| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000323669 |
| Start |
53063172:53063172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1537T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323669 |
| Start |
53054600:53054600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2275G>T |
| AA Mutation |
p.Gly759Ter(p.G759*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DDHD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323669 |
| Start |
53051909:53051909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2456C>T |
| AA Mutation |
p.Ser819Leu(p.S819L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323669 |
| Start |
53046830:53046830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2641T>G |
| AA Mutation |
p.Leu881Val(p.L881V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323669 |
| Start |
53055905:53055905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2000G>T |
| AA Mutation |
p.Arg667Ile(p.R667I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323669 |
| Start |
53093332:53093332(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1125delA |
| AA Mutation |
p.Lys375AsnfsTer19(p.K375Nfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323669 |
| Start |
53062947:53062947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1762C>T |
| AA Mutation |
p.Arg588Ter(p.R588*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|