| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000416165 |
| Start |
40459754:40459754(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1292delC |
| AA Mutation |
p.Pro431LeufsTer16(p.P431Lfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000416165 |
| Start |
40458758:40458759(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.300dupC |
| AA Mutation |
p.Ser101GlnfsTer7(p.S101Qfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BAHD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000416165 |
| Start |
40459525:40459525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1061C>T |
| AA Mutation |
p.Pro354Leu(p.P354L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000416165 |
| Start |
40459141:40459141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677C>A |
| AA Mutation |
p.Pro226His(p.P226H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000416165 |
| Start |
40459460:40459460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs534764286
|
| CDS Mutation |
c.996C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|