| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000540303 |
| Start |
72076727:72076727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.693C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000540303 |
| Start |
72076781:72076781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773674981
|
| CDS Mutation |
c.747C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000540303 |
| Start |
72074341:72074341(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.149delG |
| AA Mutation |
p.Arg50ProfsTer20(p.R50Pfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |