Table 1.

Nuclear genomic point mutations and small-fragment insertion-deletion ariants (SNVs).

Gene	Chromosomal location	Variant information	Zygosity	Disease name	Inheritance mode	Variant origin	Variant classification
MMACHC	chr1: 45974605	NM_015506.3: c.567dup (p.Ile190Tyrfs*13)	Heterozygous	Methylmalonic aciduria and homocystinuria, cblC type [MIM:277400]	AR	Maternal	Pathogenic variant
MMACHC	chr1: 45974647	NM_015506.3: c.609G>A (p.Trp203*)	Heterozygous	Methylmalonic aciduria and homocystinuria, cblC type [MIM:277400]	AR	Paternal	Pathogenic variant