| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422538 |
| Start |
47711730:47711730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754728916
|
| CDS Mutation |
c.1018G>A |
| AA Mutation |
p.Gly340Ser(p.G340S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422538 |
| Start |
47716366:47716366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753275788
|
| CDS Mutation |
c.685G>A |
| AA Mutation |
p.Ala229Thr(p.A229T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422538 |
| Start |
47712609:47712609(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.879delA |
| AA Mutation |
p.Gly294AlafsTer82(p.G294Afs*82) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |