| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000406875 |
| Start |
139613282:139613282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2032C>T |
| AA Mutation |
p.Arg678Ter(p.R678*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000406875 |
| Start |
139631174:139631174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1338G>A |
| AA Mutation |
p.Trp446Ter(p.W446*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIPK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406875 |
| Start |
139614301:139614301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1975C>T |
| AA Mutation |
p.Pro659Ser(p.P659S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406875 |
| Start |
139614469:139614469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1807A>G |
| AA Mutation |
p.Ile603Val(p.I603V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406875 |
| Start |
139716688:139716688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.347G>A |
| AA Mutation |
p.Arg116His(p.R116H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406875 |
| Start |
139716782:139716782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780228518
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Val85Ile(p.V85I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000406875 |
| Start |
139716204:139716204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.831C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|