| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298527 |
| Start |
9995240:9995240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.445A>T |
| AA Mutation |
p.Ile149Phe(p.I149F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298527 |
| Start |
9998374:9998374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.71C>A |
| AA Mutation |
p.Ser24Tyr(p.S24Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298527 |
| Start |
9995207:9995207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.478G>T |
| AA Mutation |
p.Gly160Ter(p.G160*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |