| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86450562:86450562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1985-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86443785:86443785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1489-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CLCA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86453465:86453465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2252C>T |
| AA Mutation |
p.Ser751Leu(p.S751L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86438966:86438966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs55906076
|
| CDS Mutation |
c.1063G>A |
| AA Mutation |
p.Asp355Asn(p.D355N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86455404:86455404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2709G>T |
| AA Mutation |
p.Leu903Phe(p.L903F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86438965:86438965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1062C>A |
| AA Mutation |
p.Phe354Leu(p.F354L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86440220:86440220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276C>A |
| AA Mutation |
p.Leu426Ile(p.L426I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370565 |
| Start |
86455503:86455503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2808A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370565 |
| Start |
86434524:86434524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.751G>T |
| AA Mutation |
p.Glu251Ter(p.E251*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|