| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326724 |
| Start |
81121902:81121902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2034G>A |
| AA Mutation |
p.Trp678Ter(p.W678*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81120762:81120763(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3173dupC |
| AA Mutation |
p.Leu1059ThrfsTer5(p.L1059Tfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AATK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81128544:81128544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.340C>T |
| AA Mutation |
p.Leu114Phe(p.L114F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81120257:81120257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374195702
|
| CDS Mutation |
c.3679C>T |
| AA Mutation |
p.Arg1227Cys(p.R1227C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81122324:81122324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747864469
|
| CDS Mutation |
c.1612G>A |
| AA Mutation |
p.Ala538Thr(p.A538T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81134424:81134424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201194092
|
| CDS Mutation |
c.133G>A |
| AA Mutation |
p.Val45Ile(p.V45I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326724 |
| Start |
81126462:81126462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs117052072
|
| CDS Mutation |
c.720C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|