. 2018 Jan 8;53(8):907–915. doi: 10.1007/s00535-017-1426-y

Table 1.

Identified SLCO2A1 gene mutations in 46 patients with CEAS

No.	Genomic position chr3 (hg19)	Site	Nucleotide change	Predicted effect		Mutant allele frequency	dbSNP	Mutant allele frequency^b
1	133,698,462	Exon 2	c.97G > C	p.V33L	Deleterious^a	1/92	–	0
2	133,674,014	Exon 4	c.421G > T	p.E141X	Truncated	2/92	–	1/2198 (0.045%)
3	133,673,888	Exon 4	c.547G > A	p.G183R	Deleterious^a	1/92	–	0
4	133,672,567	Exon 5	c.664G > A	p.G222R	Deleterious^a	6/92	–	1/2192 (0.046%)
5	133,670,143	Exon 6	c.770G > A	p.W257X	Truncated	1/92	–	0
6	133,670,083	Exon 7	c.830dupT	p.F277Lfs^a17	Truncated	6/92	rs751192029	1/2280 (0.044%)
7	133,670,083	Exon 7	c.830delT	p.F277Sfs^a6	Truncated	1/92	rs765906270	0
8	133,667,736	Intron 7	c.940 + 1G > A	Splice site	Truncated	50/92	rs765249238	2/2188 (0.091%)
9	133,664,028	Exon 10	c.1372G > T	p.V458F	Deleterious^a	2/92	–	0
10	133,663,938	Intron 10	c.1461 + 1G > C	Splice site	Truncated	2/92	–	0
11	133,654,625	Exon 13	c.1807C > T	p.R603X	Truncated	20/92	rs776813259	0

^aMutation pathogenicity according to SIFT, PolyPhen-2, and PROVEAN

^bData from the Human Genetic Variation Database (HGVD) for the Japanese population (version 2.1)