| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263574 |
| Start |
130123761:130123761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1072G>A |
| AA Mutation |
p.Ala358Thr(p.A358T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263574 |
| Start |
130141507:130141507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776057355
|
| CDS Mutation |
c.1969G>A |
| AA Mutation |
p.Glu657Lys(p.E657K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263574 |
| Start |
130123694:130123694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761586315
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |