| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368530 |
| Start |
154172938:154172938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.536G>A |
| AA Mutation |
p.Arg179His(p.R179H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368530 |
| Start |
154173114:154173114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.465T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368530 |
| Start |
154191995:154191996(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.23dupA |
| AA Mutation |
p.Met9AspfsTer19(p.M9Dfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |