| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7499400:7499400(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1585delC |
| AA Mutation |
p.Gln529ArgfsTer32(p.Q529Rfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7514025:7514025(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5765delC |
| AA Mutation |
p.Pro1922GlnfsTer44(p.P1922Qfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLR2A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7502022:7502022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2472G>T |
| AA Mutation |
p.Glu824Asp(p.E824D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7513624:7513624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5360C>T |
| AA Mutation |
p.Ser1787Phe(p.S1787F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7496055:7496055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.208C>T |
| AA Mutation |
p.Arg70Cys(p.R70C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7495951:7495951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104C>A |
| AA Mutation |
p.Ser35Tyr(p.S35Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7508404:7508404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3394A>G |
| AA Mutation |
p.Lys1132Glu(p.K1132E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7513503:7513503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5239A>G |
| AA Mutation |
p.Asn1747Asp(p.N1747D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7508466:7508466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3456G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7496568:7496568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368365915
|
| CDS Mutation |
c.492C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000617998 |
| Start |
7513196:7513196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200514677
|
| CDS Mutation |
c.4932G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|