| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75761183:75761183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs794727013
|
| CDS Mutation |
c.1007G>A |
| AA Mutation |
p.Ser336Asn(p.S336N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75724803:75724803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.16G>T |
| AA Mutation |
p.Gly6Trp(p.G6W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370841 |
| Start |
75734789:75734789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.388-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |