NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00012
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
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.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901
|
0.00001
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003640.5(ELP1):c.552+1G>T
|
rs765572951
|
0.00001
|
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)
|
rs1317221906
|
0.00001
|
NC_000009.12:g.(?_108869105)_(108903679_?)del
|
|
|
NC_000009.12:g.(?_108869115)_(108901681_?)del
|
|
|
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)
|
|
|
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
|
|
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086
|
|
NM_003640.5(ELP1):c.1189+1G>A
|
rs1554699327
|
|
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)
|
|
|
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
|
|
|
NM_003640.5(ELP1):c.1360+1G>T
|
rs1201626345
|
|
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
|
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
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.1619_1620insT (p.Glu540fs)
|
|
|
NM_003640.5(ELP1):c.1750+1G>T
|
rs770668926
|
|
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001
|
|
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
|
|
|
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
|
|
|
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.1909-2A>G
|
|
|
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
|
|
|
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)
|
|
|
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.2281A>T (p.Lys761Ter)
|
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
|
|
|
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
|
|
|
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
|
|
|
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
|
|
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299
|
|
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
|
|
|
NM_003640.5(ELP1):c.2677del (p.His893fs)
|
|
|
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)
|
|
|
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
|
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.2779del (p.Met927fs)
|
|
|
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
|
|
|
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)
|
rs749052963
|
|
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)
|
|
|
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)
|
|
|
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
|
|
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
|
|
|
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
|
|
|
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
|
|
|
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
|
|
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999
|
|
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)
|
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
|
|
|
NM_003640.5(ELP1):c.3460+1G>A
|
rs1478450302
|
|
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_003640.5(ELP1):c.3510del (p.Ser1170fs)
|
|
|
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)
|
|
|
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
|
|
|
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
|
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
|
|
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572
|
|
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
|
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061
|
|
NM_003640.5(ELP1):c.3855+2T>A
|
|
|
NM_003640.5(ELP1):c.3855+2T>G
|
rs2118933859
|
|
NM_003640.5(ELP1):c.386-2A>C
|
rs1554702880
|
|
NM_003640.5(ELP1):c.3956del (p.Lys1319fs)
|
rs2118907171
|
|
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
|
|
|
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)
|
|
|
NM_003640.5(ELP1):c.54del (p.Asn20fs)
|
rs1554703874
|
|
NM_003640.5(ELP1):c.552+2T>A
|
rs1554702142
|
|
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)
|
|
|
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)
|
rs1829561209
|
|
NM_003640.5(ELP1):c.574del (p.Asp192fs)
|
|
|
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
|
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003640.5(ELP1):c.740+1G>T
|
|
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099
|
|
NM_003640.5(ELP1):c.812del (p.Asn271fs)
|
|
|
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.954_958+7del
|
rs2132025021
|
|
NM_003640.5(ELP1):c.959-1G>A
|
rs2132017099
|
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851
|
|
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)
|
|
|