| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327946 |
| Start |
86206516:86206516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762175531
|
| CDS Mutation |
c.368C>T |
| AA Mutation |
p.Ser123Leu(p.S123L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327946 |
| Start |
85613603:85613603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2405A>G |
| AA Mutation |
p.Gln802Arg(p.Q802R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000327946 |
| Start |
85602394:85602394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2909C>A |
| AA Mutation |
p.Ser970Ter(p.S970*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |