| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372530 |
| Start |
43433333:43433333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367899886
|
| CDS Mutation |
c.1353G>A |
| AA Mutation |
p.Met451Ile(p.M451I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372530 |
| Start |
43438673:43438673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2005G>A |
| AA Mutation |
p.Ala669Thr(p.A669T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372530 |
| Start |
43450064:43450064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4452A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |