| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216127 |
| Start |
35551901:35551901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.670G>A |
| AA Mutation |
p.Glu224Lys(p.E224K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216127 |
| Start |
35551977:35551977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.746C>A |
| AA Mutation |
p.Ala249Asp(p.A249D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216127 |
| Start |
35546882:35546882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.73C>G |
| AA Mutation |
p.Leu25Val(p.L25V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |