| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116548465:116548465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.307C>A |
| AA Mutation |
p.Leu103Met(p.L103M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116556061:116556061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.873C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369221 |
| Start |
116559208:116559209(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.986dupA |
| AA Mutation |
p.Asp329GlufsTer2(p.D329Efs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |