| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269122 |
| Start |
59647643:59647643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496C>A |
| AA Mutation |
p.Leu166Ile(p.L166I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269122 |
| Start |
59663929:59663929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1456A>G |
| AA Mutation |
p.Asn486Asp(p.N486D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269122 |
| Start |
59681323:59681323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3094G>A |
| AA Mutation |
p.Ala1032Thr(p.A1032T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |