| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336232 |
| Start |
62993290:62993290(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1576G>A |
| AA Mutation |
p.Ala526Thr(p.A526T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000336232 |
| Start |
63000719:63000719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.437+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000336232 |
| Start |
63014956:63014956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |