| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35286807:35286808(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1235_1236insGTCTTCCACC |
| AA Mutation |
p.Ile412MetfsTer78(p.I412Mfs*78) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000278379 |
| Start |
35292319:35292320(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1044_1058dupTGCTGGCATTTTCCA |
| AA Mutation |
p.Phe352_Gln353insHisAlaGlyIlePhe(p.F352_Q353insHAGIF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC1A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35312236:35312236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.523C>A |
| AA Mutation |
p.Leu175Ile(p.L175I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35286879:35286879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1164C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35280974:35280974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760683483
|
| CDS Mutation |
c.1314C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000278379 |
| Start |
35312242:35312242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.517C>T |
| AA Mutation |
p.Arg173Ter(p.R173*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|