| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341165 |
| Start |
43193501:43193501(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1387C>T |
| AA Mutation |
p.His463Tyr(p.H463Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341165 |
| Start |
43194991:43194991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1702A>G |
| AA Mutation |
p.Ile568Val(p.I568V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000341165 |
| Start |
43195035:43195035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1746T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |