| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216605 |
| Start |
64419887:64419887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.689G>T |
| AA Mutation |
p.Gly230Val(p.G230V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216605 |
| Start |
64453838:64453838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2542A>C |
| AA Mutation |
p.Lys848Gln(p.K848Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216605 |
| Start |
64448237:64448237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2199A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |