| Mutation ID |
34 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103153251:103153251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111987461
|
| CDS Mutation |
c.3034-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103180470:103180470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1084-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CENPE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103108929:103108929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs187303852
|
| CDS Mutation |
c.7885C>T |
| AA Mutation |
p.Arg2629Trp(p.R2629W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103110949:103110949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756483643
|
| CDS Mutation |
c.7603G>A |
| AA Mutation |
p.Gly2535Ser(p.G2535S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103108940:103108940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772361306
|
| CDS Mutation |
c.7874A>G |
| AA Mutation |
p.Gln2625Arg(p.Q2625R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103147454:103147454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4036T>G |
| AA Mutation |
p.Ser1346Ala(p.S1346A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103108839:103108839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774765853
|
| CDS Mutation |
c.7975C>T |
| AA Mutation |
p.Arg2659Cys(p.R2659C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103149270:103149270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3535A>G |
| AA Mutation |
p.Thr1179Ala(p.T1179A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103158875:103158875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2613G>T |
| AA Mutation |
p.Lys871Asn(p.K871N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103180403:103180403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1150G>T |
| AA Mutation |
p.Asp384Tyr(p.D384Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103123073:103123073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6941C>T |
| AA Mutation |
p.Ser2314Leu(p.S2314L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103109000:103109000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7814C>A |
| AA Mutation |
p.Ser2605Tyr(p.S2605Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103110884:103110884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7668T>G |
| AA Mutation |
p.Ile2556Met(p.I2556M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265148 |
| Start |
103145844:103145844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4398A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265148 |
| Start |
103149204:103149204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3601G>T |
| AA Mutation |
p.Glu1201Ter(p.E1201*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265148 |
| Start |
103151305:103151305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3310G>T |
| AA Mutation |
p.Glu1104Ter(p.E1104*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|