| Mutation ID |
30 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160722568:160722568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772727378
|
| CDS Mutation |
c.1256+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000308192 |
| Start |
160722479:160722480(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1179_1181dupCAC |
| AA Mutation |
p.Thr394dup(p.T394dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160718715:160718715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.973C>T |
| AA Mutation |
p.Arg325Cys(p.R325C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160731124:160731124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs574500945
|
| CDS Mutation |
c.1330G>A |
| AA Mutation |
p.Val444Ile(p.V444I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160716721:160716721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs532027310
|
| CDS Mutation |
c.745G>A |
| AA Mutation |
p.Asp249Asn(p.D249N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160731805:160731805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140970354
|
| CDS Mutation |
c.1499C>T |
| AA Mutation |
p.Thr500Met(p.T500M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308192 |
| Start |
160706529:160706529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.172G>T |
| AA Mutation |
p.Glu58Ter(p.E58*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|