| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263409 |
| Start |
38523460:38523460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.520A>G |
| AA Mutation |
p.Ile174Val(p.I174V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263409 |
| Start |
38490223:38490223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2134T>A |
| AA Mutation |
p.Leu712Ile(p.L712I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263409 |
| Start |
38482164:38482164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2725G>T |
| AA Mutation |
p.Glu909Ter(p.E909*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |