Table 3.
Gene | Exon | Nucleotide | Change | Codon | Name | DNA no. | In database* |
---|---|---|---|---|---|---|---|
MLH1 | 4 | 5′ Intron | C>A | IVS3−29 C>A | 7 | Yes | |
5 | 5′ Intron | A>G | IVS5+28 A>G | 7 | No | ||
6 | 474 | C>T | 158 | N158N | 18 | No | |
7 and 8 | 655 | A>G | 219 | I219V | 6 | Yes | |
13 | 3′ Intron | G>A | IVS13+14 G>A | 2, 4 | Yes | ||
13 | 5′ Intron | C>T | IVS12−54 C>T | 7 | No | ||
15 | 5′ Intron | A>G | IVS14−19 A>G | 21 | No | ||
19 | 2152 | C>T | 718 | H718Y | 20, 21, 18 | Yes | |
MSH2 | 2 | 5′ Intron | C>G | IVS2−8C>G | 634 | No | |
6 | 965 | G>A | 322 | G322D | 19 | Yes | |
7 | 5′ Intron | T>C | IVS7−10 T>C | 21 | Yes | ||
10 | 3′ Intron | G>A | IVS10+12 G>A | 21 | Yes | ||
10 | 5′ Intron | A>T | IVS10−9 A>T | 21 | Yes | ||
13 | 5′ Intron | T>C | IVS13−6 T>C | 6, 19, 21 | Yes | ||
MSH6 | 1 | 116 | G>A | 39 | G39E | 0222 | Yes |
1 | 186 | C>A | 62 | R62R | 0222 | Yes | |
2 | 276 | A>G | 92 | P92P | 634 | Yes | |
3 | 540 | T>C | 180 | N180N | 634 | Yes | |
5 | 3′ Intron | T>A | IVS5+14 T>A | 007 | Yes | ||
6 | 3513 | T>C | 1171 | N1171N | 005 | No | |
7 | 5′ Intron | PolyT variable | IVS6−9polyT | 0222 | No |
Database: InSIGHT (www.insight-group.org).