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

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]