. 2015 Apr 5;14(3):455–461. doi: 10.1007/s10689-015-9800-5

Table 2.

Summary of other CNVs with the involvement of Alu elements of interest in the STK11 gene

Study	Original mutation description	Deleted exons	Mutation size	Distal BP (5′)	Proximal BP (3′)	Interspersed repeat at 5′ BP	Interspersed repeat at 3′ BP
Italy II [15]	1,155,146–1,155,173 1,170,719–1,170,746	Exon 1–3	15,572	1,204,146–1,204,173	1,219,719–1,219,746	AluSq	AluY(3)
Chile [14]	1,213,086–1,218,902	Exon 2	5816	1,213,086	1,218,902	AluY(2)	None

Study

Original mutation description

Deleted exons

Mutation size

Distal BP (5′)

Proximal BP (3′)

Interspersed repeat at 5′ BP

Interspersed repeat at 3′ BP

Italy II [15]

1,155,146–1,155,173

1,170,719–1,170,746

Exon 1–3

15,572

1,204,146–1,204,173

1,219,719–1,219,746

AluSq

AluY(3)

Chile [14]

1,213,086–1,218,902

Exon 2

5816

1,213,086

1,218,902

AluY(2)

None