| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374012 |
| Start |
35927814:35927814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2039G>T |
| AA Mutation |
p.Cys680Phe(p.C680F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374012 |
| Start |
35863377:35863377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.785G>A |
| AA Mutation |
p.Arg262Lys(p.R262K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374012 |
| Start |
35801559:35801559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.37T>C |
| AA Mutation |
p.Phe13Leu(p.F13L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |