| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000448097 |
| Start |
7847619:7847619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1331G>T |
| AA Mutation |
p.Ser444Ile(p.S444I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000448097 |
| Start |
7848263:7848263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780514339
|
| CDS Mutation |
c.1975G>A |
| AA Mutation |
p.Gly659Arg(p.G659R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000448097 |
| Start |
7851188:7851188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3841G>A |
| AA Mutation |
p.Ala1281Thr(p.A1281T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |