| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49747155:49747155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756155759
|
| CDS Mutation |
c.1041C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49738073:49738073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2392-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OGDHL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49750891:49750891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375656495
|
| CDS Mutation |
c.844G>A |
| AA Mutation |
p.Asp282Asn(p.D282N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49737796:49737796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2580A>T |
| AA Mutation |
p.Gln860His(p.Q860H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49746767:49746767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760518509
|
| CDS Mutation |
c.1279G>A |
| AA Mutation |
p.Val427Ile(p.V427I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49744694:49744694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1688A>C |
| AA Mutation |
p.Lys563Thr(p.K563T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49746848:49746848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199864072
|
| CDS Mutation |
c.1198G>A |
| AA Mutation |
p.Ala400Thr(p.A400T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49740736:49740736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2114G>A |
| AA Mutation |
p.Ser705Asn(p.S705N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49745932:49745932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1342C>G |
| AA Mutation |
p.Pro448Ala(p.P448A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374103 |
| Start |
49745978:49745978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1297-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|