| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305596 |
| Start |
30353500:30353500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.676G>A |
| AA Mutation |
p.Ala226Thr(p.A226T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305596 |
| Start |
30354242:30354242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751813994
|
| CDS Mutation |
c.159G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305596 |
| Start |
30353037:30353037(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.974delC |
| AA Mutation |
p.Pro325LeufsTer58(p.P325Lfs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |