| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321990 |
| Start |
30835300:30835300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1219T>C |
| AA Mutation |
p.Phe407Leu(p.F407L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321990 |
| Start |
30832356:30832356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321990 |
| Start |
30860537:30860537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3061G>T |
| AA Mutation |
p.Glu1021Ter(p.E1021*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |