| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369980 |
| Start |
154018769:154018769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559G>A |
| AA Mutation |
p.Val187Met(p.V187M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369980 |
| Start |
154016554:154016554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1119C>A |
| AA Mutation |
p.Ser373Arg(p.S373R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369980 |
| Start |
154011906:154011906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2092G>T |
| AA Mutation |
p.Glu698Ter(p.E698*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |