| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368087 |
| Start |
131583392:131583392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104893948
|
| CDS Mutation |
c.703G>A |
| AA Mutation |
p.Gly235Arg(p.G235R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368087 |
| Start |
131579195:131579195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.215C>A |
| AA Mutation |
p.Ser72Tyr(p.S72Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368087 |
| Start |
131582652:131582652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.497C>T |
| AA Mutation |
p.Thr166Ile(p.T166I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |