| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75749508:75749508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765170454
|
| CDS Mutation |
c.798C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75732851:75732851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACADM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75733621:75733621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380C>T |
| AA Mutation |
p.Ser127Phe(p.S127F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75745876:75745876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.670G>A |
| AA Mutation |
p.Val224Met(p.V224M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75732668:75732668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.143T>G |
| AA Mutation |
p.Phe48Cys(p.F48C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75732915:75732915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.279G>T |
| AA Mutation |
p.Glu93Asp(p.E93D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75762758:75762758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1261A>C |
| AA Mutation |
p.Asn421His(p.N421H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370841 |
| Start |
75761221:75761221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148207467
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Ter(p.R349*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|