| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377046 |
| Start |
65719079:65719079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773165524
|
| CDS Mutation |
c.1440C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377046 |
| Start |
65713657:65713657(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.510delT |
| AA Mutation |
p.Gln172ArgfsTer41(p.Q172Rfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KAT5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377046 |
| Start |
65712395:65712395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.29G>A |
| AA Mutation |
p.Gly10Asp(p.G10D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377046 |
| Start |
65714617:65714617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.714C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377046 |
| Start |
65713645:65713645(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.497delC |
| AA Mutation |
p.Pro166ArgfsTer47(p.P166Rfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377046 |
| Start |
65714561:65714561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.658C>T |
| AA Mutation |
p.Arg220Ter(p.R220*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|