Table 1.

ADSL truncating variants in ExAC with their respective allele frequencies.

Chrom	Position	Ref	Alt	Transcript change	Protein change	Consequence	Allele count	Allele number	CADD Phred
22	40749122	G	T	c.402 + 1G > T		Splice donor	1	121298	26.6
22	40754866	A	C	c.483 − 2A > C		Splice acceptor	1	121410	25.4
22	40755311	G	A	c.701 + 1G > A		Splice donor	1	121412	29.4
22	40757347	G	T	c.862 + 1G > T		Splice donor	1	121402	27.8
22	40758984	G	A	c.1011 − 1G > A		Splice acceptor	1	121408	26.6
22	40757290	T	TA	c.807dupA	p.Arg270Thrfs*14	Frameshift	1	121406	35
22	40760901	CAG	C	c.1212_1213delAG	p.Arg404Serfs*11	Frameshift	1	121410	36
22	40760367	C	T	c.1189C > T	p.Gln397*	Stop gained	1	115304	43
22	40760914	C	T	c.1222C > T	p.Gln408*	Stop gained	1	121412	43
22	40742635	G	T	c.73G > T	p.Glu25*	Stop gained	1	92518	38
22	40760935	AAG	A	c.1244_1245delAG	p.Lys415Thrfs*5	Frameshift	1	121410	35
22	40745835	GA	G	c.154delA	p.Thr52Hisfs*14	Frameshift	1	119038	24.2
22	40742697	G	A	c.135G > A	p.Trp45*	Stop gained	1	95974	37
22	40761059	AG	A	c.1368 + 1delG		Frameshift	2	121402	35