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Table 5 Variants classified as ULS showing polymorphism or normal IHC and MSS

From: CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein

No

Variant

Definition of ULSa

Polymorphism

MLH1

MSH2

MSH6

MSI

References

20

K13T

3

<0.01

Normal

Normal

Normal

S

[[49]]

21

A25V

1

≥0.01

ND

ND

ND

ND

db S NP, 1000 Genomes

22

G39E

1

≥0.01

ND

ND

ND

ND

db S NP, 1000 Genomes

23

G54A

3

NA

Normal

Normal

Normal

S

[[51]]

24

S65L

3

<0.01

Normal

Normal

Normal

S

[[49]]

25

C196F

1

≥0.01

ND

ND

ND

ND

db S NP, 1000 Genomes

26

R468H

3

<0.01

Normal

Normal

Normal

S

[[49]]

27

S503C

3

<0.01

Normal

Normal

Normal

S

[[49]]

28

R635G

3

NA

Normal

Normal

Normal

S

[[52]]

29

l886V

1

≥0.01

ND

ND

ND

ND

1000 Genomes

30

l1054F

3

NA

Normal

Normal

Normal

S

[[34]]

31

E1163V

1

≥0.01

ND

ND

ND

ND

1000 Genomes

32

E1196K

1

≥0.01

ND

ND

ND

ND

db S NP 1000 Genomes

33

E1234Q

1

≥0.01

ND

ND

ND

ND

db S NP 1000 Genomes

34

E1304K

1

≥0.01

ND

ND

ND

ND

1000 Genomes

  1. Abbreviations: NA; Not available, ND, Not done, S, Microsatellite stable.
  2. a See Table 1.