| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296125 |
| Start |
44901640:44901640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.774C>A |
| AA Mutation |
p.Asn258Lys(p.N258K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296125 |
| Start |
44901869:44901869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.909G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000296125 |
| Start |
44887797:44887797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.300+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |