| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000478753 |
| Start |
30445098:30445098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.630G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000478753 |
| Start |
30444462:30444462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1266T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000478753 |
| Start |
30444494:30444494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1234C>T |
| AA Mutation |
p.Arg412Ter(p.R412*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |