Mutations List
Please return to Search Results/Clinical Outcomes page to search for individual patient results.
L747_P753>Q
19
Deletion - Unknown
L747_P753>Q, p.L747_P753>Q, Leu747_Pro753>Gln
L747_P753delins
20
Insertion - Unknown
L747_P753delins
L747_P753delinsS
19
L747_P753delinsS, p.L747_P753delinsS, Leu747_Pro753delinsSer
L747P
19
Substitution - Missense
L747P, p.L747P, Leu747Pro, c.2239_2240TT>CC
L747S
19
Substitution - Missense
L747S, p.L747S, Leu747Ser, c.2240T>C
L747V
19
Substitution - Missense
L747V, p.L747V, Leu747Val
L798F
20
Substitution - Missense
L798F, p.L798F, Leu798Phe, c.2392C>T
L833F
21
Substitution - Missense
L833F, p.L833F, Leu833Phe
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
M277E
7
M277E, p.M277E, Met277Glu
M766delinsMASV
20
Complex - Deletion/Insertion
M766delinsMASV, p.M766delinsMASV, Met766delinsMetAlaSerVal, c.2296_2297ins9
M766delinsMATL
20
Complex - Deletion/Insertion
M766delinsMATL, p.M766delinsMATL, Met766delinsMetAlaThrLeu
M766dupMASV
20
Complex - Duplication
M766dupMASV, p.M766dupMASV, Met766dupMetAlaSerVal, c.2296_2297dup9
M766insASV
20
M766insASV
