| Mutation ID |
52 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3217944:3217944(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7238delC |
| AA Mutation |
p.Pro2413HisfsTer44(p.P2413Hfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
53 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355072 |
| Start |
3154341:3154341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3547C>T |
| AA Mutation |
p.Arg1183Ter(p.R1183*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HTT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3206924:3206924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777338986
|
| CDS Mutation |
c.6016C>T |
| AA Mutation |
p.Arg2006Cys(p.R2006C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3148095:3148095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3386T>C |
| AA Mutation |
p.Leu1129Pro(p.L1129P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3206637:3206637(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5860A>G |
| AA Mutation |
p.Ile1954Val(p.I1954V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3180544:3180544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770827394
|
| CDS Mutation |
c.4642G>A |
| AA Mutation |
p.Asp1548Asn(p.D1548N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3175011:3175011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771433441
|
| CDS Mutation |
c.4311G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3186701:3186701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199866794
|
| CDS Mutation |
c.4971C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3212691:3212691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369632008
|
| CDS Mutation |
c.6756C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355072 |
| Start |
3238949:3238949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756339121
|
| CDS Mutation |
c.9186C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355072 |
| Start |
3086946:3086946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.271G>T |
| AA Mutation |
p.Glu91Ter(p.E91*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|