| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50920526:50920526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.805T>C |
| AA Mutation |
p.Tyr269His(p.Y269H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50916171:50916171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.396A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50895828:50895828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10delC |
| AA Mutation |
p.Arg4GlyfsTer2(p.R4Gfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |