NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_003640.5(ELP1):c.*1214C>T
|
rs143906434
|
0.00555
|
NM_003640.5(ELP1):c.*902C>T
|
rs139728295
|
0.00347
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392
|
0.00236
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_003640.5(ELP1):c.*1494A>G
|
rs543323193
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_003640.5(ELP1):c.*1489G>A
|
rs78224677
|
0.00061
|
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)
|
rs140024352
|
0.00058
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
NM_003640.5(ELP1):c.*579A>G
|
rs772683091
|
0.00041
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_003640.5(ELP1):c.*502C>T
|
rs56305287
|
0.00039
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00038
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
NM_003640.5(ELP1):c.959-10T>C
|
rs144059169
|
0.00035
|
NM_003640.5(ELP1):c.-242T>G
|
rs765585828
|
0.00032
|
NM_003640.5(ELP1):c.*1412T>A
|
rs117081559
|
0.00029
|
NM_017832.2(ABITRAM):c.-149G>A
|
rs1050167142
|
0.00027
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
NM_003640.5(ELP1):c.650-7C>T
|
rs368410371
|
0.00022
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)
|
rs146956297
|
0.00021
|
NM_003640.5(ELP1):c.2025C>T (p.Ala675=)
|
rs200532312
|
0.00020
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755
|
0.00013
|
NM_003640.5(ELP1):c.*1277T>G
|
rs537888003
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_003640.5(ELP1):c.*1281T>C
|
rs189897190
|
0.00011
|
NM_003640.5(ELP1):c.*569T>C
|
rs928660237
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003640.5(ELP1):c.3573-7C>G
|
rs370571926
|
0.00011
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00010
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
0.00010
|
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)
|
rs748458910
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
NM_003640.5(ELP1):c.1093G>T (p.Gly365Cys)
|
rs367921553
|
0.00008
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706
|
0.00008
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
NM_003640.5(ELP1):c.*1240T>C
|
rs1040975275
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_003640.5(ELP1):c.-31G>C
|
rs375962780
|
0.00006
|
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)
|
rs776167946
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.1914G>A (p.Ala638=)
|
rs142096497
|
0.00006
|
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
|
rs201596987
|
0.00006
|
NM_003640.5(ELP1):c.2588-6T>G
|
rs1350078150
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)
|
rs199723919
|
0.00006
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
NM_003640.5(ELP1):c.649+12T>C
|
rs375554772
|
0.00005
|
NM_003640.5(ELP1):c.*1291A>G
|
rs971258024
|
0.00004
|
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly)
|
rs755282356
|
0.00004
|
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)
|
rs143494120
|
0.00004
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.1973A>G (p.His658Arg)
|
rs372151936
|
0.00004
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.304-5C>T
|
rs370384351
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_003640.5(ELP1):c.606G>T (p.Gly202=)
|
rs768309637
|
0.00004
|
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp)
|
rs374238430
|
0.00004
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
NM_003640.4(ELP1):c.-403C>T
|
rs886063352
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu)
|
rs757701039
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2545C>G (p.Pro849Ala)
|
rs34550675
|
0.00003
|
NM_003640.5(ELP1):c.270A>T (p.Gly90=)
|
rs200640674
|
0.00003
|
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser)
|
rs1378971881
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.3285+6A>T
|
rs1465325866
|
0.00003
|
NM_003640.5(ELP1):c.3346+6G>C
|
rs774179813
|
0.00003
|
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)
|
rs372499865
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg)
|
rs201888676
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg)
|
rs557686367
|
0.00003
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003640.4(ELP1):c.-323C>T
|
rs901684930
|
0.00002
|
NM_003640.4(ELP1):c.-343T>G
|
rs568907421
|
0.00002
|
NM_003640.5(ELP1):c.*1062G>T
|
rs559551917
|
0.00002
|
NM_003640.5(ELP1):c.*1352A>G
|
rs886063344
|
0.00002
|
NM_003640.5(ELP1):c.*1566A>G
|
rs1007495788
|
0.00002
|
NM_003640.5(ELP1):c.-115A>T
|
rs932890007
|
0.00002
|
NM_003640.5(ELP1):c.-45T>C
|
rs371791247
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1408G>A (p.Gly470Arg)
|
rs765727987
|
0.00002
|
NM_003640.5(ELP1):c.1466A>C (p.Gln489Pro)
|
rs140229715
|
0.00002
|
NM_003640.5(ELP1):c.150+3A>G
|
rs760208051
|
0.00002
|
NM_003640.5(ELP1):c.1511G>A (p.Gly504Asp)
|
rs778215292
|
0.00002
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)
|
rs369856286
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp)
|
rs771647322
|
0.00002
|
NM_003640.5(ELP1):c.20T>G (p.Phe7Cys)
|
rs1379847365
|
0.00002
|
NM_003640.5(ELP1):c.2210T>C (p.Met737Thr)
|
rs747028759
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.231G>C (p.Leu77Phe)
|
rs1241114854
|
0.00002
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2585A>G (p.Gln862Arg)
|
rs563636288
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.2807T>C (p.Ile936Thr)
|
rs199617267
|
0.00002
|
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)
|
rs749200669
|
0.00002
|
NM_003640.5(ELP1):c.2958+10A>T
|
rs768709875
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys)
|
rs868601119
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3222+4A>T
|
rs367771963
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003640.5(ELP1):c.*1054T>C
|
rs577931217
|
0.00001
|
NM_003640.5(ELP1):c.*1194C>T
|
rs1827297908
|
0.00001
|
NM_003640.5(ELP1):c.*1511T>C
|
rs758269307
|
0.00001
|
NM_003640.5(ELP1):c.-156G>A
|
rs886063350
|
0.00001
|
NM_003640.5(ELP1):c.-183C>T
|
rs1437319593
|
0.00001
|
NM_003640.5(ELP1):c.1031G>A (p.Ser344Asn)
|
rs374294411
|
0.00001
|
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile)
|
rs918763626
|
0.00001
|
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
|
rs187183483
|
0.00001
|
NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp)
|
rs750718439
|
0.00001
|
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
|
rs774132326
|
0.00001
|
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser)
|
rs1273486554
|
0.00001
|
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser)
|
rs771123534
|
0.00001
|
NM_003640.5(ELP1):c.1180A>G (p.Ile394Val)
|
rs1372225878
|
0.00001
|
NM_003640.5(ELP1):c.1190-5T>A
|
rs1348750667
|
0.00001
|
NM_003640.5(ELP1):c.1190-6C>G
|
rs1340978905
|
0.00001
|
NM_003640.5(ELP1):c.1191C>G (p.Asn397Lys)
|
rs749277039
|
0.00001
|
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)
|
rs369242781
|
0.00001
|
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu)
|
rs375957332
|
0.00001
|
NM_003640.5(ELP1):c.1244C>T (p.Thr415Ile)
|
rs756192004
|
0.00001
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1321G>A (p.Val441Ile)
|
rs778927429
|
0.00001
|
NM_003640.5(ELP1):c.1323T>C (p.Val441=)
|
rs200925118
|
0.00001
|
NM_003640.5(ELP1):c.1346C>T (p.Ser449Phe)
|
rs755630402
|
0.00001
|
NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg)
|
rs754743691
|
0.00001
|
NM_003640.5(ELP1):c.1386A>G (p.Thr462=)
|
rs1829093869
|
0.00001
|
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys)
|
rs764155403
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu)
|
rs779307491
|
0.00001
|
NM_003640.5(ELP1):c.151-10T>C
|
rs768610434
|
0.00001
|
NM_003640.5(ELP1):c.1549G>A (p.Val517Ile)
|
rs1451126639
|
0.00001
|
NM_003640.5(ELP1):c.1555C>T (p.His519Tyr)
|
rs776729454
|
0.00001
|
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
|
rs766737737
|
0.00001
|
NM_003640.5(ELP1):c.1584T>G (p.Ile528Met)
|
rs745586570
|
0.00001
|
NM_003640.5(ELP1):c.1786T>C (p.Ser596Pro)
|
rs749510215
|
0.00001
|
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)
|
rs886063347
|
0.00001
|
NM_003640.5(ELP1):c.1819T>C (p.Cys607Arg)
|
rs1428249476
|
0.00001
|
NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys)
|
rs1198964450
|
0.00001
|
NM_003640.5(ELP1):c.1854+3A>G
|
rs773379221
|
0.00001
|
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser)
|
rs370377909
|
0.00001
|
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn)
|
rs202085601
|
0.00001
|
NM_003640.5(ELP1):c.1938A>G (p.Val646=)
|
rs750906847
|
0.00001
|
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
|
rs764320309
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
|
rs756120509
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2135C>T (p.Pro712Leu)
|
rs752272003
|
0.00001
|
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)
|
rs1828702034
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2346G>T (p.Leu782Phe)
|
rs1182966138
|
0.00001
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
NM_003640.5(ELP1):c.2439G>T (p.Gly813=)
|
rs1828590245
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu)
|
rs1307998361
|
0.00001
|
NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg)
|
rs764026138
|
0.00001
|
NM_003640.5(ELP1):c.2502-13C>T
|
rs138510668
|
0.00001
|
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val)
|
rs779097269
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
|
rs146958186
|
0.00001
|
NM_003640.5(ELP1):c.2675A>G (p.Asp892Gly)
|
rs1423041055
|
0.00001
|
NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser)
|
rs200590656
|
0.00001
|
NM_003640.5(ELP1):c.2693A>G (p.Tyr898Cys)
|
rs199679232
|
0.00001
|
NM_003640.5(ELP1):c.2707G>A (p.Val903Ile)
|
rs1828552741
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2910G>T (p.Leu970Phe)
|
rs146198104
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
NM_003640.5(ELP1):c.303+11G>A
|
rs549703822
|
0.00001
|
NM_003640.5(ELP1):c.303+3A>G
|
rs766433871
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.304-10T>A
|
rs1417685633
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3043C>T (p.His1015Tyr)
|
rs762687399
|
0.00001
|
NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu)
|
rs372822046
|
0.00001
|
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)
|
rs778943416
|
0.00001
|
NM_003640.5(ELP1):c.3094C>T (p.Leu1032Phe)
|
rs774427341
|
0.00001
|
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)
|
rs764867856
|
0.00001
|
NM_003640.5(ELP1):c.3152C>T (p.Thr1051Ile)
|
rs747546817
|
0.00001
|
NM_003640.5(ELP1):c.3169G>A (p.Val1057Ile)
|
rs1370476500
|
0.00001
|
NM_003640.5(ELP1):c.3208G>A (p.Glu1070Lys)
|
rs778318147
|
0.00001
|
NM_003640.5(ELP1):c.322G>A (p.Val108Ile)
|
rs192047457
|
0.00001
|
NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val)
|
rs752344797
|
0.00001
|
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
|
rs761896714
|
0.00001
|
NM_003640.5(ELP1):c.334A>G (p.Ile112Val)
|
rs1451932418
|
0.00001
|
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His)
|
rs143580972
|
0.00001
|
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys)
|
rs377679012
|
0.00001
|
NM_003640.5(ELP1):c.3425G>A (p.Arg1142Gln)
|
rs746668947
|
0.00001
|
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
|
rs1032686725
|
0.00001
|
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)
|
rs199617076
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)
|
rs886063345
|
0.00001
|
NM_003640.5(ELP1):c.3680A>G (p.Gln1227Arg)
|
rs1272852371
|
0.00001
|
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)
|
rs764936574
|
0.00001
|
NM_003640.5(ELP1):c.3700+6T>G
|
rs761423880
|
0.00001
|
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val)
|
rs756928248
|
0.00001
|
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)
|
rs200634033
|
0.00001
|
NM_003640.5(ELP1):c.3829A>T (p.Thr1277Ser)
|
rs753141812
|
0.00001
|
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
|
rs199813856
|
0.00001
|
NM_003640.5(ELP1):c.3855G>A (p.Pro1285=)
|
rs901285079
|
0.00001
|
NM_003640.5(ELP1):c.3883A>G (p.Ser1295Gly)
|
rs989681376
|
0.00001
|
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val)
|
rs762773957
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
NM_003640.5(ELP1):c.3952C>A (p.Pro1318Thr)
|
rs757781758
|
0.00001
|
NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr)
|
rs367795801
|
0.00001
|
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser)
|
rs370034421
|
0.00001
|
NM_003640.5(ELP1):c.427A>G (p.Ile143Val)
|
rs571422569
|
0.00001
|
NM_003640.5(ELP1):c.43A>G (p.Ile15Val)
|
rs1250977761
|
0.00001
|
NM_003640.5(ELP1):c.49G>A (p.Gly17Ser)
|
rs1829991757
|
0.00001
|
NM_003640.5(ELP1):c.593T>C (p.Val198Ala)
|
rs948923581
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln)
|
rs749382362
|
0.00001
|
NM_003640.5(ELP1):c.667G>T (p.Val223Leu)
|
rs769746039
|
0.00001
|
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
|
rs1274927283
|
0.00001
|
NM_003640.5(ELP1):c.706C>A (p.Pro236Thr)
|
rs1231418805
|
0.00001
|
NM_003640.5(ELP1):c.717A>C (p.Gly239=)
|
rs1333495798
|
0.00001
|
NM_003640.5(ELP1):c.740+5G>C
|
rs200291810
|
0.00001
|
NM_003640.5(ELP1):c.743C>T (p.Pro248Leu)
|
rs1394468770
|
0.00001
|
NM_003640.5(ELP1):c.768A>G (p.Thr256=)
|
rs985459923
|
0.00001
|
NM_003640.5(ELP1):c.773A>G (p.Asp258Gly)
|
rs1206581781
|
0.00001
|
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
|
rs371587578
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003640.5(ELP1):c.93G>T (p.Gly31=)
|
rs778404648
|
0.00001
|
NM_003640.5(ELP1):c.958+11T>G
|
rs201309418
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
GRCh37/hg19 9q31.3(chr9:111657648-111674731)x1
|
|
|
NC_000009.11:g.(?_111693257)_(111693446_?)dup
|
|
|
NM_003640.4(ELP1):c.-353C>A
|
rs886063351
|
|
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)
|
rs750344128
|
|
NM_003640.5(ELP1):c.*103A>G
|
rs1827336019
|
|
NM_003640.5(ELP1):c.*1124C>T
|
rs746907451
|
|
NM_003640.5(ELP1):c.*1191T>G
|
rs539404183
|
|
NM_003640.5(ELP1):c.*1196G>T
|
rs1827297816
|
|
NM_003640.5(ELP1):c.*1254C>A
|
rs879924643
|
|
NM_003640.5(ELP1):c.*1406A>G
|
rs1827290161
|
|
NM_003640.5(ELP1):c.*1428G>T
|
rs1040481870
|
|
NM_003640.5(ELP1):c.*1429C>T
|
rs199666995
|
|
NM_003640.5(ELP1):c.*344A>G
|
rs555355380
|
|
NM_003640.5(ELP1):c.*636T>C
|
rs1827316671
|
|
NM_003640.5(ELP1):c.*705C>T
|
rs1827314926
|
|
NM_003640.5(ELP1):c.*769T>A
|
rs1827312944
|
|
NM_003640.5(ELP1):c.*806A>C
|
rs549486672
|
|
NM_003640.5(ELP1):c.*82G>A
|
rs1827337150
|
|
NM_003640.5(ELP1):c.*838C>T
|
rs772279169
|
|
NM_003640.5(ELP1):c.-155A>T
|
rs117100816
|
|
NM_003640.5(ELP1):c.-158C>G
|
rs530824179
|
|
NM_003640.5(ELP1):c.-177C>T
|
rs138630440
|
|
NM_003640.5(ELP1):c.-179G>C
|
rs528803158
|
|
NM_003640.5(ELP1):c.-38A>G
|
rs768298252
|
|
NM_003640.5(ELP1):c.-59_-56+15del
|
rs993537831
|
|
NM_003640.5(ELP1):c.100C>G (p.Leu34Val)
|
rs140944971
|
|
NM_003640.5(ELP1):c.1015A>C (p.Ser339Arg)
|
rs1350193684
|
|
NM_003640.5(ELP1):c.1017C>G (p.Ser339Arg)
|
|
|
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg)
|
rs772819713
|
|
NM_003640.5(ELP1):c.1037T>C (p.Ile346Thr)
|
|
|
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
|
rs1587908989
|
|
NM_003640.5(ELP1):c.104T>C (p.Ile35Thr)
|
|
|
NM_003640.5(ELP1):c.1057C>G (p.Pro353Ala)
|
|
|
NM_003640.5(ELP1):c.1066C>T (p.Pro356Ser)
|
rs1339454272
|
|
NM_003640.5(ELP1):c.1092G>C (p.Gln364His)
|
rs1829258370
|
|
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)
|
rs1564096412
|
|
NM_003640.5(ELP1):c.1099C>T (p.His367Tyr)
|
|
|
NM_003640.5(ELP1):c.1108G>A (p.Ala370Thr)
|
|
|
NM_003640.5(ELP1):c.1114G>C (p.Asp372His)
|
|
|
NM_003640.5(ELP1):c.1118G>T (p.Trp373Leu)
|
|
|
NM_003640.5(ELP1):c.1129A>G (p.Thr377Ala)
|
|
|
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
|
rs766255360
|
|
NM_003640.5(ELP1):c.1136G>A (p.Arg379Gln)
|
|
|
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr)
|
rs749865081
|
|
NM_003640.5(ELP1):c.1140C>A (p.Ser380Arg)
|
rs771575205
|
|
NM_003640.5(ELP1):c.1147G>T (p.Asp383Tyr)
|
rs1254770684
|
|
NM_003640.5(ELP1):c.1164G>C (p.Leu388Phe)
|
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val)
|
rs1554699340
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1187G>C (p.Gly396Ala)
|
rs1414061926
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
NM_003640.5(ELP1):c.1189+6C>G
|
|
|
NM_003640.5(ELP1):c.1193G>A (p.Arg398Lys)
|
|
|
NM_003640.5(ELP1):c.119G>T (p.Gly40Val)
|
rs1829988830
|
|
NM_003640.5(ELP1):c.1211T>C (p.Phe404Ser)
|
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
NM_003640.5(ELP1):c.1237A>C (p.Met413Leu)
|
|
|
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro)
|
rs1554699019
|
|
NM_003640.5(ELP1):c.125T>C (p.Ile42Thr)
|
|
|
NM_003640.5(ELP1):c.1264C>T (p.His422Tyr)
|
|
|
NM_003640.5(ELP1):c.1271T>A (p.Val424Glu)
|
|
|
NM_003640.5(ELP1):c.1278A>G (p.Gln426=)
|
rs372511606
|
|
NM_003640.5(ELP1):c.1309A>G (p.Asn437Asp)
|
|
|
NM_003640.5(ELP1):c.131T>C (p.Val44Ala)
|
rs1829988347
|
|
NM_003640.5(ELP1):c.1331C>T (p.Ala444Val)
|
rs2132013549
|
|
NM_003640.5(ELP1):c.1336A>G (p.Asn446Asp)
|
rs1829197624
|
|
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr)
|
rs147575152
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr)
|
rs1829195961
|
|
NM_003640.5(ELP1):c.1358G>A (p.Cys453Tyr)
|
|
|
NM_003640.5(ELP1):c.1360+10A>G
|
rs1587907182
|
|
NM_003640.5(ELP1):c.1361-3C>A
|
rs1829095177
|
|
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln)
|
rs1829093766
|
|
NM_003640.5(ELP1):c.1399G>C (p.Ala467Pro)
|
|
|
NM_003640.5(ELP1):c.139G>A (p.Val47Ile)
|
rs151209640
|
|
NM_003640.5(ELP1):c.1405G>A (p.Gly469Ser)
|
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
NM_003640.5(ELP1):c.1460+3A>G
|
rs1564093432
|
|
NM_003640.5(ELP1):c.1461-13A>G
|
|
|
NM_003640.5(ELP1):c.1477A>G (p.Asn493Asp)
|
|
|
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp)
|
rs1829023404
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
NM_003640.5(ELP1):c.151-9T>G
|
rs747310144
|
|
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
|
rs201706900
|
|
NM_003640.5(ELP1):c.1540T>C (p.Phe514Leu)
|
rs2132003509
|
|
NM_003640.5(ELP1):c.1550T>C (p.Val517Ala)
|
|
|
NM_003640.5(ELP1):c.1570C>T (p.Pro524Ser)
|
|
|
NM_003640.5(ELP1):c.1576T>A (p.Ser526Thr)
|
rs2132003336
|
|
NM_003640.5(ELP1):c.1586A>G (p.His529Arg)
|
rs1829018937
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
NM_003640.5(ELP1):c.1603TCT[1] (p.Ser536del)
|
|
|
NM_003640.5(ELP1):c.1612A>G (p.Met538Val)
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1637A>G (p.Asn546Ser)
|
|
|
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly)
|
rs1829015512
|
|
NM_003640.5(ELP1):c.1645T>C (p.Ser549Pro)
|
|
|
NM_003640.5(ELP1):c.1649C>T (p.Ser550Phe)
|
|
|
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly)
|
rs139891858
|
|
NM_003640.5(ELP1):c.1655C>T (p.Ala552Val)
|
|
|
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu)
|
rs376515761
|
|
NM_003640.5(ELP1):c.1666G>C (p.Val556Leu)
|
|
|
NM_003640.5(ELP1):c.1675A>T (p.Ser559Cys)
|
|
|
NM_003640.5(ELP1):c.1686C>G (p.Cys562Trp)
|
|
|
NM_003640.5(ELP1):c.1693A>G (p.Lys565Glu)
|
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del)
|
rs1554697136
|
|
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly)
|
rs886063348
|
|
NM_003640.5(ELP1):c.1718T>A (p.Leu573Gln)
|
|
|
NM_003640.5(ELP1):c.1727G>A (p.Gly576Asp)
|
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1742A>G (p.Tyr581Cys)
|
|
|
NM_003640.5(ELP1):c.1744C>A (p.Leu582Ile)
|
|
|
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys)
|
rs1828896752
|
|
NM_003640.5(ELP1):c.1750+9C>G
|
rs1828896199
|
|
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys)
|
rs1828896602
|
|
NM_003640.5(ELP1):c.1770T>G (p.Ile590Met)
|
|
|
NM_003640.5(ELP1):c.1774C>T (p.Pro592Ser)
|
|
|
NM_003640.5(ELP1):c.1787C>G (p.Ser596Cys)
|
|
|
NM_003640.5(ELP1):c.178G>A (p.Glu60Lys)
|
|
|
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln)
|
rs755988042
|
|
NM_003640.5(ELP1):c.1829C>T (p.Thr610Ile)
|
rs1034282177
|
|
NM_003640.5(ELP1):c.1837G>A (p.Ala613Thr)
|
|
|
NM_003640.5(ELP1):c.1840A>G (p.Met614Val)
|
rs568478937
|
|
NM_003640.5(ELP1):c.1846G>A (p.Gly616Arg)
|
|
|
NM_003640.5(ELP1):c.1867G>T (p.Gly623Cys)
|
|
|
NM_003640.5(ELP1):c.1877A>G (p.Asp626Gly)
|
rs2131992524
|
|
NM_003640.5(ELP1):c.1881G>T (p.Arg627Ser)
|
|
|
NM_003640.5(ELP1):c.1885C>T (p.Arg629Cys)
|
|
|
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu)
|
rs1828814518
|
|
NM_003640.5(ELP1):c.1897A>G (p.Asn633Asp)
|
|
|
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe)
|
rs1829992932
|
|
NM_003640.5(ELP1):c.1909G>A (p.Val637Ile)
|
|
|
NM_003640.5(ELP1):c.190C>G (p.Pro64Ala)
|
|
|
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys)
|
rs377020122
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del)
|
rs1554696595
|
|
NM_003640.5(ELP1):c.1942G>A (p.Asp648Asn)
|
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.195G>T (p.Glu65Asp)
|
|
|
NM_003640.5(ELP1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_003640.5(ELP1):c.1974T>A (p.His658Gln)
|
|
|
NM_003640.5(ELP1):c.1975A>G (p.Thr659Ala)
|
rs200117008
|
|
NM_003640.5(ELP1):c.1975A>T (p.Thr659Ser)
|
rs200117008
|
|
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del)
|
rs1554696580
|
|
NM_003640.5(ELP1):c.2002G>A (p.Ala668Thr)
|
|
|
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro)
|
rs1587896793
|
|
NM_003640.5(ELP1):c.2005T>G (p.Ser669Ala)
|
|
|
NM_003640.5(ELP1):c.2014+6T>G
|
|
|
NM_003640.5(ELP1):c.2036G>A (p.Ser679Asn)
|
rs1828727895
|
|
NM_003640.5(ELP1):c.2044G>A (p.Val682Met)
|
|
|
NM_003640.5(ELP1):c.2051A>G (p.His684Arg)
|
|
|
NM_003640.5(ELP1):c.2052T>A (p.His684Gln)
|
rs1321906641
|
|
NM_003640.5(ELP1):c.2054G>A (p.Gly685Glu)
|
rs2131988688
|
|
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
|
|
|
NM_003640.5(ELP1):c.2068A>C (p.Lys690Gln)
|
rs761858315
|
|
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu)
|
rs761858315
|
|
NM_003640.5(ELP1):c.2080G>T (p.Gly694Cys)
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.208C>G (p.Arg70Gly)
|
|
|
NM_003640.5(ELP1):c.2091T>G (p.Ile697Met)
|
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>A (p.Arg70His)
|
rs111936933
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2107C>G (p.Gln703Glu)
|
rs2131988430
|
|
NM_003640.5(ELP1):c.2108A>G (p.Gln703Arg)
|
|
|
NM_003640.5(ELP1):c.2119C>G (p.Leu707Val)
|
rs769927115
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
NM_003640.5(ELP1):c.2131A>G (p.Met711Val)
|
|
|
NM_003640.5(ELP1):c.2161C>G (p.His721Asp)
|
rs1300413546
|
|
NM_003640.5(ELP1):c.2170C>G (p.Leu724Val)
|
|
|
NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)
|
|
|
NM_003640.5(ELP1):c.2204+3_2204+6del
|
|
|
NM_003640.5(ELP1):c.221T>C (p.Val74Ala)
|
|
|
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu)
|
rs1564085701
|
|
NM_003640.5(ELP1):c.2252A>G (p.Asn751Ser)
|
|
|
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)
|
rs182287137
|
|
NM_003640.5(ELP1):c.2281A>G (p.Lys761Glu)
|
rs1003255472
|
|
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del)
|
rs1554695751
|
|
NM_003640.5(ELP1):c.2320A>G (p.Ile774Val)
|
|
|
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
|
rs1587893028
|
|
NM_003640.5(ELP1):c.2326T>A (p.Ser776Thr)
|
|
|
NM_003640.5(ELP1):c.2335C>T (p.His779Tyr)
|
rs2131984597
|
|
NM_003640.5(ELP1):c.2336A>G (p.His779Arg)
|
rs1431007165
|
|
NM_003640.5(ELP1):c.235G>C (p.Asp79His)
|
rs1554703582
|
|
NM_003640.5(ELP1):c.235G>T (p.Asp79Tyr)
|
|
|
NM_003640.5(ELP1):c.2363A>G (p.Lys788Arg)
|
|
|
NM_003640.5(ELP1):c.236A>G (p.Asp79Gly)
|
|
|
NM_003640.5(ELP1):c.2370A>T (p.Glu790Asp)
|
|
|
NM_003640.5(ELP1):c.2372A>C (p.Asp791Ala)
|
rs532550445
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg)
|
rs201596987
|
|
NM_003640.5(ELP1):c.2387T>C (p.Met796Thr)
|
|
|
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)
|
rs1358881100
|
|
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
|
rs370041985
|
|
NM_003640.5(ELP1):c.2404A>G (p.Thr802Ala)
|
|
|
NM_003640.5(ELP1):c.2405C>G (p.Thr802Ser)
|
rs1828592002
|
|
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn)
|
rs1445493033
|
|
NM_003640.5(ELP1):c.2414T>C (p.Val805Ala)
|
rs1564084435
|
|
NM_003640.5(ELP1):c.2420T>A (p.Leu807Gln)
|
rs2131981963
|
|
NM_003640.5(ELP1):c.2431C>T (p.Pro811Ser)
|
rs765376716
|
|
NM_003640.5(ELP1):c.2437G>A (p.Gly813Arg)
|
|
|
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp)
|
rs1587926883
|
|
NM_003640.5(ELP1):c.2467A>G (p.Met823Val)
|
|
|
NM_003640.5(ELP1):c.2474C>T (p.Ala825Val)
|
|
|
NM_003640.5(ELP1):c.2501+3A>G
|
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser)
|
rs879253977
|
|
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)
|
rs1828577961
|
|
NM_003640.5(ELP1):c.2530G>T (p.Val844Leu)
|
rs754119022
|
|
NM_003640.5(ELP1):c.2552T>A (p.Leu851Gln)
|
|
|
NM_003640.5(ELP1):c.2567A>C (p.Gln856Pro)
|
|
|
NM_003640.5(ELP1):c.2573T>C (p.Val858Ala)
|
rs2131981161
|
|
NM_003640.5(ELP1):c.2576A>G (p.His859Arg)
|
|
|
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly)
|
rs199796698
|
|
NM_003640.5(ELP1):c.2596C>T (p.Pro866Ser)
|
|
|
NM_003640.5(ELP1):c.2617A>G (p.Ser873Gly)
|
|
|
NM_003640.5(ELP1):c.2653G>T (p.Val885Leu)
|
|
|
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys)
|
rs200590656
|
|
NM_003640.5(ELP1):c.26C>T (p.Thr9Ile)
|
|
|
NM_003640.5(ELP1):c.2714T>C (p.Met905Thr)
|
|
|
NM_003640.5(ELP1):c.2736+3A>G
|
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.2743A>G (p.Lys915Glu)
|
rs749213608
|
|
NM_003640.5(ELP1):c.2761C>A (p.Leu921Ile)
|
|
|
NM_003640.5(ELP1):c.2761C>T (p.Leu921Phe)
|
rs540615950
|
|
NM_003640.5(ELP1):c.2765A>T (p.Asn922Ile)
|
|
|
NM_003640.5(ELP1):c.2768C>T (p.Thr923Ile)
|
|
|
NM_003640.5(ELP1):c.2803A>G (p.Thr935Ala)
|
rs145484092
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2825G>C (p.Arg942Pro)
|
|
|
NM_003640.5(ELP1):c.2828A>G (p.Tyr943Cys)
|
rs924119518
|
|
NM_003640.5(ELP1):c.2852G>C (p.Ser951Thr)
|
|
|
NM_003640.5(ELP1):c.2854A>C (p.Lys952Gln)
|
|
|
NM_003640.5(ELP1):c.2855A>C (p.Lys952Thr)
|
|
|
NM_003640.5(ELP1):c.2864C>G (p.Pro955Arg)
|
rs758112773
|
|
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe)
|
rs1828405751
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2917G>A (p.Glu973Lys)
|
|
|
NM_003640.5(ELP1):c.2936C>T (p.Ser979Leu)
|
rs2131973288
|
|
NM_003640.5(ELP1):c.2958+3A>G
|
rs1828401309
|
|
NM_003640.5(ELP1):c.2958+5G>A
|
|
|
NM_003640.5(ELP1):c.2960A>T (p.Asp987Val)
|
|
|
NM_003640.5(ELP1):c.2969T>C (p.Ile990Thr)
|
|
|
NM_003640.5(ELP1):c.297A>G (p.Thr99=)
|
rs1829937351
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)
|
rs1376166738
|
|
NM_003640.5(ELP1):c.2995G>A (p.Glu999Lys)
|
|
|
NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr)
|
rs144959233
|
|
NM_003640.5(ELP1):c.3005A>G (p.Tyr1002Cys)
|
|
|
NM_003640.5(ELP1):c.300A>T (p.Gln100His)
|
|
|
NM_003640.5(ELP1):c.3011C>T (p.Pro1004Leu)
|
|
|
NM_003640.5(ELP1):c.303+5G>C
|
|
|
NM_003640.5(ELP1):c.3035G>A (p.Cys1012Tyr)
|
|
|
NM_003640.5(ELP1):c.3056T>C (p.Leu1019Pro)
|
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val)
|
rs1226103389
|
|
NM_003640.5(ELP1):c.3071C>G (p.Thr1024Arg)
|
|
|
NM_003640.5(ELP1):c.3101T>A (p.Val1034Glu)
|
|
|
NM_003640.5(ELP1):c.3104C>T (p.Ala1035Val)
|
|
|
NM_003640.5(ELP1):c.3107C>G (p.Ala1036Gly)
|
rs766016072
|
|
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn)
|
rs1554694121
|
|
NM_003640.5(ELP1):c.3128A>G (p.Asp1043Gly)
|
rs1388335304
|
|
NM_003640.5(ELP1):c.3136G>T (p.Val1046Leu)
|
|
|
NM_003640.5(ELP1):c.313G>T (p.Val105Phe)
|
rs764767995
|
|
NM_003640.5(ELP1):c.3145G>C (p.Gly1049Arg)
|
rs761500263
|
|
NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln)
|
|
|
NM_003640.5(ELP1):c.3191A>T (p.Asp1064Val)
|
|
|
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
|
rs972475636
|
|
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)
|
rs758321016
|
|
NM_003640.5(ELP1):c.3209A>G (p.Glu1070Gly)
|
rs376878918
|
|
NM_003640.5(ELP1):c.3214_3215delinsAT (p.Cys1072Ile)
|
rs2131966122
|
|
NM_003640.5(ELP1):c.3215G>A (p.Cys1072Tyr)
|
|
|
NM_003640.5(ELP1):c.3215G>T (p.Cys1072Phe)
|
|
|
NM_003640.5(ELP1):c.3224A>G (p.Asp1075Gly)
|
rs1827955472
|
|
NM_003640.5(ELP1):c.3235G>A (p.Ala1079Thr)
|
|
|
NM_003640.5(ELP1):c.3258A>T (p.Gly1086=)
|
rs2118947272
|
|
NM_003640.5(ELP1):c.3283C>G (p.Leu1095Val)
|
|
|
NM_003640.5(ELP1):c.3284T>C (p.Leu1095Pro)
|
|
|
NM_003640.5(ELP1):c.3294A>C (p.Lys1098Asn)
|
|
|
NM_003640.5(ELP1):c.3296A>T (p.Tyr1099Phe)
|
rs1455391652
|
|
NM_003640.5(ELP1):c.3304C>G (p.Leu1102Val)
|
|
|
NM_003640.5(ELP1):c.3313A>G (p.Ile1105Val)
|
rs2118946082
|
|
NM_003640.5(ELP1):c.3322A>G (p.Asn1108Asp)
|
rs2118946035
|
|
NM_003640.5(ELP1):c.3326T>C (p.Val1109Ala)
|
rs1827936975
|
|
NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu)
|
rs763262745
|
|
NM_003640.5(ELP1):c.3346+3G>A
|
|
|
NM_003640.5(ELP1):c.3357T>G (p.Asn1119Lys)
|
|
|
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)
|
rs1554691848
|
|
NM_003640.5(ELP1):c.3359A>G (p.Tyr1120Cys)
|
|
|
NM_003640.5(ELP1):c.335T>A (p.Ile112Asn)
|
|
|
NM_003640.5(ELP1):c.3363G>C (p.Met1121Ile)
|
rs910335280
|
|
NM_003640.5(ELP1):c.3368T>C (p.Phe1123Ser)
|
rs1587873285
|
|
NM_003640.5(ELP1):c.3375C>G (p.Asp1125Glu)
|
rs753992200
|
|
NM_003640.5(ELP1):c.3395G>T (p.Ser1132Ile)
|
|
|
NM_003640.5(ELP1):c.3397C>A (p.Arg1133Ser)
|
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003640.5(ELP1):c.3460+4_3460+11dup
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)
|
rs886063346
|
|
NM_003640.5(ELP1):c.3482A>G (p.Gln1161Arg)
|
|
|
NM_003640.5(ELP1):c.3490G>A (p.Asp1164Asn)
|
rs1198624688
|
|
NM_003640.5(ELP1):c.3490G>C (p.Asp1164His)
|
|
|
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe)
|
rs144301886
|
|
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=)
|
rs1827834154
|
|
NM_003640.5(ELP1):c.3498C>G (p.Phe1166Leu)
|
|
|
NM_003640.5(ELP1):c.3517G>A (p.Val1173Met)
|
|
|
NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn)
|
rs143008686
|
|
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)
|
rs747272918
|
|
NM_003640.5(ELP1):c.3572+12A>T
|
rs1055164302
|
|
NM_003640.5(ELP1):c.3572+4C>T
|
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572+5G>C
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572+5G>T
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572C>T (p.Ala1191Val)
|
|
|
NM_003640.5(ELP1):c.3573-6T>C
|
|
|
NM_003640.5(ELP1):c.3580T>C (p.Ser1194Pro)
|
rs2118936313
|
|
NM_003640.5(ELP1):c.3586A>G (p.Asn1196Asp)
|
rs1564071274
|
|
NM_003640.5(ELP1):c.3589C>T (p.Arg1197Cys)
|
rs370450007
|
|
NM_003640.5(ELP1):c.3590_3591delinsTA (p.Arg1197Leu)
|
|
|
NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro)
|
rs200322331
|
|
NM_003640.5(ELP1):c.3597A>T (p.Lys1199Asn)
|
rs1827797013
|
|
NM_003640.5(ELP1):c.3599C>T (p.Ala1200Val)
|
|
|
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly)
|
rs879254229
|
|
NM_003640.5(ELP1):c.3605G>A (p.Arg1202Gln)
|
|
|
NM_003640.5(ELP1):c.3609G>T (p.Lys1203Asn)
|
rs2118936145
|
|
NM_003640.5(ELP1):c.3611A>G (p.Lys1204Arg)
|
|
|
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)
|
rs1453695293
|
|
NM_003640.5(ELP1):c.3635C>T (p.Pro1212Leu)
|
|
|
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=)
|
rs780520998
|
|
NM_003640.5(ELP1):c.3643G>A (p.Asp1215Asn)
|
|
|
NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr)
|
rs1827793180
|
|
NM_003640.5(ELP1):c.3650C>G (p.Ala1217Gly)
|
rs1827793018
|
|
NM_003640.5(ELP1):c.3661G>A (p.Ala1221Thr)
|
|
|
NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del)
|
rs1306291143
|
|
NM_003640.5(ELP1):c.3700+3A>G
|
|
|
NM_003640.5(ELP1):c.3707T>C (p.Val1236Ala)
|
|
|
NM_003640.5(ELP1):c.3715A>G (p.Ile1239Val)
|
|
|
NM_003640.5(ELP1):c.3737T>C (p.Phe1246Ser)
|
|
|
NM_003640.5(ELP1):c.3739G>A (p.Glu1247Lys)
|
|
|
NM_003640.5(ELP1):c.374T>C (p.Leu125Pro)
|
|
|
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly)
|
rs760084617
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
NM_003640.5(ELP1):c.3779A>T (p.Glu1260Val)
|
rs1827768156
|
|
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)
|
rs1554691544
|
|
NM_003640.5(ELP1):c.3808C>G (p.Leu1270Val)
|
|
|
NM_003640.5(ELP1):c.3829dup (p.Thr1277fs)
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
NM_003640.5(ELP1):c.385+6C>G
|
|
|
NM_003640.5(ELP1):c.3865C>T (p.Pro1289Ser)
|
|
|
NM_003640.5(ELP1):c.3872C>G (p.Ser1291Cys)
|
rs1827646757
|
|
NM_003640.5(ELP1):c.3874A>C (p.Thr1292Pro)
|
|
|
NM_003640.5(ELP1):c.3880A>G (p.Asn1294Asp)
|
|
|
NM_003640.5(ELP1):c.3901C>G (p.Gln1301Glu)
|
|
|
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg)
|
rs1554737851
|
|
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter)
|
rs780649768
|
|
NM_003640.5(ELP1):c.3925G>T (p.Val1309Phe)
|
|
|
NM_003640.5(ELP1):c.3928C>G (p.Leu1310Val)
|
|
|
NM_003640.5(ELP1):c.3931+1G>A
|
rs143674809
|
|
NM_003640.5(ELP1):c.3931+3_3931+6del
|
rs1827641020
|
|
NM_003640.5(ELP1):c.3932-5T>A
|
|
|
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)
|
rs1554735745
|
|
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)
|
rs1554735745
|
|
NM_003640.5(ELP1):c.3943T>C (p.Phe1315Leu)
|
|
|
NM_003640.5(ELP1):c.3955A>G (p.Lys1319Glu)
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.3979A>T (p.Lys1327Ter)
|
|
|
NM_003640.5(ELP1):c.452A>T (p.Asp151Val)
|
rs1829829317
|
|
NM_003640.5(ELP1):c.461G>C (p.Gly154Ala)
|
rs2132043743
|
|
NM_003640.5(ELP1):c.466+5G>C
|
rs745386940
|
|
NM_003640.5(ELP1):c.467-10del
|
rs750475941
|
|
NM_003640.5(ELP1):c.482T>C (p.Val161Ala)
|
|
|
NM_003640.5(ELP1):c.490G>C (p.Gly164Arg)
|
rs765765951
|
|
NM_003640.5(ELP1):c.508T>G (p.Phe170Val)
|
|
|
NM_003640.5(ELP1):c.509T>C (p.Phe170Ser)
|
|
|
NM_003640.5(ELP1):c.512A>G (p.His171Arg)
|
|
|
NM_003640.5(ELP1):c.515G>A (p.Gly172Glu)
|
rs1829697305
|
|
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly)
|
rs758442235
|
|
NM_003640.5(ELP1):c.546G>A (p.Met182Ile)
|
|
|
NM_003640.5(ELP1):c.548A>C (p.Gln183Pro)
|
|
|
NM_003640.5(ELP1):c.552+2dup
|
rs1554702145
|
|
NM_003640.5(ELP1):c.553-14_553-5del
|
|
|
NM_003640.5(ELP1):c.553-4_553-3del
|
rs757409808
|
|
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu)
|
rs771715592
|
|
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn)
|
rs775011794
|
|
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
|
|
|
NM_003640.5(ELP1):c.581A>G (p.His194Arg)
|
rs1682473914
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro)
|
rs367552387
|
|
NM_003640.5(ELP1):c.605G>A (p.Gly202Glu)
|
|
|
NM_003640.5(ELP1):c.608A>T (p.Asp203Val)
|
rs1829558657
|
|
NM_003640.5(ELP1):c.61C>T (p.Pro21Ser)
|
|
|
NM_003640.5(ELP1):c.626T>C (p.Val209Ala)
|
rs1039834492
|
|
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly)
|
rs541666513
|
|
NM_003640.5(ELP1):c.649+3A>G
|
rs1554701323
|
|
NM_003640.5(ELP1):c.650-18G>T
|
|
|
NM_003640.5(ELP1):c.653C>T (p.Ala218Val)
|
rs1564102159
|
|
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly)
|
rs777975034
|
|
NM_003640.5(ELP1):c.677G>C (p.Arg226Pro)
|
rs758239907
|
|
NM_003640.5(ELP1):c.677G>T (p.Arg226Leu)
|
rs758239907
|
|
NM_003640.5(ELP1):c.67T>C (p.Cys23Arg)
|
|
|
NM_003640.5(ELP1):c.683T>A (p.Phe228Tyr)
|
|
|
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala)
|
rs1356812138
|
|
NM_003640.5(ELP1):c.697A>T (p.Thr233Ser)
|
|
|
NM_003640.5(ELP1):c.741-4T>G
|
rs1829498906
|
|
NM_003640.5(ELP1):c.741-9T>C
|
|
|
NM_003640.5(ELP1):c.74C>T (p.Ser25Phe)
|
rs1829990677
|
|
NM_003640.5(ELP1):c.755T>G (p.Leu252Trp)
|
rs1829498017
|
|
NM_003640.5(ELP1):c.772G>C (p.Asp258His)
|
|
|
NM_003640.5(ELP1):c.779C>A (p.Pro260His)
|
|
|
NM_003640.5(ELP1):c.779C>G (p.Pro260Arg)
|
rs2132028041
|
|
NM_003640.5(ELP1):c.782A>G (p.Asn261Ser)
|
|
|
NM_003640.5(ELP1):c.791A>G (p.Asp264Gly)
|
|
|
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)
|
rs1554700891
|
|
NM_003640.5(ELP1):c.824A>G (p.His275Arg)
|
rs1564100993
|
|
NM_003640.5(ELP1):c.838C>T (p.Leu280Phe)
|
|
|
NM_003640.5(ELP1):c.841C>G (p.Pro281Ala)
|
rs2132027839
|
|
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu)
|
rs770755917
|
|
NM_003640.5(ELP1):c.854A>T (p.Asp285Val)
|
rs1829487738
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.860T>C (p.Val287Ala)
|
rs1031067109
|
|
NM_003640.5(ELP1):c.864+6T>C
|
rs1829486746
|
|
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe)
|
rs1288706972
|
|
NM_003640.5(ELP1):c.916G>A (p.Glu306Lys)
|
|
|
NM_003640.5(ELP1):c.943A>G (p.Ile315Val)
|
|
|
NM_003640.5(ELP1):c.958G>A (p.Val320Ile)
|
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_003640.5(ELP1):c.987C>G (p.His329Gln)
|
rs764033545
|
|
NM_017832.2(ABITRAM):c.-147G>C
|
rs1251331564
|
|