| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80267117:80267117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.293G>A |
| AA Mutation |
p.Gly98Asp(p.G98D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80286409:80286410(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs776672648
|
| CDS Mutation |
c.550dupA |
| AA Mutation |
p.Thr184AsnfsTer11(p.T184Nfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FGF5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80286442:80286442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.577A>C |
| AA Mutation |
p.Asn193His(p.N193H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80267036:80267036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.212G>T |
| AA Mutation |
p.Gly71Val(p.G71V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80286603:80286603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.738G>T |
| AA Mutation |
p.Lys246Asn(p.K246N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000312465 |
| Start |
80267035:80267035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779790827
|
| CDS Mutation |
c.211G>T |
| AA Mutation |
p.Gly71Ter(p.G71*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80286556:80286557(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.692_693dupTT |
| AA Mutation |
p.Thr232LeufsTer29(p.T232Lfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|