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. 2021 Jul 16;8(7):601. doi: 10.3390/children8070601

Table 1.

Pathogenic or likely pathogenic variants found in Korean or Japanese patients with Pompe disease or in general population databases.

Variant Korean Patients Japanese Patients General Population Databases, MAF
Allele Count [Ref] (HT/HM) Allele Count [Ref] (HT/HM) KRGDB 1 jMorp 2 gnomAD 3, East Asian gnomAD 3, Global
c.-32-13T>G 0 0 0.000342 0 0.000207 0.003401
c.2T>C 0 1 [28] (1/0) 0 0 0 0
c.118C>T (p.Arg40 *) 1 [20] (1/0) 1 [28] (1/0) 0 0 0.000050 0.000014
c.169C>T (p.Gln57 *) 0 1 [28] (1/0) 0 0 0 0
c.307T>C (p.Cys103Arg) 0 0 0 0.000060 0 0
c.309C>A (p.Cys103 *) 0 2 [29] (0/1) 0 0 0 0
c.483dup (p.Lys162Glnfs*15) 0 2 [30] (2/0) 0 0 0 0
c.546G>A (p.Thr182=) 0 0 0 0.000179 0.000102 0.000030
c.546G>T (p.Thr182=) 2 [22] (1/0), [25] (1/0) 27 [28] (6/5), [34] (0/2), [35] (2/1), [36] (1/0), [37] (0/1) 0 0.000119 0 0
c.547-1G>C 0 1 [28] (1/0) 0 0 0 0
c.569G>A (p.Arg190His) 0 1 [28] (1/0) 0 0.000060 0 0.000016
c.655G>A (p.Gly219Arg) 0 1 [28] (1/0) 0 0 0 0.000018
c.670C>T (p.Arg224Trp) 0 1 [31] (1/0) 0 0 0 0.000022
(c.752C>T; c.761C>T) ((p.Ser251Leu; p.Ser254Leu) 0 2 [28] (1/0) 0.005476 0.001850 0.002759 0.000195
c.756_757insT (p.Pro253Serfs*77) 0 1 [28] (1/0) 0 0 0 0
c.796C>T (p.Pro266Ser) 1 [26] (1/0) 2 [28] (2/0) 0 0 0 0
c.841C>T (p.Arg281Trp) 0 0 0 0.000060 0 0.000205
c.875A>G (p.Tyr292Cys) 4 [18] (1/0), [19] (1/0), [21] (1/0), [23] (1/0) 0 0 0 0 0.000008
c.1156C>T (p.Gln386 *) 1 [23] (1/0) 0 0 0 0 0
c.1225dup (p.Asp409Glyfs*97) 1 [20] (1/0) 0 0 0 0 0
c.1309C>T (p.Arg437Cys) 3 [18] (1/0), [19] (1/0), [25] (1/0) 12 [28] (6/0), [33] (2/0), [38] (1/0), [39] (0/1), [40] (1/0) 0 0.000060 0 0.000008
c.1316T>A (p.Met439Lys) 14 [18] (4/0), [19] (1/0), [20] (1/0), [22] (1/0), [23] (1/0), [24] (1/0), [25] (3/0), [26] (2/0) 3 [28] (0/1), [35] (1/0) 0.001027 0 0.000384 0.000028
c.1322_1326+9del 2 [18] (1/0), [19] (1/0) 0 0 0 0 0
c.1447G>A (p.Gly483Arg) 0 0 0 0.000060 0 0.000008
c.1579_1580del (p.Arg527Glyfs*3) 2 [19] (1/0), [20] (1/0) 0 0 0 0 0.000004
c.1582_1583del (p.Gly528Leufs*2) 1 [18] (1/0) 0 0 0 0 0
c.1585_1586delinsGT (p.Ser529Val) 0 7 [32] (2/2), [41] (1/0) 0 0 0 0
c.1696T>C (p.Ser566Pro) 0 4 [28] (2/0), [30] (2/0) 0 0 0 0
c.1735G>A (p.Glu579Lys) 0 2 [28] (1/0), [42] (1/0) 0 0 0 0.000007
c.1798C>T (p.Arg600Cys) 0 20 [28] (7/0), [31] (1/0), [32] (7/1), [35] (2/0), [36] (1/0) 0 0.000239 0 0.000004
c.1822C>T (p.Arg608 *) 6 [18] (2/0), [19] (2/0), [22] (1/0), [24] (1/0) 4 [28] (1/1), [35] (1/0) 0 0 0.000051 0.000018
c.1826dup (p.Tyr609 *) 0 1 [28] (1/0) 0 0 0 0.000008
c.1857C>G (p.Ser619Arg) 7 [20] (1/0), [21] (1/0), [23] (2/0), [24] (1/0), [25] (1/0), [26] (1/0) 15 [28] (4/3), [31] (0/1), [33] (0/1), [42] (1/0) 0.000342 0.000418 0 0
c.1935C>A (p.Asp645Glu) 0 3 [32] (1/1) 0 0 0.001729 0.000124
c.1979G>A (p.Arg660His) 0 2 [31] (2/0) 0 0 0 0.000037
c.2014C>T (p.Arg672Trp) 0 0 0 0.000060 0 0.000008
c.2015G>A (p.Arg672Gln) 5 [20] (1/0), [24] (2/0), [25] (1/0), [26] (1/0) 8 [32] (2/2), [43] (0/1) 0.000343 0 0.000111 0.000021
c.2171C>A (p.Ala724Asp) 3 [18] (1/0), [19] (1/0), [25] (1/0) 0 0 0 0 0
c.2177C>G (p.Pro726Arg) 0 2 [28] (1/0), [40] (1/0) 0 0 0 0
c.2297A>G (p.Tyr766Cys) 0 1 [28] (1/0) 0 0 0 0.000025
c.2238G>C (p.Trp746Cys) 5 [19] (1/0), [22] (1/0), [24] (1/0), [25] (2/0) 0 0.000685 0 0.000351 0.000308
c.2238G>T (p.Trp746Cys) 0 0 0 0.000119 0 0
c.2326C>T (p.Gln776 *) 0 2 [33] (2/0) 0 0 0 0
c.2407_2413del (p.Gln803 *) 1 [23] (1/0) 0 0 0 0 0
c.2481+1G>A 0 1 [28] (1/0) 0 0 0 0
c.2647-7G>A 0 0 0.000342 0.000298 0 0.000018

1 The Korean Reference Genome Database (KRGDB, http://coda.nih.go.kr/coda/KRGDB/index.jsp, accessed on 8 February 2021). 2 The Japanese Multi Omics Reference Panel (jMorp, https://jmorp.megabank.tohoku.ac.jp/202102/variants, accessed on 16 March 2021). 3 The Genome Aggregation Database (gnomAD, https://gnomad.broadinstitute.org/, accessed on 17 March 2021). *, stop codon; Ref, references; HT, heterozygous allele count; HM, homozygous allele count; MAF, minor allele frequency.