Table 3 In silico analysis of missense variants in target genes

C-MPL NM_005373.3

c.305G>A

0.00000795

rs28928907

Tolerated

Probably damaging with a score of 0.97 (sensitivity: 0.76; specificity: 0.96)

Disease-causing

c.340G/A

0.0246

rs12731981

Tolerated

Probably damaging with a score of 0.996 (sensitivity: 0.55; specificity: 0.98)

Polymorphism

c.401C>G

Not detected

Novel

Tolerated

Probably damaging with a score of 0.008 (sensitivity: 0.96; specificity: 0.48)

Polymorphism

c.1589C>T

0.000797

Novel

Damaging

Probably damaging with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)

Disease-causing

c.1631G>A

Not detected

Novel

Tolerated

Benign score 0.015 (sensitivity: 0.69; specificity: 0.79)

Polymorphism

TERT NM_198253.3

c.484G>A

Not detected

Novel

Damaging

Probably damaging with a score of 0.99 (sensitivity: 0.14, specificity: 0.99)

Disease-causing

C.499G>A

Not detected

Novel

Tolerated

Probably damaging with a score of 0.91 (sensitivity: 0.81; specificity: 0.94)

Polymorphism

c.512G>A

Not detected

Novel

Damaging

Possibly damaging score 0.61 (sensitivity: 0.87; specificity: 0.91)

Disease-causing

C.761G>A

Not detected

Novel

Tolerated

Benign score 0.118 (sensitivity: 0.93; specificity: 0.86)

Polymorphism

c.835 G>A

0.0225

rs61748181

Tolerated

Probably damaging with a score of 0.98 (sensitivity: 0.75; specificity: 0.96)

Disease-causing

c.1336C>G

0.000841

rs567650961

Tolerated

Benign score 0.021 (sensitivity: 0.95; specificity: 0.80)

Polymorphism

c.3164C>G

Not detected

Novel

Damaging

Probably damaging with a score of 0.99 (sensitivity: 0.14; specificity: 0.99)

Polymorphism