| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116551213:116551214(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.444dupT |
| AA Mutation |
p.Val149CysfsTer2(p.V149Cfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116561632:116561633(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1330_1331insTGAGTACT |
| AA Mutation |
p.Lys444MetfsTer34(p.K444Mfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PNLIP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116548420:116548420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs572893986
|
| CDS Mutation |
c.262C>T |
| AA Mutation |
p.Arg88Cys(p.R88C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116553830:116553830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.563G>A |
| AA Mutation |
p.Arg188His(p.R188H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116553736:116553736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.469G>A |
| AA Mutation |
p.Gly157Ser(p.G157S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|