| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370742 |
| Start |
78938233:78938233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.443G>A |
| AA Mutation |
p.Arg148Lys(p.R148K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370742 |
| Start |
78927034:78927034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.935C>A |
| AA Mutation |
p.Ser312Tyr(p.S312Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370742 |
| Start |
78921751:78921751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1119G>A |
| AA Mutation |
p.Trp373Ter(p.W373*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |