NM_021645.6(UTP14C):c.254G>T (p.Gly85Val)
|
rs3742289
|
0.63014
|
NM_021645.6(UTP14C):c.835C>T (p.Leu279=)
|
rs3742291
|
0.56764
|
NM_021645.6(UTP14C):c.-22A>C
|
rs3825528
|
0.40130
|
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala)
|
rs3742290
|
0.10387
|
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val)
|
rs73184339
|
0.00421
|
NM_021645.6(UTP14C):c.-42G>A
|
rs140978619
|
0.00414
|
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)
|
rs143967675
|
0.00348
|
NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu)
|
rs144970453
|
0.00113
|
NM_021645.6(UTP14C):c.326T>A (p.Val109Asp)
|
rs144752647
|
0.00095
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)
|
rs115524395
|
0.00044
|
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)
|
rs146432805
|
0.00031
|
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)
|
rs188332164
|
0.00019
|
NM_021645.6(UTP14C):c.-67A>T
|
rs771744248
|
0.00011
|
NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)
|
rs763915286
|
0.00007
|
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)
|
rs144883776
|
0.00006
|
NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp)
|
rs184583544
|
0.00006
|
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=)
|
rs147711581
|
0.00004
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
NM_021645.6(UTP14C):c.277G>A (p.Val93Ile)
|
rs545278962
|
0.00004
|
NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser)
|
rs201103979
|
0.00004
|
NM_021645.6(UTP14C):c.192T>C (p.Ser64=)
|
rs137988059
|
0.00003
|
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe)
|
rs886050313
|
0.00001
|
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala)
|
rs200978613
|
0.00001
|
NM_001004127.3(ALG11):c.987G>A (p.Lys329=)
|
rs921029114
|
0.00001
|
NM_021645.6(UTP14C):c.276C>T (p.Pro92=)
|
rs144836764
|
0.00001
|
NM_021645.6(UTP14C):c.575A>G (p.His192Arg)
|
rs978706850
|
0.00001
|
NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe)
|
rs775998263
|
0.00001
|
NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)
|
|
|
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)
|
rs387907182
|
|
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)
|
rs2140840645
|
|
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=)
|
rs141089354
|
|
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)
|
rs387907183
|
|
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
|
|
|
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)
|
rs1064795803
|
|
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)
|
rs398123525
|
|
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
|
|
|
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)
|
rs757069433
|
|
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
|
|
|
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
|
|
|
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)
|
rs1064794465
|
|
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)
|
rs750430228
|
|
NM_021645.6(UTP14C):c.-193G>T
|
rs1954265263
|
|
NM_021645.6(UTP14C):c.-486-14G>T
|
rs752238208
|
|
NM_021645.6(UTP14C):c.-486-7T>C
|
rs2140846961
|
|
NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)
|
|
|
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn)
|
rs886050314
|
|