| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130075290:130075290(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2182delC |
| AA Mutation |
p.Arg728GlyfsTer16(p.R728Gfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130108080:130108080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1056-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POTEF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130074747:130074747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs568979816
|
| CDS Mutation |
c.2725G>A |
| AA Mutation |
p.Val909Met(p.V909M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130075334:130075334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2138G>A |
| AA Mutation |
p.Gly713Asp(p.G713D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130120146:130120146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376091861
|
| CDS Mutation |
c.370G>A |
| AA Mutation |
p.Asp124Asn(p.D124N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130120471:130120471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.45G>T |
| AA Mutation |
p.Lys15Asn(p.K15N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130114895:130114895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.796G>A |
| AA Mutation |
p.Glu266Lys(p.E266K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130108058:130108058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1077C>A |
| AA Mutation |
p.Asp359Glu(p.D359E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130075475:130075475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1997A>T |
| AA Mutation |
p.Lys666Ile(p.K666I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130112004:130112004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.908G>T |
| AA Mutation |
p.Arg303Ile(p.R303I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130114882:130114882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809A>C |
| AA Mutation |
p.Lys270Thr(p.K270T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130120042:130120042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759769429
|
| CDS Mutation |
c.474C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130115233:130115233(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.617delA |
| AA Mutation |
p.Lys206ArgfsTer5(p.K206Rfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357462 |
| Start |
130074732:130074732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2740G>T |
| AA Mutation |
p.Glu914Ter(p.E914*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357462 |
| Start |
130075289:130075290(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2182dupC |
| AA Mutation |
p.Arg728ProfsTer54(p.R728Pfs*54) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|