| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42670214:42670214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4004G>A |
| AA Mutation |
p.Ser1335Asn(p.S1335N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42662204:42662204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3463A>G |
| AA Mutation |
p.Met1155Val(p.M1155V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372899 |
| Start |
42642421:42642421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2037T>G |
| AA Mutation |
p.Tyr679Ter(p.Y679*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |