| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343289 |
| Start |
103101068:103101068(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.516delT |
| AA Mutation |
p.Phe172LeufsTer30(p.F172Lfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343289 |
| Start |
103101286:103101286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764453448
|
| CDS Mutation |
c.430C>T |
| AA Mutation |
p.Arg144Ter(p.R144*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000343289 |
| Start |
103094039:103094039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.922-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NT5C2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343289 |
| Start |
103105764:103105764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.331A>C |
| AA Mutation |
p.Lys111Gln(p.K111Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|