Mutations List
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G873R
21
Substitution - Missense
G873R, p.G873R, Gly873Arg, c.2617G>C
H773_R776insYNPY
20
Complex - insertion inframe
H773_R776insYNPY, p.H773_R776insYNPY, His773_Arg776insTyrAsnProTyr, c.2317delCinsTACAACCCCT
H773_V774dup
20
H773_V774dup
H773_V774insAH
20
Complex - Insertion
H773_V774insAH, p.H773_V774insAH, His773_Val774insAlaHis
H773_V774insH
20
Duplication - Unknown
H773_V774insH, p.H773_V774insH, His773_Val774insHis, c.2319_2320insCAC, c.2315_2316insCCA, H773dup
H773dup
20
Insertion - In frame
H773dup, p.H773dup, c.2317_2319dup
H773dup3
20
Insertion - In frame
H773dup3, p.H773dup3, His773dup3, H773dupH Exon 20
H773L
20
Substitution - Missense
H773L, p.H773L, His773Leu, c.2318A>T
H805Y
20
Substitution - Missense
H805Y, p.H805Y, His805Tyr
H835L
21
Substitution - Missense
H835L, p.H835L, His835Leu, c.2504A>T
H870R
21
Substitution - Missense
H870R, p.H870R, His870Arg, c.2609A>G
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
