| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342376 |
| Start |
54742039:54742039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.130A>G |
| AA Mutation |
p.Thr44Ala(p.T44A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342376 |
| Start |
54751684:54751684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758587869
|
| CDS Mutation |
c.751T>A |
| AA Mutation |
p.Ser251Thr(p.S251T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342376 |
| Start |
54742244:54742244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.335C>G |
| AA Mutation |
p.Ser112Ter(p.S112*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |