| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357396 |
| Start |
41808828:41808828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.440G>A |
| AA Mutation |
p.Gly147Asp(p.G147D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357396 |
| Start |
41797651:41797651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.127C>T |
| AA Mutation |
p.Leu43Phe(p.L43F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357396 |
| Start |
41797812:41797812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782428338
|
| CDS Mutation |
c.288C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |