| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57025384:57025385(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3087_3088insTC |
| AA Mutation |
p.Asn1030SerfsTer23(p.N1030Sfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57005248:57005249(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.906dupA |
| AA Mutation |
p.Pro303ThrfsTer5(p.P303Tfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLR2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57022166:57022166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2435G>T |
| AA Mutation |
p.Arg812Leu(p.R812L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57022166:57022166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2435G>A |
| AA Mutation |
p.Arg812His(p.R812H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57015524:57015524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1823G>A |
| AA Mutation |
p.Arg608Gln(p.R608Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314595 |
| Start |
57017708:57017708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2303G>A |
| AA Mutation |
p.Arg768Gln(p.R768Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|