| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80286464:80286464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201557946
|
| CDS Mutation |
c.599G>A |
| AA Mutation |
p.Arg200Gln(p.R200Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80267043:80267043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.219C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312465 |
| Start |
80274988:80274988(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs35667286
|
| CDS Mutation |
c.441delA |
| AA Mutation |
p.Gly148GlufsTer45(p.G148Efs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |