| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324333 |
| Start |
4117860:4117860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759183029
|
| CDS Mutation |
c.1153G>C |
| AA Mutation |
p.Gly385Arg(p.G385R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324333 |
| Start |
4118024:4118024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.989C>T |
| AA Mutation |
p.Ala330Val(p.A330V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324333 |
| Start |
3898836:3898836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1519-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |