| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295718 |
| Start |
219291486:219291486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2713A>T |
| AA Mutation |
p.Ile905Phe(p.I905F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295718 |
| Start |
219302737:219302737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.478C>T |
| AA Mutation |
p.Pro160Ser(p.P160S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000295718 |
| Start |
219307444:219307444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.280G>T |
| AA Mutation |
p.Gly94Ter(p.G94*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |