| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360578 |
| Start |
677901:677901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370031409
|
| CDS Mutation |
c.160G>A |
| AA Mutation |
p.Ala54Thr(p.A54T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360578 |
| Start |
677797:677797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774409762
|
| CDS Mutation |
c.264C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360578 |
| Start |
677937:677937(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.124delG |
| AA Mutation |
p.Ala42GlnfsTer44(p.A42Qfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |