| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614239 |
| Start |
36942294:36942294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.770G>A |
| AA Mutation |
p.Arg257Gln(p.R257Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000614239 |
| Start |
36940710:36940710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371390635
|
| CDS Mutation |
c.498G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000614239 |
| Start |
36943098:36943098(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1194delC |
| AA Mutation |
p.Glu399LysfsTer2(p.E399Kfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |