| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41137749:41137750(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.109_110delTT |
| AA Mutation |
p.Leu37ValfsTer37(p.L37Vfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41169474:41169474(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2602delC |
| AA Mutation |
p.Leu868Ter(p.L868*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLCG1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41166705:41166705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2147G>A |
| AA Mutation |
p.Arg716His(p.R716H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41159696:41159696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.308A>T |
| AA Mutation |
p.Gln103Leu(p.Q103L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41166751:41166751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778521353
|
| CDS Mutation |
c.2193C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|