| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000524377 |
| Start |
156873719:156873719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.937C>G |
| AA Mutation |
p.Leu313Val(p.L313V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000524377 |
| Start |
156868145:156868145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141021604
|
| CDS Mutation |
c.470G>A |
| AA Mutation |
p.Arg157His(p.R157H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000524377 |
| Start |
156880027:156880027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765477124
|
| CDS Mutation |
c.2075G>A |
| AA Mutation |
p.Arg692His(p.R692H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |