| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228289 |
| Start |
133191555:133191555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.301G>A |
| AA Mutation |
p.Ala101Thr(p.A101T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228289 |
| Start |
133203943:133203943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2257G>A |
| AA Mutation |
p.Glu753Lys(p.E753K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228289 |
| Start |
133188005:133188005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs189573508
|
| CDS Mutation |
c.167G>A |
| AA Mutation |
p.Arg56His(p.R56H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |