Table 3. Multiple Nucleotide Variants found in the re-analysed data from the diagnostic panel to be incorrectly annotated as separate variants.

Gene	Wild-type codon	Variant codon	GATK best practices annotation 1	GATK best practices annotation 2	Correct annotation
INSR	GCC	TTC	p.Ala752Val	p.Ala752Ser	p.Ala752Phe
EIF2AK3	GAT	TCT	p.Asp615Ala	p.Asp615Tyr	p.Asp615Ser
GCK	GAG	AGG	p.Glu421Gly	p.Glu421Lys	p.Glu421Arg
GCK	TAC	CAA	p.Tyr61*	p.Tyr61His	p.Tyr61Gln