| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377028 |
| Start |
94466632:94466632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.622G>T |
| AA Mutation |
p.Asp208Tyr(p.D208Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377028 |
| Start |
94443527:94443527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1290C>A |
| AA Mutation |
p.Tyr430Ter(p.Y430*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377028 |
| Start |
94439909:94439909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1549G>T |
| AA Mutation |
p.Glu517Ter(p.E517*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |