| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373247 |
| Start |
127813374:127813374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1534G>A |
| AA Mutation |
p.Ala512Thr(p.A512T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373247 |
| Start |
127813543:127813543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1703C>T |
| AA Mutation |
p.Thr568Ile(p.T568I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373247 |
| Start |
127813477:127813477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1637C>T |
| AA Mutation |
p.Thr546Ile(p.T546I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |