Mutations List
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I706T
18
Substitution - Missense
I706T, p.I706T, Ile706Thr
I740V
19
Substitution - Missense
I740V, p.I740V, Ile740Val, c.2218A>G
K716E
18
Substitution - Missense
K716E, p.K716E, Lys716Glu, c.2146A>G
K739_1744dup6
19
Duplication - Unknown
K739_1744dup6, p.K739_1744dup6, Lys739_1744dup6
K745_E746insIPVAIK
19
K745_E746insIPVAIK, c.2217_2234dup
K754E
19
Substitution - Missense
K754E, p. K754E, Lys754Glu, c.2260A>G
K860I
21
Substitution - Missense
K860I, p.K860I, Lys860Ile, c.2579A>T
KIF5B
18
Fusion
KIF5B
L50R
2
Substitution - Missense
L50R, p.L50R, Leu50Arg
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
L747_P753delinsS
19
L747_P753delinsS, p.L747_P753delinsS, Leu747_Pro753delinsSer
L747P
19
Substitution - Missense
L747P, p.L747P, Leu747Pro, c.2239_2240TT>CC
