| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439617 |
| Start |
231694405:231694405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139420445
|
| CDS Mutation |
c.647C>T |
| AA Mutation |
p.Ser216Leu(p.S216L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439617 |
| Start |
231694599:231694599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367543086
|
| CDS Mutation |
c.841G>A |
| AA Mutation |
p.Ala281Thr(p.A281T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000439617 |
| Start |
231694209:231694209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.451G>T |
| AA Mutation |
p.Asp151Tyr(p.D151Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |