| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000325222 |
| Start |
148787094:148787094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1453G>A |
| AA Mutation |
p.Glu485Lys(p.E485K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000325222 |
| Start |
148757001:148757001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.334G>A |
| AA Mutation |
p.Asp112Asn(p.D112N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000325222 |
| Start |
148730206:148730206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.84C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |