| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315323 |
| Start |
44559198:44559198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1510A>G |
| AA Mutation |
p.Ile504Val(p.I504V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315323 |
| Start |
44558829:44558829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1141G>T |
| AA Mutation |
p.Ala381Ser(p.A381S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000315323 |
| Start |
44558627:44558627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775656853
|
| CDS Mutation |
c.939C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |