| Mutation ID |
41 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393409 |
| Start |
126991434:126991434(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1250delG |
| AA Mutation |
p.Gly417AlafsTer18(p.G417Afs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000393409 |
| Start |
126989030:126989032(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.439_441delTTC |
| AA Mutation |
p.Phe147del(p.F147del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLXNA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393409 |
| Start |
126989126:126989126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372267530
|
| CDS Mutation |
c.533C>T |
| AA Mutation |
p.Pro178Leu(p.P178L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393409 |
| Start |
127004615:127004615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748424966
|
| CDS Mutation |
c.1523C>T |
| AA Mutation |
p.Thr508Met(p.T508M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393409 |
| Start |
127033953:127033953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569026320
|
| CDS Mutation |
c.5627C>T |
| AA Mutation |
p.Ala1876Val(p.A1876V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393409 |
| Start |
127005134:127005134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1788C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393409 |
| Start |
127032414:127032414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5259G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393409 |
| Start |
126989676:126989676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374766048
|
| CDS Mutation |
c.1083G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|