| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295718 |
| Start |
219302331:219302331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201446365
|
| CDS Mutation |
c.800C>T |
| AA Mutation |
p.Pro267Leu(p.P267L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295718 |
| Start |
219297293:219297293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs17847406
|
| CDS Mutation |
c.2028G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295718 |
| Start |
219307483:219307483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.241C>T |
| AA Mutation |
p.Gln81Ter(p.Q81*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |