| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214781361:214781361(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.513delA |
| AA Mutation |
p.Asp172MetfsTer40(p.D172Mfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260947 |
| Start |
214728971:214728971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2039G>A |
| AA Mutation |
p.Trp680Ter(p.W680*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BARD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214781179:214781179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.695A>G |
| AA Mutation |
p.Lys232Arg(p.K232R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214781430:214781430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.444C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260947 |
| Start |
214781015:214781015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.859G>T |
| AA Mutation |
p.Glu287Ter(p.E287*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|