| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295113 |
| Start |
182866278:182866278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.275A>G |
| AA Mutation |
p.Tyr92Cys(p.Y92C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295113 |
| Start |
182838587:182838587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.619A>T |
| AA Mutation |
p.Lys207Ter(p.K207*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000295113 |
| Start |
182834967:182834967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.862-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |