| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296777 |
| Start |
71719307:71719307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367802978
|
| CDS Mutation |
c.14G>A |
| AA Mutation |
p.Arg5His(p.R5H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296777 |
| Start |
71720545:71720545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.281C>T |
| AA Mutation |
p.Ala94Val(p.A94V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000296777 |
| Start |
71719296:71719296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |