| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397979 |
| Start |
7911479:7911479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.980C>T |
| AA Mutation |
p.Thr327Met(p.T327M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397979 |
| Start |
7911031:7911031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.727G>A |
| AA Mutation |
p.Asp243Asn(p.D243N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000397979 |
| Start |
7910062:7910062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.267-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |