| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87422191:87422191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2246A>T |
| AA Mutation |
p.Gln749Leu(p.Q749L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87418565:87418565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2450T>A |
| AA Mutation |
p.Leu817His(p.L817H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87444942:87444942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1039G>A |
| AA Mutation |
p.Val347Ile(p.V347I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |