NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)
|
rs1025967277
|
0.00002
|
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)
|
rs747619825
|
0.00001
|
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter)
|
rs1171155255
|
0.00001
|
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)
|
rs781199182
|
0.00001
|
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)
|
rs761798208
|
0.00001
|
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)
|
rs387906670
|
0.00001
|
NM_001611.5(ACP5):c.799del (p.Ser267fs)
|
rs1294990891
|
0.00001
|
NM_001611.5(ACP5):c.831_833del (p.Tyr278del)
|
rs387906671
|
0.00001
|
NC_000019.9:g.(?_11685805)_(11688152_?)del
|
|
|
NC_000019.9:g.(?_11685825)_(11688132_?)del
|
|
|
NM_001611.5(ACP5):c.136del (p.Arg46fs)
|
rs2145093044
|
|
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter)
|
rs965741395
|
|
NM_001611.5(ACP5):c.257del (p.Phe86fs)
|
rs2145092503
|
|
NM_001611.5(ACP5):c.259del (p.Gln87fs)
|
rs2145092472
|
|
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile)
|
rs387906668
|
|
NM_001611.5(ACP5):c.266_272del (p.Thr89fs)
|
rs2145091349
|
|
NM_001611.5(ACP5):c.361del (p.Ile121fs)
|
rs749753832
|
|
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)
|
|
|
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)
|
|
|
NM_001611.5(ACP5):c.44_65del (p.Leu15fs)
|
rs1973203506
|
|
NM_001611.5(ACP5):c.526del (p.Arg176fs)
|
rs2145089035
|
|
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)
|
|
|
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)
|
rs387906672
|
|
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)
|
|
|
NM_001611.5(ACP5):c.625_626del (p.Trp209fs)
|
rs1599634435
|
|
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)
|
|
|
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg)
|
rs781199182
|
|
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)
|
|
|
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)
|
rs387906669
|
|
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)
|
|
|
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)
|
rs2145087756
|
|
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)
|
rs2145087630
|
|
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter)
|
rs1973142593
|
|
NM_001611.5(ACP5):c.736-2A>G
|
rs1973089024
|
|
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)
|
rs878853218
|
|
NM_001611.5(ACP5):c.816dup (p.Lys273fs)
|
rs879255600
|
|