NM_003640.3(ELP1):c.59_56+15del19

rs993537831 
NM_003640.3(ELP1):c.2204+6T>C

rs111033171 
NM_003640.4(ELP1):c.1154del (p.Ser385Terfs)

rs774890086 
NM_003640.4(ELP1):c.1189+1G>A

rs1554699327 
NM_003640.4(ELP1):c.1360+1G>T

rs1201626345 
NM_003640.4(ELP1):c.14611G>A

rs539544212 
NM_003640.4(ELP1):c.14611G>T

rs539544212 
NM_003640.4(ELP1):c.14612A>G

rs866046915 
NM_003640.4(ELP1):c.1469_1470del (p.Phe490Terfs)

rs1554698037 
NM_003640.4(ELP1):c.147_150+1dup

rs1319053366 
NM_003640.4(ELP1):c.150+1G>A

rs1554703831 
NM_003640.4(ELP1):c.1511G>A

rs1554703613 
NM_003640.4(ELP1):c.1511G>T

rs1554703613 
NM_003640.4(ELP1):c.1542C>T (p.Phe514=)

rs267602078 
NM_003640.4(ELP1):c.1614G>C (p.Met538Ile)

rs749608070 
NM_003640.4(ELP1):c.169T>C (p.Leu57=)

rs886063349 
NM_003640.4(ELP1):c.1708_1710del (p.Val570del)

rs1554697136 
NM_003640.4(ELP1):c.1750+1G>T

rs770668926 
NM_003640.4(ELP1):c.17512A>T

rs1554697001 
NM_003640.4(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)

rs749959888 
NM_003640.4(ELP1):c.1854+1G>A

rs1554696934 
NM_003640.4(ELP1):c.1902_1903del (p.Ile635Terfs)

rs1554696650 
NM_003640.4(ELP1):c.1908+2T>A

rs1554696648 
NM_003640.4(ELP1):c.1944_1946del (p.Asp648del)

rs1554696595 
NM_003640.4(ELP1):c.1973A>G (p.His658Arg)

rs372151936 
NM_003640.4(ELP1):c.1982_1993del (p.Gln661_Cys664del)

rs1554696580 
NM_003640.4(ELP1):c.1A>T (p.Met1Leu)

rs1554703907 
NM_003640.4(ELP1):c.2014+1G>A

rs1554696574 
NM_003640.4(ELP1):c.2076dupG (p.Arg693Glufs)

rs763445509 
NM_003640.4(ELP1):c.2158delC (p.His720Ilefs)

rs1057516865 
NM_003640.4(ELP1):c.2204+1G>A

rs1057517169 
NM_003640.4(ELP1):c.22051G>C

rs1554695846 
NM_003640.4(ELP1):c.2308_2310del (p.Phe770del)

rs1554695751 
NM_003640.4(ELP1):c.2370A>G (p.Glu790=)

rs772114554 
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)

rs750344128 
NM_003640.4(ELP1):c.2398_2400dup (p.Pro800_Val801insPro)

rs1358881100 
NM_003640.4(ELP1):c.2587+2T>G

rs1554695299 
NM_003640.4(ELP1):c.2598C>T (p.Pro866=)

rs773218149 
NM_003640.4(ELP1):c.2817C>A (p.Tyr939Ter)

rs749052963 
NM_003640.4(ELP1):c.2860+2T>C

rs754348901 
NM_003640.4(ELP1):c.2958+1G>C

rs1239081703 
NM_003640.4(ELP1):c.2992_3003del (p.Gln998_Met1001del)

rs1376166738 
NM_003640.4(ELP1):c.3042A>G

rs757972943 
NM_003640.4(ELP1):c.322316C>G

rs372907186 
NM_003640.4(ELP1):c.3346+1G>A

rs760774999 
NM_003640.4(ELP1):c.3358_3360dup (p.Tyr1120_Met1121insTyr)

rs1554691848 
NM_003640.4(ELP1):c.3397C>T (p.Arg1133Cys)

rs372499865 
NM_003640.4(ELP1):c.3469G>A (p.Val1157Ile)

rs886063346 
NM_003640.4(ELP1):c.35737C>G

rs370571926 
NM_003640.4(ELP1):c.3590G>A (p.Arg1197His)

rs886063345 
NM_003640.4(ELP1):c.3592C>T (p.Arg1198Ter)

rs376078668 
NM_003640.4(ELP1):c.3622_3624del (p.Lys1208del)

rs1453695293 
NM_003640.4(ELP1):c.37011G>A

rs1554691572 
NM_003640.4(ELP1):c.37016C>G

rs148535504 
NM_003640.4(ELP1):c.3784dup (p.Thr1262Asnfs)

rs1554691544 
NM_003640.4(ELP1):c.385+1G>A

rs1554703061 
NM_003640.4(ELP1):c.3862A>C

rs1554702880 
NM_003640.4(ELP1):c.3917C>A (p.Ser1306Ter)

rs780649768 
NM_003640.4(ELP1):c.3931+14C>G

rs555520875 
NM_003640.4(ELP1):c.3931+1G>T

rs143674809 
NM_003640.4(ELP1):c.3937G>T (p.Glu1313Ter)

rs1554735745 
NM_003640.4(ELP1):c.3977G>A (p.Trp1326Ter)

rs1554735724 
NM_003640.4(ELP1):c.4C>T (p.Arg2Ter)

rs926177767 
NM_003640.4(ELP1):c.54del (p.Asn20Ilefs)

rs1554703874 
NM_003640.4(ELP1):c.552+1G>T

rs765572951 
NM_003640.4(ELP1):c.552+2T>A

rs1554702142 
NM_003640.4(ELP1):c.552+2dup

rs1554702145 
NM_003640.4(ELP1):c.641delC (p.Pro214Glnfs)

rs759412460 
NM_003640.4(ELP1):c.79C>T (p.Arg27Ter)

rs868073099 
NM_003640.4(ELP1):c.818_829del (p.Leu273_Gly276del)

rs1554700891 
NM_003640.4(ELP1):c.97del (p.Val33Cysfs)

rs1554703851 
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)

rs137853022 