| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347310 |
| Start |
67182929:67182929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.461T>A |
| AA Mutation |
p.Ile154Lys(p.I154K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347310 |
| Start |
67258731:67258731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1493T>G |
| AA Mutation |
p.Leu498Arg(p.L498R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347310 |
| Start |
67200821:67200822(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.578dupT |
| AA Mutation |
p.Leu193PhefsTer24(p.L193Ffs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |