Table 1. Summary of the features of the... | Rockefeller University Press

Table 1.

Summary of the features of the intronic variants identified with the various associated scores

Kindred	Type of variant	Locus	Zygosity	gDNA position (hg38)	cDNA (MANE)	BPHunter score	AGAIN score	Absolute SpliceAI max/Pangolin max	CADD v1.7	phyloP	phastCons
A	BP	BTK	Hemizygous	chrX-101354717-TG-T	c.1567-24del	4	NA	0.43/0.47	14.78	1.63	1
B	BP	SH2D1A	Hemizygous	chrX-124365739-A-G	c.138-22A>G	4	NA	0.81/0.64	20.2	5.24	1
C	BP	WAS	Hemizygous	chrX-48685714-T-G	c.361-20T>G	7	NA	0.54/0.36	7.994	3.08	0.99
D	AG-gain	DOCK8^{^a}	Heterozygous	chr9-396780-C-A	c.2971-5C>A	NA	5	0.99/0.83	20.83	1.77	0.03
E	AG-gain	STXBP2	Homozygous	chr19-7644605-T-A	c.1108-9T>A	NA	4	0.50/0.64	5.750	−0.61	0
F	AG-gain	UNC13D^{^b}	Heterozygous	chr17-75831397-G-T	c.2448-49C>A	NA	4	1/0.85	8.359	−0.28	0
G	AG-gain	NFKB1	Heterozygous	chr4-102578848-T-A	c.572-33T>A	NA	3	0.99/0.85	4.551	1.44	0.44

Kindred	Type of variant	Locus	Zygosity	gDNA position (hg38)	cDNA (MANE)	BPHunter score	AGAIN score	Absolute SpliceAI max/Pangolin max	CADD v1.7	phyloP	phastCons
A	BP	BTK	Hemizygous	chrX-101354717-TG-T	c.1567-24del	4	NA	0.43/0.47	14.78	1.63	1
B	BP	SH2D1A	Hemizygous	chrX-124365739-A-G	c.138-22A>G	4	NA	0.81/0.64	20.2	5.24	1
C	BP	WAS	Hemizygous	chrX-48685714-T-G	c.361-20T>G	7	NA	0.54/0.36	7.994	3.08	0.99
D	AG-gain	DOCK8^{^a}	Heterozygous	chr9-396780-C-A	c.2971-5C>A	NA	5	0.99/0.83	20.83	1.77	0.03
E	AG-gain	STXBP2	Homozygous	chr19-7644605-T-A	c.1108-9T>A	NA	4	0.50/0.64	5.750	−0.61	0
F	AG-gain	UNC13D^{^b}	Heterozygous	chr17-75831397-G-T	c.2448-49C>A	NA	4	1/0.85	8.359	−0.28	0
G	AG-gain	NFKB1	Heterozygous	chr4-102578848-T-A	c.572-33T>A	NA	3	0.99/0.85	4.551	1.44	0.44

MANE, Matched Annotation from NCBI; EMBL-EBI; MAF, minor allele frequency

In trans with a heterozygous deletion encompassing exons 13–43.

In trans with the c.2927A>C p.H976P variant.