| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000376663 |
| Start |
22329126:22329126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.649A>T |
| AA Mutation |
p.Arg217Trp(p.R217W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376663 |
| Start |
22328626:22328626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376663 |
| Start |
22328672:22328672(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547delA |
| AA Mutation |
p.Met183TrpfsTer18(p.M183Wfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |