NC_000009.11:g.(?_111693257)_(111693446_?)dup


NM_003640.4(ELP1):c.353C>A

rs886063351 
NM_003640.4(ELP1):c.403C>T

rs886063352 
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)

rs750344128 
NM_003640.5(ELP1):c.*1062G>T

rs559551917 
NM_003640.5(ELP1):c.*1124C>T

rs746907451 
NM_003640.5(ELP1):c.*1191T>G

rs539404183 
NM_003640.5(ELP1):c.*1214C>T

rs143906434 
NM_003640.5(ELP1):c.*1247T>C

rs76994656 
NM_003640.5(ELP1):c.*1254C>A

rs879924643 
NM_003640.5(ELP1):c.*1277T>G

rs537888003 
NM_003640.5(ELP1):c.*1352A>G

rs886063344 
NM_003640.5(ELP1):c.*1494A>G

rs543323193 
NM_003640.5(ELP1):c.*502C>T

rs56305287 
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.242T>G

rs765585828 
NM_003640.5(ELP1):c.59_56+15del

rs993537831 
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)

rs748458910 
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)


NM_003640.5(ELP1):c.1050G>A (p.Met350Ile)

rs918763626 
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)


NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)

rs139091484 
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)


NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)

rs1564096412 
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)


NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)


NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser)

rs1273486554 
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val)

rs1554699340 
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)

rs369242781 
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.1309A>C (p.Asn437His)


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.1499C>T (p.Pro500Leu)

rs779307491 
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly)

rs755282356 
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)


NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)

rs143494120 
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)


NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)


NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)

rs749608070 
NM_003640.5(ELP1):c.169T>C (p.Leu57=)

rs886063349 
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.1758T>G (p.Pro586=)

rs35054425 
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)


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+3A>G


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.189C>T (p.Leu63=)

rs2230786 
NM_003640.5(ELP1):c.1911T>C (p.Val637=)

rs369645371 
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)

rs377020122 
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del)

rs1554696595 
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)


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.2008T>C (p.Phe670Leu)

rs376699949 
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)


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.2068A>G (p.Lys690Glu)

rs761858315 
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)


NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu)

rs1564085701 
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)


NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)

rs182287137 
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)


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)


NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu)

rs757701039 
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.2378C>T (p.Thr793Met)


NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)

rs1358881100 
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)


NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)


NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)


NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser)

rs879253977 
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)

rs10979599 
NM_003640.5(ELP1):c.2587+14C>T

rs141670242 
NM_003640.5(ELP1):c.25886T>G

rs1350078150 
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)

rs773218149 
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)


NM_003640.5(ELP1):c.270A>T (p.Gly90=)

rs200640674 
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)


NM_003640.5(ELP1):c.2799G>A (p.Arg933=)

rs367974002 
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)


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.2845C>T (p.His949Tyr)


NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)

rs749200669 
NM_003640.5(ELP1):c.2958+10A>T

rs768709875 
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+3A>G

rs766433871 
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)

rs368999377 
NM_003640.5(ELP1):c.3045C>T

rs370384351 
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn)

rs1554694121 
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)

rs1291760879 
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)

rs148548795 
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)


NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)

rs140024352 
NM_003640.5(ELP1):c.3222+14C>T

rs374787755 
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.3285+6A>T

rs1465325866 
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)


NM_003640.5(ELP1):c.3346+6G>C

rs774179813 
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)

rs1554691848 
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)

rs372499865 
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)

rs202080366 
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)


NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)

rs886063346 
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)

rs146956297 
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)


NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)

rs199617076 
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)


NM_003640.5(ELP1):c.3572+5G>C


NM_003640.5(ELP1):c.3572+5G>T


NM_003640.5(ELP1):c.35737C>G

rs370571926 
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)

rs886063345 
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)

rs1453695293 
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)

rs764936574 
NM_003640.5(ELP1):c.37016C>G

rs148535504 
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)

rs766517046 
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.3854C>T (p.Pro1285Leu)


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.3908A>G (p.Gln1303Arg)

rs1554737851 
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter)

rs780649768 
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)


NM_003640.5(ELP1):c.3931+14C>G

rs555520875 
NM_003640.5(ELP1):c.3931+1G>A

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.3977G>A (p.Trp1326Ter)

rs1554735724 
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.552+2dup

rs1554702145 
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)


NM_003640.5(ELP1):c.602G>C (p.Arg201Pro)

rs367552387 
NM_003640.5(ELP1):c.649+3A>G

rs1554701323 
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala)

rs1356812138 
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)


NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)

rs17853166 
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)


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.842C>T (p.Pro281Leu)

rs770755917 
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)


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.95915C>T

rs112114410 