NM_000182.5(HADHA):c.1621-26G>T
|
rs1865324
|
0.82320
|
NM_000182.5(HADHA):c.1393-62A>C
|
rs13387855
|
0.82311
|
NM_000183.2(HADHB):c.-201G>A
|
rs3806516
|
0.60985
|
NM_000182.5(HADHA):c.573+32T>C
|
rs7593175
|
0.60341
|
NM_000183.2(HADHB):c.-214C>T
|
rs72809668
|
0.17558
|
NM_000182.5(HADHA):c.573+26G>C
|
rs35746418
|
0.17547
|
NM_000182.5(HADHA):c.67+51G>T
|
rs62128457
|
0.17544
|
NM_000182.5(HADHA):c.*302G>A
|
rs1049987
|
0.17222
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.17163
|
NM_000182.5(HADHA):c.180+69G>C
|
rs2303892
|
0.17014
|
NM_000182.5(HADHA):c.68-82T>A
|
rs12987980
|
0.16953
|
NM_000182.5(HADHA):c.315-44A>C
|
rs3892649
|
0.16834
|
NM_000182.5(HADHA):c.*510A>T
|
rs13432453
|
0.04522
|
NM_000182.5(HADHA):c.1392+10G>A
|
rs60085478
|
0.02277
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
NM_000182.5(HADHA):c.573+8dup
|
rs112196218
|
0.00584
|
NM_000182.5(HADHA):c.*561C>T
|
rs115151034
|
0.00505
|
NM_000182.5(HADHA):c.*331T>C
|
rs189483687
|
0.00500
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00446
|
NM_000182.5(HADHA):c.2146+16T>C
|
rs145930159
|
0.00408
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00383
|
NM_000182.5(HADHA):c.68-10T>G
|
rs144414842
|
0.00372
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)
|
rs56218308
|
0.00275
|
NM_000182.5(HADHA):c.-25C>G
|
rs184300489
|
0.00274
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
|
rs149632783
|
0.00173
|
NM_000183.2(HADHB):c.-185G>C
|
rs367712851
|
0.00137
|
NM_000182.5(HADHA):c.*355C>T
|
rs539549041
|
0.00071
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00054
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00029
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00028
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000182.5(HADHA):c.*586G>A
|
rs749568626
|
0.00021
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00020
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00017
|
NM_000182.5(HADHA):c.1690-14C>T
|
rs142401180
|
0.00016
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00013
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00009
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00009
|
NM_000191.3(HMGCL):c.375C>T (p.Val125=)
|
rs139102957
|
0.00009
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00009
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00008
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00008
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00008
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00007
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
NM_000182.5(HADHA):c.*403C>T
|
rs146210168
|
0.00006
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00005
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00004
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
0.00003
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00002
|
NM_000182.5(HADHA):c.*494G>T
|
rs886055856
|
0.00002
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala)
|
rs1277103504
|
0.00002
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000182.5(HADHA):c.*405C>T
|
rs886055859
|
0.00001
|
NM_000182.5(HADHA):c.*437T>A
|
rs779402635
|
0.00001
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn)
|
rs778263925
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00001
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
rs1303177735
|
0.00001
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00001
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
|
rs1231960929
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
|
rs775428463
|
0.00001
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000182.5(HADHA):c.315-2A>T
|
rs1297938234
|
0.00001
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000182.5(HADHA):c.68-414A>G
|
rs1045384430
|
0.00001
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00001
|
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
|
rs759968341
|
0.00001
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
0.00001
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.144+1G>A
|
rs1638698732
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
0.00001
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
0.00001
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
NM_000191.3(HMGCL):c.858G>A (p.Glu286=)
|
rs376715568
|
0.00001
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.*103A>T
|
rs1360388686
|
|
NM_000182.5(HADHA):c.*202G>A
|
rs7260
|
|
NM_000182.5(HADHA):c.*373GT[1]
|
rs886055861
|
|
NM_000182.5(HADHA):c.*389C>G
|
rs886055860
|
|
NM_000182.5(HADHA):c.*458TG[3]
|
rs146500488
|
|
NM_000182.5(HADHA):c.*46G>A
|
rs367911534
|
|
NM_000182.5(HADHA):c.*489G>A
|
rs886055857
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
rs779640035
|
|
NM_000182.5(HADHA):c.1052del (p.Lys351fs)
|
rs1057516556
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1096_1097dup (p.Leu367fs)
|
rs2465541119
|
|
NM_000182.5(HADHA):c.1137C>G (p.Val379=)
|
rs1669919221
|
|
NM_000182.5(HADHA):c.1152del (p.Gly384_Leu385insTer)
|
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
NM_000182.5(HADHA):c.1165del (p.Asp391fs)
|
rs2465540902
|
|
NM_000182.5(HADHA):c.1202del (p.Gln401fs)
|
rs1057517087
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
NM_000182.5(HADHA):c.1221-1G>C
|
rs1057516233
|
|
NM_000182.5(HADHA):c.1221-2A>G
|
rs2465534656
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer)
|
rs1057516734
|
|
NM_000182.5(HADHA):c.1351del (p.Asp451fs)
|
rs2465534236
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
NM_000182.5(HADHA):c.1533dup (p.Ile512fs)
|
rs2465517653
|
|
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)
|
rs763353852
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
rs2465517597
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
rs2465608988
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
NM_000182.5(HADHA):c.1621-2A>G
|
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
rs2465515942
|
|
NM_000182.5(HADHA):c.1643C>T (p.Thr548Ile)
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1653_1668del (p.Ala552fs)
|
rs2465515802
|
|
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)
|
rs2465515861
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
rs1574602991
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
rs376716058
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
rs2465513035
|
|
NM_000182.5(HADHA):c.180_180+5delinsAT
|
rs1553316142
|
|
NM_000182.5(HADHA):c.181-1G>A
|
rs2465605379
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)
|
rs1553312033
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
rs1669575714
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
rs2465508716
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
rs2465508638
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)
|
rs2465508561
|
|
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)
|
rs1553311804
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.1A>G (p.Met1Val)
|
rs1057517430
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
rs868693884
|
|
NM_000182.5(HADHA):c.2026del (p.Arg676fs)
|
rs1553311716
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2059del (p.Met687fs)
|
rs1553311706
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)
|
rs2465505819
|
|
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)
|
rs1057517132
|
|
NM_000182.5(HADHA):c.2077del (p.Ile693fs)
|
rs2465505832
|
|
NM_000182.5(HADHA):c.2081del (p.Leu694fs)
|
rs2465505815
|
|
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)
|
rs2465505643
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.2146+2T>C
|
rs1057516350
|
|
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)
|
rs2465504992
|
|
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)
|
rs2465504974
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)
|
rs142120825
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
NM_000182.5(HADHA):c.2222del (p.Gly741fs)
|
rs1553311647
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)
|
rs1553311646
|
|
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs)
|
rs1553311645
|
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)
|
rs1057516326
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.278C>G (p.Ser93Ter)
|
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.302G>T (p.Gly101Val)
|
rs2465605084
|
|
NM_000182.5(HADHA):c.314+1G>C
|
rs1183351612
|
|
NM_000182.5(HADHA):c.3G>A (p.Met1Ile)
|
rs1237270916
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.515del (p.Pro172fs)
|
rs1057517282
|
|
NM_000182.5(HADHA):c.531_532insT (p.Ala178fs)
|
rs2465595874
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.573+2T>C
|
rs2465595745
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)
|
rs1300516636
|
|
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
|
rs2465591445
|
|
NM_000182.5(HADHA):c.67+1G>A
|
rs541591704
|
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.677-1G>A
|
rs1553314070
|
|
NM_000182.5(HADHA):c.677-2A>G
|
rs2465562056
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.800-1G>T
|
rs1553314024
|
|
NM_000182.5(HADHA):c.800-1_801del
|
rs1553314023
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
|
rs2465560325
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.919-1G>A
|
rs1448524929
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
|
rs2465556864
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000182.5(HADHA):c.976-2A>G
|
rs2465552540
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|