NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)
|
rs182454962
|
0.00494
|
NM_001127671.2(LIFR):c.2591+17T>C
|
rs73077453
|
0.00459
|
NM_203486.3(DLL3):c.409+61G>A
|
rs377405105
|
0.00384
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)
|
rs199831437
|
0.00317
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_020661.4(AICDA):c.74G>A (p.Arg25His)
|
rs61730095
|
0.00289
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)
|
rs74856317
|
0.00245
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00238
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_016239.4(MYO15A):c.7655-7C>G
|
rs191171943
|
0.00211
|
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=)
|
rs190486507
|
0.00208
|
NM_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser)
|
rs148139900
|
0.00166
|
NM_203486.3(DLL3):c.618C>T (p.Pro206=)
|
rs192624990
|
0.00153
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_203486.3(DLL3):c.352-15C>T
|
rs201902809
|
0.00135
|
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)
|
rs116719245
|
0.00120
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_203486.3(DLL3):c.63C>T (p.Leu21=)
|
rs146255899
|
0.00109
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
NM_203486.3(DLL3):c.153C>T (p.Ser51=)
|
rs373980582
|
0.00061
|
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)
|
rs144817331
|
0.00057
|
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=)
|
rs138418444
|
0.00055
|
NM_031942.5(CDCA7):c.745A>C (p.Arg249=)
|
rs146148251
|
0.00053
|
NM_203486.3(DLL3):c.1356C>T (p.Val452=)
|
rs554268445
|
0.00050
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=)
|
rs41300574
|
0.00047
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser)
|
rs150049339
|
0.00041
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala)
|
rs200482346
|
0.00018
|
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=)
|
rs370508895
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)
|
rs369627072
|
0.00014
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
NM_203486.3(DLL3):c.870+12C>G
|
rs180859782
|
0.00012
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_001127671.2(LIFR):c.147T>G (p.Ala49=)
|
rs879807300
|
0.00005
|
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)
|
rs779614307
|
0.00005
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_203486.3(DLL3):c.409+19G>T
|
rs201227250
|
0.00004
|
NM_203486.3(DLL3):c.984C>T (p.Val328=)
|
rs138378695
|
0.00004
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_001127671.2(LIFR):c.2670+6C>G
|
rs898718526
|
0.00003
|
NM_001378454.1(ALMS1):c.764+19A>G
|
rs1035974697
|
0.00002
|
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=)
|
rs1258728953
|
0.00001
|
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=)
|
rs749402939
|
0.00001
|
NM_006736.6(DNAJB2):c.446-17C>G
|
rs760786001
|
0.00001
|
NM_006892.4(DNMT3B):c.2421-4C>T
|
rs766802588
|
0.00001
|
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=)
|
rs928050535
|
0.00001
|
NM_203486.3(DLL3):c.138G>A (p.Pro46=)
|
rs987371248
|
0.00001
|
NM_000231.3(SGCG):c.505+15G>T
|
rs144143366
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.77-3320G>C
|
rs2100738654
|
|
NM_000302.4(PLOD1):c.77-3351T>C
|
rs1397591568
|
|
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC
|
rs546389039
|
|
NM_001127671.2(LIFR):c.33A>G (p.Pro11=)
|
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.764+20T>G
|
|
|
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=)
|
rs368683058
|
|
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
|
|
|
NM_133261.3(GIPC3):c.69G>A (p.Ala23=)
|
rs150473323
|
|
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
rs376905666
|
|