| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000236671 |
| Start |
1759600:1759600(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.268delC |
| AA Mutation |
p.Gln90SerfsTer43(p.Q90Sfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000236671 |
| Start |
1759599:1759600(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752612332
|
| CDS Mutation |
c.268dupC |
| AA Mutation |
p.Gln90ProfsTer50(p.Q90Pfs*50) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CTSD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236671 |
| Start |
1761446:1761446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.91T>C |
| AA Mutation |
p.Ser31Pro(p.S31P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236671 |
| Start |
1753510:1753510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200303993
|
| CDS Mutation |
c.1232G>A |
| AA Mutation |
p.Arg411His(p.R411H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|