| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49796854:49796854(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.273delA |
| AA Mutation |
p.Lys91AsnfsTer50(p.K91Nfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49826024:49826024(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1509delA |
| AA Mutation |
p.Val504LeufsTer14(p.V504Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KAT7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49796852:49796852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199567018
|
| CDS Mutation |
c.266C>T |
| AA Mutation |
p.Pro89Leu(p.P89L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49798520:49798520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.542T>G |
| AA Mutation |
p.Phe181Cys(p.F181C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49798493:49798493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.515G>A |
| AA Mutation |
p.Arg172His(p.R172H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49796881:49796881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295T>G |
| AA Mutation |
p.Ser99Ala(p.S99A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49796768:49796768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182A>C |
| AA Mutation |
p.Asn61Thr(p.N61T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259021 |
| Start |
49791992:49791992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.122G>A |
| AA Mutation |
p.Arg41Gln(p.R41Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|