| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219919 |
| Start |
58175002:58175002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145164884
|
| CDS Mutation |
c.461C>T |
| AA Mutation |
p.Pro154Leu(p.P154L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219919 |
| Start |
58173166:58173166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.337G>T |
| AA Mutation |
p.Ala113Ser(p.A113S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219919 |
| Start |
58138592:58138592(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.31delA |
| AA Mutation |
p.Ser11AlafsTer8(p.S11Afs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |