| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101543240:101543240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.21-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101552775:101552776(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.277_278insTTC |
| AA Mutation |
p.Glu93delinsValGln(p.E93delinsVQ) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GRHL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101558717:101558717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.583C>G |
| AA Mutation |
p.Pro195Ala(p.P195A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101599059:101599059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145433541
|
| CDS Mutation |
c.1006G>A |
| AA Mutation |
p.Asp336Asn(p.D336N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101543297:101543297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750332552
|
| CDS Mutation |
c.77G>A |
| AA Mutation |
p.Arg26Gln(p.R26Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101558500:101558500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.366G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101577500:101577500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.984G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101492788:101492791(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.20+3_20+6delAAGT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|