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Table 3 DICER1 variants observed in 43 TGCT probands studied 14 samples had no SNPs

From: Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours

Variant

Predicted function

 

Number of cases

c.1377-25 T > A

Likely non-pathogenic

Previously reported

1****

c.1509 + 32A > G, rs144973109

Likely non-pathogenic

Previously reported

2

c.1907 + 43C > T, rs11624081

Likely non-pathogenic

Previously reported

6*

c.1907 + 105C > T, rs2275182

Likely non-pathogenic

Previously reported

2*

c.1935G > A p.P645P, rs61751177

Likely non-pathogenic

Previously reported

2§

c.2041-91A > G, rs2297730

Likely non-pathogenic

Previously reported

6, 1***, 1§§§

c.2116 + 59insA

Likely non-pathogenic

Novel

1***

c.2116 + 65A > T, rs187825570

Likely non-pathogenic

Previously reported

1**

c.2804 + 62C > T, rs117996122

Likely non-pathogenic

Previously reported

1§§

c.2805-129G > A

Likely non-pathogenic

Novel

1

c.2997 T > G p. L999L, rs12018992

Likely non-pathogenic

Previously reported

1***

c.3093 + 178 T > C, rs17091820

Likely non-pathogenic

Previously reported

1***

c.5145C > T p. L1715L, rs139500905

Likely non-pathogenic

Previously reported

1

c.*88 T > A, rs13078

Likely non-pathogenic

Previously reported

15

  1. * one case has s11624081 in addition to this variant, and another has both rs61751177 and s11624081 (i.e. this person carries 3 variants).
  2. ** has both rs2297730 and rs13078 in addition to this variant.
  3. *** has rs2297730, rs17091820, rs12018992 and c.2116 + 59insA (i.e. this person carries 4 variants).
  4. **** has rs144973109 and rs2297730 in addition to this variant.
  5. § one case has both rs2275182 and rs11624081 in addition to this variant (i.e. this person carries 3 variants), and one case has rs13078 in addition to this variant.
  6. §§ has rs13078 in addition to this variant.
  7. §§§ has rs13078 in addition to this variant.