| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366971 |
| Start |
212888530:212888530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1349C>T |
| AA Mutation |
p.Ala450Val(p.A450V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366971 |
| Start |
212858535:212858535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.83G>A |
| AA Mutation |
p.Gly28Asp(p.G28D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000366971 |
| Start |
212895214:212895214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1594-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |