| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98708769:98708769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1068-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98726842:98726842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374661720
|
| CDS Mutation |
c.21+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC15A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98688268:98688268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758841105
|
| CDS Mutation |
c.1663A>G |
| AA Mutation |
p.Thr555Ala(p.T555A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98706223:98706223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372092782
|
| CDS Mutation |
c.1180G>A |
| AA Mutation |
p.Glu394Lys(p.E394K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98686278:98686278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778277283
|
| CDS Mutation |
c.1847C>T |
| AA Mutation |
p.Ser616Leu(p.S616L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98688500:98688500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1544C>T |
| AA Mutation |
p.Ala515Val(p.A515V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98726384:98726384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.87C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|