| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308924 |
| Start |
55673989:55673989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1349C>T |
| AA Mutation |
p.Thr450Met(p.T450M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308924 |
| Start |
55662542:55662542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.527G>T |
| AA Mutation |
p.Gly176Val(p.G176V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308924 |
| Start |
55668763:55668763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916G>C |
| AA Mutation |
p.Glu306Gln(p.E306Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |