NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.89+1G>C
|
rs771730236
|
0.00001
|
NC_000003.12:g.(?_183092399)_(183094615_?)dup
|
|
|
NM_020166.5(MCCC1):c.1084-1G>C
|
rs2108479565
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)
|
rs1553854969
|
|
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)
|
rs119103215
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.1378-1G>T
|
rs2108470990
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
NM_020166.5(MCCC1):c.1594+1G>A
|
rs966900131
|
|
NM_020166.5(MCCC1):c.1595-1G>C
|
rs1337201010
|
|
NM_020166.5(MCCC1):c.1595-2A>G
|
rs1235781420
|
|
NM_020166.5(MCCC1):c.1731+1G>A
|
|
|
NM_020166.5(MCCC1):c.1732-1G>T
|
rs763877330
|
|
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
|
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
NM_020166.5(MCCC1):c.1870-2A>G
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.273+1G>C
|
|
|
NM_020166.5(MCCC1):c.369+2T>C
|
|
|
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
|
rs1182086058
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.761+1G>A
|
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
NM_020166.5(MCCC1):c.873+1G>A
|
|
|
NM_020166.5(MCCC1):c.89+1G>A
|
rs771730236
|
|
NM_020166.5(MCCC1):c.90-1G>A
|
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
NM_020166.5(MCCC1):c.955+1G>A
|
rs1340827377
|
|
NM_020166.5(MCCC1):c.955+1G>T
|
|
|