| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000524381 |
| Start |
133532317:133532317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8A>G |
| AA Mutation |
p.His3Arg(p.H3R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331898 |
| Start |
132436198:132436198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.825A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331898 |
| Start |
132657102:132657102(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.385delC |
| AA Mutation |
p.His129ThrfsTer2(p.H129Tfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |