| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94367650:94367651(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1347_1348insAGTA |
| AA Mutation |
p.Leu450SerfsTer29(p.L450Sfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94385526:94385526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200626556
|
| CDS Mutation |
c.1788+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MCTP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94367735:94367735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1432C>G |
| AA Mutation |
p.Leu478Val(p.L478V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94476777:94476777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2552C>A |
| AA Mutation |
p.Pro851Gln(p.P851Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94339360:94339360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.708G>T |
| AA Mutation |
p.Lys236Asn(p.K236N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94384064:94384064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746941557
|
| CDS Mutation |
c.1625G>A |
| AA Mutation |
p.Arg542Gln(p.R542Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94458176:94458176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769607740
|
| CDS Mutation |
c.2290G>A |
| AA Mutation |
p.Val764Ile(p.V764I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94367701:94367701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1398A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357742 |
| Start |
94401992:94401992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2058C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357742 |
| Start |
94399009:94399009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1837G>T |
| AA Mutation |
p.Glu613Ter(p.E613*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|