| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000239449 |
| Start |
141225873:141225873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2368C>T |
| AA Mutation |
p.Arg790Ter(p.R790*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000239449 |
| Start |
141223712:141223713(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207_208insCTCCATG |
| AA Mutation |
p.Asp70LeufsTer4(p.D70Lfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDHB14
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239449 |
| Start |
141224550:141224550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045A>G |
| AA Mutation |
p.Ile349Val(p.I349V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239449 |
| Start |
141224466:141224466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961G>A |
| AA Mutation |
p.Ala321Thr(p.A321T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000239449 |
| Start |
141223991:141223991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782638231
|
| CDS Mutation |
c.486C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000239449 |
| Start |
141225086:141225086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1581C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|