| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379516 |
| Start |
122801926:122801926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.448G>T |
| AA Mutation |
p.Glu150Ter(p.E150*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379516 |
| Start |
122827436:122827436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1414C>T |
| AA Mutation |
p.Arg472Ter(p.R472*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SNX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379516 |
| Start |
122827386:122827386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757196187
|
| CDS Mutation |
c.1364C>T |
| AA Mutation |
p.Ala455Val(p.A455V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379516 |
| Start |
122827594:122827594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1457T>G |
| AA Mutation |
p.Phe486Cys(p.F486C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379516 |
| Start |
122775168:122775169(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.66_67dupGG |
| AA Mutation |
p.Asp23GlyfsTer14(p.D23Gfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|