| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304887 |
| Start |
70481396:70481396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.652C>A |
| AA Mutation |
p.Pro218Thr(p.P218T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304887 |
| Start |
70481493:70481493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.749C>T |
| AA Mutation |
p.Ser250Phe(p.S250F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304887 |
| Start |
70480803:70480803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.59G>C |
| AA Mutation |
p.Ser20Thr(p.S20T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |