| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
191007604:191007604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.331G>A |
| AA Mutation |
p.Glu111Lys(p.E111K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190989622:190989622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759722579
|
| CDS Mutation |
c.1090T>C |
| AA Mutation |
p.Phe364Leu(p.F364L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190995131:190995131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874G>C |
| AA Mutation |
p.Asp292His(p.D292H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |