| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000279178 |
| Start |
63408747:63408747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1469T>C |
| AA Mutation |
p.Leu490Pro(p.L490P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000279178 |
| Start |
63409817:63409817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1617A>T |
| AA Mutation |
p.Arg539Ser(p.R539S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000279178 |
| Start |
63408779:63408779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1501A>G |
| AA Mutation |
p.Ile501Val(p.I501V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |