| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328963 |
| Start |
121162514:121162514(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.532delC |
| AA Mutation |
p.Arg178GlyfsTer5(p.R178Gfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000328963 |
| Start |
121175479:121175479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149116962
|
| CDS Mutation |
c.972+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> P2RX7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328963 |
| Start |
121156113:121156113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.329A>G |
| AA Mutation |
p.Lys110Arg(p.K110R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328963 |
| Start |
121154817:121154817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143171240
|
| CDS Mutation |
c.158G>A |
| AA Mutation |
p.Arg53Gln(p.R53Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000328963 |
| Start |
121167568:121167568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.825C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|