NM_025099.6(CTC1):c.435+3=
|
rs6503093
|
0.99999
|
NM_001363.5(DKC1):c.369G>T (p.Thr123=)
|
rs2728532
|
0.99384
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
NM_025099.6(CTC1):c.990C>T (p.Asp330=)
|
rs74506939
|
0.15238
|
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)
|
rs1127051
|
0.07549
|
NM_001099274.3(TINF2):c.400-20_400-18dup
|
rs58372573
|
0.06483
|
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)
|
rs10141326
|
0.06408
|
NM_025099.6(CTC1):c.2386-13T>G
|
rs3027237
|
0.04073
|
NM_025099.6(CTC1):c.2160C>T (p.Thr720=)
|
rs3027235
|
0.04058
|
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)
|
rs17102313
|
0.03737
|
NM_025099.6(CTC1):c.366A>G (p.Ala122=)
|
rs73244859
|
0.02139
|
NM_017838.4(NHP2):c.160+16G>C
|
rs41285577
|
0.01797
|
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)
|
rs3027242
|
0.01548
|
NM_025099.6(CTC1):c.126A>G (p.Val42=)
|
rs116271319
|
0.01470
|
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)
|
rs78390421
|
0.01469
|
NM_025099.6(CTC1):c.1307G>A (p.Arg436His)
|
rs75790638
|
0.01383
|
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)
|
rs62620189
|
0.01383
|
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=)
|
rs115990839
|
0.01042
|
NM_017838.4(NHP2):c.351C>T (p.Ala117=)
|
rs115334254
|
0.01019
|
NM_025099.6(CTC1):c.197+15C>T
|
rs111473388
|
0.00989
|
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)
|
rs62637610
|
0.00947
|
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)
|
rs62637613
|
0.00946
|
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser)
|
rs17102311
|
0.00688
|
NM_001363.5(DKC1):c.369= (p.Thr123=)
|
rs2728532
|
0.00616
|
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)
|
rs145890370
|
0.00615
|
NM_025099.6(CTC1):c.1617+11G>A
|
rs114425026
|
0.00535
|
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)
|
rs184422577
|
0.00410
|
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)
|
rs139588879
|
0.00368
|
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)
|
rs117234138
|
0.00329
|
NM_001363.5(DKC1):c.776A>C (p.His259Pro)
|
rs61757608
|
0.00316
|
NM_001099274.3(TINF2):c.1129+15T>A
|
rs200599508
|
0.00197
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_022762.5(RMND5B):c.*1820A>G
|
rs201653595
|
0.00188
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00166
|
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)
|
rs189265179
|
0.00163
|
NM_025099.6(CTC1):c.477G>T (p.Leu159=)
|
rs200658590
|
0.00148
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
NM_001099274.3(TINF2):c.400-9C>T
|
rs201087708
|
0.00128
|
NM_017838.4(NHP2):c.270A>G (p.Val90=)
|
rs148179279
|
0.00121
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_001099274.3(TINF2):c.771C>T (p.His257=)
|
rs75124018
|
0.00106
|
NM_025099.6(CTC1):c.663T>C (p.Gly221=)
|
rs138725914
|
0.00105
|
NM_001363.5(DKC1):c.771+13G>A
|
rs201592812
|
0.00091
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=)
|
rs150409406
|
0.00079
|
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)
|
rs199422321
|
0.00077
|
NM_001363.5(DKC1):c.172-12G>A
|
rs376783942
|
0.00055
|
NM_025099.6(CTC1):c.189C>G (p.Leu63=)
|
rs188658691
|
0.00044
|
NM_025099.6(CTC1):c.3221+13G>C
|
rs115684610
|
0.00041
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=)
|
rs374320783
|
0.00030
|
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser)
|
rs183556317
|
0.00029
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_001363.5(DKC1):c.915+8C>T
|
rs200156434
|
0.00023
|
NM_001363.5(DKC1):c.1431G>A (p.Lys477=)
|
rs3752356
|
0.00013
|
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)
|
rs374771308
|
0.00013
|
NM_001363.5(DKC1):c.978C>T (p.Gly326=)
|
rs145325102
|
0.00013
|
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln)
|
rs201592575
|
0.00013
|
NM_001099274.3(TINF2):c.492A>G (p.Thr164=)
|
rs781353658
|
0.00011
|
NM_025099.6(CTC1):c.3515-17C>T
|
rs376402639
|
0.00008
|
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=)
|
rs775991134
|
0.00007
|
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr)
|
rs374799227
|
0.00004
|
NM_017838.4(NHP2):c.231-20_231-19del
|
rs1491337170
|
0.00003
|
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys)
|
rs201561504
|
0.00002
|
NM_001363.5(DKC1):c.138G>A (p.Lys46=)
|
rs369777662
|
0.00001
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
NM_025099.6(CTC1):c.233G>A (p.Arg78His)
|
rs369627256
|
0.00001
|
NM_001099274.3(TINF2):c.605-4del
|
|
|
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
|
|
|
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
|
|
|
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del)
|
rs781922569
|
|
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001363.5(DKC1):c.171+14del
|
rs782433339
|
|
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
|
|
|
NM_001363.5(DKC1):c.84+19G>T
|
|
|
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
|
|
|
NM_017838.4(NHP2):c.160+11C>T
|
rs201274409
|
|
NM_017838.4(NHP2):c.231-13dup
|
|
|
NM_017838.4(NHP2):c.231-17_231-16del
|
rs572960228
|
|
NM_017838.4(NHP2):c.336+20del
|
rs542745432
|
|
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)
|
rs62624978
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)
|
rs571035242
|
|
NM_025099.6(CTC1):c.647+12del
|
rs755954781
|
|