| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366641 |
| Start |
231421180:231421180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.709G>A |
| AA Mutation |
p.Asp237Asn(p.D237N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366641 |
| Start |
231421090:231421090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769647331
|
| CDS Mutation |
c.799G>A |
| AA Mutation |
p.Glu267Lys(p.E267K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366641 |
| Start |
231366468:231366468(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1224delA |
| AA Mutation |
p.Gly409ValfsTer2(p.G409Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |