| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375779 |
| Start |
31733923:31733923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.188A>G |
| AA Mutation |
p.Gln63Arg(p.Q63R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375779 |
| Start |
31730926:31730926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752246685
|
| CDS Mutation |
c.642C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375779 |
| Start |
31733925:31733925(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.186delG |
| AA Mutation |
p.Gln63SerfsTer37(p.Q63Sfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |