| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284061 |
| Start |
56862225:56862225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1498C>T |
| AA Mutation |
p.Arg500Ter(p.R500*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000284061 |
| Start |
56845793:56845794(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.728_729insAAA |
| AA Mutation |
p.Leu243_Leu244insLys(p.L243_L244insK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DGKE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000284061 |
| Start |
56845808:56845808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743A>G |
| AA Mutation |
p.Gln248Arg(p.Q248R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284061 |
| Start |
56856606:56856606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1193C>A |
| AA Mutation |
p.Ser398Tyr(p.S398Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284061 |
| Start |
56862225:56862225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1498C>T |
| AA Mutation |
p.Arg500Ter(p.R500*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000284061 |
| Start |
56848852:56848852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Ter(p.R349*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000284061 |
| Start |
56844157:56844158(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752093714
|
| CDS Mutation |
c.610dupA |
| AA Mutation |
p.Thr204AsnfsTer4(p.T204Nfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|