| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372213 |
| Start |
80274647:80274647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.958T>A |
| AA Mutation |
p.Tyr320Asn(p.Y320N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372213 |
| Start |
80276528:80276528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.616T>G |
| AA Mutation |
p.Ser206Ala(p.S206A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372213 |
| Start |
80274583:80274583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1022C>A |
| AA Mutation |
p.Thr341Lys(p.T341K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |