| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374737 |
| Start |
66025048:66025048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.917T>C |
| AA Mutation |
p.Leu306Pro(p.L306P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374737 |
| Start |
66033573:66033573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.313A>G |
| AA Mutation |
p.Met105Val(p.M105V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374737 |
| Start |
66022463:66022463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1000A>T |
| AA Mutation |
p.Met334Leu(p.M334L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |