| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37584083:37584083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1129G>A |
| AA Mutation |
p.Ala377Thr(p.A377T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37584897:37584897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.927C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379747 |
| Start |
37584896:37584896(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.928delC |
| AA Mutation |
p.Gln310SerfsTer22(p.Q310Sfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |