| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334529 |
| Start |
112471299:112471299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.460C>A |
| AA Mutation |
p.Leu154Ile(p.L154I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334529 |
| Start |
112479645:112479645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.213G>T |
| AA Mutation |
p.Trp71Cys(p.W71C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334529 |
| Start |
112466230:112466230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.748G>T |
| AA Mutation |
p.Glu250Ter(p.E250*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |