Table 1 Pathogenicity for POLD1 variants according to different prediction tools with investigated variants are in bold.

p.G10V

c.29G > T

¹⁷

Unknown (0.398)

Benign (0.041)

Neutral (− 1.407)

Neutral (0.55)

p.V295M

c.883G > A

¹⁶

Unknown (0.703)

Benign (0.410)

Neutral (0.412)

Neutral (0.09)

p.D316H

c.946G > C

¹⁶

Pathogenic (0.941)

Probably damaging (1.000)

Deleterious (− 6.857)

High (3.69)

p.D316G

c.947A > G

¹⁶

Pathogenic (0.919)

Probably damaging (1.000)

Deleterious (− 6.857)

High (3.69)

p.P327L

c.981C > G

¹⁴

Pathogenic (0.947)

Probably damaging (0.999)

Deleterious (− 9.824)

High (3.74)

p.S370R

c.1110C > G

¹⁴

Unknown (0.560)

Benign (0.407)

Deleterious (− 4.259)

Medium (3.115)

p.R409W

c.1225C > T

¹⁶

Pathogenic (0.963)

Probably damaging (1.000)

Deleterious (− 7.859)

High (3.74)

p.G426S

c.1276G > A

¹⁴

Unknown (0.237)

Benign (0.042)

Neutral (− 0.579)

Neutral (− 0.485)

p.L474P

c.1421T > C

^15,16

Pathogenic (0.937)

Probably damaging (1.000)

Deleterious (− 6.735)

High (3.74)

p.S478N

c.1433G > A

^14,15,16

Pathogenic (0.759)

Probably damaging (0.998)

Deleterious (− 2.820)

High (4.215)

p.R506H

c.1517G > A

¹⁷

Pathogenic (0.955)

Possibly damaging (0.755)

Deleterious (− 4.922)

Medium (2.86)

p.R521Q

c.1562G > A

¹⁶

Pathogenic (0.957)

Possibly damaging (0.816)

Deleterious (− 3.464)

Medium (3.255)

p.R689W

c.2065C > T

¹⁷

Pathogenic (0.973)

Probably damaging (0.987)

Deleterious (− 7.978)

High (4.56)

p.S746I

c.2237G > T

¹⁷

Unknown (0.475)

Benign (0.143)

Deleterious (− 3.178)

Medium (2.92)