| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13571031:13571031(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.680delG |
| AA Mutation |
p.Gly227AlafsTer47(p.G227Afs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295760 |
| Start |
13571565:13571565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1210G>T |
| AA Mutation |
p.Glu404Ter(p.E404*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FBLN2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13619819:13619819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200141144
|
| CDS Mutation |
c.2143G>A |
| AA Mutation |
p.Val715Met(p.V715M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13571035:13571035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.680G>C |
| AA Mutation |
p.Gly227Ala(p.G227A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13636533:13636533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs17854691
|
| CDS Mutation |
c.3162C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13629926:13629926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748718491
|
| CDS Mutation |
c.2808G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|