Table 3. Sanger verified mutations.
| Nr | Gene | Chr | Exon | HG19 notation | mRNA | Amino acid | Type | |
|---|---|---|---|---|---|---|---|---|
| 1A | RNF213 | Ring finger protein 213 | 17 | 29 | 78319549 | c.7414T>C | p.F2472L | Missense |
| 1B | CCND1 | Cyclin D1 | 11 | 5 | 69466021 | c.859C>G | p.P287A | Missense |
| 1C | SEPT09 | Septin-9 | 17 | 5 | 75483596 | c.1004G>A | p.R335H | Missense |
| 1D | KRAS | V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 12 | 2 | 25398285 | c.34C>A | p.G12C | Missense |
| 1E | KDR (a.k.a. VEGFR2) | Kinase insert domain receptor | 4 | 18 | 55963862 | c.2581T>A | p.T861S | Missense |
| 1F | CSMD3 | CUB and Sushi multiple domains 3 | 8 | 2 | 114327017 | c.184TAAAT>AAAAA | p.IF62FF | Missense |
| 1G | MLH1 | MutL homolog 1 | 3 | 12 | 37067195 | c.1106C>T | p.S369F | Missense |
| 1H | ERBB4 (a.k.a. HER4) | Receptor tyrosine-protein kinase erbB-4 | 2 | 25 | 212285269 | c.3032T>A | p.E2V | Missense |