| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359195 |
| Start |
106868532:106868532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.971C>T |
| AA Mutation |
p.Pro324Leu(p.P324L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359195 |
| Start |
106869529:106869529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1968T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359195 |
| Start |
106905274:106905274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3196A>T |
| AA Mutation |
p.Lys1066Ter(p.K1066*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |