| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85020293:85020294(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1442_1443insAAAG |
| AA Mutation |
p.Ser481ArgfsTer88(p.S481Rfs*88) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85042170:85042170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776547543
|
| CDS Mutation |
c.976+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEMA3D
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85055722:85055722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.856T>G |
| AA Mutation |
p.Cys286Gly(p.C286G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
84999837:84999837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139389337
|
| CDS Mutation |
c.1937C>T |
| AA Mutation |
p.Thr646Met(p.T646M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85055792:85055792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.786C>A |
| AA Mutation |
p.Phe262Leu(p.F262L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85097818:85097818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.299A>C |
| AA Mutation |
p.Lys100Thr(p.K100T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
84999495:84999495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757282057
|
| CDS Mutation |
c.2279G>A |
| AA Mutation |
p.Arg760Gln(p.R760Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85097909:85097909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.208T>G |
| AA Mutation |
p.Phe70Val(p.F70V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284136 |
| Start |
84999500:84999500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2274G>T |
| AA Mutation |
p.Lys758Asn(p.K758N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85006826:85006826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1884G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284136 |
| Start |
85055756:85055756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs552162067
|
| CDS Mutation |
c.822C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284136 |
| Start |
84999490:84999490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2284C>T |
| AA Mutation |
p.Arg762Ter(p.R762*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|