| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353479 |
| Start |
104041521:104041521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2569G>A |
| AA Mutation |
p.Gly857Ser(p.G857S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000353479 |
| Start |
104076314:104076314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.318C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000353479 |
| Start |
104054113:104054113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1750C>T |
| AA Mutation |
p.Arg584Ter(p.R584*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |