| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000447510 |
| Start |
16024357:16024357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632A>T |
| AA Mutation |
p.Gln211Leu(p.Q211L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000447510 |
| Start |
16075876:16075876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.31C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000447510 |
| Start |
16024347:16024347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368213921
|
| CDS Mutation |
c.642T>A |
| AA Mutation |
p.Tyr214Ter(p.Y214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |