| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344836 |
| Start |
8894850:8894850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3045G>T |
| AA Mutation |
p.Glu1015Asp(p.E1015D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344836 |
| Start |
8898592:8898592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2579C>T |
| AA Mutation |
p.Thr860Ile(p.T860I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344836 |
| Start |
8906542:8906542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Gln438Ter(p.Q438*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |