| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378802 |
| Start |
186201224:186201224(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.873delC |
| AA Mutation |
p.Ser292ProfsTer13(p.S292Pfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378802 |
| Start |
186210472:186210472(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1412delA |
| AA Mutation |
p.Lys471SerfsTer4(p.K471Sfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP4V2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378802 |
| Start |
186210508:186210508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146494374
|
| CDS Mutation |
c.1445C>T |
| AA Mutation |
p.Ser482Leu(p.S482L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378802 |
| Start |
186197590:186197590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763083895
|
| CDS Mutation |
c.662G>A |
| AA Mutation |
p.Arg221His(p.R221H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378802 |
| Start |
186198976:186198976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369063468
|
| CDS Mutation |
c.694C>T |
| AA Mutation |
p.Arg232Ter(p.R232*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|