| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260665 |
| Start |
43974239:43974239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1066C>T |
| AA Mutation |
p.Gln356Ter(p.Q356*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000260665 |
| Start |
43949661:43949661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1678-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000260665 |
| Start |
43934880:43934880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2505-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |