| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000253083 |
| Start |
122861479:122861479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3124C>T |
| AA Mutation |
p.Gln1042Ter(p.Q1042*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000253083 |
| Start |
122860185:122860187(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs751385565
|
| CDS Mutation |
c.2536_2538delAAG |
| AA Mutation |
p.Lys846del(p.K846del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIP1R
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253083 |
| Start |
122861139:122861139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2899G>A |
| AA Mutation |
p.Asp967Asn(p.D967N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253083 |
| Start |
122857043:122857043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368659941
|
| CDS Mutation |
c.1643G>A |
| AA Mutation |
p.Arg548Gln(p.R548Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253083 |
| Start |
122857192:122857192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1792T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|