| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317961 |
| Start |
19707677:19707677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3469G>A |
| AA Mutation |
p.Ala1157Thr(p.A1157T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317961 |
| Start |
19715731:19715731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2222A>G |
| AA Mutation |
p.Tyr741Cys(p.Y741C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317961 |
| Start |
19739596:19739596(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.589delC |
| AA Mutation |
p.Arg198AspfsTer36(p.R198Dfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |