| Mutation ID |
45 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245907 |
| Start |
6680216:6680216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4398C>A |
| AA Mutation |
p.Tyr1466Ter(p.Y1466*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
46 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6686903:6686903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3490-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> C3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6718156:6718156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.442C>T |
| AA Mutation |
p.Arg148Trp(p.R148W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6690718:6690718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138900723
|
| CDS Mutation |
c.3400C>T |
| AA Mutation |
p.Arg1134Trp(p.R1134W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6707857:6707857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1918T>G |
| AA Mutation |
p.Ser640Ala(p.S640A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6685119:6685119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3838G>A |
| AA Mutation |
p.Ala1280Thr(p.A1280T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6710726:6710726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769788867
|
| CDS Mutation |
c.1599G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6712595:6712595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750401841
|
| CDS Mutation |
c.1032C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245907 |
| Start |
6702542:6702542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780952671
|
| CDS Mutation |
c.2283C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|