| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318522 |
| Start |
42328918:42328918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2374A>T |
| AA Mutation |
p.Ile792Phe(p.I792F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318522 |
| Start |
42303387:42303387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1840A>T |
| AA Mutation |
p.Arg614Trp(p.R614W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318522 |
| Start |
42261206:42261206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760391629
|
| CDS Mutation |
c.424C>T |
| AA Mutation |
p.Arg142Ter(p.R142*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |