| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28015676:28015676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2567C>A |
| AA Mutation |
p.Ala856Asp(p.A856D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28052623:28052623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.536A>G |
| AA Mutation |
p.Gln179Arg(p.Q179R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28027243:28027243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2054-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |