| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373229 |
| Start |
39316395:39316395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.709G>T |
| AA Mutation |
p.Ala237Ser(p.A237S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373229 |
| Start |
39317824:39317824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763247743
|
| CDS Mutation |
c.457G>A |
| AA Mutation |
p.Ala153Thr(p.A153T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373229 |
| Start |
39315016:39315016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.916G>T |
| AA Mutation |
p.Gly306Ter(p.G306*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |