| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356736 |
| Start |
102304391:102304391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.766T>A |
| AA Mutation |
p.Cys256Ser(p.C256S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356736 |
| Start |
102315727:102315727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.323T>G |
| AA Mutation |
p.Leu108Trp(p.L108W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356736 |
| Start |
102344605:102344605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58G>T |
| AA Mutation |
p.Gly20Ter(p.G20*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |