| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373202 |
| Start |
70868367:70868367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.638G>A |
| AA Mutation |
p.Ser213Asn(p.S213N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373202 |
| Start |
70871128:70871128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.891T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373202 |
| Start |
70876656:70876656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1561G>T |
| AA Mutation |
p.Gly521Ter(p.G521*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |