| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376753 |
| Start |
11668746:11668746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.88G>T |
| AA Mutation |
p.Ala30Ser(p.A30S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376753 |
| Start |
11673829:11673829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376625482
|
| CDS Mutation |
c.860G>A |
| AA Mutation |
p.Arg287Gln(p.R287Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376753 |
| Start |
11668836:11668836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.178C>T |
| AA Mutation |
p.Arg60Ter(p.R60*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |