| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339647 |
| Start |
124912382:124912382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1390C>G |
| AA Mutation |
p.Leu464Val(p.L464V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339647 |
| Start |
124913457:124913457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.315G>C |
| AA Mutation |
p.Lys105Asn(p.K105N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339647 |
| Start |
124913686:124913686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.86A>T |
| AA Mutation |
p.Lys29Met(p.K29M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |