Gene >> ELN
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358929 |
| Start |
74056311:74056311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782798160
|
| CDS Mutation |
c.1191C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000358929 |
| Start |
74059943:74059960(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1576_1593delTTGGCTCCTGGAGTTGGC |
| AA Mutation |
p.Leu526_Gly531del(p.L526_G531del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |