| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56378398:56378399(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.417_418insTCCAT |
| AA Mutation |
p.Val140SerfsTer14(p.V140Sfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56342833:56342833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2907+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AASDH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56355306:56355306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746388566
|
| CDS Mutation |
c.979G>A |
| AA Mutation |
p.Val327Ile(p.V327I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56338560:56338560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3139G>A |
| AA Mutation |
p.Val1047Met(p.V1047M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56349538:56349538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2213C>A |
| AA Mutation |
p.Ala738Glu(p.A738E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56354715:56354715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1200A>C |
| AA Mutation |
p.Gln400His(p.Q400H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56338503:56338503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3196G>A |
| AA Mutation |
p.Glu1066Lys(p.E1066K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56349599:56349599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2152A>C |
| AA Mutation |
p.Asn718His(p.N718H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000205214 |
| Start |
56378393:56378393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776194847
|
| CDS Mutation |
c.423C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|