| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31792744:31792744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1423G>C |
| AA Mutation |
p.Glu475Gln(p.E475Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31794004:31794004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1666A>C |
| AA Mutation |
p.Lys556Gln(p.K556Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31770367:31770367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.381G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |