| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7973764:7973764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.391C>T |
| AA Mutation |
p.Arg131Trp(p.R131W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7991722:7991722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.94A>G |
| AA Mutation |
p.Thr32Ala(p.T32A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7963530:7963530(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934delG |
| AA Mutation |
p.Asp312ThrfsTer27(p.D312Tfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |