| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000233741 |
| Start |
58165794:58165794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374195602
|
| CDS Mutation |
c.621C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233741 |
| Start |
58159785:58159785(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1108delA |
| AA Mutation |
p.Met370CysfsTer20(p.M370Cfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FANCL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000233741 |
| Start |
58221944:58221944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.372T>G |
| AA Mutation |
p.Asp124Glu(p.D124E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000233741 |
| Start |
58161531:58161531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1011C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000233741 |
| Start |
58204162:58204162(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.439G>T |
| AA Mutation |
p.Glu147Ter(p.E147*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|