| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311895 |
| Start |
13930804:13930804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.887A>T |
| AA Mutation |
p.Gln296Leu(p.Q296L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311895 |
| Start |
13926641:13926641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.469A>T |
| AA Mutation |
p.Lys157Ter(p.K157*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311895 |
| Start |
13948060:13948060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2464C>T |
| AA Mutation |
p.Gln822Ter(p.Q822*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |