| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683324:210683324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2927C>A |
| AA Mutation |
p.Pro976Gln(p.P976Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
211019252:211019252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.563T>A |
| AA Mutation |
p.Leu188Gln(p.L188Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683771:210683771(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2480delG |
| AA Mutation |
p.Gly827AlafsTer48(p.G827Afs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |