| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183953189:183953189(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2564delG |
| AA Mutation |
p.Gly855AlafsTer14(p.G855Afs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183947469:183947469(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs762628168
|
| CDS Mutation |
c.3269delT |
| AA Mutation |
p.Leu1090CysfsTer26(p.L1090Cfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCC5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183989349:183989349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772438681
|
| CDS Mutation |
c.164G>A |
| AA Mutation |
p.Arg55Gln(p.R55Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334444 |
| Start |
184014299:184014299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.94G>T |
| AA Mutation |
p.Asp32Tyr(p.D32Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183982798:183982798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760611197
|
| CDS Mutation |
c.801C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334444 |
| Start |
183988691:183988691(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.324delC |
| AA Mutation |
p.Cys109ValfsTer2(p.C109Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334444 |
| Start |
183953117:183953117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2636G>A |
| AA Mutation |
p.Trp879Ter(p.W879*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334444 |
| Start |
183987859:183987859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771305194
|
| CDS Mutation |
c.502C>T |
| AA Mutation |
p.Arg168Ter(p.R168*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|