ClinVar Miner

List of variants in gene ELP1 studied for neurocristopathy

Included ClinVar conditions (167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 665
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HGVS dbSNP gnomAD frequency
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.958+56A>T rs1772046 0.56907
NM_003640.5(ELP1):c.*1351C>A rs4978371 0.41826
NM_003640.5(ELP1):c.3856-54C>A rs2027433 0.41736
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.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.1460+72A>G rs2304779 0.21723
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.1750+124C>T rs17792422 0.12773
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.*1071G>A rs41305457 0.11134
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.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
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.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
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.934G>A (p.Glu312Lys) rs1140064 0.02197
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.*392A>G rs10979577 0.01747
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
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.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.*1214C>T rs143906434 0.00555
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_003640.5(ELP1):c.*902C>T rs139728295 0.00347
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
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.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.*1412T>A rs117081559 0.00029
NM_003640.3(ELP1):c.-530C>T 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.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.3931+1G>T rs143674809 0.00012
NM_003640.5(ELP1):c.*1281T>C rs189897190 0.00011
NM_003640.5(ELP1):c.*569T>C rs928660237 0.00011
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.3573-7C>G rs370571926 0.00011
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003640.5(ELP1):c.3708A>G (p.Val1236=) rs368761085 0.00010
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=) rs149038322 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.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.-31G>C rs375962780 0.00006
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946 0.00006
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.1914G>A (p.Ala638=) rs142096497 0.00006
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met) rs201596987 0.00006
NM_003640.5(ELP1):c.2588-6T>G rs1350078150 0.00006
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 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.80G>A (p.Arg27Gln) rs375666523 0.00006
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) rs754831171 0.00005
NM_003640.5(ELP1):c.3223-16C>G rs372907186 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 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.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.1973A>G (p.His658Arg) rs372151936 0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377 0.00004
NM_003640.5(ELP1):c.304-5C>T rs370384351 0.00004
NM_003640.5(ELP1):c.3045C>T (p.His1015=) rs772697433 0.00004
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 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.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp) rs374238430 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 0.00004
NM_003640.5(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.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.270A>T (p.Gly90=) rs200640674 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.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs200941360 0.00003
NM_003640.5(ELP1):c.3285+6A>T rs1465325866 0.00003
NM_003640.5(ELP1):c.3346+6G>C rs774179813 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046 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.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.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.1768A>G (p.Ile590Val) rs369856286 0.00002
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp) rs200397694 0.00002
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp) rs771647322 0.00002
NM_003640.5(ELP1):c.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.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.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.2948A>T (p.Gln983Leu) rs749200669 0.00002
NM_003640.5(ELP1):c.2958+10A>T rs768709875 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys) rs868601119 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala) rs147069577 0.00002
NM_003640.5(ELP1):c.3222+4A>T rs367771963 0.00002
NM_003640.5(ELP1):c.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.3791A>G (p.Gln1264Arg) rs201888676 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
NM_003640.5(ELP1):c.*1054T>C rs577931217 0.00001
NM_003640.5(ELP1):c.*1194C>T rs1827297908 0.00001
NM_003640.5(ELP1):c.*1511T>C rs758269307 0.00001
NM_003640.5(ELP1):c.-156G>A rs886063350 0.00001
NM_003640.5(ELP1):c.-183C>T rs1437319593 0.00001
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626 0.00001
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu) rs187183483 0.00001
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326 0.00001
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser) rs771123534 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.1214G>A (p.Arg405Gln) rs369242781 0.00001
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu) rs375957332 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.1320T>A (p.Ala440=) rs745616203 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.1499C>T (p.Pro500Leu) rs779307491 0.00001
NM_003640.5(ELP1):c.151-10T>C rs768610434 0.00001
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078 0.00001
NM_003640.5(ELP1):c.1584T>G (p.Ile528Met) rs745586570 0.00001
NM_003640.5(ELP1):c.1786T>C (p.Ser596Pro) rs749510215 0.00001
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347 0.00001
NM_003640.5(ELP1):c.1819T>C (p.Cys607Arg) rs1428249476 0.00001
NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys) rs1198964450 0.00001
NM_003640.5(ELP1):c.1854+3A>G rs773379221 0.00001
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser) rs370377909 0.00001
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn) rs202085601 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.1938A>G (p.Val646=) rs750906847 0.00001
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) rs764320309 0.00001
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) rs762636526 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2031G>C (p.Leu677=) rs1315300646 0.00001
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly) rs756120509 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658 0.00001
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe) rs1828702034 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 0.00001
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233 0.00001
NM_003640.5(ELP1):c.2295A>T (p.Gly765=) rs137874743 0.00001
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2346G>T (p.Leu782Phe) rs1182966138 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.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.2501A>G (p.Lys834Arg) rs764026138 0.00001
NM_003640.5(ELP1):c.2502-13C>T rs138510668 0.00001
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val) rs779097269 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 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.2707G>A (p.Val903Ile) rs1828552741 0.00001
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917 0.00001
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 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.2910G>T (p.Leu970Phe) rs146198104 0.00001
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003640.5(ELP1):c.303+11G>A rs549703822 0.00001
NM_003640.5(ELP1):c.303+3A>G rs766433871 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.304-10T>A rs1417685633 0.00001
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr) rs770540843 0.00001
NM_003640.5(ELP1):c.3043C>T (p.His1015Tyr) rs762687399 0.00001
NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu) rs372822046 0.00001
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp) rs778943416 0.00001
NM_003640.5(ELP1):c.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.322G>A (p.Val108Ile) rs192047457 0.00001
NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val) rs752344797 0.00001
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) rs761896714 0.00001
NM_003640.5(ELP1):c.334A>G (p.Ile112Val) rs1451932418 0.00001
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His) rs143580972 0.00001
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys) rs377679012 0.00001
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg) rs1032686725 0.00001
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076 0.00001
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.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.3714T>C (p.His1238=) rs749975442 0.00001
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) rs756928248 0.00001
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala) rs200634033 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 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.3886A>G (p.Ile1296Val) rs762773957 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.3961A>T (p.Asn1321Tyr) rs367795801 0.00001
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser) rs370034421 0.00001
NM_003640.5(ELP1):c.427A>G (p.Ile143Val) rs571422569 0.00001
NM_003640.5(ELP1):c.43A>G (p.Ile15Val) rs1250977761 0.00001
NM_003640.5(ELP1):c.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.656G>A (p.Arg219Gln) rs749382362 0.00001
NM_003640.5(ELP1):c.667G>T (p.Val223Leu) rs769746039 0.00001
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys) rs1274927283 0.00001
NM_003640.5(ELP1):c.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.768A>G (p.Thr256=) rs985459923 0.00001
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser) rs371587578 0.00001
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 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.958+11T>G rs201309418 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
NC_000009.11:g.(?_111693257)_(111693446_?)dup
NC_000009.12:g.(?_108869105)_(108903679_?)del
NC_000009.12:g.(?_108869115)_(108901681_?)del
NM_003640.3(ELP1):c.-532C>G rs1251331564
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.1027A>T (p.Lys343Ter)
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg) rs772819713
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe) rs1587908989
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr) rs749865081
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs571143526
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)
NM_003640.5(ELP1):c.119G>T (p.Gly40Val) rs1829988830
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003640.5(ELP1):c.1278A>G (p.Gln426=) rs372511606
NM_003640.5(ELP1):c.131T>C (p.Val44Ala) rs1829988347
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr) rs147575152
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr) rs1829195961
NM_003640.5(ELP1):c.1360+10A>G rs1587907182
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1361-3C>A rs1829095177
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln) rs1829093766
NM_003640.5(ELP1):c.139G>A (p.Val47Ile) rs151209640
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp) rs1829023404
NM_003640.5(ELP1):c.150+1G>A rs1554703831
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.151-9T>G rs747310144
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
NM_003640.5(ELP1):c.1586A>G (p.His529Arg) rs1829018937
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly) rs1829015512
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly) rs139891858
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu) rs376515761
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile) rs199555804
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) rs199555804
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys) rs1828896752
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1750+9C>G rs1828896199
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys) rs1828896602
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu) rs1828814518
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+2T>A rs1554696648
NM_003640.5(ELP1):c.1909-2A>G
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) rs377020122
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
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.1955T>A (p.Leu652Ter)
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.1975A>G (p.Thr659Ala) rs200117008
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro) rs1587896793
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
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.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
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.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr) rs1587893028
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2336A>G (p.His779Arg) rs1431007165
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.2372A>C (p.Asp791Ala) rs532550445
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs546587836
NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg) rs201596987
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu) rs370041985
NM_003640.5(ELP1):c.2405C>G (p.Thr802Ser) rs1828592002
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn) rs1445493033
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp) rs1587926883
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2528A>G (p.His843Arg) rs1828577961
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
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+2T>G rs1554695299
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
NM_003640.5(ELP1):c.2677del (p.His893fs)
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys) rs200590656
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.2779del (p.Met927fs)
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
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.2894_2901del (p.Ile965fs)
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.2911_2913delinsA (p.Tyr971fs)
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
NM_003640.5(ELP1):c.2936C>T (p.Ser979Leu) rs2131973288
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.2958+3A>G rs1828401309
NM_003640.5(ELP1):c.297A>G (p.Thr99=) rs1829937351
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu) rs1828328786
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr) rs144959233
NM_003640.5(ELP1):c.304-2A>G rs757972943
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.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
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.313G>T (p.Val105Phe) rs764767995
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) rs972475636
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
NM_003640.5(ELP1):c.3322A>G (p.Asn1108Asp) rs2118946035
NM_003640.5(ELP1):c.3326T>C (p.Val1109Ala) rs1827936975
NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu) rs763262745
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) rs906880093
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)
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.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3460+1G>A rs1478450302
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe) rs144301886
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=) rs1827834154
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.3521G>A (p.Ser1174Asn) rs143008686
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=) rs747272918
NM_003640.5(ELP1):c.3572+12A>T rs1055164302
NM_003640.5(ELP1):c.3572+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.3593G>C (p.Arg1198Pro) rs200322331
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr) rs1827793180
NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del) rs1306291143
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=) rs1564070677
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly) rs760084617
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.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.3855+2T>A
NM_003640.5(ELP1):c.3855+2T>G rs2118933859
NM_003640.5(ELP1):c.3855+9T>G rs533673443
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3931+3_3931+6del rs1827641020
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.3956del (p.Lys1319fs) rs2118907171
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.452A>T (p.Asp151Val) rs1829829317
NM_003640.5(ELP1):c.461G>C (p.Gly154Ala) rs2132043743
NM_003640.5(ELP1):c.466+5G>C rs745386940
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
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.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.553-4_553-3del rs757409808
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) rs771715592
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.581A>G (p.His194Arg) rs1682473914
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) rs367552387
NM_003640.5(ELP1):c.605G>A (p.Gly202Glu)
NM_003640.5(ELP1):c.608A>T (p.Asp203Val) rs1829558657
NM_003640.5(ELP1):c.626T>C (p.Val209Ala) rs1039834492
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.650-6G>A rs571466270
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.740+1G>T
NM_003640.5(ELP1):c.741-4T>G rs1829498906
NM_003640.5(ELP1):c.755T>G (p.Leu252Trp) rs1829498017
NM_003640.5(ELP1):c.78C>T (p.Leu26=) rs1164162179
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.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.5(ELP1):c.824A>G (p.His275Arg) rs1564100993
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_003640.5(ELP1):c.864+6T>C rs1829486746
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe) rs1288706972
NM_003640.5(ELP1):c.89_90del (p.Gln30fs)
NM_003640.5(ELP1):c.954_958+7del rs2132025021
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_003640.5(ELP1):c.959-1G>A rs2132017099
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)

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