Table 3 Variants with frequency number > 2 in reported Chinese patients.

From: Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Gene

Nucleotide change

Amino acid change

Number

%

BCKDHB

c.331C>T

p.Arg111Ter

7

9

BCKDHB

c.853C>T

p.Arg285Ter

6

7

BCKDHB

c.508C>T

p.Arg170Cys

3

4

BCKDHB

c.659delA

p.Asp229fs

3

4

DBT

c.75-76delAT

p.Cys26Trpfs*2

3

4

DBT

c.1291C>T

p.Arg431Ter

3

4

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