Mutations List
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T854A
21
Substitution - Missense
T854A, p.T854A, Thr854Ala, c.2560A>G
V717A
18
Substitution - Missense
V717A, p.V717A, Val717Ala, c.2150T>C
V726M
18
Substitution - Missense
V726M, p.V726M, Val726Met, c.2176G>A
V765M
20
Substitution - Missense
V765M, p.V765M, Val765Met, c.2293G>A
V769_D770
20
V769_D770
V769_D770insASV
20
Insertion - In frame
V769_D770insASV, p.V769_D770insASV, Val769_Asp770insAlaSerVal, c.2296_2297insTGGCCAGCG, c.2303_2304insTGTGGCCAG, c.2307_2308insGCCAGCGTG, c.2308_2309insCCAGCGTGG, c.2309_2310AC>CCAGCGTGGAT
V769_D770insGVV
20
Insertion - In frame
V769_D770insGVV, p.V769_D770insGVV, c.2308_2309insGGGTCGTGG
V769L
20
Substitution - Missense
V769L, p.V769L, Val769Leu, c.2305G>T
V769M
20
Substitution - Missense
V769M, p.V769M, Val769Met, c.2305G>A
V774M
20
Substitution - Missense
V774M, p.V774M, Val774Met, c.2320G>A
V786M
20
Substitution - Missense
V786M, p.V786M, Val786Met, c.2356G>A
V834L
21
Substitution - Missense
V834L, p.V834L, Val834Leu, c.2500G>T
