| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334636 |
| Start |
14880703:14880703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576642411
|
| CDS Mutation |
c.433C>T |
| AA Mutation |
p.Arg145Ter(p.R145*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334636 |
| Start |
14878241:14878242(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1386dupT |
| AA Mutation |
p.Thr463TyrfsTer14(p.T463Yfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP2R1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334636 |
| Start |
14880268:14880268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.868G>T |
| AA Mutation |
p.Asp290Tyr(p.D290Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334636 |
| Start |
14880520:14880520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.616G>A |
| AA Mutation |
p.Asp206Asn(p.D206N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|