Mutations List
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G719S
18
Substitution - Missense
G719S, p.G719S, Gly719Ser, c.2155G>A, G719X, p.G719X, Gly719X
G719X
18
Substitution - Missense
G719X, p.G719X, Gly719X
G721S
18
Substitution - Missense
G721S, p.G721S, Gly721Ser, c.2161G>A
G724S
18
Substitution - Missense
G724S, p.G724S, Gly724Ser, c.2170G>A
G810D
20
Substitution - Missense
G810D, p.G810D, Gly810Asp, c.2429G>A
G857E
21
Substitution - Missense
G857E, p.G857E, Gly857Glu, c.2570G>A
G857V
21
Substitution - Missense
G857V, p.G857V, Gly857Val, c.2570G>T
G861L
21
Substitution - Missense
G861L, p.G861L, Gly861Leu
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_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
