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_001004127.3(ALG11):c.44+324T>C
|
rs77505745
|
0.04331
|
NM_001004127.3(ALG11):c.44+154G>A
|
rs111871296
|
0.04085
|
NM_001004127.3(ALG11):c.933G>A (p.Pro311=)
|
rs61958802
|
0.03255
|
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)
|
rs17480245
|
0.01560
|
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.173A>T (p.Asn58Ile)
|
rs150818619
|
0.00365
|
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)
|
rs143967675
|
0.00348
|
NM_001004127.3(ALG11):c.44+20G>T
|
rs200503510
|
0.00153
|
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.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00058
|
NM_001004127.2(ALG11):c.-23C>T
|
rs201534348
|
0.00045
|
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.256T>G (p.Leu86Val)
|
rs182350911
|
0.00026
|
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)
|
rs202195109
|
0.00021
|
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)
|
rs188332164
|
0.00019
|
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
0.00019
|
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)
|
rs201560109
|
0.00012
|
NM_021645.6(UTP14C):c.-67A>T
|
rs771744248
|
0.00011
|
NM_001004127.3(ALG11):c.874T>C (p.Leu292=)
|
rs533408732
|
0.00010
|
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_001004127.3(ALG11):c.44G>C (p.Arg15Thr)
|
rs139798579
|
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_001004127.3(ALG11):c.21C>G (p.Ser7Arg)
|
rs746897177
|
0.00004
|
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)
|
rs765666509
|
0.00004
|
NM_001004127.3(ALG11):c.44+19G>A
|
rs748893269
|
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_001004127.3(ALG11):c.124A>G (p.Ile42Val)
|
rs201067230
|
0.00003
|
NM_021645.6(UTP14C):c.192T>C (p.Ser64=)
|
rs137988059
|
0.00003
|
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)
|
rs748117240
|
0.00002
|
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.497A>G (p.Gln166Arg)
|
rs756365610
|
0.00001
|
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)
|
rs765431074
|
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
|
NC_000013.10:g.(?_52538988)_(52602746_?)dup
|
|
|
NC_000013.10:g.(?_52585403)_(52602726_?)del
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
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.137T>C (p.Leu46Pro)
|
rs794727256
|
|
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
|
|
|
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
|
|
|
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg)
|
rs1954160784
|
|
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)
|
rs2140832522
|
|
NM_001004127.3(ALG11):c.18G>A (p.Arg6=)
|
rs1393492365
|
|
NM_001004127.3(ALG11):c.190G>A (p.Val64Met)
|
rs1419202736
|
|
NM_001004127.3(ALG11):c.1A>G (p.Met1Val)
|
rs921941078
|
|
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
|
|
|
NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)
|
|
|
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)
|
rs267606652
|
|
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
|
|
|
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg)
|
rs771281050
|
|
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr)
|
rs2140807775
|
|
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
|
|
|
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
|
|
|
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)
|
rs1444016944
|
|
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
|
|
|
NM_001004127.3(ALG11):c.402G>A (p.Arg134=)
|
rs2140838895
|
|
NM_001004127.3(ALG11):c.44+14C>G
|
|
|
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
|
|
|
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
|
|
|
NM_001004127.3(ALG11):c.526A>G (p.Met176Val)
|
rs1268308514
|
|
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
|
|
|
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
|
rs1363416785
|
|
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
|
|
|
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)
|
rs387907180
|
|
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)
|
rs1954216629
|
|
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)
|
rs142637770
|
|
NM_001004127.3(ALG11):c.678T>C (p.Asn226=)
|
rs1593903157
|
|
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
|
|
|
NM_001004127.3(ALG11):c.75C>T (p.Leu25=)
|
rs886050312
|
|
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
|
|
|
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
|
|
|
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)
|
rs1401571024
|
|
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)
|
rs387907181
|
|
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
|
rs1593903383
|
|
NM_001004127.3(ALG11):c.900A>T (p.Gly300=)
|
rs376118160
|
|
NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)
|
|
|
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)
|
rs1064795802
|
|
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)
|
rs2140840089
|
|
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)
|
rs387907184
|
|
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
|
|