| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88716061:88716067(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7182_7188delTGCGGGG |
| AA Mutation |
p.Ala2395ProfsTer117(p.A2395Pfs*117) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000301015 |
| Start |
88732352:88732354(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs758890489
|
| CDS Mutation |
c.2972_2974delTCT |
| AA Mutation |
p.Phe991del(p.F991del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIEZO1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88731896:88731896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3006G>A |
| AA Mutation |
p.Met1002Ile(p.M1002I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88720441:88720441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5893T>C |
| AA Mutation |
p.Phe1965Leu(p.F1965L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88736240:88736240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs59550107
|
| CDS Mutation |
c.1465C>T |
| AA Mutation |
p.Arg489Cys(p.R489C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|