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| Gene | Variant Impact | Case Number | Carrier Number | Rate (%) | HGVS cDNA | HGVS Protein | Reported | Mutation Type |
| MLH1 |
Pathogenic |
158 |
5 |
3.2 |
c.1588_1590delTTC |
p.Phe530del |
ClinVar|InSiGHT |
Inframe Variant |
| MLH1 |
Pathogenic |
127 |
4 |
3.1 |
c.1163_1164insT |
p.Arg389Profs |
InSiGHT |
Frameshift insertion |
| MLH1 |
Pathogenic |
429 |
13 |
3 |
c.265G>T |
p.Glu89Ter |
ClinVar|InSiGHT |
Nonsense |
| MLH1 |
Pathogenic |
172 |
5 |
2.9 |
c.243_244insA |
p.Thr82Asnfs |
ClinVar|InSiGHT |
Frameshift insertion |
| MLH1 |
Pathogenic |
371 |
10 |
2.7 |
c.199G>A |
p.Gly67Arg |
ClinVar|COGR|InSiGHT|COSMIC |
Missense |
| MLH1 |
Pathogenic |
315 |
8 |
2.5 |
c.1852delAAG |
p.Lys618del |
ClinVar|COGR|gnomAD|ExAC|InSiGHT|UMD|COSMIC |
Inframe variant |
| MLH1 |
Pathogenic |
196 |
4 |
2 |
c.2157dupT |
p.Val720Cysfs |
ClinVar|InSiGHT |
Frameshift insertion |
| MLH1 |
Pathogenic |
245 |
3 |
1.2 |
c.1591_1592del |
p.Val531Glyfs |
ClinVar|InSiGHT |
Frameshift deletion |
| MLH1 |
Pathogenic |
633 |
7 |
1.1 |
c.1459C>T |
p.Arg487Ter |
ClinVar|COGR|InSiGHT|COSMIC |
Nonsense |
| MLH1 |
Likely pathogenic |
188 |
2 |
1.1 |
c.453+1G>T |
- |
ClinVar|COGR|InSiGHT |
Splice site |
| MLH1 |
Pathogenic |
196 |
2 |
1 |
c.157_160delGAGG |
p.Gly54Alafs |
- |
Frameshift deletion |
| MSH2 |
Likely pathogenic |
1,200 |
42 |
3.5 |
c.943-1G>A |
- |
ClinVar|InSiGHT|COSMIC |
Splice site |
| MSH2 |
Pathogenic |
292 |
10 |
3.4 |
c.595T>C |
p.Cys199Arg |
ClinVar|InSiGHT|UMD|COSMIC |
Missense |
| MSH2 |
Likely pathogenic |
559 |
13 |
2.3 |
Del exon 1-7 |
- |
- |
- |
| MSH2 |
Likely pathogenic |
140 |
3 |
2.1 |
Del exon 9 |
- |
- |
- |
| MSH2 |
Likely pathogenic |
118 |
2 |
1.7 |
c.1277-1G>A |
- |
ClinVar|InSiGHT|COSMIC |
Splice site |
| MSH2 |
Pathogenic |
316 |
5 |
1.6 |
c.1738G>T |
p.Glu580Ter |
ClinVar|InSiGHT|COSMIC |
Nonsense |
| MSH2 |
Pathogenic |
316 |
5 |
1.6 |
c.1760delG |
p.Gly587Alafs |
ClinVar|InSiGHT |
Frameshift deletion |
| MSH2 |
Likely pathogenic |
256 |
4 |
1.6 |
Del exon 7 |
- |
- |
- |
| MSH2 |
Pathogenic |
2,371 |
33 |
1.4 |
c.1457_1460delATGA |
p.Asn486Thrfs |
ClinVar|COGR|InSiGHT |
Frameshift deletion |
| MSH2 |
Pathogenic |
138 |
2 |
1.4 |
c.1664delA |
p.Lys555fs |
InSiGHT |
Frameshift deletion |
| MSH2 |
Pathogenic |
285 |
4 |
1.4 |
c.513delG |
p.Lys172Asnfs |
ClinVar|InSiGHT |
Frameshift deletion |
| MSH2 |
Likely pathogenic |
138 |
2 |
1.4 |
Del exon 1-8 |
- |
- |
- |
| MSH2 |
Likely pathogenic |
631 |
8 |
1.3 |
Del exon 1-6 |
- |
- |
- |
| MSH2 |
Likely pathogenic |
151 |
2 |
1.3 |
Del exon 2-6 |
- |
- |
- |
| MSH2 |
Pathogenic |
341 |
4 |
1.2 |
c.2038C>T |
p.Arg680Ter |
ClinVar|COGR|gnomAD|ExAC|InSiGHT|UMD|COSMIC |
Nonsense |
| MSH2 |
Pathogenic |
245 |
3 |
1.2 |
c.2292G>A |
p.Trp764Ter |
ClinVar|InSiGHT |
Nonsense |
| MSH2 |
Pathogenic |
279 |
3 |
1.1 |
c.1147C>T |
p.Arg383Ter |
ClinVar|InSiGHT|UMD|COSMIC |
Nonsense |
| MSH2 |
Likely pathogenic |
492 |
5 |
1 |
c.2211-2A>C |
p.Thr8Arg |
ClinVar|InSiGHT |
Splice site |
