NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)
|
rs200761047
|
0.00005
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)
|
rs139574075
|
0.00002
|
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)
|
rs1168592296
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
|
|
|
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
|
|
|
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
|
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
|
|
|
NM_001244710.2(GFPT1):c.739+1G>A
|
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)
|
rs1131691986
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005677.4(COLQ):c.1082del (p.Pro361fs)
|
rs769982050
|
|
NM_005677.4(COLQ):c.1298+3A>G
|
rs1384843815
|
|
NM_005677.4(COLQ):c.393+1G>A
|
rs1085307792
|
|
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter)
|
rs2062264317
|
|
NM_005677.4(COLQ):c.870_871del (p.Cys291fs)
|
|
|
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|