| 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 |
| Gene | Large deletion/duplication | Detection Method | Reported | Case Number | Carrier Number | Original References |
|---|---|---|---|---|---|---|
| MLH1 | Dup exon 1 | MLPA | InSiGHT | 100 | 1 | 23 |
| MLH1 | Dup exon 3 | MLPA | 100 | 1 | 23 | |
| MLH1 | Dup exon 19 | DHPLC | 100 | 1 | 23 | |
| MLH1 | Del exon 1 | MLPA | InSiGHT | 100 | 1 | 23 |
| MLH1 | Del exon 4 | NGS | 256 | 1 | 130 | |
| MLH1 | Del exon 5 | DHPLC|MLPA|Sanger | 1,014 | 1 | 100 | |
| MLH1 | Del exon 10 | MLPA | 64 | 1 | 95 | |
| MLH1 | Del exon 13 | DHPLC|MLPA|Sanger|NGS | 1,270 | 2 | 100, 130 | |
| MLH1 | Del exon 16 | MLPA | 64 | 1 | 95 | |
| MLH1 | Del exon 5-6 | InSiGHT | 131 | |||
| MLH1 | Del exon 4-9 | NGS | 256 | 1 | 130 | |
| MLH1 | Del exon 10-11 | InSiGHT | 131 | |||
| MLH1 | Del exon 16-17 | DHPLC|MLPA | InSiGHT | 64 | 1 | 95 |
| MLH1 | Del exon 11-15 | DHPLC|MLPA|Sanger | 1,107 | 8 | 67, 100 | |
| MLH1 | Del exon 17-19 | DHPLC|NGS | 349 | 2 | 67, 130 | |
| MLH1 | Del exon 16-19 | DHPLC|MLPA|Sanger | InSiGHT | 1,014 | 1 | 100 |
| MLH1 | 21bp insertion | 22 | ||||
| MLH1 | 21bp deletion | 22 | ||||
| MLH1 | 24 bp deletion | RT-PCR|Sanger | 4 | 1 | 7, 22 | |
| MLH1 | 1.8kb deletion | Sanger | 12 | 2 | 6 | |
| MLH1 | 5.2kb deletion | DHPLC|Sanger | 266 | 1 | 10 | |
| MSH2 | Dup exon 13 | NGS | 256 | 1 | 130 | |
| MSH2 | Del exon 1 | DHPLC|MLPA|Sanger|NGS | InSiGHT | 2,819 | 6 | 67, 100, 119, 130 |
| MSH2 | Del exon 2 | MLPA|Sanger | 1,456 | 1 | 119 | |
| MSH2 | Del exon 3 | MLPA|Sanger | 1,456 | 1 | 119 | |
| MSH2 | Del exon 4 | DHPLC|MLPA|Sanger | 2,627 | 5 | 67, 95, 100, 119 | |
| MSH2 | Del exon 5 | MLPA|Sanger | 1,456 | 1 | 119 | |
| MSH2 | Del exon 6 | MLPA|Sanger | 1,456 | 1 | 119 | |
| MSH2 | Del exon 7 | DHPLC|MLPA|Sanger|NGS | 256 | 4 | 23, 57, 67, 100, 130 | |
| MSH2 | Del exon 8 | DHPLC|MLPA|Sanger | 1,534 | 8 | 35, 67, 68, 89, 95, 100 | |
| MSH2 | Del exon 9 | MLPA|Sanger | 140 | 3 | 57, 95 | |
| MSH2 | Del exon 10 | MLPA|NGS | 320 | 2 | 95, 130 | |
| MSH2 | Del exon 11 | DHPLC|MLPA|Sanger | 1,258 | 4 | 23, 29, 67, 100 | |
| MSH2 | Del exon 12 | Sanger | 427 | 1 | 59 | |
| MSH2 | Del exon 14 | Sanger | 76 | 1 | 57 | |
| MSH2 | Del exon 15 | NGS | 256 | 1 | 130 | |
| MSH2 | Del exon 16 | Sanger | 76 | 1 | 57 | |
| MSH2 | Del exon 1-2 | InSiGHT | 131 | |||
| MSH2 | Del exon 1-4 | Sanger | InSiGHT | 427 | 1 | 59 |
| MSH2 | Del exon 1-6 | DHPLC|MLPA|Sanger | InSiGHT | 631 | 8 | 35, 67, 68, 89, 98, 101, 131 |
| MSH2 | Del exon 1-7 | DHPLC|MLPA|Sanger | InSiGHT | 559 | 13 | 23, 28, 29, 35, 55, 68, 89, 100 |
| MSH2 | Del exon 1-8 | Sanger | InSiGHT | 138 | 2 | 96, 102 |
| MSH2 | Del exon 2-6 | MLPA|Sanger | InSiGHT | 151 | 2 | 23, 29 |
| MSH2 | Del exon 4-5 | Sanger | InSiGHT | 503 | 1 | 57, 59 |
| MSH2 | Del exon 5-6 | InSiGHT | 131 | |||
| MSH2 | Del exon 6-8 | InSiGHT | 131 | |||
| MSH2 | Del exon 3/9 | MLPA | 64 | 1 | 95 | |
| MSH2 | Del exon 9-10 | DHPLC|MLPA|Sanger | 1,107 | 2 | 67, 100 | |
| MSH2 | Del exon 9-14 | MLPA | 100 | 1 | 23 | |
| MSH2 | 21bp insertion | 22 | ||||
| MSH6 | Del exon 5-9 | MLPA|NGS | 32 | 6 | 127 | |
| MSH6 | Dup exon 8-10 | NGS | 256 | 1 | 130 | |
| PMS2 | Del exon 11 | NGS | 256 | 1 | 130 |