| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373789 |
| Start |
62262773:62262773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.109G>A |
| AA Mutation |
p.Gly37Arg(p.G37R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373789 |
| Start |
62239692:62239692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.444G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373789 |
| Start |
62217189:62217189(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.949delC |
| AA Mutation |
p.Leu317SerfsTer19(p.L317Sfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |