| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377252 |
| Start |
20177004:20177004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749464992
|
| CDS Mutation |
c.889C>T |
| AA Mutation |
p.Arg297Ter(p.R297*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377252 |
| Start |
20211697:20211697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1090C>T |
| AA Mutation |
p.Gln364Ter(p.Q364*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLXDC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377252 |
| Start |
20279768:20279768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1539A>C |
| AA Mutation |
p.Glu513Asp(p.E513D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377252 |
| Start |
20143325:20143325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768383816
|
| CDS Mutation |
c.572G>A |
| AA Mutation |
p.Arg191Gln(p.R191Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377252 |
| Start |
20046897:20046897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.353C>A |
| AA Mutation |
p.Ser118Tyr(p.S118Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377252 |
| Start |
20143371:20143371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.618C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000377252 |
| Start |
20147900:20147900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.781G>T |
| AA Mutation |
p.Glu261Ter(p.E261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377252 |
| Start |
20143312:20143312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559G>T |
| AA Mutation |
p.Glu187Ter(p.E187*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|