| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259808 |
| Start |
3113212:3113212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1889A>T |
| AA Mutation |
p.Gln630Leu(p.Q630L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259808 |
| Start |
3105625:3105625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1150T>C |
| AA Mutation |
p.Tyr384His(p.Y384H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000259808 |
| Start |
3077932:3077932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762078179
|
| CDS Mutation |
c.318C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |