Table 1 Open in new tab Presence and...

Table 1

Presence and frequency of UNC13B variants in gnomAD, dbSNP and other databases

dbSNP	Transcript^a	Protein	gnomAD^b		gnomAD^c		Other Databases
			‘Control-only’ alleles (frequency)		All alleles (frequency)		Alleles (frequency) database
			All populations	East Asian subjects	All populations	East Asian subjects	Alleles (frequency) database
rs1564081215	c.135G > A	p.Trp45X	0	0	1 (A = 0.000003986)	0	0
rs780641411	c.4008+1G > T	–	2 (T = 0.00001828)	2 (T = 0.0002211)	4 (T = 0.00001591)	4 (T = 0.0002175)	2 (T = 0.000016) ExAC
N/A	c.4330+7G > A	–	0	0	0	0	0
rs140811719	c.308C > T	p.Thr103Met	15 (T = 0.0001248)	11 (T = 0.001106)	30 (T = 0.0001062)	22 (T = 0.001104)	18 (T = 0.000068) TOPMED	2 (T = 0.0004) 1000G^h
							16 (T = 0.000132) ExAC	1 (T = 0.0003) TWINSUKⁱ
							18 (T = 0.00023) PAGE^d	11 (T = 0.0038) KOREAN
							19 (T = 0.00113) KJPN^e	3 (T = 0.0016) Korea1K^j
							1 (T = 0.00007) ALFA^f	1 (T = 0.005) Vietnamese
							1 (T = 0.00008) GO-ESP^g
rs373846094	c.662G > A	p.Arg221Gln	5 (A = 0.00004571)	1 (A = 0.0001106)	7 (A = 0.00002784)	1 (A = 0.00005439)	8 (A = 0.00048) KJPN^e
							3 (A = 0.0010) KOREAN
rs770750153	c.1190C > T	p.Ser397Phe	2 (T = 0.00001663)	2 (T = 0.0002008)	3 (T = 0.00001061)	3 (T = 0.0001504)	2 (T = 0.0000008) TOPMED
							1 (T = 0.0000008) ExAC
rs371965791	c.1981C > T	p.Arg661Cys	5 (T = 0.00004571)	2 (T = 0.0002211)	13 (T = 0.00005174)	8 (T = 0.0004351)	8 (T = 0.000066) ExAC
							2 (T = 0.00015) GO-ESP^g
							1 (T = 0.00006) KJPN^e
							1 (T = 0.00003) ALFA^f
N/A	c.2381G > A	p.Gly794Asp	0	0	0	0	0
rs1037446397	c.2644G > T	p.Gly882Trp	0	0	1 (T = 0.00003184)	1 (T = 0.0006410)	1 (T = 0.000004) TOPMED
					Total alleles: 59	Total alleles: 39

dbSNP	Transcript^a	Protein	gnomAD^b		gnomAD^c		Other Databases
			‘Control-only’ alleles (frequency)		All alleles (frequency)		Alleles (frequency) database
			All populations	East Asian subjects	All populations	East Asian subjects	Alleles (frequency) database
rs1564081215	c.135G > A	p.Trp45X	0	0	1 (A = 0.000003986)	0	0
rs780641411	c.4008+1G > T	–	2 (T = 0.00001828)	2 (T = 0.0002211)	4 (T = 0.00001591)	4 (T = 0.0002175)	2 (T = 0.000016) ExAC
N/A	c.4330+7G > A	–	0	0	0	0	0
rs140811719	c.308C > T	p.Thr103Met	15 (T = 0.0001248)	11 (T = 0.001106)	30 (T = 0.0001062)	22 (T = 0.001104)	18 (T = 0.000068) TOPMED	2 (T = 0.0004) 1000G^h
							16 (T = 0.000132) ExAC	1 (T = 0.0003) TWINSUKⁱ
							18 (T = 0.00023) PAGE^d	11 (T = 0.0038) KOREAN
							19 (T = 0.00113) KJPN^e	3 (T = 0.0016) Korea1K^j
							1 (T = 0.00007) ALFA^f	1 (T = 0.005) Vietnamese
							1 (T = 0.00008) GO-ESP^g
rs373846094	c.662G > A	p.Arg221Gln	5 (A = 0.00004571)	1 (A = 0.0001106)	7 (A = 0.00002784)	1 (A = 0.00005439)	8 (A = 0.00048) KJPN^e
							3 (A = 0.0010) KOREAN
rs770750153	c.1190C > T	p.Ser397Phe	2 (T = 0.00001663)	2 (T = 0.0002008)	3 (T = 0.00001061)	3 (T = 0.0001504)	2 (T = 0.0000008) TOPMED
							1 (T = 0.0000008) ExAC
rs371965791	c.1981C > T	p.Arg661Cys	5 (T = 0.00004571)	2 (T = 0.0002211)	13 (T = 0.00005174)	8 (T = 0.0004351)	8 (T = 0.000066) ExAC
							2 (T = 0.00015) GO-ESP^g
							1 (T = 0.00006) KJPN^e
							1 (T = 0.00003) ALFA^f
N/A	c.2381G > A	p.Gly794Asp	0	0	0	0	0
rs1037446397	c.2644G > T	p.Gly882Trp	0	0	1 (T = 0.00003184)	1 (T = 0.0006410)	1 (T = 0.000004) TOPMED
					Total alleles: 59	Total alleles: 39

N/A = not applicable.

Canonical transcript: ENST00000378495.7 (CCDS6579).

gnomAD v2.1.1 ‘Control-only’ subjects (n = 60 146)—analysed by Wang et al.¹

all gnomAD v2.1.1 subjects (n = 141 456).

The Population Architecture using Genomics and Epidemiology (PAGE) study.

ToMMo 8.3KJPN Japanese Allele Frequency Panel.

NCBI Allele Frequency Aggregator.

NHBLI GO Exome Sequencing Project.

1000 Genomes Project.

ⁱ

TwinsUK Cohort.

Korean Genome Project.