| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000190983 |
| Start |
44727228:44727228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.674T>A |
| AA Mutation |
p.Leu225Gln(p.L225Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000190983 |
| Start |
44715395:44715395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5G>A |
| AA Mutation |
p.Arg2Lys(p.R2K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000190983 |
| Start |
44727181:44727181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.627G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |