| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360428 |
| Start |
31006982:31006982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1813G>A |
| AA Mutation |
p.Gly605Arg(p.G605R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360428 |
| Start |
31001654:31001654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2199T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360428 |
| Start |
31007030:31007030(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1765delA |
| AA Mutation |
p.Met589TrpfsTer7(p.M589Wfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |