Mutations List

G719X, p.G719X, Gly719X

G721S, p.G721S, Gly721Ser, c.2161G>A

G724S, p.G724S, Gly724Ser, c.2170G>A

G729A, p.G729A, Gly729Ala, c.2186G>C

G753C, p.G753C, Gly753Cys

G753S, p.G753S, Gly753Ser

G810D, p.G810D, Gly810Asp, c.2429G>A

G857E, p.G857E, Gly857Glu, c.2570G>A

G857V, p.G857V, Gly857Val, c.2570G>T

G861L, p.G861L, Gly861Leu

G873R, p.G873R, Gly873Arg, c.2617G>C

H773_R776insYNPY, p.H773_R776insYNPY, His773_Arg776insTyrAsnProTyr, c.2317delCinsTACAACCCCT

H773_V774dup

H773_V774insAH, p.H773_V774insAH, His773_Val774insAlaHis

H773_V774insGHPH, p.H773_V774insGHPH, His773_Val774insGlyHisProHis

H773_V774insH, p.H773_V774insH, His773_Val774insHis, c.2319_2320insCAC, c.2315_2316insCCA, H773dup

H773dup, p.H773dup, c.2317_2319dup

H773dup3, p.H773dup3, His773dup3, H773dupH Exon 20

H773L, p.H773L, His773Leu, c.2318A>T

H805Y, p.H805Y, His805Tyr