NC_000005.10:g.(?_140114162)_(140115170_?)del
|
|
|
NC_000005.10:g.140113537_140114444delinsGAGGTGGG
|
|
|
NM_005859.5(PURA):c.10C>T (p.Arg4Ter)
|
rs1561792945
|
|
NM_005859.5(PURA):c.119del (p.Gly40fs)
|
rs1581036115
|
|
NM_005859.5(PURA):c.144del (p.Ala50fs)
|
rs1763039753
|
|
NM_005859.5(PURA):c.148del (p.Ala50fs)
|
rs1554129035
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005859.5(PURA):c.163C>T (p.Gln55Ter)
|
rs1085307472
|
|
NM_005859.5(PURA):c.169G>T (p.Glu57Ter)
|
rs2126748783
|
|
NM_005859.5(PURA):c.175C>T (p.Gln59Ter)
|
rs1561793115
|
|
NM_005859.5(PURA):c.1A>T (p.Met1Leu)
|
rs793888530
|
|
NM_005859.5(PURA):c.205C>T (p.Gln69Ter)
|
rs1554129045
|
|
NM_005859.5(PURA):c.20del (p.Gly7fs)
|
|
|
NM_005859.5(PURA):c.25G>T (p.Glu9Ter)
|
|
|
NM_005859.5(PURA):c.267del (p.Glu90fs)
|
rs1064793665
|
|
NM_005859.5(PURA):c.2T>C (p.Met1Thr)
|
|
|
NM_005859.5(PURA):c.307_308del (p.Ser103fs)
|
rs587782992
|
|
NM_005859.5(PURA):c.310dup (p.Met104fs)
|
rs2126748922
|
|
NM_005859.5(PURA):c.312del (p.Met104fs)
|
rs1581036297
|
|
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter)
|
rs1581036318
|
|
NM_005859.5(PURA):c.380dup (p.Ser127fs)
|
|
|
NM_005859.5(PURA):c.382dup (p.Gln128fs)
|
rs1561793211
|
|
NM_005859.5(PURA):c.387dup (p.Pro130fs)
|
rs2126749006
|
|
NM_005859.5(PURA):c.389del (p.Pro130fs)
|
rs2126749009
|
|
NM_005859.5(PURA):c.3G>A (p.Met1Ile)
|
|
|
NM_005859.5(PURA):c.433dup (p.Ser145fs)
|
|
|
NM_005859.5(PURA):c.459dup (p.Lys154fs)
|
rs1763047286
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
NM_005859.5(PURA):c.478A>T (p.Lys160Ter)
|
|
|
NM_005859.5(PURA):c.487C>T (p.Gln163Ter)
|
rs1554129091
|
|
NM_005859.5(PURA):c.494_497dup (p.Phe167fs)
|
rs1561793268
|
|
NM_005859.5(PURA):c.502dup (p.Leu168fs)
|
rs2126749156
|
|
NM_005859.5(PURA):c.619_625del (p.Asp207fs)
|
rs1561793344
|
|
NM_005859.5(PURA):c.647_660del (p.Ala216fs)
|
rs2126749301
|
|
NM_005859.5(PURA):c.671del (p.Ser223_Leu224insTer)
|
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)
|
rs1763053854
|
|
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)
|
rs1763036339
|
|
NM_005859.5(PURA):c.895dup (p.Gln299fs)
|
rs2126749469
|
|
NM_005859.5(PURA):c.928dup (p.Thr310fs)
|
|
|