| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218147 |
| Start |
130028788:130028788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4232A>T |
| AA Mutation |
p.Glu1411Val(p.E1411V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218147 |
| Start |
130025181:130025181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3880C>T |
| AA Mutation |
p.His1294Tyr(p.H1294Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000218147 |
| Start |
130051894:130051894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4731T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |