| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324306 |
| Start |
100030272:100030272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.696G>T |
| AA Mutation |
p.Met232Ile(p.M232I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324306 |
| Start |
100033406:100033406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.901T>G |
| AA Mutation |
p.Phe301Val(p.F301V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324306 |
| Start |
100033517:100033517(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1018delA |
| AA Mutation |
p.Thr340ProfsTer21(p.T340Pfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |