NM_018714.3(COG1):c.1282-48T>C
|
rs1026130
|
0.98047
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
NM_005765.3(ATP6AP2):c.534+45G>C
|
rs3112299
|
0.91713
|
NM_018714.3(COG1):c.2383-17T>C
|
rs3829571
|
0.91491
|
NM_018475.5(TMEM165):c.18A>G (p.Pro6=)
|
rs1128141
|
0.71708
|
NM_020751.3(COG6):c.297+47C>T
|
rs7330016
|
0.65748
|
NM_006348.5(COG5):c.895T>C (p.Phe299Leu)
|
rs2269970
|
0.64619
|
NM_018389.5(SLC35C1):c.*49G>A
|
rs1139266
|
0.63052
|
NM_006416.5(SLC35A1):c.-18G>C
|
rs9450704
|
0.59575
|
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)
|
rs1026128
|
0.50958
|
NM_018714.2(COG1):c.-27A>G
|
rs3764359
|
0.50887
|
NM_015386.3(COG4):c.2142G>A (p.Ser714=)
|
rs11054
|
0.47870
|
NM_015386.3(COG4):c.1482-25T>C
|
rs2303793
|
0.46944
|
NM_018714.3(COG1):c.543A>G (p.Ala181=)
|
rs11544800
|
0.43890
|
NM_018714.3(COG1):c.333G>A (p.Gln111=)
|
rs1052706
|
0.43844
|
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)
|
rs3812883
|
0.43470
|
NM_015386.3(COG4):c.646C>T (p.Leu216=)
|
rs3762171
|
0.38086
|
NM_001497.4(B4GALT1):c.648+102C>T
|
rs913214
|
0.35792
|
NM_018475.5(TMEM165):c.899-15T>C
|
rs7660517
|
0.33010
|
NM_001135146.2(SLC39A8):c.552+48C>T
|
rs1462947
|
0.30373
|
NM_018475.5(TMEM165):c.*2_*3del
|
rs35154686
|
0.29449
|
NM_018389.5(SLC35C1):c.-3A>G
|
rs3808976
|
0.27016
|
NM_006348.5(COG5):c.949-18A>G
|
rs12536603
|
0.15851
|
NM_006348.5(COG5):c.1689T>G (p.Val563=)
|
rs17349904
|
0.15364
|
NM_001497.4(B4GALT1):c.597C>T (p.His199=)
|
rs1065765
|
0.05834
|
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)
|
rs2149060093
|
|
NM_015077.4(SARM1):c.549= (p.Ser183=)
|
|
|
NM_018714.3(COG1):c.1782G>A (p.Glu594=)
|
rs1037256
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|