| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280560 |
| Start |
122959876:122959876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745873784
|
| CDS Mutation |
c.360C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280560 |
| Start |
122935425:122935425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1750C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCB9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280560 |
| Start |
122946053:122946053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1223C>T |
| AA Mutation |
p.Ala408Val(p.A408V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000280560 |
| Start |
122940182:122940182(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1672delC |
| AA Mutation |
p.Leu558TrpfsTer24(p.L558Wfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000280560 |
| Start |
122940172:122940172(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1682delG |
| AA Mutation |
p.Gly561AlafsTer21(p.G561Afs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|