| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518237 |
| Start |
39927860:39927860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.887G>C |
| AA Mutation |
p.Arg296Thr(p.R296T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518237 |
| Start |
39927889:39927889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916T>G |
| AA Mutation |
p.Phe306Val(p.F306V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518237 |
| Start |
39927923:39927923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761098064
|
| CDS Mutation |
c.950G>A |
| AA Mutation |
p.Arg317His(p.R317H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |