| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58123559:58123559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3593C>T |
| AA Mutation |
p.Thr1198Met(p.T1198M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58123187:58123187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3221G>T |
| AA Mutation |
p.Gly1074Val(p.G1074V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58104014:58104014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1539C>G |
| AA Mutation |
p.Phe513Leu(p.F513L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |