| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153959879:153959879(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1367delC |
| AA Mutation |
p.Pro456ArgfsTer34(p.P456Rfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153950835:153950835(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5681delC |
| AA Mutation |
p.Pro1894LeufsTer22(p.P1894Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HCFC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153960068:153960068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1178A>T |
| AA Mutation |
p.Tyr393Phe(p.Y393F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153952765:153952765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4691C>T |
| AA Mutation |
p.Ser1564Phe(p.S1564F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153963380:153963380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.557C>T |
| AA Mutation |
p.Ala186Val(p.A186V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153955255:153955255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3144C>A |
| AA Mutation |
p.Phe1048Leu(p.F1048L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153956655:153956655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375812900
|
| CDS Mutation |
c.2605G>A |
| AA Mutation |
p.Val869Ile(p.V869I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153954475:153954475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3924G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153962266:153962266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.753G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310441 |
| Start |
153950843:153950843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5673A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|