| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45839419:45839419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1421G>A |
| AA Mutation |
p.Ser474Asn(p.S474N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45860804:45860804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771509959
|
| CDS Mutation |
c.4777A>G |
| AA Mutation |
p.Thr1593Ala(p.T1593A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45837500:45837500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1123A>G |
| AA Mutation |
p.Met375Val(p.M375V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |