|
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)
|
rs750344128 |
|
NM_003640.5(ELP1):c.-59_-56+15del
|
rs993537831 |
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086 |
|
NM_003640.5(ELP1):c.1189+1G>A
|
rs1554699327 |
|
NM_003640.5(ELP1):c.1360+1G>T
|
rs1201626345 |
|
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.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.1542C>T (p.Phe514=)
|
rs267602078 |
|
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.1750+1G>T
|
rs770668926 |
|
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001 |
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888 |
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934 |
|
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.1941_1943TGA[1] (p.Asp648del)
|
rs1554696595 |
|
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.2014+1G>A
|
rs1554696574 |
|
NM_003640.5(ELP1):c.2076dup (p.Arg693fs)
|
rs763445509 |
|
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.2308_2310del (p.Phe770del)
|
rs1554695751 |
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554 |
|
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)
|
rs1358881100 |
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819 |
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299 |
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149 |
|
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)
|
rs749052963 |
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901 |
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703 |
|
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)
|
rs1376166738 |
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943 |
|
NM_003640.5(ELP1):c.3223-16C>G
|
rs372907186 |
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999 |
|
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.3469G>A (p.Val1157Ile)
|
rs886063346 |
|
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.3622_3624del (p.Lys1208del)
|
rs1453695293 |
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644 |
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572 |
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504 |
|
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)
|
rs1554691544 |
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061 |
|
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+14C>G
|
rs555520875 |
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809 |
|
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.4C>T (p.Arg2Ter)
|
rs926177767 |
|
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.641del (p.Pro214fs)
|
rs759412460 |
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099 |
|
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)
|
rs1554700891 |
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851 |