| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000458420 |
| Start |
140563108:140563108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2387C>G |
| AA Mutation |
p.Ser796Ter(p.S796*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140459702:140459703(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1158dupA |
| AA Mutation |
p.His387ThrfsTer49(p.H387Tfs*49) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CLSTN2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140466699:140466699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Arg438Cys(p.R438C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140546581:140546581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202013971
|
| CDS Mutation |
c.1574G>A |
| AA Mutation |
p.Arg525His(p.R525H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140556625:140556625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1787C>T |
| AA Mutation |
p.Ala596Val(p.A596V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140566173:140566173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2788G>C |
| AA Mutation |
p.Gly930Arg(p.G930R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140532385:140532385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1406A>G |
| AA Mutation |
p.Tyr469Cys(p.Y469C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140421195:140421195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141120664
|
| CDS Mutation |
c.708C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140558844:140558844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144701273
|
| CDS Mutation |
c.2028C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140466680:140466680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766849608
|
| CDS Mutation |
c.1293C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|