| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263321 |
| Start |
89227932:89227932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104894315
|
| CDS Mutation |
c.1146C>A |
| AA Mutation |
p.Asn382Lys(p.N382K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263321 |
| Start |
89191394:89191394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1012T>G |
| AA Mutation |
p.Phe338Val(p.F338V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263321 |
| Start |
89178199:89178199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139926589
|
| CDS Mutation |
c.246C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |