NM_019109.5(ALG1):c.1149C>T (p.Phe383=)
|
rs1047732
|
0.48295
|
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)
|
rs9745522
|
0.11789
|
NM_019109.5(ALG1):c.723C>T (p.His241=)
|
rs7195893
|
0.07135
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_019109.5(ALG1):c.840G>C (p.Leu280=)
|
rs12921879
|
0.04852
|
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)
|
rs112668461
|
0.01358
|
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)
|
rs143939207
|
0.00467
|
NM_019109.5(ALG1):c.334A>C (p.Met112Leu)
|
rs113219939
|
0.00315
|
NM_019109.5(ALG1):c.539+16G>A
|
rs189715949
|
0.00311
|
NM_019109.5(ALG1):c.1092C>G (p.Val364=)
|
rs113602091
|
0.00221
|
NM_019109.5(ALG1):c.1222C>T (p.Leu408=)
|
rs149319732
|
0.00217
|
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)
|
rs559805054
|
0.00096
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
0.00093
|
NM_019109.5(ALG1):c.902-20G>A
|
rs74249172
|
0.00059
|
NM_019109.4(ALG1):c.60G>A (p.Leu20=)
|
rs78694906
|
0.00043
|
NM_019109.5(ALG1):c.629+20C>T
|
rs371416008
|
0.00014
|
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys)
|
rs537333921
|
0.00007
|
NM_019109.5(ALG1):c.19G>A (p.Val7Ile)
|
rs199891552
|
0.00006
|
NM_019109.5(ALG1):c.821G>A (p.Arg274His)
|
rs529013891
|
0.00003
|
NM_019109.5(ALG1):c.22C>T (p.Leu8=)
|
rs144712188
|
0.00001
|
NM_019109.5(ALG1):c.208+14G>A
|
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.209-4del
|
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_019109.5(ALG1):c.630-19C>T
|
rs371014838
|
|
NM_019109.5(ALG1):c.741-13del
|
rs749328532
|
|
NM_019109.5(ALG1):c.741-13dup
|
|
|
NM_201400.4(EEF2KMT):c.*893del
|
rs1381360907
|
|
NM_201400.4(EEF2KMT):c.*893dup
|
|
|