| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206544 |
| Start |
23346749:23346749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1516C>T |
| AA Mutation |
p.Arg506Trp(p.R506W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206544 |
| Start |
23351800:23351800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.323T>A |
| AA Mutation |
p.Ile108Asn(p.I108N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000206544 |
| Start |
23347151:23347151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771629250
|
| CDS Mutation |
c.1278C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |