| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218439 |
| Start |
54811035:54811035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.752G>A |
| AA Mutation |
p.Arg251His(p.R251H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218439 |
| Start |
54810909:54810909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.626T>C |
| AA Mutation |
p.Leu209Pro(p.L209P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218439 |
| Start |
54810119:54810119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443C>G |
| AA Mutation |
p.Ala148Gly(p.A148G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |