NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)
|
rs17850652
|
0.09110
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_020320.5(RARS2):c.703G>A (p.Val235Met)
|
rs35862137
|
0.03019
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)
|
rs73496064
|
0.00172
|
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)
|
rs148209667
|
0.00165
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)
|
rs150309842
|
0.00099
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_020320.5(RARS2):c.1518C>T (p.Asp506=)
|
rs754538094
|
0.00059
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
NM_020320.5(RARS2):c.879-6T>C
|
rs117516147
|
0.00036
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)
|
rs368182922
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln)
|
rs138490776
|
0.00023
|
NM_020320.5(RARS2):c.1512-6T>C
|
rs185924037
|
0.00022
|
NM_020320.5(RARS2):c.6G>A (p.Ala2=)
|
rs371542506
|
0.00018
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_020320.5(RARS2):c.1413C>G (p.His471Gln)
|
rs187815721
|
0.00016
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
NM_016955.4(SEPSECS):c.84T>C (p.His28=)
|
rs532571185
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_016955.4(SEPSECS):c.1027-7G>A
|
rs374407543
|
0.00011
|
NM_016955.4(SEPSECS):c.388+10G>A
|
rs376797370
|
0.00011
|
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)
|
rs572892329
|
0.00009
|
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)
|
rs139718374
|
0.00009
|
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)
|
rs141199115
|
0.00009
|
NM_016955.4(SEPSECS):c.1027-9T>C
|
rs368335778
|
0.00008
|
NM_016955.4(SEPSECS):c.1212-10C>G
|
rs375688949
|
0.00008
|
NM_016955.4(SEPSECS):c.*6G>A
|
rs753956739
|
0.00007
|
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)
|
rs375534729
|
0.00007
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val)
|
rs200632524
|
0.00006
|
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu)
|
rs545377358
|
0.00006
|
NM_020320.5(RARS2):c.1512-4T>C
|
rs542159390
|
0.00005
|
NM_020320.5(RARS2):c.735G>A (p.Arg245=)
|
rs574006058
|
0.00005
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)
|
rs764436131
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_020320.5(RARS2):c.444C>T (p.Thr148=)
|
rs201596004
|
0.00004
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)
|
rs762180254
|
0.00003
|
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn)
|
rs200547165
|
0.00003
|
NM_020320.5(RARS2):c.709G>A (p.Ala237Thr)
|
rs771897965
|
0.00003
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)
|
rs747732980
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_020320.5(RARS2):c.1170C>T (p.Val390=)
|
rs780796866
|
0.00002
|
NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys)
|
rs775657290
|
0.00002
|
NM_020320.5(RARS2):c.152A>G (p.Glu51Gly)
|
rs863224185
|
0.00002
|
NM_020320.5(RARS2):c.970A>G (p.Thr324Ala)
|
rs774506039
|
0.00002
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln)
|
rs756402081
|
0.00001
|
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)
|
rs1004182733
|
0.00001
|
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)
|
rs779387647
|
0.00001
|
NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn)
|
rs200101535
|
0.00001
|
NM_020320.5(RARS2):c.110A>G (p.Glu37Gly)
|
rs768728673
|
0.00001
|
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)
|
rs562472225
|
0.00001
|
NM_020320.5(RARS2):c.1692C>G (p.Ala564=)
|
rs760078372
|
0.00001
|
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe)
|
rs144242932
|
0.00001
|
NM_020320.5(RARS2):c.1724dup (p.Cys576fs)
|
rs863224184
|
0.00001
|
NM_020320.5(RARS2):c.28G>A (p.Ala10Thr)
|
rs755340864
|
0.00001
|
NM_020320.5(RARS2):c.660A>C (p.Ala220=)
|
rs553502877
|
0.00001
|
NM_020320.5(RARS2):c.885A>G (p.Gly295=)
|
rs769636930
|
0.00001
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.137-7T>C
|
rs1554972545
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)
|
rs1064796736
|
|
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)
|
rs1261267969
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.115-4del
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)
|
rs752082832
|
|
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)
|
rs1233729947
|
|
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)
|
rs1728243877
|
|
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)
|
rs768840152
|
|
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)
|
rs1194507895
|
|
NM_016955.4(SEPSECS):c.804+4A>T
|
rs1479554001
|
|
NM_020320.5(RARS2):c.1587-10C>G
|
rs531179961
|
|
NM_020320.5(RARS2):c.1675G>A (p.Val559Ile)
|
rs1770872960
|
|
NM_020320.5(RARS2):c.19C>T (p.Arg7Cys)
|
rs201693843
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.262G>A (p.Val88Ile)
|
rs1562212642
|
|
NM_020320.5(RARS2):c.637G>A (p.Ala213Thr)
|
rs1562102337
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_020320.5(RARS2):c.757A>G (p.Ile253Val)
|
rs863224179
|
|
NM_020320.5(RARS2):c.772-3del
|
rs368859792
|
|
NM_020320.5(RARS2):c.772-4_772-3del
|
rs368859792
|
|
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)
|
rs139721632
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|