| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000400256 |
| Start |
333084:333084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1876G>T |
| AA Mutation |
p.Glu626Ter(p.E626*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400256 |
| Start |
334817:334818(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs750635929
|
| CDS Mutation |
c.1740dupC |
| AA Mutation |
p.Gly581ArgfsTer17(p.G581Rfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COLEC12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400256 |
| Start |
347050:347050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572A>T |
| AA Mutation |
p.Asn191Ile(p.N191I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400256 |
| Start |
357496:357496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.85A>G |
| AA Mutation |
p.Lys29Glu(p.K29E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400256 |
| Start |
357502:357502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.79T>C |
| AA Mutation |
p.Cys27Arg(p.C27R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400256 |
| Start |
480712:480712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.53G>T |
| AA Mutation |
p.Arg18Leu(p.R18L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400256 |
| Start |
347255:347255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.367C>T |
| AA Mutation |
p.Arg123Cys(p.R123C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400256 |
| Start |
335079:335079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770196943
|
| CDS Mutation |
c.1479C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400256 |
| Start |
333040:333040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1920A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|