| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000225916 |
| Start |
42114527:42114527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782247027
|
| CDS Mutation |
c.2097C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000225916 |
| Start |
42120823:42120823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.346G>T |
| AA Mutation |
p.Glu116Ter(p.E116*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KAT2A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225916 |
| Start |
42120088:42120088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138450610
|
| CDS Mutation |
c.641G>A |
| AA Mutation |
p.Arg214Gln(p.R214Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225916 |
| Start |
42119672:42119672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.746G>A |
| AA Mutation |
p.Arg249Gln(p.R249Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000225916 |
| Start |
42120782:42120782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.387delC |
| AA Mutation |
p.Thr130LeufsTer14(p.T130Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|