Table 3 Genetic spectrum and allele frequency of likely pathogenic GALT variations in 34 Korean GALT-deficient galactosemia patients

Exon 2

c.92A > G

p.His31Arg

1

Ko et al. [14]

Exon 3

c.302C > A

p.Ala101Asp

1

This study, novel

Exon 4

c.346C > A

p.Leu116Ile

2

Ko et al. [14], this study

Exon 5

c.493 T > C

p.Tyr165His

1

This study, novel

Exon 5

c.507G > C

p.Gln169His

5

Ko et al. [14], Lee et al. [15]

Exon 6

c.557A > C

p.His186Pro

3

Ko et al. [14]

Exon 7

c.602G > A

p.Arg201His

2

Ko et al. [14], this study

Exon 8

c.769C > A

p.Pro257Thr

1

This study, novel

Exon 10

c.940A > G

p.Asn314Asp*

18

Ko et al. [14], this study

Exon 10

c.998G > A

p.Arg333Gln

3

This study^†

Exon 11

c.1087G > A

p.Glu363Lys

2

Lee et al. [15], this study

Exon 3

c.286_299delGACAACGACTTCCC

p.Asp96Serfs*5

2

This study, novel

Exon 9

c.826_827delinsAA

p.Ala276Asn

1

This study, novel

Exon 10

c.999G > A

p.Arg333=

1

Ko et al. [14]

IVS 2

c.252 + 1G > A

Exon 2 deletion

3

Lee et al. [15]

IVS 6

c.565-2A > G

Exon 7 deletion

1

Ko et al. [14]

IVS 8

c.821-7A > G

Exon 9 deletion

3

Ko et al. [14], this study

IVS 4

c.378-1G > C

p.?

1

This study, novel

IVS 1

c.82 + 20_82 + 60del

p.?

1

This study, novel^‡