| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409487 |
| Start |
144398419:144398419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2768A>T |
| AA Mutation |
p.Tyr923Phe(p.Y923F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000409487 |
| Start |
144399072:144399072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2115C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000409487 |
| Start |
144424832:144424832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367G>T |
| AA Mutation |
p.Glu123Ter(p.E123*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |