| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348956 |
| Start |
103522366:103522366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.128G>A |
| AA Mutation |
p.Arg43His(p.R43H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348956 |
| Start |
103519901:103519901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1109G>A |
| AA Mutation |
p.Gly370Asp(p.G370D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000348956 |
| Start |
103519990:103519990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1020C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |