Table 1 SHANK2 genetic landscape

Sequence Variants

Coding DNA Change

Amino Acid Change

Inheritance

 c.2802dupC

p.Ala935Argfs*30

de novo

 c.2826_2853dup

p.Phe952Hisfs*22

de novo

 c.2445_2446delGT

p.Tyr816Argfs*69

de novo

 c.3364_3365dup

p.Pro1123Glyfs*52

unknown

 c.4930G > T

p.Glu1644*

de novo

 c.2521 C > T

p.Arg841*

de novo

Copy Number Variants (Deletions)

Start Coordinate

End Coordinate

Inheritance

 70,419,765

70,606,442

unknown

 70,384,774

70,613,589

unknown

 70,423,040

70,685,140

unknown

 70,317,016

70,535,034

de novo