| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49786258:49786258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.930C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304801 |
| Start |
49786779:49786779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.409G>T |
| AA Mutation |
p.Gly137Ter(p.G137*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PGK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49787184:49787184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4T>C |
| AA Mutation |
p.Ser2Pro(p.S2P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49786580:49786580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746884249
|
| CDS Mutation |
c.608A>C |
| AA Mutation |
p.Asn203Thr(p.N203T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49787142:49787142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46G>T |
| AA Mutation |
p.Gly16Trp(p.G16W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49786172:49786172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373042304
|
| CDS Mutation |
c.1016C>T |
| AA Mutation |
p.Pro339Leu(p.P339L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49786363:49786363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780494411
|
| CDS Mutation |
c.825G>T |
| AA Mutation |
p.Lys275Asn(p.K275N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304801 |
| Start |
49786937:49786937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.251A>G |
| AA Mutation |
p.Glu84Gly(p.E84G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|