| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93215562:93215562(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.554delA |
| AA Mutation |
p.Asn185MetfsTer25(p.N185Mfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93208761:93208761(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.831delC |
| AA Mutation |
p.Asn278ThrfsTer22(p.N278Tfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HEPACAM2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93197518:93197518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1105C>A |
| AA Mutation |
p.Leu369Ile(p.L369I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93195862:93195862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1241T>G |
| AA Mutation |
p.Phe414Cys(p.F414C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93219441:93219441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375176875
|
| CDS Mutation |
c.90G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|