| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400897 |
| Start |
11027392:11027392(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1554delT |
| AA Mutation |
p.Phe518LeufsTer16(p.F518Lfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000400897 |
| Start |
11027454:11027454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200468343
|
| CDS Mutation |
c.1492C>T |
| AA Mutation |
p.Arg498Ter(p.R498*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MASP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400897 |
| Start |
11027225:11027225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1721G>A |
| AA Mutation |
p.Gly574Glu(p.G574E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400897 |
| Start |
11026909:11026909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763592564
|
| CDS Mutation |
c.2037C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|