Table S3: List of 35 variants identified in 37 candidate genes.

ARAUJO, T. Fenz, et al. Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology, 2020, 8. Jg., Nr. 2, S. 434-441.

Publication: https://doi.org/10.1111/andr.12704

Description

Description: B: benign prediction, T: tolerated, D: deleterious or damaging, N: neutral. 1ESP, 1000 Genomes, gnomAD. 2gnomAD, in bold: potentially pathogenic, MAF: minor allele frequency

Disclaimer

The publication Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes by Thais Fenz Araujo, Corinna Friedrich, Carlos Henrique Paiva Grangeiro, Lucia Regina Martelli, J D Grzesiuk, Jana Emich, Margot Julia Wyrwoll, Sabine Kliesch, Aguinaldo Luíz Simões, Frank Tüttelmann is published under an open access license: https://creativecommons.org/licenses/by-nc/4.0/. Share — copy and redistribute the material in any medium or format Adapt — remix, transform, and build upon the material

Curation by the MFGA team

Pie chart of selected column

Table

ARTIFACTID	GENE	protein	patientId	Transcript	CdnaChange	Polyphen/sift/mutationTaster	SequencingParameters(read/variantDepth)	ExclusionReason	Cadd>Damage	MafInAnySubpopulation1	MafInLatinoPopulation2
NM_000492.3	CFTR	p.Ser422Phe	M1802	NM_000492.3	c.1265C>T	B/T/N	85/11	single recessive	13.07	0.0005	0.0012
NM_000492.3	CFTR	p.Ser422Phe	M1807	NM_000492.3	c.1265C>T	B/T/N	81/10	single recessive	13.07	0.0005	0.0012
NM_000492.3	CFTR	p.Asp1445Asn	M1815	NM_000492.3	c.4333G>A	D/T/D	170/79	single recessive	25.4	0.0029	0.0003
NM_021951.2	DMRT1	p.Asn224Ser	M1816	NM_021951.2	c.671A>G	D/T/D	242/128	-	25.4	0.0124	0.0012
NM_006892.3	DNMT3B	p.Val818Met	M1814	NM_006892.3	c.2452G>A	D/D/-	282/132	-	34	0.0001	0.0000
NM_005225.2	E2F1	p.Ala102Thr	M1806	NM_005225.2	c.304G>A	B/T/D	213/102	present in control	24.1	0.0079	0.0021
NM_000135.2	FANCA	p.Asp1033Glu	M1817	NM_000135.2	c.3099C>A	B/T/-	113/60	single recessive	0.01	0.0003	0.0003
NM_020937.2	FANCM	p.Gln1733Glu	M1802	NM_020937.2	c.5197C>G	B/T/N	199/94	benign prediction	0.007	0.0001	0.0000
NM_020937.2	FANCM	p.Ile1742Val	M1802	NM_020937.2	c.5224A>G	B/T/N	196/97	benign prediction	0.001	0.0234	0.0061
NM_020937.2	FANCM	p.Asp55Asn	M1803	NM_020937.2	c.163G>A	D/T/-	412/189	single recessive	31	0.0006	0.0000
NM_020937.2	FANCM	p.Asp55Asn	M1805	NM_020937.2	c.163G>A	D/T/-	337/157	single recessive	31	0.0006	0.0000
NM_020937.2	FANCM	p.Thr77Ala	M1806	NM_020937.2	c.229A>G	B/T/-	283/150	benign prediction	0.001	0.0393	0.0122
NM_020937.2	FANCM	p.Thr1170Met	M1806	NM_020937.2	c.3509C>T	B/T/N	92/40	benign prediction	0.003	0.0002	0.0000
NM_020937.2	FANCM	p.Thr1600Ile	M1807	NM_020937.2	c.4799C>T	B/T/N	26/10	single recessive	26.8	0.0429	0.0074
NM_020937.2	FANCM	p.Asn1253Ser	M1812	NM_020937.2	c.3758A>G	B/T/N	54/20	benign prediction	0.001	0.0486	0.0076
NM_020937.2	FANCM	p.Asn1876Ser	M1812	NM_020937.2	c.5627A>G	B/T/N	168/77	benign prediction	0.134	0.048	0.0076
NM_020937.2	FANCM	p.Arg581His	M1817	NM_020937.2	c.1742G>A	D/D/D	232/113	single recessive	34	0.0002	0.0001
NM_017518.7	HAUS7	p.Ser216Cys	M1812	NM_017518.7	c.647C>G	D/T/-	60/60	high frequency	7.425	0.023	0.0012
NM_001329595.1	KLHL10	p.Asn81Ile	M1811	NM_001329595.1	c.242A>T	B/T/D	178/92	-	19.23	0.002	0.0014
NM_001329595.1	KLHL10	p.Ile296Thr	M1816	NM_001329595.1	c.887T>C	B/T/D	323/174	-	23	0.0102	0.0022
NM_152513.3	MEI1	p.Arg892Cys	M1802	NM_152513.3	c.2674C>T	D/D/-	107/57	single recessive	32	0.0001	0.0000
NM_005390.4	PDHA2	p.Arg376Gly	M1811	NM_005390.4	c.1126C>G	D/D/D	176/86	single recessive	27.2	0.0605	0.0022
NM_014469.4	RBMXL2	p.Gly262Val	M1812	NM_014469.4	c.785G>T	D/D/D	445/204	present in control	24.3	0.0048	0.0029
NM_001048205.1	REC8	p.Arg31Cys	M1809	NM_001048205.1	c.91C>T	D/-/D	179/91	-	35	0.0052	0.0010
NM_001143764.1	SYCE1	p.Arg125Gly	M1811	NM_001143764.1	c.373A>G	D/-/D	168/86	single recessive	27.9	0.0156	0.0002
NM_001129979.1	SYCE1L	p.Leu8Val	M1809	NM_001129979.1	c.22C>G	D/-/-	152/152	-	6.455	0.0386	0.0016
NM_001201457.1	TEX14	p.Glu1433Lys	M1810	NM_001201457.1	c.4297G>A	B/D/D	37/17	-	26.9	0.0039	0.0000
NM_001201457.1	TEX14	p.Gln243Glu	M1810	NM_001201457.1	c.727C>G	D/D/D	202/101	-	25.9	0.012	0.0005
NM_031271.3	TEX15	p.Gly2692Arg	M1804	NM_031271.3	c.8074G>A	D/-/N	122/59	-	24.9	0.005	0.0033
NM_031271.3	TEX15	p.Ser1990Asn	M1804	NM_031271.3	c.5969G>A	B/-/N	80/34	-	9.141	0.0257	0.0111
NM_031271.3	TEX15	p.Asp546Gly	M1807	NM_031271.3	c.1637A>G	-/-/N	64/30	single recessive	3.95	0.0136	0.0004
NM_031271.3	TEX15	p.Glu1966Lys	M1810	NM_031271.3	c.5896G>A	B/-/N	76/33	single recessive	0.003	0.0287	0.0005
NM_031271.3	TEX15	p.His2593Arg	M1813	NM_031271.3	c.7778A>G	B/-/N	67/30	single recessive	0.085	0.0004	0.0000
NM_015294.4	TRIM37	None	M1809	NM_015294.4	c.861-6C>T	-/-/-	72/37	single recessive	3.142	0.0345	0.0085
NM_015294.4	TRIM37	None	M1812	NM_015294.4	c.861-6C>T	-/-/-	59/26	single recessive	3.142	0.0345	0.0085