| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43104233:43104234(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs80357604
|
| CDS Mutation |
c.329dupA |
| AA Mutation |
p.Glu111GlyfsTer3(p.E111Gfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43093315:43093316(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2214_2215dupTA |
| AA Mutation |
p.Lys739IlefsTer15(p.K739Ifs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BRCA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43092233:43092233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3298G>A |
| AA Mutation |
p.Gly1100Arg(p.G1100R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43094172:43094172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1359G>T |
| AA Mutation |
p.Glu453Asp(p.E453D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43104902:43104902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.267C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357654 |
| Start |
43093817:43093817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs730881473
|
| CDS Mutation |
c.1714G>T |
| AA Mutation |
p.Glu572Ter(p.E572*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|