| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354436 |
| Start |
69691034:69691034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1815A>C |
| AA Mutation |
p.Glu605Asp(p.E605D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354436 |
| Start |
69693851:69693851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760113102
|
| CDS Mutation |
c.3972C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354436 |
| Start |
69692256:69692256(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2378delG |
| AA Mutation |
p.Gly793GlufsTer10(p.G793Efs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |