| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333026 |
| Start |
70204328:70204328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.671C>A |
| AA Mutation |
p.Ser224Tyr(p.S224Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333026 |
| Start |
70200340:70200340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.353T>C |
| AA Mutation |
p.Ile118Thr(p.I118T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333026 |
| Start |
70199847:70199847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.232C>A |
| AA Mutation |
p.Leu78Ile(p.L78I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |