NM_003640.5(ELP1):c.2130+141G>A
|
rs55780406
|
0.02141
|
NM_003640.5(ELP1):c.304-301C>T
|
rs151102621
|
0.01849
|
NM_003640.5(ELP1):c.1854+297A>G
|
rs117286243
|
0.01625
|
NM_003640.5(ELP1):c.3932-281C>G
|
rs118146489
|
0.01615
|
NM_003640.5(ELP1):c.2861-295A>G
|
rs56143112
|
0.01318
|
NM_003640.5(ELP1):c.1644-203G>A
|
rs74699859
|
0.01037
|
NM_003640.5(ELP1):c.150+287T>G
|
rs1001374513
|
0.00950
|
NM_003640.5(ELP1):c.2363+70A>G
|
rs41313339
|
0.00891
|
NM_003640.5(ELP1):c.740+189A>T
|
rs73526118
|
0.00857
|
NM_003640.5(ELP1):c.864+251G>A
|
rs113508452
|
0.00851
|
NM_003640.5(ELP1):c.959-44T>G
|
rs74919405
|
0.00789
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_003640.5(ELP1):c.1854+41C>T
|
rs116141575
|
0.00603
|
NM_003640.5(ELP1):c.1644-155A>G
|
rs565146732
|
0.00530
|
NM_003640.5(ELP1):c.3931+151A>T
|
rs143673059
|
0.00519
|
NM_003640.5(ELP1):c.3461-163G>A
|
rs142241038
|
0.00515
|
NM_003640.5(ELP1):c.1855-38A>G
|
rs114088295
|
0.00508
|
NM_003640.5(ELP1):c.552+215G>A
|
rs142701683
|
0.00477
|
NM_003640.5(ELP1):c.3160+47A>T
|
rs143250122
|
0.00457
|
NM_003640.5(ELP1):c.3931+39A>G
|
rs149721955
|
0.00408
|
NM_003640.5(ELP1):c.2588-143A>T
|
rs73512446
|
0.00374
|
NM_003640.5(ELP1):c.1189+211A>G
|
rs530222422
|
0.00337
|
NM_003640.5(ELP1):c.1750+154A>G
|
rs55778443
|
0.00323
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802
|
0.00277
|
NM_003640.5(ELP1):c.467-38C>A
|
rs147310486
|
0.00239
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392
|
0.00236
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
NM_003640.5(ELP1):c.1143G>A (p.Val381=)
|
rs35936107
|
0.00210
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
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.3347-15A>G
|
rs200154542
|
0.00073
|
NM_003640.5(ELP1):c.1460+16T>A
|
rs146162690
|
0.00044
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
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.909C>G (p.Val303=)
|
rs142420285
|
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.3855+19G>A
|
rs113767921
|
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.2958+29C>T
|
rs141550637
|
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.1075C>T (p.Leu359=)
|
rs2230789
|
0.00018
|
NM_003640.5(ELP1):c.2916C>T (p.Asn972=)
|
rs752886385
|
0.00018
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
NM_003640.5(ELP1):c.1830C>T (p.Thr610=)
|
rs113048987
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_003640.5(ELP1):c.348T>C (p.Ser116=)
|
rs2230787
|
0.00014
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755
|
0.00013
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003640.5(ELP1):c.2577C>T (p.His859=)
|
rs768252666
|
0.00011
|
NM_003640.5(ELP1):c.3573-7C>G
|
rs370571926
|
0.00011
|
NM_003640.5(ELP1):c.3460+13G>A
|
rs149897637
|
0.00010
|
NM_003640.5(ELP1):c.3708A>G (p.Val1236=)
|
rs368761085
|
0.00010
|
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=)
|
rs149038322
|
0.00010
|
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)
|
rs748458910
|
0.00009
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
NM_003640.5(ELP1):c.304-7G>A
|
rs374063549
|
0.00008
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706
|
0.00008
|
NM_003640.5(ELP1):c.150+16A>G
|
rs148164198
|
0.00007
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=)
|
rs371960059
|
0.00007
|
NM_003640.5(ELP1):c.3600G>A (p.Ala1200=)
|
rs769196025
|
0.00007
|
NM_003640.5(ELP1):c.-31G>C
|
rs375962780
|
0.00006
|
NM_003640.5(ELP1):c.1665G>A (p.Gly555=)
|
rs558485897
|
0.00006
|
NM_003640.5(ELP1):c.1854+18A>G
|
rs779969470
|
0.00006
|
NM_003640.5(ELP1):c.1914G>A (p.Ala638=)
|
rs142096497
|
0.00006
|
NM_003640.5(ELP1):c.2588-6T>G
|
rs1350078150
|
0.00006
|
NM_003640.5(ELP1):c.2982G>A (p.Glu994=)
|
rs147870527
|
0.00006
|
NM_003640.5(ELP1):c.740+10A>G
|
rs1346624747
|
0.00006
|
NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys)
|
rs747603780
|
0.00005
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003640.5(ELP1):c.3223-16C>G
|
rs372907186
|
0.00005
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
NM_003640.5(ELP1):c.649+12T>C
|
rs375554772
|
0.00005
|
NM_003640.5(ELP1):c.1444T>C (p.Leu482=)
|
rs753849574
|
0.00004
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
NM_003640.5(ELP1):c.1860T>C (p.Cys620=)
|
rs769936175
|
0.00004
|
NM_003640.5(ELP1):c.1954T>C (p.Leu652=)
|
rs757287712
|
0.00004
|
NM_003640.5(ELP1):c.2205-9T>G
|
rs762448047
|
0.00004
|
NM_003640.5(ELP1):c.246T>C (p.Ser82=)
|
rs1356191121
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.304-5C>T
|
rs370384351
|
0.00004
|
NM_003640.5(ELP1):c.3045C>T (p.His1015=)
|
rs772697433
|
0.00004
|
NM_003640.5(ELP1):c.3060A>G (p.Ser1020=)
|
rs1342216283
|
0.00004
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
NM_003640.5(ELP1):c.3461-8T>C
|
rs778083125
|
0.00004
|
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=)
|
rs781284578
|
0.00004
|
NM_003640.5(ELP1):c.3639G>A (p.Leu1213=)
|
rs377677858
|
0.00004
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
NM_003640.5(ELP1):c.483T>C (p.Val161=)
|
rs537635969
|
0.00004
|
NM_003640.5(ELP1):c.606G>T (p.Gly202=)
|
rs768309637
|
0.00004
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
NM_003640.5(ELP1):c.1335T>C (p.Ser445=)
|
rs777207577
|
0.00003
|
NM_003640.5(ELP1):c.1834T>C (p.Leu612=)
|
rs768084021
|
0.00003
|
NM_003640.5(ELP1):c.2082T>A (p.Gly694=)
|
rs760054484
|
0.00003
|
NM_003640.5(ELP1):c.2097T>C (p.Thr699=)
|
rs144352068
|
0.00003
|
NM_003640.5(ELP1):c.270A>T (p.Gly90=)
|
rs200640674
|
0.00003
|
NM_003640.5(ELP1):c.2748A>G (p.Glu916=)
|
rs200551647
|
0.00003
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
NM_003640.5(ELP1):c.3309T>C (p.Asp1103=)
|
rs1140075
|
0.00003
|
NM_003640.5(ELP1):c.3460+12C>T
|
rs576315331
|
0.00003
|
NM_003640.5(ELP1):c.423G>A (p.Glu141=)
|
rs567960748
|
0.00003
|
NM_003640.5(ELP1):c.579C>T (p.Asp193=)
|
rs766231058
|
0.00003
|
NM_003640.5(ELP1):c.741-8G>A
|
rs962023744
|
0.00003
|
NM_003640.5(ELP1):c.858G>A (p.Glu286=)
|
rs147517999
|
0.00003
|
NM_003640.5(ELP1):c.1437T>G (p.Thr479=)
|
rs1341178262
|
0.00002
|
NM_003640.5(ELP1):c.1470T>C (p.Phe490=)
|
rs768311202
|
0.00002
|
NM_003640.5(ELP1):c.1491T>C (p.Asp497=)
|
rs775020540
|
0.00002
|
NM_003640.5(ELP1):c.1593G>A (p.Leu531=)
|
rs773965613
|
0.00002
|
NM_003640.5(ELP1):c.1839C>T (p.Ala613=)
|
rs774365133
|
0.00002
|
NM_003640.5(ELP1):c.1854+13G>A
|
rs138183089
|
0.00002
|
NM_003640.5(ELP1):c.195G>A (p.Glu65=)
|
rs751267638
|
0.00002
|
NM_003640.5(ELP1):c.2172G>C (p.Leu724=)
|
rs202166505
|
0.00002
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
NM_003640.5(ELP1):c.2880A>G (p.Glu960=)
|
rs779444024
|
0.00002
|
NM_003640.5(ELP1):c.2958+10A>T
|
rs768709875
|
0.00002
|
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=)
|
rs781623768
|
0.00002
|
NM_003640.5(ELP1):c.3036C>T (p.Cys1012=)
|
rs528740327
|
0.00002
|
NM_003640.5(ELP1):c.3072A>G (p.Thr1024=)
|
rs758372070
|
0.00002
|
NM_003640.5(ELP1):c.3160+27A>G
|
rs1341213
|
0.00002
|
NM_003640.5(ELP1):c.3270A>G (p.Glu1090=)
|
rs1487288025
|
0.00002
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
NM_003640.5(ELP1):c.3816A>G (p.Glu1272=)
|
rs145380688
|
0.00002
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
NM_003640.5(ELP1):c.553-8C>G
|
rs530487391
|
0.00002
|
NM_003640.5(ELP1):c.102C>T (p.Leu34=)
|
rs1381472784
|
0.00001
|
NM_003640.5(ELP1):c.1047G>C (p.Leu349=)
|
rs781560088
|
0.00001
|
NM_003640.5(ELP1):c.1065C>T (p.Thr355=)
|
rs1230924720
|
0.00001
|
NM_003640.5(ELP1):c.1080T>C (p.His360=)
|
rs1214789434
|
0.00001
|
NM_003640.5(ELP1):c.1107C>T (p.Leu369=)
|
rs1259460083
|
0.00001
|
NM_003640.5(ELP1):c.1116T>C (p.Asp372=)
|
rs144878787
|
0.00001
|
NM_003640.5(ELP1):c.111A>G (p.Ser37=)
|
rs750185740
|
0.00001
|
NM_003640.5(ELP1):c.1128G>A (p.Thr376=)
|
rs781087704
|
0.00001
|
NM_003640.5(ELP1):c.1176T>C (p.Ala392=)
|
rs753979416
|
0.00001
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
NM_003640.5(ELP1):c.1224G>A (p.Val408=)
|
rs151157900
|
0.00001
|
NM_003640.5(ELP1):c.1251A>G (p.Gln417=)
|
rs763812233
|
0.00001
|
NM_003640.5(ELP1):c.1255C>T (p.Leu419=)
|
rs755790483
|
0.00001
|
NM_003640.5(ELP1):c.1260C>T (p.Phe420=)
|
rs752386597
|
0.00001
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
NM_003640.5(ELP1):c.1284A>T (p.Thr428=)
|
rs946387194
|
0.00001
|
NM_003640.5(ELP1):c.1305G>A (p.Lys435=)
|
rs769900761
|
0.00001
|
NM_003640.5(ELP1):c.1320T>A (p.Ala440=)
|
rs745616203
|
0.00001
|
NM_003640.5(ELP1):c.1323T>C (p.Val441=)
|
rs200925118
|
0.00001
|
NM_003640.5(ELP1):c.1386A>G (p.Thr462=)
|
rs1829093869
|
0.00001
|
NM_003640.5(ELP1):c.1497C>T (p.Asn499=)
|
rs1410534323
|
0.00001
|
NM_003640.5(ELP1):c.150+8dup
|
rs771847077
|
0.00001
|
NM_003640.5(ELP1):c.151-10T>C
|
rs768610434
|
0.00001
|
NM_003640.5(ELP1):c.151-16T>A
|
rs374246294
|
0.00001
|
NM_003640.5(ELP1):c.1542C>T (p.Phe514=)
|
rs267602078
|
0.00001
|
NM_003640.5(ELP1):c.1543C>T (p.Leu515=)
|
rs1193566565
|
0.00001
|
NM_003640.5(ELP1):c.1647A>T (p.Ser549=)
|
rs758761513
|
0.00001
|
NM_003640.5(ELP1):c.1656G>A (p.Ala552=)
|
rs200535861
|
0.00001
|
NM_003640.5(ELP1):c.177A>G (p.Ala59=)
|
rs1298186722
|
0.00001
|
NM_003640.5(ELP1):c.180A>G (p.Glu60=)
|
rs1326806855
|
0.00001
|
NM_003640.5(ELP1):c.1833A>G (p.Glu611=)
|
rs1587898434
|
0.00001
|
NM_003640.5(ELP1):c.186T>C (p.Phe62=)
|
rs752573144
|
0.00001
|
NM_003640.5(ELP1):c.1909-12C>T
|
rs963492786
|
0.00001
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
NM_003640.5(ELP1):c.1938A>G (p.Val646=)
|
rs750906847
|
0.00001
|
NM_003640.5(ELP1):c.1947G>A (p.Glu649=)
|
rs1564088262
|
0.00001
|
NM_003640.5(ELP1):c.1974T>C (p.His658=)
|
rs1308350085
|
0.00001
|
NM_003640.5(ELP1):c.2014+18A>G
|
rs1828800296
|
0.00001
|
NM_003640.5(ELP1):c.2015-20T>C
|
rs760415006
|
0.00001
|
NM_003640.5(ELP1):c.2031G>C (p.Leu677=)
|
rs1315300646
|
0.00001
|
NM_003640.5(ELP1):c.2043T>C (p.His681=)
|
rs147944437
|
0.00001
|
NM_003640.5(ELP1):c.2131-8T>G
|
rs1220473264
|
0.00001
|
NM_003640.5(ELP1):c.2169C>T (p.Ala723=)
|
rs1221473738
|
0.00001
|
NM_003640.5(ELP1):c.2193G>A (p.Lys731=)
|
rs1828700001
|
0.00001
|
NM_003640.5(ELP1):c.2205-5C>T
|
rs990520942
|
0.00001
|
NM_003640.5(ELP1):c.2274T>C (p.His758=)
|
rs751132422
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.2364-12A>C
|
rs1828595619
|
0.00001
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
NM_003640.5(ELP1):c.2373T>C (p.Asp791=)
|
rs1477728054
|
0.00001
|
NM_003640.5(ELP1):c.2394T>C (p.Pro798=)
|
rs138819925
|
0.00001
|
NM_003640.5(ELP1):c.2454T>C (p.Leu818=)
|
rs893395625
|
0.00001
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
NM_003640.5(ELP1):c.2501+8T>C
|
rs189797561
|
0.00001
|
NM_003640.5(ELP1):c.2502-13C>T
|
rs138510668
|
0.00001
|
NM_003640.5(ELP1):c.2502-18C>T
|
rs776675315
|
0.00001
|
NM_003640.5(ELP1):c.2502-7A>G
|
rs372939186
|
0.00001
|
NM_003640.5(ELP1):c.2529T>C (p.His843=)
|
rs757233952
|
0.00001
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
NM_003640.5(ELP1):c.2588-13T>C
|
rs771396300
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.2730A>G (p.Ser910=)
|
rs1183324668
|
0.00001
|
NM_003640.5(ELP1):c.2736+16A>T
|
rs200522819
|
0.00001
|
NM_003640.5(ELP1):c.273C>T (p.Asp91=)
|
rs772231917
|
0.00001
|
NM_003640.5(ELP1):c.2742C>T (p.Pro914=)
|
rs1241171896
|
0.00001
|
NM_003640.5(ELP1):c.2757A>G (p.Pro919=)
|
rs752259389
|
0.00001
|
NM_003640.5(ELP1):c.2772T>G (p.Leu924=)
|
rs754622407
|
0.00001
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
NM_003640.5(ELP1):c.2861-6C>T
|
rs779426934
|
0.00001
|
NM_003640.5(ELP1):c.2871C>T (p.Tyr957=)
|
rs745494653
|
0.00001
|
NM_003640.5(ELP1):c.291C>A (p.Leu97=)
|
rs1829937643
|
0.00001
|
NM_003640.5(ELP1):c.2922T>A (p.Ala974=)
|
rs1828403034
|
0.00001
|
NM_003640.5(ELP1):c.2959-8T>C
|
rs763776119
|
0.00001
|
NM_003640.5(ELP1):c.2959-9T>C
|
rs1395219994
|
0.00001
|
NM_003640.5(ELP1):c.3012A>G (p.Pro1004=)
|
rs770000077
|
0.00001
|
NM_003640.5(ELP1):c.303+11G>A
|
rs549703822
|
0.00001
|
NM_003640.5(ELP1):c.304-18C>T
|
rs147293637
|
0.00001
|
NM_003640.5(ELP1):c.3063C>T (p.Ala1021=)
|
rs1267849190
|
0.00001
|
NM_003640.5(ELP1):c.3129C>T (p.Asp1043=)
|
rs772768117
|
0.00001
|
NM_003640.5(ELP1):c.3132G>A (p.Gln1044=)
|
rs1174806746
|
0.00001
|
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)
|
rs764867856
|
0.00001
|
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=)
|
rs1315617472
|
0.00001
|
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=)
|
rs544766218
|
0.00001
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
NM_003640.5(ELP1):c.3222+10A>G
|
rs770916141
|
0.00001
|
NM_003640.5(ELP1):c.3222+8C>G
|
rs1159708225
|
0.00001
|
NM_003640.5(ELP1):c.3223-10C>G
|
rs753410907
|
0.00001
|
NM_003640.5(ELP1):c.3223-9C>T
|
rs777231662
|
0.00001
|
NM_003640.5(ELP1):c.3249G>C (p.Leu1083=)
|
rs759873552
|
0.00001
|
NM_003640.5(ELP1):c.3321C>T (p.Thr1107=)
|
rs1440207150
|
0.00001
|
NM_003640.5(ELP1):c.3354A>G (p.Lys1118=)
|
rs1210871913
|
0.00001
|
NM_003640.5(ELP1):c.3378T>C (p.Ser1126=)
|
rs764056417
|
0.00001
|
NM_003640.5(ELP1):c.3461-9C>G
|
rs995554626
|
0.00001
|
NM_003640.5(ELP1):c.3489A>C (p.Ser1163=)
|
rs765087809
|
0.00001
|
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)
|
rs199617076
|
0.00001
|
NM_003640.5(ELP1):c.3516C>T (p.Val1172=)
|
rs371811911
|
0.00001
|
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=)
|
rs780520998
|
0.00001
|
NM_003640.5(ELP1):c.3701-10T>G
|
rs1827773831
|
0.00001
|
NM_003640.5(ELP1):c.3714T>C (p.His1238=)
|
rs749975442
|
0.00001
|
NM_003640.5(ELP1):c.3783T>C (p.Asp1261=)
|
rs1473679154
|
0.00001
|
NM_003640.5(ELP1):c.3786G>A (p.Thr1262=)
|
rs775118324
|
0.00001
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
NM_003640.5(ELP1):c.385+7T>C
|
rs747004579
|
0.00001
|
NM_003640.5(ELP1):c.3856-6C>T
|
rs1159420429
|
0.00001
|
NM_003640.5(ELP1):c.3859C>T (p.Leu1287=)
|
rs1191442185
|
0.00001
|
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=)
|
rs772800681
|
0.00001
|
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=)
|
rs146862778
|
0.00001
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
NM_003640.5(ELP1):c.3931+8T>C
|
rs1419758592
|
0.00001
|
NM_003640.5(ELP1):c.3987C>T (p.Ser1329=)
|
rs144816863
|
0.00001
|
NM_003640.5(ELP1):c.466+7A>G
|
rs1242699541
|
0.00001
|
NM_003640.5(ELP1):c.552+12T>C
|
rs762061745
|
0.00001
|
NM_003640.5(ELP1):c.624T>C (p.Ala208=)
|
rs772320418
|
0.00001
|
NM_003640.5(ELP1):c.663C>T (p.Val221=)
|
rs1453507748
|
0.00001
|
NM_003640.5(ELP1):c.717A>C (p.Gly239=)
|
rs1333495798
|
0.00001
|
NM_003640.5(ELP1):c.744C>G (p.Pro248=)
|
rs777540385
|
0.00001
|
NM_003640.5(ELP1):c.768A>G (p.Thr256=)
|
rs985459923
|
0.00001
|
NM_003640.5(ELP1):c.813T>C (p.Asn271=)
|
rs1829489780
|
0.00001
|
NM_003640.5(ELP1):c.843C>T (p.Pro281=)
|
rs1377438174
|
0.00001
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
NM_003640.5(ELP1):c.924T>C (p.Leu308=)
|
rs776506989
|
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.958+7C>T
|
rs771601576
|
0.00001
|
NM_003640.5(ELP1):c.958+8A>T
|
rs745559487
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
NM_003640.5(ELP1):c.96G>A (p.Thr32=)
|
rs748202041
|
0.00001
|
NM_003640.5(ELP1):c.-155A>T
|
rs117100816
|
|
NM_003640.5(ELP1):c.1002A>G (p.Gln334=)
|
|
|
NM_003640.5(ELP1):c.1008A>G (p.Leu336=)
|
|
|
NM_003640.5(ELP1):c.1017C>T (p.Ser339=)
|
|
|
NM_003640.5(ELP1):c.1020C>T (p.Thr340=)
|
|
|
NM_003640.5(ELP1):c.1035G>A (p.Lys345=)
|
|
|
NM_003640.5(ELP1):c.1047G>T (p.Leu349=)
|
|
|
NM_003640.5(ELP1):c.1072C>A (p.Arg358=)
|
|
|
NM_003640.5(ELP1):c.1077G>A (p.Leu359=)
|
|
|
NM_003640.5(ELP1):c.1083T>C (p.Val361=)
|
|
|
NM_003640.5(ELP1):c.1086C>T (p.Leu362=)
|
rs765911613
|
|
NM_003640.5(ELP1):c.1095C>A (p.Gly365=)
|
|
|
NM_003640.5(ELP1):c.1107C>G (p.Leu369=)
|
|
|
NM_003640.5(ELP1):c.1113T>C (p.Tyr371=)
|
|
|
NM_003640.5(ELP1):c.1128G>C (p.Thr376=)
|
rs781087704
|
|
NM_003640.5(ELP1):c.1128G>T (p.Thr376=)
|
rs781087704
|
|
NM_003640.5(ELP1):c.1137G>A (p.Arg379=)
|
|
|
NM_003640.5(ELP1):c.1140C>T (p.Ser380=)
|
rs771575205
|
|
NM_003640.5(ELP1):c.1155A>G (p.Ser385=)
|
|
|
NM_003640.5(ELP1):c.1161C>T (p.Asp387=)
|
|
|
NM_003640.5(ELP1):c.1170T>C (p.Asn390=)
|
|
|
NM_003640.5(ELP1):c.117T>C (p.His39=)
|
rs2132052817
|
|
NM_003640.5(ELP1):c.1189+16G>A
|
|
|
NM_003640.5(ELP1):c.1189+16G>C
|
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
NM_003640.5(ELP1):c.1189+7T>C
|
rs2132016301
|
|
NM_003640.5(ELP1):c.1190-12T>C
|
|
|
NM_003640.5(ELP1):c.1190-14_1190-11del
|
|
|
NM_003640.5(ELP1):c.1190-6C>T
|
rs1340978905
|
|
NM_003640.5(ELP1):c.1190-8C>T
|
|
|
NM_003640.5(ELP1):c.1190-9T>A
|
|
|
NM_003640.5(ELP1):c.1197G>A (p.Val399=)
|
|
|
NM_003640.5(ELP1):c.1206A>G (p.Thr402=)
|
rs2132014080
|
|
NM_003640.5(ELP1):c.1215G>T (p.Arg405=)
|
|
|
NM_003640.5(ELP1):c.1224G>C (p.Val408=)
|
|
|
NM_003640.5(ELP1):c.1236C>T (p.Pro412=)
|
|
|
NM_003640.5(ELP1):c.1242C>T (p.Cys414=)
|
rs1233980811
|
|
NM_003640.5(ELP1):c.1272G>T (p.Val424=)
|
|
|
NM_003640.5(ELP1):c.1281C>T (p.Val427=)
|
rs2132013769
|
|
NM_003640.5(ELP1):c.1293A>G (p.Ala431=)
|
|
|
NM_003640.5(ELP1):c.1296C>T (p.His432=)
|
|
|
NM_003640.5(ELP1):c.12G>C (p.Leu4=)
|
|
|
NM_003640.5(ELP1):c.1326A>G (p.Leu442=)
|
|
|
NM_003640.5(ELP1):c.1332C>T (p.Ala444=)
|
|
|
NM_003640.5(ELP1):c.1344T>C (p.Ile448=)
|
|
|
NM_003640.5(ELP1):c.1353T>C (p.Tyr451=)
|
|
|
NM_003640.5(ELP1):c.135C>T (p.Asp45=)
|
|
|
NM_003640.5(ELP1):c.1360+10A>G
|
rs1587907182
|
|
NM_003640.5(ELP1):c.1360+15T>C
|
|
|
NM_003640.5(ELP1):c.1360+15T>G
|
|
|
NM_003640.5(ELP1):c.1360+20C>T
|
|
|
NM_003640.5(ELP1):c.1360+8A>G
|
|
|
NM_003640.5(ELP1):c.1360+9dup
|
rs2132013416
|
|
NM_003640.5(ELP1):c.1361-10T>C
|
rs2132007961
|
|
NM_003640.5(ELP1):c.1361-15A>G
|
|
|
NM_003640.5(ELP1):c.1361-17G>A
|
|
|
NM_003640.5(ELP1):c.1371A>G (p.Pro457=)
|
rs1390004137
|
|
NM_003640.5(ELP1):c.1371A>T (p.Pro457=)
|
rs1390004137
|
|
NM_003640.5(ELP1):c.1377T>C (p.Ala459=)
|
|
|
NM_003640.5(ELP1):c.1380C>T (p.Asp460=)
|
|
|
NM_003640.5(ELP1):c.1383T>C (p.Pro461=)
|
|
|
NM_003640.5(ELP1):c.1416A>G (p.Gly472=)
|
rs1587904647
|
|
NM_003640.5(ELP1):c.144A>G (p.Ser48=)
|
|
|
NM_003640.5(ELP1):c.1460+11A>T
|
|
|
NM_003640.5(ELP1):c.1460+13T>G
|
|
|
NM_003640.5(ELP1):c.1460+17C>A
|
|
|
NM_003640.5(ELP1):c.1460+17C>G
|
|
|
NM_003640.5(ELP1):c.1460+17C>T
|
|
|
NM_003640.5(ELP1):c.1460+19T>C
|
|
|
NM_003640.5(ELP1):c.1460+8C>G
|
|
|
NM_003640.5(ELP1):c.1460+9T>A
|
rs760949924
|
|
NM_003640.5(ELP1):c.1461-11A>G
|
|
|
NM_003640.5(ELP1):c.1461-6C>T
|
rs2132003743
|
|
NM_003640.5(ELP1):c.1461-7A>G
|
rs762657303
|
|
NM_003640.5(ELP1):c.1464C>T (p.Ile488=)
|
|
|
NM_003640.5(ELP1):c.1467G>A (p.Gln489=)
|
|
|
NM_003640.5(ELP1):c.150+10T>C
|
|
|
NM_003640.5(ELP1):c.150+13T>C
|
|
|
NM_003640.5(ELP1):c.150+14G>A
|
|
|
NM_003640.5(ELP1):c.150+8A>C
|
rs1306503405
|
|
NM_003640.5(ELP1):c.1500G>A (p.Pro500=)
|
rs749837963
|
|
NM_003640.5(ELP1):c.1506A>G (p.Lys502=)
|
|
|
NM_003640.5(ELP1):c.151-14T>C
|
|
|
NM_003640.5(ELP1):c.151-2del
|
rs1439727159
|
|
NM_003640.5(ELP1):c.151-9T>C
|
rs747310144
|
|
NM_003640.5(ELP1):c.1515T>G (p.Leu505=)
|
|
|
NM_003640.5(ELP1):c.1527T>C (p.Ile509=)
|
|
|
NM_003640.5(ELP1):c.1539C>G (p.Val513=)
|
|
|
NM_003640.5(ELP1):c.1539C>T (p.Val513=)
|
rs765163631
|
|
NM_003640.5(ELP1):c.1548T>C (p.Ala516=)
|
|
|
NM_003640.5(ELP1):c.1551A>C (p.Val517=)
|
|
|
NM_003640.5(ELP1):c.1557C>T (p.His519=)
|
rs764067957
|
|
NM_003640.5(ELP1):c.1563G>A (p.Glu521=)
|
rs969266362
|
|
NM_003640.5(ELP1):c.1566C>T (p.Phe522=)
|
|
|
NM_003640.5(ELP1):c.1569C>T (p.Ser523=)
|
rs768796350
|
|
NM_003640.5(ELP1):c.1581C>G (p.Val527=)
|
|
|
NM_003640.5(ELP1):c.1587C>T (p.His529=)
|
|
|
NM_003640.5(ELP1):c.15A>G (p.Lys5=)
|
|
|
NM_003640.5(ELP1):c.1623G>A (p.Glu541=)
|
rs1670127805
|
|
NM_003640.5(ELP1):c.1626T>C (p.His542=)
|
|
|
NM_003640.5(ELP1):c.1629A>G (p.Gly543=)
|
rs954539305
|
|
NM_003640.5(ELP1):c.1632G>A (p.Gln544=)
|
|
|
NM_003640.5(ELP1):c.1643+10T>A
|
|
|
NM_003640.5(ELP1):c.1643+14T>C
|
|
|
NM_003640.5(ELP1):c.1643+16C>T
|
|
|
NM_003640.5(ELP1):c.1643+18del
|
rs2132003038
|
|
NM_003640.5(ELP1):c.1643+7C>T
|
rs1231114175
|
|
NM_003640.5(ELP1):c.1643+9G>A
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
NM_003640.5(ELP1):c.1644-15C>G
|
|
|
NM_003640.5(ELP1):c.1644-16T>C
|
|
|
NM_003640.5(ELP1):c.1644-16del
|
|
|
NM_003640.5(ELP1):c.1644-20C>T
|
|
|
NM_003640.5(ELP1):c.1644-20_1644-17del
|
|
|
NM_003640.5(ELP1):c.1644-5G>A
|
rs747025041
|
|
NM_003640.5(ELP1):c.1644-5G>T
|
rs747025041
|
|
NM_003640.5(ELP1):c.1644-9T>C
|
|
|
NM_003640.5(ELP1):c.1647A>G (p.Ser549=)
|
|
|
NM_003640.5(ELP1):c.1650T>C (p.Ser550=)
|
|
|
NM_003640.5(ELP1):c.1656G>T (p.Ala552=)
|
rs200535861
|
|
NM_003640.5(ELP1):c.165T>C (p.Val55=)
|
rs2132050199
|
|
NM_003640.5(ELP1):c.165T>G (p.Val55=)
|
|
|
NM_003640.5(ELP1):c.1680A>G (p.Leu560=)
|
|
|
NM_003640.5(ELP1):c.1683T>C (p.Cys561=)
|
rs2131996867
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
NM_003640.5(ELP1):c.1707A>G (p.Val569=)
|
|
|
NM_003640.5(ELP1):c.1722T>C (p.Ala574=)
|
rs2131996768
|
|
NM_003640.5(ELP1):c.1737T>C (p.Phe579=)
|
rs2131996743
|
|
NM_003640.5(ELP1):c.1740G>A (p.Lys580=)
|
|
|
NM_003640.5(ELP1):c.1750+16T>G
|
|
|
NM_003640.5(ELP1):c.1750+19G>A
|
|
|
NM_003640.5(ELP1):c.1750+9C>A
|
|
|
NM_003640.5(ELP1):c.1750+9C>G
|
rs1828896199
|
|
NM_003640.5(ELP1):c.1751-10A>C
|
|
|
NM_003640.5(ELP1):c.1751-15C>T
|
|
|
NM_003640.5(ELP1):c.1751-16T>C
|
|
|
NM_003640.5(ELP1):c.1773A>G (p.Lys591=)
|
|
|
NM_003640.5(ELP1):c.1776A>G (p.Pro592=)
|
|
|
NM_003640.5(ELP1):c.1788T>C (p.Ser596=)
|
|
|
NM_003640.5(ELP1):c.1791T>C (p.Gly597=)
|
|
|
NM_003640.5(ELP1):c.1800T>C (p.Pro600=)
|
|
|
NM_003640.5(ELP1):c.1821C>T (p.Cys607=)
|
|
|
NM_003640.5(ELP1):c.1836G>A (p.Leu612=)
|
|
|
NM_003640.5(ELP1):c.1854+11A>G
|
|
|
NM_003640.5(ELP1):c.1854+12C>T
|
|
|
NM_003640.5(ELP1):c.1854+19G>A
|
|
|
NM_003640.5(ELP1):c.1854+7G>A
|
|
|
NM_003640.5(ELP1):c.1854+7G>C
|
rs2131994977
|
|
NM_003640.5(ELP1):c.1855-18A>C
|
|
|
NM_003640.5(ELP1):c.1855-18A>T
|
|
|
NM_003640.5(ELP1):c.1855-4G>C
|
rs1262458155
|
|
NM_003640.5(ELP1):c.1870C>T (p.Leu624=)
|
|
|
NM_003640.5(ELP1):c.1872G>A (p.Leu624=)
|
|
|
NM_003640.5(ELP1):c.1881G>A (p.Arg627=)
|
|
|
NM_003640.5(ELP1):c.1893C>T (p.Phe631=)
|
rs1038922476
|
|
NM_003640.5(ELP1):c.189C>G (p.Leu63=)
|
rs2230786
|
|
NM_003640.5(ELP1):c.1908+19G>T
|
|
|
NM_003640.5(ELP1):c.1908+9G>T
|
|
|
NM_003640.5(ELP1):c.1909-10T>C
|
rs2131992149
|
|
NM_003640.5(ELP1):c.1909-14G>A
|
rs2131992163
|
|
NM_003640.5(ELP1):c.1909-14G>T
|
|
|
NM_003640.5(ELP1):c.1909-17C>T
|
|
|
NM_003640.5(ELP1):c.1909-7C>T
|
rs2131992129
|
|
NM_003640.5(ELP1):c.1909-8T>C
|
rs2131992137
|
|
NM_003640.5(ELP1):c.1909-9C>T
|
rs2131992144
|
|
NM_003640.5(ELP1):c.1929A>G (p.Ser643=)
|
|
|
NM_003640.5(ELP1):c.1935A>G (p.Ala645=)
|
rs2131992030
|
|
NM_003640.5(ELP1):c.1938A>T (p.Val646=)
|
rs750906847
|
|
NM_003640.5(ELP1):c.1953A>G (p.Leu651=)
|
|
|
NM_003640.5(ELP1):c.1962A>G (p.Thr654=)
|
rs2131991951
|
|
NM_003640.5(ELP1):c.1971C>T (p.Ser657=)
|
rs1000043423
|
|
NM_003640.5(ELP1):c.1989T>C (p.Phe663=)
|
|
|
NM_003640.5(ELP1):c.1995G>A (p.Leu665=)
|
|
|
NM_003640.5(ELP1):c.2004T>C (p.Ala668=)
|
|
|
NM_003640.5(ELP1):c.2007A>G (p.Ser669=)
|
rs1828801329
|
|
NM_003640.5(ELP1):c.2014+10C>A
|
rs1271477038
|
|
NM_003640.5(ELP1):c.2014+10C>T
|
|
|
NM_003640.5(ELP1):c.2014+11A>G
|
|
|
NM_003640.5(ELP1):c.2014+12A>G
|
|
|
NM_003640.5(ELP1):c.2014+12A>T
|
|
|
NM_003640.5(ELP1):c.2014+13T>C
|
|
|
NM_003640.5(ELP1):c.2014+14G>C
|
|
|
NM_003640.5(ELP1):c.2014+19A>G
|
|
|
NM_003640.5(ELP1):c.2014+75C>A
|
rs2275631
|
|
NM_003640.5(ELP1):c.2014+8T>G
|
rs2131991758
|
|
NM_003640.5(ELP1):c.2014+9T>C
|
rs2131991753
|
|
NM_003640.5(ELP1):c.2015-10GT[2]
|
|
|
NM_003640.5(ELP1):c.2015-11G>C
|
|
|
NM_003640.5(ELP1):c.2017T>C (p.Leu673=)
|
rs1182348530
|
|
NM_003640.5(ELP1):c.2019A>G (p.Leu673=)
|
rs2131988824
|
|
NM_003640.5(ELP1):c.2025C>A (p.Ala675=)
|
rs200532312
|
|
NM_003640.5(ELP1):c.2025C>G (p.Ala675=)
|
|
|
NM_003640.5(ELP1):c.2031G>A (p.Leu677=)
|
rs1315300646
|
|
NM_003640.5(ELP1):c.2034C>T (p.Ser678=)
|
rs2131988767
|
|
NM_003640.5(ELP1):c.2052T>C (p.His684=)
|
|
|
NM_003640.5(ELP1):c.2055G>A (p.Gly685=)
|
|
|
NM_003640.5(ELP1):c.2058A>G (p.Glu686=)
|
|
|
NM_003640.5(ELP1):c.2065C>A (p.Arg689=)
|
rs201390288
|
|
NM_003640.5(ELP1):c.2070A>G (p.Lys690=)
|
rs2131988616
|
|
NM_003640.5(ELP1):c.2079G>A (p.Arg693=)
|
|
|
NM_003640.5(ELP1):c.2088G>A (p.Arg696=)
|
|
|
NM_003640.5(ELP1):c.209G>A (p.Arg70His)
|
rs111936933
|
|
NM_003640.5(ELP1):c.210C>A (p.Arg70=)
|
|
|
NM_003640.5(ELP1):c.210C>T (p.Arg70=)
|
rs768826752
|
|
NM_003640.5(ELP1):c.2115A>C (p.Thr705=)
|
rs2131988404
|
|
NM_003640.5(ELP1):c.2124A>G (p.Val708=)
|
|
|
NM_003640.5(ELP1):c.2130+10T>G
|
|
|
NM_003640.5(ELP1):c.2130+16A>G
|
|
|
NM_003640.5(ELP1):c.2130+18A>T
|
|
|
NM_003640.5(ELP1):c.2130+20A>C
|
|
|
NM_003640.5(ELP1):c.2130+9G>T
|
rs2131988347
|
|
NM_003640.5(ELP1):c.2131-19C>T
|
|
|
NM_003640.5(ELP1):c.2131-20A>G
|
|
|
NM_003640.5(ELP1):c.2131-6T>C
|
|
|
NM_003640.5(ELP1):c.2131-8T>C
|
|
|
NM_003640.5(ELP1):c.2151A>G (p.Glu717=)
|
|
|
NM_003640.5(ELP1):c.2176T>C (p.Leu726=)
|
rs2131987533
|
|
NM_003640.5(ELP1):c.2197T>C (p.Leu733=)
|
|
|
NM_003640.5(ELP1):c.2199G>A (p.Leu733=)
|
|
|
NM_003640.5(ELP1):c.219T>C (p.Gly73=)
|
rs1482293693
|
|
NM_003640.5(ELP1):c.219T>G (p.Gly73=)
|
rs1482293693
|
|
NM_003640.5(ELP1):c.2204+10A>G
|
rs960701293
|
|
NM_003640.5(ELP1):c.2204+13G>A
|
|
|
NM_003640.5(ELP1):c.2204+14T>C
|
|
|
NM_003640.5(ELP1):c.2204+18G>A
|
|
|
NM_003640.5(ELP1):c.2204+7G>A
|
rs1480239099
|
|
NM_003640.5(ELP1):c.2204+8C>G
|
|
|
NM_003640.5(ELP1):c.2205-12G>A
|
|
|
NM_003640.5(ELP1):c.2205-4A>G
|
|
|
NM_003640.5(ELP1):c.2205-9T>C
|
|
|
NM_003640.5(ELP1):c.2220G>A (p.Glu740=)
|
rs2131985204
|
|
NM_003640.5(ELP1):c.2223A>G (p.Ala741=)
|
|
|
NM_003640.5(ELP1):c.2232C>T (p.Cys744=)
|
|
|
NM_003640.5(ELP1):c.2256C>G (p.Leu752=)
|
rs748119170
|
|
NM_003640.5(ELP1):c.2262G>A (p.Leu754=)
|
|
|
NM_003640.5(ELP1):c.2277C>T (p.Asn759=)
|
|
|
NM_003640.5(ELP1):c.2283+10T>C
|
rs966574953
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
NM_003640.5(ELP1):c.2283+17T>A
|
|
|
NM_003640.5(ELP1):c.2284-11T>C
|
|
|
NM_003640.5(ELP1):c.2284-12T>C
|
|
|
NM_003640.5(ELP1):c.2284-14C>T
|
|
|
NM_003640.5(ELP1):c.2284-17T>C
|
|
|
NM_003640.5(ELP1):c.2284-19T>G
|
|
|
NM_003640.5(ELP1):c.2284-4G>A
|
|
|
NM_003640.5(ELP1):c.2284-4G>C
|
rs1240982391
|
|
NM_003640.5(ELP1):c.2284-5G>T
|
|
|
NM_003640.5(ELP1):c.2284-9T>C
|
rs746925432
|
|
NM_003640.5(ELP1):c.2322A>T (p.Ile774=)
|
rs1427912191
|
|
NM_003640.5(ELP1):c.2328T>C (p.Ser776=)
|
rs754322219
|
|
NM_003640.5(ELP1):c.2340T>C (p.Ile780=)
|
rs2131984565
|
|
NM_003640.5(ELP1):c.2359T>C (p.Leu787=)
|
rs931451775
|
|
NM_003640.5(ELP1):c.2363+14A>G
|
rs2131984488
|
|
NM_003640.5(ELP1):c.2363+18T>G
|
|
|
NM_003640.5(ELP1):c.2363+20del
|
|
|
NM_003640.5(ELP1):c.2364-10C>G
|
|
|
NM_003640.5(ELP1):c.2364-17T>C
|
|
|
NM_003640.5(ELP1):c.2364-18A>G
|
|
|
NM_003640.5(ELP1):c.2364-4T>C
|
rs2131982261
|
|
NM_003640.5(ELP1):c.2376C>T (p.Val792=)
|
|
|
NM_003640.5(ELP1):c.2379G>A (p.Thr793=)
|
rs1158825223
|
|
NM_003640.5(ELP1):c.2385C>T (p.Thr795=)
|
rs1587891555
|
|
NM_003640.5(ELP1):c.2391C>T (p.Tyr797=)
|
|
|
NM_003640.5(ELP1):c.2394T>G (p.Pro798=)
|
rs138819925
|
|
NM_003640.5(ELP1):c.2397A>C (p.Ala799=)
|
|
|
NM_003640.5(ELP1):c.2397A>G (p.Ala799=)
|
rs2131982046
|
|
NM_003640.5(ELP1):c.2406C>G (p.Thr802=)
|
|
|
NM_003640.5(ELP1):c.2412T>C (p.Ser804=)
|
|
|
NM_003640.5(ELP1):c.2415C>T (p.Val805=)
|
rs2131981981
|
|
NM_003640.5(ELP1):c.2424C>T (p.Ser808=)
|
rs1227586609
|
|
NM_003640.5(ELP1):c.2427G>A (p.Arg809=)
|
|
|
NM_003640.5(ELP1):c.2433T>C (p.Pro811=)
|
rs1361966261
|
|
NM_003640.5(ELP1):c.2445A>G (p.Lys815=)
|
|
|
NM_003640.5(ELP1):c.2457C>G (p.Val819=)
|
|
|
NM_003640.5(ELP1):c.2457C>T (p.Val819=)
|
rs2131981786
|
|
NM_003640.5(ELP1):c.2466T>G (p.Ala822=)
|
rs1299382058
|
|
NM_003640.5(ELP1):c.2475A>G (p.Ala825=)
|
|
|
NM_003640.5(ELP1):c.249G>C (p.Val83=)
|
|
|
NM_003640.5(ELP1):c.249G>T (p.Val83=)
|
|
|
NM_003640.5(ELP1):c.24G>A (p.Arg8=)
|
|
|
NM_003640.5(ELP1):c.2501+7A>G
|
|
|
NM_003640.5(ELP1):c.2502-5C>T
|
|
|
NM_003640.5(ELP1):c.2502-6C>T
|
rs2131981328
|
|
NM_003640.5(ELP1):c.2502-9T>C
|
rs2131981338
|
|
NM_003640.5(ELP1):c.2505C>T (p.Tyr835=)
|
rs1564084140
|
|
NM_003640.5(ELP1):c.2508C>T (p.Cys836=)
|
|
|
NM_003640.5(ELP1):c.2511A>G (p.Leu837=)
|
|
|
NM_003640.5(ELP1):c.2523A>G (p.Thr841=)
|
rs1587891082
|
|
NM_003640.5(ELP1):c.2532A>G (p.Val844=)
|
|
|
NM_003640.5(ELP1):c.2544C>G (p.Thr848=)
|
rs568514698
|
|
NM_003640.5(ELP1):c.2544C>T (p.Thr848=)
|
rs568514698
|
|
NM_003640.5(ELP1):c.2568A>G (p.Gln856=)
|
|
|
NM_003640.5(ELP1):c.2574A>T (p.Val858=)
|
|
|
NM_003640.5(ELP1):c.2587+11G>A
|
|
|
NM_003640.5(ELP1):c.2587+11G>T
|
|
|
NM_003640.5(ELP1):c.2587+16C>T
|
|
|
NM_003640.5(ELP1):c.2587+17A>G
|
|
|
NM_003640.5(ELP1):c.2587+18G>A
|
|
|
NM_003640.5(ELP1):c.2587+20G>A
|
|
|
NM_003640.5(ELP1):c.2587+8T>C
|
|
|
NM_003640.5(ELP1):c.2588-11_2588-10insAC
|
rs1587890642
|
|
NM_003640.5(ELP1):c.2588-17T>A
|
|
|
NM_003640.5(ELP1):c.2588-5G>A
|
rs749793495
|
|
NM_003640.5(ELP1):c.2588-6T>C
|
rs1350078150
|
|
NM_003640.5(ELP1):c.2588-8A>G
|
rs2131980380
|
|
NM_003640.5(ELP1):c.2588-8A>T
|
rs2131980380
|
|
NM_003640.5(ELP1):c.2588-9C>T
|
|
|
NM_003640.5(ELP1):c.2595T>G (p.Ala865=)
|
rs1302575693
|
|
NM_003640.5(ELP1):c.2610T>C (p.Asp870=)
|
rs2131980289
|
|
NM_003640.5(ELP1):c.2628G>A (p.Glu876=)
|
rs1222355789
|
|
NM_003640.5(ELP1):c.2640T>C (p.Tyr880=)
|
rs180790273
|
|
NM_003640.5(ELP1):c.2649T>C (p.His883=)
|
rs2131980207
|
|
NM_003640.5(ELP1):c.2652G>A (p.Leu884=)
|
|
|
NM_003640.5(ELP1):c.2658T>C (p.Asp886=)
|
|
|
NM_003640.5(ELP1):c.2664T>C (p.Asn888=)
|
rs2131980150
|
|
NM_003640.5(ELP1):c.2670A>G (p.Leu890=)
|
|
|
NM_003640.5(ELP1):c.2682T>A (p.Ser894=)
|
rs1450438662
|
|
NM_003640.5(ELP1):c.2688C>G (p.Gly896=)
|
rs2131980110
|
|
NM_003640.5(ELP1):c.2688C>T (p.Gly896=)
|
|
|
NM_003640.5(ELP1):c.2691C>T (p.Thr897=)
|
|
|
NM_003640.5(ELP1):c.2697C>T (p.Asp899=)
|
|
|
NM_003640.5(ELP1):c.2700T>C (p.Phe900=)
|
rs2131980100
|
|
NM_003640.5(ELP1):c.2709C>T (p.Val903=)
|
|
|
NM_003640.5(ELP1):c.2727G>A (p.Lys909=)
|
rs2131980049
|
|
NM_003640.5(ELP1):c.2736+12T>C
|
|
|
NM_003640.5(ELP1):c.2736+8G>C
|
|
|
NM_003640.5(ELP1):c.2737-10A>C
|
rs2131975523
|
|
NM_003640.5(ELP1):c.2737-15T>G
|
|
|
NM_003640.5(ELP1):c.2737-17A>G
|
|
|
NM_003640.5(ELP1):c.2737-18C>T
|
|
|
NM_003640.5(ELP1):c.2737-20C>G
|
|
|
NM_003640.5(ELP1):c.2737-8T>A
|
rs2131975517
|
|
NM_003640.5(ELP1):c.2737-9T>A
|
rs778622576
|
|
NM_003640.5(ELP1):c.276C>T (p.Val92=)
|
rs2132049929
|
|
NM_003640.5(ELP1):c.2772T>A (p.Leu924=)
|
rs754622407
|
|
NM_003640.5(ELP1):c.2787T>C (p.Thr929=)
|
rs1564081993
|
|
NM_003640.5(ELP1):c.2793T>C (p.Tyr931=)
|
|
|
NM_003640.5(ELP1):c.27C>G (p.Thr9=)
|
rs963698427
|
|
NM_003640.5(ELP1):c.2811C>T (p.Asp937=)
|
rs1439801646
|
|
NM_003640.5(ELP1):c.2817C>T (p.Tyr939=)
|
|
|
NM_003640.5(ELP1):c.2818T>C (p.Leu940=)
|
rs1587887904
|
|
NM_003640.5(ELP1):c.2824C>A (p.Arg942=)
|
rs761911009
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
NM_003640.5(ELP1):c.2829T>C (p.Tyr943=)
|
rs2131975190
|
|
NM_003640.5(ELP1):c.282C>G (p.Leu94=)
|
|
|
NM_003640.5(ELP1):c.282C>T (p.Leu94=)
|
|
|
NM_003640.5(ELP1):c.2832A>G (p.Glu944=)
|
rs2131975176
|
|
NM_003640.5(ELP1):c.2844C>A (p.Gly948=)
|
|
|
NM_003640.5(ELP1):c.2844C>T (p.Gly948=)
|
|
|
NM_003640.5(ELP1):c.2850C>T (p.Leu950=)
|
|
|
NM_003640.5(ELP1):c.2860+16A>C
|
|
|
NM_003640.5(ELP1):c.2860+242A>G
|
rs141502202
|
|
NM_003640.5(ELP1):c.2860+7G>A
|
rs1247714394
|
|
NM_003640.5(ELP1):c.2860+7G>C
|
rs1247714394
|
|
NM_003640.5(ELP1):c.2860+7G>T
|
|
|
NM_003640.5(ELP1):c.2860+8T>A
|
|
|
NM_003640.5(ELP1):c.2860+8T>C
|
|
|
NM_003640.5(ELP1):c.2860+8dup
|
rs2131975087
|
|
NM_003640.5(ELP1):c.2861-15A>G
|
|
|
NM_003640.5(ELP1):c.2861-16A>G
|
|
|
NM_003640.5(ELP1):c.2861-8del
|
|
|
NM_003640.5(ELP1):c.28C>T (p.Leu10=)
|
rs2132053050
|
|
NM_003640.5(ELP1):c.2901T>C (p.Asp967=)
|
rs2131973415
|
|
NM_003640.5(ELP1):c.2904A>G (p.Lys968=)
|
rs2131973405
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2910G>A (p.Leu970=)
|
|
|
NM_003640.5(ELP1):c.2913T>C (p.Tyr971=)
|
rs1312848493
|
|
NM_003640.5(ELP1):c.2922T>C (p.Ala974=)
|
rs1828403034
|
|
NM_003640.5(ELP1):c.2925G>A (p.Leu975=)
|
rs1828402699
|
|
NM_003640.5(ELP1):c.2925G>C (p.Leu975=)
|
|
|
NM_003640.5(ELP1):c.2928G>A (p.Lys976=)
|
|
|
NM_003640.5(ELP1):c.2931A>G (p.Leu977=)
|
rs1587886832
|
|
NM_003640.5(ELP1):c.2943C>T (p.Ser981=)
|
rs1013466379
|
|
NM_003640.5(ELP1):c.2949A>G (p.Gln983=)
|
rs2131973252
|
|
NM_003640.5(ELP1):c.2958+14G>T
|
|
|
NM_003640.5(ELP1):c.2958+18A>G
|
|
|
NM_003640.5(ELP1):c.2958+19T>A
|
rs775117814
|
|
NM_003640.5(ELP1):c.2958+7G>A
|
rs2131973199
|
|
NM_003640.5(ELP1):c.2959-10C>T
|
|
|
NM_003640.5(ELP1):c.2959-20T>C
|
|
|
NM_003640.5(ELP1):c.2970T>C (p.Ile990=)
|
|
|
NM_003640.5(ELP1):c.2976T>C (p.Tyr992=)
|
rs1587885173
|
|
NM_003640.5(ELP1):c.297A>T (p.Thr99=)
|
|
|
NM_003640.5(ELP1):c.2985C>T (p.His995=)
|
|
|
NM_003640.5(ELP1):c.2988G>A (p.Leu996=)
|
rs1254678537
|
|
NM_003640.5(ELP1):c.2997G>A (p.Glu999=)
|
rs1288718353
|
|
NM_003640.5(ELP1):c.3015G>T (p.Ala1005=)
|
|
|
NM_003640.5(ELP1):c.3018G>A (p.Gly1006=)
|
rs2131970094
|
|
NM_003640.5(ELP1):c.3021C>T (p.Leu1007=)
|
rs755469058
|
|
NM_003640.5(ELP1):c.303+10A>C
|
rs1587926781
|
|
NM_003640.5(ELP1):c.303+11G>T
|
|
|
NM_003640.5(ELP1):c.303+12A>G
|
|
|
NM_003640.5(ELP1):c.303+15C>G
|
|
|
NM_003640.5(ELP1):c.303+16C>T
|
|
|
NM_003640.5(ELP1):c.303+17A>C
|
|
|
NM_003640.5(ELP1):c.303+7G>A
|
|
|
NM_003640.5(ELP1):c.3030C>G (p.Ala1010=)
|
|
|
NM_003640.5(ELP1):c.304-11C>G
|
|
|
NM_003640.5(ELP1):c.304-11del
|
|
|
NM_003640.5(ELP1):c.304-9C>T
|
rs538870297
|
|
NM_003640.5(ELP1):c.304-9_304-8del
|
rs769049998
|
|
NM_003640.5(ELP1):c.3051A>G (p.Lys1017=)
|
|
|
NM_003640.5(ELP1):c.3054T>A (p.Ala1018=)
|
|
|
NM_003640.5(ELP1):c.3057C>G (p.Leu1019=)
|
|
|
NM_003640.5(ELP1):c.3057C>T (p.Leu1019=)
|
rs781537201
|
|
NM_003640.5(ELP1):c.3067C>T (p.Leu1023=)
|
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3069G>T (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3072A>C (p.Thr1024=)
|
|
|
NM_003640.5(ELP1):c.3075T>C (p.Cys1025=)
|
|
|
NM_003640.5(ELP1):c.3087G>A (p.Lys1029=)
|
rs757486866
|
|
NM_003640.5(ELP1):c.3093C>G (p.Ala1031=)
|
rs1587884867
|
|
NM_003640.5(ELP1):c.3105A>G (p.Ala1035=)
|
|
|
NM_003640.5(ELP1):c.3108C>A (p.Ala1036=)
|
|
|
NM_003640.5(ELP1):c.3120T>C (p.Phe1040=)
|
rs762300112
|
|
NM_003640.5(ELP1):c.3133C>T (p.Leu1045=)
|
|
|
NM_003640.5(ELP1):c.3141C>T (p.Gly1047=)
|
|
|
NM_003640.5(ELP1):c.3160+12C>A
|
|
|
NM_003640.5(ELP1):c.3161-4A>G
|
|
|
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)
|
rs758321016
|
|
NM_003640.5(ELP1):c.3195G>C (p.Ala1065=)
|
|
|
NM_003640.5(ELP1):c.3195G>T (p.Ala1065=)
|
rs758321016
|
|
NM_003640.5(ELP1):c.3222+16C>T
|
|
|
NM_003640.5(ELP1):c.3222+17C>A
|
|
|
NM_003640.5(ELP1):c.3222+17C>T
|
|
|
NM_003640.5(ELP1):c.3222+8C>T
|
rs1159708225
|
|
NM_003640.5(ELP1):c.3223-15C>G
|
|
|
NM_003640.5(ELP1):c.3223-18T>G
|
|
|
NM_003640.5(ELP1):c.3223-5G>A
|
rs2118947473
|
|
NM_003640.5(ELP1):c.3223-5G>T
|
|
|
NM_003640.5(ELP1):c.3228T>C (p.Tyr1076=)
|
|
|
NM_003640.5(ELP1):c.3237T>G (p.Ala1079=)
|
rs2118947424
|
|
NM_003640.5(ELP1):c.3240G>T (p.Val1080=)
|
|
|
NM_003640.5(ELP1):c.3246G>A (p.Leu1082=)
|
|
|
NM_003640.5(ELP1):c.3247C>T (p.Leu1083=)
|
rs1416245963
|
|
NM_003640.5(ELP1):c.3252A>G (p.Leu1084=)
|
rs1474997133
|
|
NM_003640.5(ELP1):c.3255A>G (p.Glu1085=)
|
rs2118947292
|
|
NM_003640.5(ELP1):c.3277T>C (p.Leu1093=)
|
rs2118947177
|
|
NM_003640.5(ELP1):c.3280A>C (p.Arg1094=)
|
|
|
NM_003640.5(ELP1):c.3285+11T>G
|
|
|
NM_003640.5(ELP1):c.3285+15A>G
|
|
|
NM_003640.5(ELP1):c.3285+19C>T
|
|
|
NM_003640.5(ELP1):c.3286-14G>T
|
|
|
NM_003640.5(ELP1):c.3286-16G>A
|
|
|
NM_003640.5(ELP1):c.3286-17del
|
|
|
NM_003640.5(ELP1):c.3286-20T>C
|
|
|
NM_003640.5(ELP1):c.3304C>T (p.Leu1102=)
|
rs2118946145
|
|
NM_003640.5(ELP1):c.3321C>A (p.Thr1107=)
|
|
|
NM_003640.5(ELP1):c.3321C>G (p.Thr1107=)
|
|
|
NM_003640.5(ELP1):c.3330G>A (p.Lys1110=)
|
rs1353763056
|
|
NM_003640.5(ELP1):c.3336C>T (p.Ser1112=)
|
rs776561246
|
|
NM_003640.5(ELP1):c.3346+19A>G
|
|
|
NM_003640.5(ELP1):c.3347-10G>T
|
rs2118941197
|
|
NM_003640.5(ELP1):c.3347-6C>T
|
rs1587873316
|
|
NM_003640.5(ELP1):c.3348C>A (p.Ala1116=)
|
rs2118941184
|
|
NM_003640.5(ELP1):c.3366A>G (p.Ala1122=)
|
|
|
NM_003640.5(ELP1):c.33G>A (p.Glu11=)
|
rs2132053041
|
|
NM_003640.5(ELP1):c.3417G>A (p.Leu1139=)
|
rs202080366
|
|
NM_003640.5(ELP1):c.3432C>A (p.Leu1144=)
|
rs2118940780
|
|
NM_003640.5(ELP1):c.3438G>A (p.Glu1146=)
|
rs931836170
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003640.5(ELP1):c.3457C>T (p.Leu1153=)
|
rs1587873138
|
|
NM_003640.5(ELP1):c.3460+10_3460+24del
|
rs1564072432
|
|
NM_003640.5(ELP1):c.3460+13G>C
|
|
|
NM_003640.5(ELP1):c.3460+13G>T
|
rs149897637
|
|
NM_003640.5(ELP1):c.3460+14T>C
|
|
|
NM_003640.5(ELP1):c.3460+15G>A
|
|
|
NM_003640.5(ELP1):c.3460+20C>A
|
|
|
NM_003640.5(ELP1):c.3460+4_3460+11dup
|
|
|
NM_003640.5(ELP1):c.3460+9C>T
|
|
|
NM_003640.5(ELP1):c.3461-13T>C
|
|
|
NM_003640.5(ELP1):c.3461-14T>C
|
|
|
NM_003640.5(ELP1):c.3461-16G>C
|
|
|
NM_003640.5(ELP1):c.3461-6T>C
|
|
|
NM_003640.5(ELP1):c.3461-7T>G
|
|
|
NM_003640.5(ELP1):c.3461-9C>T
|
rs995554626
|
|
NM_003640.5(ELP1):c.3461-9_3461-7del
|
|
|
NM_003640.5(ELP1):c.3468G>A (p.Glu1156=)
|
rs1236050758
|
|
NM_003640.5(ELP1):c.3474C>A (p.Pro1158=)
|
|
|
NM_003640.5(ELP1):c.3486G>A (p.Glu1162=)
|
rs1179560945
|
|
NM_003640.5(ELP1):c.3489A>G (p.Ser1163=)
|
|
|
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=)
|
rs1827834154
|
|
NM_003640.5(ELP1):c.3498C>T (p.Phe1166=)
|
rs764005359
|
|
NM_003640.5(ELP1):c.3525C>T (p.Gly1175=)
|
rs886288391
|
|
NM_003640.5(ELP1):c.3537T>C (p.Ser1179=)
|
rs773617899
|
|
NM_003640.5(ELP1):c.3540C>A (p.Gly1180=)
|
|
|
NM_003640.5(ELP1):c.3561C>G (p.Ser1187=)
|
rs781284578
|
|
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)
|
rs747272918
|
|
NM_003640.5(ELP1):c.3572+10A>G
|
|
|
NM_003640.5(ELP1):c.3572+11C>G
|
|
|
NM_003640.5(ELP1):c.3572+12A>G
|
|
|
NM_003640.5(ELP1):c.3572+12A>T
|
rs1055164302
|
|
NM_003640.5(ELP1):c.3572+14dup
|
|
|
NM_003640.5(ELP1):c.3572+15G>A
|
|
|
NM_003640.5(ELP1):c.3572+19C>G
|
|
|
NM_003640.5(ELP1):c.3572+20A>G
|
|
|
NM_003640.5(ELP1):c.3573-10T>C
|
|
|
NM_003640.5(ELP1):c.3573-14_3573-13del
|
|
|
NM_003640.5(ELP1):c.3573-16G>A
|
|
|
NM_003640.5(ELP1):c.3573-20A>G
|
|
|
NM_003640.5(ELP1):c.3573-9T>C
|
|
|
NM_003640.5(ELP1):c.357T>C (p.Pro119=)
|
rs761020794
|
|
NM_003640.5(ELP1):c.3592C>A (p.Arg1198=)
|
|
|
NM_003640.5(ELP1):c.3600G>C (p.Ala1200=)
|
|
|
NM_003640.5(ELP1):c.3604C>A (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3606G>A (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3606G>C (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=)
|
rs780520998
|
|
NM_003640.5(ELP1):c.3648G>C (p.Leu1216=)
|
|
|
NM_003640.5(ELP1):c.3651C>T (p.Ala1217=)
|
|
|
NM_003640.5(ELP1):c.3666G>T (p.Leu1222=)
|
rs2118935925
|
|
NM_003640.5(ELP1):c.3669T>C (p.Ser1223=)
|
|
|
NM_003640.5(ELP1):c.3672A>G (p.Glu1224=)
|
rs2118935891
|
|
NM_003640.5(ELP1):c.3675G>A (p.Val1225=)
|
|
|
NM_003640.5(ELP1):c.3678G>A (p.Val1226=)
|
rs1207014363
|
|
NM_003640.5(ELP1):c.367C>T (p.Leu123=)
|
rs2132045470
|
|
NM_003640.5(ELP1):c.3687T>G (p.Thr1229=)
|
rs1301314034
|
|
NM_003640.5(ELP1):c.369G>T (p.Leu123=)
|
|
|
NM_003640.5(ELP1):c.3700+13T>G
|
|
|
NM_003640.5(ELP1):c.3700+18A>G
|
|
|
NM_003640.5(ELP1):c.3701-17A>C
|
|
|
NM_003640.5(ELP1):c.3701-18C>G
|
|
|
NM_003640.5(ELP1):c.3701-19T>G
|
|
|
NM_003640.5(ELP1):c.3701-4C>G
|
rs2118934562
|
|
NM_003640.5(ELP1):c.3701-4C>T
|
rs2118934562
|
|
NM_003640.5(ELP1):c.3701-6C>T
|
rs148535504
|
|
NM_003640.5(ELP1):c.3705A>G (p.Glu1235=)
|
rs574431100
|
|
NM_003640.5(ELP1):c.3708A>C (p.Val1236=)
|
rs368761085
|
|
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=)
|
rs1564070677
|
|
NM_003640.5(ELP1):c.3717T>C (p.Ile1239=)
|
|
|
NM_003640.5(ELP1):c.3726A>G (p.Val1242=)
|
|
|
NM_003640.5(ELP1):c.3732T>C (p.Phe1244=)
|
rs2118934404
|
|
NM_003640.5(ELP1):c.3756A>G (p.Gly1252=)
|
|
|
NM_003640.5(ELP1):c.3762A>G (p.Glu1254=)
|
rs2118934304
|
|
NM_003640.5(ELP1):c.3768G>A (p.Gln1256=)
|
rs2118934270
|
|
NM_003640.5(ELP1):c.3771G>A (p.Lys1257=)
|
rs2118934242
|
|
NM_003640.5(ELP1):c.3774C>T (p.Ala1258=)
|
rs2118934221
|
|
NM_003640.5(ELP1):c.3792G>A (p.Gln1264=)
|
|
|
NM_003640.5(ELP1):c.3807A>G (p.Ser1269=)
|
rs2118934095
|
|
NM_003640.5(ELP1):c.3825T>A (p.Thr1275=)
|
rs1234173300
|
|
NM_003640.5(ELP1):c.3828T>C (p.Leu1276=)
|
|
|
NM_003640.5(ELP1):c.3831T>C (p.Thr1277=)
|
|
|
NM_003640.5(ELP1):c.3846A>T (p.Ser1282=)
|
|
|
NM_003640.5(ELP1):c.3849T>C (p.Ala1283=)
|
rs2118933916
|
|
NM_003640.5(ELP1):c.385+10T>A
|
rs990666217
|
|
NM_003640.5(ELP1):c.385+13C>A
|
|
|
NM_003640.5(ELP1):c.385+14T>C
|
|
|
NM_003640.5(ELP1):c.385+15G>C
|
|
|
NM_003640.5(ELP1):c.385+8del
|
rs2132045394
|
|
NM_003640.5(ELP1):c.3852C>A (p.Thr1284=)
|
|
|
NM_003640.5(ELP1):c.3852C>T (p.Thr1284=)
|
|
|
NM_003640.5(ELP1):c.3855+12C>T
|
|
|
NM_003640.5(ELP1):c.3855+13del
|
|
|
NM_003640.5(ELP1):c.3855+16G>A
|
|
|
NM_003640.5(ELP1):c.3855+17A>T
|
|
|
NM_003640.5(ELP1):c.3855+19G>T
|
rs113767921
|
|
NM_003640.5(ELP1):c.3855+8_3855+9del
|
|
|
NM_003640.5(ELP1):c.3856-13A>G
|
|
|
NM_003640.5(ELP1):c.3856-14dup
|
rs1554737879
|
|
NM_003640.5(ELP1):c.3856-18A>G
|
|
|
NM_003640.5(ELP1):c.3856-20A>G
|
|
|
NM_003640.5(ELP1):c.386-12T>C
|
|
|
NM_003640.5(ELP1):c.386-15_386-12del
|
|
|
NM_003640.5(ELP1):c.386-17G>A
|
|
|
NM_003640.5(ELP1):c.386-5C>G
|
|
|
NM_003640.5(ELP1):c.3867C>T (p.Pro1289=)
|
|
|
NM_003640.5(ELP1):c.3870T>C (p.Asn1290=)
|
|
|
NM_003640.5(ELP1):c.3876T>A (p.Thr1292=)
|
|
|
NM_003640.5(ELP1):c.3894A>G (p.Ala1298=)
|
rs1827644596
|
|
NM_003640.5(ELP1):c.3897T>G (p.Ser1299=)
|
|
|
NM_003640.5(ELP1):c.3900T>C (p.Tyr1300=)
|
rs1425768979
|
|
NM_003640.5(ELP1):c.3931+16C>T
|
|
|
NM_003640.5(ELP1):c.3931+17A>C
|
|
|
NM_003640.5(ELP1):c.3931+17A>G
|
|
|
NM_003640.5(ELP1):c.3931+20del
|
rs758104586
|
|
NM_003640.5(ELP1):c.3932-14T>C
|
|
|
NM_003640.5(ELP1):c.3932-4T>C
|
rs2118907255
|
|
NM_003640.5(ELP1):c.3932-7C>G
|
|
|
NM_003640.5(ELP1):c.3932-7C>T
|
rs1474178691
|
|
NM_003640.5(ELP1):c.3945T>C (p.Phe1315=)
|
|
|
NM_003640.5(ELP1):c.3951A>T (p.Pro1317=)
|
rs1212162839
|
|
NM_003640.5(ELP1):c.3960C>T (p.Ile1320=)
|
rs1827342714
|
|
NM_003640.5(ELP1):c.396C>T (p.Thr132=)
|
|
|
NM_003640.5(ELP1):c.3972C>G (p.Thr1324=)
|
rs1296938074
|
|
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)
|
rs1235352918
|
|
NM_003640.5(ELP1):c.3984G>A (p.Leu1328=)
|
rs2118907092
|
|
NM_003640.5(ELP1):c.3988C>T (p.Leu1330=)
|
rs2118907072
|
|
NM_003640.5(ELP1):c.3996C>T (p.Asp1332=)
|
rs2118907045
|
|
NM_003640.5(ELP1):c.432G>A (p.Leu144=)
|
rs1456280404
|
|
NM_003640.5(ELP1):c.432G>C (p.Leu144=)
|
rs1456280404
|
|
NM_003640.5(ELP1):c.432G>T (p.Leu144=)
|
|
|
NM_003640.5(ELP1):c.438G>A (p.Gln146=)
|
rs2132043832
|
|
NM_003640.5(ELP1):c.466+10G>A
|
rs2132043675
|
|
NM_003640.5(ELP1):c.466+10G>C
|
|
|
NM_003640.5(ELP1):c.466+11C>G
|
|
|
NM_003640.5(ELP1):c.466+13T>C
|
|
|
NM_003640.5(ELP1):c.466+20A>G
|
|
|
NM_003640.5(ELP1):c.466+8T>A
|
|
|
NM_003640.5(ELP1):c.466+8T>C
|
|
|
NM_003640.5(ELP1):c.467-12A>T
|
rs1300230302
|
|
NM_003640.5(ELP1):c.467-4G>A
|
|
|
NM_003640.5(ELP1):c.477C>T (p.Ile159=)
|
rs2132037572
|
|
NM_003640.5(ELP1):c.486A>C (p.Gly162=)
|
rs2132037525
|
|
NM_003640.5(ELP1):c.486A>T (p.Gly162=)
|
|
|
NM_003640.5(ELP1):c.48A>G (p.Gln16=)
|
|
|
NM_003640.5(ELP1):c.4C>A (p.Arg2=)
|
rs926177767
|
|
NM_003640.5(ELP1):c.504A>G (p.Thr168=)
|
rs1485371118
|
|
NM_003640.5(ELP1):c.552+10G>A
|
rs2132037326
|
|
NM_003640.5(ELP1):c.552+14G>A
|
|
|
NM_003640.5(ELP1):c.552+19A>T
|
|
|
NM_003640.5(ELP1):c.552+20T>C
|
|
|
NM_003640.5(ELP1):c.552+9G>A
|
rs2132037328
|
|
NM_003640.5(ELP1):c.553-18G>A
|
|
|
NM_003640.5(ELP1):c.553-221del
|
rs879836091
|
|
NM_003640.5(ELP1):c.553-4_553-3del
|
rs757409808
|
|
NM_003640.5(ELP1):c.553-6T>C
|
|
|
NM_003640.5(ELP1):c.553-8C>T
|
|
|
NM_003640.5(ELP1):c.553-9C>G
|
rs371793321
|
|
NM_003640.5(ELP1):c.553-9C>T
|
rs371793321
|
|
NM_003640.5(ELP1):c.561T>C (p.Ser187=)
|
rs2132031543
|
|
NM_003640.5(ELP1):c.561T>G (p.Ser187=)
|
|
|
NM_003640.5(ELP1):c.564T>A (p.Ala188=)
|
|
|
NM_003640.5(ELP1):c.564T>C (p.Ala188=)
|
|
|
NM_003640.5(ELP1):c.570C>A (p.Pro190=)
|
|
|
NM_003640.5(ELP1):c.57G>A (p.Gly19=)
|
|
|
NM_003640.5(ELP1):c.582T>C (p.His194=)
|
|
|
NM_003640.5(ELP1):c.585A>G (p.Arg195=)
|
rs2132031451
|
|
NM_003640.5(ELP1):c.588A>G (p.Pro196=)
|
rs146875913
|
|
NM_003640.5(ELP1):c.591A>G (p.Gln197=)
|
rs1377727570
|
|
NM_003640.5(ELP1):c.594T>A (p.Val198=)
|
rs916026192
|
|
NM_003640.5(ELP1):c.597C>G (p.Thr199=)
|
|
|
NM_003640.5(ELP1):c.597C>T (p.Thr199=)
|
|
|
NM_003640.5(ELP1):c.621T>C (p.Phe207=)
|
rs2132031316
|
|
NM_003640.5(ELP1):c.63T>C (p.Pro21=)
|
|
|
NM_003640.5(ELP1):c.649+11A>G
|
rs2132031229
|
|
NM_003640.5(ELP1):c.649+13A>T
|
|
|
NM_003640.5(ELP1):c.649+15T>A
|
|
|
NM_003640.5(ELP1):c.649+16G>A
|
|
|
NM_003640.5(ELP1):c.649+16G>T
|
rs142961763
|
|
NM_003640.5(ELP1):c.650-10T>G
|
rs2132030666
|
|
NM_003640.5(ELP1):c.650-11C>T
|
|
|
NM_003640.5(ELP1):c.650-12A>G
|
|
|
NM_003640.5(ELP1):c.650-5CA[3]
|
rs1394478274
|
|
NM_003640.5(ELP1):c.650-6G>A
|
rs571466270
|
|
NM_003640.5(ELP1):c.650-7C>G
|
|
|
NM_003640.5(ELP1):c.650-9C>G
|
|
|
NM_003640.5(ELP1):c.66G>A (p.Gln22=)
|
rs2132052950
|
|
NM_003640.5(ELP1):c.687T>G (p.Ala229=)
|
rs2132030477
|
|
NM_003640.5(ELP1):c.699C>G (p.Thr233=)
|
|
|
NM_003640.5(ELP1):c.69C>T (p.Cys23=)
|
rs1587928500
|
|
NM_003640.5(ELP1):c.705G>A (p.Glu235=)
|
|
|
NM_003640.5(ELP1):c.714A>G (p.Ala238=)
|
rs2132030418
|
|
NM_003640.5(ELP1):c.730C>T (p.Leu244=)
|
rs200836328
|
|
NM_003640.5(ELP1):c.740+11G>T
|
|
|
NM_003640.5(ELP1):c.740+12A>T
|
|
|
NM_003640.5(ELP1):c.741-19A>G
|
|
|
NM_003640.5(ELP1):c.741-5_741-4dup
|
rs2132028216
|
|
NM_003640.5(ELP1):c.744C>T (p.Pro248=)
|
rs777540385
|
|
NM_003640.5(ELP1):c.750C>A (p.Gly250=)
|
rs2132028153
|
|
NM_003640.5(ELP1):c.75T>C (p.Ser25=)
|
rs2132052925
|
|
NM_003640.5(ELP1):c.768A>C (p.Thr256=)
|
|
|
NM_003640.5(ELP1):c.768A>T (p.Thr256=)
|
rs985459923
|
|
NM_003640.5(ELP1):c.777A>G (p.Lys259=)
|
|
|
NM_003640.5(ELP1):c.786G>A (p.Gln262=)
|
|
|
NM_003640.5(ELP1):c.789G>A (p.Gln263=)
|
|
|
NM_003640.5(ELP1):c.78C>T (p.Leu26=)
|
rs1164162179
|
|
NM_003640.5(ELP1):c.792T>C (p.Asp264=)
|
rs2132027995
|
|
NM_003640.5(ELP1):c.79C>A (p.Arg27=)
|
rs868073099
|
|
NM_003640.5(ELP1):c.816A>C (p.Gly272=)
|
rs201336920
|
|
NM_003640.5(ELP1):c.819C>G (p.Leu273=)
|
|
|
NM_003640.5(ELP1):c.822T>C (p.Leu274=)
|
rs1207966755
|
|
NM_003640.5(ELP1):c.822T>G (p.Leu274=)
|
rs1207966755
|
|
NM_003640.5(ELP1):c.825T>C (p.His275=)
|
rs2132027893
|
|
NM_003640.5(ELP1):c.837A>G (p.Thr279=)
|
|
|
NM_003640.5(ELP1):c.840T>C (p.Leu280=)
|
|
|
NM_003640.5(ELP1):c.864+17G>A
|
|
|
NM_003640.5(ELP1):c.865-11T>A
|
|
|
NM_003640.5(ELP1):c.865-15T>A
|
|
|
NM_003640.5(ELP1):c.865-17T>C
|
|
|
NM_003640.5(ELP1):c.865-19G>C
|
|
|
NM_003640.5(ELP1):c.865-7dup
|
|
|
NM_003640.5(ELP1):c.865-8C>A
|
rs2132025319
|
|
NM_003640.5(ELP1):c.865-8C>T
|
|
|
NM_003640.5(ELP1):c.867A>C (p.Val289=)
|
|
|
NM_003640.5(ELP1):c.894C>A (p.Ser298=)
|
rs1428327725
|
|
NM_003640.5(ELP1):c.900G>T (p.Val300=)
|
|
|
NM_003640.5(ELP1):c.906A>G (p.Ala302=)
|
|
|
NM_003640.5(ELP1):c.915G>A (p.Leu305=)
|
|
|
NM_003640.5(ELP1):c.921C>T (p.Asp307=)
|
rs2132025155
|
|
NM_003640.5(ELP1):c.942C>T (p.Ser314=)
|
rs761625150
|
|
NM_003640.5(ELP1):c.958+10C>T
|
rs2132025006
|
|
NM_003640.5(ELP1):c.958+12G>A
|
|
|
NM_003640.5(ELP1):c.958+15G>A
|
|
|
NM_003640.5(ELP1):c.958+16T>C
|
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
NM_003640.5(ELP1):c.959-11T>A
|
|
|
NM_003640.5(ELP1):c.959-16T>A
|
|
|
NM_003640.5(ELP1):c.959-20C>T
|
|
|
NM_003640.5(ELP1):c.959-225dup
|
rs199537662
|
|
NM_003640.5(ELP1):c.959-260del
|
rs554750757
|
|
NM_003640.5(ELP1):c.959-5T>C
|
rs2132017118
|
|
NM_003640.5(ELP1):c.959-9C>T
|
|
|
NM_003640.5(ELP1):c.963G>A (p.Gln321=)
|
rs2132017094
|
|
NM_003640.5(ELP1):c.96G>C (p.Thr32=)
|
rs748202041
|
|
NM_003640.5(ELP1):c.972T>C (p.Thr324=)
|
rs2132017066
|
|
NM_003640.5(ELP1):c.984T>C (p.Tyr328=)
|
|
|
NM_003640.5(ELP1):c.993T>C (p.Tyr331=)
|
|
|
NM_003640.5(ELP1):c.996C>T (p.Leu332=)
|
rs2132017008
|
|