| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343380 |
| Start |
33677299:33677299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872G>T |
| AA Mutation |
p.Gly291Val(p.G291V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343380 |
| Start |
33678303:33678303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.623A>T |
| AA Mutation |
p.Gln208Leu(p.Q208L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343380 |
| Start |
33677451:33677451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.815A>T |
| AA Mutation |
p.Gln272Leu(p.Q272L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |