| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000052754 |
| Start |
91158421:91158421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.413A>G |
| AA Mutation |
p.Lys138Arg(p.K138R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000052754 |
| Start |
91146126:91146126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1012G>C |
| AA Mutation |
p.Glu338Gln(p.E338Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000052754 |
| Start |
91157138:91157138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.589C>A |
| AA Mutation |
p.Gln197Lys(p.Q197K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |