Polish and Baltic States families with MSH2 and MLH1 germline mutations and rare exonic variants of unknown significance
| Case No/family ID | Gene/exon or intron change | Position of nucleotide | Consequence |
|---|---|---|---|
| *From Lithuania. | |||
| †From Estonia. | |||
| Bold: mutations not found previously in other populations. | |||
| 1/9154 | MSH2/2 | c.del273TCT | 92delL |
| 2/1524 | MSH2/3 | c.613G>T | E205X |
| 3/1882 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 4/4814 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 5/5888 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 6/6797 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 7/LT7* | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 8/15105 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 9/17237 | MSH2/SD5 | c.942+3a>t | In frame del exon 5 |
| 10/1296 | MSH2/7 | c.1216C>T | R406X |
| 11/6474 | MSH2/7 | c.1216C>T | R406X |
| 12/7167 | MSH2/SD10 | c.1661+5g>c | Out of frame del exon10 |
| 13/6609 | MSH2/12 | c.1771-1772insA | Frameshift |
| 14/6506 | MSH2/13 | c.2131C>T | R711X |
| 15/6810 | MSH2/SD13 | c.2210+1g>c | Out of frame del exon13 |
| 16/3213 | MSH2/14 | c.2388delT | Frameshift |
| 17/2796 | MLH1/1 | c.37delG | Frameshift |
| 18/7640 | MLH1/1 | c.83C>T | P28L |
| 19/6353 | MLH1/1 | c.83C>T | P28L |
| 20/8162 | MLH1/2 | c.184C>T | Q62X |
| 21/2575 | MLH1/4 | c.350C>T | T117M |
| 22/2683 | MLH1/4 | c.356-357insAA | Frameshift |
| 23/4370 | MLH1/SD8 | c.677G>T | Splice |
| 24/4102 | MLH1/10 | c. 883delAGgt | Out of frame del exon10 |
| 25/6774 | MLH1/SD12 | c.1409+1g>c | Splice |
| 26/7576 | MLH1/13 | c.1489-1490insC | Frameshift |
| 27/7848 | MLH1/14 | c.1668delCCA | 553delT |
| 28/6434 | MLH1/15 | c.1672G>T | E558X |
| 29/1821 | MLH1/18 | c.2041G>A | A681T |
| 30/1881 | MLH1/18 | c.2041G>A | A681T |
| 31/7266 | MLH1/18 | c.2041G>A | A681T |
| 32./6802 | MLH1/18 | c.2041G>A | A681T |
| 33/8998 | MLH1/18 | c.2041G>A | A681T |
| 34/ LT-11* | MLH1/18 | c.2041G>A | A681T |
| 35/6609 | MSH2/15 | c.2558A>C | E853A pathogenic? |
| 36/ A1127† | MLH1/1 | c.55A>T | I19F pathogenic? |
| 37/9855 | MLH1/10 | c.875T>C | L292P pathogenic? |
| 38/10388 | MLH1/10 | c.875T>C | L292P pathogenic? |
| 39/3412 | MLH1/18 | c.2059C>T | R687W pathogenic? |