| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35280972:35280972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771969810
|
| CDS Mutation |
c.1316C>T |
| AA Mutation |
p.Ala439Val(p.A439V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278379 |
| Start |
35265725:35265725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1455T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000278379 |
| Start |
35317485:35317485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.49C>T |
| AA Mutation |
p.Arg17Ter(p.R17*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |