NM_006348.5(COG5):c.613C>T (p.Arg205Ter)
|
rs370851836
|
0.00004
|
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)
|
rs762675426
|
0.00002
|
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)
|
rs548774836
|
0.00002
|
NM_006348.5(COG5):c.1159del (p.Arg387fs)
|
rs1422285851
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006348.5(COG5):c.1687G>T (p.Val563Phe)
|
rs773453129
|
0.00001
|
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro)
|
rs751860643
|
0.00001
|
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)
|
rs1135401817
|
0.00001
|
NC_000007.13:g.(?_106843961)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(106938811_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106924197_?)del
|
|
|
NC_000007.13:g.(?_106964865)_(106964986_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107052927)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107167662)_(107167822_?)del
|
|
|
NC_000007.13:g.(?_107188536)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107204228)_(107204434_?)del
|
|
|
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
|
|
|
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter)
|
rs2116916717
|
|
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
|
|
|
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
|
|
|
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)
|
rs1186766555
|
|
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
|
|
|
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
|
|
|
NM_006348.5(COG5):c.1415dup (p.Gly474fs)
|
rs773281248
|
|
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
|
|
|
NM_006348.5(COG5):c.1576-15A>G
|
rs1562937199
|
|
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter)
|
rs778187974
|
|
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs)
|
rs771651520
|
|
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
|
|
|
NM_006348.5(COG5):c.2167del (p.Arg723fs)
|
rs2116402799
|
|
NM_006348.5(COG5):c.220G>T (p.Glu74Ter)
|
rs1803451815
|
|
NM_006348.5(COG5):c.2234dup (p.Ser746fs)
|
rs2116202376
|
|
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)
|
rs751641438
|
|
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter)
|
rs2116201860
|
|
NM_006348.5(COG5):c.237del (p.Val80fs)
|
rs1330009938
|
|
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)
|
rs1798520770
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu)
|
rs1800843840
|
|
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
|
|
|
NM_006348.5(COG5):c.487C>T (p.Gln163Ter)
|
rs1231928102
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
|
|
|
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
|
|
|
NM_006348.5(COG5):c.697del (p.Gln233fs)
|
|
|
NM_006348.5(COG5):c.729_730dup (p.Thr244fs)
|
rs1289836014
|
|
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
|
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
|
|
|
NM_006348.5(COG5):c.936del (p.Val313fs)
|
|
|
NM_006348.5(COG5):c.961C>T (p.Gln321Ter)
|
rs370028534
|
|
NM_006348.5(COG5):c.96del (p.Cys33Valfs)
|
rs1554464495
|
|
NM_181581.3(DUS4L):c.-339_-338del
|
rs1049832940
|
|