| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265708 |
| Start |
39788217:39788217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.677C>T |
| AA Mutation |
p.Ser226Phe(p.S226F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265708 |
| Start |
39821136:39821136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.379A>G |
| AA Mutation |
p.Ile127Val(p.I127V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265708 |
| Start |
39821150:39821150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.365A>T |
| AA Mutation |
p.Asn122Ile(p.N122I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |