| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000238497 |
| Start |
63400591:63400591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.597A>G |
| AA Mutation |
p.Ile199Met(p.I199M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000238497 |
| Start |
63403809:63403809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.382C>T |
| AA Mutation |
p.Arg128Ter(p.R128*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000238497 |
| Start |
63400704:63400704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.485-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |