| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246672 |
| Start |
40097203:40097203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.232G>T |
| AA Mutation |
p.Asp78Tyr(p.D78Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246672 |
| Start |
40095001:40095001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1368C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000246672 |
| Start |
40095729:40095730(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.962_963delGT |
| AA Mutation |
p.Gly321GlufsTer21(p.G321Efs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |