NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_025265.4(TSEN2):c.-391G>A
|
rs3806662
|
0.09194
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_024075.4(TSEN34):c.*1177G>T
|
rs78711269
|
0.03779
|
NM_006416.5(SLC35A1):c.*147C>T
|
rs55960393
|
0.03465
|
NM_207346.2(TSEN54):c.*331T>A
|
rs150621720
|
0.02560
|
NM_024075.4(TSEN34):c.*1176A>T
|
rs78793520
|
0.02245
|
NM_006416.5(SLC35A1):c.*240G>T
|
rs9450722
|
0.01462
|
NM_016955.4(SEPSECS):c.*371_*372del
|
rs143987218
|
0.01024
|
NM_024075.5(TSEN34):c.-5+15G>A
|
rs141003293
|
0.00497
|
NM_003384.2(VRK1):c.-110C>T
|
rs77630815
|
0.00455
|
NM_001077446.4(TSEN34):c.*1053G>A
|
rs182704571
|
0.00428
|
NM_024075.5(TSEN34):c.-95A>G
|
rs115290127
|
0.00390
|
NM_025265.4(TSEN2):c.272-4C>G
|
rs41293385
|
0.00369
|
NM_025265.4(TSEN2):c.-20G>A
|
rs9871742
|
0.00345
|
NM_207346.3(TSEN54):c.*169T>C
|
rs111972085
|
0.00317
|
NM_025265.4(TSEN2):c.-173C>T
|
rs76012118
|
0.00250
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
NM_025265.4(TSEN2):c.405G>A (p.Pro135=)
|
rs140728375
|
0.00090
|
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)
|
rs141249409
|
0.00070
|
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)
|
rs200683263
|
0.00061
|
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)
|
rs138586360
|
0.00024
|
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)
|
rs199682817
|
0.00009
|
NM_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
0.00006
|
NM_001077446.4(TSEN34):c.*385A>T
|
rs36622
|
|
NM_006416.5(SLC35A1):c.*294dup
|
rs11432150
|
|
NM_016042.4(EXOSC3):c.*571TAT[1]
|
rs34753153
|
|
NM_016955.3(SEPSECS):c.-147dup
|
rs536637971
|
|
NM_016955.4(SEPSECS):c.*236_*237insTTT
|
rs140928773
|
|
NM_025265.4(TSEN2):c.-200C>T
|
rs540294443
|
|
NM_025265.4(TSEN2):c.-297C>T
|
rs190941859
|
|
NM_025265.4(TSEN2):c.-373C>T
|
rs550947754
|
|
NM_025265.4(TSEN2):c.-374G>A
|
rs28657473
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|