| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249375 |
| Start |
128947957:128947957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.968G>A |
| AA Mutation |
p.Arg323His(p.R323H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000249375 |
| Start |
128947342:128947342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.546C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000249375 |
| Start |
128947402:128947402(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.606delT |
| AA Mutation |
p.Pro204LeufsTer36(p.P204Lfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |