Mutation | Location | Consequence of mutation | Type | NMD predicted |
---|---|---|---|---|
1399delC | Exon 12 | PTC at TGA starting at base 1453 | FSD | Yes |
1410delC | Exon 12 | PTC at TGA starting at base 1453 | FSD | Yes |
1420C>G (S353X) | Exon 12 | Immediate PTC | N | Yes |
1424C>G (Y354X) | Exon 12 | Immediate PTC | N | Yes |
1426ins5 | Exon 12 | PTC at TGA starting at base 1469 | FSI | Yes |
1452delG | Exon 12 | PTC at TGA starting at base 1453 | FSD | Yes |
1469T>G (Y369X) | Exon 12 | Immediate PTC | N | Yes |
1513del4 | Exon 12 | Run-on into 3'UTR | FSD | No |
1520delGGinsT | Exon 12 | Run-on into 3'UTR | FSD | No |
1545G>C | Exon 12 | Run-on into 3'UTR | S | No |
IVS12+1del3 | Intron 12 | Run-on into 3'UTR | S | No |
IVS12+4A>G | Intron 12 | Run-on into 3'UTR | S | No |
IVS12+5G>A | Intron 12 | Run-on into 3'UTR | S | No |
1562delT | Exon 13 | Run-on into 3'UTR | FSD | No |
1601delT | Exon 13 | Run-on into 3'UTR | FSD | No |
1615del10 | Exon 13 | Run-on into 3'UTR | FSD | No |