NC_000009.11:g.(?_111631385)_(111665959_?)del


NC_000009.11:g.(?_111631395)_(111663961_?)del


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


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.1084C>T (p.Leu362Phe)

rs774132326 
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)

rs1564096412 
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.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.1251A>G (p.Gln417=)

rs763812233 
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)

rs201706900 
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)

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

rs766737737 
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)


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

rs749608070 
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)

rs369856286 
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)

rs886063347 
NM_003640.5(ELP1):c.1854+3A>G


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

rs377020122 
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)

rs764320309 
NM_003640.5(ELP1):c.1973A>G (p.His658Arg)

rs372151936 
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)


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

rs756120509 
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.2087G>C (p.Arg696Pro)

rs137853022 
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.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)

rs146338880 
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)

rs150202264 
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)


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

rs757701039 
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.2378C>T (p.Thr793Met)


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.2461G>A (p.Asp821Asn)

rs770590151 
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)

rs767527819 
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)

rs1564084140 
NM_003640.5(ELP1):c.25886T>G

rs1350078150 
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)

rs757852635 
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)

rs751179612 
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.2845C>T (p.His949Tyr)

rs201440191 
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)

rs749200669 
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.3126A>T (p.Lys1042Asn)

rs1554694121 
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.322G>A (p.Val108Ile)

rs192047457 
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)

rs61749203 
NM_003640.5(ELP1):c.3285+2T>C

rs1554692181 
NM_003640.5(ELP1):c.3285+6A>T

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

rs761896714 
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)

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


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


NM_003640.5(ELP1):c.349del (p.Trp117fs)


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

rs749668335 
NM_003640.5(ELP1):c.3572+1G>A


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

rs773132143 
NM_003640.5(ELP1):c.3572+5G>T

rs773132143 
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)

rs764936574 
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)

rs766517046 
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)

rs199813856 
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg)

rs1554737851 
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)

rs780649768 
NM_003640.5(ELP1):c.3931+1G>A

rs143674809 
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)

rs1554735745 
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.602G>A (p.Arg201Gln)


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.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.778C>T (p.Pro260Ser)


NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)

rs375666523 
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu)

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

rs777790000 