| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324071 |
| Start |
40991400:40991400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.95C>T |
| AA Mutation |
p.Pro32Leu(p.P32L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324071 |
| Start |
41009296:41009296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.723C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324071 |
| Start |
41012402:41012402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1069C>T |
| AA Mutation |
p.Gln357Ter(p.Q357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |