NM_181581.3(DUS4L):c.-110-94C>A
|
rs145603444
|
0.00625
|
NM_006348.5(COG5):c.*437A>G
|
rs193127052
|
0.00506
|
NM_012257.4(HBP1):c.*448C>T
|
rs147954001
|
0.00452
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_006348.5(COG5):c.1262A>G (p.His421Arg)
|
rs35393416
|
0.00266
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
NM_012257.4(HBP1):c.*343C>T
|
rs534075932
|
0.00184
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
NM_006348.5(COG5):c.*157T>C
|
rs188638963
|
0.00160
|
NM_012257.4(HBP1):c.*617C>A
|
rs183289135
|
0.00155
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
NM_006348.5(COG5):c.2124A>G (p.Arg708=)
|
rs148020994
|
0.00135
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_006348.5(COG5):c.*550A>G
|
rs538476088
|
0.00070
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_006348.5(COG5):c.2271C>T (p.Pro757=)
|
rs145648013
|
0.00039
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys)
|
rs149517266
|
0.00036
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
NM_006348.5(COG5):c.15C>G (p.Gly5=)
|
rs202123650
|
0.00035
|
NM_012257.4(HBP1):c.*636C>T
|
rs551727433
|
0.00034
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
NM_012257.4(HBP1):c.*745T>C
|
rs190095596
|
0.00028
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
NM_012257.4(HBP1):c.*365T>C
|
rs773755170
|
0.00022
|
NM_006348.5(COG5):c.*865C>G
|
rs540645627
|
0.00020
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys)
|
rs143592207
|
0.00016
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
NM_006348.5(COG5):c.67G>C (p.Ala23Pro)
|
rs146391348
|
0.00016
|
NM_181581.3(DUS4L):c.-323G>A
|
rs555908807
|
0.00016
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
NM_006348.5(COG5):c.*606A>G
|
rs772464238
|
0.00009
|
NM_006348.5(COG5):c.*986G>A
|
rs886061870
|
0.00009
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
NM_006348.5(COG5):c.795C>T (p.Asp265=)
|
rs372226278
|
0.00009
|
NM_012257.4(HBP1):c.*842A>G
|
rs530897270
|
0.00009
|
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys)
|
rs754614179
|
0.00008
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro)
|
rs34100214
|
0.00006
|
NM_006348.5(COG5):c.*617A>C
|
rs894757078
|
0.00003
|
NM_006348.5(COG5):c.*162T>C
|
rs1000375620
|
0.00002
|
NM_006348.5(COG5):c.*247T>C
|
rs886061872
|
0.00002
|
NM_006348.5(COG5):c.*409T>C
|
rs912460078
|
0.00002
|
NM_006348.5(COG5):c.*634T>C
|
rs527645957
|
0.00002
|
NM_006348.5(COG5):c.*867A>G
|
rs1003504113
|
0.00002
|
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys)
|
rs771961452
|
0.00002
|
NM_006348.5(COG5):c.2009T>C (p.Val670Ala)
|
rs773647928
|
0.00002
|
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)
|
rs767217808
|
0.00002
|
NM_006348.5(COG5):c.268G>A (p.Ala90Thr)
|
rs773864216
|
0.00002
|
NM_006348.5(COG5):c.*622C>T
|
rs548613467
|
0.00001
|
NM_006348.5(COG5):c.*89A>G
|
rs1798504316
|
0.00001
|
NM_006348.5(COG5):c.*8A>C
|
rs750444305
|
0.00001
|
NM_006348.5(COG5):c.17G>A (p.Gly6Asp)
|
rs919495599
|
0.00001
|
NM_006348.5(COG5):c.185C>T (p.Ala62Val)
|
rs886061875
|
0.00001
|
NM_006348.5(COG5):c.37C>T (p.Leu13Phe)
|
rs1429157275
|
0.00001
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
NM_006348.5(COG5):c.858G>A (p.Met286Ile)
|
rs1325740175
|
0.00001
|
NM_006348.5(COG5):c.94+3A>G
|
rs374535796
|
0.00001
|
NM_012257.4(HBP1):c.*1088C>T
|
rs886061869
|
0.00001
|
NM_012257.4(HBP1):c.*601A>G
|
rs886061867
|
0.00001
|
NM_181581.3(DUS4L):c.-111+147G>C
|
rs886061881
|
0.00001
|
NM_006348.5(COG5):c.*165C>T
|
rs1798496835
|
|
NM_006348.5(COG5):c.*220G>A
|
rs1281689688
|
|
NM_006348.5(COG5):c.*237T>C
|
rs577491628
|
|
NM_006348.5(COG5):c.*306C>A
|
rs1798486114
|
|
NM_006348.5(COG5):c.*468C>A
|
rs886061871
|
|
NM_006348.5(COG5):c.*498T>G
|
rs1798468428
|
|
NM_006348.5(COG5):c.*52G>A
|
rs937117794
|
|
NM_006348.5(COG5):c.*589G>A
|
rs1422526244
|
|
NM_006348.5(COG5):c.*612G>A
|
rs6958137
|
|
NM_006348.5(COG5):c.*862C>G
|
rs1258415041
|
|
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn)
|
rs200021706
|
|
NM_006348.5(COG5):c.1900A>T (p.Met634Leu)
|
rs746657630
|
|
NM_006348.5(COG5):c.1901T>C (p.Met634Thr)
|
rs1038024684
|
|
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp)
|
rs778785040
|
|
NM_006348.5(COG5):c.376A>C (p.Asn126His)
|
rs1802592284
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.669+10A>G
|
rs886061874
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006348.5(COG5):c.836-11C>T
|
rs886061873
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
NM_012257.4(HBP1):c.*659T>C
|
rs1798368433
|
|
NM_181581.3(DUS4L):c.-111+71G>A
|
rs886061879
|
|
NM_181581.3(DUS4L):c.-111+72G>C
|
rs886061880
|
|
NM_181581.3(DUS4L):c.-162C>A
|
rs886061877
|
|
NM_181581.3(DUS4L):c.-186G>A
|
rs778346804
|
|
NM_181581.3(DUS4L):c.-275C>G
|
rs541648926
|
|
NM_181581.3(DUS4L):c.-275C>T
|
rs541648926
|
|
NM_181581.3(DUS4L):c.-301T>A
|
rs886061876
|
|
NM_181581.3(DUS4L):c.-332A>T
|
rs748922374
|
|