NM_017791.3(FLVCR2):c.*187T>C
|
rs75002047
|
0.01000
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_014053.4(FLVCR1):c.*2860C>A
|
rs138737189
|
0.00702
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_014053.4(FLVCR1):c.-87G>A
|
rs41296692
|
0.00410
|
NM_014053.4(FLVCR1):c.*166G>A
|
rs41301017
|
0.00378
|
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile)
|
rs144192049
|
0.00310
|
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)
|
rs145726709
|
0.00262
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_017791.3(FLVCR2):c.*1517T>C
|
rs114442666
|
0.00113
|
NM_014053.4(FLVCR1):c.*1300A>G
|
rs186133334
|
0.00096
|
NM_014053.4(FLVCR1):c.*284G>A
|
rs41301021
|
0.00080
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_022464.5(SIL1):c.1161G>A (p.Ala387=)
|
rs140171020
|
0.00033
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_022464.5(SIL1):c.1206C>T (p.Gly402=)
|
rs146164392
|
0.00028
|
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp)
|
rs183200579
|
0.00019
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
NM_014053.4(FLVCR1):c.*2887C>T
|
rs186854246
|
0.00011
|
NM_014053.4(FLVCR1):c.1525+12C>T
|
rs372644357
|
0.00011
|
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp)
|
rs146668840
|
0.00011
|
NM_022464.5(SIL1):c.1326C>T (p.Asp442=)
|
rs375567857
|
0.00010
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_022464.5(SIL1):c.993C>T (p.Arg331=)
|
rs201009798
|
0.00009
|
NM_022464.5(SIL1):c.1029+7G>A
|
rs371041584
|
0.00008
|
NM_022464.5(SIL1):c.1125A>G (p.Glu375=)
|
rs149424114
|
0.00005
|
NM_017791.3(FLVCR2):c.*1319C>T
|
rs541678412
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
NM_022464.5(SIL1):c.987C>T (p.Ala329=)
|
rs758596676
|
0.00003
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg)
|
rs568256888
|
0.00001
|
NM_022464.5(SIL1):c.1005G>A (p.Leu335=)
|
rs751082361
|
0.00001
|
NM_022464.5(SIL1):c.1347G>A (p.Leu449=)
|
rs1458642130
|
0.00001
|
NM_022464.5(SIL1):c.69C>T (p.Ala23=)
|
rs756893810
|
0.00001
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
NM_022464.5(SIL1):c.795C>T (p.Ile265=)
|
rs746589509
|
0.00001
|
NM_022464.5(SIL1):c.807C>T (p.Ala269=)
|
rs200359743
|
0.00001
|
NC_000001.11:g.212899378_212899379del
|
rs148146820
|
|
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
|
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_014053.4(FLVCR1):c.*2061CA[13]
|
rs139242973
|
|
NM_022464.5(SIL1):c.-94G>C
|
|
|
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
|
|
|
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
|
|
|
NM_022464.5(SIL1):c.1029+12_1029+17del
|
|
|
NM_022464.5(SIL1):c.1029+14C>T
|
|
|
NM_022464.5(SIL1):c.1029+15C>T
|
|
|
NM_022464.5(SIL1):c.1030-10C>T
|
|
|
NM_022464.5(SIL1):c.1030-19C>T
|
|
|
NM_022464.5(SIL1):c.1030-6T>G
|
|
|
NM_022464.5(SIL1):c.1030-9G>T
|
|
|
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
|
|
|
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
|
|
|
NM_022464.5(SIL1):c.105+20A>G
|
|
|
NM_022464.5(SIL1):c.105+8T>C
|
|
|
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
|
|
|
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
|
|
|
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
|
|
|
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
|
|
|
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
|
|
|
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
|
|
|
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
|
|
|
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
|
|
|
NM_022464.5(SIL1):c.1263A>G (p.Thr421=)
|
rs1157233880
|
|
NM_022464.5(SIL1):c.1275G>A (p.Leu425=)
|
|
|
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
|
|
|
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
|
|
|
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
|
|
|
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
|
|
|
NM_022464.5(SIL1):c.213C>T (p.His71=)
|
|
|
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
|
|
|
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
|
|
|
NM_022464.5(SIL1):c.244+11del
|
|
|
NM_022464.5(SIL1):c.244+17T>C
|
|
|
NM_022464.5(SIL1):c.244+8G>A
|
|
|
NM_022464.5(SIL1):c.245-15C>A
|
|
|
NM_022464.5(SIL1):c.255C>T (p.Val85=)
|
|
|
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
|
|
|
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
|
|
|
NM_022464.5(SIL1):c.270C>T (p.His90=)
|
|
|
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
|
|
|
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
|
|
|
NM_022464.5(SIL1):c.353+12A>G
|
|
|
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
|
|
|
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
NM_022464.5(SIL1):c.453+14T>C
|
|
|
NM_022464.5(SIL1):c.454-10C>G
|
|
|
NM_022464.5(SIL1):c.454-8C>G
|
|
|
NM_022464.5(SIL1):c.454-8C>T
|
|
|
NM_022464.5(SIL1):c.471A>T (p.Val157=)
|
|
|
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
|
|
|
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
|
|
|
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
|
|
|
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
|
|
|
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
|
|
|
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
NM_022464.5(SIL1):c.645+16G>A
|
|
|
NM_022464.5(SIL1):c.645+16G>T
|
|
|
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
|
|
|
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
|
|
|
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
|
|
|
NM_022464.5(SIL1):c.714A>G (p.Thr238=)
|
rs1581036406
|
|
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
|
|
|
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
|
|
|
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
|
|
|
NM_022464.5(SIL1):c.767+18C>T
|
|
|
NM_022464.5(SIL1):c.767+19G>A
|
|
|
NM_022464.5(SIL1):c.768-15G>T
|
|
|
NM_022464.5(SIL1):c.804A>T (p.Gly268=)
|
|
|
NM_022464.5(SIL1):c.810G>A (p.Leu270=)
|
rs1244661386
|
|
NM_022464.5(SIL1):c.819G>A (p.Leu273=)
|
rs778802859
|
|
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
|
|
|
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
|
|
|
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
|
|
|
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
|
|
|
NM_022464.5(SIL1):c.864+11A>C
|
|
|
NM_022464.5(SIL1):c.864+14C>A
|
|
|
NM_022464.5(SIL1):c.864+20C>G
|
|
|
NM_022464.5(SIL1):c.865-10G>C
|
|
|
NM_022464.5(SIL1):c.865-14G>T
|
|
|
NM_022464.5(SIL1):c.865-15G>A
|
|
|
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
|
|
|
NM_022464.5(SIL1):c.945C>A (p.Val315=)
|
|
|
NM_022464.5(SIL1):c.975G>A (p.Thr325=)
|
rs1187845475
|
|
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
|
|
|