| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265849 |
| Start |
5999182:5999182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760228510
|
| CDS Mutation |
c.631C>T |
| AA Mutation |
p.Arg211Ter(p.R211*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265849 |
| Start |
5982823:5982823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267608172
|
| CDS Mutation |
c.2174+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PMS2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265849 |
| Start |
6002575:6002575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.415C>A |
| AA Mutation |
p.His139Asn(p.H139N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265849 |
| Start |
5995616:5995616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.821C>T |
| AA Mutation |
p.Ser274Leu(p.S274L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265849 |
| Start |
5986985:5986985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1780T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265849 |
| Start |
5982850:5982850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748404138
|
| CDS Mutation |
c.2148C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265849 |
| Start |
5987534:5987534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1231G>T |
| AA Mutation |
p.Glu411Ter(p.E411*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265849 |
| Start |
5986925:5986925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63750490
|
| CDS Mutation |
c.1840A>T |
| AA Mutation |
p.Lys614Ter(p.K614*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|