| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31777511:31777511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.755G>T |
| AA Mutation |
p.Ser252Ile(p.S252I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31783851:31783851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1343A>T |
| AA Mutation |
p.Lys448Met(p.K448M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300403 |
| Start |
31777544:31777544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.788G>T |
| AA Mutation |
p.Arg263Leu(p.R263L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |