| ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263431 |
| Start |
53891720:53891720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.576T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263431 |
| Start |
53906422:53906422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1870C>T |
| AA Mutation |
p.Arg624Ter(p.R624*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000263431 |
| Start |
53898438:53898438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1093-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |