| Mutation ID |
35 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429713 |
| Start |
119031850:119031850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3075C>G |
| AA Mutation |
p.Tyr1025Ter(p.Y1025*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119027297:119027298(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.928_929insATCTTG |
| AA Mutation |
p.Ser310delinsTyrLeuAla(p.S310delinsYLA) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYNPO2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119031852:119031852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754364106
|
| CDS Mutation |
c.3077C>T |
| AA Mutation |
p.Ser1026Leu(p.S1026L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119030151:119030151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1376T>A |
| AA Mutation |
p.Val459Asp(p.V459D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119026938:119026938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.569C>T |
| AA Mutation |
p.Ala190Val(p.A190V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119030217:119030217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1442T>C |
| AA Mutation |
p.Met481Thr(p.M481T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307142 |
| Start |
119057609:119057609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3461A>G |
| AA Mutation |
p.Glu1154Gly(p.E1154G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000429713 |
| Start |
119027098:119027098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.729G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429713 |
| Start |
119026730:119026730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.361C>T |
| AA Mutation |
p.Arg121Ter(p.R121*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429713 |
| Start |
119023433:119023433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.109C>T |
| AA Mutation |
p.Arg37Ter(p.R37*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|