| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158086976:158086977(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs531633531
|
| CDS Mutation |
c.3338dupC |
| AA Mutation |
p.Pro1114SerfsTer48(p.P1114Sfs*48) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158093029:158093030(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761465339
|
| CDS Mutation |
c.3674dupC |
| AA Mutation |
p.Leu1226ThrfsTer32(p.L1226Tfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYNJ2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158066485:158066485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767505170
|
| CDS Mutation |
c.1567G>A |
| AA Mutation |
p.Glu523Lys(p.E523K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158093017:158093017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3657G>T |
| AA Mutation |
p.Glu1219Asp(p.E1219D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158095901:158095901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4028C>A |
| AA Mutation |
p.Ala1343Asp(p.A1343D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355585 |
| Start |
158074690:158074690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2244G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|