Mutations List
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D770_N771
20
D770_N771
D770_N771ins
20
Insertion - Unknown
D770_N771ins
D770_N771insG
20
Complex - Insertion
D770_N771insG, p.D770_N771insG, Asp770_Asn771insGly, c.2310_2311insGGG/T
D770_N771insGL
20
Insertion - In frame
D770_N771insGL, p.D770_N771insGL, c.2310_2311insGGGTTA
D770_N771insSVD
20
Insertion - Unknown
D770_N771insSVD
D770_P772dup
20
Complex - Duplication
D770_P772dup, p.D770_P772dup, Asp770_Pro772dup, c.2307_2315dup
D770ins
20
Insertion - Unknown
D770ins, p.D770Ins, Asp770Ins
Del19
19
Deletion - In frame
Del19, c.(2185_2283)del?, c.2238_2248>GC, c.2235_2249del15, p.(729_761)del?, p.L747_A750>P, p.E746_A750delELREA, p.T751_I759del
delE709_T710insD
18
Complex - deletion inframe
delE709_T710insD, p.E709_T710>D, Glu709_Thr710>Asp, c.2127_2129delAAC, E709_T710>D, E709_T710delinsD
E709_710del
18
Deletion - In frame
E709_710del, p.E709_710del, Glu709_710del, Exon 18 2127-2130 deletion
E709_T710delinsA
18
E709_T710delinsA, p.E709_T710>A, Glu709_T710>Ala
E709_T710insD
18
Complex - Insertion
E709_T710insD, p.E709_T710insD, Glu709_Thr710insD
E709A
18
Substitution - Missense
E709A, p.E709A, Glu709Ala, c.2126A>C
E709D
18
Substitution - Missense
E709D, p.E709D, Glu709Asp
E709F
18
Substitution - Missense
E709F, p.E709F, Glu709Phe, c.2126F>C
E709G
18
Substitution - Missense
E709G, p.E709G, Glu709Gly, c.2126A>G
E709H
18
Substitution - Missense
E709H, p.E709H, Glu709His, c.2125_2127GAA>CAT
E709K
18
Substitution - Missense
E709K, p.E709K, Glu709Lys, c.2125G>A
E709L
18
Substitution - Missense
E709L, p.E709L, Glu709Leu
E709X
18
Substitution - Missense
E709X, p.E709X, Glu709X, E709G/V
