| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264218 |
| Start |
55607332:55607332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555847482
|
| CDS Mutation |
c.326C>T |
| AA Mutation |
p.Ser109Leu(p.S109L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264218 |
| Start |
55605338:55605338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.372G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264218 |
| Start |
55600529:55600529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.482T>G |
| AA Mutation |
p.Leu161Ter(p.L161*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |