| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357988 |
| Start |
53995712:53995712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1412G>A |
| AA Mutation |
p.Arg471Lys(p.R471K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357988 |
| Start |
54014507:54014507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.761A>G |
| AA Mutation |
p.Asn254Ser(p.N254S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000357988 |
| Start |
53944132:53944132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2757+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |