| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379655 |
| Start |
57762203:57762203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1685A>C |
| AA Mutation |
p.Lys562Thr(p.K562T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379655 |
| Start |
57771392:57771392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.571A>G |
| AA Mutation |
p.Met191Val(p.M191V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379655 |
| Start |
57771369:57771369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |