| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442544 |
| Start |
52752149:52752149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558026226
|
| CDS Mutation |
c.187G>A |
| AA Mutation |
p.Ala63Thr(p.A63T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442544 |
| Start |
53066148:53066148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1243C>A |
| AA Mutation |
p.Leu415Ile(p.L415I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000442544 |
| Start |
52923837:52923837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |