| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29489457:29489457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1817C>A |
| AA Mutation |
p.Ser606Tyr(p.S606Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29490687:29490687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3047C>A |
| AA Mutation |
p.Ala1016Asp(p.A1016D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29489299:29489303(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1661_1665delCAAAG |
| AA Mutation |
p.Ala554GlyfsTer8(p.A554Gfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |