| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202773276:202773276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.418G>A |
| AA Mutation |
p.Glu140Lys(p.E140K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202745865:202745865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2316G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367265 |
| Start |
202731016:202731016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4069C>T |
| AA Mutation |
p.Gln1357Ter(p.Q1357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |