| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381312 |
| Start |
1363551:1363551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.554C>T |
| AA Mutation |
p.Ala185Val(p.A185V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381312 |
| Start |
1270970:1270970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1177A>G |
| AA Mutation |
p.Ile393Val(p.I393V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381312 |
| Start |
1363508:1363508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.597C>A |
| AA Mutation |
p.His199Gln(p.H199Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |