Gene >> ERCC4
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311895 |
| Start |
13948330:13948330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150077735
|
| CDS Mutation |
c.2734G>A |
| AA Mutation |
p.Gly912Arg(p.G912R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000311895 |
| Start |
13935745:13935745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1811+2C>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |