| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246949 |
| Start |
3657234:3657234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.597A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246949 |
| Start |
3657210:3657210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.573C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000246949 |
| Start |
3656753:3656753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.436G>T |
| AA Mutation |
p.Glu146Ter(p.E146*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |