| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259008 |
| Start |
61686004:61686004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2737T>G |
| AA Mutation |
p.Ser913Ala(p.S913A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259008 |
| Start |
61780385:61780385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1811A>G |
| AA Mutation |
p.Asn604Ser(p.N604S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000259008 |
| Start |
61716065:61716065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2380-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |