| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288235 |
| Start |
59174204:59174204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2086G>C |
| AA Mutation |
p.Asp696His(p.D696H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288235 |
| Start |
59208794:59208794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1417G>T |
| AA Mutation |
p.Val473Leu(p.V473L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288235 |
| Start |
59158330:59158330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2835T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |