ClinVar Miner

List of variants in gene ELP1

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Gene type:
ClinVar version:
Total variants: 2048
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1361-140A>G rs838823 0.92790
NM_003640.5(ELP1):c.2860+291T>A rs947196 0.90227
NM_003640.5(ELP1):c.3572+199C>T rs1416899 0.90058
NM_003640.5(ELP1):c.3856-82G>C rs1981267 0.89958
NM_003640.5(ELP1):c.3856-81G>T rs1981268 0.89954
NM_003640.5(ELP1):c.3700+236G>A rs10435835 0.79781
NM_003640.5(ELP1):c.1361-23A>G rs838824 0.70718
NM_003640.5(ELP1):c.2205-121C>T rs4978760 0.64996
NM_003640.5(ELP1):c.3932-185G>A rs3763644 0.62610
NM_003640.5(ELP1):c.1360+153C>G rs838820 0.62240
NM_003640.5(ELP1):c.740+226A>G rs1417713 0.57004
NM_003640.5(ELP1):c.958+56A>T rs1772046 0.56907
NM_003640.5(ELP1):c.1855-160A>G rs2275633 0.50329
NM_003640.5(ELP1):c.1854+283G>T rs10759327 0.48270
NM_003640.5(ELP1):c.*1351C>A rs4978371 0.41826
NM_003640.5(ELP1):c.3931+189G>A rs2027434 0.41741
NM_003640.5(ELP1):c.3856-54C>A rs2027433 0.41736
NM_003640.5(ELP1):c.2958+202T>C rs10816762 0.41008
NM_003640.5(ELP1):c.3701-202G>A rs10435834 0.40661
NM_003640.5(ELP1):c.3160+23T>C rs3737309 0.40638
NM_003640.5(ELP1):c.-301C>G rs2275641 0.35638
NM_003640.5(ELP1):c.3572+99G>A rs2275496 0.34623
NM_003640.5(ELP1):c.2737-179C>T rs11793522 0.34372
NM_003640.5(ELP1):c.2015-72C>T rs1341217 0.27211
NM_003640.5(ELP1):c.2736+308A>G rs4978758 0.27151
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2736+304T>C rs4978759 0.27049
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3701-166T>C rs10435833 0.22096
NM_003640.5(ELP1):c.3701-124A>C rs10435855 0.21962
NM_003640.5(ELP1):c.3346+110C>T rs7873793 0.21922
NM_003640.5(ELP1):c.3856-221C>A rs4978753 0.21898
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3701-95C>G rs3818875 0.21860
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.1855-217A>G rs3818932 0.21752
NM_003640.5(ELP1):c.1460+72A>G rs2304779 0.21723
NM_003640.5(ELP1):c.304-220C>T rs113624314 0.21615
NM_003640.5(ELP1):c.-56+101G>C rs2275637 0.21571
NM_003640.5(ELP1):c.2131-175C>T rs1341215 0.20229
NM_003640.5(ELP1):c.1643+145G>A rs4369056 0.19539
NM_003640.5(ELP1):c.3285+9C>T rs2275495 0.18606
NM_003640.5(ELP1):c.3222+113A>G rs3780509 0.18545
NM_003640.5(ELP1):c.3222+115A>G rs3780508 0.18538
NM_003640.5(ELP1):c.2015-71G>A rs1341216 0.17210
NM_003640.5(ELP1):c.553-235A>G rs55905125 0.14860
NM_003640.5(ELP1):c.3347-90A>G rs7874280 0.14534
NM_003640.5(ELP1):c.3285+162T>C rs7046977 0.14522
NM_003640.5(ELP1):c.552+133A>G rs3750457 0.13766
NM_003640.5(ELP1):c.552+42_552+43dup rs3833703 0.13456
NM_003640.5(ELP1):c.1460+162T>G rs838825 0.13426
NM_003640.5(ELP1):c.1750+124C>T rs17792422 0.12773
NM_003640.5(ELP1):c.466+36G>A rs2275635 0.12702
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.1461-121T>C rs3750461 0.11772
NM_003640.5(ELP1):c.1190-249C>T rs2297580 0.11601
NM_003640.5(ELP1):c.959-118C>T rs10979608 0.11499
NM_003640.5(ELP1):c.1855-139G>A rs2275632 0.11396
NM_003640.5(ELP1):c.*1071G>A rs41305457 0.11134
NM_003640.5(ELP1):c.2131-113T>G rs55969525 0.10200
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605 0.09707
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_003640.5(ELP1):c.2205-197C>T rs76493188 0.08631
NM_003640.5(ELP1):c.2205-98C>G rs12237534 0.08436
NM_003640.5(ELP1):c.2204+74A>G rs56170160 0.08419
NM_003640.5(ELP1):c.1461-213T>C rs3750460 0.08356
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.1190-120A>G rs11791215 0.07878
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
NM_003640.5(ELP1):c.2205-155A>G rs12238625 0.07656
NM_003640.5(ELP1):c.1854+309G>A rs55912317 0.07560
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.*1260C>T rs13299651 0.07241
NM_003640.5(ELP1):c.1750+115C>G rs16913675 0.07241
NM_003640.5(ELP1):c.*1259C>G rs13299652 0.07240
NM_003640.5(ELP1):c.2588-39A>C rs10816764 0.07166
NM_003640.5(ELP1):c.1750+233C>G rs147854908 0.06915
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.1360+130A>G rs62575182 0.05237
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_003640.5(ELP1):c.1360+293C>T rs4978761 0.05103
NM_003640.5(ELP1):c.865-72A>G rs3750458 0.05075
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.2588-120A>G rs2275627 0.05068
NM_003640.5(ELP1):c.3347-181A>G rs56255674 0.05022
NM_003640.5(ELP1):c.2015-231G>C rs59112775 0.04991
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.3347-257A>G rs12342757 0.04703
NM_003640.5(ELP1):c.2015-328G>A rs117660102 0.04270
NM_003640.5(ELP1):c.2283+26C>G rs16913665 0.03332
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_003640.5(ELP1):c.*861T>G rs74671462 0.03303
NM_003640.5(ELP1):c.3573-51G>A rs115472775 0.03298
NM_003640.5(ELP1):c.385+170A>G rs76264949 0.02963
NM_003640.5(ELP1):c.3223-72G>A rs16913636 0.02772
NM_003640.5(ELP1):c.2130+133T>C rs2275630 0.02307
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.2130+141G>A rs55780406 0.02141
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_003640.5(ELP1):c.304-301C>T rs151102621 0.01849
NM_003640.5(ELP1):c.2364-33G>A rs77747745 0.01764
NM_003640.5(ELP1):c.*392A>G rs10979577 0.01747
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
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.2587+14C>T rs141670242 0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
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.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
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.*1214C>T rs143906434 0.00555
NM_003640.5(ELP1):c.1644-155A>G rs565146732 0.00530
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
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.*902C>T rs139728295 0.00347
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.*1247T>C rs76994656 0.00100
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.-22G>T rs150608921 0.00051
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.1460+16T>A rs146162690 0.00044
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.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.-242T>G rs765585828 0.00032
NM_003640.5(ELP1):c.2284-18T>C rs768635920 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.3855+19G>A rs113767921 0.00026
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.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.2087G>A (p.Arg696Gln) rs137853022 0.00015
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.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787 0.00014
NM_003640.5(ELP1):c.-64G>A rs575166769 0.00013
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.2205-7C>T rs148221146 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.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.3593G>A (p.Arg1198Gln) rs200322331 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.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.1644-13T>C rs557540663 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.304-7G>A rs374063549 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.150+16A>G rs148164198 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 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.3219C>A (p.Ala1073=) rs371960059 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.3600G>A (p.Ala1200=) rs769196025 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.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.2378C>T (p.Thr793Met) rs201596987 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.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 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.3188T>C (p.Ile1063Thr) rs754831171 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.*1291A>G rs971258024 0.00004
NM_003640.5(ELP1):c.1444T>C (p.Leu482=) rs753849574 0.00004
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 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.1860T>C (p.Cys620=) rs769936175 0.00004
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122 0.00004
NM_003640.5(ELP1):c.1954T>C (p.Leu652=) rs757287712 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.2205-9T>G rs762448047 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.246T>C (p.Ser82=) rs1356191121 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.3045C>T (p.His1015=) rs772697433 0.00004
NM_003640.5(ELP1):c.3060A>G (p.Ser1020=) rs1342216283 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.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.3592C>T (p.Arg1198Ter) rs376078668 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.410C>A (p.Thr137Lys) rs201460139 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.655C>T (p.Arg219Trp) rs374238430 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_003640.4(ELP1):c.-403C>T rs886063352 0.00003
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 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.1335T>C (p.Ser445=) rs777207577 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.1834T>C (p.Leu612=) rs768084021 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 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.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.2748A>G (p.Glu916=) rs200551647 0.00003
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser) rs1378971881 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 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.3309T>C (p.Asp1103=) rs1140075 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.3460+12C>T rs576315331 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.423G>A (p.Glu141=) rs567960748 0.00003
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg) rs557686367 0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 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.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 0.00003
NM_003640.5(ELP1):c.858G>A (p.Glu286=) rs147517999 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.1437T>G (p.Thr479=) rs1341178262 0.00002
NM_003640.5(ELP1):c.1466A>C (p.Gln489Pro) rs140229715 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.150+3A>G rs760208051 0.00002
NM_003640.5(ELP1):c.1511G>A (p.Gly504Asp) rs778215292 0.00002
NM_003640.5(ELP1):c.1593G>A (p.Leu531=) rs773965613 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.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.2086C>T (p.Arg696Trp) rs771647322 0.00002
NM_003640.5(ELP1):c.20T>G (p.Phe7Cys) rs1379847365 0.00002
NM_003640.5(ELP1):c.2172G>C (p.Leu724=) rs202166505 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.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.2585A>G (p.Gln862Arg) rs563636288 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 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.2880A>G (p.Glu960=) rs779444024 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.3015G>A (p.Ala1005=) rs781623768 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3036C>T (p.Cys1012=) rs528740327 0.00002
NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys) rs868601119 0.00002
NM_003640.5(ELP1):c.3072A>G (p.Thr1024=) rs758372070 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003640.5(ELP1):c.3160+27A>G rs1341213 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.3270A>G (p.Glu1090=) rs1487288025 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 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.3816A>G (p.Glu1272=) rs145380688 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.553-8C>G rs530487391 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.102C>T (p.Leu34=) rs1381472784 0.00001
NM_003640.5(ELP1):c.1031G>A (p.Ser344Asn) rs374294411 0.00001
NM_003640.5(ELP1):c.1047G>C (p.Leu349=) rs781560088 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.1065C>T (p.Thr355=) rs1230924720 0.00001
NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp) rs750718439 0.00001
NM_003640.5(ELP1):c.1080T>C (p.His360=) rs1214789434 0.00001
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326 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.1169A>G (p.Asn390Ser) rs1273486554 0.00001
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser) rs771123534 0.00001
NM_003640.5(ELP1):c.1176T>C (p.Ala392=) rs753979416 0.00001
NM_003640.5(ELP1):c.1180A>G (p.Ile394Val) rs1372225878 0.00001
NM_003640.5(ELP1):c.1190-4G>A rs774965847 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.1224G>A (p.Val408=) rs151157900 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.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.1294C>T (p.His432Tyr) rs773228197 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.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.1361-1G>T rs372225464 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.1461-1G>A rs539544212 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.1497C>T (p.Asn499=) rs1410534323 0.00001
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491 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.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.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.1786T>C (p.Ser596Pro) rs749510215 0.00001
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347 0.00001
NM_003640.5(ELP1):c.180A>G (p.Glu60=) rs1326806855 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.1833A>G (p.Glu611=) rs1587898434 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.186T>C (p.Phe62=) rs752573144 0.00001
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn) rs202085601 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.1961C>A (p.Thr654Lys) rs764320309 0.00001
NM_003640.5(ELP1):c.1974T>C (p.His658=) rs1308350085 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.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.2032A>G (p.Ser678Gly) rs756120509 0.00001
NM_003640.5(ELP1):c.2043T>C (p.His681=) rs147944437 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2131-8T>G rs1220473264 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.2169C>T (p.Ala723=) rs1221473738 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 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.2243T>G (p.Leu748Arg) rs1034776233 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.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2346G>T (p.Leu782Phe) rs1182966138 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.2439G>T (p.Gly813=) rs1828590245 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.2461G>A (p.Asp821Asn) rs770590151 0.00001
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu) rs1307998361 0.00001
NM_003640.5(ELP1):c.2501+8T>C rs189797561 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.2502-18C>T rs776675315 0.00001
NM_003640.5(ELP1):c.2502-7A>G rs372939186 0.00001
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val) rs779097269 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.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.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.274G>A (p.Val92Ile) rs757852635 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.2806A>G (p.Ile936Val) rs1239561807 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.2860+2T>C rs754348901 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.2910G>T (p.Leu970Phe) rs146198104 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.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003640.5(ELP1):c.2958+1G>A rs1239081703 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.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.304-18C>T rs147293637 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.3063C>T (p.Ala1021=) rs1267849190 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.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.3152C>T (p.Thr1051Ile) rs747546817 0.00001
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) rs1315617472 0.00001
NM_003640.5(ELP1):c.3161-2A>G rs749548287 0.00001
NM_003640.5(ELP1):c.3169G>A (p.Val1057Ile) rs1370476500 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.3208G>A (p.Glu1070Lys) rs778318147 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.322G>A (p.Val108Ile) rs192047457 0.00001
NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val) rs752344797 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.3325G>A (p.Val1109Ile) rs761896714 0.00001
NM_003640.5(ELP1):c.334A>G (p.Ile112Val) rs1451932418 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.3398G>A (p.Arg1133His) rs143580972 0.00001
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys) rs377679012 0.00001
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter) rs768015419 0.00001
NM_003640.5(ELP1):c.3425G>A (p.Arg1142Gln) rs746668947 0.00001
NM_003640.5(ELP1):c.3461-9C>G rs995554626 0.00001
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg) rs1032686725 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.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.3572+1G>A rs571348995 0.00001
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 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.3701-10T>G rs1827773831 0.00001
NM_003640.5(ELP1):c.3714T>C (p.His1238=) rs749975442 0.00001
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) rs756928248 0.00001
NM_003640.5(ELP1):c.3783T>C (p.Asp1261=) rs1473679154 0.00001
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala) rs200634033 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.3829A>T (p.Thr1277Ser) rs753141812 0.00001
NM_003640.5(ELP1):c.385+7T>C rs747004579 0.00001
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu) rs199813856 0.00001
NM_003640.5(ELP1):c.3855+18C>T rs557015443 0.00001
NM_003640.5(ELP1):c.3855G>A (p.Pro1285=) rs901285079 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.3883A>G (p.Ser1295Gly) rs989681376 0.00001
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val) rs762773957 0.00001
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=) rs772800681 0.00001
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) rs200524123 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.3952C>A (p.Pro1318Thr) rs757781758 0.00001
NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr) rs367795801 0.00001
NM_003640.5(ELP1):c.3987C>T (p.Ser1329=) rs144816863 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.466+7A>G rs1242699541 0.00001
NM_003640.5(ELP1):c.49G>A (p.Gly17Ser) rs1829991757 0.00001
NM_003640.5(ELP1):c.552+12T>C rs762061745 0.00001
NM_003640.5(ELP1):c.552+1G>T rs765572951 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.624T>C (p.Ala208=) rs772320418 0.00001
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln) rs749382362 0.00001
NM_003640.5(ELP1):c.663C>T (p.Val221=) rs1453507748 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.707_711dup (p.Ala238fs) rs1390547777 0.00001
NM_003640.5(ELP1):c.717A>C (p.Gly239=) rs1333495798 0.00001
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) rs1317221906 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.744C>G (p.Pro248=) rs777540385 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.813T>C (p.Asn271=) rs1829489780 0.00001
NM_003640.5(ELP1):c.843C>T (p.Pro281=) rs1377438174 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 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.969G>A (p.Trp323Ter) rs1829266738 0.00001
NM_003640.5(ELP1):c.96G>A (p.Thr32=) rs748202041 0.00001
GRCh37/hg19 9q31.3(chr9:111654395-111670100)x1
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
NC_000009.11:g.(?_111631385)_(111663971_?)del
NC_000009.11:g.(?_111642322)_(111644477_?)del
NC_000009.11:g.(?_111658756)_(111670704_?)del
NC_000009.11:g.(?_111662092)_(111663971_?)dup
NC_000009.11:g.(?_111665109)_(111665959_?)del
NC_000009.11:g.(?_111673280)_(111679960_?)del
NC_000009.11:g.(?_111679817)_(111679960_?)del
NC_000009.11:g.(?_111681081)_(111681639_?)del
NC_000009.11:g.(?_111692039)_(111693436_?)del
NC_000009.11:g.(?_111693257)_(111693446_?)dup
NC_000009.12:g.(?_108869105)_(108903679_?)del
NC_000009.12:g.(?_108869115)_(108901681_?)del
NC_000009.12:g.(?_108877985)_(108931156_?)del
NC_000009.12:g.(?_108930987)_(108931156_?)del
NC_000009.12:g.108902941CT[1]
NC_000009.12:g.108929922del
NC_000009.12:g.108934341C>G rs200182947
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-534delC rs544672591
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>G rs117100816
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.-17G>A rs199738099
NM_003640.5(ELP1):c.-38A>G rs768298252
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1002A>G (p.Gln334=)
NM_003640.5(ELP1):c.1008A>G (p.Leu336=)
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.1017C>T (p.Ser339=)
NM_003640.5(ELP1):c.1020C>T (p.Thr340=)
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg) rs772819713
NM_003640.5(ELP1):c.1035G>A (p.Lys345=)
NM_003640.5(ELP1):c.1037T>C (p.Ile346Thr)
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe) rs1587908989
NM_003640.5(ELP1):c.1047G>T (p.Leu349=)
NM_003640.5(ELP1):c.104T>C (p.Ile35Thr)
NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter) rs2132016798
NM_003640.5(ELP1):c.1052_1055dup (p.Asp352fs)
NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter) rs2132016792
NM_003640.5(ELP1):c.1057C>G (p.Pro353Ala)
NM_003640.5(ELP1):c.1066C>T (p.Pro356Ser) rs1339454272
NM_003640.5(ELP1):c.1066_1067dup (p.Tyr357fs)
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.1092G>C (p.Gln364His) rs1829258370
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1095C>A (p.Gly365=)
NM_003640.5(ELP1):c.1099C>T (p.His367Tyr)
NM_003640.5(ELP1):c.1107C>G (p.Leu369=)
NM_003640.5(ELP1):c.1108G>A (p.Ala370Thr)
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
NM_003640.5(ELP1):c.1113T>C (p.Tyr371=)
NM_003640.5(ELP1):c.1114G>C (p.Asp372His)
NM_003640.5(ELP1):c.1118G>T (p.Trp373Leu)
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.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.1137G>A (p.Arg379=)
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.1140C>T (p.Ser380=) rs771575205
NM_003640.5(ELP1):c.1147G>T (p.Asp383Tyr) rs1254770684
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1155A>G (p.Ser385=)
NM_003640.5(ELP1):c.1161C>T (p.Asp387=)
NM_003640.5(ELP1):c.1164G>C (p.Leu388Phe)
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1170T>C (p.Asn390=)
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.117T>C (p.His39=) rs2132052817
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+16G>A
NM_003640.5(ELP1):c.1189+16G>C
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1189+20G>A rs999307275
NM_003640.5(ELP1):c.1189+6C>G
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.1190-1G>C rs2132014128
NM_003640.5(ELP1):c.1190-2A>G rs2132014132
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.1192_1193del (p.Arg398fs)
NM_003640.5(ELP1):c.1193G>A (p.Arg398Lys)
NM_003640.5(ELP1):c.1197G>A (p.Val399=)
NM_003640.5(ELP1):c.119G>T (p.Gly40Val) rs1829988830
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
NM_003640.5(ELP1):c.1206A>G (p.Thr402=) rs2132014080
NM_003640.5(ELP1):c.1211T>C (p.Phe404Ser)
NM_003640.5(ELP1):c.1213del (p.Arg405fs)
NM_003640.5(ELP1):c.1215G>T (p.Arg405=)
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
NM_003640.5(ELP1):c.1224G>C (p.Val408=)
NM_003640.5(ELP1):c.1236C>T (p.Pro412=)
NM_003640.5(ELP1):c.1237A>C (p.Met413Leu)
NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)
NM_003640.5(ELP1):c.1242C>T (p.Cys414=) rs1233980811
NM_003640.5(ELP1):c.1247dup (p.Tyr416Ter)
NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)
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.1269dup (p.Val424fs) rs2132013817
NM_003640.5(ELP1):c.1271T>A (p.Val424Glu)
NM_003640.5(ELP1):c.1272G>T (p.Val424=)
NM_003640.5(ELP1):c.1278A>G (p.Gln426=) rs372511606
NM_003640.5(ELP1):c.1281C>T (p.Val427=) rs2132013769
NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter) rs2132013740
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.1309A>G (p.Asn437Asp)
NM_003640.5(ELP1):c.131T>C (p.Val44Ala) rs1829988347
NM_003640.5(ELP1):c.1326A>G (p.Leu442=)
NM_003640.5(ELP1):c.1331C>T (p.Ala444Val) rs2132013549
NM_003640.5(ELP1):c.1332C>T (p.Ala444=)
NM_003640.5(ELP1):c.1333del (p.Ser445fs) rs2132013543
NM_003640.5(ELP1):c.1336A>G (p.Asn446Asp) rs1829197624
NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter) rs1271784136
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr) rs147575152
NM_003640.5(ELP1):c.1344T>C (p.Ile448=)
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1353T>C (p.Tyr451=)
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr) rs1829195961
NM_003640.5(ELP1):c.1358G>A (p.Cys453Tyr)
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+166dup rs11431875
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
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.1361-3C>A rs1829095177
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.138dup (p.Val47fs) rs1564110292
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.1406del (p.Gly469fs)
NM_003640.5(ELP1):c.1416A>G (p.Gly472=) rs1587904647
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
NM_003640.5(ELP1):c.1433del (p.Arg478fs) rs2132007757
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.144A>G (p.Ser48=)
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
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+1G>A rs1564093439
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
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.1461-13A>G
NM_003640.5(ELP1):c.1461-1G>T rs539544212
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.1465C>T (p.Gln489Ter)
NM_003640.5(ELP1):c.1467G>A (p.Gln489=)
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.1477A>G (p.Asn493Asp)
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp) rs1829023404
NM_003640.5(ELP1):c.1483_1505del (p.Asp495fs)
NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter) rs749704610
NM_003640.5(ELP1):c.1499del (p.Pro500fs)
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
NM_003640.5(ELP1):c.150+10T>C
NM_003640.5(ELP1):c.150+13T>C
NM_003640.5(ELP1):c.150+145A>G rs838818
NM_003640.5(ELP1):c.150+14G>A
NM_003640.5(ELP1):c.150+1G>A rs1554703831
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.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.151-2A>C
NM_003640.5(ELP1):c.151-2del rs1439727159
NM_003640.5(ELP1):c.151-9T>C rs747310144
NM_003640.5(ELP1):c.151-9T>G rs747310144
NM_003640.5(ELP1):c.1515T>G (p.Leu505=)
NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)
NM_003640.5(ELP1):c.1527T>C (p.Ile509=)
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.1539C>G (p.Val513=)
NM_003640.5(ELP1):c.1539C>T (p.Val513=) rs765163631
NM_003640.5(ELP1):c.1540T>C (p.Phe514Leu) rs2132003509
NM_003640.5(ELP1):c.1548T>C (p.Ala516=)
NM_003640.5(ELP1):c.1550T>C (p.Val517Ala)
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.1570C>T (p.Pro524Ser)
NM_003640.5(ELP1):c.1576T>A (p.Ser526Thr) rs2132003336
NM_003640.5(ELP1):c.1581C>G (p.Val527=)
NM_003640.5(ELP1):c.1586A>G (p.His529Arg) rs1829018937
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
NM_003640.5(ELP1):c.1587C>T (p.His529=)
NM_003640.5(ELP1):c.15A>G (p.Lys5=)
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.1615_1618del (p.Asp539fs) rs2132003172
NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)
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.1637A>G (p.Asn546Ser)
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly) rs1829015512
NM_003640.5(ELP1):c.1643+10T>A
NM_003640.5(ELP1):c.1643+14T>C
NM_003640.5(ELP1):c.1643+14dup
NM_003640.5(ELP1):c.1643+16C>T
NM_003640.5(ELP1):c.1643+18del rs2132003038
NM_003640.5(ELP1):c.1643+1G>A
NM_003640.5(ELP1):c.1643+233T>A rs73654150
NM_003640.5(ELP1):c.1643+2T>C
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.1644-15_1644-13del rs753571092
NM_003640.5(ELP1):c.1644-16T>C
NM_003640.5(ELP1):c.1644-16del
NM_003640.5(ELP1):c.1644-183GT[10] rs3835305
NM_003640.5(ELP1):c.1644-183GT[11] rs3835305
NM_003640.5(ELP1):c.1644-183GT[12] rs3835305
NM_003640.5(ELP1):c.1644-183GT[13] rs3835305
NM_003640.5(ELP1):c.1644-183GT[15] rs3835305
NM_003640.5(ELP1):c.1644-1G>T rs1451406050
NM_003640.5(ELP1):c.1644-20C>T
NM_003640.5(ELP1):c.1644-20_1644-17del
NM_003640.5(ELP1):c.1644-2A>C rs1413906605
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.1645T>C (p.Ser549Pro)
NM_003640.5(ELP1):c.1647A>G (p.Ser549=)
NM_003640.5(ELP1):c.1649C>T (p.Ser550Phe)
NM_003640.5(ELP1):c.1650T>C (p.Ser550=)
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly) rs139891858
NM_003640.5(ELP1):c.1655C>T (p.Ala552Val)
NM_003640.5(ELP1):c.1656G>T (p.Ala552=) rs200535861
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu) rs376515761
NM_003640.5(ELP1):c.165T>C (p.Val55=) rs2132050199
NM_003640.5(ELP1):c.165T>G (p.Val55=)
NM_003640.5(ELP1):c.1666G>C (p.Val556Leu)
NM_003640.5(ELP1):c.1675A>T (p.Ser559Cys)
NM_003640.5(ELP1):c.1680A>G (p.Leu560=)
NM_003640.5(ELP1):c.1683T>C (p.Cys561=) rs2131996867
NM_003640.5(ELP1):c.1686C>G (p.Cys562Trp)
NM_003640.5(ELP1):c.1693A>G (p.Lys565Glu)
NM_003640.5(ELP1):c.1696_1697del (p.Thr566fs) rs2131996846
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.1707A>G (p.Val569=)
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1718T>A (p.Leu573Gln)
NM_003640.5(ELP1):c.1722T>C (p.Ala574=) rs2131996768
NM_003640.5(ELP1):c.1727G>A (p.Gly576Asp)
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1731_1735del (p.Gln577fs)
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.1737T>C (p.Phe579=) rs2131996743
NM_003640.5(ELP1):c.1740G>A (p.Lys580=)
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+16T>G
NM_003640.5(ELP1):c.1750+19G>A
NM_003640.5(ELP1):c.1750+1G>A rs770668926
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1750+9C>A
NM_003640.5(ELP1):c.1750+9C>G rs1828896199
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys) rs1828896602
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.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter) rs1828866977
NM_003640.5(ELP1):c.1770T>G (p.Ile590Met)
NM_003640.5(ELP1):c.1773A>G (p.Lys591=)
NM_003640.5(ELP1):c.1774C>T (p.Pro592Ser)
NM_003640.5(ELP1):c.1776A>G (p.Pro592=)
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
NM_003640.5(ELP1):c.1787C>G (p.Ser596Cys)
NM_003640.5(ELP1):c.1788T>C (p.Ser596=)
NM_003640.5(ELP1):c.178G>A (p.Glu60Lys)
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
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.1829C>T (p.Thr610Ile) rs1034282177
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
NM_003640.5(ELP1):c.1836G>A (p.Leu612=)
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.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+1G>A rs1554696934
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.1867G>T (p.Gly623Cys)
NM_003640.5(ELP1):c.1870C>T (p.Leu624=)
NM_003640.5(ELP1):c.1872G>A (p.Leu624=)
NM_003640.5(ELP1):c.1877A>G (p.Asp626Gly) rs2131992524
NM_003640.5(ELP1):c.1881G>A (p.Arg627=)
NM_003640.5(ELP1):c.1881G>T (p.Arg627Ser)
NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter) rs2131992501
NM_003640.5(ELP1):c.1885C>T (p.Arg629Cys)
NM_003640.5(ELP1):c.1886del (p.Arg629fs)
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu) rs1828814518
NM_003640.5(ELP1):c.1893C>T (p.Phe631=) rs1038922476
NM_003640.5(ELP1):c.1897A>G (p.Asn633Asp)
NM_003640.5(ELP1):c.189C>G (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe) rs1829992932
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) rs1554696650
NM_003640.5(ELP1):c.1908+19G>T
NM_003640.5(ELP1):c.1908+1G>A
NM_003640.5(ELP1):c.1908+2T>A rs1554696648
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.1909-2A>C rs2131992124
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.1909G>A (p.Val637Ile)
NM_003640.5(ELP1):c.190C>G (p.Pro64Ala)
NM_003640.5(ELP1):c.1921A>G (p.Ile641Val)
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) rs377020122
NM_003640.5(ELP1):c.1929A>G (p.Ser643=)
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
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.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.1953A>G (p.Leu651=)
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.195G>T (p.Glu65Asp)
NM_003640.5(ELP1):c.1961del (p.Thr654fs)
NM_003640.5(ELP1):c.1962A>G (p.Thr654=) rs2131991951
NM_003640.5(ELP1):c.1970C>T (p.Ser657Phe)
NM_003640.5(ELP1):c.1971C>T (p.Ser657=) rs1000043423
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.1989T>C (p.Phe663=)
NM_003640.5(ELP1):c.1990del (p.Cys664fs)
NM_003640.5(ELP1):c.1995G>A (p.Leu665=)
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2002G>A (p.Ala668Thr)
NM_003640.5(ELP1):c.2004T>C (p.Ala668=)
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro) rs1587896793
NM_003640.5(ELP1):c.2005T>G (p.Ser669Ala)
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter) rs1587896788
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+1G>A rs1554696574
NM_003640.5(ELP1):c.2014+6T>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.2015-2A>G rs1828729991
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.2020C>T (p.Gln674Ter) rs2131988821
NM_003640.5(ELP1):c.2025C>A (p.Ala675=) rs200532312
NM_003640.5(ELP1):c.2025C>G (p.Ala675=)
NM_003640.5(ELP1):c.202del (p.Ser68fs)
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.2035del (p.Ser679fs) rs1587895234
NM_003640.5(ELP1):c.2036G>A (p.Ser679Asn) rs1828727895
NM_003640.5(ELP1):c.2039A>G (p.Asn680Ser)
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.2052T>C (p.His684=)
NM_003640.5(ELP1):c.2054G>A (p.Gly685Glu) rs2131988688
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.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.2070A>G (p.Lys690=) rs2131988616
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2079G>A (p.Arg693=)
NM_003640.5(ELP1):c.2080G>T (p.Gly694Cys)
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2088G>A (p.Arg696=)
NM_003640.5(ELP1):c.2088del (p.Ile697fs) rs2131988498
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.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.2119C>G (p.Leu707Val) rs769927115
NM_003640.5(ELP1):c.2124A>G (p.Val708=)
NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
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.2131A>G (p.Met711Val)
NM_003640.5(ELP1):c.2151A>G (p.Glu717=)
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2161C>G (p.His721Asp) rs1300413546
NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)
NM_003640.5(ELP1):c.2170C>G (p.Leu724Val)
NM_003640.5(ELP1):c.2176T>C (p.Leu726=) rs2131987533
NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)
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+141dup rs369301164
NM_003640.5(ELP1):c.2204+14T>C
NM_003640.5(ELP1):c.2204+18G>A
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2204+3_2204+6del
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.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2205-4A>G
NM_003640.5(ELP1):c.2205-9T>C
NM_003640.5(ELP1):c.221T>C (p.Val74Ala)
NM_003640.5(ELP1):c.2220G>A (p.Glu740=) rs2131985204
NM_003640.5(ELP1):c.2223A>G (p.Ala741=)
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2232C>T (p.Cys744=)
NM_003640.5(ELP1):c.2252A>G (p.Asn751Ser)
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2256C>G (p.Leu752=) rs748119170
NM_003640.5(ELP1):c.2262G>A (p.Leu754=)
NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter) rs1828651198
NM_003640.5(ELP1):c.2277C>T (p.Asn759=)
NM_003640.5(ELP1):c.2281A>G (p.Lys761Glu) rs1003255472
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)
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.2286G>A (p.Val762=)
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.2322A>T (p.Ile774=) rs1427912191
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2326T>A (p.Ser776Thr)
NM_003640.5(ELP1):c.2328T>C (p.Ser776=) rs754322219
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.2340T>C (p.Ile780=) rs2131984565
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.235G>C (p.Asp79His) rs1554703582
NM_003640.5(ELP1):c.235G>T (p.Asp79Tyr)
NM_003640.5(ELP1):c.2363+14A>G rs2131984488
NM_003640.5(ELP1):c.2363+159G>T rs2275628
NM_003640.5(ELP1):c.2363+18T>G
NM_003640.5(ELP1):c.2363+20del
NM_003640.5(ELP1):c.2363A>G (p.Lys788Arg)
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.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.2376C>T (p.Val792=)
NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg) rs201596987
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.2387T>C (p.Met796Thr)
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.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.2406C>G (p.Thr802=)
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn) rs1445493033
NM_003640.5(ELP1):c.2412T>C (p.Ser804=)
NM_003640.5(ELP1):c.2414T>C (p.Val805Ala) rs1564084435
NM_003640.5(ELP1):c.2415C>T (p.Val805=) rs2131981981
NM_003640.5(ELP1):c.2420T>A (p.Leu807Gln) rs2131981963
NM_003640.5(ELP1):c.2424C>T (p.Ser808=) rs1227586609
NM_003640.5(ELP1):c.2427G>A (p.Arg809=)
NM_003640.5(ELP1):c.2431C>T (p.Pro811Ser) rs765376716
NM_003640.5(ELP1):c.2433T>C (p.Pro811=) rs1361966261
NM_003640.5(ELP1):c.2437G>A (p.Gly813Arg)
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp) rs1587926883
NM_003640.5(ELP1):c.2445A>G (p.Lys815=)
NM_003640.5(ELP1):c.2450del (p.Asp817fs)
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.2467A>G (p.Met823Val)
NM_003640.5(ELP1):c.2468_2469del (p.Met823fs)
NM_003640.5(ELP1):c.2474C>T (p.Ala825Val)
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
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.249del (p.Cys84fs)
NM_003640.5(ELP1):c.24G>A (p.Arg8=)
NM_003640.5(ELP1):c.2501+1G>A rs2131981589
NM_003640.5(ELP1):c.2501+2T>C
NM_003640.5(ELP1):c.2501+3A>G
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
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>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.2505C>T (p.Tyr835=) rs1564084140
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2508C>T (p.Cys836=)
NM_003640.5(ELP1):c.2511A>G (p.Leu837=)
NM_003640.5(ELP1):c.2521dup (p.Thr841fs)
NM_003640.5(ELP1):c.2523A>G (p.Thr841=) rs1587891082
NM_003640.5(ELP1):c.2528A>G (p.His843Arg) rs1828577961
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
NM_003640.5(ELP1):c.2530G>T (p.Val844Leu) rs754119022
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.254_255dup (p.Ala86fs) rs1306800890
NM_003640.5(ELP1):c.254del (p.Val85fs)
NM_003640.5(ELP1):c.2552T>A (p.Leu851Gln)
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
NM_003640.5(ELP1):c.2567A>C (p.Gln856Pro)
NM_003640.5(ELP1):c.2568A>G (p.Gln856=)
NM_003640.5(ELP1):c.2573T>C (p.Val858Ala) rs2131981161
NM_003640.5(ELP1):c.2574A>T (p.Val858=)
NM_003640.5(ELP1):c.2576A>G (p.His859Arg)
NM_003640.5(ELP1):c.2576del (p.His859fs)
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly) rs199796698
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
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+2T>G rs1554695299
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.2588-2A>G
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.2588-97A>G rs2275626
NM_003640.5(ELP1):c.2588-9C>T
NM_003640.5(ELP1):c.2595T>G (p.Ala865=) rs1302575693
NM_003640.5(ELP1):c.2596C>T (p.Pro866Ser)
NM_003640.5(ELP1):c.2610T>C (p.Asp870=) rs2131980289
NM_003640.5(ELP1):c.2617A>G (p.Ser873Gly)
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
NM_003640.5(ELP1):c.2624_2625del (p.Glu875fs)
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.2642T>A (p.Leu881Ter) rs2131980225
NM_003640.5(ELP1):c.2649T>C (p.His883=) rs2131980207
NM_003640.5(ELP1):c.2652G>A (p.Leu884=)
NM_003640.5(ELP1):c.2653G>T (p.Val885Leu)
NM_003640.5(ELP1):c.2657dup (p.Asp886fs)
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.2677del (p.His893fs)
NM_003640.5(ELP1):c.2682T>A (p.Ser894=) rs1450438662
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys) rs200590656
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.2699_2700insGAGGGGC (p.Phe900fs)
NM_003640.5(ELP1):c.26C>T (p.Thr9Ile)
NM_003640.5(ELP1):c.2700T>C (p.Phe900=) rs2131980100
NM_003640.5(ELP1):c.2709C>T (p.Val903=)
NM_003640.5(ELP1):c.2714T>C (p.Met905Thr)
NM_003640.5(ELP1):c.2727G>A (p.Lys909=) rs2131980049
NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
NM_003640.5(ELP1):c.2736+12T>C
NM_003640.5(ELP1):c.2736+1G>A
NM_003640.5(ELP1):c.2736+1G>C
NM_003640.5(ELP1):c.2736+213A>G rs10979598
NM_003640.5(ELP1):c.2736+3A>G
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.2737-16_2737-14del
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.2737-9dup rs2131975511
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.2759_2772del (p.Pro919_Phe920insTer)
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.276C>T (p.Val92=) rs2132049929
NM_003640.5(ELP1):c.2772T>A (p.Leu924=) rs754622407
NM_003640.5(ELP1):c.2779del (p.Met927fs)
NM_003640.5(ELP1):c.2787T>C (p.Thr929=) rs1564081993
NM_003640.5(ELP1):c.2793T>C (p.Tyr931=)
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
NM_003640.5(ELP1):c.27C>G (p.Thr9=) rs963698427
NM_003640.5(ELP1):c.2803A>G (p.Thr935Ala) rs145484092
NM_003640.5(ELP1):c.2811C>T (p.Asp937=) rs1439801646
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
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.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2825G>C (p.Arg942Pro)
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2828A>G (p.Tyr943Cys) rs924119518
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.2835A>G (p.Lys945=)
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.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.2859T>A (p.Cys953Ter) rs762459906
NM_003640.5(ELP1):c.2860+16A>C
NM_003640.5(ELP1):c.2860+1G>A
NM_003640.5(ELP1):c.2860+1G>C
NM_003640.5(ELP1):c.2860+1_2860+7del rs2131975101
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.2860_2860+1delinsTA
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.2864C>G (p.Pro955Arg) rs758112773
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe) rs1828405751
NM_003640.5(ELP1):c.2891del (p.Asn963_Leu964insTer)
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
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>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.2910G>A (p.Leu970=)
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)
NM_003640.5(ELP1):c.2913T>C (p.Tyr971=) rs1312848493
NM_003640.5(ELP1):c.2917G>A (p.Glu973Lys)
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.2930T>A (p.Leu977Ter)
NM_003640.5(ELP1):c.2931A>G (p.Leu977=) rs1587886832
NM_003640.5(ELP1):c.2936C>T (p.Ser979Leu) rs2131973288
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.294C>T (p.Ser98=)
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
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+1G>C rs1239081703
NM_003640.5(ELP1):c.2958+3A>G rs1828401309
NM_003640.5(ELP1):c.2958+5G>A
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.2960A>T (p.Asp987Val)
NM_003640.5(ELP1):c.2969T>C (p.Ile990Thr)
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>G (p.Thr99=) rs1829937351
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.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.2997G>A (p.Glu999=) rs1288718353
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.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+1G>A
NM_003640.5(ELP1):c.303+5G>C
NM_003640.5(ELP1):c.303+7G>A
NM_003640.5(ELP1):c.3030C>G (p.Ala1010=)
NM_003640.5(ELP1):c.3035G>A (p.Cys1012Tyr)
NM_003640.5(ELP1):c.304-11C>G
NM_003640.5(ELP1):c.304-11del
NM_003640.5(ELP1):c.304-2A>C
NM_003640.5(ELP1):c.304-2A>G rs757972943
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.3056T>C (p.Leu1019Pro)
NM_003640.5(ELP1):c.3057C>G (p.Leu1019=)
NM_003640.5(ELP1):c.3057C>T (p.Leu1019=) rs781537201
NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)
NM_003640.5(ELP1):c.3060dup (p.Ala1021fs) rs151101843
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.3067C>T (p.Leu1023=)
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069G>T (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
NM_003640.5(ELP1):c.3071C>G (p.Thr1024Arg)
NM_003640.5(ELP1):c.3072A>C (p.Thr1024=)
NM_003640.5(ELP1):c.3075T>C (p.Cys1025=)
NM_003640.5(ELP1):c.307G>T (p.Glu103Ter) rs2132045613
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.3101T>A (p.Val1034Glu)
NM_003640.5(ELP1):c.3104C>T (p.Ala1035Val)
NM_003640.5(ELP1):c.3105A>G (p.Ala1035=)
NM_003640.5(ELP1):c.3107C>G (p.Ala1036Gly) rs766016072
NM_003640.5(ELP1):c.3108C>A (p.Ala1036=)
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
NM_003640.5(ELP1):c.3120T>C (p.Phe1040=) rs762300112
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.312T>C (p.Cys104=) rs1291760879
NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)
NM_003640.5(ELP1):c.3133C>T (p.Leu1045=)
NM_003640.5(ELP1):c.3136G>T (p.Val1046Leu)
NM_003640.5(ELP1):c.313G>T (p.Val105Phe) rs764767995
NM_003640.5(ELP1):c.3141C>T (p.Gly1047=)
NM_003640.5(ELP1):c.3145G>C (p.Gly1049Arg) rs761500263
NM_003640.5(ELP1):c.3160+12C>A
NM_003640.5(ELP1):c.3160+1G>T rs2131969608
NM_003640.5(ELP1):c.3161-4A>G
NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln)
NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter) rs1828239449
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.3195G>C (p.Ala1065=)
NM_003640.5(ELP1):c.3195G>T (p.Ala1065=) rs758321016
NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)
NM_003640.5(ELP1):c.3200dup (p.Met1067fs)
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.3216_3217del (p.Ala1073fs)
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
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+205T>G rs3780507
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.3224A>G (p.Asp1075Gly) rs1827955472
NM_003640.5(ELP1):c.3228T>C (p.Tyr1076=)
NM_003640.5(ELP1):c.3235G>A (p.Ala1079Thr)
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.3252del (p.Glu1085fs)
NM_003640.5(ELP1):c.3255A>G (p.Glu1085=) rs2118947292
NM_003640.5(ELP1):c.3258A>T (p.Gly1086=) rs2118947272
NM_003640.5(ELP1):c.3277T>C (p.Leu1093=) rs2118947177
NM_003640.5(ELP1):c.3280A>C (p.Arg1094=)
NM_003640.5(ELP1):c.3283C>G (p.Leu1095Val)
NM_003640.5(ELP1):c.3284T>C (p.Leu1095Pro)
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.3285+1G>C rs1287123881
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
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.3286-1G>A
NM_003640.5(ELP1):c.3286-1G>C
NM_003640.5(ELP1):c.3286-1G>T rs1159691474
NM_003640.5(ELP1):c.3286-20T>C
NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter) rs924743948
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.3304C>T (p.Leu1102=) rs2118946145
NM_003640.5(ELP1):c.3313A>G (p.Ile1105Val) rs2118946082
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
NM_003640.5(ELP1):c.3321C>A (p.Thr1107=)
NM_003640.5(ELP1):c.3321C>G (p.Thr1107=)
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.3330G>A (p.Lys1110=) rs1353763056
NM_003640.5(ELP1):c.3336C>T (p.Ser1112=) rs776561246
NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu) rs763262745
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) rs906880093
NM_003640.5(ELP1):c.3346+19A>G
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3346+3G>A
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.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.3363_3366del (p.Met1121fs)
NM_003640.5(ELP1):c.3366A>G (p.Ala1122=)
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.3378dup (p.Gln1127fs) rs1302114356
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3395G>T (p.Ser1132Ile)
NM_003640.5(ELP1):c.3397C>A (p.Arg1133Ser)
NM_003640.5(ELP1):c.33G>A (p.Glu11=) rs2132053041
NM_003640.5(ELP1):c.3408del (p.Lys1136fs) rs1564072540
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.3433A>G (p.Lys1145Glu)
NM_003640.5(ELP1):c.3438G>A (p.Glu1146=) rs931836170
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
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+1G>A rs1478450302
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.3461-2A>G
NM_003640.5(ELP1):c.3461-6T>C
NM_003640.5(ELP1):c.3461-78_3461-75del rs10550153
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.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3468G>A (p.Glu1156=) rs1236050758
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3474C>A (p.Pro1158=)
NM_003640.5(ELP1):c.3475dup (p.His1159fs) rs2118938912
NM_003640.5(ELP1):c.3482A>G (p.Gln1161Arg)
NM_003640.5(ELP1):c.3486G>A (p.Glu1162=) rs1179560945
NM_003640.5(ELP1):c.3489A>G (p.Ser1163=)
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs) rs1587924452
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.3498C>T (p.Phe1166=) rs764005359
NM_003640.5(ELP1):c.349del (p.Trp117fs) rs1587924458
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)
NM_003640.5(ELP1):c.3510del (p.Ser1170fs)
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)
NM_003640.5(ELP1):c.3517G>A (p.Val1173Met)
NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn) rs143008686
NM_003640.5(ELP1):c.3525C>T (p.Gly1175=) rs886288391
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
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.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.3573-10T>C
NM_003640.5(ELP1):c.3573-14_3573-13del
NM_003640.5(ELP1):c.3573-16G>A
NM_003640.5(ELP1):c.3573-1G>A rs2118936334
NM_003640.5(ELP1):c.3573-20A>G
NM_003640.5(ELP1):c.3573-6T>C
NM_003640.5(ELP1):c.3573-9T>C
NM_003640.5(ELP1):c.3578del (p.Ser1193fs)
NM_003640.5(ELP1):c.357T>C (p.Pro119=) rs761020794
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.3592C>A (p.Arg1198=)
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.3600G>C (p.Ala1200=)
NM_003640.5(ELP1):c.3604C>A (p.Arg1202=)
NM_003640.5(ELP1):c.3605G>A (p.Arg1202Gln)
NM_003640.5(ELP1):c.3606G>A (p.Arg1202=)
NM_003640.5(ELP1):c.3606G>C (p.Arg1202=)
NM_003640.5(ELP1):c.3608del (p.Lys1203fs)
NM_003640.5(ELP1):c.3609G>T (p.Lys1203Asn) rs2118936145
NM_003640.5(ELP1):c.3611A>G (p.Lys1204Arg)
NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)
NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
NM_003640.5(ELP1):c.3631_3634dup (p.Pro1212fs)
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.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3648G>C (p.Leu1216=)
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.3651C>T (p.Ala1217=)
NM_003640.5(ELP1):c.3661G>A (p.Ala1221Thr)
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.3673GTG[1] (p.Val1226del) rs1306291143
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.3688G>T (p.Glu1230Ter) rs764936574
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
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.3700+3A>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.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3701-2A>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.3707T>C (p.Val1236Ala)
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.3714dup (p.Ile1239fs) rs1827772289
NM_003640.5(ELP1):c.3715A>G (p.Ile1239Val)
NM_003640.5(ELP1):c.3717T>C (p.Ile1239=)
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
NM_003640.5(ELP1):c.3726A>G (p.Val1242=)
NM_003640.5(ELP1):c.3732T>C (p.Phe1244=) rs2118934404
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.3756A>G (p.Gly1252=)
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly) rs760084617
NM_003640.5(ELP1):c.3762A>G (p.Glu1254=) rs2118934304
NM_003640.5(ELP1):c.3765dup (p.Gln1256fs) rs2118934288
NM_003640.5(ELP1):c.3768G>A (p.Gln1256=) rs2118934270
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
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.3779A>T (p.Glu1260Val) rs1827768156
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3792G>A (p.Gln1264=)
NM_003640.5(ELP1):c.3807A>G (p.Ser1269=) rs2118934095
NM_003640.5(ELP1):c.3808C>G (p.Leu1270Val)
NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter) rs543759021
NM_003640.5(ELP1):c.3825T>A (p.Thr1275=) rs1234173300
NM_003640.5(ELP1):c.3828T>C (p.Leu1276=)
NM_003640.5(ELP1):c.3829dup (p.Thr1277fs)
NM_003640.5(ELP1):c.3831T>C (p.Thr1277=)
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
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+1G>A rs1554703061
NM_003640.5(ELP1):c.385+6C>G
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+1G>T rs1827764134
NM_003640.5(ELP1):c.3855+2T>G rs2118933859
NM_003640.5(ELP1):c.3855+8_3855+9del
NM_003640.5(ELP1):c.3855+9T>G rs533673443
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.3856-1G>A
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.386-2A>C rs1554702880
NM_003640.5(ELP1):c.386-5C>G
NM_003640.5(ELP1):c.3865C>T (p.Pro1289Ser)
NM_003640.5(ELP1):c.3866_3870del (p.Pro1289fs) rs2118925108
NM_003640.5(ELP1):c.3867C>T (p.Pro1289=)
NM_003640.5(ELP1):c.3870T>C (p.Asn1290=)
NM_003640.5(ELP1):c.3872C>G (p.Ser1291Cys) rs1827646757
NM_003640.5(ELP1):c.3874A>C (p.Thr1292Pro)
NM_003640.5(ELP1):c.3876T>A (p.Thr1292=)
NM_003640.5(ELP1):c.3880A>G (p.Asn1294Asp)
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.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+16C>T
NM_003640.5(ELP1):c.3931+17A>C
NM_003640.5(ELP1):c.3931+17A>G
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3931+20del rs758104586
NM_003640.5(ELP1):c.3931+3_3931+6del rs1827641020
NM_003640.5(ELP1):c.3932-14T>C
NM_003640.5(ELP1):c.3932-4T>C rs2118907255
NM_003640.5(ELP1):c.3932-5T>A
NM_003640.5(ELP1):c.3932-7C>G
NM_003640.5(ELP1):c.3932-7C>T rs1474178691
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.3945T>C (p.Phe1315=)
NM_003640.5(ELP1):c.3951A>T (p.Pro1317=) rs1212162839
NM_003640.5(ELP1):c.3955A>G (p.Lys1319Glu)
NM_003640.5(ELP1):c.3956del (p.Lys1319fs) rs2118907171
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.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.3979A>T (p.Lys1327Ter)
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.452A>T (p.Asp151Val) rs1829829317
NM_003640.5(ELP1):c.461G>C (p.Gly154Ala) rs2132043743
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+2T>G
NM_003640.5(ELP1):c.466+5G>C rs745386940
NM_003640.5(ELP1):c.466+8T>A
NM_003640.5(ELP1):c.466+8T>C
NM_003640.5(ELP1):c.467-10del rs750475941
NM_003640.5(ELP1):c.467-12A>T rs1300230302
NM_003640.5(ELP1):c.467-4G>A
NM_003640.5(ELP1):c.474dup (p.Ile159fs) rs1829700782
NM_003640.5(ELP1):c.477C>T (p.Ile159=) rs2132037572
NM_003640.5(ELP1):c.480T>C (p.Thr160=)
NM_003640.5(ELP1):c.482T>C (p.Val161Ala)
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.490G>C (p.Gly164Arg) rs765765951
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
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.505C>T (p.Gln169Ter)
NM_003640.5(ELP1):c.505_506del (p.Gln169fs) rs1829698275
NM_003640.5(ELP1):c.505_506dup (p.Gln169fs)
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.529C>T (p.Gln177Ter)
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.54del (p.Asn20fs) rs1554703874
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+2T>A rs1554702142
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.552+9G>A rs2132037328
NM_003640.5(ELP1):c.553-14_553-5del
NM_003640.5(ELP1):c.553-18G>A
NM_003640.5(ELP1):c.553-1G>A
NM_003640.5(ELP1):c.553-214G>C rs7029072
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.555delinsATGAAGACA (p.His185delinsGlnTer)
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.56G>A (p.Gly19Glu) rs771715592
NM_003640.5(ELP1):c.570C>A (p.Pro190=)
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) rs1829561209
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn) rs775011794
NM_003640.5(ELP1):c.574del (p.Asp192fs)
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
NM_003640.5(ELP1):c.57G>A (p.Gly19=)
NM_003640.5(ELP1):c.581A>G (p.His194Arg) rs1682473914
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.597del (p.Trp200fs)
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)
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.609_610dup (p.Gly204fs)
NM_003640.5(ELP1):c.61C>T (p.Pro21Ser)
NM_003640.5(ELP1):c.621T>C (p.Phe207=) rs2132031316
NM_003640.5(ELP1):c.626T>C (p.Val209Ala) rs1039834492
NM_003640.5(ELP1):c.626_627del (p.Val209fs)
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
NM_003640.5(ELP1):c.628_631dup (p.Val211fs)
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
NM_003640.5(ELP1):c.63T>C (p.Pro21=)
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
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.649+1G>A rs1564102412
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.64C>T (p.Gln22Ter) rs2132052954
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.650-18G>T
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.653C>T (p.Ala218Val) rs1564102159
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly) rs777975034
NM_003640.5(ELP1):c.666_667del (p.Arg222fs)
NM_003640.5(ELP1):c.66G>A (p.Gln22=) rs2132052950
NM_003640.5(ELP1):c.671G>A (p.Trp224Ter) rs1829544561
NM_003640.5(ELP1):c.674_678del (p.Asn225fs) rs1449016398
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
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.687T>G (p.Ala229=) rs2132030477
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.697A>T (p.Thr233Ser)
NM_003640.5(ELP1):c.697dup (p.Thr233fs)
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.738G>A (p.Trp246Ter)
NM_003640.5(ELP1):c.740+11G>T
NM_003640.5(ELP1):c.740+12A>T
NM_003640.5(ELP1):c.740+153dup rs35212638
NM_003640.5(ELP1):c.740+1G>T
NM_003640.5(ELP1):c.741-104TCAT[5] rs57787716
NM_003640.5(ELP1):c.741-19A>G
NM_003640.5(ELP1):c.741-2A>C
NM_003640.5(ELP1):c.741-4T>G rs1829498906
NM_003640.5(ELP1):c.741-5_741-4dup rs2132028216
NM_003640.5(ELP1):c.741-9T>C
NM_003640.5(ELP1):c.744C>T (p.Pro248=) rs777540385
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)
NM_003640.5(ELP1):c.74C>T (p.Ser25Phe) rs1829990677
NM_003640.5(ELP1):c.750C>A (p.Gly250=) rs2132028153
NM_003640.5(ELP1):c.755T>G (p.Leu252Trp) rs1829498017
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.772G>C (p.Asp258His)
NM_003640.5(ELP1):c.777A>G (p.Lys259=)
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.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.791A>G (p.Asp264Gly)
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.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.812del (p.Asn271fs)
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
NM_003640.5(ELP1):c.816A>C (p.Gly272=) rs201336920
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
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.824A>G (p.His275Arg) rs1564100993
NM_003640.5(ELP1):c.825T>C (p.His275=) rs2132027893
NM_003640.5(ELP1):c.836del (p.Thr279fs)
NM_003640.5(ELP1):c.837A>G (p.Thr279=)
NM_003640.5(ELP1):c.838C>T (p.Leu280Phe)
NM_003640.5(ELP1):c.840T>C (p.Leu280=)
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+17G>A
NM_003640.5(ELP1):c.864+62dup rs34189987
NM_003640.5(ELP1):c.864+6T>C rs1829486746
NM_003640.5(ELP1):c.864+78_864+79del rs34189987
NM_003640.5(ELP1):c.864+79del rs34189987
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.881G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe) rs1288706972
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.909_919del (p.Trp304fs) rs2132025166
NM_003640.5(ELP1):c.915G>A (p.Leu305=)
NM_003640.5(ELP1):c.916G>A (p.Glu306Lys)
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.943A>G (p.Ile315Val)
NM_003640.5(ELP1):c.94del (p.Thr32fs)
NM_003640.5(ELP1):c.954_958+7del rs2132025021
NM_003640.5(ELP1):c.955del (p.Cys319fs)
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.958+1G>A
NM_003640.5(ELP1):c.958G>A (p.Val320Ile)
NM_003640.5(ELP1):c.959-11T>A
NM_003640.5(ELP1):c.959-16T>A
NM_003640.5(ELP1):c.959-1G>A rs2132017099
NM_003640.5(ELP1):c.959-20C>T
NM_003640.5(ELP1):c.959-225dup rs199537662
NM_003640.5(ELP1):c.959-259C>A rs12340653
NM_003640.5(ELP1):c.959-260del rs554750757
NM_003640.5(ELP1):c.959-275dup rs554750757
NM_003640.5(ELP1):c.959-2A>C
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.97del (p.Val33fs) rs1554703851
NM_003640.5(ELP1):c.982dup (p.Tyr328fs) rs2132017050
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)
NM_003640.5(ELP1):c.984T>C (p.Tyr328=)
NM_003640.5(ELP1):c.987C>G (p.His329Gln) rs764033545
NM_003640.5(ELP1):c.990G>A (p.Trp330Ter) rs1829265811
NM_003640.5(ELP1):c.993T>C (p.Tyr331=)
NM_003640.5(ELP1):c.996C>T (p.Leu332=) rs2132017008
NM_017832.2(ABITRAM):c.-147G>C rs1251331564

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