| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260356 |
| Start |
39594430:39594430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3495C>A |
| AA Mutation |
p.Tyr1165Ter(p.Y1165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000260356 |
| Start |
39588218:39588221(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1471+3_1471+6delAAGT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> THBS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260356 |
| Start |
39582367:39582367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.242C>A |
| AA Mutation |
p.Ala81Asp(p.A81D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260356 |
| Start |
39590593:39590593(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2223C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
inframe_deletion;splice_region_variant |
| Transcription ID |
ENST00000260356 |
| Start |
39592793:39592801(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2759_2767delACTCTGACG |
| AA Mutation |
p.Asp920_Asp922del(p.D920_D922del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|