561970 0.26315
NM_004247.4(EFTUD2):c.620-121C>T rs2289675 0.26291
NM_004247.4(EFTUD2):c.1286-318A>G rs8077272 0.26285
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_004247.4(EFTUD2):c.105+215G>A rs9895197 0.26258
NM_004247.4(EFTUD2):c.619+291A>T rs7223598 0.26208
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_004247.4(EFTUD2):c.493-268C>T rs72828807 0.20543
NM_004247.4(EFTUD2):c.272-106G>A rs56908739 0.15445
NM_004247.4(EFTUD2):c.-4-313C>T rs8069039 0.15426
NM_004247.4(EFTUD2):c.2132+42G>A rs2289672 0.14433
NM_004247.4(EFTUD2):c.2562-316T>G rs75199539 0.13892
NM_004247.4(EFTUD2):c.1719+51G>C rs9903106 0.13435
NM_004247.4(EFTUD2):c.2132+93G>A rs8067689 0.12689
NM_004247.4(EFTUD2):c.703-290G>A rs7226037 0.12545
NM_004247.4(EFTUD2):c.1860+168G>A rs6503406 0.12228
NM_004247.4(EFTUD2):c.702+274G>A rs78094864 0.10643
NM_004247.4(EFTUD2):c.619+280A>G rs74807403 0.10609
NM_004247.4(EFTUD2):c.702+126A>G rs17628363 0.09605
NM_004247.4(EFTUD2):c.105+219A>G rs34741258 0.09381
NM_004247.4(EFTUD2):c.1860+102C>T rs72826899 0.09316
NM_004247.4(EFTUD2):c.2466+26C>T rs78620114 0.09193
NM_004247.4(EFTUD2):c.2045+28A>G rs58089352 0.08765
NM_004247.4(EFTUD2):c.1413+245G>A rs75810445 0.06096
NM_004247.4(EFTUD2):c.-4-229C>T rs75707322 0.05728
NM_004247.4(EFTUD2):c.2715+118C>G rs56134215 0.05674
NM_004247.4(EFTUD2):c.493-247A>G rs111343583 0.05287
NM_004247.4(EFTUD2):c.272-91A>G rs75343286 0.04741
NM_004247.4(EFTUD2):c.1607+22G>A rs57404744 0.04494
NM_004247.4(EFTUD2):c.870-54G>A rs8080227 0.04482
NM_004247.4(EFTUD2):c.350+56G>A rs3803870 0.03581
NM_004247.4(EFTUD2):c.869+94G>A rs8081531 0.03035
NM_004247.4(EFTUD2):c.427-62G>A rs2304988 0.03034
NM_004247.4(EFTUD2):c.106-27G>A rs115624297 0.03028
NM_004247.4(EFTUD2):c.2715+18G>C rs117345300 0.02370
NM_004247.4(EFTUD2):c.2561+213A>G rs118150946 0.02127
NM_004247.4(EFTUD2):c.994+238T>A rs73309179 0.01788
NM_004247.4(EFTUD2):c.1861-147del rs144714068 0.01280
NM_004247.4(EFTUD2):c.1860+133G>A rs7208982 0.01112
NM_004247.4(EFTUD2):c.1607+114G>A rs76597601 0.00917
NM_004247.4(EFTUD2):c.1414-14G>T rs58107893 0.00769
NM_004247.4(EFTUD2):c.703-292C>T rs113473506 0.00708
NM_004247.4(EFTUD2):c.1414-203_1414-200del rs555663565 0.00699
NM_004247.4(EFTUD2):c.1963-57G>A rs73984102 0.00695
NM_004247.4(EFTUD2):c.1285+88G>T rs115679112 0.00621
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_004247.4(EFTUD2):c.1720-133C>G rs150520974 0.00535
NM_004247.4(EFTUD2):c.1413+151T>C rs75395366 0.00471
NM_004247.4(EFTUD2):c.2132+95A>G rs116064629 0.00456
NM_004247.4(EFTUD2):c.1414-202del rs67776522 0.00430
NM_004247.4(EFTUD2):c.2260-39C>G rs8065890 0.00422
NM_004247.4(EFTUD2):c.2132+20G>T rs189240355 0.00421
NM_004247.4(EFTUD2):c.2716-234C>T rs150961935 0.00418
NM_004247.4(EFTUD2):c.2823+35C>T rs143974264 0.00259
NM_004247.4(EFTUD2):c.620-21T>G rs200645783 0.00232
NM_004247.4(EFTUD2):c.2260-20G>T rs140987607 0.00174
NM_004247.4(EFTUD2):c.2260-30C>T rs150150975 0.00174
NM_004247.4(EFTUD2):c.1575C>T (p.Cys525=) rs138058362 0.00173
NM_004247.4(EFTUD2):c.1719+19C>T rs144508820 0.00154
NM_004247.4(EFTUD2):c.1149+45C>T rs181053308 0.00138
NM_004247.4(EFTUD2):c.1720-46C>T rs141786231 0.00101
NM_004247.4(EFTUD2):c.350+37G>C rs376006331 0.00099
NM_004247.4(EFTUD2):c.133G>A (p.Val45Ile) rs150335245 0.00089
NM_004247.4(EFTUD2):c.351-42C>T rs200155242 0.00084
NM_004247.4(EFTUD2):c.351-18T>C rs193097454 0.00070
NM_004247.4(EFTUD2):c.1662T>A (p.Gly554=) rs139539083 0.00057
NM_004247.4(EFTUD2):c.1607+24A>G rs141160645 0.00056
NM_004247.4(EFTUD2):c.1608-17A>T rs373063662 0.00051
NM_004247.4(EFTUD2):c.1617C>T (p.Ile539=) rs199999322 0.00051
NM_004247.4(EFTUD2):c.994+7G>A rs374041284 0.00051
NM_004247.4(EFTUD2):c.1143C>T (p.Leu381=) rs144203374 0.00040
NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=) rs187284437 0.00036
NM_004247.4(EFTUD2):c.492+47G>C rs374558197 0.00035
NM_004247.4(EFTUD2):c.984C>T (p.Ala328=) rs117507317 0.00031
NM_004247.4(EFTUD2):c.2132+40G>A rs190738272 0.00029
NM_004247.4(EFTUD2):c.493-45G>C rs200149489 0.00029
NM_004247.4(EFTUD2):c.148G>A (p.Asp50Asn) rs148202258 0.00026
NM_004247.4(EFTUD2):c.2259+31G>A rs371665518 0.00026
NM_004247.4(EFTUD2):c.1275C>A (p.Gly425=) rs146042054 0.00024
NM_004247.4(EFTUD2):c.1059-8C>G rs763827916 0.00023
NM_004247.4(EFTUD2):c.350+43G>C rs202075494 0.00021
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_004247.4(EFTUD2):c.2697T>C (p.Ser899=) rs201138721 0.00019
NM_004247.4(EFTUD2):c.995-18G>A rs543663685 0.00019
NM_004247.4(EFTUD2):c.1363G>A (p.Gly455Ser) rs201465523 0.00017
NM_004247.4(EFTUD2):c.1414-45C>T rs376709374 0.00016
NM_004247.4(EFTUD2):c.2862T>C (p.Asp954=) rs202167305 0.00014
NM_004247.4(EFTUD2):c.1305G>A (p.Val435=) rs369436981 0.00013
NM_004247.4(EFTUD2):c.2631C>T (p.Ala877=) rs150043541 0.00013
NM_004247.4(EFTUD2):c.272-7C>T rs1416700877 0.00013
NM_004247.4(EFTUD2):c.576C>T (p.Asp192=) rs542718177 0.00013
NM_004247.4(EFTUD2):c.1578C>T (p.Thr526=) rs150104145 0.00011
NM_004247.4(EFTUD2):c.2607C>T (p.Tyr869=) rs144166621 0.00011
NM_004247.4(EFTUD2):c.1860+16G>A rs200005781 0.00009
NM_004247.4(EFTUD2):c.2555G>A (p.Arg852Lys) rs776160266 0.00009
NM_004247.4(EFTUD2):c.529-35A>G rs374762480 0.00009
NM_004247.4(EFTUD2):c.1059-34C>T rs566124227 0.00006
NM_004247.4(EFTUD2):c.2042A>G (p.Lys681Arg) rs144798973 0.00006
NM_004247.4(EFTUD2):c.2347+41C>T rs369476889 0.00006
NM_004247.4(EFTUD2):c.1907A>C (p.Tyr636Ser) rs945261338 0.00005
NM_004247.4(EFTUD2):c.1059-20G>A rs771148383 0.00004
NM_004247.4(EFTUD2):c.1212G>A (p.Thr404=) rs200389815 0.00004
NM_004247.4(EFTUD2):c.1285+14C>T rs762384585 0.00004
NM_004247.4(EFTUD2):c.2115C>A (p.Val705=) rs775415787 0.00004
NM_004247.4(EFTUD2):c.2133-21A>G rs759399590 0.00004
NM_004247.4(EFTUD2):c.2823+3A>G rs566188193 0.00004
NM_004247.4(EFTUD2):c.966C>G (p.Ser322=) rs371981882 0.00004
NM_004247.4(EFTUD2):c.126C>T (p.Asp42=) rs751784519 0.00003
NM_004247.4(EFTUD2):c.1962+33G>A rs375672224 0.00003
NM_004247.4(EFTUD2):c.2715+23C>T rs749946969 0.00003
NM_004247.4(EFTUD2):c.493-9T>C rs199645596 0.00003
NM_004247.4(EFTUD2):c.1191C>T (p.Asp397=) rs774593606 0.00002
NM_004247.4(EFTUD2):c.1362C>T (p.Thr454=) rs749284525 0.00002
NM_004247.4(EFTUD2):c.1638T>C (p.Ala546=) rs368432735 0.00002
NM_004247.4(EFTUD2):c.1736C>T (p.Pro579Leu) rs748956109 0.00002
NM_004247.4(EFTUD2):c.1920G>A (p.Val640=) rs770443208 0.00002
NM_004247.4(EFTUD2):c.2407C>T (p.Arg803Trp) rs755484427 0.00002
NM_004247.4(EFTUD2):c.2568C>T (p.His856=) rs139564491 0.00002
NM_004247.4(EFTUD2):c.272-4C>T rs1340355773 0.00002
NM_004247.4(EFTUD2):c.628A>C (p.Asn210His) rs751674101 0.00002
NM_004247.4(EFTUD2):c.1045T>G (p.Phe349Val) rs1170530911 0.00001
NM_004247.4(EFTUD2):c.1089C>T (p.Ser363=) rs765510613 0.00001
NM_004247.4(EFTUD2):c.117T>C (p.Asp39=) rs1277239866 0.00001
NM_004247.4(EFTUD2):c.1199G>T (p.Gly400Val) rs139472306 0.00001
NM_004247.4(EFTUD2):c.129T>C (p.Asp43=) rs2051180942 0.00001
NM_004247.4(EFTUD2):c.1331G>A (p.Gly444Asp) rs753056721 0.00001
NM_004247.4(EFTUD2):c.1344G>A (p.Lys448=) rs142657752 0.00001
NM_004247.4(EFTUD2):c.1377C>T (p.Ser459=) rs781568750 0.00001
NM_004247.4(EFTUD2):c.143A>C (p.His48Pro) rs760084036 0.00001
NM_004247.4(EFTUD2):c.1628G>A (p.Arg543His) rs2050636284 0.00001
NM_004247.4(EFTUD2):c.1678G>A (p.Val560Met) rs746429473 0.00001
NM_004247.4(EFTUD2):c.1862T>G (p.Val621Gly) rs1307795882 0.00001
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004247.4(EFTUD2):c.2628G>A (p.Pro876=) rs1313559869 0.00001
NM_004247.4(EFTUD2):c.290T>C (p.Val97Ala) rs141916105 0.00001
NM_004247.4(EFTUD2):c.360G>A (p.Ala120=) rs775710945 0.00001
NM_004247.4(EFTUD2):c.45A>G (p.Pro15=) rs1337156406 0.00001
NM_004247.4(EFTUD2):c.706A>G (p.Met236Val) rs1131691310 0.00001
NM_004247.4(EFTUD2):c.757G>A (p.Val253Ile) rs1382402264 0.00001
NM_004247.4(EFTUD2):c.870-7G>A rs368523245 0.00001
NM_004247.4(EFTUD2):c.1002T>A (p.Ile334=)
NM_004247.4(EFTUD2):c.1011A>C (p.Gln337His)
NM_004247.4(EFTUD2):c.1020T>C (p.Ala340=)
NM_004247.4(EFTUD2):c.103G>T (p.Glu35Ter) rs1057520674
NM_004247.4(EFTUD2):c.1044dup (p.Phe349fs)
NM_004247.4(EFTUD2):c.105+13T>C
NM_004247.4(EFTUD2):c.105+9A>C
NM_004247.4(EFTUD2):c.1058+113T>A rs2165896
NM_004247.4(EFTUD2):c.1058+15G>A
NM_004247.4(EFTUD2):c.1058+17A>G
NM_004247.4(EFTUD2):c.1058+19G>A
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1058+7dup
NM_004247.4(EFTUD2):c.1058+98dup rs879181467
NM_004247.4(EFTUD2):c.1059-14A>G
NM_004247.4(EFTUD2):c.1059-18A>G
NM_004247.4(EFTUD2):c.1059-20_1059-19del
NM_004247.4(EFTUD2):c.1059-4T>G rs1567739127
NM_004247.4(EFTUD2):c.105G>A (p.Glu35=) rs1555571121
NM_004247.4(EFTUD2):c.106-123A>G rs79951802
NM_004247.4(EFTUD2):c.106-9_106-8delinsCC
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1066T>G (p.Phe356Val) rs1555566527
NM_004247.4(EFTUD2):c.1069A>G (p.Thr357Ala)
NM_004247.4(EFTUD2):c.106A>T (p.Met36Leu)
NM_004247.4(EFTUD2):c.1073A>G (p.Lys358Arg) rs2050778832
NM_004247.4(EFTUD2):c.1079C>T (p.Ala360Val)
NM_004247.4(EFTUD2):c.1084A>G (p.Thr362Ala)
NM_004247.4(EFTUD2):c.1085C>G (p.Thr362Ser)
NM_004247.4(EFTUD2):c.1088G>A (p.Ser363Asn) rs2145487613
NM_004247.4(EFTUD2):c.1091G>A (p.Ser364Asn)
NM_004247.4(EFTUD2):c.1093_1094delinsAA (p.Ser365Asn)
NM_004247.4(EFTUD2):c.1095C>A (p.Ser365=)
NM_004247.4(EFTUD2):c.1096C>T (p.Gln366Ter) rs1057520720
NM_004247.4(EFTUD2):c.1100G>A (p.Arg367Lys)
NM_004247.4(EFTUD2):c.1107C>T (p.Phe369=)
NM_004247.4(EFTUD2):c.1118T>A (p.Ile373Asn)
NM_004247.4(EFTUD2):c.111TGA[2] (p.Asp44del)
NM_004247.4(EFTUD2):c.1127C>G (p.Pro376Arg) rs2145487524
NM_004247.4(EFTUD2):c.1149+1G>A
NM_004247.4(EFTUD2):c.1149+39T>C rs565251155
NM_004247.4(EFTUD2):c.1149+5G>C
NM_004247.4(EFTUD2):c.1150-13del rs886612768
NM_004247.4(EFTUD2):c.1150-1G>T rs2145478542
NM_004247.4(EFTUD2):c.1150-20G>T
NM_004247.4(EFTUD2):c.1150-20_1150-4del rs2145478554
NM_004247.4(EFTUD2):c.1150-2A>G rs2050721026
NM_004247.4(EFTUD2):c.1150-3C>G
NM_004247.4(EFTUD2):c.1150-7C>G
NM_004247.4(EFTUD2):c.1150G>A (p.Val384Ile)
NM_004247.4(EFTUD2):c.1162G>A (p.Val388Met) rs750898301
NM_004247.4(EFTUD2):c.1169C>T (p.Thr390Ile)
NM_004247.4(EFTUD2):c.1173C>A (p.Ser391Arg)
NM_004247.4(EFTUD2):c.1180C>T (p.Arg394Trp)
NM_004247.4(EFTUD2):c.1181G>A (p.Arg394Gln)
NM_004247.4(EFTUD2):c.1188A>C (p.Leu396=)
NM_004247.4(EFTUD2):c.1188A>G (p.Leu396=)
NM_004247.4(EFTUD2):c.1192G>A (p.Glu398Lys)
NM_004247.4(EFTUD2):c.120C>T (p.Asp40=)
NM_004247.4(EFTUD2):c.1211C>T (p.Thr404Met)
NM_004247.4(EFTUD2):c.1216G>C (p.Glu406Gln)
NM_004247.4(EFTUD2):c.121G>A (p.Asp41Asn)
NM_004247.4(EFTUD2):c.1236C>T (p.Ile412=)
NM_004247.4(EFTUD2):c.1238G>A (p.Arg413His)
NM_004247.4(EFTUD2):c.1266G>T (p.Lys422Asn)
NM_004247.4(EFTUD2):c.1274G>A (p.Gly425Asp)
NM_004247.4(EFTUD2):c.1278G>C (p.Glu426Asp)
NM_004247.4(EFTUD2):c.127G>T (p.Asp43Tyr)
NM_004247.4(EFTUD2):c.1284A>G (p.Thr428=) rs2145478150
NM_004247.4(EFTUD2):c.1285+15G>A
NM_004247.4(EFTUD2):c.1285+15G>C
NM_004247.4(EFTUD2):c.1285+17G>C
NM_004247.4(EFTUD2):c.1285+6_1285+8del
NM_004247.4(EFTUD2):c.1286-10C>G
NM_004247.4(EFTUD2):c.1286-9C>T
NM_004247.4(EFTUD2):c.1315C>T (p.Pro439Ser)
NM_004247.4(EFTUD2):c.1328T>G (p.Val443Gly)
NM_004247.4(EFTUD2):c.1347T>A (p.Ile449=)
NM_004247.4(EFTUD2):c.1355C>T (p.Thr452Ile)
NM_004247.4(EFTUD2):c.1361C>T (p.Thr454Ile)
NM_004247.4(EFTUD2):c.1376C>G (p.Ser459Cys) rs377238998
NM_004247.4(EFTUD2):c.1383C>T (p.Leu461=)
NM_004247.4(EFTUD2):c.1384G>A (p.Gly462Ser)
NM_004247.4(EFTUD2):c.1387G>A (p.Glu463Lys) rs2145473721
NM_004247.4(EFTUD2):c.1394dup (p.Met465fs)
NM_004247.4(EFTUD2):c.1396A>C (p.Ser466Arg)
NM_004247.4(EFTUD2):c.1397G>A (p.Ser466Asn)
NM_004247.4(EFTUD2):c.1402dup (p.Cys468fs) rs2145473620
NM_004247.4(EFTUD2):c.1403G>A (p.Cys468Tyr)
NM_004247.4(EFTUD2):c.1410T>G (p.Pro470=)
NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val)
NM_004247.4(EFTUD2):c.1413+17C>T
NM_004247.4(EFTUD2):c.1413+18C>G
NM_004247.4(EFTUD2):c.1413+7G>T
NM_004247.4(EFTUD2):c.1413T>G (p.Asp471Glu)
NM_004247.4(EFTUD2):c.1414-199_1414-197del rs67944828
NM_004247.4(EFTUD2):c.1414-203del rs35450462
NM_004247.4(EFTUD2):c.1414-245G>T rs8067592
NM_004247.4(EFTUD2):c.1414-3C>T
NM_004247.4(EFTUD2):c.1414-4C>T
NM_004247.4(EFTUD2):c.1414-5T>A
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
NM_004247.4(EFTUD2):c.1423A>G (p.Met475Val)
NM_004247.4(EFTUD2):c.1432A>G (p.Thr478Ala)
NM_004247.4(EFTUD2):c.1435A>G (p.Thr479Ala)
NM_004247.4(EFTUD2):c.1447A>G (p.Ser483Gly) rs1597797872
NM_004247.4(EFTUD2):c.1466A>G (p.Gln489Arg)
NM_004247.4(EFTUD2):c.1473C>T (p.His491=)
NM_004247.4(EFTUD2):c.1476C>A (p.Ala492=)
NM_004247.4(EFTUD2):c.1481G>A (p.Gly494Asp)
NM_004247.4(EFTUD2):c.1484G>A (p.Arg495Gln)
NM_004247.4(EFTUD2):c.1487T>A (p.Val496Glu)
NM_004247.4(EFTUD2):c.1492A>T (p.Ser498Cys)
NM_004247.4(EFTUD2):c.149A>G (p.Asp50Gly)
NM_004247.4(EFTUD2):c.1513C>T (p.Gln505Ter)
NM_004247.4(EFTUD2):c.1521G>A (p.Val507=)
NM_004247.4(EFTUD2):c.1527A>T (p.Val509=)
NM_004247.4(EFTUD2):c.1536G>A (p.Glu512=)
NM_004247.4(EFTUD2):c.1541A>G (p.Tyr514Cys) rs2145470228
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) rs749855263
NM_004247.4(EFTUD2):c.1554T>C (p.Asp518=)
NM_004247.4(EFTUD2):c.1557G>A (p.Glu519=)
NM_004247.4(EFTUD2):c.1570A>G (p.Ile524Val) rs1555565772
NM_004247.4(EFTUD2):c.157C>T (p.Pro53Ser)
NM_004247.4(EFTUD2):c.1587C>T (p.Arg529=)
NM_004247.4(EFTUD2):c.158C>A (p.Pro53His)
NM_004247.4(EFTUD2):c.158C>G (p.Pro53Arg)
NM_004247.4(EFTUD2):c.158del (p.Pro53fs) rs2145558864
NM_004247.4(EFTUD2):c.1595T>G (p.Ile532Ser)
NM_004247.4(EFTUD2):c.15A>T (p.Leu5Phe)
NM_004247.4(EFTUD2):c.1607+11C>T
NM_004247.4(EFTUD2):c.1607+16G>A
NM_004247.4(EFTUD2):c.1607+1G>T rs2145469974
NM_004247.4(EFTUD2):c.1607+259del rs550554657
NM_004247.4(EFTUD2):c.1607+4C>T
NM_004247.4(EFTUD2):c.1608-15T>C
NM_004247.4(EFTUD2):c.1608-16T>G rs2145461377
NM_004247.4(EFTUD2):c.1608-53del rs34404174
NM_004247.4(EFTUD2):c.1608-54_1608-53del rs34404174
NM_004247.4(EFTUD2):c.1608-56_1608-53del rs34404174
NM_004247.4(EFTUD2):c.1608-74_1608-73dup rs34404174
NM_004247.4(EFTUD2):c.1608-74dup rs34404174
NM_004247.4(EFTUD2):c.1608-7G>T rs2050636705
NM_004247.4(EFTUD2):c.1608-9T>C
NM_004247.4(EFTUD2):c.1608G>A (p.Arg536=)
NM_004247.4(EFTUD2):c.1611C>T (p.Tyr537=) rs973192377
NM_004247.4(EFTUD2):c.1623G>A (p.Val541=)
NM_004247.4(EFTUD2):c.1626C>T (p.Asn542=)
NM_004247.4(EFTUD2):c.163A>T (p.Met55Leu)
NM_004247.4(EFTUD2):c.1641dup (p.Asn548fs) rs1597795664
NM_004247.4(EFTUD2):c.1643A>C (p.Asn548Thr)
NM_004247.4(EFTUD2):c.1643A>G (p.Asn548Ser)
NM_004247.4(EFTUD2):c.1648G>A (p.Val550Ile) rs1131691840
NM_004247.4(EFTUD2):c.1651C>A (p.Leu551Met)
NM_004247.4(EFTUD2):c.1669C>T (p.Gln557Ter) rs886041831
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
NM_004247.4(EFTUD2):c.1719+15G>A
NM_004247.4(EFTUD2):c.1719+3A>G
NM_004247.4(EFTUD2):c.1720-20C>T
NM_004247.4(EFTUD2):c.1720-3C>G
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.1733G>A (p.Arg578Gln)
NM_004247.4(EFTUD2):c.1746C>G (p.Phe582Leu)
NM_004247.4(EFTUD2):c.1748A>G (p.Asn583Ser)
NM_004247.4(EFTUD2):c.1752C>A (p.Thr584=)
NM_004247.4(EFTUD2):c.1771G>A (p.Ala591Thr)
NM_004247.4(EFTUD2):c.1773T>C (p.Ala591=)
NM_004247.4(EFTUD2):c.1787A>G (p.Asn596Ser)
NM_004247.4(EFTUD2):c.178C>A (p.His60Asn)
NM_004247.4(EFTUD2):c.1791C>G (p.Pro597=)
NM_004247.4(EFTUD2):c.1810C>T (p.Leu604Phe)
NM_004247.4(EFTUD2):c.1820T>C (p.Leu607Pro)
NM_004247.4(EFTUD2):c.1829T>A (p.Val610Asp)
NM_004247.4(EFTUD2):c.1849C>G (p.Leu617Val) rs1555565353
NM_004247.4(EFTUD2):c.1860+1G>A
NM_004247.4(EFTUD2):c.1860+228_1860+230del rs147490132
NM_004247.4(EFTUD2):c.1860+244TG[11] rs139421777
NM_004247.4(EFTUD2):c.1860+244TG[13] rs139421777
NM_004247.4(EFTUD2):c.1860+244TG[14] rs139421777
NM_004247.4(EFTUD2):c.1860+2del rs886039467
NM_004247.4(EFTUD2):c.1860+3A>G
NM_004247.4(EFTUD2):c.1860+6C>G
NM_004247.4(EFTUD2):c.1861-12G>A
NM_004247.4(EFTUD2):c.1861-14C>T
NM_004247.4(EFTUD2):c.1868A>G (p.Glu623Gly)
NM_004247.4(EFTUD2):c.1875C>T (p.Gly625=)
NM_004247.4(EFTUD2):c.1888del (p.Leu630fs)
NM_004247.4(EFTUD2):c.188A>G (p.Lys63Arg)
NM_004247.4(EFTUD2):c.1891G>C (p.Gly631Arg)
NM_004247.4(EFTUD2):c.1897G>A (p.Gly633Arg) rs1131691511
NM_004247.4(EFTUD2):c.1901_1902insAA (p.Leu635fs) rs1555565162
NM_004247.4(EFTUD2):c.1920_1923dup (p.His642fs) rs2145455397
NM_004247.4(EFTUD2):c.1927G>A (p.Asp643Asn) rs2145455386
NM_004247.4(EFTUD2):c.195C>T (p.Tyr65=)
NM_004247.4(EFTUD2):c.1962+17C>T
NM_004247.4(EFTUD2):c.1962+18G>A
NM_004247.4(EFTUD2):c.1962+1G>A rs1256541161
NM_004247.4(EFTUD2):c.1962+4C>G
NM_004247.4(EFTUD2):c.1963-1G>T rs765835040
NM_004247.4(EFTUD2):c.1963G>T (p.Val655Leu) rs760199934
NM_004247.4(EFTUD2):c.1971C>T (p.Asp657=)
NM_004247.4(EFTUD2):c.1972C>T (p.Pro658Ser)
NM_004247.4(EFTUD2):c.1974A>G (p.Pro658=)
NM_004247.4(EFTUD2):c.1980C>T (p.Val660=)
NM_004247.4(EFTUD2):c.1982C>G (p.Thr661Arg)
NM_004247.4(EFTUD2):c.1982del (p.Thr661fs)
NM_004247.4(EFTUD2):c.1983G>A (p.Thr661=)
NM_004247.4(EFTUD2):c.1995G>A (p.Thr665=)
NM_004247.4(EFTUD2):c.1998G>A (p.Val666=)
NM_004247.4(EFTUD2):c.2002G>A (p.Glu668Lys) rs2145447931
NM_004247.4(EFTUD2):c.2007A>G (p.Thr669=)
NM_004247.4(EFTUD2):c.2016C>T (p.Leu672=)
NM_004247.4(EFTUD2):c.2019G>A (p.Lys673=)
NM_004247.4(EFTUD2):c.202A>G (p.Thr68Ala)
NM_004247.4(EFTUD2):c.2034G>A (p.Thr678=)
NM_004247.4(EFTUD2):c.2039A>G (p.Asn680Ser)
NM_004247.4(EFTUD2):c.2045+19G>A
NM_004247.4(EFTUD2):c.2045+1G>A
NM_004247.4(EFTUD2):c.2046-18C>T
NM_004247.4(EFTUD2):c.2046-20C>A
NM_004247.4(EFTUD2):c.2055C>T (p.Ile685=)
NM_004247.4(EFTUD2):c.2059A>G (p.Met687Val)
NM_004247.4(EFTUD2):c.205G>T (p.Ala69Ser)
NM_004247.4(EFTUD2):c.2067T>C (p.Ala689=)
NM_004247.4(EFTUD2):c.2082G>A (p.Lys694=)
NM_004247.4(EFTUD2):c.2088G>T (p.Leu696=)
NM_004247.4(EFTUD2):c.208G>A (p.Glu70Lys)
NM_004247.4(EFTUD2):c.2106T>C (p.Asn702=)
NM_004247.4(EFTUD2):c.210G>A (p.Glu70=)
NM_004247.4(EFTUD2):c.2110G>T (p.Val704Leu)
NM_004247.4(EFTUD2):c.2125T>G (p.Trp709Gly)
NM_004247.4(EFTUD2):c.2130C>T (p.Asn710=)
NM_004247.4(EFTUD2):c.2132+19C>T
NM_004247.4(EFTUD2):c.2132+20G>A
NM_004247.4(EFTUD2):c.2132+20G>C
NM_004247.4(EFTUD2):c.2133-1G>T
NM_004247.4(EFTUD2):c.2133-20T>C
NM_004247.4(EFTUD2):c.2133-4C>T
NM_004247.4(EFTUD2):c.2133-5C>G
NM_004247.4(EFTUD2):c.2133-9C>T
NM_004247.4(EFTUD2):c.213G>A (p.Glu71=)
NM_004247.4(EFTUD2):c.2145A>T (p.Gly715=)
NM_004247.4(EFTUD2):c.216G>A (p.Val72=)
NM_004247.4(EFTUD2):c.2172G>T (p.Trp724Cys)
NM_004247.4(EFTUD2):c.2184T>C (p.Ala728=) rs1348999466
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) rs2145438293
NM_004247.4(EFTUD2):c.2208C>G (p.Gly736=)
NM_004247.4(EFTUD2):c.2217G>A (p.Ala739=) rs371614000
NM_004247.4(EFTUD2):c.2218A>T (p.Thr740Ser) rs1597789521
NM_004247.4(EFTUD2):c.2226del (p.Asn743fs)
NM_004247.4(EFTUD2):c.2229C>T (p.Asn743=)
NM_004247.4(EFTUD2):c.2236G>A (p.Val746Met)
NM_004247.4(EFTUD2):c.2260-10T>C
NM_004247.4(EFTUD2):c.2260-17C>T
NM_004247.4(EFTUD2):c.2260-4A>G
NM_004247.4(EFTUD2):c.2260-5T>C
NM_004247.4(EFTUD2):c.2260-63_2260-61del rs148466922
NM_004247.4(EFTUD2):c.2260-9T>A
NM_004247.4(EFTUD2):c.2262G>A (p.Val754=)
NM_004247.4(EFTUD2):c.2263G>A (p.Asp755Asn)
NM_004247.4(EFTUD2):c.2298C>T (p.Ile766=)
NM_004247.4(EFTUD2):c.2299G>A (p.Val767Ile)
NM_004247.4(EFTUD2):c.2302C>G (p.Gln768Glu)
NM_004247.4(EFTUD2):c.2330G>T (p.Gly777Val)
NM_004247.4(EFTUD2):c.2333C>A (p.Pro778His) rs1064796381
NM_004247.4(EFTUD2):c.2336T>G (p.Leu779Arg)
NM_004247.4(EFTUD2):c.2337C>G (p.Leu779=)
NM_004247.4(EFTUD2):c.2347+1G>T rs1057524588
NM_004247.4(EFTUD2):c.2347+20C>T
NM_004247.4(EFTUD2):c.2348-14C>T
NM_004247.4(EFTUD2):c.2348-19C>T
NM_004247.4(EFTUD2):c.2364G>A (p.Lys788=)
NM_004247.4(EFTUD2):c.2381C>T (p.Ala794Val)
NM_004247.4(EFTUD2):c.2390C>A (p.Ala797Asp)
NM_004247.4(EFTUD2):c.2398C>T (p.Pro800Ser)
NM_004247.4(EFTUD2):c.2412C>G (p.Gly804=)
NM_004247.4(EFTUD2):c.2418C>T (p.Gly806=)
NM_004247.4(EFTUD2):c.2422A>G (p.Ile808Val)
NM_004247.4(EFTUD2):c.2426T>C (p.Ile809Thr) rs2145434884
NM_004247.4(EFTUD2):c.2427C>T (p.Ile809=)
NM_004247.4(EFTUD2):c.2445C>T (p.Val815=)
NM_004247.4(EFTUD2):c.2446G>A (p.Val816Ile)
NM_004247.4(EFTUD2):c.2466+13G>A
NM_004247.4(EFTUD2):c.2466+15C>T
NM_004247.4(EFTUD2):c.2466+1G>A rs1064796893
NM_004247.4(EFTUD2):c.2466+8A>G
NM_004247.4(EFTUD2):c.2466+9A>G
NM_004247.4(EFTUD2):c.2467-12G>C
NM_004247.4(EFTUD2):c.2467-17T>G rs2145434386
NM_004247.4(EFTUD2):c.2467-4G>T
NM_004247.4(EFTUD2):c.2477G>A (p.Arg826His) rs2145434319
NM_004247.4(EFTUD2):c.2515C>T (p.Pro839Ser)
NM_004247.4(EFTUD2):c.2526C>T (p.Cys842=)
NM_004247.4(EFTUD2):c.2544C>T (p.Thr848=)
NM_004247.4(EFTUD2):c.2544del (p.Val849fs) rs1597788212
NM_004247.4(EFTUD2):c.2545G>A (p.Val849Ile)
NM_004247.4(EFTUD2):c.2561+13A>T
NM_004247.4(EFTUD2):c.2561+17G>A
NM_004247.4(EFTUD2):c.2561+7G>A
NM_004247.4(EFTUD2):c.2561+9C>T
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.2562-2_2562del
NM_004247.4(EFTUD2):c.2562-2del rs2145431661
NM_004247.4(EFTUD2):c.2562-55C>A rs73984100
NM_004247.4(EFTUD2):c.2591C>T (p.Pro864Leu)
NM_004247.4(EFTUD2):c.2594G>A (p.Gly865Asp)
NM_004247.4(EFTUD2):c.2598C>T (p.Ser866=)
NM_004247.4(EFTUD2):c.2609C>A (p.Thr870Asn)
NM_004247.4(EFTUD2):c.2624del (p.Ile875fs) rs2145431524
NM_004247.4(EFTUD2):c.2627C>T (p.Pro876Leu) rs2145431518
NM_004247.4(EFTUD2):c.2630C>G (p.Ala877Gly)
NM_004247.4(EFTUD2):c.2634C>T (p.Ile878=)
NM_004247.4(EFTUD2):c.2637C>G (p.Asp879Glu)
NM_004247.4(EFTUD2):c.2645G>T (p.Gly882Val) rs2145431448
NM_004247.4(EFTUD2):c.2650G>A (p.Glu884Lys)
NM_004247.4(EFTUD2):c.2662C>T (p.Arg888Trp)
NM_004247.4(EFTUD2):c.2664G>A (p.Arg888=)
NM_004247.4(EFTUD2):c.2673C>G (p.Thr891=)
NM_004247.4(EFTUD2):c.2674del (p.Gln892fs) rs1555563981
NM_004247.4(EFTUD2):c.2687T>C (p.Phe896Ser)
NM_004247.4(EFTUD2):c.2688_2689dup (p.Ser897fs)
NM_004247.4(EFTUD2):c.2689_2693del (p.Ser897fs) rs2050472602
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) rs886039349
NM_004247.4(EFTUD2):c.271+17T>C
NM_004247.4(EFTUD2):c.271+19G>A
NM_004247.4(EFTUD2):c.271+3A>G rs1064793395
NM_004247.4(EFTUD2):c.271+7C>T
NM_004247.4(EFTUD2):c.2715+7A>G
NM_004247.4(EFTUD2):c.2716-8C>G
NM_004247.4(EFTUD2):c.272-10T>C
NM_004247.4(EFTUD2):c.272-20A>G
NM_004247.4(EFTUD2):c.272-4C>G
NM_004247.4(EFTUD2):c.272-8T>C
NM_004247.4(EFTUD2):c.272-8del rs557631650
NM_004247.4(EFTUD2):c.272-8dup rs557631650
NM_004247.4(EFTUD2):c.2724T>C (p.Pro908=)
NM_004247.4(EFTUD2):c.2727T>C (p.Gly909=)
NM_004247.4(EFTUD2):c.2731C>T (p.Pro911Ser)
NM_004247.4(EFTUD2):c.2752_2755dup (p.Arg919fs) rs2145429029
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2784C>T (p.His928=)
NM_004247.4(EFTUD2):c.2800A>G (p.Met934Val)
NM_004247.4(EFTUD2):c.2805C>A (p.Ile935=)
NM_004247.4(EFTUD2):c.2805C>G (p.Ile935Met)
NM_004247.4(EFTUD2):c.2805C>T (p.Ile935=)
NM_004247.4(EFTUD2):c.2809A>G (p.Thr937Ala)
NM_004247.4(EFTUD2):c.2813G>A (p.Arg938His)
NM_004247.4(EFTUD2):c.2816G>A (p.Arg939His)
NM_004247.4(EFTUD2):c.2823+10C>A
NM_004247.4(EFTUD2):c.2823+12T>C
NM_004247.4(EFTUD2):c.2823+16G>A
NM_004247.4(EFTUD2):c.2823+18C>T
NM_004247.4(EFTUD2):c.2823+7_2823+8insTCA
NM_004247.4(EFTUD2):c.2824-12C>G
NM_004247.4(EFTUD2):c.2859C>T (p.Phe953=)
NM_004247.4(EFTUD2):c.287C>T (p.Pro96Leu)
NM_004247.4(EFTUD2):c.2906A>G (p.Asn969Ser)
NM_004247.4(EFTUD2):c.2918G>C (p.Ter973Ser)
NM_004247.4(EFTUD2):c.291_292insT (p.Lys98Ter) rs2051147818
NM_004247.4(EFTUD2):c.312G>A (p.Leu104=)
NM_004247.4(EFTUD2):c.322A>G (p.Thr108Ala) rs2051147288
NM_004247.4(EFTUD2):c.339G>A (p.Val113=)
NM_004247.4(EFTUD2):c.342T>G (p.Tyr114Ter)
NM_004247.4(EFTUD2):c.350+5G>A
NM_004247.4(EFTUD2):c.351-1G>T
NM_004247.4(EFTUD2):c.351-22_351-18del
NM_004247.4(EFTUD2):c.351-3C>G
NM_004247.4(EFTUD2):c.359C>G (p.Ala120Gly)
NM_004247.4(EFTUD2):c.367A>G (p.Met123Val)
NM_004247.4(EFTUD2):c.36T>C (p.Tyr12=) rs2051341403
NM_004247.4(EFTUD2):c.373A>G (p.Asn125Asp)
NM_004247.4(EFTUD2):c.382C>T (p.Leu128Phe)
NM_004247.4(EFTUD2):c.387C>T (p.Ile129=)
NM_004247.4(EFTUD2):c.407G>T (p.Gly136Val)
NM_004247.4(EFTUD2):c.421G>A (p.Gly141Ser)
NM_004247.4(EFTUD2):c.422G>A (p.Gly141Asp) rs1057522002
NM_004247.4(EFTUD2):c.427-30G>A rs150415160
NM_004247.4(EFTUD2):c.427-3T>G
NM_004247.4(EFTUD2):c.427-9C>T
NM_004247.4(EFTUD2):c.427del (p.Thr143fs) rs2051103531
NM_004247.4(EFTUD2):c.450T>G (p.Ile150Met)
NM_004247.4(EFTUD2):c.465G>A (p.Pro155=)
NM_004247.4(EFTUD2):c.479G>A (p.Arg160His)
NM_004247.4(EFTUD2):c.48G>C (p.Glu16Asp)
NM_004247.4(EFTUD2):c.492+12T>C
NM_004247.4(EFTUD2):c.492+16G>A
NM_004247.4(EFTUD2):c.493-12dup
NM_004247.4(EFTUD2):c.493-17A>G
NM_004247.4(EFTUD2):c.502A>G (p.Thr168Ala)
NM_004247.4(EFTUD2):c.523C>T (p.Gln175Ter) rs1555569283
NM_004247.4(EFTUD2):c.528+11C>T
NM_004247.4(EFTUD2):c.528+17del
NM_004247.4(EFTUD2):c.528+255_528+257del rs3217522
NM_004247.4(EFTUD2):c.529-11G>C rs776087937
NM_004247.4(EFTUD2):c.529-15_529-14del
NM_004247.4(EFTUD2):c.539G>T (p.Gly180Val) rs1555569127
NM_004247.4(EFTUD2):c.551C>T (p.Thr184Ile)
NM_004247.4(EFTUD2):c.561A>G (p.Thr187=)
NM_004247.4(EFTUD2):c.56C>T (p.Ser19Phe) rs974332362
NM_004247.4(EFTUD2):c.570G>A (p.Leu190=)
NM_004247.4(EFTUD2):c.575A>G (p.Asp192Gly)
NM_004247.4(EFTUD2):c.579C>G (p.Thr193=)
NM_004247.4(EFTUD2):c.579del (p.Gly195fs) rs1064797069
NM_004247.4(EFTUD2):c.619+6A>T
NM_004247.4(EFTUD2):c.620-128G>A rs111955421
NM_004247.4(EFTUD2):c.621A>T (p.Gly207=)
NM_004247.4(EFTUD2):c.622C>T (p.His208Tyr) rs2145532868
NM_004247.4(EFTUD2):c.623_624del (p.His208fs)
NM_004247.4(EFTUD2):c.624T>C (p.His208=)
NM_004247.4(EFTUD2):c.627G>A (p.Val209=)
NM_004247.4(EFTUD2):c.633C>A (p.Phe211Leu) rs2145532803
NM_004247.4(EFTUD2):c.634T>C (p.Ser212Pro)
NM_004247.4(EFTUD2):c.635C>G (p.Ser212Cys)
NM_004247.4(EFTUD2):c.643G>C (p.Val215Leu)
NM_004247.4(EFTUD2):c.643G>T (p.Val215Phe)
NM_004247.4(EFTUD2):c.650C>G (p.Ala217Gly)
NM_004247.4(EFTUD2):c.658C>A (p.Arg220Ser)
NM_004247.4(EFTUD2):c.659G>A (p.Arg220His)
NM_004247.4(EFTUD2):c.664T>G (p.Ser222Ala) rs2145532570
NM_004247.4(EFTUD2):c.671G>T (p.Gly224Val)
NM_004247.4(EFTUD2):c.67G>A (p.Asp23Asn)
NM_004247.4(EFTUD2):c.686T>C (p.Ile229Thr) rs1408054257
NM_004247.4(EFTUD2):c.699G>A (p.Glu233=)
NM_004247.4(EFTUD2):c.702+1G>T rs1085307457
NM_004247.4(EFTUD2):c.702+1del rs2145532417
NM_004247.4(EFTUD2):c.702+8A>G
NM_004247.4(EFTUD2):c.703-20C>G
NM_004247.4(EFTUD2):c.703-2A>G rs2145517131
NM_004247.4(EFTUD2):c.703-5C>G
NM_004247.4(EFTUD2):c.70G>A (p.Asp24Asn)
NM_004247.4(EFTUD2):c.715A>G (p.Thr239Ala)
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)
NM_004247.4(EFTUD2):c.731A>C (p.Lys244Thr)
NM_004247.4(EFTUD2):c.742C>T (p.Gln248Ter) rs2050942396
NM_004247.4(EFTUD2):c.763G>A (p.Val255Met)
NM_004247.4(EFTUD2):c.769A>G (p.Ile257Val) rs369010652
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.801G>A (p.Leu267=)
NM_004247.4(EFTUD2):c.814A>G (p.Thr272Ala)
NM_004247.4(EFTUD2):c.819T>C (p.Asp273=)
NM_004247.4(EFTUD2):c.854T>C (p.Val285Ala) rs758438398
NM_004247.4(EFTUD2):c.857A>G (p.Asn286Ser) rs2145516424
NM_004247.4(EFTUD2):c.869+10C>T
NM_004247.4(EFTUD2):c.869+13T>A
NM_004247.4(EFTUD2):c.869+17A>C
NM_004247.4(EFTUD2):c.870-10T>G
NM_004247.4(EFTUD2):c.870-11CT[3] rs761538887
NM_004247.4(EFTUD2):c.870-179G>C rs17545736
NM_004247.4(EFTUD2):c.870-20C>T
NM_004247.4(EFTUD2):c.870-7G>C
NM_004247.4(EFTUD2):c.872T>C (p.Met291Thr)
NM_004247.4(EFTUD2):c.884A>T (p.Asp295Val)
NM_004247.4(EFTUD2):c.894G>C (p.Leu298=)
NM_004247.4(EFTUD2):c.895A>G (p.Ile299Val)
NM_004247.4(EFTUD2):c.913G>A (p.Gly305Ser)
NM_004247.4(EFTUD2):c.918C>T (p.Asn306=)
NM_004247.4(EFTUD2):c.919G>A (p.Val307Ile)
NM_004247.4(EFTUD2):c.921C>G (p.Val307=) rs917594421
NM_004247.4(EFTUD2):c.936C>A (p.Ser312=)
NM_004247.4(EFTUD2):c.941A>G (p.Tyr314Cys)
NM_004247.4(EFTUD2):c.943A>C (p.Ser315Arg)
NM_004247.4(EFTUD2):c.949T>C (p.Cys317Arg)
NM_004247.4(EFTUD2):c.952T>C (p.Phe318Leu)
NM_004247.4(EFTUD2):c.954C>T (p.Phe318=)
NM_004247.4(EFTUD2):c.956C>T (p.Thr319Met)
NM_004247.4(EFTUD2):c.957G>A (p.Thr319=)
NM_004247.4(EFTUD2):c.963C>T (p.Gly321=)
NM_004247.4(EFTUD2):c.978C>T (p.Ile326=)
NM_004247.4(EFTUD2):c.987C>A (p.Asp329Glu)
NM_004247.4(EFTUD2):c.994+11G>A
NM_004247.4(EFTUD2):c.994+15G>A
NM_004247.4(EFTUD2):c.994+9T>C
NM_004247.4(EFTUD2):c.995-7C>T
Single allele

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