NC_000009.12:g.(?_108869105)_(108903679_?)del
|
rs0 |
NC_000009.12:g.(?_108869115)_(108901681_?)del
|
rs0 |
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.1750+1G>T
|
rs770668926 |
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001 |
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.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.2087G>C (p.Arg696Pro)
|
rs137853022 |
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.2499dup (p.Lys834Ter)
|
rs767527819 |
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299 |
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.304-2A>G
|
rs757972943 |
NM_003640.5(ELP1):c.3285+2T>C
|
rs1554692181 |
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999 |
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995 |
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668 |
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644 |
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572 |
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061 |
NM_003640.5(ELP1):c.386-2A>C
|
rs1554702880 |
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809 |
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.641del (p.Pro214fs)
|
rs759412460 |
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099 |
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851 |