| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252229 |
| Start |
31505632:31505632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371170217
|
| CDS Mutation |
c.86G>A |
| AA Mutation |
p.Arg29His(p.R29H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252229 |
| Start |
31506274:31506274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.457C>T |
| AA Mutation |
p.Pro153Ser(p.P153S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252229 |
| Start |
31506142:31506142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.326-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |