| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381951 |
| Start |
3197595:3197595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.77T>A |
| AA Mutation |
p.Val26Asp(p.V26D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381951 |
| Start |
3198164:3198164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646T>C |
| AA Mutation |
p.Ser216Pro(p.S216P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381951 |
| Start |
3197777:3197777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.259T>A |
| AA Mutation |
p.Leu87Met(p.L87M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |