| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264381 |
| Start |
165829899:165829899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1135C>T |
| AA Mutation |
p.Gln379Ter(p.Q379*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165830006:165830007(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs754214624
|
| CDS Mutation |
c.1027dupA |
| AA Mutation |
p.Thr343AsnfsTer8(p.T343Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BCHE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165830888:165830888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.146T>G |
| AA Mutation |
p.Phe49Cys(p.F49C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165830729:165830729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.305C>A |
| AA Mutation |
p.Pro102Gln(p.P102Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165830621:165830621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.413T>G |
| AA Mutation |
p.Leu138Trp(p.L138W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165829619:165829619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1415T>A |
| AA Mutation |
p.Phe472Tyr(p.F472Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264381 |
| Start |
165830133:165830133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.901C>A |
| AA Mutation |
p.Leu301Ile(p.L301I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|