| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000263754 |
| Start |
20114881:20114881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1044-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000263754 |
| Start |
20140357:20140359(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1999_2001delAAG |
| AA Mutation |
p.Lys667del(p.K667del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KAT2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263754 |
| Start |
20148443:20148443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2261G>T |
| AA Mutation |
p.Arg754Ile(p.R754I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263754 |
| Start |
20146355:20146355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2044C>T |
| AA Mutation |
p.Arg682Ter(p.R682*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|