| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360803 |
| Start |
1012582:1012582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1462C>T |
| AA Mutation |
p.Arg488Ter(p.R488*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360803 |
| Start |
1012464:1012464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1345-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GTPBP4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360803 |
| Start |
997279:997279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.532A>T |
| AA Mutation |
p.Asn178Tyr(p.N178Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360803 |
| Start |
996156:996156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374244248
|
| CDS Mutation |
c.374G>A |
| AA Mutation |
p.Arg125His(p.R125H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360803 |
| Start |
1017122:1017122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1800G>T |
| AA Mutation |
p.Met600Ile(p.M600I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360803 |
| Start |
1012464:1012464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1345-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|