Mutations List
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G724S
18
Substitution - Missense
G724S, p.G724S, Gly724Ser, c.2170G>A
G729A
19
Substitution - Missense
G729A, p.G729A, Gly729Ala, c.2186G>C
G753C
19
Substitution - Missense
G753C, p.G753C, Gly753Cys
G753S
19
Substitution - Missense
G753S, p.G753S, Gly753Ser
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_V774insAH
20
Complex - Insertion
H773_V774insAH, p.H773_V774insAH, His773_Val774insAlaHis
H773_V774insGHPH
20
H773_V774insGHPH, p.H773_V774insGHPH, His773_Val774insGlyHisProHis
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
