| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185307041:185307041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.630A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185300106:185300107(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1393_1394insATAC |
| AA Mutation |
p.Leu465TyrfsTer9(p.L465Yfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IVNS1ABP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185300083:185300083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1417C>T |
| AA Mutation |
p.Pro473Ser(p.P473S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185301151:185301151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.941T>C |
| AA Mutation |
p.Val314Ala(p.V314A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185300055:185300055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1445G>C |
| AA Mutation |
p.Cys482Ser(p.C482S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185298050:185298050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1914G>T |
| AA Mutation |
p.Lys638Asn(p.K638N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185300531:185300531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752321106
|
| CDS Mutation |
c.1148G>A |
| AA Mutation |
p.Arg383Gln(p.R383Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185308810:185308810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.347G>A |
| AA Mutation |
p.Arg116Gln(p.R116Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367498 |
| Start |
185301050:185301050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370542961
|
| CDS Mutation |
c.1042G>A |
| AA Mutation |
p.Glu348Lys(p.E348K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|