| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134928873:134928873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.191A>T |
| AA Mutation |
p.Asp64Val(p.D64V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134958282:134958282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2053G>A |
| AA Mutation |
p.Ala685Thr(p.A685T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134958219:134958219(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1992delA |
| AA Mutation |
p.Lys664AsnfsTer8(p.K664Nfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |