| Mutation ID |
27 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15607679:15607679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1762C>T |
| AA Mutation |
p.Arg588Ter(p.R588*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15616512:15616512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1445+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGA8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15606394:15606394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1793C>A |
| AA Mutation |
p.Ser598Tyr(p.S598Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15604321:15604321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2005C>T |
| AA Mutation |
p.His669Tyr(p.H669Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15684041:15684041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.531C>A |
| AA Mutation |
p.Asn177Lys(p.N177K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15607777:15607777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140395954
|
| CDS Mutation |
c.1664G>A |
| AA Mutation |
p.Arg555Gln(p.R555Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15647011:15647011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747010112
|
| CDS Mutation |
c.1042C>T |
| AA Mutation |
p.Arg348Cys(p.R348C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378076 |
| Start |
15604223:15604223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs45604340
|
| CDS Mutation |
c.2103C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|