NM_018127.7(ELAC2):c.1305-8T>C
|
rs3760316
|
0.32355
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_018127.7(ELAC2):c.297-11T>C
|
rs58809197
|
0.27292
|
NM_018127.7(ELAC2):c.1218+15C>T
|
rs55825263
|
0.26965
|
NM_018127.7(ELAC2):c.1304+17A>T
|
rs55674356
|
0.26960
|
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)
|
rs17552022
|
0.08581
|
NM_018127.7(ELAC2):c.491-14T>C
|
rs74556312
|
0.08556
|
NM_018127.7(ELAC2):c.798-20G>T
|
rs77528900
|
0.03735
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)
|
rs7217826
|
0.02093
|
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)
|
rs77972324
|
0.01451
|
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)
|
rs140335642
|
0.00771
|
NM_018127.7(ELAC2):c.368-4T>A
|
rs139778647
|
0.00657
|
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC
|
rs370493014
|
0.00515
|
NM_018127.7(ELAC2):c.560-2A>G
|
rs149733287
|
0.00275
|
NM_018127.7(ELAC2):c.174G>A (p.Val58=)
|
rs2286334
|
0.00196
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup)
|
rs1555571246
|
0.00144
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg)
|
rs544551424
|
0.00047
|
NM_018127.7(ELAC2):c.159C>T (p.Gly53=)
|
rs200251607
|
0.00045
|
NM_018127.7(ELAC2):c.1218+16G>A
|
rs201351764
|
0.00044
|
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)
|
rs117582762
|
0.00041
|
NM_018127.7(ELAC2):c.9G>C (p.Ala3=)
|
rs764509473
|
0.00036
|
NM_018127.7(ELAC2):c.2376G>A (p.Ala792=)
|
rs180717697
|
0.00034
|
NM_018127.7(ELAC2):c.1659G>A (p.Thr553=)
|
rs200420215
|
0.00032
|
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=)
|
rs140487151
|
0.00028
|
NM_018127.7(ELAC2):c.1740C>T (p.Ala580=)
|
rs148050183
|
0.00027
|
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp)
|
rs200149324
|
0.00026
|
NM_018127.7(ELAC2):c.367+7A>G
|
rs113628680
|
0.00025
|
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)
|
rs149544601
|
0.00024
|
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=)
|
rs201700166
|
0.00022
|
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met)
|
rs149561185
|
0.00020
|
NM_018127.7(ELAC2):c.195G>A (p.Ala65=)
|
rs377291764
|
0.00019
|
NM_018127.7(ELAC2):c.739-18A>G
|
rs376224310
|
0.00019
|
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys)
|
rs374954001
|
0.00017
|
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val)
|
rs767378629
|
0.00016
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln)
|
rs148419785
|
0.00016
|
NM_018127.7(ELAC2):c.1304+13T>C
|
rs777881145
|
0.00015
|
NM_018127.7(ELAC2):c.1080-8C>A
|
rs201721293
|
0.00014
|
NM_018127.7(ELAC2):c.1283G>A (p.Arg428His)
|
rs376713626
|
0.00014
|
NM_018127.7(ELAC2):c.1458T>C (p.Leu486=)
|
rs150347734
|
0.00014
|
NM_018127.7(ELAC2):c.291G>A (p.Glu97=)
|
rs748123262
|
0.00014
|
NM_018127.7(ELAC2):c.600A>G (p.Pro200=)
|
rs142521572
|
0.00014
|
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile)
|
rs373125478
|
0.00013
|
NM_018127.7(ELAC2):c.351T>C (p.Asn117=)
|
rs146877290
|
0.00011
|
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala)
|
rs377463613
|
0.00011
|
NM_018127.7(ELAC2):c.1423+13C>T
|
rs552514338
|
0.00010
|
NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val)
|
rs761881914
|
0.00010
|
NM_018127.7(ELAC2):c.156C>T (p.Ser52=)
|
rs375941310
|
0.00009
|
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val)
|
rs375606970
|
0.00009
|
NM_018127.7(ELAC2):c.1304+15G>C
|
rs373732738
|
0.00008
|
NM_018127.7(ELAC2):c.489G>A (p.Leu163=)
|
rs767752385
|
0.00008
|
NM_018127.7(ELAC2):c.834C>T (p.Val278=)
|
rs138869157
|
0.00008
|
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg)
|
rs764718787
|
0.00007
|
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)
|
rs762471494
|
0.00007
|
NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser)
|
rs147779718
|
0.00007
|
NM_018127.7(ELAC2):c.666A>G (p.Pro222=)
|
rs772199691
|
0.00007
|
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=)
|
rs375565327
|
0.00006
|
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser)
|
rs1217149676
|
0.00006
|
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu)
|
rs78105154
|
0.00006
|
NM_018127.7(ELAC2):c.1908+5G>A
|
rs753540327
|
0.00006
|
NM_018127.7(ELAC2):c.2009del (p.Cys670fs)
|
rs761385155
|
0.00006
|
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=)
|
rs747104908
|
0.00006
|
NM_018127.7(ELAC2):c.700G>A (p.Val234Ile)
|
rs142803912
|
0.00006
|
NM_018127.7(ELAC2):c.840C>T (p.Asp280=)
|
rs369092504
|
0.00006
|
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu)
|
rs771550822
|
0.00006
|
NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys)
|
rs543132773
|
0.00005
|
NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys)
|
rs376277988
|
0.00005
|
NM_018127.7(ELAC2):c.2319C>T (p.Gly773=)
|
rs550032568
|
0.00005
|
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=)
|
rs777147755
|
0.00005
|
NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr)
|
rs750475807
|
0.00005
|
NM_018127.7(ELAC2):c.715C>T (p.Leu239=)
|
rs377338076
|
0.00005
|
NM_018127.7(ELAC2):c.738+17G>A
|
rs761089421
|
0.00005
|
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr)
|
rs765353090
|
0.00005
|
NM_018127.7(ELAC2):c.983+9G>A
|
rs760385942
|
0.00005
|
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His)
|
rs373534638
|
0.00004
|
NM_018127.7(ELAC2):c.1142G>A (p.Arg381His)
|
rs756803645
|
0.00004
|
NM_018127.7(ELAC2):c.1378G>A (p.Val460Met)
|
rs775449483
|
0.00004
|
NM_018127.7(ELAC2):c.1424-16A>G
|
rs149112672
|
0.00004
|
NM_018127.7(ELAC2):c.1424-17C>T
|
rs755064409
|
0.00004
|
NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe)
|
rs777786097
|
0.00004
|
NM_018127.7(ELAC2):c.1554G>A (p.Glu518=)
|
rs377407616
|
0.00004
|
NM_018127.7(ELAC2):c.1992C>T (p.Ser664=)
|
rs746289536
|
0.00004
|
NM_018127.7(ELAC2):c.2108+14G>A
|
rs199942266
|
0.00004
|
NM_018127.7(ELAC2):c.2109-9C>T
|
rs770917844
|
0.00004
|
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala)
|
rs199998904
|
0.00004
|
NM_018127.7(ELAC2):c.240C>T (p.Phe80=)
|
rs764484752
|
0.00004
|
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=)
|
rs773456696
|
0.00004
|
NM_018127.7(ELAC2):c.296+9G>A
|
rs1472556568
|
0.00004
|
NM_018127.7(ELAC2):c.311G>A (p.Arg104His)
|
rs201871417
|
0.00004
|
NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp)
|
rs781676615
|
0.00004
|
NM_018127.7(ELAC2):c.369A>G (p.Gly123=)
|
rs143942145
|
0.00004
|
NM_018127.7(ELAC2):c.387G>A (p.Lys129=)
|
rs367828554
|
0.00004
|
NM_018127.7(ELAC2):c.871-20G>A
|
rs766710377
|
0.00004
|
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met)
|
rs370476174
|
0.00003
|
NM_018127.7(ELAC2):c.1079+13G>C
|
rs200797227
|
0.00003
|
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr)
|
rs1404085657
|
0.00003
|
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu)
|
rs1347935204
|
0.00003
|
NM_018127.7(ELAC2):c.1423+8G>A
|
rs763673924
|
0.00003
|
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala)
|
rs149210630
|
0.00003
|
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=)
|
rs772549996
|
0.00003
|
NM_018127.7(ELAC2):c.1525G>A (p.Asp509Asn)
|
rs149866327
|
0.00003
|
NM_018127.7(ELAC2):c.1576C>T (p.Arg526Cys)
|
rs760945874
|
0.00003
|
NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=)
|
rs772070282
|
0.00003
|
NM_018127.7(ELAC2):c.1659+13del
|
rs753964584
|
0.00003
|
NM_018127.7(ELAC2):c.1660-5G>A
|
rs931276557
|
0.00003
|
NM_018127.7(ELAC2):c.1701A>G (p.Ala567=)
|
rs898456068
|
0.00003
|
NM_018127.7(ELAC2):c.1858G>A (p.Ala620Thr)
|
rs960361937
|
0.00003
|
NM_018127.7(ELAC2):c.2108+13G>A
|
rs190562664
|
0.00003
|
NM_018127.7(ELAC2):c.2115G>A (p.Thr705=)
|
rs755866051
|
0.00003
|
NM_018127.7(ELAC2):c.2169C>T (p.Asn723=)
|
rs781475188
|
0.00003
|
NM_018127.7(ELAC2):c.2220C>T (p.Ser740=)
|
rs140626107
|
0.00003
|
NM_018127.7(ELAC2):c.222C>G (p.Leu74=)
|
rs373242425
|
0.00003
|
NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln)
|
rs148819805
|
0.00003
|
NM_018127.7(ELAC2):c.35C>T (p.Ala12Val)
|
rs111252262
|
0.00003
|
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg)
|
rs374005835
|
0.00003
|
NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys)
|
rs779607134
|
0.00003
|
NM_018127.7(ELAC2):c.46A>G (p.Met16Val)
|
rs533396669
|
0.00003
|
NM_018127.7(ELAC2):c.559+17G>C
|
rs765765916
|
0.00003
|
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser)
|
rs779111320
|
0.00003
|
NM_018127.7(ELAC2):c.679+9A>G
|
rs756430924
|
0.00003
|
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr)
|
rs1184764865
|
0.00003
|
NM_018127.7(ELAC2):c.871-17C>T
|
rs373231098
|
0.00003
|
NM_018127.7(ELAC2):c.983+10G>A
|
rs552626383
|
0.00003
|
NM_018127.7(ELAC2):c.1008C>T (p.Pro336=)
|
rs769647706
|
0.00002
|
NM_018127.7(ELAC2):c.1080-20C>T
|
rs371507910
|
0.00002
|
NM_018127.7(ELAC2):c.120G>T (p.Leu40=)
|
rs368781017
|
0.00002
|
NM_018127.7(ELAC2):c.1351C>A (p.Leu451Met)
|
rs761514025
|
0.00002
|
NM_018127.7(ELAC2):c.144G>A (p.Pro48=)
|
rs1231034298
|
0.00002
|
NM_018127.7(ELAC2):c.1490G>A (p.Arg497Gln)
|
rs531523727
|
0.00002
|
NM_018127.7(ELAC2):c.1577G>A (p.Arg526His)
|
rs775698705
|
0.00002
|
NM_018127.7(ELAC2):c.1613C>G (p.Thr538Ser)
|
rs770299965
|
0.00002
|
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=)
|
rs539598982
|
0.00002
|
NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr)
|
rs757284769
|
0.00002
|
NM_018127.7(ELAC2):c.1743C>T (p.Pro581=)
|
rs1838655732
|
0.00002
|
NM_018127.7(ELAC2):c.1956G>A (p.Ala652=)
|
rs776752737
|
0.00002
|
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val)
|
rs1003043105
|
0.00002
|
NM_018127.7(ELAC2):c.2030-2A>G
|
rs1033730754
|
0.00002
|
NM_018127.7(ELAC2):c.2109-17C>G
|
rs1053943347
|
0.00002
|
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=)
|
rs773995732
|
0.00002
|
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln)
|
rs567494102
|
0.00002
|
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=)
|
rs144228112
|
0.00002
|
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)
|
rs767611235
|
0.00002
|
NM_018127.7(ELAC2):c.245+19C>A
|
rs1037457378
|
0.00002
|
NM_018127.7(ELAC2):c.293A>G (p.His98Arg)
|
rs1471918559
|
0.00002
|
NM_018127.7(ELAC2):c.393C>T (p.Thr131=)
|
rs747138055
|
0.00002
|
NM_018127.7(ELAC2):c.39A>T (p.Gly13=)
|
rs906248515
|
0.00002
|
NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu)
|
rs139453392
|
0.00002
|
NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser)
|
rs755308728
|
0.00002
|
NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg)
|
rs779337966
|
0.00002
|
NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr)
|
rs934103595
|
0.00002
|
NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp)
|
rs746132751
|
0.00002
|
NM_018127.7(ELAC2):c.721G>A (p.Val241Ile)
|
rs766704172
|
0.00002
|
NM_018127.7(ELAC2):c.797+9G>T
|
rs762820869
|
0.00002
|
NM_018127.7(ELAC2):c.798-13C>G
|
rs371733501
|
0.00002
|
NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg)
|
rs147215643
|
0.00002
|
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val)
|
rs1273371887
|
0.00002
|
NM_018127.7(ELAC2):c.983+14T>A
|
rs758970515
|
0.00002
|
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)
|
rs387906327
|
0.00001
|
NM_018127.7(ELAC2):c.1004C>T (p.Ala335Val)
|
rs187079048
|
0.00001
|
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp)
|
rs757575765
|
0.00001
|
NM_018127.7(ELAC2):c.1080-12G>A
|
rs1447133657
|
0.00001
|
NM_018127.7(ELAC2):c.1080-17G>C
|
rs772301440
|
0.00001
|
NM_018127.7(ELAC2):c.1080-19C>T
|
rs763737021
|
0.00001
|
NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met)
|
rs752533400
|
0.00001
|
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=)
|
rs1057521455
|
0.00001
|
NM_018127.7(ELAC2):c.1218+20C>T
|
rs1367660839
|
0.00001
|
NM_018127.7(ELAC2):c.1227C>T (p.Gly409=)
|
rs138100769
|
0.00001
|
NM_018127.7(ELAC2):c.1257T>G (p.Gly419=)
|
rs2040855188
|
0.00001
|
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter)
|
rs1308121771
|
0.00001
|
NM_018127.7(ELAC2):c.127C>A (p.Arg43=)
|
rs1598280966
|
0.00001
|
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys)
|
rs775958815
|
0.00001
|
NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg)
|
rs1285444804
|
0.00001
|
NM_018127.7(ELAC2):c.1305-10C>T
|
rs771858858
|
0.00001
|
NM_018127.7(ELAC2):c.1305-2A>G
|
rs779254943
|
0.00001
|
NM_018127.7(ELAC2):c.1323C>G (p.Cys441Trp)
|
rs1567751438
|
0.00001
|
NM_018127.7(ELAC2):c.132G>A (p.Glu44=)
|
rs933215096
|
0.00001
|
NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg)
|
rs745328310
|
0.00001
|
NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys)
|
rs2041835898
|
0.00001
|
NM_018127.7(ELAC2):c.1375A>G (p.Ser459Gly)
|
rs760132087
|
0.00001
|
NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val)
|
rs749460308
|
0.00001
|
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter)
|
rs138114191
|
0.00001
|
NM_018127.7(ELAC2):c.1436A>G (p.Gln479Arg)
|
rs1165336639
|
0.00001
|
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala)
|
rs1474253067
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu)
|
rs1235154753
|
0.00001
|
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=)
|
rs766476173
|
0.00001
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
NM_018127.7(ELAC2):c.1524C>T (p.Pro508=)
|
rs746298894
|
0.00001
|
NM_018127.7(ELAC2):c.1530G>A (p.Thr510=)
|
rs202041978
|
0.00001
|
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr)
|
rs1240684251
|
0.00001
|
NM_018127.7(ELAC2):c.1608G>A (p.Leu536=)
|
rs773774169
|
0.00001
|
NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val)
|
rs753617499
|
0.00001
|
NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met)
|
rs755904309
|
0.00001
|
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly)
|
rs920039553
|
0.00001
|
NM_018127.7(ELAC2):c.1680G>A (p.Leu560=)
|
rs1204658530
|
0.00001
|
NM_018127.7(ELAC2):c.1686A>G (p.Arg562=)
|
rs376766610
|
0.00001
|
NM_018127.7(ELAC2):c.1698+18T>G
|
rs773809126
|
0.00001
|
NM_018127.7(ELAC2):c.1699-19C>G
|
rs371530852
|
0.00001
|
NM_018127.7(ELAC2):c.1699-20A>G
|
rs1489448575
|
0.00001
|
NM_018127.7(ELAC2):c.1722C>T (p.His574=)
|
rs770617287
|
0.00001
|
NM_018127.7(ELAC2):c.1728G>C (p.Leu576Phe)
|
rs2040437747
|
0.00001
|
NM_018127.7(ELAC2):c.178C>T (p.Leu60=)
|
rs1266677255
|
0.00001
|
NM_018127.7(ELAC2):c.1808+15C>T
|
rs930358086
|
0.00001
|
NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val)
|
rs913207452
|
0.00001
|
NM_018127.7(ELAC2):c.1876A>G (p.Ser626Gly)
|
rs745680653
|
0.00001
|
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter)
|
rs781680309
|
0.00001
|
NM_018127.7(ELAC2):c.1915A>G (p.Thr639Ala)
|
rs758792385
|
0.00001
|
NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp)
|
rs373464578
|
0.00001
|
NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys)
|
rs781379178
|
0.00001
|
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg)
|
rs777258865
|
0.00001
|
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=)
|
rs780790017
|
0.00001
|
NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys)
|
rs754567726
|
0.00001
|
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=)
|
rs200759780
|
0.00001
|
NM_018127.7(ELAC2):c.2020G>A (p.Val674Ile)
|
rs750302074
|
0.00001
|
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)
|
rs1157458251
|
0.00001
|
NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln)
|
rs765368974
|
0.00001
|
NM_018127.7(ELAC2):c.2030-6C>T
|
rs548603402
|
0.00001
|
NM_018127.7(ELAC2):c.2076T>G (p.Gly692=)
|
rs577239094
|
0.00001
|
NM_018127.7(ELAC2):c.2108+12C>T
|
rs757853122
|
0.00001
|
NM_018127.7(ELAC2):c.2109-19C>G
|
rs893950337
|
0.00001
|
NM_018127.7(ELAC2):c.2112A>G (p.Thr704=)
|
rs998359804
|
0.00001
|
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=)
|
rs752923351
|
0.00001
|
NM_018127.7(ELAC2):c.2131G>A (p.Val711Met)
|
rs560136994
|
0.00001
|
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=)
|
rs759078534
|
0.00001
|
NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr)
|
rs796103645
|
0.00001
|
NM_018127.7(ELAC2):c.2163G>T (p.Met721Ile)
|
rs769609689
|
0.00001
|
NM_018127.7(ELAC2):c.2249T>G (p.Met750Arg)
|
rs769686385
|
0.00001
|
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys)
|
rs137859574
|
0.00001
|
NM_018127.7(ELAC2):c.2254-11G>A
|
rs553919919
|
0.00001
|
NM_018127.7(ELAC2):c.2254-5T>G
|
rs922658791
|
0.00001
|
NM_018127.7(ELAC2):c.2254-8T>C
|
rs186366777
|
0.00001
|
NM_018127.7(ELAC2):c.226G>A (p.Val76Ile)
|
rs377073548
|
0.00001
|
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser)
|
rs779668862
|
0.00001
|
NM_018127.7(ELAC2):c.2295C>G (p.Pro765=)
|
rs371543722
|
0.00001
|
NM_018127.7(ELAC2):c.22C>T (p.Leu8=)
|
rs754652199
|
0.00001
|
NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr)
|
rs774664159
|
0.00001
|
NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys)
|
rs770865114
|
0.00001
|
NM_018127.7(ELAC2):c.2370G>A (p.Val790=)
|
rs143840985
|
0.00001
|
NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu)
|
rs1187954440
|
0.00001
|
NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu)
|
rs922510869
|
0.00001
|
NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del)
|
rs1377575423
|
0.00001
|
NM_018127.7(ELAC2):c.245+17C>A
|
rs754772263
|
0.00001
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter)
|
rs1439706479
|
0.00001
|
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe)
|
rs376515152
|
0.00001
|
NM_018127.7(ELAC2):c.24G>A (p.Leu8=)
|
rs1598281471
|
0.00001
|
NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg)
|
rs753052433
|
0.00001
|
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile)
|
rs750042259
|
0.00001
|
NM_018127.7(ELAC2):c.297-4T>C
|
rs376806455
|
0.00001
|
NM_018127.7(ELAC2):c.303G>A (p.Lys101=)
|
rs777807535
|
0.00001
|
NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys)
|
rs748205884
|
0.00001
|
NM_018127.7(ELAC2):c.357G>A (p.Gly119=)
|
rs376498988
|
0.00001
|
NM_018127.7(ELAC2):c.361T>C (p.Leu121=)
|
rs200893345
|
0.00001
|
NM_018127.7(ELAC2):c.368-11A>G
|
rs750133002
|
0.00001
|
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile)
|
rs765484266
|
0.00001
|
NM_018127.7(ELAC2):c.432+15A>C
|
rs754403836
|
0.00001
|
NM_018127.7(ELAC2):c.432+18C>T
|
rs779908196
|
0.00001
|
NM_018127.7(ELAC2):c.432+1G>A
|
rs769454280
|
0.00001
|
NM_018127.7(ELAC2):c.433-5A>G
|
rs373498430
|
0.00001
|
NM_018127.7(ELAC2):c.45C>T (p.Thr15=)
|
rs551832115
|
0.00001
|
NM_018127.7(ELAC2):c.491-6T>C
|
rs755040798
|
0.00001
|
NM_018127.7(ELAC2):c.495G>A (p.Val165=)
|
rs751671002
|
0.00001
|
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu)
|
rs765096739
|
0.00001
|
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser)
|
rs775086832
|
0.00001
|
NM_018127.7(ELAC2):c.537A>C (p.Thr179=)
|
rs755930395
|
0.00001
|
NM_018127.7(ELAC2):c.546G>C (p.Gln182His)
|
rs747959167
|
0.00001
|
NM_018127.7(ELAC2):c.559+16A>G
|
rs1449825249
|
0.00001
|
NM_018127.7(ELAC2):c.560-10T>C
|
rs1318229217
|
0.00001
|
NM_018127.7(ELAC2):c.582C>T (p.His194=)
|
rs764486912
|
0.00001
|
NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn)
|
rs1392434007
|
0.00001
|
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter)
|
rs761881815
|
0.00001
|
NM_018127.7(ELAC2):c.651G>A (p.Ser217=)
|
rs201530031
|
0.00001
|
NM_018127.7(ELAC2):c.668A>G (p.His223Arg)
|
rs745937151
|
0.00001
|
NM_018127.7(ELAC2):c.677A>G (p.His226Arg)
|
rs757735135
|
0.00001
|
NM_018127.7(ELAC2):c.680-11T>G
|
rs1367528939
|
0.00001
|
NM_018127.7(ELAC2):c.69G>T (p.Ser23=)
|
rs1299982871
|
0.00001
|
NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly)
|
rs1567767157
|
0.00001
|
NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro)
|
rs750047784
|
0.00001
|
NM_018127.7(ELAC2):c.738+7A>C
|
rs767269129
|
0.00001
|
NM_018127.7(ELAC2):c.738+9G>C
|
rs188872129
|
0.00001
|
NM_018127.7(ELAC2):c.739-11C>T
|
rs919712707
|
0.00001
|
NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys)
|
rs763864314
|
0.00001
|
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter)
|
rs767879725
|
0.00001
|
NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr)
|
rs771897223
|
0.00001
|
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala)
|
rs188256643
|
0.00001
|
NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp)
|
rs1305210872
|
0.00001
|
NM_018127.7(ELAC2):c.983+6G>C
|
rs1288953158
|
0.00001
|
NM_018127.7(ELAC2):c.984-18C>A
|
rs1382193290
|
0.00001
|
NC_000017.10:g.(?_12896135)_(12909316_?)dup
|
|
|
NC_000017.10:g.(?_12896135)_(12921264_?)del
|
|
|
NC_000017.10:g.(?_12896135)_(12921264_?)dup
|
|
|
NC_000017.10:g.(?_12896201)_(12896263_?)dup
|
|
|
NC_000017.10:g.(?_12920159)_(12920458_?)del
|
|
|
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
|
|
|
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser)
|
rs565351884
|
|
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
|
|
|
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=)
|
rs2143613110
|
|
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del)
|
rs1344475140
|
|
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
|
|
|
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
|
|
|
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg)
|
rs2143612955
|
|
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
|
|
|
NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)
|
|
|
NM_018127.7(ELAC2):c.1048G>A (p.Val350Met)
|
rs2143612862
|
|
NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly)
|
rs2143612845
|
|
NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)
|
|
|
NM_018127.7(ELAC2):c.1053C>G (p.Asp351Glu)
|
rs991150757
|
|
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
|
|
|
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
|
|
|
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
|
|
|
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
|
|
|
NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)
|
|
|
NM_018127.7(ELAC2):c.1079+19C>T
|
|
|
NM_018127.7(ELAC2):c.1079+20G>A
|
|
|
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
|
|
|
NM_018127.7(ELAC2):c.1080-16dup
|
|
|
NM_018127.7(ELAC2):c.1080-18G>A
|
rs775647349
|
|
NM_018127.7(ELAC2):c.1080-19C>G
|
|
|
NM_018127.7(ELAC2):c.1080-1G>C
|
rs2143607002
|
|
NM_018127.7(ELAC2):c.1080-20C>A
|
|
|
NM_018127.7(ELAC2):c.1080-3C>T
|
rs538756575
|
|
NM_018127.7(ELAC2):c.1080-5C>T
|
|
|
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
|
|
|
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile)
|
rs1000361851
|
|
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
|
|
|
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val)
|
rs2143606789
|
|
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
|
|
|
NM_018127.7(ELAC2):c.1120_1121delinsCT (p.Cys374Leu)
|
rs2143606682
|
|
NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe)
|
rs1411516008
|
|
NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)
|
|
|
NM_018127.7(ELAC2):c.1147C>A (p.His383Asn)
|
rs187129692
|
|
NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)
|
|
|
NM_018127.7(ELAC2):c.1163A>G (p.Gln388Arg)
|
rs759815679
|
|
NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)
|
|
|
NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)
|
|
|
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
|
|
|
NM_018127.7(ELAC2):c.117C>A (p.His39Gln)
|
rs748570371
|
|
NM_018127.7(ELAC2):c.117C>T (p.His39=)
|
|
|
NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)
|
|
|
NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)
|
|
|
NM_018127.7(ELAC2):c.1186A>T (p.Ile396Phe)
|
rs149544601
|
|
NM_018127.7(ELAC2):c.1189T>C (p.Phe397Leu)
|
rs2143606118
|
|
NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)
|
|
|
NM_018127.7(ELAC2):c.1191C>T (p.Phe397=)
|
rs1167915234
|
|
NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)
|
|
|
NM_018127.7(ELAC2):c.120G>A (p.Leu40=)
|
rs368781017
|
|
NM_018127.7(ELAC2):c.1211G>A (p.Arg404His)
|
rs200565641
|
|
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu)
|
rs200565641
|
|
NM_018127.7(ELAC2):c.1212C>T (p.Arg404=)
|
rs2143605832
|
|
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
|
|
|
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
|
|
|
NM_018127.7(ELAC2):c.1218+19C>T
|
|
|
NM_018127.7(ELAC2):c.1218+5T>C
|
rs1365154419
|
|
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=)
|
rs777546567
|
|
NM_018127.7(ELAC2):c.1219-12T>C
|
|
|
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
|
|
|
NM_018127.7(ELAC2):c.1237A>T (p.Ser413Cys)
|
rs754722229
|
|
NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn)
|
rs1446980653
|
|
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
|
|
|
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
|
|
|
NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)
|
|
|
NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)
|
|
|
NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)
|
|
|
NM_018127.7(ELAC2):c.1264C>T (p.Leu422Phe)
|
rs1311991142
|
|
NM_018127.7(ELAC2):c.1266C>G (p.Leu422=)
|
rs764718395
|
|
NM_018127.7(ELAC2):c.126G>C (p.Thr42=)
|
|
|
NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)
|
|
|
NM_018127.7(ELAC2):c.1278G>A (p.Gln426=)
|
rs1360216860
|
|
NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)
|
|
|
NM_018127.7(ELAC2):c.12T>C (p.Leu4=)
|
|
|
NM_018127.7(ELAC2):c.1304+15G>A
|
|
|
NM_018127.7(ELAC2):c.1304+9C>T
|
|
|
NM_018127.7(ELAC2):c.1305-11_1305-8del
|
|
|
NM_018127.7(ELAC2):c.1305-12C>G
|
|
|
NM_018127.7(ELAC2):c.1305-12C>T
|
rs779858810
|
|
NM_018127.7(ELAC2):c.1305-14C>T
|
|
|
NM_018127.7(ELAC2):c.1305-20G>A
|
|
|
NM_018127.7(ELAC2):c.1305-6dup
|
rs200410915
|
|
NM_018127.7(ELAC2):c.1305-8_1305-7insTC
|
|
|
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC
|
rs201830045
|
|
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser)
|
rs1205360358
|
|
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
|
|
|
NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)
|
|
|
NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)
|
|
|
NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr)
|
rs745328310
|
|
NM_018127.7(ELAC2):c.1373A>G (p.Gln458Arg)
|
rs1567751319
|
|
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=)
|
rs1337946720
|
|
NM_018127.7(ELAC2):c.1385A>C (p.Glu462Ala)
|
rs1310120837
|
|
NM_018127.7(ELAC2):c.1392GAG[1] (p.Arg465del)
|
rs758221167
|
|
NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)
|
|
|
NM_018127.7(ELAC2):c.1401G>A (p.Ala467=)
|
rs146858023
|
|
NM_018127.7(ELAC2):c.1401G>T (p.Ala467=)
|
rs146858023
|
|
NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)
|
|
|
NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)
|
|
|
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
|
|
|
NM_018127.7(ELAC2):c.141A>G (p.Gly47=)
|
rs1240011554
|
|
NM_018127.7(ELAC2):c.1423+11G>T
|
|
|
NM_018127.7(ELAC2):c.1423+19A>G
|
|
|
NM_018127.7(ELAC2):c.1423+9G>T
|
|
|
NM_018127.7(ELAC2):c.1424-12A>G
|
|
|
NM_018127.7(ELAC2):c.1424-3C>T
|
rs878855048
|
|
NM_018127.7(ELAC2):c.1424-5dup
|
|
|
NM_018127.7(ELAC2):c.1424-6del
|
rs2040589080
|
|
NM_018127.7(ELAC2):c.1424-6dup
|
|
|
NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del)
|
rs779224899
|
|
NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)
|
|
|
NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)
|
|
|
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
|
|
|
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
|
|
|
NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)
|
|
|
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
|
|
|
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
|
|
|
NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro)
|
rs1555584447
|
|
NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)
|
|
|
NM_018127.7(ELAC2):c.1463C>T (p.Thr488Ile)
|
rs931963687
|
|
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
|
|
|
NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)
|
|
|
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
|
|
|
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=)
|
rs140335642
|
|
NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)
|
|
|
NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)
|
|
|
NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg)
|
rs2041834237
|
|
NM_018127.7(ELAC2):c.1520+7T>C
|
|
|
NM_018127.7(ELAC2):c.1520+9C>T
|
|
|
NM_018127.7(ELAC2):c.1521-2A>G
|
|
|
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
|
|
|
NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr)
|
rs970054118
|
|
NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro)
|
rs755823018
|
|
NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)
|
|
|
NM_018127.7(ELAC2):c.1559_1560inv (p.Thr520Met)
|
|
|
NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr)
|
rs9895963
|
|
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)
|
rs9895963
|
|
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)
|
rs9895963
|
|
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)
|
rs11545302
|
|
NM_018127.7(ELAC2):c.1560A>T (p.Thr520=)
|
|
|
NM_018127.7(ELAC2):c.1563T>G (p.Phe521Leu)
|
rs761488832
|
|
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter)
|
rs2040486497
|
|
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
|
|
|
NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys)
|
rs1598280792
|
|
NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg)
|
rs1567746262
|
|
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
|
|
|
NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)
|
|
|
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
|
|
|
NM_018127.7(ELAC2):c.162C>G (p.Gly54=)
|
rs2143697041
|
|
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
|
|
|
NM_018127.7(ELAC2):c.1638C>T (p.His546=)
|
rs1489337164
|
|
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
|
|
|
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=)
|
rs1598205310
|
|
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
|
|
|
NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)
|
|
|
NM_018127.7(ELAC2):c.1651C>A (p.His551Asn)
|
rs1487812489
|
|
NM_018127.7(ELAC2):c.1659+12G>C
|
|
|
NM_018127.7(ELAC2):c.1659+12G>T
|
|
|
NM_018127.7(ELAC2):c.1659+20A>G
|
|
|
NM_018127.7(ELAC2):c.1659+2dup
|
|
|
NM_018127.7(ELAC2):c.1659+3G>A
|
rs374767852
|
|
NM_018127.7(ELAC2):c.1659+5G>A
|
rs2143568451
|
|
NM_018127.7(ELAC2):c.1659+8T>C
|
|
|
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
|
|
|
NM_018127.7(ELAC2):c.1660-10T>C
|
rs1373415355
|
|
NM_018127.7(ELAC2):c.1660-10T>G
|
|
|
NM_018127.7(ELAC2):c.1660-17T>G
|
rs2143564288
|
|
NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)
|
|
|
NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala)
|
rs2040449069
|
|
NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)
|
|
|
NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)
|
|
|
NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)
|
|
|
NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)
|
|
|
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del)
|
rs2040448051
|
|
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
|
|
|
NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)
|
|
|
NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)
|
|
|
NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)
|
|
|
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=)
|
rs2143563741
|
|
NM_018127.7(ELAC2):c.1698+5G>A
|
rs910420350
|
|
NM_018127.7(ELAC2):c.1699-15C>A
|
rs754311468
|
|
NM_018127.7(ELAC2):c.1699-15C>G
|
|
|
NM_018127.7(ELAC2):c.1699-16G>A
|
rs765833496
|
|
NM_018127.7(ELAC2):c.1699-1G>A
|
|
|
NM_018127.7(ELAC2):c.1699-8dup
|
rs878855049
|
|
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro)
|
rs2143562579
|
|
NM_018127.7(ELAC2):c.1706del (p.Leu569fs)
|
rs2143562536
|
|
NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)
|
|
|
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
|
|
|
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
|
|
|
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
|
|
|
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
|
|
|
NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)
|
|
|
NM_018127.7(ELAC2):c.1731_1732delinsCT (p.Val578Leu)
|
rs2143562254
|
|
NM_018127.7(ELAC2):c.1735G>C (p.Val579Leu)
|
rs1365874986
|
|
NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)
|
|
|
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
|
|
|
NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)
|
|
|
NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)
|
|
|
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu)
|
rs1435693717
|
|
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
|
|
|
NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro)
|
rs2143561613
|
|
NM_018127.7(ELAC2):c.1808+14del
|
rs761236461
|
|
NM_018127.7(ELAC2):c.1808+4A>G
|
rs1044835449
|
|
NM_018127.7(ELAC2):c.1808+7A>G
|
|
|
NM_018127.7(ELAC2):c.1809-10C>T
|
rs2040403434
|
|
NM_018127.7(ELAC2):c.1809-14T>G
|
|
|
NM_018127.7(ELAC2):c.1809-19A>G
|
|
|
NM_018127.7(ELAC2):c.1809-1G>A
|
|
|
NM_018127.7(ELAC2):c.1809-5del
|
|
|
NM_018127.7(ELAC2):c.180G>C (p.Leu60=)
|
|
|
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg)
|
rs2143557076
|
|
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
|
|
|
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
|
|
|
NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)
|
|
|
NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)
|
|
|
NM_018127.7(ELAC2):c.1850C>G (p.Ser617Cys)
|
rs2143556871
|
|
NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)
|
|
|
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
|
|
|
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)
|
rs119484087
|
|
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
|
|
|
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=)
|
rs375891204
|
|
NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)
|
|
|
NM_018127.7(ELAC2):c.1897G>A (p.Asp633Asn)
|
rs2143556453
|
|
NM_018127.7(ELAC2):c.1908+16G>A
|
rs773964699
|
|
NM_018127.7(ELAC2):c.1908+16G>T
|
rs773964699
|
|
NM_018127.7(ELAC2):c.1908+1G>A
|
rs1014558424
|
|
NM_018127.7(ELAC2):c.1908+20G>A
|
|
|
NM_018127.7(ELAC2):c.1908+3A>G
|
rs1164400207
|
|
NM_018127.7(ELAC2):c.1908+7G>A
|
|
|
NM_018127.7(ELAC2):c.1908+8G>A
|
|
|
NM_018127.7(ELAC2):c.1908+9C>T
|
|
|
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
|
|
|
NM_018127.7(ELAC2):c.1909-11C>T
|
|
|
NM_018127.7(ELAC2):c.1909-14C>T
|
|
|
NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)
|
|
|
NM_018127.7(ELAC2):c.1926G>A (p.Val642=)
|
|
|
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln)
|
rs199545091
|
|
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
|
|
|
NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)
|
|
|
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
|
|
|
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu)
|
rs1343793177
|
|
NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)
|
|
|
NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)
|
|
|
NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)
|
|
|
NM_018127.7(ELAC2):c.1962G>A (p.Val654=)
|
|
|
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala)
|
rs1555572124
|
|
NM_018127.7(ELAC2):c.1986C>T (p.Val662=)
|
rs772271496
|
|
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
|
|
|
NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)
|
|
|
NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile)
|
rs961586097
|
|
NM_018127.7(ELAC2):c.2003T>C (p.Met668Thr)
|
rs376231184
|
|
NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile)
|
rs1386145788
|
|
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=)
|
rs1598197387
|
|
NM_018127.7(ELAC2):c.2026A>G (p.Met676Val)
|
rs2143554465
|
|
NM_018127.7(ELAC2):c.2029+10G>A
|
rs2143554371
|
|
NM_018127.7(ELAC2):c.2029+11G>T
|
rs2143554341
|
|
NM_018127.7(ELAC2):c.2029+19A>C
|
|
|
NM_018127.7(ELAC2):c.2029+1G>A
|
|
|
NM_018127.7(ELAC2):c.2029+5G>A
|
|
|
NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)
|
|
|
NM_018127.7(ELAC2):c.2030-11T>C
|
|
|
NM_018127.7(ELAC2):c.2030-12C>T
|
|
|
NM_018127.7(ELAC2):c.2030-18del
|
|
|
NM_018127.7(ELAC2):c.2030-3del
|
rs768715038
|
|
NM_018127.7(ELAC2):c.2030-4C>T
|
|
|
NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)
|
|
|
NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)
|
|
|
NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)
|
|
|
NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)
|
|
|
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg)
|
rs2040364723
|
|
NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)
|
|
|
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys)
|
rs1426760558
|
|
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
|
|
|
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
|
|
|
NM_018127.7(ELAC2):c.2108+8del
|
rs2143551878
|
|
NM_018127.7(ELAC2):c.2108+9G>A
|
rs2143551870
|
|
NM_018127.7(ELAC2):c.2109-15G>A
|
|
|
NM_018127.7(ELAC2):c.2109-18T>C
|
|
|
NM_018127.7(ELAC2):c.2109-6_2111del
|
|
|
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
|
|
|
NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)
|
|
|
NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val)
|
rs2040327532
|
|
NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala)
|
rs1185274134
|
|
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=)
|
rs878855050
|
|
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
|
|
|
NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)
|
|
|
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
|
|
|
NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)
|
|
|
NM_018127.7(ELAC2):c.2166G>C (p.Leu722=)
|
rs747933914
|
|
NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)
|
|
|
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter)
|
rs946948334
|
|
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
|
|
|
NM_018127.7(ELAC2):c.2184C>G (p.Arg728=)
|
rs2143547737
|
|
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu)
|
rs2143696607
|
|
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=)
|
rs2143547695
|
|
NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser)
|
rs2143547589
|
|
NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe)
|
rs752421786
|
|
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
|
|
|
NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)
|
|
|
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
|
|
|
NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)
|
|
|
NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)
|
|
|
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)
|
|
|
NM_018127.7(ELAC2):c.2253+14_2253+15del
|
rs778977916
|
|
NM_018127.7(ELAC2):c.2253+15C>T
|
|
|
NM_018127.7(ELAC2):c.2253+16G>A
|
rs1483814202
|
|
NM_018127.7(ELAC2):c.2253+20A>G
|
|
|
NM_018127.7(ELAC2):c.2253+6_2253+321del
|
rs2143544217
|
|
NM_018127.7(ELAC2):c.2254-13T>C
|
|
|
NM_018127.7(ELAC2):c.2254-14A>G
|
|
|
NM_018127.7(ELAC2):c.2254-9G>C
|
|
|
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
|
|
|
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs)
|
rs2040267666
|
|
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
|
|
|
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=)
|
rs141048290
|
|
NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)
|
|
|
NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs)
|
rs753154933
|
|
NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)
|
|
|
NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)
|
|
|
NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)
|
|
|
NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn)
|
rs1470895228
|
|
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=)
|
rs775479429
|
|
NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)
|
|
|
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
|
|
|
NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)
|
|
|
NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del)
|
rs1395507635
|
|
NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu)
|
rs119484086
|
|
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
|
|
|
NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)
|
|
|
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp)
|
rs1060502162
|
|
NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)
|
|
|
NM_018127.7(ELAC2):c.2367G>T (p.Gln789His)
|
rs2143540323
|
|
NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)
|
|
|
NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr)
|
rs1567738119
|
|
NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal)
|
rs2143540081
|
|
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
|
|
|
NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)
|
|
|
NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro)
|
rs917643446
|
|
NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)
|
|
|
NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu)
|
rs2143539834
|
|
NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)
|
|
|
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
|
|
|
NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)
|
|
|
NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu)
|
rs764484752
|
|
NM_018127.7(ELAC2):c.2410del (p.Glu804fs)
|
rs2143539521
|
|
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=)
|
rs1165224986
|
|
NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)
|
|
|
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)
|
rs878855051
|
|
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=)
|
rs2143539338
|
|
NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)
|
|
|
NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln)
|
rs560083267
|
|
NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)
|
|
|
NM_018127.7(ELAC2):c.245+14C>T
|
rs368694405
|
|
NM_018127.7(ELAC2):c.245+18G>T
|
|
|
NM_018127.7(ELAC2):c.245+9A>G
|
|
|
NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)
|
|
|
NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)
|
|
|
NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)
|
|
|
NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly)
|
rs1412024900
|
|
NM_018127.7(ELAC2):c.246-14T>C
|
|
|
NM_018127.7(ELAC2):c.246-18G>A
|
|
|
NM_018127.7(ELAC2):c.246-20G>C
|
|
|
NM_018127.7(ELAC2):c.246-2A>G
|
rs2143692659
|
|
NM_018127.7(ELAC2):c.246-7C>A
|
|
|
NM_018127.7(ELAC2):c.246-8T>C
|
|
|
NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)
|
|
|
NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)
|
|
|
NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs)
|
rs2143538654
|
|
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
|
|
|
NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)
|
|
|
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
|
|
|
NM_018127.7(ELAC2):c.273del (p.Gln92fs)
|
rs748788377
|
|
NM_018127.7(ELAC2):c.282C>T (p.Leu94=)
|
rs2143692376
|
|
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
|
|
|
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
|
|
|
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
|
|
|
NM_018127.7(ELAC2):c.294C>T (p.His98=)
|
|
|
NM_018127.7(ELAC2):c.296+11C>T
|
|
|
NM_018127.7(ELAC2):c.296+13_296+14del
|
|
|
NM_018127.7(ELAC2):c.296+3_296+6dup
|
rs1182540305
|
|
NM_018127.7(ELAC2):c.297-14T>G
|
|
|
NM_018127.7(ELAC2):c.297-2_297-1delinsT
|
rs1060502161
|
|
NM_018127.7(ELAC2):c.297-3T>A
|
|
|
NM_018127.7(ELAC2):c.297-5del
|
|
|
NM_018127.7(ELAC2):c.297-8A>G
|
|
|
NM_018127.7(ELAC2):c.297-9C>A
|
|
|
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
|
|
|
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe)
|
rs2143698286
|
|
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
|
|
|
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
|
|
|
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu)
|
rs1060502163
|
|
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
|
|
|
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
|
|
|
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
|
|
|
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
|
|
|
NM_018127.7(ELAC2):c.367+15T>C
|
|
|
NM_018127.7(ELAC2):c.367+15del
|
|
|
NM_018127.7(ELAC2):c.368-10T>C
|
|
|
NM_018127.7(ELAC2):c.368-7T>A
|
|
|
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
|
|
|
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
|
|
|
NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu)
|
rs776742204
|
|
NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)
|
|
|
NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala)
|
rs2143685296
|
|
NM_018127.7(ELAC2):c.402A>G (p.Pro134=)
|
|
|
NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)
|
|
|
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu)
|
rs1598274263
|
|
NM_018127.7(ELAC2):c.432+10T>C
|
|
|
NM_018127.7(ELAC2):c.432+11C>T
|
|
|
NM_018127.7(ELAC2):c.432+12del
|
|
|
NM_018127.7(ELAC2):c.432+17A>C
|
|
|
NM_018127.7(ELAC2):c.432+1del
|
rs766739618
|
|
NM_018127.7(ELAC2):c.432+7C>T
|
rs780918165
|
|
NM_018127.7(ELAC2):c.433-16C>T
|
rs2143678464
|
|
NM_018127.7(ELAC2):c.433-20A>G
|
rs780641263
|
|
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
|
|
|
NM_018127.7(ELAC2):c.444C>G (p.Leu148=)
|
|
|
NM_018127.7(ELAC2):c.447A>G (p.Glu149=)
|
rs2143678294
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
|
|
|
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
|
|
|
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
|
|
|
NM_018127.7(ELAC2):c.490+11G>C
|
|
|
NM_018127.7(ELAC2):c.490+5G>A
|
|
|
NM_018127.7(ELAC2):c.491-4G>T
|
|
|
NM_018127.7(ELAC2):c.491-5T>C
|
rs2143670362
|
|
NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)
|
|
|
NM_018127.7(ELAC2):c.493G>C (p.Val165Leu)
|
rs2143670315
|
|
NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)
|
|
|
NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)
|
|
|
NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)
|
|
|
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
|
|
|
NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)
|
|
|
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=)
|
rs2143670005
|
|
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter)
|
rs374954001
|
|
NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)
|
|
|
NM_018127.7(ELAC2):c.532A>G (p.Met178Val)
|
rs1052094774
|
|
NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile)
|
rs2143669875
|
|
NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)
|
|
|
NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)
|
|
|
NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)
|
|
|
NM_018127.7(ELAC2):c.557A>G (p.His186Arg)
|
|
|
NM_018127.7(ELAC2):c.559+12del
|
|
|
NM_018127.7(ELAC2):c.559+18G>A
|
rs2041518961
|
|
NM_018127.7(ELAC2):c.559+7A>G
|
|
|
NM_018127.7(ELAC2):c.559+8T>C
|
rs2143669591
|
|
NM_018127.7(ELAC2):c.560-12T>C
|
|
|
NM_018127.7(ELAC2):c.560-15A>G
|
rs2041429226
|
|
NM_018127.7(ELAC2):c.560-18G>A
|
|
|
NM_018127.7(ELAC2):c.560-1G>A
|
rs2143661948
|
|
NM_018127.7(ELAC2):c.560-6G>A
|
rs2143661977
|
|
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del)
|
rs771710773
|
|
NM_018127.7(ELAC2):c.576A>G (p.Gly192=)
|
rs1410606129
|
|
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)
|
rs1359575116
|
|
NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)
|
|
|
NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)
|
|
|
NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)
|
|
|
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
|
|
|
NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly)
|
rs2143661549
|
|
NM_018127.7(ELAC2):c.621C>T (p.Leu207=)
|
|
|
NM_018127.7(ELAC2):c.627A>G (p.Pro209=)
|
|
|
NM_018127.7(ELAC2):c.63C>A (p.Thr21=)
|
|
|
NM_018127.7(ELAC2):c.640G>C (p.Asp214His)
|
|
|
NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys)
|
rs1382116568
|
|
NM_018127.7(ELAC2):c.660T>C (p.Asn220=)
|
|
|
NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)
|
|
|
NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg)
|
rs2143661121
|
|
NM_018127.7(ELAC2):c.667C>T (p.His223Tyr)
|
rs1335862034
|
|
NM_018127.7(ELAC2):c.66A>G (p.Ile22Met)
|
rs2041840491
|
|
NM_018127.7(ELAC2):c.679+11A>G
|
rs937695443
|
|
NM_018127.7(ELAC2):c.679+14C>G
|
|
|
NM_018127.7(ELAC2):c.680-12G>C
|
|
|
NM_018127.7(ELAC2):c.680-14G>A
|
|
|
NM_018127.7(ELAC2):c.680-16G>C
|
|
|
NM_018127.7(ELAC2):c.684T>C (p.Val228=)
|
|
|
NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)
|
|
|
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys)
|
rs1259675163
|
|
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
|
|
|
NM_018127.7(ELAC2):c.714C>G (p.Ser238=)
|
|
|
NM_018127.7(ELAC2):c.720C>T (p.Val240=)
|
|
|
NM_018127.7(ELAC2):c.738+12T>A
|
|
|
NM_018127.7(ELAC2):c.738+13T>C
|
|
|
NM_018127.7(ELAC2):c.738+14T>G
|
|
|
NM_018127.7(ELAC2):c.738+15C>G
|
|
|
NM_018127.7(ELAC2):c.739-13_739-9del
|
|
|
NM_018127.7(ELAC2):c.739-20C>G
|
|
|
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
|
|
|
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys)
|
rs2041085908
|
|
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
|
|
|
NM_018127.7(ELAC2):c.766del (p.Val256fs)
|
rs2041085400
|
|
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
|
|
|
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
|
|
|
NM_018127.7(ELAC2):c.797+11G>C
|
|
|
NM_018127.7(ELAC2):c.797+14del
|
rs748817791
|
|
NM_018127.7(ELAC2):c.797+16A>G
|
rs895800256
|
|
NM_018127.7(ELAC2):c.797+1G>A
|
|
|
NM_018127.7(ELAC2):c.797+20C>T
|
|
|
NM_018127.7(ELAC2):c.797+8T>C
|
|
|
NM_018127.7(ELAC2):c.797+8T>G
|
|
|
NM_018127.7(ELAC2):c.797+8_797+9del
|
|
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NM_018127.7(ELAC2):c.797+9G>A
|
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NM_018127.7(ELAC2):c.797+9G>C
|
rs762820869
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NM_018127.7(ELAC2):c.798-19C>T
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|
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NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser)
|
rs765353090
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NM_018127.7(ELAC2):c.828T>C (p.Ala276=)
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NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn)
|
rs953161128
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NM_018127.7(ELAC2):c.83G>A (p.Arg28His)
|
rs1192697057
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NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu)
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rs369092504
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NM_018127.7(ELAC2):c.851_853del (p.Ile284del)
|
rs2041067692
|
|
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
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NM_018127.7(ELAC2):c.858T>C (p.His286=)
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NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe)
|
rs2143697792
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NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
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|
|
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
|
|
|
NM_018127.7(ELAC2):c.871-10G>A
|
|
|
NM_018127.7(ELAC2):c.871-11del
|
rs781302974
|
|
NM_018127.7(ELAC2):c.871-18G>A
|
|
|
NM_018127.7(ELAC2):c.871-9G>C
|
rs750378111
|
|
NM_018127.7(ELAC2):c.87C>G (p.Arg29=)
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|
|
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
|
|
|
NM_018127.7(ELAC2):c.897T>C (p.Pro299=)
|
|
|
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
|
|
|
NM_018127.7(ELAC2):c.900A>G (p.Pro300=)
|
rs1567758616
|
|
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val)
|
rs188256643
|
|
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
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|
|
NM_018127.7(ELAC2):c.924G>C (p.Val308=)
|
rs2143621668
|
|
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser)
|
rs912946000
|
|
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val)
|
rs2041026993
|
|
NM_018127.7(ELAC2):c.957C>T (p.Pro319=)
|
|
|
NM_018127.7(ELAC2):c.972C>T (p.Ala324=)
|
|
|
NM_018127.7(ELAC2):c.975C>G (p.Thr325=)
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|
|
NM_018127.7(ELAC2):c.983+17A>G
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|
|
NM_018127.7(ELAC2):c.983+19G>A
|
|
|
NM_018127.7(ELAC2):c.984-15C>T
|
|
|
NM_018127.7(ELAC2):c.984-2A>G
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|
|
NM_018127.7(ELAC2):c.984-3del
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|
|
NM_018127.7(ELAC2):c.984-4C>T
|
rs1375270986
|
|
NM_018127.7(ELAC2):c.984-5C>T
|
rs752324594
|
|
NM_018127.7(ELAC2):c.984-8C>A
|
rs2143613374
|
|
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
|
|
|
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr)
|
rs2143613231
|
|
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)
|
|
|
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)
|
|
|