| Mutation ID |
27 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141247375:141247375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs536732904
|
| CDS Mutation |
c.1797C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141245909:141245909(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.336delA |
| AA Mutation |
p.Lys112AsnfsTer11(p.K112Nfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDHB15
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141246254:141246254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.676G>A |
| AA Mutation |
p.Val226Ile(p.V226I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141246282:141246282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.704C>T |
| AA Mutation |
p.Ala235Val(p.A235V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141245822:141245822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.244G>A |
| AA Mutation |
p.Gly82Arg(p.G82R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141246519:141246519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.941C>T |
| AA Mutation |
p.Ser314Leu(p.S314L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231173 |
| Start |
141246841:141246841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1263C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231173 |
| Start |
141246476:141246476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.898G>T |
| AA Mutation |
p.Glu300Ter(p.E300*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|