| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263923 |
| Start |
55114930:55114930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602A>T |
| AA Mutation |
p.Glu201Val(p.E201V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263923 |
| Start |
55098720:55098720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749701671
|
| CDS Mutation |
c.2350A>G |
| AA Mutation |
p.Ile784Val(p.I784V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263923 |
| Start |
55090021:55090021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3127A>T |
| AA Mutation |
p.Lys1043Ter(p.K1043*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |