ClinVar Miner

List of variants in gene ELP1 reported as likely benign for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 973
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2130+141G>A rs55780406 0.02141
NM_003640.5(ELP1):c.304-301C>T rs151102621 0.01849
NM_003640.5(ELP1):c.1854+297A>G rs117286243 0.01625
NM_003640.5(ELP1):c.3932-281C>G rs118146489 0.01615
NM_003640.5(ELP1):c.2861-295A>G rs56143112 0.01318
NM_003640.5(ELP1):c.1644-203G>A rs74699859 0.01037
NM_003640.5(ELP1):c.150+287T>G rs1001374513 0.00950
NM_003640.5(ELP1):c.2363+70A>G rs41313339 0.00891
NM_003640.5(ELP1):c.740+189A>T rs73526118 0.00857
NM_003640.5(ELP1):c.864+251G>A rs113508452 0.00851
NM_003640.5(ELP1):c.959-44T>G rs74919405 0.00789
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.1854+41C>T rs116141575 0.00603
NM_003640.5(ELP1):c.1644-155A>G rs565146732 0.00530
NM_003640.5(ELP1):c.3931+151A>T rs143673059 0.00519
NM_003640.5(ELP1):c.3461-163G>A rs142241038 0.00515
NM_003640.5(ELP1):c.1855-38A>G rs114088295 0.00508
NM_003640.5(ELP1):c.552+215G>A rs142701683 0.00477
NM_003640.5(ELP1):c.3160+47A>T rs143250122 0.00457
NM_003640.5(ELP1):c.3931+39A>G rs149721955 0.00408
NM_003640.5(ELP1):c.2588-143A>T rs73512446 0.00374
NM_003640.5(ELP1):c.1189+211A>G rs530222422 0.00337
NM_003640.5(ELP1):c.1750+154A>G rs55778443 0.00323
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_003640.5(ELP1):c.467-38C>A rs147310486 0.00239
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107 0.00210
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.1460+16T>A rs146162690 0.00044
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00038
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003640.5(ELP1):c.959-10T>C rs144059169 0.00035
NM_003640.5(ELP1):c.3855+19G>A rs113767921 0.00026
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_003640.5(ELP1):c.650-7C>T rs368410371 0.00022
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003640.5(ELP1):c.2958+29C>T rs141550637 0.00021
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297 0.00021
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312 0.00020
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789 0.00018
NM_003640.5(ELP1):c.2916C>T (p.Asn972=) rs752886385 0.00018
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_003640.5(ELP1):c.1830C>T (p.Thr610=) rs113048987 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787 0.00014
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.2577C>T (p.His859=) rs768252666 0.00011
NM_003640.5(ELP1):c.3573-7C>G rs370571926 0.00011
NM_003640.5(ELP1):c.3460+13G>A rs149897637 0.00010
NM_003640.5(ELP1):c.3708A>G (p.Val1236=) rs368761085 0.00010
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=) rs149038322 0.00010
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) rs748458910 0.00009
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_003640.5(ELP1):c.304-7G>A rs374063549 0.00008
NM_003640.5(ELP1):c.3346+7G>T rs144631706 0.00008
NM_003640.5(ELP1):c.150+16A>G rs148164198 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=) rs371960059 0.00007
NM_003640.5(ELP1):c.3600G>A (p.Ala1200=) rs769196025 0.00007
NM_003640.5(ELP1):c.-31G>C rs375962780 0.00006
NM_003640.5(ELP1):c.1665G>A (p.Gly555=) rs558485897 0.00006
NM_003640.5(ELP1):c.1854+18A>G rs779969470 0.00006
NM_003640.5(ELP1):c.1914G>A (p.Ala638=) rs142096497 0.00006
NM_003640.5(ELP1):c.2588-6T>G rs1350078150 0.00006
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527 0.00006
NM_003640.5(ELP1):c.740+10A>G rs1346624747 0.00006
NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys) rs747603780 0.00005
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.3223-16C>G rs372907186 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_003640.5(ELP1):c.649+12T>C rs375554772 0.00005
NM_003640.5(ELP1):c.1444T>C (p.Leu482=) rs753849574 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.1860T>C (p.Cys620=) rs769936175 0.00004
NM_003640.5(ELP1):c.1954T>C (p.Leu652=) rs757287712 0.00004
NM_003640.5(ELP1):c.2205-9T>G rs762448047 0.00004
NM_003640.5(ELP1):c.246T>C (p.Ser82=) rs1356191121 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.304-5C>T rs370384351 0.00004
NM_003640.5(ELP1):c.3045C>T (p.His1015=) rs772697433 0.00004
NM_003640.5(ELP1):c.3060A>G (p.Ser1020=) rs1342216283 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3461-8T>C rs778083125 0.00004
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=) rs781284578 0.00004
NM_003640.5(ELP1):c.3639G>A (p.Leu1213=) rs377677858 0.00004
NM_003640.5(ELP1):c.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.483T>C (p.Val161=) rs537635969 0.00004
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 0.00004
NM_003640.5(ELP1):c.958+20C>T rs370413742 0.00004
NM_003640.5(ELP1):c.1335T>C (p.Ser445=) rs777207577 0.00003
NM_003640.5(ELP1):c.1834T>C (p.Leu612=) rs768084021 0.00003
NM_003640.5(ELP1):c.2082T>A (p.Gly694=) rs760054484 0.00003
NM_003640.5(ELP1):c.2097T>C (p.Thr699=) rs144352068 0.00003
NM_003640.5(ELP1):c.270A>T (p.Gly90=) rs200640674 0.00003
NM_003640.5(ELP1):c.2748A>G (p.Glu916=) rs200551647 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_003640.5(ELP1):c.3309T>C (p.Asp1103=) rs1140075 0.00003
NM_003640.5(ELP1):c.3460+12C>T rs576315331 0.00003
NM_003640.5(ELP1):c.423G>A (p.Glu141=) rs567960748 0.00003
NM_003640.5(ELP1):c.579C>T (p.Asp193=) rs766231058 0.00003
NM_003640.5(ELP1):c.741-8G>A rs962023744 0.00003
NM_003640.5(ELP1):c.858G>A (p.Glu286=) rs147517999 0.00003
NM_003640.5(ELP1):c.1437T>G (p.Thr479=) rs1341178262 0.00002
NM_003640.5(ELP1):c.1470T>C (p.Phe490=) rs768311202 0.00002
NM_003640.5(ELP1):c.1491T>C (p.Asp497=) rs775020540 0.00002
NM_003640.5(ELP1):c.1593G>A (p.Leu531=) rs773965613 0.00002
NM_003640.5(ELP1):c.1839C>T (p.Ala613=) rs774365133 0.00002
NM_003640.5(ELP1):c.1854+13G>A rs138183089 0.00002
NM_003640.5(ELP1):c.195G>A (p.Glu65=) rs751267638 0.00002
NM_003640.5(ELP1):c.2172G>C (p.Leu724=) rs202166505 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 0.00002
NM_003640.5(ELP1):c.2880A>G (p.Glu960=) rs779444024 0.00002
NM_003640.5(ELP1):c.2958+10A>T rs768709875 0.00002
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=) rs781623768 0.00002
NM_003640.5(ELP1):c.3036C>T (p.Cys1012=) rs528740327 0.00002
NM_003640.5(ELP1):c.3072A>G (p.Thr1024=) rs758372070 0.00002
NM_003640.5(ELP1):c.3160+27A>G rs1341213 0.00002
NM_003640.5(ELP1):c.3270A>G (p.Glu1090=) rs1487288025 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.3816A>G (p.Glu1272=) rs145380688 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_003640.5(ELP1):c.553-8C>G rs530487391 0.00002
NM_003640.5(ELP1):c.102C>T (p.Leu34=) rs1381472784 0.00001
NM_003640.5(ELP1):c.1047G>C (p.Leu349=) rs781560088 0.00001
NM_003640.5(ELP1):c.1065C>T (p.Thr355=) rs1230924720 0.00001
NM_003640.5(ELP1):c.1080T>C (p.His360=) rs1214789434 0.00001
NM_003640.5(ELP1):c.1107C>T (p.Leu369=) rs1259460083 0.00001
NM_003640.5(ELP1):c.1116T>C (p.Asp372=) rs144878787 0.00001
NM_003640.5(ELP1):c.111A>G (p.Ser37=) rs750185740 0.00001
NM_003640.5(ELP1):c.1128G>A (p.Thr376=) rs781087704 0.00001
NM_003640.5(ELP1):c.1176T>C (p.Ala392=) rs753979416 0.00001
NM_003640.5(ELP1):c.1190-4G>A rs774965847 0.00001
NM_003640.5(ELP1):c.1224G>A (p.Val408=) rs151157900 0.00001
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233 0.00001
NM_003640.5(ELP1):c.1255C>T (p.Leu419=) rs755790483 0.00001
NM_003640.5(ELP1):c.1260C>T (p.Phe420=) rs752386597 0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951 0.00001
NM_003640.5(ELP1):c.1284A>T (p.Thr428=) rs946387194 0.00001
NM_003640.5(ELP1):c.1305G>A (p.Lys435=) rs769900761 0.00001
NM_003640.5(ELP1):c.1320T>A (p.Ala440=) rs745616203 0.00001
NM_003640.5(ELP1):c.1323T>C (p.Val441=) rs200925118 0.00001
NM_003640.5(ELP1):c.1386A>G (p.Thr462=) rs1829093869 0.00001
NM_003640.5(ELP1):c.1497C>T (p.Asn499=) rs1410534323 0.00001
NM_003640.5(ELP1):c.150+8dup rs771847077 0.00001
NM_003640.5(ELP1):c.151-10T>C rs768610434 0.00001
NM_003640.5(ELP1):c.151-16T>A rs374246294 0.00001
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078 0.00001
NM_003640.5(ELP1):c.1543C>T (p.Leu515=) rs1193566565 0.00001
NM_003640.5(ELP1):c.1647A>T (p.Ser549=) rs758761513 0.00001
NM_003640.5(ELP1):c.1656G>A (p.Ala552=) rs200535861 0.00001
NM_003640.5(ELP1):c.177A>G (p.Ala59=) rs1298186722 0.00001
NM_003640.5(ELP1):c.180A>G (p.Glu60=) rs1326806855 0.00001
NM_003640.5(ELP1):c.1833A>G (p.Glu611=) rs1587898434 0.00001
NM_003640.5(ELP1):c.186T>C (p.Phe62=) rs752573144 0.00001
NM_003640.5(ELP1):c.1909-12C>T rs963492786 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.1938A>G (p.Val646=) rs750906847 0.00001
NM_003640.5(ELP1):c.1947G>A (p.Glu649=) rs1564088262 0.00001
NM_003640.5(ELP1):c.1974T>C (p.His658=) rs1308350085 0.00001
NM_003640.5(ELP1):c.2014+18A>G rs1828800296 0.00001
NM_003640.5(ELP1):c.2015-20T>C rs760415006 0.00001
NM_003640.5(ELP1):c.2031G>C (p.Leu677=) rs1315300646 0.00001
NM_003640.5(ELP1):c.2043T>C (p.His681=) rs147944437 0.00001
NM_003640.5(ELP1):c.2131-8T>G rs1220473264 0.00001
NM_003640.5(ELP1):c.2169C>T (p.Ala723=) rs1221473738 0.00001
NM_003640.5(ELP1):c.2193G>A (p.Lys731=) rs1828700001 0.00001
NM_003640.5(ELP1):c.2205-5C>T rs990520942 0.00001
NM_003640.5(ELP1):c.2274T>C (p.His758=) rs751132422 0.00001
NM_003640.5(ELP1):c.2295A>T (p.Gly765=) rs137874743 0.00001
NM_003640.5(ELP1):c.2364-12A>C rs1828595619 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2373T>C (p.Asp791=) rs1477728054 0.00001
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925 0.00001
NM_003640.5(ELP1):c.2454T>C (p.Leu818=) rs893395625 0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) rs181121832 0.00001
NM_003640.5(ELP1):c.2501+8T>C rs189797561 0.00001
NM_003640.5(ELP1):c.2502-13C>T rs138510668 0.00001
NM_003640.5(ELP1):c.2502-18C>T rs776675315 0.00001
NM_003640.5(ELP1):c.2502-7A>G rs372939186 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 0.00001
NM_003640.5(ELP1):c.2588-13T>C rs771396300 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.2730A>G (p.Ser910=) rs1183324668 0.00001
NM_003640.5(ELP1):c.2736+16A>T rs200522819 0.00001
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917 0.00001
NM_003640.5(ELP1):c.2742C>T (p.Pro914=) rs1241171896 0.00001
NM_003640.5(ELP1):c.2757A>G (p.Pro919=) rs752259389 0.00001
NM_003640.5(ELP1):c.2772T>G (p.Leu924=) rs754622407 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.2861-6C>T rs779426934 0.00001
NM_003640.5(ELP1):c.2871C>T (p.Tyr957=) rs745494653 0.00001
NM_003640.5(ELP1):c.291C>A (p.Leu97=) rs1829937643 0.00001
NM_003640.5(ELP1):c.2922T>A (p.Ala974=) rs1828403034 0.00001
NM_003640.5(ELP1):c.2959-8T>C rs763776119 0.00001
NM_003640.5(ELP1):c.2959-9T>C rs1395219994 0.00001
NM_003640.5(ELP1):c.3012A>G (p.Pro1004=) rs770000077 0.00001
NM_003640.5(ELP1):c.303+11G>A rs549703822 0.00001
NM_003640.5(ELP1):c.304-18C>T rs147293637 0.00001
NM_003640.5(ELP1):c.3063C>T (p.Ala1021=) rs1267849190 0.00001
NM_003640.5(ELP1):c.3129C>T (p.Asp1043=) rs772768117 0.00001
NM_003640.5(ELP1):c.3132G>A (p.Gln1044=) rs1174806746 0.00001
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=) rs764867856 0.00001
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) rs1315617472 0.00001
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=) rs544766218 0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) rs112178985 0.00001
NM_003640.5(ELP1):c.3222+10A>G rs770916141 0.00001
NM_003640.5(ELP1):c.3222+8C>G rs1159708225 0.00001
NM_003640.5(ELP1):c.3223-10C>G rs753410907 0.00001
NM_003640.5(ELP1):c.3223-9C>T rs777231662 0.00001
NM_003640.5(ELP1):c.3249G>C (p.Leu1083=) rs759873552 0.00001
NM_003640.5(ELP1):c.3321C>T (p.Thr1107=) rs1440207150 0.00001
NM_003640.5(ELP1):c.3354A>G (p.Lys1118=) rs1210871913 0.00001
NM_003640.5(ELP1):c.3378T>C (p.Ser1126=) rs764056417 0.00001
NM_003640.5(ELP1):c.3461-9C>G rs995554626 0.00001
NM_003640.5(ELP1):c.3489A>C (p.Ser1163=) rs765087809 0.00001
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076 0.00001
NM_003640.5(ELP1):c.3516C>T (p.Val1172=) rs371811911 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 0.00001
NM_003640.5(ELP1):c.3701-10T>G rs1827773831 0.00001
NM_003640.5(ELP1):c.3714T>C (p.His1238=) rs749975442 0.00001
NM_003640.5(ELP1):c.3783T>C (p.Asp1261=) rs1473679154 0.00001
NM_003640.5(ELP1):c.3786G>A (p.Thr1262=) rs775118324 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.385+7T>C rs747004579 0.00001
NM_003640.5(ELP1):c.3856-6C>T rs1159420429 0.00001
NM_003640.5(ELP1):c.3859C>T (p.Leu1287=) rs1191442185 0.00001
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=) rs772800681 0.00001
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=) rs146862778 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_003640.5(ELP1):c.3931+8T>C rs1419758592 0.00001
NM_003640.5(ELP1):c.3987C>T (p.Ser1329=) rs144816863 0.00001
NM_003640.5(ELP1):c.466+7A>G rs1242699541 0.00001
NM_003640.5(ELP1):c.552+12T>C rs762061745 0.00001
NM_003640.5(ELP1):c.624T>C (p.Ala208=) rs772320418 0.00001
NM_003640.5(ELP1):c.663C>T (p.Val221=) rs1453507748 0.00001
NM_003640.5(ELP1):c.717A>C (p.Gly239=) rs1333495798 0.00001
NM_003640.5(ELP1):c.744C>G (p.Pro248=) rs777540385 0.00001
NM_003640.5(ELP1):c.768A>G (p.Thr256=) rs985459923 0.00001
NM_003640.5(ELP1):c.813T>C (p.Asn271=) rs1829489780 0.00001
NM_003640.5(ELP1):c.843C>T (p.Pro281=) rs1377438174 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003640.5(ELP1):c.924T>C (p.Leu308=) rs776506989 0.00001
NM_003640.5(ELP1):c.93G>T (p.Gly31=) rs778404648 0.00001
NM_003640.5(ELP1):c.958+11T>G rs201309418 0.00001
NM_003640.5(ELP1):c.958+7C>T rs771601576 0.00001
NM_003640.5(ELP1):c.958+8A>T rs745559487 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003640.5(ELP1):c.96G>A (p.Thr32=) rs748202041 0.00001
NM_003640.5(ELP1):c.-155A>T rs117100816
NM_003640.5(ELP1):c.1002A>G (p.Gln334=)
NM_003640.5(ELP1):c.1008A>G (p.Leu336=)
NM_003640.5(ELP1):c.1017C>T (p.Ser339=)
NM_003640.5(ELP1):c.1020C>T (p.Thr340=)
NM_003640.5(ELP1):c.1035G>A (p.Lys345=)
NM_003640.5(ELP1):c.1047G>T (p.Leu349=)
NM_003640.5(ELP1):c.1072C>A (p.Arg358=)
NM_003640.5(ELP1):c.1077G>A (p.Leu359=)
NM_003640.5(ELP1):c.1083T>C (p.Val361=)
NM_003640.5(ELP1):c.1086C>T (p.Leu362=) rs765911613
NM_003640.5(ELP1):c.1095C>A (p.Gly365=)
NM_003640.5(ELP1):c.1107C>G (p.Leu369=)
NM_003640.5(ELP1):c.1113T>C (p.Tyr371=)
NM_003640.5(ELP1):c.1128G>C (p.Thr376=) rs781087704
NM_003640.5(ELP1):c.1128G>T (p.Thr376=) rs781087704
NM_003640.5(ELP1):c.1137G>A (p.Arg379=)
NM_003640.5(ELP1):c.1140C>T (p.Ser380=) rs771575205
NM_003640.5(ELP1):c.1155A>G (p.Ser385=)
NM_003640.5(ELP1):c.1161C>T (p.Asp387=)
NM_003640.5(ELP1):c.1170T>C (p.Asn390=)
NM_003640.5(ELP1):c.117T>C (p.His39=) rs2132052817
NM_003640.5(ELP1):c.1189+16G>A
NM_003640.5(ELP1):c.1189+16G>C
NM_003640.5(ELP1):c.1189+20G>A rs999307275
NM_003640.5(ELP1):c.1189+7T>C rs2132016301
NM_003640.5(ELP1):c.1190-12T>C
NM_003640.5(ELP1):c.1190-14_1190-11del
NM_003640.5(ELP1):c.1190-6C>T rs1340978905
NM_003640.5(ELP1):c.1190-8C>T
NM_003640.5(ELP1):c.1190-9T>A
NM_003640.5(ELP1):c.1197G>A (p.Val399=)
NM_003640.5(ELP1):c.1206A>G (p.Thr402=) rs2132014080
NM_003640.5(ELP1):c.1215G>T (p.Arg405=)
NM_003640.5(ELP1):c.1224G>C (p.Val408=)
NM_003640.5(ELP1):c.1236C>T (p.Pro412=)
NM_003640.5(ELP1):c.1242C>T (p.Cys414=) rs1233980811
NM_003640.5(ELP1):c.1272G>T (p.Val424=)
NM_003640.5(ELP1):c.1281C>T (p.Val427=) rs2132013769
NM_003640.5(ELP1):c.1293A>G (p.Ala431=)
NM_003640.5(ELP1):c.1296C>T (p.His432=)
NM_003640.5(ELP1):c.12G>C (p.Leu4=)
NM_003640.5(ELP1):c.1326A>G (p.Leu442=)
NM_003640.5(ELP1):c.1332C>T (p.Ala444=)
NM_003640.5(ELP1):c.1344T>C (p.Ile448=)
NM_003640.5(ELP1):c.1353T>C (p.Tyr451=)
NM_003640.5(ELP1):c.135C>T (p.Asp45=)
NM_003640.5(ELP1):c.1360+10A>G rs1587907182
NM_003640.5(ELP1):c.1360+15T>C
NM_003640.5(ELP1):c.1360+15T>G
NM_003640.5(ELP1):c.1360+20C>T
NM_003640.5(ELP1):c.1360+8A>G
NM_003640.5(ELP1):c.1360+9dup rs2132013416
NM_003640.5(ELP1):c.1361-10T>C rs2132007961
NM_003640.5(ELP1):c.1361-15A>G
NM_003640.5(ELP1):c.1361-17G>A
NM_003640.5(ELP1):c.1371A>G (p.Pro457=) rs1390004137
NM_003640.5(ELP1):c.1371A>T (p.Pro457=) rs1390004137
NM_003640.5(ELP1):c.1377T>C (p.Ala459=)
NM_003640.5(ELP1):c.1380C>T (p.Asp460=)
NM_003640.5(ELP1):c.1383T>C (p.Pro461=)
NM_003640.5(ELP1):c.1416A>G (p.Gly472=) rs1587904647
NM_003640.5(ELP1):c.144A>G (p.Ser48=)
NM_003640.5(ELP1):c.1460+11A>T
NM_003640.5(ELP1):c.1460+13T>G
NM_003640.5(ELP1):c.1460+17C>A
NM_003640.5(ELP1):c.1460+17C>G
NM_003640.5(ELP1):c.1460+17C>T
NM_003640.5(ELP1):c.1460+19T>C
NM_003640.5(ELP1):c.1460+8C>G
NM_003640.5(ELP1):c.1460+9T>A rs760949924
NM_003640.5(ELP1):c.1461-11A>G
NM_003640.5(ELP1):c.1461-6C>T rs2132003743
NM_003640.5(ELP1):c.1461-7A>G rs762657303
NM_003640.5(ELP1):c.1464C>T (p.Ile488=)
NM_003640.5(ELP1):c.1467G>A (p.Gln489=)
NM_003640.5(ELP1):c.150+10T>C
NM_003640.5(ELP1):c.150+13T>C
NM_003640.5(ELP1):c.150+14G>A
NM_003640.5(ELP1):c.150+8A>C rs1306503405
NM_003640.5(ELP1):c.1500G>A (p.Pro500=) rs749837963
NM_003640.5(ELP1):c.1506A>G (p.Lys502=)
NM_003640.5(ELP1):c.151-14T>C
NM_003640.5(ELP1):c.151-2del rs1439727159
NM_003640.5(ELP1):c.151-9T>C rs747310144
NM_003640.5(ELP1):c.1515T>G (p.Leu505=)
NM_003640.5(ELP1):c.1527T>C (p.Ile509=)
NM_003640.5(ELP1):c.1539C>G (p.Val513=)
NM_003640.5(ELP1):c.1539C>T (p.Val513=) rs765163631
NM_003640.5(ELP1):c.1548T>C (p.Ala516=)
NM_003640.5(ELP1):c.1551A>C (p.Val517=)
NM_003640.5(ELP1):c.1557C>T (p.His519=) rs764067957
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
NM_003640.5(ELP1):c.1566C>T (p.Phe522=)
NM_003640.5(ELP1):c.1569C>T (p.Ser523=) rs768796350
NM_003640.5(ELP1):c.1581C>G (p.Val527=)
NM_003640.5(ELP1):c.1587C>T (p.His529=)
NM_003640.5(ELP1):c.15A>G (p.Lys5=)
NM_003640.5(ELP1):c.1623G>A (p.Glu541=) rs1670127805
NM_003640.5(ELP1):c.1626T>C (p.His542=)
NM_003640.5(ELP1):c.1629A>G (p.Gly543=) rs954539305
NM_003640.5(ELP1):c.1632G>A (p.Gln544=)
NM_003640.5(ELP1):c.1643+10T>A
NM_003640.5(ELP1):c.1643+14T>C
NM_003640.5(ELP1):c.1643+16C>T
NM_003640.5(ELP1):c.1643+18del rs2132003038
NM_003640.5(ELP1):c.1643+7C>T rs1231114175
NM_003640.5(ELP1):c.1643+9G>A
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.1644-15C>G
NM_003640.5(ELP1):c.1644-16T>C
NM_003640.5(ELP1):c.1644-16del
NM_003640.5(ELP1):c.1644-20C>T
NM_003640.5(ELP1):c.1644-20_1644-17del
NM_003640.5(ELP1):c.1644-5G>A rs747025041
NM_003640.5(ELP1):c.1644-5G>T rs747025041
NM_003640.5(ELP1):c.1644-9T>C
NM_003640.5(ELP1):c.1647A>G (p.Ser549=)
NM_003640.5(ELP1):c.1650T>C (p.Ser550=)
NM_003640.5(ELP1):c.1656G>T (p.Ala552=) rs200535861
NM_003640.5(ELP1):c.165T>C (p.Val55=) rs2132050199
NM_003640.5(ELP1):c.165T>G (p.Val55=)
NM_003640.5(ELP1):c.1680A>G (p.Leu560=)
NM_003640.5(ELP1):c.1683T>C (p.Cys561=) rs2131996867
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1707A>G (p.Val569=)
NM_003640.5(ELP1):c.1722T>C (p.Ala574=) rs2131996768
NM_003640.5(ELP1):c.1737T>C (p.Phe579=) rs2131996743
NM_003640.5(ELP1):c.1740G>A (p.Lys580=)
NM_003640.5(ELP1):c.1750+16T>G
NM_003640.5(ELP1):c.1750+19G>A
NM_003640.5(ELP1):c.1750+9C>A
NM_003640.5(ELP1):c.1750+9C>G rs1828896199
NM_003640.5(ELP1):c.1751-10A>C
NM_003640.5(ELP1):c.1751-15C>T
NM_003640.5(ELP1):c.1751-16T>C
NM_003640.5(ELP1):c.1773A>G (p.Lys591=)
NM_003640.5(ELP1):c.1776A>G (p.Pro592=)
NM_003640.5(ELP1):c.1788T>C (p.Ser596=)
NM_003640.5(ELP1):c.1791T>C (p.Gly597=)
NM_003640.5(ELP1):c.1800T>C (p.Pro600=)
NM_003640.5(ELP1):c.1821C>T (p.Cys607=)
NM_003640.5(ELP1):c.1836G>A (p.Leu612=)
NM_003640.5(ELP1):c.1854+11A>G
NM_003640.5(ELP1):c.1854+12C>T
NM_003640.5(ELP1):c.1854+19G>A
NM_003640.5(ELP1):c.1854+7G>A
NM_003640.5(ELP1):c.1854+7G>C rs2131994977
NM_003640.5(ELP1):c.1855-18A>C
NM_003640.5(ELP1):c.1855-18A>T
NM_003640.5(ELP1):c.1855-4G>C rs1262458155
NM_003640.5(ELP1):c.1870C>T (p.Leu624=)
NM_003640.5(ELP1):c.1872G>A (p.Leu624=)
NM_003640.5(ELP1):c.1881G>A (p.Arg627=)
NM_003640.5(ELP1):c.1893C>T (p.Phe631=) rs1038922476
NM_003640.5(ELP1):c.189C>G (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1908+19G>T
NM_003640.5(ELP1):c.1908+9G>T
NM_003640.5(ELP1):c.1909-10T>C rs2131992149
NM_003640.5(ELP1):c.1909-14G>A rs2131992163
NM_003640.5(ELP1):c.1909-14G>T
NM_003640.5(ELP1):c.1909-17C>T
NM_003640.5(ELP1):c.1909-7C>T rs2131992129
NM_003640.5(ELP1):c.1909-8T>C rs2131992137
NM_003640.5(ELP1):c.1909-9C>T rs2131992144
NM_003640.5(ELP1):c.1929A>G (p.Ser643=)
NM_003640.5(ELP1):c.1935A>G (p.Ala645=) rs2131992030
NM_003640.5(ELP1):c.1938A>T (p.Val646=) rs750906847
NM_003640.5(ELP1):c.1953A>G (p.Leu651=)
NM_003640.5(ELP1):c.1962A>G (p.Thr654=) rs2131991951
NM_003640.5(ELP1):c.1971C>T (p.Ser657=) rs1000043423
NM_003640.5(ELP1):c.1989T>C (p.Phe663=)
NM_003640.5(ELP1):c.1995G>A (p.Leu665=)
NM_003640.5(ELP1):c.2004T>C (p.Ala668=)
NM_003640.5(ELP1):c.2007A>G (p.Ser669=) rs1828801329
NM_003640.5(ELP1):c.2014+10C>A rs1271477038
NM_003640.5(ELP1):c.2014+10C>T
NM_003640.5(ELP1):c.2014+11A>G
NM_003640.5(ELP1):c.2014+12A>G
NM_003640.5(ELP1):c.2014+12A>T
NM_003640.5(ELP1):c.2014+13T>C
NM_003640.5(ELP1):c.2014+14G>C
NM_003640.5(ELP1):c.2014+19A>G
NM_003640.5(ELP1):c.2014+75C>A rs2275631
NM_003640.5(ELP1):c.2014+8T>G rs2131991758
NM_003640.5(ELP1):c.2014+9T>C rs2131991753
NM_003640.5(ELP1):c.2015-10GT[2]
NM_003640.5(ELP1):c.2015-11G>C
NM_003640.5(ELP1):c.2017T>C (p.Leu673=) rs1182348530
NM_003640.5(ELP1):c.2019A>G (p.Leu673=) rs2131988824
NM_003640.5(ELP1):c.2025C>A (p.Ala675=) rs200532312
NM_003640.5(ELP1):c.2025C>G (p.Ala675=)
NM_003640.5(ELP1):c.2031G>A (p.Leu677=) rs1315300646
NM_003640.5(ELP1):c.2034C>T (p.Ser678=) rs2131988767
NM_003640.5(ELP1):c.2052T>C (p.His684=)
NM_003640.5(ELP1):c.2055G>A (p.Gly685=)
NM_003640.5(ELP1):c.2058A>G (p.Glu686=)
NM_003640.5(ELP1):c.2065C>A (p.Arg689=) rs201390288
NM_003640.5(ELP1):c.2070A>G (p.Lys690=) rs2131988616
NM_003640.5(ELP1):c.2079G>A (p.Arg693=)
NM_003640.5(ELP1):c.2088G>A (p.Arg696=)
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.210C>A (p.Arg70=)
NM_003640.5(ELP1):c.210C>T (p.Arg70=) rs768826752
NM_003640.5(ELP1):c.2115A>C (p.Thr705=) rs2131988404
NM_003640.5(ELP1):c.2124A>G (p.Val708=)
NM_003640.5(ELP1):c.2130+10T>G
NM_003640.5(ELP1):c.2130+16A>G
NM_003640.5(ELP1):c.2130+18A>T
NM_003640.5(ELP1):c.2130+20A>C
NM_003640.5(ELP1):c.2130+9G>T rs2131988347
NM_003640.5(ELP1):c.2131-19C>T
NM_003640.5(ELP1):c.2131-20A>G
NM_003640.5(ELP1):c.2131-6T>C
NM_003640.5(ELP1):c.2131-8T>C
NM_003640.5(ELP1):c.2151A>G (p.Glu717=)
NM_003640.5(ELP1):c.2176T>C (p.Leu726=) rs2131987533
NM_003640.5(ELP1):c.2197T>C (p.Leu733=)
NM_003640.5(ELP1):c.2199G>A (p.Leu733=)
NM_003640.5(ELP1):c.219T>C (p.Gly73=) rs1482293693
NM_003640.5(ELP1):c.219T>G (p.Gly73=) rs1482293693
NM_003640.5(ELP1):c.2204+10A>G rs960701293
NM_003640.5(ELP1):c.2204+13G>A
NM_003640.5(ELP1):c.2204+14T>C
NM_003640.5(ELP1):c.2204+18G>A
NM_003640.5(ELP1):c.2204+7G>A rs1480239099
NM_003640.5(ELP1):c.2204+8C>G
NM_003640.5(ELP1):c.2205-12G>A
NM_003640.5(ELP1):c.2205-4A>G
NM_003640.5(ELP1):c.2205-9T>C
NM_003640.5(ELP1):c.2220G>A (p.Glu740=) rs2131985204
NM_003640.5(ELP1):c.2223A>G (p.Ala741=)
NM_003640.5(ELP1):c.2232C>T (p.Cys744=)
NM_003640.5(ELP1):c.2256C>G (p.Leu752=) rs748119170
NM_003640.5(ELP1):c.2262G>A (p.Leu754=)
NM_003640.5(ELP1):c.2277C>T (p.Asn759=)
NM_003640.5(ELP1):c.2283+10T>C rs966574953
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2283+17T>A
NM_003640.5(ELP1):c.2284-11T>C
NM_003640.5(ELP1):c.2284-12T>C
NM_003640.5(ELP1):c.2284-14C>T
NM_003640.5(ELP1):c.2284-17T>C
NM_003640.5(ELP1):c.2284-19T>G
NM_003640.5(ELP1):c.2284-4G>A
NM_003640.5(ELP1):c.2284-4G>C rs1240982391
NM_003640.5(ELP1):c.2284-5G>T
NM_003640.5(ELP1):c.2284-9T>C rs746925432
NM_003640.5(ELP1):c.2322A>T (p.Ile774=) rs1427912191
NM_003640.5(ELP1):c.2328T>C (p.Ser776=) rs754322219
NM_003640.5(ELP1):c.2340T>C (p.Ile780=) rs2131984565
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.2363+14A>G rs2131984488
NM_003640.5(ELP1):c.2363+18T>G
NM_003640.5(ELP1):c.2363+20del
NM_003640.5(ELP1):c.2364-10C>G
NM_003640.5(ELP1):c.2364-17T>C
NM_003640.5(ELP1):c.2364-18A>G
NM_003640.5(ELP1):c.2364-4T>C rs2131982261
NM_003640.5(ELP1):c.2376C>T (p.Val792=)
NM_003640.5(ELP1):c.2379G>A (p.Thr793=) rs1158825223
NM_003640.5(ELP1):c.2385C>T (p.Thr795=) rs1587891555
NM_003640.5(ELP1):c.2391C>T (p.Tyr797=)
NM_003640.5(ELP1):c.2394T>G (p.Pro798=) rs138819925
NM_003640.5(ELP1):c.2397A>C (p.Ala799=)
NM_003640.5(ELP1):c.2397A>G (p.Ala799=) rs2131982046
NM_003640.5(ELP1):c.2406C>G (p.Thr802=)
NM_003640.5(ELP1):c.2412T>C (p.Ser804=)
NM_003640.5(ELP1):c.2415C>T (p.Val805=) rs2131981981
NM_003640.5(ELP1):c.2424C>T (p.Ser808=) rs1227586609
NM_003640.5(ELP1):c.2427G>A (p.Arg809=)
NM_003640.5(ELP1):c.2433T>C (p.Pro811=) rs1361966261
NM_003640.5(ELP1):c.2445A>G (p.Lys815=)
NM_003640.5(ELP1):c.2457C>G (p.Val819=)
NM_003640.5(ELP1):c.2457C>T (p.Val819=) rs2131981786
NM_003640.5(ELP1):c.2466T>G (p.Ala822=) rs1299382058
NM_003640.5(ELP1):c.2475A>G (p.Ala825=)
NM_003640.5(ELP1):c.249G>C (p.Val83=)
NM_003640.5(ELP1):c.249G>T (p.Val83=)
NM_003640.5(ELP1):c.24G>A (p.Arg8=)
NM_003640.5(ELP1):c.2501+7A>G
NM_003640.5(ELP1):c.2502-5C>T
NM_003640.5(ELP1):c.2502-6C>T rs2131981328
NM_003640.5(ELP1):c.2502-9T>C rs2131981338
NM_003640.5(ELP1):c.2505C>T (p.Tyr835=) rs1564084140
NM_003640.5(ELP1):c.2508C>T (p.Cys836=)
NM_003640.5(ELP1):c.2511A>G (p.Leu837=)
NM_003640.5(ELP1):c.2523A>G (p.Thr841=) rs1587891082
NM_003640.5(ELP1):c.2532A>G (p.Val844=)
NM_003640.5(ELP1):c.2544C>G (p.Thr848=) rs568514698
NM_003640.5(ELP1):c.2544C>T (p.Thr848=) rs568514698
NM_003640.5(ELP1):c.2568A>G (p.Gln856=)
NM_003640.5(ELP1):c.2574A>T (p.Val858=)
NM_003640.5(ELP1):c.2587+11G>A
NM_003640.5(ELP1):c.2587+11G>T
NM_003640.5(ELP1):c.2587+16C>T
NM_003640.5(ELP1):c.2587+17A>G
NM_003640.5(ELP1):c.2587+18G>A
NM_003640.5(ELP1):c.2587+20G>A
NM_003640.5(ELP1):c.2587+8T>C
NM_003640.5(ELP1):c.2588-11_2588-10insAC rs1587890642
NM_003640.5(ELP1):c.2588-17T>A
NM_003640.5(ELP1):c.2588-5G>A rs749793495
NM_003640.5(ELP1):c.2588-6T>C rs1350078150
NM_003640.5(ELP1):c.2588-8A>G rs2131980380
NM_003640.5(ELP1):c.2588-8A>T rs2131980380
NM_003640.5(ELP1):c.2588-9C>T
NM_003640.5(ELP1):c.2595T>G (p.Ala865=) rs1302575693
NM_003640.5(ELP1):c.2610T>C (p.Asp870=) rs2131980289
NM_003640.5(ELP1):c.2628G>A (p.Glu876=) rs1222355789
NM_003640.5(ELP1):c.2640T>C (p.Tyr880=) rs180790273
NM_003640.5(ELP1):c.2649T>C (p.His883=) rs2131980207
NM_003640.5(ELP1):c.2652G>A (p.Leu884=)
NM_003640.5(ELP1):c.2658T>C (p.Asp886=)
NM_003640.5(ELP1):c.2664T>C (p.Asn888=) rs2131980150
NM_003640.5(ELP1):c.2670A>G (p.Leu890=)
NM_003640.5(ELP1):c.2682T>A (p.Ser894=) rs1450438662
NM_003640.5(ELP1):c.2688C>G (p.Gly896=) rs2131980110
NM_003640.5(ELP1):c.2688C>T (p.Gly896=)
NM_003640.5(ELP1):c.2691C>T (p.Thr897=)
NM_003640.5(ELP1):c.2697C>T (p.Asp899=)
NM_003640.5(ELP1):c.2700T>C (p.Phe900=) rs2131980100
NM_003640.5(ELP1):c.2709C>T (p.Val903=)
NM_003640.5(ELP1):c.2727G>A (p.Lys909=) rs2131980049
NM_003640.5(ELP1):c.2736+12T>C
NM_003640.5(ELP1):c.2736+8G>C
NM_003640.5(ELP1):c.2737-10A>C rs2131975523
NM_003640.5(ELP1):c.2737-15T>G
NM_003640.5(ELP1):c.2737-17A>G
NM_003640.5(ELP1):c.2737-18C>T
NM_003640.5(ELP1):c.2737-20C>G
NM_003640.5(ELP1):c.2737-8T>A rs2131975517
NM_003640.5(ELP1):c.2737-9T>A rs778622576
NM_003640.5(ELP1):c.276C>T (p.Val92=) rs2132049929
NM_003640.5(ELP1):c.2772T>A (p.Leu924=) rs754622407
NM_003640.5(ELP1):c.2787T>C (p.Thr929=) rs1564081993
NM_003640.5(ELP1):c.2793T>C (p.Tyr931=)
NM_003640.5(ELP1):c.27C>G (p.Thr9=) rs963698427
NM_003640.5(ELP1):c.2811C>T (p.Asp937=) rs1439801646
NM_003640.5(ELP1):c.2817C>T (p.Tyr939=)
NM_003640.5(ELP1):c.2818T>C (p.Leu940=) rs1587887904
NM_003640.5(ELP1):c.2824C>A (p.Arg942=) rs761911009
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2829T>C (p.Tyr943=) rs2131975190
NM_003640.5(ELP1):c.282C>G (p.Leu94=)
NM_003640.5(ELP1):c.282C>T (p.Leu94=)
NM_003640.5(ELP1):c.2832A>G (p.Glu944=) rs2131975176
NM_003640.5(ELP1):c.2844C>A (p.Gly948=)
NM_003640.5(ELP1):c.2844C>T (p.Gly948=)
NM_003640.5(ELP1):c.2850C>T (p.Leu950=)
NM_003640.5(ELP1):c.2860+16A>C
NM_003640.5(ELP1):c.2860+242A>G rs141502202
NM_003640.5(ELP1):c.2860+7G>A rs1247714394
NM_003640.5(ELP1):c.2860+7G>C rs1247714394
NM_003640.5(ELP1):c.2860+7G>T
NM_003640.5(ELP1):c.2860+8T>A
NM_003640.5(ELP1):c.2860+8T>C
NM_003640.5(ELP1):c.2860+8dup rs2131975087
NM_003640.5(ELP1):c.2861-15A>G
NM_003640.5(ELP1):c.2861-16A>G
NM_003640.5(ELP1):c.2861-8del
NM_003640.5(ELP1):c.28C>T (p.Leu10=) rs2132053050
NM_003640.5(ELP1):c.2901T>C (p.Asp967=) rs2131973415
NM_003640.5(ELP1):c.2904A>G (p.Lys968=) rs2131973405
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.2910G>A (p.Leu970=)
NM_003640.5(ELP1):c.2913T>C (p.Tyr971=) rs1312848493
NM_003640.5(ELP1):c.2922T>C (p.Ala974=) rs1828403034
NM_003640.5(ELP1):c.2925G>A (p.Leu975=) rs1828402699
NM_003640.5(ELP1):c.2925G>C (p.Leu975=)
NM_003640.5(ELP1):c.2928G>A (p.Lys976=)
NM_003640.5(ELP1):c.2931A>G (p.Leu977=) rs1587886832
NM_003640.5(ELP1):c.2943C>T (p.Ser981=) rs1013466379
NM_003640.5(ELP1):c.2949A>G (p.Gln983=) rs2131973252
NM_003640.5(ELP1):c.2958+14G>T
NM_003640.5(ELP1):c.2958+18A>G
NM_003640.5(ELP1):c.2958+19T>A rs775117814
NM_003640.5(ELP1):c.2958+7G>A rs2131973199
NM_003640.5(ELP1):c.2959-10C>T
NM_003640.5(ELP1):c.2959-20T>C
NM_003640.5(ELP1):c.2970T>C (p.Ile990=)
NM_003640.5(ELP1):c.2976T>C (p.Tyr992=) rs1587885173
NM_003640.5(ELP1):c.297A>T (p.Thr99=)
NM_003640.5(ELP1):c.2985C>T (p.His995=)
NM_003640.5(ELP1):c.2988G>A (p.Leu996=) rs1254678537
NM_003640.5(ELP1):c.2997G>A (p.Glu999=) rs1288718353
NM_003640.5(ELP1):c.3015G>T (p.Ala1005=)
NM_003640.5(ELP1):c.3018G>A (p.Gly1006=) rs2131970094
NM_003640.5(ELP1):c.3021C>T (p.Leu1007=) rs755469058
NM_003640.5(ELP1):c.303+10A>C rs1587926781
NM_003640.5(ELP1):c.303+11G>T
NM_003640.5(ELP1):c.303+12A>G
NM_003640.5(ELP1):c.303+15C>G
NM_003640.5(ELP1):c.303+16C>T
NM_003640.5(ELP1):c.303+17A>C
NM_003640.5(ELP1):c.303+7G>A
NM_003640.5(ELP1):c.3030C>G (p.Ala1010=)
NM_003640.5(ELP1):c.304-11C>G
NM_003640.5(ELP1):c.304-11del
NM_003640.5(ELP1):c.304-9C>T rs538870297
NM_003640.5(ELP1):c.304-9_304-8del rs769049998
NM_003640.5(ELP1):c.3051A>G (p.Lys1017=)
NM_003640.5(ELP1):c.3054T>A (p.Ala1018=)
NM_003640.5(ELP1):c.3057C>G (p.Leu1019=)
NM_003640.5(ELP1):c.3057C>T (p.Leu1019=) rs781537201
NM_003640.5(ELP1):c.3067C>T (p.Leu1023=)
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069G>T (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3072A>C (p.Thr1024=)
NM_003640.5(ELP1):c.3075T>C (p.Cys1025=)
NM_003640.5(ELP1):c.3087G>A (p.Lys1029=) rs757486866
NM_003640.5(ELP1):c.3093C>G (p.Ala1031=) rs1587884867
NM_003640.5(ELP1):c.3105A>G (p.Ala1035=)
NM_003640.5(ELP1):c.3108C>A (p.Ala1036=)
NM_003640.5(ELP1):c.3120T>C (p.Phe1040=) rs762300112
NM_003640.5(ELP1):c.3133C>T (p.Leu1045=)
NM_003640.5(ELP1):c.3141C>T (p.Gly1047=)
NM_003640.5(ELP1):c.3160+12C>A
NM_003640.5(ELP1):c.3161-4A>G
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=) rs758321016
NM_003640.5(ELP1):c.3195G>C (p.Ala1065=)
NM_003640.5(ELP1):c.3195G>T (p.Ala1065=) rs758321016
NM_003640.5(ELP1):c.3222+16C>T
NM_003640.5(ELP1):c.3222+17C>A
NM_003640.5(ELP1):c.3222+17C>T
NM_003640.5(ELP1):c.3222+8C>T rs1159708225
NM_003640.5(ELP1):c.3223-15C>G
NM_003640.5(ELP1):c.3223-18T>G
NM_003640.5(ELP1):c.3223-5G>A rs2118947473
NM_003640.5(ELP1):c.3223-5G>T
NM_003640.5(ELP1):c.3228T>C (p.Tyr1076=)
NM_003640.5(ELP1):c.3237T>G (p.Ala1079=) rs2118947424
NM_003640.5(ELP1):c.3240G>T (p.Val1080=)
NM_003640.5(ELP1):c.3246G>A (p.Leu1082=)
NM_003640.5(ELP1):c.3247C>T (p.Leu1083=) rs1416245963
NM_003640.5(ELP1):c.3252A>G (p.Leu1084=) rs1474997133
NM_003640.5(ELP1):c.3255A>G (p.Glu1085=) rs2118947292
NM_003640.5(ELP1):c.3277T>C (p.Leu1093=) rs2118947177
NM_003640.5(ELP1):c.3280A>C (p.Arg1094=)
NM_003640.5(ELP1):c.3285+11T>G
NM_003640.5(ELP1):c.3285+15A>G
NM_003640.5(ELP1):c.3285+19C>T
NM_003640.5(ELP1):c.3286-14G>T
NM_003640.5(ELP1):c.3286-16G>A
NM_003640.5(ELP1):c.3286-17del
NM_003640.5(ELP1):c.3286-20T>C
NM_003640.5(ELP1):c.3304C>T (p.Leu1102=) rs2118946145
NM_003640.5(ELP1):c.3321C>A (p.Thr1107=)
NM_003640.5(ELP1):c.3321C>G (p.Thr1107=)
NM_003640.5(ELP1):c.3330G>A (p.Lys1110=) rs1353763056
NM_003640.5(ELP1):c.3336C>T (p.Ser1112=) rs776561246
NM_003640.5(ELP1):c.3346+19A>G
NM_003640.5(ELP1):c.3347-10G>T rs2118941197
NM_003640.5(ELP1):c.3347-6C>T rs1587873316
NM_003640.5(ELP1):c.3348C>A (p.Ala1116=) rs2118941184
NM_003640.5(ELP1):c.3366A>G (p.Ala1122=)
NM_003640.5(ELP1):c.33G>A (p.Glu11=) rs2132053041
NM_003640.5(ELP1):c.3417G>A (p.Leu1139=) rs202080366
NM_003640.5(ELP1):c.3432C>A (p.Leu1144=) rs2118940780
NM_003640.5(ELP1):c.3438G>A (p.Glu1146=) rs931836170
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3457C>T (p.Leu1153=) rs1587873138
NM_003640.5(ELP1):c.3460+10_3460+24del rs1564072432
NM_003640.5(ELP1):c.3460+13G>C
NM_003640.5(ELP1):c.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3460+14T>C
NM_003640.5(ELP1):c.3460+15G>A
NM_003640.5(ELP1):c.3460+20C>A
NM_003640.5(ELP1):c.3460+4_3460+11dup
NM_003640.5(ELP1):c.3460+9C>T
NM_003640.5(ELP1):c.3461-13T>C
NM_003640.5(ELP1):c.3461-14T>C
NM_003640.5(ELP1):c.3461-16G>C
NM_003640.5(ELP1):c.3461-6T>C
NM_003640.5(ELP1):c.3461-7T>G
NM_003640.5(ELP1):c.3461-9C>T rs995554626
NM_003640.5(ELP1):c.3461-9_3461-7del
NM_003640.5(ELP1):c.3468G>A (p.Glu1156=) rs1236050758
NM_003640.5(ELP1):c.3474C>A (p.Pro1158=)
NM_003640.5(ELP1):c.3486G>A (p.Glu1162=) rs1179560945
NM_003640.5(ELP1):c.3489A>G (p.Ser1163=)
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=) rs1827834154
NM_003640.5(ELP1):c.3498C>T (p.Phe1166=) rs764005359
NM_003640.5(ELP1):c.3525C>T (p.Gly1175=) rs886288391
NM_003640.5(ELP1):c.3537T>C (p.Ser1179=) rs773617899
NM_003640.5(ELP1):c.3540C>A (p.Gly1180=)
NM_003640.5(ELP1):c.3561C>G (p.Ser1187=) rs781284578
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=) rs747272918
NM_003640.5(ELP1):c.3572+10A>G
NM_003640.5(ELP1):c.3572+11C>G
NM_003640.5(ELP1):c.3572+12A>G
NM_003640.5(ELP1):c.3572+12A>T rs1055164302
NM_003640.5(ELP1):c.3572+14dup
NM_003640.5(ELP1):c.3572+15G>A
NM_003640.5(ELP1):c.3572+19C>G
NM_003640.5(ELP1):c.3572+20A>G
NM_003640.5(ELP1):c.3573-10T>C
NM_003640.5(ELP1):c.3573-14_3573-13del
NM_003640.5(ELP1):c.3573-16G>A
NM_003640.5(ELP1):c.3573-20A>G
NM_003640.5(ELP1):c.3573-9T>C
NM_003640.5(ELP1):c.357T>C (p.Pro119=) rs761020794
NM_003640.5(ELP1):c.3592C>A (p.Arg1198=)
NM_003640.5(ELP1):c.3600G>C (p.Ala1200=)
NM_003640.5(ELP1):c.3604C>A (p.Arg1202=)
NM_003640.5(ELP1):c.3606G>A (p.Arg1202=)
NM_003640.5(ELP1):c.3606G>C (p.Arg1202=)
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3648G>C (p.Leu1216=)
NM_003640.5(ELP1):c.3651C>T (p.Ala1217=)
NM_003640.5(ELP1):c.3666G>T (p.Leu1222=) rs2118935925
NM_003640.5(ELP1):c.3669T>C (p.Ser1223=)
NM_003640.5(ELP1):c.3672A>G (p.Glu1224=) rs2118935891
NM_003640.5(ELP1):c.3675G>A (p.Val1225=)
NM_003640.5(ELP1):c.3678G>A (p.Val1226=) rs1207014363
NM_003640.5(ELP1):c.367C>T (p.Leu123=) rs2132045470
NM_003640.5(ELP1):c.3687T>G (p.Thr1229=) rs1301314034
NM_003640.5(ELP1):c.369G>T (p.Leu123=)
NM_003640.5(ELP1):c.3700+13T>G
NM_003640.5(ELP1):c.3700+18A>G
NM_003640.5(ELP1):c.3701-17A>C
NM_003640.5(ELP1):c.3701-18C>G
NM_003640.5(ELP1):c.3701-19T>G
NM_003640.5(ELP1):c.3701-4C>G rs2118934562
NM_003640.5(ELP1):c.3701-4C>T rs2118934562
NM_003640.5(ELP1):c.3701-6C>T rs148535504
NM_003640.5(ELP1):c.3705A>G (p.Glu1235=) rs574431100
NM_003640.5(ELP1):c.3708A>C (p.Val1236=) rs368761085
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=) rs1564070677
NM_003640.5(ELP1):c.3717T>C (p.Ile1239=)
NM_003640.5(ELP1):c.3726A>G (p.Val1242=)
NM_003640.5(ELP1):c.3732T>C (p.Phe1244=) rs2118934404
NM_003640.5(ELP1):c.3756A>G (p.Gly1252=)
NM_003640.5(ELP1):c.3762A>G (p.Glu1254=) rs2118934304
NM_003640.5(ELP1):c.3768G>A (p.Gln1256=) rs2118934270
NM_003640.5(ELP1):c.3771G>A (p.Lys1257=) rs2118934242
NM_003640.5(ELP1):c.3774C>T (p.Ala1258=) rs2118934221
NM_003640.5(ELP1):c.3792G>A (p.Gln1264=)
NM_003640.5(ELP1):c.3807A>G (p.Ser1269=) rs2118934095
NM_003640.5(ELP1):c.3825T>A (p.Thr1275=) rs1234173300
NM_003640.5(ELP1):c.3828T>C (p.Leu1276=)
NM_003640.5(ELP1):c.3831T>C (p.Thr1277=)
NM_003640.5(ELP1):c.3846A>T (p.Ser1282=)
NM_003640.5(ELP1):c.3849T>C (p.Ala1283=) rs2118933916
NM_003640.5(ELP1):c.385+10T>A rs990666217
NM_003640.5(ELP1):c.385+13C>A
NM_003640.5(ELP1):c.385+14T>C
NM_003640.5(ELP1):c.385+15G>C
NM_003640.5(ELP1):c.385+8del rs2132045394
NM_003640.5(ELP1):c.3852C>A (p.Thr1284=)
NM_003640.5(ELP1):c.3852C>T (p.Thr1284=)
NM_003640.5(ELP1):c.3855+12C>T
NM_003640.5(ELP1):c.3855+13del
NM_003640.5(ELP1):c.3855+16G>A
NM_003640.5(ELP1):c.3855+17A>T
NM_003640.5(ELP1):c.3855+19G>T rs113767921
NM_003640.5(ELP1):c.3855+8_3855+9del
NM_003640.5(ELP1):c.3856-13A>G
NM_003640.5(ELP1):c.3856-14dup rs1554737879
NM_003640.5(ELP1):c.3856-18A>G
NM_003640.5(ELP1):c.3856-20A>G
NM_003640.5(ELP1):c.386-12T>C
NM_003640.5(ELP1):c.386-15_386-12del
NM_003640.5(ELP1):c.386-17G>A
NM_003640.5(ELP1):c.386-5C>G
NM_003640.5(ELP1):c.3867C>T (p.Pro1289=)
NM_003640.5(ELP1):c.3870T>C (p.Asn1290=)
NM_003640.5(ELP1):c.3876T>A (p.Thr1292=)
NM_003640.5(ELP1):c.3894A>G (p.Ala1298=) rs1827644596
NM_003640.5(ELP1):c.3897T>G (p.Ser1299=)
NM_003640.5(ELP1):c.3900T>C (p.Tyr1300=) rs1425768979
NM_003640.5(ELP1):c.3931+16C>T
NM_003640.5(ELP1):c.3931+17A>C
NM_003640.5(ELP1):c.3931+17A>G
NM_003640.5(ELP1):c.3931+20del rs758104586
NM_003640.5(ELP1):c.3932-14T>C
NM_003640.5(ELP1):c.3932-4T>C rs2118907255
NM_003640.5(ELP1):c.3932-7C>G
NM_003640.5(ELP1):c.3932-7C>T rs1474178691
NM_003640.5(ELP1):c.3945T>C (p.Phe1315=)
NM_003640.5(ELP1):c.3951A>T (p.Pro1317=) rs1212162839
NM_003640.5(ELP1):c.3960C>T (p.Ile1320=) rs1827342714
NM_003640.5(ELP1):c.396C>T (p.Thr132=)
NM_003640.5(ELP1):c.3972C>G (p.Thr1324=) rs1296938074
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=) rs1235352918
NM_003640.5(ELP1):c.3984G>A (p.Leu1328=) rs2118907092
NM_003640.5(ELP1):c.3988C>T (p.Leu1330=) rs2118907072
NM_003640.5(ELP1):c.3996C>T (p.Asp1332=) rs2118907045
NM_003640.5(ELP1):c.432G>A (p.Leu144=) rs1456280404
NM_003640.5(ELP1):c.432G>C (p.Leu144=) rs1456280404
NM_003640.5(ELP1):c.432G>T (p.Leu144=)
NM_003640.5(ELP1):c.438G>A (p.Gln146=) rs2132043832
NM_003640.5(ELP1):c.466+10G>A rs2132043675
NM_003640.5(ELP1):c.466+10G>C
NM_003640.5(ELP1):c.466+11C>G
NM_003640.5(ELP1):c.466+13T>C
NM_003640.5(ELP1):c.466+20A>G
NM_003640.5(ELP1):c.466+8T>A
NM_003640.5(ELP1):c.466+8T>C
NM_003640.5(ELP1):c.467-12A>T rs1300230302
NM_003640.5(ELP1):c.467-4G>A
NM_003640.5(ELP1):c.477C>T (p.Ile159=) rs2132037572
NM_003640.5(ELP1):c.486A>C (p.Gly162=) rs2132037525
NM_003640.5(ELP1):c.486A>T (p.Gly162=)
NM_003640.5(ELP1):c.48A>G (p.Gln16=)
NM_003640.5(ELP1):c.4C>A (p.Arg2=) rs926177767
NM_003640.5(ELP1):c.504A>G (p.Thr168=) rs1485371118
NM_003640.5(ELP1):c.552+10G>A rs2132037326
NM_003640.5(ELP1):c.552+14G>A
NM_003640.5(ELP1):c.552+19A>T
NM_003640.5(ELP1):c.552+20T>C
NM_003640.5(ELP1):c.552+9G>A rs2132037328
NM_003640.5(ELP1):c.553-18G>A
NM_003640.5(ELP1):c.553-221del rs879836091
NM_003640.5(ELP1):c.553-4_553-3del rs757409808
NM_003640.5(ELP1):c.553-6T>C
NM_003640.5(ELP1):c.553-8C>T
NM_003640.5(ELP1):c.553-9C>G rs371793321
NM_003640.5(ELP1):c.553-9C>T rs371793321
NM_003640.5(ELP1):c.561T>C (p.Ser187=) rs2132031543
NM_003640.5(ELP1):c.561T>G (p.Ser187=)
NM_003640.5(ELP1):c.564T>A (p.Ala188=)
NM_003640.5(ELP1):c.564T>C (p.Ala188=)
NM_003640.5(ELP1):c.570C>A (p.Pro190=)
NM_003640.5(ELP1):c.57G>A (p.Gly19=)
NM_003640.5(ELP1):c.582T>C (p.His194=)
NM_003640.5(ELP1):c.585A>G (p.Arg195=) rs2132031451
NM_003640.5(ELP1):c.588A>G (p.Pro196=) rs146875913
NM_003640.5(ELP1):c.591A>G (p.Gln197=) rs1377727570
NM_003640.5(ELP1):c.594T>A (p.Val198=) rs916026192
NM_003640.5(ELP1):c.597C>G (p.Thr199=)
NM_003640.5(ELP1):c.597C>T (p.Thr199=)
NM_003640.5(ELP1):c.621T>C (p.Phe207=) rs2132031316
NM_003640.5(ELP1):c.63T>C (p.Pro21=)
NM_003640.5(ELP1):c.649+11A>G rs2132031229
NM_003640.5(ELP1):c.649+13A>T
NM_003640.5(ELP1):c.649+15T>A
NM_003640.5(ELP1):c.649+16G>A
NM_003640.5(ELP1):c.649+16G>T rs142961763
NM_003640.5(ELP1):c.650-10T>G rs2132030666
NM_003640.5(ELP1):c.650-11C>T
NM_003640.5(ELP1):c.650-12A>G
NM_003640.5(ELP1):c.650-5CA[3] rs1394478274
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.650-7C>G
NM_003640.5(ELP1):c.650-9C>G
NM_003640.5(ELP1):c.66G>A (p.Gln22=) rs2132052950
NM_003640.5(ELP1):c.687T>G (p.Ala229=) rs2132030477
NM_003640.5(ELP1):c.699C>G (p.Thr233=)
NM_003640.5(ELP1):c.69C>T (p.Cys23=) rs1587928500
NM_003640.5(ELP1):c.705G>A (p.Glu235=)
NM_003640.5(ELP1):c.714A>G (p.Ala238=) rs2132030418
NM_003640.5(ELP1):c.730C>T (p.Leu244=) rs200836328
NM_003640.5(ELP1):c.740+11G>T
NM_003640.5(ELP1):c.740+12A>T
NM_003640.5(ELP1):c.741-19A>G
NM_003640.5(ELP1):c.741-5_741-4dup rs2132028216
NM_003640.5(ELP1):c.744C>T (p.Pro248=) rs777540385
NM_003640.5(ELP1):c.750C>A (p.Gly250=) rs2132028153
NM_003640.5(ELP1):c.75T>C (p.Ser25=) rs2132052925
NM_003640.5(ELP1):c.768A>C (p.Thr256=)
NM_003640.5(ELP1):c.768A>T (p.Thr256=) rs985459923
NM_003640.5(ELP1):c.777A>G (p.Lys259=)
NM_003640.5(ELP1):c.786G>A (p.Gln262=)
NM_003640.5(ELP1):c.789G>A (p.Gln263=)
NM_003640.5(ELP1):c.78C>T (p.Leu26=) rs1164162179
NM_003640.5(ELP1):c.792T>C (p.Asp264=) rs2132027995
NM_003640.5(ELP1):c.79C>A (p.Arg27=) rs868073099
NM_003640.5(ELP1):c.816A>C (p.Gly272=) rs201336920
NM_003640.5(ELP1):c.819C>G (p.Leu273=)
NM_003640.5(ELP1):c.822T>C (p.Leu274=) rs1207966755
NM_003640.5(ELP1):c.822T>G (p.Leu274=) rs1207966755
NM_003640.5(ELP1):c.825T>C (p.His275=) rs2132027893
NM_003640.5(ELP1):c.837A>G (p.Thr279=)
NM_003640.5(ELP1):c.840T>C (p.Leu280=)
NM_003640.5(ELP1):c.864+17G>A
NM_003640.5(ELP1):c.865-11T>A
NM_003640.5(ELP1):c.865-15T>A
NM_003640.5(ELP1):c.865-17T>C
NM_003640.5(ELP1):c.865-19G>C
NM_003640.5(ELP1):c.865-7dup
NM_003640.5(ELP1):c.865-8C>A rs2132025319
NM_003640.5(ELP1):c.865-8C>T
NM_003640.5(ELP1):c.867A>C (p.Val289=)
NM_003640.5(ELP1):c.894C>A (p.Ser298=) rs1428327725
NM_003640.5(ELP1):c.900G>T (p.Val300=)
NM_003640.5(ELP1):c.906A>G (p.Ala302=)
NM_003640.5(ELP1):c.915G>A (p.Leu305=)
NM_003640.5(ELP1):c.921C>T (p.Asp307=) rs2132025155
NM_003640.5(ELP1):c.942C>T (p.Ser314=) rs761625150
NM_003640.5(ELP1):c.958+10C>T rs2132025006
NM_003640.5(ELP1):c.958+12G>A
NM_003640.5(ELP1):c.958+15G>A
NM_003640.5(ELP1):c.958+16T>C
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_003640.5(ELP1):c.959-11T>A
NM_003640.5(ELP1):c.959-16T>A
NM_003640.5(ELP1):c.959-20C>T
NM_003640.5(ELP1):c.959-225dup rs199537662
NM_003640.5(ELP1):c.959-260del rs554750757
NM_003640.5(ELP1):c.959-5T>C rs2132017118
NM_003640.5(ELP1):c.959-9C>T
NM_003640.5(ELP1):c.963G>A (p.Gln321=) rs2132017094
NM_003640.5(ELP1):c.96G>C (p.Thr32=) rs748202041
NM_003640.5(ELP1):c.972T>C (p.Thr324=) rs2132017066
NM_003640.5(ELP1):c.984T>C (p.Tyr328=)
NM_003640.5(ELP1):c.993T>C (p.Tyr331=)
NM_003640.5(ELP1):c.996C>T (p.Leu332=) rs2132017008

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