| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136338268:136338268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3763A>C |
| AA Mutation |
p.Met1255Leu(p.M1255L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136367040:136367040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2588A>G |
| AA Mutation |
p.His863Arg(p.H863R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383202 |
| Start |
136477384:136477384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.931T>A |
| AA Mutation |
p.Cys311Ser(p.C311S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |