|
NC_000009.11:g.(?_111693257)_(111693446_?)dup
|
rs0 |
|
NC_000009.12:g.(?_108869105)_(108903679_?)del
|
rs0 |
|
NC_000009.12:g.(?_108869115)_(108901681_?)del
|
rs0 |
|
NC_000009.12:g.108934131G>A
|
rs0 |
|
NC_000009.12:g.108934151A>C
|
rs0 |
|
NC_000009.12:g.108934338G>A
|
rs0 |
|
NC_000009.12:g.108934340G>C
|
rs0 |
|
NM_003640.4(ELP1):c.-353C>A
|
rs886063351 |
|
NM_003640.4(ELP1):c.-403C>T
|
rs886063352 |
|
NM_003640.4(ELP1):c.-534delC
|
rs544672591 |
|
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)
|
rs750344128 |
|
NM_003640.5(ELP1):c.*103A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*1054T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*1062G>T
|
rs559551917 |
|
NM_003640.5(ELP1):c.*1071G>A
|
rs41305457 |
|
NM_003640.5(ELP1):c.*1124C>T
|
rs746907451 |
|
NM_003640.5(ELP1):c.*1191T>G
|
rs539404183 |
|
NM_003640.5(ELP1):c.*1194C>T
|
rs0 |
|
NM_003640.5(ELP1):c.*1196G>T
|
rs0 |
|
NM_003640.5(ELP1):c.*1214C>T
|
rs143906434 |
|
NM_003640.5(ELP1):c.*1240T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*1247T>C
|
rs76994656 |
|
NM_003640.5(ELP1):c.*1254C>A
|
rs879924643 |
|
NM_003640.5(ELP1):c.*1259C>G
|
rs13299652 |
|
NM_003640.5(ELP1):c.*1260C>T
|
rs13299651 |
|
NM_003640.5(ELP1):c.*1277T>G
|
rs537888003 |
|
NM_003640.5(ELP1):c.*1281T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*1291A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*1351C>A
|
rs4978371 |
|
NM_003640.5(ELP1):c.*1352A>G
|
rs886063344 |
|
NM_003640.5(ELP1):c.*1406A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*1412T>A
|
rs0 |
|
NM_003640.5(ELP1):c.*1428G>T
|
rs0 |
|
NM_003640.5(ELP1):c.*1429C>T
|
rs0 |
|
NM_003640.5(ELP1):c.*1489G>A
|
rs0 |
|
NM_003640.5(ELP1):c.*1494A>G
|
rs543323193 |
|
NM_003640.5(ELP1):c.*1511T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*1566A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*344A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*392A>G
|
rs10979577 |
|
NM_003640.5(ELP1):c.*502C>T
|
rs56305287 |
|
NM_003640.5(ELP1):c.*569T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*579A>G
|
rs0 |
|
NM_003640.5(ELP1):c.*636T>C
|
rs0 |
|
NM_003640.5(ELP1):c.*705C>T
|
rs0 |
|
NM_003640.5(ELP1):c.*769T>A
|
rs0 |
|
NM_003640.5(ELP1):c.*806A>C
|
rs0 |
|
NM_003640.5(ELP1):c.*82G>A
|
rs0 |
|
NM_003640.5(ELP1):c.*838C>T
|
rs0 |
|
NM_003640.5(ELP1):c.*861T>G
|
rs74671462 |
|
NM_003640.5(ELP1):c.*902C>T
|
rs0 |
|
NM_003640.5(ELP1):c.-115A>T
|
rs0 |
|
NM_003640.5(ELP1):c.-126T>G
|
rs2275640 |
|
NM_003640.5(ELP1):c.-155A>G
|
rs117100816 |
|
NM_003640.5(ELP1):c.-155A>T
|
rs117100816 |
|
NM_003640.5(ELP1):c.-156G>A
|
rs886063350 |
|
NM_003640.5(ELP1):c.-158C>G
|
rs530824179 |
|
NM_003640.5(ELP1):c.-177C>T
|
rs138630440 |
|
NM_003640.5(ELP1):c.-179G>C
|
rs0 |
|
NM_003640.5(ELP1):c.-17G>A
|
rs199738099 |
|
NM_003640.5(ELP1):c.-183C>T
|
rs0 |
|
NM_003640.5(ELP1):c.-22G>T
|
rs0 |
|
NM_003640.5(ELP1):c.-242T>G
|
rs765585828 |
|
NM_003640.5(ELP1):c.-301C>G
|
rs2275641 |
|
NM_003640.5(ELP1):c.-31G>C
|
rs375962780 |
|
NM_003640.5(ELP1):c.-38A>G
|
rs0 |
|
NM_003640.5(ELP1):c.-45T>C
|
rs0 |
|
NM_003640.5(ELP1):c.-59_-56+15del
|
rs993537831 |
|
NM_003640.5(ELP1):c.-64G>A
|
rs575166769 |
|
NM_003640.5(ELP1):c.-71G>C
|
rs2275639 |
|
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg)
|
rs56053149 |
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs0 |
|
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)
|
rs748458910 |
|
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
|
rs1587908989 |
|
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile)
|
rs918763626 |
|
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
|
rs187183483 |
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484 |
|
NM_003640.5(ELP1):c.1075C>T (p.Leu359=)
|
rs2230789 |
|
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
|
rs774132326 |
|
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)
|
rs1564096412 |
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs0 |
|
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
|
rs766255360 |
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360 |
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs0 |
|
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)
|
rs776167946 |
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086 |
|
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser)
|
rs1273486554 |
|
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser)
|
rs0 |
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs0 |
|
NM_003640.5(ELP1):c.1189+1G>A
|
rs1554699327 |
|
NM_003640.5(ELP1):c.1190-5T>A
|
rs0 |
|
NM_003640.5(ELP1):c.119G>T (p.Gly40Val)
|
rs0 |
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788 |
|
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)
|
rs369242781 |
|
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu)
|
rs375957332 |
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359 |
|
NM_003640.5(ELP1):c.1251A>G (p.Gln417=)
|
rs763812233 |
|
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro)
|
rs1554699019 |
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951 |
|
NM_003640.5(ELP1):c.1278A>G (p.Gln426=)
|
rs0 |
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833 |
|
NM_003640.5(ELP1):c.1323T>C (p.Val441=)
|
rs0 |
|
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr)
|
rs0 |
|
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
|
rs0 |
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738 |
|
NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg)
|
rs0 |
|
NM_003640.5(ELP1):c.1386A>G (p.Thr462=)
|
rs0 |
|
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln)
|
rs0 |
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs0 |
|
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del)
|
rs746116617 |
|
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys)
|
rs764155403 |
|
NM_003640.5(ELP1):c.1460+3A>G
|
rs1564093432 |
|
NM_003640.5(ELP1):c.1461-1G>A
|
rs539544212 |
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212 |
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915 |
|
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)
|
rs0 |
|
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu)
|
rs779307491 |
|
NM_003640.5(ELP1):c.150+1G>A
|
rs1554703831 |
|
NM_003640.5(ELP1):c.150+3A>G
|
rs0 |
|
NM_003640.5(ELP1):c.151-10T>C
|
rs0 |
|
NM_003640.5(ELP1):c.151-1G>A
|
rs1554703613 |
|
NM_003640.5(ELP1):c.151-1G>T
|
rs1554703613 |
|
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly)
|
rs755282356 |
|
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
|
rs201706900 |
|
NM_003640.5(ELP1):c.1542C>T (p.Phe514=)
|
rs267602078 |
|
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)
|
rs143494120 |
|
NM_003640.5(ELP1):c.1563G>A (p.Glu521=)
|
rs969266362 |
|
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
|
rs766737737 |
|
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln)
|
rs838827 |
|
NM_003640.5(ELP1):c.1586A>G (p.His529Arg)
|
rs0 |
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143 |
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070 |
|
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly)
|
rs0 |
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349 |
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941 |
|
NM_003640.5(ELP1):c.1705_1707GTA[1] (p.Val570del)
|
rs1554697136 |
|
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly)
|
rs886063348 |
|
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val)
|
rs35455790 |
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309 |
|
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys)
|
rs0 |
|
NM_003640.5(ELP1):c.1750+1G>T
|
rs770668926 |
|
NM_003640.5(ELP1):c.1750+9C>G
|
rs0 |
|
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001 |
|
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)
|
rs35054425 |
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888 |
|
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln)
|
rs755988042 |
|
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)
|
rs886063347 |
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934 |
|
NM_003640.5(ELP1):c.1854+3A>G
|
rs773379221 |
|
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser)
|
rs0 |
|
NM_003640.5(ELP1):c.1860T>C (p.Cys620=)
|
rs769936175 |
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257 |
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319 |
|
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu)
|
rs0 |
|
NM_003640.5(ELP1):c.189C>T (p.Leu63=)
|
rs2230786 |
|
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.1911T>C (p.Val637=)
|
rs369645371 |
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs0 |
|
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys)
|
rs0 |
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122 |
|
NM_003640.5(ELP1):c.1926G>A (p.Thr642=)
|
rs10979605 |
|
NM_003640.5(ELP1):c.1938A>G (p.Val646=)
|
rs0 |
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs0 |
|
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del)
|
rs1554696595 |
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs0 |
|
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
|
rs764320309 |
|
NM_003640.5(ELP1):c.1965C>T (p.Thr655=)
|
rs2230791 |
|
NM_003640.5(ELP1):c.1973A>G (p.His658Arg)
|
rs372151936 |
|
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.2006C>A (p.Ser669Ter)
|
rs1587896788 |
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949 |
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557 |
|
NM_003640.5(ELP1):c.2014+1G>A
|
rs1554696574 |
|
NM_003640.5(ELP1):c.2025C>T (p.Ala675=)
|
rs200532312 |
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129 |
|
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
|
rs756120509 |
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093 |
|
NM_003640.5(ELP1):c.2052T>A (p.His684Gln)
|
rs1321906641 |
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288 |
|
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu)
|
rs761858315 |
|
NM_003640.5(ELP1):c.2076dup (p.Arg693fs)
|
rs763445509 |
|
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp)
|
rs0 |
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022 |
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311 |
|
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.2134C>T (p.Pro712Ser)
|
rs370772658 |
|
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)
|
rs0 |
|
NM_003640.5(ELP1):c.2158del (p.His720fs)
|
rs1057516865 |
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835 |
|
NM_003640.5(ELP1):c.2204+1G>A
|
rs1057517169 |
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171 |
|
NM_003640.5(ELP1):c.2205-1G>C
|
rs1554695846 |
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146 |
|
NM_003640.5(ELP1):c.2210T>C (p.Met737Thr)
|
rs0 |
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037 |
|
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu)
|
rs1564085701 |
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233 |
|
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)
|
rs182287137 |
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880 |
|
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)
|
rs2230792 |
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264 |
|
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.2325T>G (p.Asp775Glu)
|
rs757701039 |
|
NM_003640.5(ELP1):c.2336A>G (p.His779Arg)
|
rs1431007165 |
|
NM_003640.5(ELP1):c.235G>C (p.Asp79His)
|
rs1554703582 |
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554 |
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs0 |
|
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
|
rs201596987 |
|
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)
|
rs1358881100 |
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985 |
|
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
|
rs370041985 |
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs0 |
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847 |
|
NM_003640.5(ELP1):c.2439G>T (p.Gly813=)
|
rs0 |
|
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu)
|
rs2230793 |
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151 |
|
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met)
|
rs2230794 |
|
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu)
|
rs0 |
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs0 |
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819 |
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs0 |
|
NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg)
|
rs0 |
|
NM_003640.5(ELP1):c.2502-13C>T
|
rs0 |
|
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)
|
rs1564084140 |
|
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser)
|
rs879253977 |
|
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val)
|
rs0 |
|
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)
|
rs0 |
|
NM_003640.5(ELP1):c.2529T>C (p.His843=)
|
rs757233952 |
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599 |
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs0 |
|
NM_003640.5(ELP1):c.2587+14C>T
|
rs141670242 |
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299 |
|
NM_003640.5(ELP1):c.2588-6T>G
|
rs1350078150 |
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149 |
|
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
|
rs146958186 |
|
NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser)
|
rs0 |
|
NM_003640.5(ELP1):c.2707G>A (p.Val903Ile)
|
rs0 |
|
NM_003640.5(ELP1):c.270A>T (p.Gly90=)
|
rs200640674 |
|
NM_003640.5(ELP1):c.273C>T (p.Asp91=)
|
rs772231917 |
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712 |
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635 |
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097 |
|
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser)
|
rs1378971881 |
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635 |
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002 |
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269 |
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092 |
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807 |
|
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)
|
rs749052963 |
|
NM_003640.5(ELP1):c.2818T>C (p.Leu940=)
|
rs1587887904 |
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612 |
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191 |
|
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)
|
rs2230798 |
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901 |
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs0 |
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802 |
|
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe)
|
rs0 |
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs0 |
|
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)
|
rs749200669 |
|
NM_003640.5(ELP1):c.2958+10A>T
|
rs768709875 |
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703 |
|
NM_003640.5(ELP1):c.297A>G (p.Thr99=)
|
rs0 |
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs0 |
|
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)
|
rs1376166738 |
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431 |
|
NM_003640.5(ELP1):c.303+11G>A
|
rs0 |
|
NM_003640.5(ELP1):c.303+3A>G
|
rs766433871 |
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377 |
|
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)
|
rs2230795 |
|
NM_003640.5(ELP1):c.304-10T>A
|
rs0 |
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943 |
|
NM_003640.5(ELP1):c.304-5C>T
|
rs370384351 |
|
NM_003640.5(ELP1):c.304-7G>A
|
rs374063549 |
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs0 |
|
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.3079A>G (p.Asn1027Asp)
|
rs0 |
|
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>A (p.Cys104Ter)
|
rs1291760879 |
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs0 |
|
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)
|
rs0 |
|
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=)
|
rs1315617472 |
|
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
|
rs972475636 |
|
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)
|
rs140024352 |
|
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)
|
rs3204145 |
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755 |
|
NM_003640.5(ELP1):c.3223-16C>G
|
rs372907186 |
|
NM_003640.5(ELP1):c.322G>A (p.Val108Ile)
|
rs192047457 |
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203 |
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397 |
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs0 |
|
NM_003640.5(ELP1):c.3285+2T>C
|
rs1554692181 |
|
NM_003640.5(ELP1):c.3285+6A>T
|
rs1465325866 |
|
NM_003640.5(ELP1):c.3285+9C>T
|
rs2275495 |
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751 |
|
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
|
rs761896714 |
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999 |
|
NM_003640.5(ELP1):c.3346+6G>C
|
rs774179813 |
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706 |
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542 |
|
NM_003640.5(ELP1):c.334A>G (p.Ile112Val)
|
rs0 |
|
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)
|
rs1554691848 |
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245 |
|
NM_003640.5(ELP1):c.3368T>C (p.Phe1123Ser)
|
rs1587873285 |
|
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)
|
rs372499865 |
|
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys)
|
rs0 |
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058 |
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754 |
|
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)
|
rs886063346 |
|
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu)
|
rs1538660 |
|
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)
|
rs146956297 |
|
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
|
rs1032686725 |
|
NM_003640.5(ELP1):c.348T>C (p.Ser116=)
|
rs2230787 |
|
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=)
|
rs79596285 |
|
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe)
|
rs0 |
|
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=)
|
rs0 |
|
NM_003640.5(ELP1):c.349del (p.Trp117fs)
|
rs1587924458 |
|
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)
|
rs199617076 |
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335 |
|
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)
|
rs0 |
|
NM_003640.5(ELP1):c.3572+12A>T
|
rs0 |
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995 |
|
NM_003640.5(ELP1):c.3572+5G>C
|
rs773132143 |
|
NM_003640.5(ELP1):c.3572+5G>T
|
rs773132143 |
|
NM_003640.5(ELP1):c.3573-7C>G
|
rs370571926 |
|
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)
|
rs886063345 |
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668 |
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs0 |
|
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly)
|
rs879254229 |
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs0 |
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369 |
|
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)
|
rs1453695293 |
|
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)
|
rs0 |
|
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)
|
rs764936574 |
|
NM_003640.5(ELP1):c.3700+6T>G
|
rs761423880 |
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572 |
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504 |
|
NM_003640.5(ELP1):c.3714T>C (p.His1238=)
|
rs749975442 |
|
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly)
|
rs0 |
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046 |
|
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)
|
rs0 |
|
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)
|
rs1554691544 |
|
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)
|
rs199723919 |
|
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg)
|
rs201888676 |
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs0 |
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061 |
|
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
|
rs199813856 |
|
NM_003640.5(ELP1):c.386-2A>C
|
rs1554702880 |
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352 |
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202 |
|
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val)
|
rs0 |
|
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=)
|
rs772800681 |
|
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.3917C>T (p.Ser1306Leu)
|
rs780649768 |
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875 |
|
NM_003640.5(ELP1):c.3931+1G>A
|
rs143674809 |
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809 |
|
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.3949C>A (p.Pro1317Thr)
|
rs0 |
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724 |
|
NM_003640.5(ELP1):c.423G>A (p.Glu141=)
|
rs567960748 |
|
NM_003640.5(ELP1):c.441G>A (p.Gln147=)
|
rs2230788 |
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs0 |
|
NM_003640.5(ELP1):c.466+5G>C
|
rs0 |
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767 |
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768 |
|
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly)
|
rs758442235 |
|
NM_003640.5(ELP1):c.545T>A (p.Met182Lys)
|
rs10521092 |
|
NM_003640.5(ELP1):c.54del (p.Asn20fs)
|
rs1554703874 |
|
NM_003640.5(ELP1):c.552+1G>T
|
rs765572951 |
|
NM_003640.5(ELP1):c.552+2T>A
|
rs1554702142 |
|
NM_003640.5(ELP1):c.552+2dup
|
rs1554702145 |
|
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn)
|
rs0 |
|
NM_003640.5(ELP1):c.579C>T (p.Asp193=)
|
rs766231058 |
|
NM_003640.5(ELP1):c.593T>C (p.Val198Ala)
|
rs0 |
|
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.606G>T (p.Gly202=)
|
rs768309637 |
|
NM_003640.5(ELP1):c.608A>T (p.Asp203Val)
|
rs0 |
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734 |
|
NM_003640.5(ELP1):c.626T>C (p.Val209Ala)
|
rs0 |
|
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly)
|
rs541666513 |
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460 |
|
NM_003640.5(ELP1):c.649+12T>C
|
rs0 |
|
NM_003640.5(ELP1):c.649+3A>G
|
rs1554701323 |
|
NM_003640.5(ELP1):c.650-6G>A
|
rs571466270 |
|
NM_003640.5(ELP1):c.650-7C>T
|
rs368410371 |
|
NM_003640.5(ELP1):c.653C>T (p.Ala218Val)
|
rs0 |
|
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp)
|
rs0 |
|
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly)
|
rs0 |
|
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala)
|
rs1356812138 |
|
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
|
rs1274927283 |
|
NM_003640.5(ELP1):c.717A>C (p.Gly239=)
|
rs1333495798 |
|
NM_003640.5(ELP1):c.741-15dup
|
rs398102543 |
|
NM_003640.5(ELP1):c.741-4T>G
|
rs0 |
|
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)
|
rs17853166 |
|
NM_003640.5(ELP1):c.768A>G (p.Thr256=)
|
rs0 |
|
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
|
rs371587578 |
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099 |
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523 |
|
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)
|
rs1554700891 |
|
NM_003640.5(ELP1):c.819C>T (p.Leu273=)
|
rs12340246 |
|
NM_003640.5(ELP1):c.824A>G (p.His275Arg)
|
rs0 |
|
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu)
|
rs770755917 |
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000 |
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965 |
|
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe)
|
rs0 |
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285 |
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392 |
|
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)
|
rs1140064 |
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563 |
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889 |
|
NM_003640.5(ELP1):c.958+11T>G
|
rs0 |
|
NM_003640.5(ELP1):c.959-10T>C
|
rs144059169 |
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410 |
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916 |
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851 |