| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356264 |
| Start |
38503683:38503683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771517892
|
| CDS Mutation |
c.172C>T |
| AA Mutation |
p.Arg58Ter(p.R58*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38534930:38534930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.150+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMPH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38394022:38394022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367689186
|
| CDS Mutation |
c.1591G>A |
| AA Mutation |
p.Glu531Lys(p.E531K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38494523:38494523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.210G>T |
| AA Mutation |
p.Met70Ile(p.M70I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38476954:38476954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.412C>T |
| AA Mutation |
p.Arg138Cys(p.R138C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38394072:38394072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1541C>A |
| AA Mutation |
p.Thr514Asn(p.T514N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356264 |
| Start |
38534964:38534964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746347656
|
| CDS Mutation |
c.117C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|