No potential BH4 responsiveness (n) | Potential BH4 responsiveness (n) |
---|---|
c.168+5G>C1/p.R261Q (1) | False positive |
c.842+1G>A1/p.R243Q (1) | c.1315 + 1G > A1/p.I174N (1) |
c.842+5G>A1/p.R158Q (1) | p.R158Q/p.R158Q (1) |
c.1066-11G>A1/p.D222G (1) | p.R158Q/p.Y277D (1) |
c.1315+1G>A1/p.I174N (1) | p.R243*1/p.R261Q (1) |
c.1315+1G>A1/p.R261Q (4) | Â |
c.1315+1G>A1/p.R261P (1) | True positive |
c.1315+1G>A1/p.Y277D (1) | p.L48S2/p.R408W (1) |
c.1315+1G>A1/p.R408W (1) | p.A104D3/p.R158Q (1) |
p.L48S2 /p.R261Q (1) | p.A104D3/p.R408W (1) |
p.R111X1/p.R408W (1) | p.R158Q/p.V190A2 (2) |
p.R158Q/p.R158Q (1) | p.R158Q/p.Y414C2 (2) |
p.R158Q/p.R243*1 (1) | p.I174N/p.P211T3 (1) |
p.R158Q/p.R261P (1) | p.E178G2/p.Y343C (1) |
p.R158Q/p.R408W1 (1) | p.R261Q/p.P281L1,4 (1) |
p.I174T/p.F299C1 (1) | p.R261P/p.Y414C2 (1) |
p.C203Y/ p.L348V2 (1) | p.Y277D/p.P314H3 (1) |
p.R261Q/p.R261Q (2) | p.E280K/p.Y414C2 (1) |
p.R261Q/p.E280K1(2) | p.A300S2/p.R408W (1) |
p.R261Q/p.P281L1 (1) | Â |
p.P281L1/p.R413P (2) | No extension phase |
 | p.L48S2/p.R158Q (1) |
 | p.Y277D/p.P314H3 (1) |