| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110257819:110257819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646T>G |
| AA Mutation |
p.Leu216Val(p.L216V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343115 |
| Start |
110237608:110237608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1135C>T |
| AA Mutation |
p.Arg379Ter(p.R379*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343115 |
| Start |
110237602:110237602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1141C>T |
| AA Mutation |
p.Arg381Ter(p.R381*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |