| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114659620:114659620(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1594A>T |
| AA Mutation |
p.Ser532Cys(p.S532C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350908 |
| Start |
114629889:114629889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.481C>A |
| AA Mutation |
p.Gln161Lys(p.Q161K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350908 |
| Start |
114629928:114629928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.520C>T |
| AA Mutation |
p.Gln174Ter(p.Q174*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |