| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261590 |
| Start |
31546595:31546595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149617776
|
| CDS Mutation |
c.3209C>T |
| AA Mutation |
p.Thr1070Met(p.T1070M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261590 |
| Start |
31536274:31536274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1496T>G |
| AA Mutation |
p.Leu499Arg(p.L499R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261590 |
| Start |
31538762:31538762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1663C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |