| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377890 |
| Start |
62888652:62888652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1852C>T |
| AA Mutation |
p.Pro618Ser(p.P618S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377890 |
| Start |
62885330:62885330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1275C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377890 |
| Start |
62882057:62882057(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.899delA |
| AA Mutation |
p.Lys300ArgfsTer31(p.K300Rfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |