| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000285670 |
| Start |
14582140:14582140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.257C>A |
| AA Mutation |
p.Ser86Ter(p.S86*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14516930:14516931(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.240dupA |
| AA Mutation |
p.Val81SerfsTer3(p.V81Sfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAMSN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14521187:14521187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199748093
|
| CDS Mutation |
c.92G>A |
| AA Mutation |
p.Arg31Gln(p.R31Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14516978:14516978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377428221
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Gly65Ser(p.G65S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14516899:14516899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.272A>G |
| AA Mutation |
p.Glu91Gly(p.E91G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14500544:14500544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.753G>T |
| AA Mutation |
p.Glu251Asp(p.E251D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400566 |
| Start |
14500634:14500634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.663C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|