Mutation | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
No | Sex | Size (cm) | Type | Site | Dysplasia | IHC | LOH | Location | Codon | Nucleotide change | Consequence |
ICsm0997 | F | 3.0 | T | R | Moderate | + | − | – | |||
ICsm0656 | F | 0.6 | T | R | Moderate | + | − | – | |||
ICsm0677 | F | 1.3 | T | R | Moderate | + | − | – | |||
ICsm1231 | M | 1.8 | T | S | Moderate | ++ | − | – | |||
ICsm1131 | F | 2.2 | T | S | Severe | +++ | − | – | |||
ICsm0522 | M | 1.3 | T | S | Moderate | − | + | – | |||
ICsm0741 | F | 0.7 | TV | S | Moderate | − | + | – | |||
ICsm0740 | F | 1.0 | T | S | Moderate | + | + | – | |||
ICsm1186 | M | 1.5 | TV | R | Moderate | +++ | + | – | |||
ICsm0951 | M | 3.2 | TV | S | Severe | ++ | + | – | |||
ICsm1300 | F | 2.0 | TV | R | Severe | +++ | + | Exon 5 | 144 | 432G→C | Gln144His |
ICsm1169 | M | 1.2 | TV | S | Severe | +++ | + | Exon 5 | 150 | 449C→G | Thr150Arg |
ICsm0712 | F | 1.7 | T | R | Mild | + | + | Exon 5 | 175 | 523C→G | Arg175Gly |
ICsm0976 | M | 0.7 | TV | S | Severe | ++ | + | Exon 6 | 192 | 572delCTC | ΔPro190 |
ICsm0824 | M | 1.5 | T | R | Severe | + | + | Exon 7 | 245 | 733G→A | Gly245Ser |
ICsm0937 | F | 3.0 | TV | S | Severe | ++ | + | Exon 7 | 245 | 733G→C | Gly245Arg |
ICsm0798 | M | 2.2 | TV | T | Moderate | + | + | Exon 7 | 245 | 733G→A | Gly245Ser |
ICsm1195 | M | 3.5 | TV | S | Severe | + | + | Exon 7 | 245 | 733G→A | Gly245Ser |
ICsm1276 | M | 0.9 | TV | S | Severe | + | + | Exon 7 | 245 | 733G→A | Gly245Ser |
Intron 8 | IVS8+26 | Splicing? | |||||||||
ICsm0589 | M | 1.2 | T | R | Severe | − | + | Exon 8 | 285 | 853G→C | Glu285Gln |
ICsm0599 | F | 1.5 | T | S | Severe | +++ | + | Exon 8 | 285 | 853G→C | Glu285Gln |