| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313219 |
| Start |
23255331:23255331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.556C>A |
| AA Mutation |
p.Leu186Ile(p.L186I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313219 |
| Start |
23256579:23256579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.777C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313219 |
| Start |
23249272:23249272(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367delG |
| AA Mutation |
p.Val123LeufsTer6(p.V123Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |