Table 1.

Extensive information on the variants detected by Rakela et al.

Gene	rs	N	chr	GRCh38	REF	ALT	Canonical RNA transcript	DNA	Protein	Variant type	gnomAD E	gnomAD G
SERPINB11	rs4940595	23	18	63712604	G	T	NM_080475.4	c.268G>T	p.Glu90Ter	Non-sense	—	0.63
	rs4940595	0	18	63712604	G	A	NM_080475.4	c.268G>A	p.Glu90Lys	Missense	—	0.0000279
	rs4940595	0	18	63712604	G	C	NM_080475.4	c.268G>C	p.Glu90Gln	Missense	—	0.00000699
CYP2D6	rs1135840	16	22	42126611	C	G	NM_000106.6	c.1457G>C	p.Ser486Thr	Missense	—	0.577
ANTXRL	rs7091749	8	10	46330066	C	A	NM_001278688.2	c.1878C>A	p.Pro626=	Synonymous	—	0.000007
	rs7091749		10	46330066	C	G	NM_001278688.2	c.1878C>G	p.Pro626=	Synonymous	—	0.194
	rs7091749		10	46330066	C	T	NM_001278688.2	c.1878C>T	p.Pro626=	Synonymous	—	0.0103
MUC6	rs776572312	9	11	1016887	G	A	NM_005961.3	c.5914C>T	p.Pro1972Ser	Missense	0.00002	0.0118
OR6J1	rs1753430	14	14	22634064	A	G	NM_001348233.1	c.748T>C	p.Ser250Pro	Missense	—	0.41
GNAL	rs201898548	3	18	11689671	_	GGCCCT	ENST00000334049.11	c.113_118dupTGGCCC	p.Leu38_Ala39dup	Insertion	0.0842	0.141
	rs201898548		18	11689671	GGCCCT	_	ENST00000334049.11	c.113_118delTGGCCC	p.Leu38_Ala39del	Inframe deletion	0.00104	0.0168
AADACL3	rs3010877	7	1	12719616	C	T	NM_001103170.3	c.310C>T	p.Pro104Ser	Missense	—	0.151
MCL1	rs11580946	3	1	150578851	G	A	NM_021960.5	c.680C>T	p.Ala227Val	Missense	0.00842	0.0086
CYP2D7	rs56404506	11	22	42141186	C	T	NM_001348386.3	c.1196G>A	p.Arg399His	Missense	—	0.281
CYP2D7	rs1800754	15	22	42141587	G	A	NM_001348386.3	c.932C>T	p.Ser311Leu	Missense	—	0.48
	rs1800754		22	42141587	G	T	NM_001348386.3	c.932C>A	p.Ser311Ter	Non-sense	—	—
RRP36	rs200886831	9	6	43021676	_	GCCGGG (6bp)	ENST00000244496.6	c.43_48dupGGGGCC	p.Gly15_Ala16dup	Insertion	0.000075	0.00104
	rs200886831		6	43021676	GCCGGG (6bp)	_	ENST00000244496.6	c.43_48delGGGGCC	p.Gly15_Ala16del	Inframe deletion	0.0419	0.285
	rs200886831		6	43021676	_	GC…GG (12bp)	ENST00000244496.6	c.37_48dupGGGGCCGGGGCC	p.Gly13_Ala16dup	Insertion	—	0.000014
	rs200886831		6	43021676	GC…GG (12bp)	_	ENST00000244496.6	c.37_48del	p.Gly13_Ala16del	Inframe deletion	0.000187	0.000961
KIAA1161	rs4879782	6	9	34372875	G	C	NM_020702.5	c.69C>G	p.Tyr23Ter	Non-sense	—	0.251

ALT, alternative allele; Chr, chromosome; gnomAD, Allele frequency according to gnomAD exome database; gnomAD G, Allele frequency according to gnomAD genome database; GRCh38, position of the variant according to the last annotation of the human genome; N, number of patients with the variants in the cohort described by Rakela et al; REF, reference allele; rs: the identifier (ID) of the variant according to the last version of the human database of single nucleotide polymorphism (dbSNP 151)