Gene >> SCAI
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336505 |
| Start |
124971721:124971721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1523G>T |
| AA Mutation |
p.Arg508Leu(p.R508L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336505 |
| Start |
125029664:125029664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.306G>A |
| AA Mutation |
p.Trp102Ter(p.W102*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |