Mutations List
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L798F
20
Substitution - Missense
L798F, p.L798F, Leu798Phe, c.2392C>T
L833V
21
Substitution - Missense
L833V, p.L833V, Leu833Val, c.2497T>G
L858A
21
Substitution - Missense
L858A, p.L858A, Leu858Ala
L858M
21
Substitution - Missense
L858M, p.L858M, Leu858Met, c.2572C>A
L858R
21
Substitution - Missense
L858R, p.L858R, Leu858Arg, c.2573T>G, c.2573_2574TG>GT, c.2573_2574TG>GA, c.2572_2573CT>AG
L861P
21
Substitution - Missense
L861P, p.L861P, Leu861Pro
L861Q
21
Substitution - Missense
L861Q, p.L861Q, Leu861Gln, c.2582T>A
L861R
21
Substitution - Missense
L861R, p.L861R, Leu861Arg, c.2582T>G
M766delinsMATL
20
Complex - Deletion/Insertion
M766delinsMATL, p.M766delinsMATL, Met766delinsMetAlaThrLeu
M766insASV
20
M766insASV
Met exon 14
14
Met exon 14
N280Ins
7
Insertion - Unknown
N280Ins, p.N280ins, Asn280ins, insertion 280N 21
N771_H773dup
20
Insertion - In frame
N771_H773dup, p.N771_H773dup , c.2311_2319dup
N771_P772insPHGH
20
N771_P772insPHGH
N771>GY
20
Complex - insertion inframe
N771>GY, p.N771>GY, Asn771>GlyTyr, c.2311A>GGTT
P744M
19
Substitution - Missense
P744M, p.P744M, Pro744Met
P753S
19
Substitution - Missense
P753S, p.P753S, Pro753Ser, c.2257C>T
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
