| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343619 |
| Start |
42470095:42470095(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.303delT |
| AA Mutation |
p.Phe101LeufsTer8(p.F101Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000343619 |
| Start |
42514366:42514368(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2335_2337delTTC |
| AA Mutation |
p.Phe779del(p.F779del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP6V0A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343619 |
| Start |
42513885:42513885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2155C>G |
| AA Mutation |
p.His719Asp(p.H719D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343619 |
| Start |
42495693:42495693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1537C>T |
| AA Mutation |
p.Pro513Ser(p.P513S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343619 |
| Start |
42470154:42470154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.359G>T |
| AA Mutation |
p.Arg120Ile(p.R120I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|