| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46964969:46964969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1134+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46992947:46992947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.87-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GABRA4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46928511:46928511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770261411
|
| CDS Mutation |
c.1379G>A |
| AA Mutation |
p.Arg460Gln(p.R460Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46992864:46992864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.169G>A |
| AA Mutation |
p.Asp57Asn(p.D57N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46928493:46928493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115206335
|
| CDS Mutation |
c.1397G>A |
| AA Mutation |
p.Arg466Gln(p.R466Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46974326:46974326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.627G>T |
| AA Mutation |
p.Glu209Asp(p.E209D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264318 |
| Start |
46965108:46965108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.996G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|