| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124380571:124380571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8143C>A |
| AA Mutation |
p.His2715Asn(p.H2715N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124392314:124392314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5405A>G |
| AA Mutation |
p.Asp1802Gly(p.D1802G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124420357:124420357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4915C>A |
| AA Mutation |
p.Leu1639Ile(p.L1639I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |