Mutations List
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POLE
POLE
Q701*
18
Substitution - Nonsense
Q701*, p.Q701*, Gln701*, c.2101C>T
Q701K
18
Substitution - Missense
Q701K, p.Q701K, Gln701Lys, c.2101C>A
Q701L
18
Substitution - Missense
Q701L, p.Q701L, Gln701Leu, c.2102A>T
Q787Q
20
Substitution - coding silent
Q787Q, p.Q787Q, Gln787Gln, c.2361G>A
R670W
17
Substitution - Missense
R670W, p.R670W, Arg670Trp, c.2008A>T
R776C
20
Substitution - Missense
R776C, p.R776C, Arg776Cys, c.2326C>T
R776G
20
Substitution - Missense
R776G, p.R776G, Arg776Gly
R776H
20
Substitution - Missense
R776H, p.R776H, Arg776His, c.2327G>A
R776X
20
Substitution - Missense
R776X, p.R776X, Arg776X, R776
R836P
21
Substitution - Missense
R836P, p.R836P, Arg836Pro, c.2507G>C
ROS
ROS
S423S (ErbB2)
20
S423S (ErbB2)
S695I
18
Substitution - Missense
S695I, p.S695I, Ser695Ile, c.2084G>T
S720F
18
Substitution - Missense
S720F, p.S720F, Ser720Phe, c.2159C>T
S765I
20
Substitution - Missense
S765I, p.S765I, Ser765Ile, c.2294G>T
S768_D770dup
20
Insertion - In frame
S768_D770dup, p.S768_D770dup, c.2303_2311dup
S768I
20
Substitution - Missense
S768I, p.S768I, Ser768Ile, c.2303G>T
T710_714
18
Insertion - In frame
T710_714, p.T710_714, Thr710_714
T710_714Ins
18
Insertion - In frame
T710_714Ins, p.T710_714ins, Thr710_714ins, Exon 18 2130-2141 insertion, T710_714
