| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302987 |
| Start |
81296964:81296964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1939G>A |
| AA Mutation |
p.Glu647Lys(p.E647K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302987 |
| Start |
81301507:81301507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3313T>G |
| AA Mutation |
p.Leu1105Val(p.L1105V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302987 |
| Start |
81306051:81306051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3564C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |