HNPCC |
J/8 |
hMLH1
| Intron 8 | G>A; nt 677+1 | Affects splice donor site | Unknown | Novel |
J/42 |
hMLH1
| Exon 16, codon 616 | Del AAG; nt 1846 | Frameshift | Deleterious | Hamilton et al18 |
| | | | | | Miyaki et al19 |
J/35 |
hMLH1
| Exon 16, codon 622 | T>A; nt 1865 | Single AA substitution Leu>Hys | Unknown | Novel |
HNPCC-like |
J/39 |
hMLH1
| Intron 1 | del AGTAG; nt 207; −44 | Does not affect splicing | Unknown | Novel |
J/9 |
hMLH1
| Exon 2, codon 67 | G>A; nt 199; | Single AA substitution Gly>Arg | Deleterious | Tannergard et al29 |
J/38 |
hMLH1
| Exon 14, codon 555 | Ins AAGT; nt 1664 | Stop codon | Probably deleterious | Novel |
J/56 |
hMLH1
| Exon 19, codon 714 | G>A; nt 2141 | Stop codon | Deleterious | Froggatt et al30 |
| | | | | | Hutter et al31 |