| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61734231:61734231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.974A>T |
| AA Mutation |
p.Tyr325Phe(p.Y325F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61741163:61741163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761548161
|
| CDS Mutation |
c.2068G>A |
| AA Mutation |
p.Val690Met(p.V690M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61740863:61740863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1768C>T |
| AA Mutation |
p.Pro590Ser(p.P590S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |