| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963741:48963741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1080G>T |
| AA Mutation |
p.Met360Ile(p.M360I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963126:48963126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758780668
|
| CDS Mutation |
c.1695T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000406846 |
| Start |
49068291:49068291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.153-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |