| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296921 |
| Start |
171311400:171311400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677C>T |
| AA Mutation |
p.Ala226Val(p.A226V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296921 |
| Start |
171309444:171309444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.79C>A |
| AA Mutation |
p.Pro27Thr(p.P27T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296921 |
| Start |
171311468:171311468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.745C>T |
| AA Mutation |
p.Gln249Ter(p.Q249*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |