| Mutation ID |
31 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46258938:46258938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3734+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46242877:46242878(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5350_5351insCTTTGCAAG |
| AA Mutation |
p.Lys1784delinsThrLeuGlnGlu(p.K1784delinsTLQE) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MCM3AP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46251638:46251638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4181G>A |
| AA Mutation |
p.Gly1394Asp(p.G1394D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46235389:46235389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs17183403
|
| CDS Mutation |
c.5822C>T |
| AA Mutation |
p.Ala1941Val(p.A1941V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46240965:46240965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs575883540
|
| CDS Mutation |
c.5479C>T |
| AA Mutation |
p.Leu1827Phe(p.L1827F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46264209:46264209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778113579
|
| CDS Mutation |
c.3243G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000291688 |
| Start |
46272696:46272696(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2330delA |
| AA Mutation |
p.Glu777GlyfsTer3(p.E777Gfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000291688 |
| Start |
46284095:46284095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1192G>T |
| AA Mutation |
p.Glu398Ter(p.E398*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|