| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368248 |
| Start |
127813611:127813611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1030C>T |
| AA Mutation |
p.Arg344Trp(p.R344W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368248 |
| Start |
127855182:127855182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141623918
|
| CDS Mutation |
c.98T>G |
| AA Mutation |
p.Ile33Ser(p.I33S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368248 |
| Start |
127813495:127813495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1146C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |