| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358170 |
| Start |
207761354:207761354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.581C>T |
| AA Mutation |
p.Ala194Val(p.A194V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358170 |
| Start |
207757026:207757026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.110A>T |
| AA Mutation |
p.Glu37Val(p.E37V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358170 |
| Start |
207757109:207757109(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.198delA |
| AA Mutation |
p.Gly67AspfsTer40(p.G67Dfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |