. 2021 Sep 24;12:695993. doi: 10.3389/fimmu.2021.695993

Table 2.

Genetic characteristics.

Nucleotide change		Protein change	Father	Mother	Province of Origin	Prediction				Frequency (ChinaMap)
Nucleotide change		Protein change	Father	Mother	Province of Origin	PROVEAN	SIFT	Mutation Taster	CADD PHRED	Allele Frequency	Count
P1	c.833G>T	p.R278L	p.R278L		Zhejiang	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.1271-1275delAAAGA	p.K424RfsX20		p.K424RfsX20		N/A	N/A	Prediction disease causing	N/A	0.000472233	10/21176
P2	c.833G>T	p.R278L		p.R278L	Sichuan	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.1271-1275delAAAGA	p.K424RfsX20	p.K424RfsX20			N/A	N/A	Prediction disease causing	N/A	0.000472233	10/21176
P3	c.833G>T	p.R278L	p.R278L		Guizhou	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.833G>T	p.R278L		p.R278L		Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
P4	c.833G>T	p.R278L	N/A	N/A	Shanxi	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.2113G>T	p.E705X	N/A			N/A	N/A	Disease causing	34.0	N/A	N/A
P5	c.833G>T	p.R278L	p.R278L		Tianjin	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.26C>T	p.T9I		p.T9I		Deleterious	Damaging	Ploymorphism	18.9	0.2066696	4377/21176
	c.1142-1143delCT	p.L382EfsX4		p.L382EfsX4		N/A	N/A	Prediction disease causing	N/A	0.000236116	5/21176
P6	c.833G>T	p.R278L	p.R278L		Beijing	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.935delC	p.P313HfsX19		p.P313HfsX19		N/A	N/A	Prediction disease causing	N/A	N/A	N/A
P7	c.833G>T	p.R278L	p.R278L		Inner Mongolia	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.2134-2135delTA	p.I712AfsX5		p.I712AfsX5		N/A	N/A	Prediction disease causing	N/A	N/A	N/A
P8	c.833G>T	p.R278L	p.R278L		Sichuan	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.833G>T	p.R278L		p.R278L		Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
P9	c.833G>T	p.R278L		p.R278L	Jiangxi	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.1271-1275delAAAGA	p.K424RfsX20	p.K424RfsX20			N/A	N/A	Prediction disease causing	N/A	0.000472233	10/21176
P10	c.1296A>T	p.K432N	p.K432N		Henan	Deleterious	Damaging	Disease causing	23.7	N/A	N/A
	c.1672C>T	p.Q558X		p.Q558X		N/A	N/A	Prediction disease causing	40.0	N/A	N/A
P11	c.833G>T	p.R278L		p.R278L	Henan	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.34T>A	p.S12T	p.S12T			Neutral	Damaging	Disease causing	21.1	0.00056679	12/21176
	c.2710C>T	p.Q904X	p.Q904X			N/A	N/A	Disease causing	38.0	N/A	N/A
P12	c.833G>T	p.R278L		p.R278L	Hubei	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.1271-1275delAAAGA	p.K424RfsX20	p.K424RfsX20			N/A	N/A	Prediction disease causing	N/A	0.000472233	10/21176
P13	c.833G>T	p.R278L		p.R278L	Guizhou	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	loss exon2	loss exon2				N/A	N/A	N/A	N/A	N/A	N/A
P14	c.980T>G	p.I327S		p.I327S	Henan	Deleterious	Tolerated	Disease causing	26.7	N/A	N/A
	c.2585_2586del	p.H862RfsX6	p.H862RfsX6			N/A	N/A	Prediction disease causing	N/A	N/A	N/A
P15	c.833G>T	p.R278L	p.R278L		Hunan	Deleterious	Damaging	Disease causing	26.0	0.00028334	6/21176
	c.1271-1275delAAAGA	p.K424RfsX20		p.K424RfsX20		N/A	N/A	Prediction disease causing	N/A	0.000472233	10/21176

N/A, not available.