| Mutation ID |
26 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000310758 |
| Start |
37225031:37225031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.550-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000310758 |
| Start |
37233094:37233094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.549+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELMO1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310758 |
| Start |
37213376:37213376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.913C>A |
| AA Mutation |
p.Leu305Met(p.L305M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310758 |
| Start |
36870410:36870410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747396168
|
| CDS Mutation |
c.1888G>A |
| AA Mutation |
p.Ala630Thr(p.A630T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310758 |
| Start |
36894903:36894903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1552C>T |
| AA Mutation |
p.Arg518Cys(p.R518C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310758 |
| Start |
36878058:36878058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1774G>A |
| AA Mutation |
p.Glu592Lys(p.E592K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310758 |
| Start |
37342646:37342646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759462213
|
| CDS Mutation |
c.45G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|