| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92853914:92853914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.406+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92857429:92857429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.300+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EEA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92813078:92813078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758449293
|
| CDS Mutation |
c.1945G>A |
| AA Mutation |
p.Glu649Lys(p.E649K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92816341:92816341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1788G>T |
| AA Mutation |
p.Glu596Asp(p.E596D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92819493:92819493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1543C>G |
| AA Mutation |
p.Leu515Val(p.L515V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92813009:92813009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2014G>T |
| AA Mutation |
p.Ala672Ser(p.A672S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92819420:92819420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1616T>C |
| AA Mutation |
p.Ile539Thr(p.I539T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322349 |
| Start |
92832681:92832681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1085G>T |
| AA Mutation |
p.Arg362Ile(p.R362I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322349 |
| Start |
92819397:92819397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1639G>T |
| AA Mutation |
p.Glu547Ter(p.E547*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|