| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43093595:43093595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1936A>G |
| AA Mutation |
p.Ser646Gly(p.S646G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43071145:43071145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773524529
|
| CDS Mutation |
c.4769T>C |
| AA Mutation |
p.Val1590Ala(p.V1590A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357654 |
| Start |
43094591:43094591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.940G>A |
| AA Mutation |
p.Ala314Thr(p.A314T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |