| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439458 |
| Start |
209777378:209777378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.419G>A |
| AA Mutation |
p.Ser140Asn(p.S140N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000439458 |
| Start |
209786185:209786185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.720T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000439458 |
| Start |
209773128:209773128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.127G>T |
| AA Mutation |
p.Glu43Ter(p.E43*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |