| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324001 |
| Start |
40397820:40397820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.532C>A |
| AA Mutation |
p.Pro178Thr(p.P178T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324001 |
| Start |
40395662:40395662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752531623
|
| CDS Mutation |
c.2690G>A |
| AA Mutation |
p.Arg897Gln(p.R897Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324001 |
| Start |
40397764:40397764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.588A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |