Mutations List
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N771_H773dup
20
Insertion - In frame
N771_H773dup, p.N771_H773dup , H773_V774insNPH, c.2311_2319dup
N771_P772ins
20
Insertion - Unknown
N771_P772ins
N771_P772insPHGH
20
N771_P772insPHGH
N771_P772insRH
20
Complex - Insertion
N771_P772insRH, p.N771_P772insRH, Asn772_Pro772insArg, c.2314_2315insGCCACC
N771>GY
20
Complex - insertion inframe
N771>GY, p.N771>GY, Asn771>GlyTyr, c.2311A>GGTT, N771_P772insGY
N771delinsKG
20
Complex - Deletion/Insertion
N771delinsKG
N771dup
20
Duplication - Unknown
N771dup, p.N771dup, Asn771dup
P744M
19
Substitution - Missense
P744M, p.P744M, Pro744Met
P753L
19
Substitution - Missense
P753L, p.P753L, Pro753Leu, c.2258C>T
P753Q
19
Substitution - Missense
P753Q, p.P753Q, Pro753Gln, c.2258C>A
P753S
19
Substitution - Missense
P753S, p.P753S, Pro753Ser, c.2257C>T
P773Q
20
Substitution - Missense
P773Q, p.P773Q, Pro773Gln, c.2318C>A
P774-A775
20
Unknown
P774-A775
P794L
21
Substitution - Missense
P794L, p.P794L, Pro794Leu, c.2381C>T
P848L
21
Substitution - Missense
P848L, p.P848L, Pro848Leu, c.2543C>T
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
