| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428956 |
| Start |
31996068:31996068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3344G>A |
| AA Mutation |
p.Gly1115Asp(p.G1115D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428956 |
| Start |
31996035:31996035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3311C>T |
| AA Mutation |
p.Ser1104Phe(p.S1104F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000428956 |
| Start |
31994617:31994617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750793046
|
| CDS Mutation |
c.2712G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |