| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117791230:117791230(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1966delC |
| AA Mutation |
p.Val657SerfsTer12(p.V657Sfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000160373 |
| Start |
117791590:117791590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1606C>T |
| AA Mutation |
p.Arg536Ter(p.R536*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CTTNBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117791761:117791761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747514669
|
| CDS Mutation |
c.1435C>T |
| AA Mutation |
p.Arg479Cys(p.R479C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117719634:117719634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4514C>A |
| AA Mutation |
p.Ser1505Tyr(p.S1505Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117735088:117735088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3701C>T |
| AA Mutation |
p.Ser1234Phe(p.S1234F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117725226:117725226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751397467
|
| CDS Mutation |
c.4087G>A |
| AA Mutation |
p.Ala1363Thr(p.A1363T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117728128:117728128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4016C>A |
| AA Mutation |
p.Ser1339Tyr(p.S1339Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117777722:117777722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2567T>C |
| AA Mutation |
p.Val856Ala(p.V856A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117792331:117792331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776837687
|
| CDS Mutation |
c.865C>T |
| AA Mutation |
p.Arg289Cys(p.R289C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117782944:117782944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2290C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000160373 |
| Start |
117791297:117791297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747053718
|
| CDS Mutation |
c.1899G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000160373 |
| Start |
117791379:117791379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1817C>A |
| AA Mutation |
p.Ser606Ter(p.S606*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|