| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21490197:21490197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.394+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21475467:21475467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199622367
|
| CDS Mutation |
c.1216+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RECQL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21471447:21471447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1648C>G |
| AA Mutation |
p.Leu550Val(p.L550V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21477928:21477928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202110155
|
| CDS Mutation |
c.742G>A |
| AA Mutation |
p.Ala248Thr(p.A248T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|