| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337777 |
| Start |
142689733:142689733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1097C>T |
| AA Mutation |
p.Ala366Val(p.A366V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337777 |
| Start |
142712000:142712000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1883T>C |
| AA Mutation |
p.Ile628Thr(p.I628T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000337777 |
| Start |
142678030:142678030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |