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Table 2 Genotypes of 42 patients with the late onset cblC defect

From: Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Allele 1 Allele 2 N Reference
Nucleotide change Amino acid change Exon Nucleotide change Amino acid change Exon
c.271dupA p.Arg91Lysfs*14 2 c.271dupA p.Arg91Lysfs*14 2 1 [4]
c.271dupA p.Arg91Lysfs*14 2 c.276G > T p.Glu92Asp 2 2 [13]
c.271dupA p.Arg91Lysfs*14 2 c.82-9_12delTTTC r.spl? Intron 1 1 [4]
c.271dupA p.Arg91Lysfs*14 2 c.347 T > C p.Leu116Pro 3 3 [4],[22]
c.271dupA p.Arg91Lysfs*14 2 c.365A > G p.His122Arg 3 1 [24]
c.271dupA p.Arg91Lysfs*14 2 c.389A > G p.Tyr130Cys 3 1 [25]
c.271dupA p.Arg91Lysfs*14 2 c.394C > T p.Arg132* 3 1 [4]
c.271dupA p.Arg91Lysfs*14 2 c.440G > C p.Gly147Ala 4 2 [28]
c.271dupA p.Arg91Lysfs*14 2 c.482G > A p.Arg161Gln 4 2 [26],[29]
c.271dupA p.Arg91Lysfs*14 2 c.565C > A p.Arg189Ser 4 1 [24]
c.271dupA/c.565C > A p.Arg91Lysfs*14/ 2 c.565C > A p.Arg189Ser 4 1 [4]
c.276G > A p.Glu926Glu [p.(=)] 2 c.442_444delinsA p.Val148Metfs*33 4 1 [13]
c.276G > A p.Glu926Glu [p.(=)] 2 c.14_24del11 p.Val5Glufs*25 1 1 [13]
c.276G > T p.Glu92Asp 2 c.276G > T p.Glu92Asp 2 1# -
c.276G > T p.Glu92Asp 2 c.442_444delinsA p.Val148Metfs*33 4 1 [14]
c.347 T > C p.Leu116Pro 3 c.347 T > C p.Leu116Pro 3 1#  
c.365A > G p.His122Arg 3 c.457C > T p.Arg153* 4 1 [24]
c.392_394del p.Gln131del 3 c.392_394del p.Gln131del 3 1 [27]
c.394C > T p.Arg132* 3 c.394C > T p.Arg132* 3 7 [4],[16],[19]
c.394C > T p.Arg132* 3 c.468_469delCT p.Trp157Valfs*24 4 1 [4]
c.464G > A p.Gly155Glu 4 c.464G > A p.Gly155Glu 4 1 [13]
c.482G > A p.Arg161Gln 4 c.82-1G > A r.spl? Intron 1 1# -
c.482G > A p.Arg161Gln 4 c.609G > A p.Trp203* 4 2 [18]
c.484G > T p.Gly162Trp 4 c.484G > T p.Gly162Trp 4 1 [12]
c.609G > A p.Trp203* 4 c.609G > A p.Trp203* 4 2 [7]
c.609G > A p.Trp203* 4 c.394C > T p.Arg132* 3 1 [7]
c.609G > A p.Trp203* 4 c.658_660delAAG p.Lys220del 4 1 [7]
c.609G > A p.Trp203* 4 c.1A > G p.Met1? 1 1 [18]
c.1A > G p.Met1? 1 n.d.    1 [7]
  1. #new reported cases; n.d. = not detected.