| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77556699:77556699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.147C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77604356:77604356(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs752946345
|
| CDS Mutation |
c.1104delA |
| AA Mutation |
p.Asp369ThrfsTer28(p.D369Tfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCEL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77559836:77559836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780697621
|
| CDS Mutation |
c.194G>A |
| AA Mutation |
p.Arg65Gln(p.R65Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77597574:77597574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.782A>G |
| AA Mutation |
p.Asn261Ser(p.N261S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77637147:77637147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1791G>T |
| AA Mutation |
p.Glu597Asp(p.E597D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77613914:77613914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1410A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|