|
NM_000182.5(HADHA):c.1621-26G>T
|
rs1865324
|
0.82473
|
|
NM_000182.5(HADHA):c.1393-62A>C
|
rs13387855
|
0.82463
|
|
NM_000182.5(HADHA):c.*302G>A
|
rs1049987
|
0.17222
|
|
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.1620+11G>C
|
rs112236946
|
0.01807
|
|
NM_000182.5(HADHA):c.*561C>T
|
rs115151034
|
0.00544
|
|
NM_000182.5(HADHA):c.*331T>C
|
rs189483687
|
0.00500
|
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00412
|
|
NM_000182.5(HADHA):c.2146+16T>C
|
rs145930159
|
0.00408
|
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
|
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_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.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
|
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.1621-19A>G
|
rs372878267
|
0.00021
|
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
|
NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)
|
rs141164185
|
0.00019
|
|
NM_000182.5(HADHA):c.2146+18G>A
|
rs200961004
|
0.00017
|
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
|
NM_000182.5(HADHA):c.1690-14C>T
|
rs142401180
|
0.00013
|
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
|
NM_000182.5(HADHA):c.1690-12C>T
|
rs369641464
|
0.00011
|
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00010
|
|
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.1886-16T>C
|
rs376113444
|
0.00009
|
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00008
|
|
NM_000182.5(HADHA):c.1629T>C (p.Pro543=)
|
rs1056729658
|
0.00008
|
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
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.*403C>T
|
rs146210168
|
0.00006
|
|
NM_000182.5(HADHA):c.1425C>T (p.Asn475=)
|
rs774394602
|
0.00006
|
|
NM_000182.5(HADHA):c.2010C>T (p.Asp670=)
|
rs377688807
|
0.00006
|
|
NM_000182.5(HADHA):c.1752C>T (p.Ala584=)
|
rs761749332
|
0.00005
|
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
|
NM_000182.5(HADHA):c.2106C>T (p.Ile702=)
|
rs267599302
|
0.00005
|
|
NM_000182.5(HADHA):c.1086-12C>T
|
rs767692992
|
0.00004
|
|
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.1542C>T (p.Thr514=)
|
rs374189575
|
0.00004
|
|
NM_000182.5(HADHA):c.1554C>A (p.Ser518=)
|
rs765162716
|
0.00004
|
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00003
|
|
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.1479+9G>A
|
rs761058783
|
0.00003
|
|
NM_000182.5(HADHA):c.1620+9C>G
|
rs772786562
|
0.00003
|
|
NM_000182.5(HADHA):c.1683C>A (p.Ile561=)
|
rs372266559
|
0.00003
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
|
NM_000182.5(HADHA):c.1923G>A (p.Glu641=)
|
rs754472544
|
0.00003
|
|
NM_000182.5(HADHA):c.1089T>C (p.His363=)
|
rs755296795
|
0.00002
|
|
NM_000182.5(HADHA):c.1353C>T (p.Asp451=)
|
rs770306077
|
0.00002
|
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
|
NM_000182.5(HADHA):c.1656G>A (p.Ala552=)
|
rs541069396
|
0.00002
|
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
|
NM_000182.5(HADHA):c.1701C>T (p.Asp567=)
|
rs778014305
|
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.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
|
NM_000182.5(HADHA):c.2133G>A (p.Pro711=)
|
rs186499456
|
0.00002
|
|
NM_000182.5(HADHA):c.2146+10G>A
|
rs768516891
|
0.00002
|
|
NM_000182.5(HADHA):c.2147-10C>T
|
rs371667948
|
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.1128C>T (p.Ile376=)
|
rs765101895
|
0.00001
|
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
|
NM_000182.5(HADHA):c.1140C>T (p.Ser380=)
|
rs199727889
|
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.1245A>G (p.Lys415=)
|
rs1669827760
|
0.00001
|
|
NM_000182.5(HADHA):c.1323C>T (p.Ala441=)
|
rs1288347890
|
0.00001
|
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
|
NM_000182.5(HADHA):c.1332G>A (p.Val444=)
|
rs1669824778
|
0.00001
|
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
|
NM_000182.5(HADHA):c.1392+7A>G
|
rs757442432
|
0.00001
|
|
NM_000182.5(HADHA):c.1407C>T (p.His469=)
|
rs776013887
|
0.00001
|
|
NM_000182.5(HADHA):c.1434T>C (p.Ala478=)
|
rs780854216
|
0.00001
|
|
NM_000182.5(HADHA):c.1488C>A (p.Gly496=)
|
rs138750492
|
0.00001
|
|
NM_000182.5(HADHA):c.1524G>A (p.Leu508=)
|
rs748881184
|
0.00001
|
|
NM_000182.5(HADHA):c.1539G>A (p.Thr513=)
|
rs755287314
|
0.00001
|
|
NM_000182.5(HADHA):c.1599G>A (p.Gly533=)
|
rs773993179
|
0.00001
|
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
|
NM_000182.5(HADHA):c.1675A>G (p.Ile559Val)
|
rs780480297
|
0.00001
|
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
|
NM_000182.5(HADHA):c.1704G>A (p.Pro568=)
|
rs543883463
|
0.00001
|
|
NM_000182.5(HADHA):c.1755C>T (p.Ala585=)
|
rs921898736
|
0.00001
|
|
NM_000182.5(HADHA):c.1758A>C (p.Thr586=)
|
rs974621601
|
0.00001
|
|
NM_000182.5(HADHA):c.1800G>A (p.Ala600=)
|
rs771364967
|
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.1886-8T>C
|
rs749138340
|
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.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
|
NM_000182.5(HADHA):c.2000+8C>T
|
rs750784743
|
0.00001
|
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
|
NM_000182.5(HADHA):c.2016C>T (p.Asp672=)
|
rs1669506916
|
0.00001
|
|
NM_000182.5(HADHA):c.2022G>A (p.Gln674=)
|
rs1479427836
|
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.2112C>T (p.Ala704=)
|
rs754294789
|
0.00001
|
|
NM_000182.5(HADHA):c.2121G>C (p.Gly707=)
|
rs374503588
|
0.00001
|
|
NM_000182.5(HADHA):c.2146+9C>T
|
rs776491880
|
0.00001
|
|
NM_000182.5(HADHA):c.2147-19G>C
|
rs367910392
|
0.00001
|
|
NM_000182.5(HADHA):c.2148G>C (p.Gly716=)
|
rs1271662796
|
0.00001
|
|
NM_000182.5(HADHA):c.2156G>A (p.Arg719His)
|
rs751955844
|
0.00001
|
|
NM_000182.5(HADHA):c.2169G>T (p.Leu723=)
|
rs1352996721
|
0.00001
|
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
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.2200A>T (p.Lys734Ter)
|
rs1322871046
|
0.00001
|
|
NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)
|
rs774114061
|
0.00001
|
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
0.00001
|
|
NC_000002.12:g.26201318_26201321del
|
|
|
|
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.*494G>T
|
rs886055856
|
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
|
NM_000182.5(HADHA):c.1086-1_1088dup
|
|
|
|
NM_000182.5(HADHA):c.1086-2A>T
|
rs2147762411
|
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
|
NM_000182.5(HADHA):c.1086-8C>T
|
|
|
|
NM_000182.5(HADHA):c.1086-9G>T
|
|
|
|
NM_000182.5(HADHA):c.1096_1097dup (p.Leu367fs)
|
|
|
|
NM_000182.5(HADHA):c.1110G>C (p.Gly370=)
|
|
|
|
NM_000182.5(HADHA):c.1113G>T (p.Leu371=)
|
|
|
|
NM_000182.5(HADHA):c.1119A>G (p.Gly373=)
|
rs2147762370
|
|
|
NM_000182.5(HADHA):c.1125C>T (p.Gly375=)
|
|
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
|
NM_000182.5(HADHA):c.1131C>G (p.Ala377=)
|
|
|
|
NM_000182.5(HADHA):c.1137C>A (p.Val379=)
|
|
|
|
NM_000182.5(HADHA):c.1137C>G (p.Val379=)
|
rs1669919221
|
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
|
NM_000182.5(HADHA):c.1165del (p.Asp391fs)
|
|
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
|
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter)
|
rs1669918554
|
|
|
NM_000182.5(HADHA):c.1173T>C (p.Asp391=)
|
|
|
|
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
|
|
|
|
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn)
|
rs778263925
|
|
|
NM_000182.5(HADHA):c.1188G>A (p.Ala396=)
|
rs781338540
|
|
|
NM_000182.5(HADHA):c.1188G>T (p.Ala396=)
|
|
|
|
NM_000182.5(HADHA):c.1194C>T (p.Asp398=)
|
|
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
|
NM_000182.5(HADHA):c.1202del (p.Gln401fs)
|
rs1057517087
|
|
|
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter)
|
rs2147762267
|
|
|
NM_000182.5(HADHA):c.1209del (p.Val404fs)
|
|
|
|
NM_000182.5(HADHA):c.1220+10C>A
|
|
|
|
NM_000182.5(HADHA):c.1220+10CT[3]
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+17T>C
|
|
|
|
NM_000182.5(HADHA):c.1220+1G>T
|
|
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
|
NM_000182.5(HADHA):c.1220+9G>A
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>C
|
rs539814267
|
|
|
NM_000182.5(HADHA):c.1221-11G>T
|
|
|
|
NM_000182.5(HADHA):c.1221-1G>C
|
rs1057516233
|
|
|
NM_000182.5(HADHA):c.1221-2A>G
|
|
|
|
NM_000182.5(HADHA):c.1222T>C (p.Leu408=)
|
|
|
|
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
|
|
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
|
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
|
|
|
|
NM_000182.5(HADHA):c.1236G>T (p.Val412=)
|
|
|
|
NM_000182.5(HADHA):c.1242G>A (p.Lys414=)
|
rs781509327
|
|
|
NM_000182.5(HADHA):c.1248T>G (p.Ala416=)
|
rs769173885
|
|
|
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
|
|
|
|
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
|
|
|
|
NM_000182.5(HADHA):c.1266G>A (p.Arg422=)
|
|
|
|
NM_000182.5(HADHA):c.1290T>C (p.Thr430=)
|
|
|
|
NM_000182.5(HADHA):c.1319dup (p.Ala441fs)
|
rs2147759662
|
|
|
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
|
|
|
|
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer)
|
rs1057516734
|
|
|
NM_000182.5(HADHA):c.1350G>A (p.Glu450=)
|
|
|
|
NM_000182.5(HADHA):c.1351del (p.Asp451fs)
|
|
|
|
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
|
|
|
|
NM_000182.5(HADHA):c.1365G>A (p.Lys455=)
|
rs2147759599
|
|
|
NM_000182.5(HADHA):c.1368C>T (p.His456=)
|
|
|
|
NM_000182.5(HADHA):c.1392+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>C
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>G
|
|
|
|
NM_000182.5(HADHA):c.1392+15G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>T
|
|
|
|
NM_000182.5(HADHA):c.1392+19T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-10dup
|
rs2147756168
|
|
|
NM_000182.5(HADHA):c.1393-13T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-16T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-17dup
|
|
|
|
NM_000182.5(HADHA):c.1393-20T>A
|
|
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
|
NM_000182.5(HADHA):c.1413C>T (p.Ile471=)
|
|
|
|
NM_000182.5(HADHA):c.1419C>G (p.Ala473=)
|
|
|
|
NM_000182.5(HADHA):c.1422T>C (p.Ser474=)
|
rs2147756121
|
|
|
NM_000182.5(HADHA):c.1431T>G (p.Ser477=)
|
rs758130768
|
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
|
NM_000182.5(HADHA):c.1437C>T (p.Leu479=)
|
|
|
|
NM_000182.5(HADHA):c.1440A>C (p.Pro480=)
|
|
|
|
NM_000182.5(HADHA):c.1452C>A (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1452C>T (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1461C>A (p.Val487=)
|
|
|
|
NM_000182.5(HADHA):c.1476G>A (p.Glu492=)
|
|
|
|
NM_000182.5(HADHA):c.1479+12A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>T
|
|
|
|
NM_000182.5(HADHA):c.1479+17G>A
|
|
|
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
|
|
NM_000182.5(HADHA):c.1479+7T>A
|
rs1574605330
|
|
|
NM_000182.5(HADHA):c.1479+8C>A
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+8C>T
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+9_1479+25del
|
rs1325169012
|
|
|
NM_000182.5(HADHA):c.1480-10C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-12T>C
|
|
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
|
NM_000182.5(HADHA):c.1480-15G>T
|
|
|
|
NM_000182.5(HADHA):c.1480-1G>C
|
rs1558315590
|
|
|
NM_000182.5(HADHA):c.1480-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-8C>T
|
rs1574603649
|
|
|
NM_000182.5(HADHA):c.1482G>T (p.Val494=)
|
|
|
|
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs)
|
rs2147753741
|
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
|
NM_000182.5(HADHA):c.1497C>T (p.Tyr499=)
|
rs373104835
|
|
|
NM_000182.5(HADHA):c.1503T>G (p.Ser501=)
|
|
|
|
NM_000182.5(HADHA):c.1506C>T (p.Pro502=)
|
rs1477172372
|
|
|
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter)
|
rs1669632177
|
|
|
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
|
|
|
|
NM_000182.5(HADHA):c.1523del (p.Leu508fs)
|
rs754145990
|
|
|
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
|
rs137852769
|
|
|
NM_000182.5(HADHA):c.1533dup (p.Ile512fs)
|
|
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
|
NM_000182.5(HADHA):c.1539G>T (p.Thr513=)
|
rs755287314
|
|
|
NM_000182.5(HADHA):c.1540del (p.Thr514fs)
|
rs1478391725
|
|
|
NM_000182.5(HADHA):c.1542C>G (p.Thr514=)
|
rs374189575
|
|
|
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)
|
rs763353852
|
|
|
NM_000182.5(HADHA):c.1545G>A (p.Glu515=)
|
|
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
|
NM_000182.5(HADHA):c.1554C>G (p.Ser518=)
|
rs765162716
|
|
|
NM_000182.5(HADHA):c.1554del (p.Asp520fs)
|
rs2147753630
|
|
|
NM_000182.5(HADHA):c.1563C>T (p.Thr521=)
|
rs1574603522
|
|
|
NM_000182.5(HADHA):c.1566T>C (p.Ser522=)
|
rs2147753617
|
|
|
NM_000182.5(HADHA):c.1581A>C (p.Ala527=)
|
rs2147753600
|
|
|
NM_000182.5(HADHA):c.1584T>C (p.Val528=)
|
rs2147753595
|
|
|
NM_000182.5(HADHA):c.1590C>T (p.Leu530=)
|
rs1250337326
|
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
|
NM_000182.5(HADHA):c.1614G>A (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1614G>T (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
|
NM_000182.5(HADHA):c.1620+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+13A>G
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>C
|
|
|
|
NM_000182.5(HADHA):c.1620+1del
|
rs2147753555
|
|
|
NM_000182.5(HADHA):c.1620+20_1620+21del
|
rs1064794598
|
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
|
NM_000182.5(HADHA):c.1620+7G>A
|
rs2147753540
|
|
|
NM_000182.5(HADHA):c.1620+8dup
|
|
|
|
NM_000182.5(HADHA):c.1620+9C>T
|
rs772786562
|
|
|
NM_000182.5(HADHA):c.1621-18T>C
|
rs2147753134
|
|
|
NM_000182.5(HADHA):c.1621-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1621-8del
|
rs1558315187
|
|
|
NM_000182.5(HADHA):c.1623T>C (p.Asp541=)
|
|
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
|
|
|
NM_000182.5(HADHA):c.1638T>C (p.Tyr546=)
|
rs779881707
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
|
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)
|
rs1574603062
|
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
|
NM_000182.5(HADHA):c.1653_1668del (p.Ala552fs)
|
|
|
|
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)
|
|
|
|
NM_000182.5(HADHA):c.1654dup (p.Ala552fs)
|
rs2147753069
|
|
|
NM_000182.5(HADHA):c.1656G>T (p.Ala552=)
|
rs541069396
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
|
NM_000182.5(HADHA):c.1679G>A (p.Arg560Gln)
|
rs779324271
|
|
|
NM_000182.5(HADHA):c.1683C>T (p.Ile561=)
|
|
|
|
NM_000182.5(HADHA):c.1686C>G (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1686C>T (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1689+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1689+18G>C
|
|
|
|
NM_000182.5(HADHA):c.1689+19_1689+20del
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
|
NM_000182.5(HADHA):c.1689+8T>C
|
rs576886917
|
|
|
NM_000182.5(HADHA):c.1690-16A>C
|
|
|
|
NM_000182.5(HADHA):c.1690-16A>G
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>A
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1690-17_1690-2del
|
rs1669581856
|
|
|
NM_000182.5(HADHA):c.1690-19T>C
|
|
|
|
NM_000182.5(HADHA):c.1690-20C>G
|
|
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
|
NM_000182.5(HADHA):c.1707G>A (p.Lys569=)
|
rs2147752219
|
|
|
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.1729A>T (p.Ser577Cys)
|
|
|
|
NM_000182.5(HADHA):c.1731C>T (p.Ser577=)
|
rs1308806038
|
|
|
NM_000182.5(HADHA):c.1734T>C (p.Phe578=)
|
rs1343063543
|
|
|
NM_000182.5(HADHA):c.1743T>C (p.Pro581=)
|
rs1669579845
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
|
NM_000182.5(HADHA):c.1758A>G (p.Thr586=)
|
rs974621601
|
|
|
NM_000182.5(HADHA):c.1759C>T (p.Leu587=)
|
rs2147752154
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
|
NM_000182.5(HADHA):c.1761G>A (p.Leu587=)
|
|
|
|
NM_000182.5(HADHA):c.1770A>G (p.Glu590=)
|
rs2147752135
|
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
|
NM_000182.5(HADHA):c.1776T>C (p.Gly592=)
|
|
|
|
NM_000182.5(HADHA):c.1785A>T (p.Val595=)
|
rs2147752107
|
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
|
NM_000182.5(HADHA):c.1807C>T (p.Leu603=)
|
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
|
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)
|
rs1553312033
|
|
|
NM_000182.5(HADHA):c.1828C>A (p.Arg610=)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1830G>A (p.Arg610=)
|
|
|
|
NM_000182.5(HADHA):c.1833T>C (p.Phe611=)
|
|
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
|
NM_000182.5(HADHA):c.1854G>A (p.Leu618=)
|
|
|
|
NM_000182.5(HADHA):c.1857G>C (p.Leu619=)
|
|
|
|
NM_000182.5(HADHA):c.1863G>A (p.Gln621=)
|
rs1396271017
|
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
|
NM_000182.5(HADHA):c.1869G>A (p.Val623=)
|
rs2147751984
|
|
|
NM_000182.5(HADHA):c.1878C>T (p.Gly626=)
|
|
|
|
NM_000182.5(HADHA):c.1885+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1885+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1886-13T>G
|
|
|
|
NM_000182.5(HADHA):c.1886-14C>T
|
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18del
|
rs772436809
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18dup
|
|
|
|
NM_000182.5(HADHA):c.1886-7G>A
|
rs2147750524
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
|
NM_000182.5(HADHA):c.1890T>C (p.Arg630=)
|
rs1331075824
|
|
|
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
|
|
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
|
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
|
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
|
|
|
|
NM_000182.5(HADHA):c.1926T>C (p.Gly642=)
|
|
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
|
NM_000182.5(HADHA):c.1932G>A (p.Lys644=)
|
rs765574028
|
|
|
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)
|
|
|
|
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
|
|
|
|
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)
|
rs1553311804
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|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
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NM_000182.5(HADHA):c.1962T>C (p.Ser654=)
|
rs1669532360
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|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
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NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser)
|
rs374174659
|
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NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
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NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
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NM_000182.5(HADHA):c.1983G>A (p.Leu661=)
|
rs2147750371
|
|
|
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter)
|
rs757671025
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NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
|
NM_000182.5(HADHA):c.2000+1G>A
|
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NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
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NM_000182.5(HADHA):c.2000+5G>C
|
|
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|
NM_000182.5(HADHA):c.2000+9G>T
|
rs200802583
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|
NM_000182.5(HADHA):c.2001-10C>G
|
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|
NM_000182.5(HADHA):c.2001-10C>T
|
rs1463681982
|
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NM_000182.5(HADHA):c.2001-13T>C
|
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NM_000182.5(HADHA):c.2001-14C>T
|
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NM_000182.5(HADHA):c.2001-16C>G
|
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NM_000182.5(HADHA):c.2001-18A>G
|
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NM_000182.5(HADHA):c.2001-18_2001-16dup
|
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NM_000182.5(HADHA):c.2001-4G>A
|
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NM_000182.5(HADHA):c.2004A>T (p.Ser668=)
|
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|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
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NM_000182.5(HADHA):c.2010del (p.Asp670fs)
|
|
|
|
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
|
|
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|
NM_000182.5(HADHA):c.2019C>T (p.Ile673=)
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|
|
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter)
|
rs2147749450
|
|
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NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
|
|
|
NM_000182.5(HADHA):c.2026del (p.Arg676fs)
|
rs1553311716
|
|
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NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
|
|
|
|
NM_000182.5(HADHA):c.2059del (p.Met687fs)
|
rs1553311706
|
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
|
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
|
|
|
|
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)
|
|
|
|
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)
|
rs1057517132
|
|
|
NM_000182.5(HADHA):c.2073G>A (p.Glu691=)
|
rs2147749350
|
|
|
NM_000182.5(HADHA):c.2076G>T (p.Gly692=)
|
|
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
|
NM_000182.5(HADHA):c.2077del (p.Ile693fs)
|
|
|
|
NM_000182.5(HADHA):c.2081del (p.Leu694fs)
|
|
|
|
NM_000182.5(HADHA):c.2085C>T (p.Ala695=)
|
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
|
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)
|
|
|
|
NM_000182.5(HADHA):c.2091T>G (p.Pro697=)
|
rs2147749333
|
|
|
NM_000182.5(HADHA):c.2094A>G (p.Ala698=)
|
rs757938383
|
|
|
NM_000182.5(HADHA):c.2100A>G (p.Gly700=)
|
|
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
|
NM_000182.5(HADHA):c.2109A>G (p.Gly703=)
|
|
|
|
NM_000182.5(HADHA):c.2127C>G (p.Gly709=)
|
|
|
|
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)
|
rs138966725
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
|
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs)
|
rs1669501514
|
|
|
NM_000182.5(HADHA):c.2146+12A>G
|
|
|
|
NM_000182.5(HADHA):c.2146+17G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
|
NM_000182.5(HADHA):c.2146+20A>C
|
|
|
|
NM_000182.5(HADHA):c.2146+2T>C
|
rs1057516350
|
|
|
NM_000182.5(HADHA):c.2146+9C>A
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>G
|
|
|
|
NM_000182.5(HADHA):c.2147-10C>A
|
|
|
|
NM_000182.5(HADHA):c.2147-12_2147-11del
|
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
|
NM_000182.5(HADHA):c.2147-5T>C
|
rs2147748983
|
|
|
NM_000182.5(HADHA):c.2147-7_2147-6insGA
|
rs767103938
|
|
|
NM_000182.5(HADHA):c.2147-8C>T
|
|
|
|
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
|
|
|
|
NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)
|
|
|
|
NM_000182.5(HADHA):c.2178C>T (p.Ala726=)
|
|
|
|
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)
|
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
|
NM_000182.5(HADHA):c.2193C>T (p.Asp731=)
|
|
|
|
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)
|
|
|
|
NM_000182.5(HADHA):c.2194C>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
|
NM_000182.5(HADHA):c.2196G>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2198T>C (p.Leu733Pro)
|
rs2147748812
|
|
|
NM_000182.5(HADHA):c.2199C>T (p.Leu733=)
|
|
|
|
NM_000182.5(HADHA):c.2202G>A (p.Lys734=)
|
rs2147748806
|
|
|
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)
|
rs774114061
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
|
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.2229_2233dup (p.Thr745fs)
|
|
|
|
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
|
|
|
|
NM_000182.5(HADHA):c.2235C>T (p.Thr745=)
|
|
|
|
NM_000182.5(HADHA):c.2241C>T (p.Cys747=)
|
|
|
|
NM_000182.5(HADHA):c.2259T>C (p.His753=)
|
rs1669489360
|
|
|
NM_000182.5(HADHA):c.2262T>C (p.Ala754=)
|
rs1423314926
|
|
|
NM_000182.5(HADHA):c.2265C>T (p.Asn755=)
|
rs2147748705
|
|
|
NM_000182.5(HADHA):c.2268C>T (p.Ser756=)
|
|
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
|
NM_000182.5(HADHA):c.2283C>T (p.Phe761=)
|
|
|
|
NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)
|
rs2147748660
|
|
|
NM_000182.5(HADHA):c.2289G>A (p.Gln763=)
|
|
|
|
NM_000182.5(HADHA):c.2291G>A (p.Ter764=)
|
|
|