| Mutation ID |
9 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000303924 |
| Start |
121628808:121628809(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.532_533insTATGACTGGACAGAT |
| AA Mutation |
p.Asn178delinsIleTerLeuAspArgTyr(p.N178delinsI*LDRY) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000303924 |
| Start |
121614690:121614690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078C>T |
| AA Mutation |
p.Arg360Ter(p.R360*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HAS2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303924 |
| Start |
121629135:121629135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202113498
|
| CDS Mutation |
c.206G>A |
| AA Mutation |
p.Arg69Gln(p.R69Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303924 |
| Start |
121614640:121614640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1128G>T |
| AA Mutation |
p.Met376Ile(p.M376I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303924 |
| Start |
121614704:121614704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1064G>A |
| AA Mutation |
p.Ser355Asn(p.S355N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303924 |
| Start |
121614343:121614343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1425C>A |
| AA Mutation |
p.Phe475Leu(p.F475L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|