Mutations List
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L62R
2
Substitution - Missense
L62R, p.L62R, Leu62Arg, c.185T>G
L718Q
18
Substitution - Missense
L718Q, p.L718Q, Leu718Gln, c.2153T>A
L718V
18
Substitution - Missense
L718V, p.L718V, Leu718Val
L730R
19
Substitution - Missense
L730R, p.L730R, Leu730Arg, c.2189T>G
L745-E746
19
L745-E746, p.L745-E746, Leu745-Glu746
L747
19
L747, p.L747, Leu747
L747_K754delinsSE
19
Complex - Deletion/Insertion
L747_K754delinsSE, p.Leu747_Lys754delinsSerGlu
L747_P753>Q
19
Deletion - Unknown
L747_P753>Q, p.L747_P753>Q, Leu747_Pro753>Gln
L747_P753delins
20
Insertion - Unknown
L747_P753delins
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
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
