| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122020539:122020540(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.808dupT |
| AA Mutation |
p.Tyr270LeufsTer8(p.Y270Lfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122020434:122020435(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs751748506
|
| CDS Mutation |
c.707dupA |
| AA Mutation |
p.Asn236LysfsTer5(p.N236Kfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SRFBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122026953:122026953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1117A>T |
| AA Mutation |
p.Asn373Tyr(p.N373Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122020629:122020629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.894T>G |
| AA Mutation |
p.Ser298Arg(p.S298R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122020290:122020290(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.555G>T |
| AA Mutation |
p.Lys185Asn(p.K185N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339397 |
| Start |
122020793:122020793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1058G>T |
| AA Mutation |
p.Ser353Ile(p.S353I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339397 |
| Start |
122027064:122027064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs562977263
|
| CDS Mutation |
c.1228C>T |
| AA Mutation |
p.Arg410Ter(p.R410*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|