| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271452 |
| Start |
163345740:163345740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.870G>T |
| AA Mutation |
p.Gln290His(p.Q290H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271452 |
| Start |
163340417:163340417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.660C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000271452 |
| Start |
163336771:163336771(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.362delT |
| AA Mutation |
p.Leu121Ter(p.L121*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |