NM_001013703.4(EIF2AK4):c.4562-8G>T
|
rs2250402
|
0.92552
|
NM_001013703.4(EIF2AK4):c.4174-17G>T
|
rs12916520
|
0.92503
|
NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly)
|
rs2307105
|
0.91697
|
NM_001013703.4(EIF2AK4):c.3408-14G>C
|
rs2279580
|
0.35755
|
NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=)
|
rs3207297
|
0.35044
|
NM_001013703.4(EIF2AK4):c.2249+7G>A
|
rs34298786
|
0.34203
|
NM_001013703.4(EIF2AK4):c.*16G>A
|
rs2898985
|
0.17137
|
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)
|
rs2291627
|
0.14091
|
NM_001013703.4(EIF2AK4):c.*5A>G
|
rs4594236
|
0.12914
|
NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys)
|
rs35602605
|
0.12451
|
NM_001013703.4(EIF2AK4):c.4562-12T>G
|
rs7165452
|
0.01444
|
NM_001013703.4(EIF2AK4):c.2058G>A (p.Pro686=)
|
rs183711630
|
0.00626
|
NM_001013703.4(EIF2AK4):c.1660+12A>T
|
rs55851223
|
0.00580
|
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg)
|
rs35480871
|
0.00518
|
NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser)
|
rs201342617
|
0.00354
|
NM_001013703.4(EIF2AK4):c.3159+12C>A
|
rs2307103
|
0.00245
|
NM_001013703.4(EIF2AK4):c.2320-4T>G
|
rs17848516
|
0.00210
|
NM_001013703.4(EIF2AK4):c.4303-9T>G
|
rs3816898
|
0.00210
|
NM_001013703.4(EIF2AK4):c.2403+12G>A
|
rs17848517
|
0.00209
|
NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His)
|
rs17848491
|
0.00190
|
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=)
|
rs369621429
|
0.00147
|
NM_001013703.4(EIF2AK4):c.2394A>G (p.Leu798=)
|
rs186026165
|
0.00134
|
NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)
|
rs148332808
|
0.00093
|
NM_001013703.4(EIF2AK4):c.3160-8T>C
|
rs200938635
|
0.00093
|
NM_001013703.4(EIF2AK4):c.4851A>G (p.Lys1617=)
|
rs144332775
|
0.00068
|
NM_001013703.4(EIF2AK4):c.744-11T>G
|
rs201918333
|
0.00050
|
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=)
|
rs55727287
|
0.00048
|
NM_001013703.4(EIF2AK4):c.1694T>C (p.Ile565Thr)
|
rs541667530
|
0.00019
|
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=)
|
rs11543185
|
0.00007
|
NM_001013703.4(EIF2AK4):c.257+4A>C
|
rs371276330
|
0.00004
|
NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter)
|
rs587777105
|
0.00003
|
NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu)
|
rs774906916
|
0.00002
|
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter)
|
rs587777207
|
0.00002
|
NM_001013703.4(EIF2AK4):c.1078C>T (p.Arg360Cys)
|
rs750055012
|
0.00001
|
NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg)
|
rs757852728
|
0.00001
|
NM_001013703.4(EIF2AK4):c.2136_2139dup (p.Ser714fs)
|
rs751247185
|
0.00001
|
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=)
|
rs778131744
|
0.00001
|
NM_001013703.4(EIF2AK4):c.3325G>A (p.Gly1109Arg)
|
rs771359303
|
0.00001
|
NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter)
|
rs587777208
|
0.00001
|
NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=)
|
rs1268708595
|
0.00001
|
NM_001013703.4(EIF2AK4):c.4892+12C>T
|
rs371027516
|
0.00001
|
NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter)
|
rs202140402
|
0.00001
|
NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs)
|
rs775819448
|
|
NM_001013703.4(EIF2AK4):c.1159_1160del (p.Leu387fs)
|
rs1595552181
|
|
NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)
|
|
|
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter)
|
rs587777107
|
|
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)
|
rs587777102
|
|
NM_001013703.4(EIF2AK4):c.1424C>T (p.Thr475Met)
|
|
|
NM_001013703.4(EIF2AK4):c.145-2A>G
|
rs1595539403
|
|
NM_001013703.4(EIF2AK4):c.1554-4C>A
|
rs376877634
|
|
NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs)
|
rs1595402535
|
|
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)
|
rs587777106
|
|
NM_001013703.4(EIF2AK4):c.1769T>G (p.Phe590Cys)
|
|
|
NM_001013703.4(EIF2AK4):c.1795G>C (p.Gly599Arg)
|
rs1291600097
|
|
NM_001013703.4(EIF2AK4):c.1820T>G (p.Val607Gly)
|
rs1595403854
|
|
NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=)
|
rs1237677524
|
|
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup)
|
rs377237751
|
|
NM_001013703.4(EIF2AK4):c.2249+15C>A
|
rs367692390
|
|
NM_001013703.4(EIF2AK4):c.2309del (p.Ser770fs)
|
|
|
NM_001013703.4(EIF2AK4):c.2319+1G>A
|
rs1085307441
|
|
NM_001013703.4(EIF2AK4):c.2458C>T (p.Arg820Ter)
|
rs774163084
|
|
NM_001013703.4(EIF2AK4):c.2727C>G (p.Ser909Arg)
|
rs1595414835
|
|
NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs)
|
rs1595541066
|
|
NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs)
|
rs1595418005
|
|
NM_001013703.4(EIF2AK4):c.2857C>T (p.Gln953Ter)
|
rs759101551
|
|
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
|
|
|
NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs)
|
rs767131900
|
|
NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter)
|
rs760842663
|
|
NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=)
|
rs1085307442
|
|
NM_001013703.4(EIF2AK4):c.3244C>T (p.Gln1082Ter)
|
rs1085307443
|
|
NM_001013703.4(EIF2AK4):c.3358-13_3358-10del
|
rs143968955
|
|
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)
|
|
|
NM_001013703.4(EIF2AK4):c.354_355del (p.Cys118fs)
|
rs1085307439
|
|
NM_001013703.4(EIF2AK4):c.3576+1G>T
|
rs756902589
|
|
NM_001013703.4(EIF2AK4):c.3605A>T (p.His1202Leu)
|
rs1159906680
|
|
NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter)
|
rs587777103
|
|
NM_001013703.4(EIF2AK4):c.3884T>G (p.Leu1295Arg)
|
rs1595431276
|
|
NM_001013703.4(EIF2AK4):c.4065+1G>C
|
rs776140816
|
|
NM_001013703.4(EIF2AK4):c.4065+1G>T
|
rs776140816
|
|
NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs)
|
rs1085307444
|
|
NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter)
|
rs1181863323
|
|
NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs)
|
rs1595437286
|
|
NM_001013703.4(EIF2AK4):c.4418_4421del (p.Thr1473fs)
|
rs745339673
|
|
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs)
|
rs1327297003
|
|
NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT
|
rs1085307445
|
|
NM_001013703.4(EIF2AK4):c.4769del (p.Ser1589_Leu1590insTer)
|
rs756315327
|
|
NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2]
|
rs138634589
|
|
NM_001013703.4(EIF2AK4):c.4901_4902del (p.Val1634fs)
|
rs2035596973
|
|
NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs)
|
rs772487425
|
|
NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs)
|
rs587777104
|
|
NM_001013703.4(EIF2AK4):c.744-12T>A
|
|
|
NM_001013703.4(EIF2AK4):c.860-1G>A
|
rs886037661
|
|
NM_001013703.4(EIF2AK4):c.983A>C (p.Gln328Pro)
|
|
|