NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003640.5(ELP1):c.1461-1G>A
|
rs539544212
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901
|
0.00001
|
NM_003640.5(ELP1):c.2958+1G>A
|
rs1239081703
|
0.00001
|
NM_003640.5(ELP1):c.3161-2A>G
|
rs749548287
|
0.00001
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
NM_003640.5(ELP1):c.552+1G>T
|
rs765572951
|
0.00001
|
NC_000009.11:g.(?_111662092)_(111663971_?)dup
|
|
|
NC_000009.12:g.(?_108869105)_(108903679_?)del
|
|
|
NC_000009.12:g.(?_108869115)_(108901681_?)del
|
|
|
NM_003640.5(ELP1):c.1190-1G>C
|
rs2132014128
|
|
NM_003640.5(ELP1):c.1190-2A>G
|
rs2132014132
|
|
NM_003640.5(ELP1):c.1360+1G>T
|
rs1201626345
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.1460+1G>A
|
rs1564093439
|
|
NM_003640.5(ELP1):c.151-1G>A
|
rs1554703613
|
|
NM_003640.5(ELP1):c.151-2A>C
|
|
|
NM_003640.5(ELP1):c.1643+1G>A
|
|
|
NM_003640.5(ELP1):c.1643+2T>C
|
|
|
NM_003640.5(ELP1):c.1644-1G>T
|
rs1451406050
|
|
NM_003640.5(ELP1):c.1644-2A>C
|
rs1413906605
|
|
NM_003640.5(ELP1):c.1750+1G>A
|
rs770668926
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.1908+1G>A
|
|
|
NM_003640.5(ELP1):c.1909-2A>C
|
rs2131992124
|
|
NM_003640.5(ELP1):c.2015-2A>G
|
rs1828729991
|
|
NM_003640.5(ELP1):c.2205-1G>C
|
rs1554695846
|
|
NM_003640.5(ELP1):c.2501+1G>A
|
rs2131981589
|
|
NM_003640.5(ELP1):c.2501+2T>C
|
|
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299
|
|
NM_003640.5(ELP1):c.2588-2A>G
|
|
|
NM_003640.5(ELP1):c.2736+1G>A
|
|
|
NM_003640.5(ELP1):c.2736+1G>C
|
|
|
NM_003640.5(ELP1):c.2860+1G>A
|
|
|
NM_003640.5(ELP1):c.2860+1G>C
|
|
|
NM_003640.5(ELP1):c.2860+1_2860+7del
|
rs2131975101
|
|
NM_003640.5(ELP1):c.2860_2860+1delinsTA
|
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703
|
|
NM_003640.5(ELP1):c.303+1G>A
|
|
|
NM_003640.5(ELP1):c.304-2A>C
|
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3160+1G>T
|
rs2131969608
|
|
NM_003640.5(ELP1):c.3285+1G>C
|
rs1287123881
|
|
NM_003640.5(ELP1):c.3285+2T>C
|
rs1554692181
|
|
NM_003640.5(ELP1):c.3286-1G>A
|
|
|
NM_003640.5(ELP1):c.3286-1G>C
|
|
|
NM_003640.5(ELP1):c.3286-1G>T
|
rs1159691474
|
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999
|
|
NM_003640.5(ELP1):c.3460+1G>A
|
rs1478450302
|
|
NM_003640.5(ELP1):c.3461-2A>G
|
|
|
NM_003640.5(ELP1):c.3573-1G>A
|
rs2118936334
|
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572
|
|
NM_003640.5(ELP1):c.3701-2A>G
|
|
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061
|
|
NM_003640.5(ELP1):c.3855+1G>T
|
rs1827764134
|
|
NM_003640.5(ELP1):c.3855+2T>G
|
rs2118933859
|
|
NM_003640.5(ELP1):c.3856-1G>A
|
|
|
NM_003640.5(ELP1):c.466+2T>G
|
|
|
NM_003640.5(ELP1):c.552+2T>A
|
rs1554702142
|
|
NM_003640.5(ELP1):c.553-1G>A
|
|
|
NM_003640.5(ELP1):c.649+1G>A
|
rs1564102412
|
|
NM_003640.5(ELP1):c.741-2A>C
|
|
|
NM_003640.5(ELP1):c.954_958+7del
|
rs2132025021
|
|
NM_003640.5(ELP1):c.958+1G>A
|
|
|
NM_003640.5(ELP1):c.959-1G>A
|
rs2132017099
|
|
NM_003640.5(ELP1):c.959-2A>C
|
|
|