| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310447 |
| Start |
143294266:143294266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512C>A |
| AA Mutation |
p.Pro171His(p.P171H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310447 |
| Start |
143304682:143304682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1126G>A |
| AA Mutation |
p.Ala376Thr(p.A376T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310447 |
| Start |
143304973:143304973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261G>T |
| AA Mutation |
p.Ala421Ser(p.A421S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |