| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12698609:12698609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.867C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12702411:12702414(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs752724988
|
| CDS Mutation |
c.1057_1060delAACA |
| AA Mutation |
p.Asn353ValfsTer31(p.N353Vfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TYRP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12709072:12709072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1504C>T |
| AA Mutation |
p.Arg502Cys(p.R502C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12694311:12694311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.315C>A |
| AA Mutation |
p.Phe105Leu(p.F105L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12704674:12704674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1230C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12695696:12695696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.567T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000388918 |
| Start |
12702411:12702414(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs752724988
|
| CDS Mutation |
c.1057_1060delAACA |
| AA Mutation |
p.Asn353ValfsTer31(p.N353Vfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000388918 |
| Start |
12704564:12704564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121912778
|
| CDS Mutation |
c.1120C>T |
| AA Mutation |
p.Arg374Ter(p.R374*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|