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Table 2 SDHB, SDHC, and SDHD polymorphisms identified in Danish patients with neuroendocrine cancer

From: Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Gene

Nucleotide

Protein

Frequency (ESP)a

Frequency (ExAC)b

SDHB

c.18C > A

p.Ala6Ala

2.70 %

2.99 %

SDHB

c.24C > Tc

p.Ser8Ser

0.76 %

0.65 %

SDHB

c.200 + 33G > A

-

7.79 %

8.42 %

SDHB

c.200 + 35G > A

-

3.74 %

3.93 %

SDHB

c.201-36G > T

-

97.38 %

96.99 %

SDHB

c.487T > C

p.Ser163Pro

1.30 %

1.52 %

SDHC

c.20 + 11_20 + 12dup

-

6.25 %

6.37 %

SDHC

c.77 + 36T > A

-

2.08 %

2.44 %

SDHC

c.77 + 43del

-

-

3.15 %

SDHC

c.77 + 48C > T

-

5.31 %

4.69 %

SDHC

c.406-14del

-

-

41.08 %

SDHD

c.170-29A > G

-

1.28 %

1.16 %

SDHD

c.204C > T

p.Ser68Ser

1.28 %

1.16 %

SDHD

c.315-32T > C

-

1.25 %

1.17 %

  1. The frequency of the polymorphism was obtained from the Exome Sequencing Project (ESP) among aEuropean American and the Exome Aggregation Consortium (ExAC) databases among bEuropean (Non-Finnish); cObserved in 1.35 % of the Finnish population obtained from the ExAC database