NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser)
|
rs1805165
|
0.76783
|
NM_004836.6(EIF2AK3):c.*1007C>G
|
rs33957402
|
0.29006
|
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=)
|
rs10208681
|
0.00543
|
NM_004836.7(EIF2AK3):c.*635G>A
|
rs180734302
|
0.00131
|
NM_004836.7(EIF2AK3):c.*363_*364del
|
rs533135276
|
0.00041
|
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=)
|
rs56094918
|
0.00039
|
NM_004836.7(EIF2AK3):c.*271T>G
|
rs886056414
|
0.00013
|
NM_004836.7(EIF2AK3):c.*360C>T
|
rs551581209
|
0.00012
|
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His)
|
rs777171158
|
0.00012
|
NM_004836.7(EIF2AK3):c.*356A>G
|
rs974625421
|
0.00011
|
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser)
|
rs148953825
|
0.00010
|
NM_004836.7(EIF2AK3):c.*99C>T
|
rs771892864
|
0.00006
|
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr)
|
rs947040918
|
0.00004
|
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val)
|
rs778904290
|
0.00004
|
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr)
|
rs201662849
|
0.00002
|
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr)
|
rs751296708
|
0.00002
|
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile)
|
rs200270016
|
0.00002
|
NM_004836.7(EIF2AK3):c.*712C>T
|
rs1415152930
|
0.00001
|
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)
|
rs771612567
|
0.00001
|
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=)
|
rs747687191
|
0.00001
|
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His)
|
rs780592115
|
0.00001
|
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala)
|
rs781754103
|
0.00001
|
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu)
|
rs374540128
|
0.00001
|
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)
|
rs1178109063
|
0.00001
|
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg)
|
rs752726105
|
0.00001
|
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val)
|
rs759906972
|
0.00001
|
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr)
|
rs766524866
|
0.00001
|
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn)
|
rs762080456
|
0.00001
|
NM_004836.7(EIF2AK3):c.*104A>C
|
rs1474906844
|
|
NM_004836.7(EIF2AK3):c.*175A>T
|
rs886056415
|
|
NM_004836.7(EIF2AK3):c.*286G>C
|
rs886056413
|
|
NM_004836.7(EIF2AK3):c.*300TA[7]
|
rs767645334
|
|
NM_004836.7(EIF2AK3):c.*340A>G
|
rs1376568962
|
|
NM_004836.7(EIF2AK3):c.*408T>G
|
rs148457589
|
|
NM_004836.7(EIF2AK3):c.*459G>T
|
rs886056412
|
|
NM_004836.7(EIF2AK3):c.*864ATGTTT[1]
|
rs565147927
|
|
NM_004836.7(EIF2AK3):c.*894AATC[1]
|
rs886056411
|
|
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser)
|
rs189064501
|
|
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys)
|
rs189064501
|
|
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)
|
|
|
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)
|
|
|
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr)
|
rs760433148
|
|
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)
|
rs2104411903
|
|
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg)
|
rs369837691
|
|
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del)
|
rs758593623
|
|
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)
|
|
|
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)
|
|
|
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=)
|
rs886056416
|
|
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter)
|
rs1553407942
|
|
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg)
|
rs1674406193
|
|
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)
|
|
|
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)
|
|
|
NM_004836.7(EIF2AK3):c.2985+1G>A
|
rs869025179
|
|
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs)
|
rs2104387177
|
|
NM_004836.7(EIF2AK3):c.3088-1G>C
|
|
|
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser)
|
rs755369984
|
|
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)
|
|
|
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys)
|
rs1441763585
|
|
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)
|
|
|