| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295709 |
| Start |
218699095:218699095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3551G>C |
| AA Mutation |
p.Gly1184Ala(p.G1184A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295709 |
| Start |
218692279:218692279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1901T>C |
| AA Mutation |
p.Val634Ala(p.V634A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000295709 |
| Start |
218692293:218692293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1915G>T |
| AA Mutation |
p.Gly639Ter(p.G639*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |