| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265713 |
| Start |
41942807:41942807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2422G>T |
| AA Mutation |
p.Glu808Ter(p.E808*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41933141:41933142(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5078dupC |
| AA Mutation |
p.Pro1694ThrfsTer13(p.P1694Tfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KAT6A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41934277:41934277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750484795
|
| CDS Mutation |
c.3943G>A |
| AA Mutation |
p.Asp1315Asn(p.D1315N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41934834:41934834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771696360
|
| CDS Mutation |
c.3386G>A |
| AA Mutation |
p.Arg1129Gln(p.R1129Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41980857:41980857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776847996
|
| CDS Mutation |
c.896G>A |
| AA Mutation |
p.Arg299His(p.R299H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41933055:41933055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5165A>C |
| AA Mutation |
p.Glu1722Ala(p.E1722A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41933998:41933998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771962304
|
| CDS Mutation |
c.4222G>A |
| AA Mutation |
p.Glu1408Lys(p.E1408K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41941408:41941408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2473G>T |
| AA Mutation |
p.Asp825Tyr(p.D825Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41949247:41949247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1715G>T |
| AA Mutation |
p.Arg572Ile(p.R572I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41941291:41941291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781221004
|
| CDS Mutation |
c.2590C>T |
| AA Mutation |
p.Arg864Trp(p.R864W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265713 |
| Start |
41978753:41978753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.932G>A |
| AA Mutation |
p.Arg311Gln(p.R311Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|