| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170845504:170845505(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs771470806
|
| CDS Mutation |
c.755dupG |
| AA Mutation |
p.Ala253ArgfsTer20(p.X252_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170844044:170844044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.639-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GAD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170836835:170836835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.590T>G |
| AA Mutation |
p.Ile197Ser(p.I197S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170829597:170829597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373042715
|
| CDS Mutation |
c.268C>T |
| AA Mutation |
p.Arg90Cys(p.R90C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170845511:170845511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757G>A |
| AA Mutation |
p.Ala253Thr(p.A253T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170845539:170845539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.785C>T |
| AA Mutation |
p.Ala262Val(p.A262V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|