| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233809 |
| Start |
216660682:216660682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.568G>T |
| AA Mutation |
p.Val190Leu(p.V190L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000233809 |
| Start |
216660627:216660627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776916285
|
| CDS Mutation |
c.513C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233809 |
| Start |
216660628:216660628(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.518delG |
| AA Mutation |
p.Gly173GlufsTer13(p.G173Efs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |