| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215882 |
| Start |
19176176:19176176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.890A>G |
| AA Mutation |
p.Tyr297Cys(p.Y297C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215882 |
| Start |
19177794:19177794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.374T>C |
| AA Mutation |
p.Leu125Pro(p.L125P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000215882 |
| Start |
19176483:19176483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781833926
|
| CDS Mutation |
c.759G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |