| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367698 |
| Start |
173909626:173909626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1079G>A |
| AA Mutation |
p.Gly360Asp(p.G360D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367698 |
| Start |
173907479:173907479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1189T>G |
| AA Mutation |
p.Ser397Ala(p.S397A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367698 |
| Start |
173911798:173911798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.624+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |