| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7226275:7226275(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs771633429
|
| CDS Mutation |
c.1801delG |
| AA Mutation |
p.Ala601GlnfsTer80(p.A601Qfs*80) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7230429:7230430(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.265_266insACTGGAAGGA |
| AA Mutation |
p.Leu89HisfsTer9(p.L89Hfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DVL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7229619:7229619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770368957
|
| CDS Mutation |
c.716G>A |
| AA Mutation |
p.Arg239Gln(p.R239Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7227429:7227429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1338G>T |
| AA Mutation |
p.Lys446Asn(p.K446N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7226208:7226208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1868A>G |
| AA Mutation |
p.Glu623Gly(p.E623G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000005340 |
| Start |
7226063:7226063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2013T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|